LE4 Flashcards
1
Q
What are characteristics of autosomal dominant inheritance, EXCEPT:
A. Affects individuals in every generation
B. There is a 50% chance of inheritance
C. It affects males more commonly than females
D. Phenotypically normal parents do not transmit the disease
A
C. It affects males more commonly than females
Rationale: Autosomal dominant disorders affect males and females equally because the inheritance is not sex-linked. The condition occurs in every generation, and there is typically a 50% chance of inheritance if one parent has the disorder.
2
Q
A young woman recently had a miscarriage. What advice would you give regarding the possibility of chromosomal anomalies?
A. Approximately 10%
B. Approximately 25%
C. Approximately 50%
D. Approximately 75%
A
C. Approximately 50%
Correct Answer: C
Rationale: About 50% of first-trimester miscarriages are caused by chromosomal anomalies, most commonly due to trisomies. This is a well-established figure in obstetric and genetic studies.
3
Q
A disease affecting all the daughters but none of the sons is likely due to:
A. X-linked recessive inheritance
B. Autosomal recessive inheritance
C. X-linked dominant inheritance
D. Mitochondrial inheritance
A
C. X-linked dominant inheritance
Correct Answer: C
Rationale: In X-linked dominant inheritance, affected fathers pass the trait to all daughters but no sons because males contribute a Y chromosome to their sons. This inheritance pattern is distinct and consistent.
4
Q
A disease passed only through the mother is due to:
A. X-linked inheritance
B. Autosomal dominant inheritance
C. Autosomal recessive inheritance
D. Mitochondrial inheritance
A
D. Mitochondrial inheritance
Correct Answer: D
Rationale: Mitochondrial DNA is inherited exclusively from the mother because the mitochondria in the sperm do not contribute to the zygote. Thus, mitochondrial disorders are always maternally inherited.
5
Q
Uniparental disomy occurs when both copies of one chromosome come from the same parent. Which of the following statements about uniparental disomy is INACCURATE?
A. Covers/uncovers imprinting
B. Can lead to autosomal dominant disorders
C. Is associated with advanced maternal age
D. Is associated with mosaicism for trisomy
A
B. Can lead to autosomal dominant disorders
Correct Answer: B
Rationale: UPD occurs when both copies of a chromosome come from the same parent, which can cause recessive disorders or imprinting disorders but not autosomal dominant disorders. Autosomal dominant diseases require a single defective copy regardless of parental origin.
6
Q
A 2-month-old baby boy presents with recurrent chest infections, cleft palate, right-sided aortic arch, and absent thymic shadow on CXR. He could be diagnosed with one of the following syndromes, EXCEPT:
A. Velocardiofacial syndrome
B. Conotruncal anomaly face syndrome
C. DiGeorge syndrome
D. Pierre Robin syndrome
A
D. Pierre Robin syndrome
Correct Answer: D
Rationale: The symptoms—recurrent infections, cleft palate, absent thymic shadow, and right-sided aortic arch—are characteristic of DiGeorge syndrome (22q11 deletion). Pierre Robin syndrome includes cleft palate but lacks the immunological and cardiovascular findings seen here.
7
Q
A mentally retarded 15-year-old boy is found to have macro-orchidism and large prominent ears. The most likely diagnosis is:
A. Cerebral gigantism
B. Acromegaly
C. Fragile X syndrome
D. Trisomy 21
A
C. Fragile X syndrome
Correct Answer: C
Rationale: Fragile X syndrome is the most common inherited cause of intellectual disability. Classic features include macro-orchidism, large prominent ears, and intellectual impairment, particularly in males.
8
Q
A small-for-gestational-age infant is born to a 36-year-old woman. The infant is noted at birth to have low-set and malformed ears, microcephaly, rocker-bottom feet, inguinal hernias, cleft lip and palate, and micrognathia. The chromosome analysis is likely to reveal which of the following:
A. Turner syndrome
B. Edward syndrome
C. Patau syndrome
D. Down syndrome
A
B. Edward syndrome
Correct Answer: B
Rationale: Edward syndrome (Trisomy 18) presents with features such as microcephaly, rocker-bottom feet, low-set ears, cleft lip/palate, and micrognathia. These findings match the description given.
9
Q
A 5-year-old boy presents with fever, headache, repeated vomiting, and nuchal rigidity. Kernig and Brudzinski signs are positive. The MOST common organism causing this condition is:
A. Neisseria meningitidis
B. Staphylococcus aureus
C. Streptococcus pneumoniae
D. Haemophilus influenzae
A
C. Streptococcus pneumoniae
Correct Answer: C
Rationale: Streptococcus pneumoniae is the most common cause of bacterial meningitis in children beyond the neonatal period. It is responsible for severe infections, particularly in young children.
10
Q
A 9-year-old child presents with a history of a fall from height, otorrhea, basilar skull fracture, fever, headache, repeated vomiting, and nuchal rigidity. The most common organism causing this condition is:
A. Neisseria meningitidis
B. Staphylococcus aureus
C. Streptococcus pneumoniae
D. Haemophilus influenzae
A
C. Streptococcus pneumoniae
Correct Answer: C
Rationale: In cases of basilar skull fractures with otorrhea, Streptococcus pneumoniae is the leading cause of meningitis. Pneumococcus commonly gains access to the meninges through fractures at the skull base.
11
Q
A fair-haired, mentally retarded 4-year-old presents with frequent laughter, hand flapping, fascination with water, and scoliosis. The most likely diagnosis is:
A. Down syndrome
B. Angelman syndrome
C. Rett syndrome
D. Fragile X syndrome
A
B. Angelman syndrome
Rationale: Angelman syndrome is characterized by:
Frequent laughter and smiling
Hand-flapping movements
Hyperactivity
Scoliosis
Fascination with water
Developmental delay and severe intellectual disability
12
Q
A child with a dysmorphic face, flat facial features, almond-shaped eyes, small ears, and a single palmar crease is most likely to have:
A. Turner syndrome
B. Trisomy 13
C. Trisomy 21
D. Noonan syndrome
A
C. Trisomy 21 (Down syndrome)
Rationale:
Classic features of Down syndrome include:
Flat facial profile
Almond-shaped eyes
Single transverse palmar crease
Short neck and small ears
13
Q
An institutionalized delinquent appears normal at first glance but has large teeth, a long face, long fingers, and trouble with fine motor skills. The most likely diagnosis is:
A. Fragile X syndrome
B. Klinefelter syndrome
C. XYY syndrome
D. Angelman syndrome
A
A. Fragile X syndrome
Explanation:
• Fragile X syndrome is the most common inherited cause of intellectual disability and is associated with specific physical and behavioral features.
• Key characteristics include:
• Large teeth
• Long face
• Long fingers (arachnodactyly)
• Difficulties with fine motor skills
• Behavioral issues, including hyperactivity, social anxiety, and sometimes aggressive tendencies.
14
Q
A very tall, thin boy with delayed speech development, poor school performance, long limbs, a decreased limb ratio, and small testes is most likely to have:
A. Marfan syndrome
B. Turner syndrome
C. Klinefelter syndrome
D. Noonan syndrome
A
C. Klinefelter syndrome
Rationale: Klinefelter syndrome (47, XXY) presents with:
Tall stature
Long limbs
Small testes and hypogonadism
Delayed language and learning disabilities
15
Q
A 7-year-old child presents with persistent mucopurulent rhinorrhea, nasal stuffiness, headache, and nighttime cough after a flu-like illness. Facial swelling and tenderness are noted. The major predisposing factor for this condition is:
A. Allergic rhinitis
B. Common cold
C. Asthma
D. Bacterial infection
A
B. Common cold
Rationale:
A viral upper respiratory infection (common cold) predisposes to bacterial sinusitis, especially after flu-like symptoms.
Symptoms include persistent rhinorrhea, facial pain, and swelling.
16
Q
A 7-year-old boy presents with earache and aural discharge in the left ear after swimming. He is afebrile, but tenderness is noted on pinna movement. The MOST likely cause of this condition is:
A. Streptococcus pneumoniae
B. Staphylococcus aureus
C. Pseudomonas aeruginosa
D. Haemophilus influenzae
A
C. Pseudomonas aeruginosa
Rationale:
Swimmer’s ear (otitis externa) is commonly caused by Pseudomonas aeruginosa, especially after water exposure.
Key features include ear discharge, tenderness on pinna manipulation, and afebrile status.
17
Q
A patient with primary amenorrhea, short stature, significant hypertension, and webbed neck is most likely to have:
A. Turner syndrome
B. Klinefelter syndrome
C. Noonan syndrome
D. Trisomy 18
A
A. Turner syndrome
Rationale: Turner syndrome (45, X) presents with:
Primary amenorrhea
Short stature
Webbed neck
Hypertension and coarctation of the aorta
18
Q
A hyperactive child with a long face, large thighs, and very large testes is most likely diagnosed with:
A. Fragile X syndrome
B. Marfan syndrome
C. XYY syndrome
D. Angelman syndrome
A
A. Fragile X syndrome
Rationale: Fragile X syndrome presents with:
Hyperactivity and developmental delay
Long face and prominent ears
Macro-orchidism (enlarged testes)
19
Q
A young woman recently had a miscarriage. What part of your advice includes the possibility of chromosomal anomalies?
A. Approximately 10%
B. Approximately 25%
C. Approximately 50%
D. Approximately 75%
A
C. Approximately 50%
Rationale: Chromosomal abnormalities account for approximately 50% of first-trimester miscarriages, particularly aneuploidies like trisomies.
20
Q
The following serum marker is increased in neural tube defects:
A. Beta-hCG
B. Alpha-fetoprotein
C. Lactate dehydrogenase
D. Creatinine kinase
A
B. Alpha-fetoprotein
Correct Answer: B
Rationale:
Alpha-fetoprotein (AFP) is elevated in maternal serum and amniotic fluid in cases of neural tube defects like spina bifida and anencephaly.
It is a standard screening marker during pregnancy.
21
Q
Gene therapy involves the transfer of DNA to correct diseases. All of the following are gene therapy candidates, EXCEPT:
A. Severe combined immunodeficiency
B. Sickle cell anemia
C. Cystic fibrosis
D. Hemophilia
A
A. Severe combined immunodeficiency
Clarification: SCID, sickle cell anemia, cystic fibrosis, and hemophilia are all valid candidates for gene therapy. SCID specifically is one of the most successful examples of gene therapy. Further review required for what the intended “exception” might be.
22
Q
What is FISH?
A. A genetic test for identifying chromosomal abnormalities
B. A procedure for gene editing
C. A method for diagnosing enzyme deficiencies
D. A technique for sequencing whole genomes
A
A. A genetic test for identifying chromosomal abnormalities
Correct Answer: A
Rationale:
FISH is used to detect chromosomal abnormalities like deletions, duplications, and rearrangements using fluorescent probes.
It is highly specific and commonly used in clinical genetics.
23
Q
Trinucleotide repeats are implicated in the etiology of all the following genetic disorders, EXCEPT:
A. Huntington disease
B. Fragile X syndrome
C. Neurofibromatosis
D. Myotonic dystrophy
A
C. Neurofibromatosis
Correct Answer: C
Rationale:
Neurofibromatosis is caused by mutations in the NF1 or NF2 genes and is NOT related to trinucleotide repeat expansions.
Disorders like Huntington disease, Fragile X syndrome, and myotonic dystrophy are caused by trinucleotide repeat expansions.
24
Q
A 10-month-old infant diagnosed with Trisomy 18 presents with a prominent occiput, clenched fists, and “rocker bottom feet”. What are the two complications that most commonly cause death in these children?
A. Sepsis and meningitis
B. Heart failure and pneumonia
C. Disseminated intravascular coagulation (DIC) and CNS infection
D. Disseminated tuberculosis and malnutrition
A
B. Heart failure and pneumonia
Correct Answer: B
Rationale:
Trisomy 18 (Edwards syndrome) is associated with severe congenital heart defects and respiratory issues.
Heart failure and pneumonia are the leading causes of death.
25
Genetic diseases caused by changes (or mutations) in DNA sequences. A frameshift mutation refers to:
A. Change in a single DNA base
B. Change in the amino acid of a particular protein
C. Increase in chromosomal number
D. Loss or addition of one or more DNA bases
D. Loss or addition of one or more DNA bases
Correct Answer: D
Rationale:
A frameshift mutation occurs when nucleotides are inserted or deleted, changing the reading frame of the DNA sequence.
This can disrupt protein translation, leading to severe functional defects.
26
Disorders caused by expansion of trinucleotide repeats, EXCEPT:
A. Huntington disease
B. Fragile X syndrome
C. Neurofibromatosis
D. Myotonic dystrophy
C. Neurofibromatosis
Correct Answer: C
Rationale:
Neurofibromatosis is caused by gene mutations, not trinucleotide expansions.
Huntington disease, Fragile X syndrome, and myotonic dystrophy are classic examples of trinucleotide repeat disorders.
27
Chromosomal analysis should be ordered for children with:
A. Speech delay
B. Mental retardation
C. Autism spectrum disorder
D. ADHD
B. Mental retardation
Correct Answer: B
Rationale:
Chromosomal analysis is indicated in children with global developmental delay or intellectual disabilities to identify abnormalities like trisomies or deletions.
28
Autosomal recessive disorders are characterized by all the following, EXCEPT:
A. Horizontal pattern of inheritance
B. Carrier parents
C. Greater incidence than autosomal dominant disorders
D. Equal occurrence in males and females
C. Greater incidence than autosomal dominant disorders
Correct Answer: C
Rationale:
Autosomal recessive disorders generally occur less frequently than autosomal dominant disorders because they require two copies of the defective gene.
The other statements accurately describe autosomal recessive inheritance.
29
Polygenic inheritance (multifactorial) disorders result from the interplay of genetic and environmental factors. All the following are considered polygenic inheritance, EXCEPT:
A. Diabetes mellitus
B. Hypertension
C. Schizophrenia
D. Hairy ears
D. Hairy ears
Correct Answer: D
Rationale:
Hairy ears is a Y-linked trait and NOT a result of polygenic inheritance.
Disorders like diabetes, hypertension, and schizophrenia result from multifactorial inheritance (genetic and environmental factors).
30
The most common genetic defect in Prader-Willi Syndrome is:
A. Deletion of maternal chromosome 15q11
B. Deletion of paternal chromosome 15q11
C. Trisomy 15
D. Mosaicism
B. Deletion of paternal chromosome 15q11
Correct Answer: B
Rationale: Prader-Willi syndrome results from the deletion of the paternal allele on chromosome 15q11-q13 or maternal uniparental disomy. This region is critical for gene expression.
31
Children with Down syndrome have all of the following, EXCEPT:
A. Up-slanting palpebral fissures
B. Brushfield spots
C. Hypotonia
D. Down-slanting palpebral fissures
D. Down-slanting palpebral fissures
Correct Answer: D
Rationale: Down syndrome is characterized by up-slanting palpebral fissures, Brushfield spots, and hypotonia. Down-slanting palpebral fissures are more typical of other conditions like Noonan syndrome.
32
All the following are characteristic features of Turner syndrome, EXCEPT:
A. Low set ears
B. Webbing of the neck
C. Normal intelligence
D. Mildly affected IQ
C. Normal intelligence
Correct Answer: C
Rationale: Girls with Turner syndrome generally have normal intelligence, though mild learning disabilities in math and spatial concepts may occur. The other features—low-set ears and webbing of the neck—are classic for Turner syndrome.
33
A 3-month-old infant presents with fever, irritability, and excessive crying, especially during diaper changes. On examination, erythema, swelling, and tenderness over the left hip joint are noted. The initial diagnostic procedure of choice for this condition is:
A. X-ray
B. Ultrasound
C. CT scan
D. MRI
B. Ultrasound
Correct Answer: B
Rationale: Ultrasound is the diagnostic modality of choice for evaluating joint effusions or infections like septic arthritis in infants. It is safe, non-invasive, and radiation-free.
34
A full-term infant presents with multiple congenital anomalies. The most likely diagnosis is:
A. Trisomy 13
B. Turner syndrome
C. Down syndrome
D. Noonan syndrome
C. Down syndrome
Correct Answer: C
Rationale: Down syndrome (Trisomy 21) is the most common cause of multiple congenital anomalies, including dysmorphic facial features, congenital heart defects, and hypotonia.
35
The center of temperature control in the body is located in the:
A. Thalamus
B. Hypothalamus
C. Pituitary gland
D. Cerebellum
B. Hypothalamus
Correct Answer: B
Rationale: The hypothalamus regulates body temperature by receiving sensory inputs and initiating responses to maintain homeostasis.
36
Donna is a 2-year-old female currently on her third cycle of chemotherapy for leukemia. Which vaccine is contraindicated?
A. Hepatitis B
B. MMR
C. Varicella
D. Influenza
C. Varicella
Correct Answer: C
Rationale: Live vaccines like Varicella and MMR are contraindicated in immunocompromised children due to the risk of disseminated infection.
37
Which of the following variables indicates a possible bacterial infection over a viral infection?
A. Neutrophilia
B. Lymphocytosis
C. Eosinophilia
D. Neutropenia
D. Neutropenia
Correct Answer: D
Rationale: Neutropenia (low neutrophil count) is often seen in severe bacterial infections or in immunocompromised states. Viral infections typically cause lymphocytosis.
38
A 13-year-old male with dengue hemorrhagic fever becomes hypotensive with severe bleeding on his third hospital day. The type of shock most likely occurring due to plasma leakage is:
A. Cardiogenic shock
B. Hypovolemic shock
C. Septic shock
D. Obstructive shock
B. Hypovolemic shock
Correct Answer: B
Rationale: Dengue hemorrhagic fever leads to plasma leakage, resulting in hypovolemic shock due to decreased intravascular volume.
39
A 2-year-old boy presents with a 1-day history of fever (38.9°C), poor appetite, vomiting, and petechial rashes on the trunk, legs, and buttocks. At the ER, the rash spreads rapidly, and the patient is toxic and obtunded. The most likely diagnosis is:
A. Rocky Mountain Spotted Fever
B. Scarlet Fever
C. Meningococcemia
D. Kawasaki Disease
C. Meningococcemia
Correct Answer: C
Rationale: Meningococcemia caused by Neisseria meningitidis presents with:
Fever
Petechial rash that rapidly becomes purpuric
Signs of toxicity and circulatory collapse
40
Donna is a 2-year-old female currently on her 3rd cycle of chemotherapy for leukemia. Which vaccine is CONTRAINDICATED?
A. Influenza
B. Pneumococcal
C. Varicella
D. Meningococcal
C. Varicella
Correct Answer: C
Rationale: Live vaccines, like Varicella and MMR, are contraindicated in immunocompromised individuals, such as those receiving chemotherapy, due to the risk of disseminated infection. Inactivated vaccines like influenza and pneumococcal are safe.
41
A 3-year-old female was bitten by her new puppy. On PE, she has two transdermal bites on her right arm. Her aunt claims that she has completed her immunizations at the health center. Which treatment is recommended?
A. Wash the wound thoroughly and administer anti-rabies vaccine
B. Wash the wound thoroughly and administer anti-tetanus vaccine
C. Wash the wound thoroughly and administer anti-rabies vaccine and immunoglobulin
D. Wash the wound thoroughly and administer anti-rabies, anti-tetanus vaccine, and immunoglobulin
C. Wash the wound thoroughly and administer anti-rabies vaccine and immunoglobulin
Correct Answer: C
Rationale: In cases of transdermal bites with a risk of rabies, wound cleaning, anti-rabies vaccine, and immunoglobulin are recommended for post-exposure prophylaxis, regardless of previous immunization status.
42
A 2-month-old infant of an HIV-positive mother is followed up in your clinic. Which of the following treatment advice is appropriate for this infant?
A. Initiate antiretroviral therapy immediately
B. Administer prophylaxis against pneumocystis carinii pneumonia
C. Schedule an HIV test at 12 months of age
D. No specific intervention is necessary
B. Administer prophylaxis against pneumocystis carinii pneumonia
Correct Answer: B
Rationale: HIV-exposed infants are started on prophylaxis for Pneumocystis jirovecii pneumonia (e.g., trimethoprim-sulfamethoxazole) by 6 weeks of age until HIV infection is ruled out.
43
A 13-year-old develops fever, malaise, sore throat, and a dry hacking cough over several days. He does not appear ill, but his chest examination is significant for diffuse rales and rhonchi. Chest X-ray shows reticulonodular densities in both lobes. The most likely pathogen is:
A. Streptococcus pneumoniae
B. Mycoplasma pneumoniae
C. Adenovirus
D. Haemophilus influenzae
B. Mycoplasma pneumoniae
Correct Answer: B
Rationale: Mycoplasma pneumoniae causes atypical pneumonia, particularly in older children and adolescents. It presents with a dry hacking cough, malaise, and reticulonodular infiltrates on chest X-ray.
44
Which of the following helminthic infections can cause obstruction in the common bile duct?
A. Enterobiasis
B. Ascariasis
C. Trichuriasis
D. Ancylostomiasis
B. Ascariasis
Correct Answer: B
Rationale: Ascaris lumbricoides can migrate to the biliary tree, causing obstruction and complications such as cholangitis or pancreatitis. It is the most common helminthic cause of biliary obstruction.
45
The "Scotch tape" procedure is diagnostic of which helminthic infection?
A. Ascariasis
B. Enterobiasis (pinworm)
C. Trichuriasis
D. Hookworm infection
B. Enterobiasis (pinworm)
Correct Answer: B
Rationale: Enterobiasis (caused by Enterobius vermicularis) is diagnosed using the Scotch tape test, which collects pinworm eggs from the perianal area.
46
Skin lesions are common manifestations of various viral, bacterial, and fungal infections. Which of the following is associated with erythema nodosum?
A. Epstein-Barr virus
B. Staphylococcus aureus
C. Herpes simplex virus
D. Group A Streptococcus
D. Group A Streptococcus
Rationale: Erythema nodosum is commonly associated with Group A Streptococcus, tuberculosis, sarcoidosis, and fungal infections. Epstein-Barr virus can cause rashes but is not a common cause of erythema nodosum.
47
A 6-month-old infant has had a 3-day history of fever, hoarseness, a barking cough, and stridor. You suspect viral croup. This infection is caused by:
A. Measles virus
B. Adenovirus
C. Influenza virus
D. Parainfluenza virus
D. Parainfluenza virus
Correct Answer: D
Rationale: Viral croup is most commonly caused by Parainfluenza virus, presenting with hoarseness, barking cough, and stridor in young children.
48
A 2-year-old boy presents with a 1-day history of fever (38.9°C), poor appetite, vomiting, and petechial rashes scattered across the trunk, legs, and buttocks. At the ER, the rash spreads rapidly, and the patient is very toxic and obtunded. The most likely diagnosis is:
A. Stevens-Johnson syndrome
B. Toxic shock syndrome
C. Measles
D. Meningococcemia
D. Meningococcemia
Correct Answer: D
Rationale: Meningococcemia caused by Neisseria meningitidis presents with:
Petechial or purpuric rash
Rapid progression to sepsis
Toxic appearance and shock
High mortality if untreated.
49
This pathogen may cause vulvovaginitis associated with nocturnal pruritis, pruritic vesicles, and pustules in runs:
A. Candida albicans
B. Sarcoptes scabiei
C. Enterobius vermicularis
D. Trichomonas vaginalis
B. Sarcoptes scabiei
Correct Answer: B
Rationale:
Sarcoptes scabiei (scabies) causes intense itching, especially at night, with vesicles, pustules, and burrow tracks.
Commonly involves skin folds and can be associated with secondary vulvovaginitis.
50
A 3-year-old male from Cagayan waded in floodwaters during Typhoon Ondoy. His parents want to give him prophylaxis for leptospirosis but did not consent to doxycycline due to fear of adverse effects. What is an alternative prophylaxis?
A. Azithromycin
B. Ceftriaxone
C. Amoxicillin
D. Ciprofloxacin
A. Azithromycin
Correct Answer: A
Rationale:
Azithromycin is a safe alternative for leptospirosis prophylaxis in children when doxycycline is not preferred due to adverse effects.
Ceftriaxone is used for treatment, not prophylaxis.
51
During the critical phase of dengue, defervescence occurs on:
A. Day 1-3
B. Day 3-7
C. Day 7-10
D. Day 10-14
B. Day 3-7
Correct Answer: B
Rationale:
The critical phase of dengue occurs during Day 3-7 when fever subsides (defervescence).
This is the phase where plasma leakage, hemorrhage, and shock can occur.
52
This fluke can infect humans through contact with contaminated water. It is found locally in the country and usually invades the superior mesenteric veins:
A. Schistosoma haematobium
B. Schistosoma mansoni
C. Schistosoma japonicum
D. Paragonimus westermani
C. Schistosoma japonicum
Correct Answer: C
Rationale:
Schistosoma japonicum is endemic in the Philippines and primarily infects the superior mesenteric veins, causing schistosomiasis.
Other species like S. haematobium affect the urinary system.
53
Hand, foot, and mouth disease (HFMD) is a mild contagious infection caused by:
A. Enterovirus 71
B. Coxsackievirus
C. Echovirus
D. Poliovirus
B. Coxsackievirus
Correct Answer: B
Rationale:
HFMD is commonly caused by Coxsackievirus A16 and Enterovirus 71.
It presents with fever, oral ulcers, and a vesicular rash on the hands, feet, and buttocks.
54
LM, a 7-year-old male, presents with sore throat, fever, decreased appetite, tender lymph nodes, swollen uvula, and enlarged tonsils. He is allergic to fish and Co-Amoxiclav. How will you manage this case?
A. Advise oral analgesics and gargle with warm water and salt
B. Start oral Cefalexin and follow up after 3 days
C. Start oral Clarithromycin and follow up after 3 days
D. Admit the patient and start IV Ampicillin-Sulbactam
C. Start oral Clarithromycin and follow up after 3 days
Correct Answer: C
Rationale:
Clarithromycin (a macrolide) is an appropriate alternative in cases of penicillin allergy.
Cefalexin (option B) is a cephalosporin and may cross-react with penicillin allergies.
55
BB, a 23-month-old male born at home by a traditional birth attendant, presents with a 2-week history of dry, intermittent, irritative cough, post-tussive vomiting, lacrimation, nasal congestion, and low-grade fever. Cyanotic bouts during coughing are noted. He has no immunizations and work-up reveals leukocytosis and thrombocytosis. The most likely pathogen is:
A. Streptococcus pneumoniae
B. Listeria monocytogenes
C. Bordetella pertussis
D. Staphylococcus aureus
C. Bordetella pertussis
Correct Answer: C
Rationale:
Bordetella pertussis causes whooping cough, particularly in unimmunized children.
Symptoms include a paroxysmal cough, post-tussive vomiting, and leukocytosis with lymphocytosis.
56
Polygenic inheritance (multifactorial) disorders result from the interplay of genetic and environmental factors. All the following are considered polygenic inheritance, EXCEPT:
A. Cleft lip and palate
B. Spina bifida
C. Hypercholesterolemia
D. Hairy Ears
D. Hairy Ears
Correct Answer: D
Rationale:
Hairy ears are a Y-linked trait (not polygenic), as it is inherited via the Y chromosome.
Polygenic disorders like cleft lip/palate, spina bifida, and hypercholesterolemia result from the combined effects of multiple genes and environmental factors.
57
A child is born with an omphalocele. Omphalocele is a large abdominal wall defect that requires surgical correction. What is the most likely mechanism for this congenital anomaly?
A. Malformation
B. Deformation
C. Disruption
D. Dysplasia
A. Malformation
Correct Answer: A
Rationale:
Omphalocele is caused by a malformation during embryonic development, specifically due to failure of the bowel to return to the abdomen during midgut rotation.
Disruptions occur from secondary damage to normally developing tissue.
58
Which of the following studies is most useful in the diagnosis of aneuploidy?
A. Chromosomal karyotype
B. FISH (Fluorescent In Situ Hybridization)
C. Microarray analysis
D. PCR
A. Chromosomal karyotype
Correct Answer: A
Rationale:
Chromosomal karyotyping remains the gold standard for detecting aneuploidy (abnormal chromosome number), such as trisomies or monosomies.
FISH and microarray complement karyotyping but do not provide a complete chromosomal count.
59
The first trimester non-invasive screening test with a good detection rate for aneuploidy is:
A. Amniocentesis
B. Chorionic villus sampling
C. Ultrasound detection of nuchal translucency
D. Serum alpha-fetoprotein
C. Ultrasound detection of nuchal translucency
Correct Answer: C
Rationale:
Nuchal translucency ultrasound is a non-invasive test that measures the thickness of the nuchal fold between 10–14 weeks gestation. Increased thickness is associated with aneuploidy, particularly Down syndrome (Trisomy 21).
60
The hallmark of otitis media is:
A. Tympanic membrane retraction
B. Presence of purulent effusion
C. External ear pain
D. Hearing loss
B. Presence of purulent effusion
Correct Answer: B
Rationale:
The presence of purulent effusion in the middle ear is a hallmark feature of acute otitis media (AOM). It differentiates AOM from otitis media with effusion.
61
The 'thumb sign' is associated with which condition?
A. Croup
B. Epiglottitis
C. Tonsillitis
D. Peritonsillar abscess
B. Epiglottitis
Correct Answer: B
Rationale:
The thumb sign on lateral neck X-ray indicates an enlarged, thickened epiglottis, which is characteristic of epiglottitis.
It is a medical emergency commonly caused by Haemophilus influenzae type B (Hib).
62
Williams syndrome results from deletion of chromosome 7 that includes the elastin gene. All the following are characteristic features of Williams syndrome, EXCEPT:
A. Elfin facies
B. Mild to moderate intellectual disability
C. Normal IQ
D. Cardiovascular abnormalities
C. Normal IQ
Correct Answer: C
Rationale:
Williams syndrome is associated with mild to moderate intellectual disability, not a normal IQ.
Other features include elfin facies and cardiovascular abnormalities like supravalvular aortic stenosis.
63
Genetic diseases caused by changes (mutations) in the DNA sequence. A frameshift mutation refers to:
A. Change in a single DNA base
B. Loss or addition of one or more DNA bases
C. Duplication of a DNA segment
D. Chromosome translocation
B. Loss or addition of one or more DNA bases
Correct Answer: B
Rationale:
A frameshift mutation results from the insertion or deletion of nucleotides in non-multiples of three, altering the reading frame and disrupting protein synthesis.
64
A 13-year-old male was admitted for dengue hemorrhagic fever. On the third hospital day, he was noted to be hypotensive with severe bleeding, and an ICU transfer is warranted. What type of shock is most likely occurring due to plasma leakage?
A. Septic shock
B. Hypovolemic shock
C. Cardiogenic shock
D. Anaphylactic shock
B. Hypovolemic shock
Correct Answer: B
Rationale:
In dengue hemorrhagic fever, plasma leakage causes intravascular volume depletion, resulting in hypovolemic shock. It is characterized by hypotension and severe bleeding.
65
This fluke can infect humans through contact with contaminated water. It is found locally in the country and usually invades the superior mesenteric veins:
A. Schistosoma haematobium
B. Schistosoma mansoni
C. Schistosoma japonicum
D. Schistosoma mekongi
C. Schistosoma japonicum
Correct Answer: C
Rationale:
Schistosoma japonicum is endemic in the Philippines and primarily infects the superior mesenteric veins, leading to schistosomiasis.
Other species (e.g., S. haematobium) affect different regions (e.g., bladder veins).
66
FISH in genetic testing is best described as:
A. A test to identify gene mutations
B. A test to identify chromosomal location
C. A test for protein expression
D. A method for sequencing entire genomes
B. A test to identify chromosomal location
Correct Answer: B
Rationale:
FISH (Fluorescent In-Situ Hybridization) identifies specific chromosomal locations by using fluorescent probes. It detects deletions, duplications, and rearrangements at specific loci.
67
A 1-year-old presents with a disease that is classically an autosomal recessive trait (e.g., cystic fibrosis). The father is tested and, with 99% confidence, is negative for the carrier state. The most likely explanation is:
A. Paternal non-disjunction
B. Maternal uniparental isodisomy
C. Mosaicism in the father
D. De novo mutation
B. Maternal uniparental isodisomy
Correct Answer: B
Rationale:
Uniparental isodisomy occurs when both copies of a chromosome are inherited from one parent (in this case, the mother). This explains the autosomal recessive inheritance without the father being a carrier.
68
A newborn infant is noted to have dysmorphic features. The pregnancy was complicated by breech presentation, decreased fetal movements, and polyhydramnios. The infant demonstrates hypotonia, a flat face, flattened occiput, epicanthal folds, and abdominal distention. The most likely cause of this infant's dysmorphology is:
A. Trisomy 13
B. Trisomy 21
C. Trisomy 18
D. Noonan syndrome
B. Trisomy 21
Correct Answer: B
Rationale:
Features like hypotonia, flat face, flattened occiput, and epicanthal folds are classic for Trisomy 21 (Down syndrome).
Polyhydramnios and decreased fetal movements are often associated with chromosomal anomalies.
69
A genetic condition that is lethal in infancy is most likely to be:
A. An autosomal dominant mutation
B. A mitochondrial defect
C. An autosomal recessive enzyme deficiency
D. A chromosomal trisomy
C. An autosomal recessive enzyme deficiency
Correct Answer: C
Rationale:
Many autosomal recessive enzyme deficiencies, such as those seen in metabolic disorders (e.g., Tay-Sachs disease), are lethal in infancy due to the lack of essential enzymes.
70
You are evaluating a neonate with multiple dysmorphic features, including being small for gestational age, microcephaly, single nostril, postaxial polydactyly, and rocker-bottom feet. The most likely diagnosis is:
A. Patau syndrome
B. Edwards syndrome
C. Turner syndrome
D. Cri-du-chat syndrome
A. Patau syndrome
Explanation:
Patau syndrome (trisomy 13) is a chromosomal disorder associated with multiple dysmorphic features, many of which are described in the question.
Key features of Patau syndrome:
• Small for gestational age
• Microcephaly
• Midline facial defects, such as a single nostril (holoprosencephaly is common in trisomy 13).
• Postaxial polydactyly (extra digits on the ulnar side of hands or feet).
• Rocker-bottom feet (prominent heel with a convex plantar surface).
• Additional findings may include cleft lip/palate, congenital heart defects, and severe intellectual disability.
71
If there is a family history of genetic disorders, knowing the gender of an unborn child can be important because:
A. Some genetic disorders are X-linked
B. Gender determines prognosis in genetic disorders
C. Certain disorders are more common in males or females
D. A and C
D. A and C
Correct Answer: D
Rationale:
Some disorders are X-linked (e.g., Duchenne muscular dystrophy), while others are more common in one gender.
Gender can influence inheritance patterns and prognosis.
72
All the following are characteristic features of Turner syndrome, EXCEPT:
A. Webbed neck
B. Short stature
C. Mildly affected IQ
D. Amenorrhea
C. Mildly affected IQ
Correct Answer: C
Rationale:
Turner syndrome (45, X) is associated with normal intelligence but may have mild learning disabilities, especially in spatial perception.
Other features include short stature, webbed neck, and amenorrhea.
73
What chromosomal disorder can present as bilateral cleft palate, cleft lip, and a ventricular septal defect?
A. Down syndrome
B. Patau syndrome
C. Edwards syndrome
D. Turner syndrome
C. Edwards syndrome
Correct Answer: C
Rationale:
Edwards syndrome (Trisomy 18) presents with:
Cleft lip and palate
Congenital heart defects (e.g., VSD)
Micrognathia and rocker-bottom feet.
74
You are evaluating a 6-year-old boy with coarsened gargoyle-like facial features, stiff joints, and a cloudy cornea. The most likely genetic condition is:
A. Hunter syndrome
B. Hurler syndrome
C. Marfan syndrome
D. Williams syndrome
B. Hurler syndrome
Correct Answer: B
Rationale:
Hurler syndrome (MPS I) is a lysosomal storage disorder presenting with:
Gargoyle-like facial features
Stiff joints
Corneal clouding
Developmental delays.
75
A 6-month-old infant presents to the ER with a startle reflex, hypotonia, loss of developmental milestones, and a cherry-red spot on the macula. You suspect Tay-Sachs disease. This neurodegenerative condition is best described as:
A. Having a defect in the lysosomal protein Hexosaminidase A
B. An X-linked recessive disorder
C. A mitochondrial DNA defect
D. A deficiency of the enzyme alpha-L-iduronidase
A. Having a defect in the lysosomal protein Hexosaminidase A
Correct Answer: A
Rationale:
Tay-Sachs disease is caused by a deficiency of Hexosaminidase A, leading to GM2 ganglioside accumulation.
Classic features include hypotonia, developmental regression, and a cherry-red spot on the macula.
76
You are evaluating a 2-month-old baby boy with recurrent chest infections, cleft palate, right-sided aortic arch, and absent thymic shadow on CXR. He could be diagnosed with one of the following syndromes, EXCEPT:
A. DiGeorge syndrome
B. Velocardiofacial syndrome
C. Conotruncal anomaly face syndrome
D. Pierre Robin syndrome
D. Pierre Robin syndrome
Correct Answer: D
Rationale:
DiGeorge syndrome and related syndromes (e.g., Velocardiofacial syndrome) are associated with absent thymic shadow and right-sided aortic arch.
Pierre Robin syndrome presents with cleft palate and micrognathia but does not involve absent thymic shadow or aortic anomalies.
77
Of the following, the one which carries the highest rate of congenital heart disease is:
A. Noonan syndrome
B. Down syndrome
C. Turner syndrome
D. Williams syndrome
D. Williams syndrome
Correct Answer: D
Rationale:
Williams syndrome has a high prevalence of congenital heart defects, particularly supravalvular aortic stenosis.
Other syndromes (e.g., Down syndrome) also have heart defects but at a lower specific prevalence compared to Williams.
78
A two-week-old baby girl, delivered by NSD, term, AGA, was admitted due to poor suck and vomiting. Upon admission, the patient was lethargic with a classic mousy or musty odor of the urine. The newborn screening will test positive for:
A. Galactosemia
B. Maple Syrup Urine Disease
C. Phenylketonuria
D. Homocystinuria
C. Phenylketonuria
Correct Answer: C
Rationale:
A mousy or musty odor is characteristic of Phenylketonuria (PKU) due to the accumulation of phenylalanine.
PKU is detected via newborn screening.
79
In Maple Syrup Urine Disease, patients are unable to break down leucine, valine, and isoleucine because of the deficiency of this enzyme:
A. Phenylalanine hydroxylase
B. Branched-chain ketoacid decarboxylase
C. Glutaryl-CoA dehydrogenase
D. Propionyl-CoA carboxylase
B. Branched-chain ketoacid decarboxylase
Correct Answer: B
Rationale:
MSUD results from a deficiency in the enzyme branched-chain ketoacid decarboxylase, which breaks down leucine, isoleucine, and valine.
80
This fluke can infect humans through contact with contaminated water. It is found locally in the country and usually invades the superior mesenteric veins:
A. Schistosoma haematobium
B. Schistosoma mansoni
C. Schistosoma japonicum
D. Paragonimus westermani
C. Schistosoma japonicum
Correct Answer: C
Rationale:
Schistosoma japonicum is endemic to the Philippines and primarily infects the superior mesenteric veins, causing schistosomiasis.
81
HFMD is a mild, contagious infection that is highly infectious but has no specific treatment. This is commonly caused by:
A. Poxvirus
B. Coxsackievirus
C. Paramyxoviridae
D. Parainfluenza virus
B. Coxsackievirus
Correct Answer: B
Rationale:
HFMD is most commonly caused by Coxsackievirus A16 and Enterovirus 71. It presents with oral ulcers and a vesicular rash on the hands, feet, and buttocks.
82
In acute measles infection, the World Health Organization (WHO) recommends routine administration for 2 days of:
A. Zinc
B. Vitamin A
C. Vitamin C
D. Vitamin D
B. Vitamin A
Correct Answer: B
Rationale:
Vitamin A is given in acute measles to reduce complications, such as pneumonia and blindness. WHO recommends high-dose Vitamin A for 2 days.
83
Organic acidemias are considered disorders of protein metabolism. Which of the following is NOT an organic acidemia?
A. Methylmalonic acidemia
B. Propionic acidemia
C. Isovaleric acidemia
D. Lactic acidemia
D. Lactic acidemia
Correct Answer: D
Rationale:
Lactic acidemia is a disorder of energy metabolism, not an organic acidemia. Organic acidemias include conditions like Methylmalonic acidemia and Propionic acidemia.
84
There are four pathologic pathways for inborn errors of metabolism. What is the pathway affecting mucopolysaccharidosis?
A. Disorders of energy production
B. Disorders of storage of complex molecules
C. Disorders of breakdown of complex molecules
D. Disorders of small molecule metabolism
C. Disorders of breakdown of complex molecules
Correct Answer: C
Rationale:
Mucopolysaccharidoses result from impaired breakdown of complex molecules (glycosaminoglycans) due to lysosomal enzyme deficiencies.
85
Characteristic odors are clues to the diagnosis of inborn errors of metabolism. What condition has a sweaty feet odor?
A. Maple Syrup Urine Disease
B. Isovaleric acidemia
C. Phenylketonuria
D. Tyrosinemia
B. Isovaleric acidemia
Correct Answer: B
Rationale:
Isovaleric acidemia is characterized by the accumulation of isovaleric acid, leading to a sweaty feet odor. It is a type of organic acidemia.
86
A 6-year-old boy is brought to the OPD for consultation regarding developmental delay. He was born full term via normal spontaneous delivery, but has not been meeting his milestones. He has a marfanoid habitus and myopia. The most likely diagnosis is:
A. Tyrosinemia
B. Homocystinuria
C. Marfan syndrome
D. Hurler syndrome
B. Homocystinuria
Rationale:
The clinical presentation of the 6-year-old boy includes:
Developmental delay
Marfanoid habitus (tall stature, long limbs, arachnodactyly)
Myopia
These features are highly suggestive of Homocystinuria, a metabolic disorder caused by a defect in methionine metabolism, specifically a deficiency of cystathionine beta-synthase (CBS).
87
A 4-day-old neonate started to vomit after feeding. Upon physical examination, the classic manifestations of jaundice, cataract, and hepatomegaly were noted. The most likely enzyme deficiency involved is:
A. Galactokinase
B. Galactose 1-phosphate uridyltransferase
C. Aldolase B
D. Fructokinase
B. Galactose 1-phosphate uridyltransferase
Correct Answer: B
Rationale:
Classic galactosemia is caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT).
Symptoms include jaundice, cataracts, hepatomegaly, and vomiting in newborns.
88
The most common cause of acute encephalitis is:
A. Enterovirus
B. Adenovirus
C. Epstein-Barr virus (EBV)
D. Herpes simplex virus
A. Enterovirus
Rationale:
Enterovirus is the most common cause of viral encephalitis worldwide.
Herpes simplex virus (HSV-1) is the most severe cause of sporadic encephalitis, often with temporal lobe involvement.
89
All of the following tests can differentiate upper UTI from lower UTI, EXCEPT:
A. High fever
B. High ESR
C. Leukocytosis
D. Urine culture
D. Urine culture
Correct Answer: D
Rationale:
Urine culture confirms UTI and identifies the causative organism but cannot differentiate upper UTI (pyelonephritis) from lower UTI (cystitis).
High fever and leukocytosis favor upper UTI.
90
The most common cause of viral cold is:
A. Rhinovirus
B. Coronavirus
C. Adenovirus
D. Parainfluenza
A. Rhinovirus
Rationale:
Rhinovirus is the leading cause of the common cold, accounting for 30-50% of cases. Other causes include coronaviruses, adenoviruses, and parainfluenza viruses.
91
In acute pharyngitis, you can give antibiotics in what condition?
A. Acute viral pharyngitis
B. Streptococcal pharyngitis
C. Acute rheumatic fever prevention
D. All of the above
C. Acute rheumatic fever prevention
Rationale:
Antibiotics are given to treat Streptococcal pharyngitis and prevent sequelae like acute rheumatic fever, which can damage the heart valves.
92
Mucopolysaccharidoses is an abnormal accumulation of glycosaminoglycans in the connective tissue. A type of mucopolysaccharidosis with a deficiency of the enzyme iduronate-2-sulfatase is known as:
A. Hurler syndrome
B. Hunter syndrome
C. Maroteaux-Lamy syndrome
D. Scheie syndrome
B. Hunter's syndrome
Rationale:
Hunter syndrome (MPS II) is an X-linked recessive disorder caused by deficiency of iduronate-2-sulfatase.
Hurler syndrome involves alpha-L-iduronidase deficiency.
93
Fever reoccurs with toxicity. Add which antibiotic?
A. Amoxicillin
B. Clindamycin
C. Ceftriaxone
D. Azithromycin
B. Clindamycin
Rationale:
Clindamycin inhibits bacterial toxin production, making it essential for severe infections like toxic shock syndrome caused by Staphylococcus aureus.
94
A stool exam shows blood streaks, accompanied by fever and seizures. The most likely diagnosis is:
A. Salmonellosis
B. Shigellosis
C. Amoebiasis
D. Campylobacter enteritis
B. Shigellosis
Rationale:
Shigellosis presents with bloody stools, high fever, and seizures due to neurotoxic effects. It is caused by Shigella spp..
95
A 9-month-old infant presents with low-grade fever, repeated vomiting for 3 days, and frequent diarrhea. The stool test is negative for blood and leukocytes, and there is no history of contaminated food ingestion. The most likely etiologic agent is:
A. Rotavirus
B. Lactose intolerance
C. Entamoeba histolytica
D. Enterotoxigenic E. coli (ETEC)
A. Rotavirus
Rationale:
Rotavirus is the leading cause of acute watery diarrhea in infants, often accompanied by vomiting and low-grade fever.
The absence of blood or leukocytes in stool differentiates it from bacterial causes like ETEC.
96
Prior to genetic screening, all of the following should be done EXCEPT:
A. Family history
B. Laboratory testing
C. Physical examination
D. Past medical history
B. Laboratory testing
Rationale:
Before conducting genetic screening, it is essential to collect a family history, perform a physical examination, and review the past medical history to identify clues suggesting genetic conditions.
Laboratory testing is not part of the pre-screening process; it follows after sufficient history and examination.
97
If there is a family history of genetic disorders, knowing the gender of an unborn child can be important because:
A. Male children are more likely to have autosomal defects show up in their phenotypes
B. Female children are more likely to have autosomal defects show up in their phenotypes
C. Male children are more likely to have X-linked traits show up in their phenotype
D. A and C are correct
D. (A) and (C) are correct
Rationale:
Male children are more likely to express X-linked disorders because they inherit only one X chromosome from their mother (e.g., Hemophilia, Duchenne muscular dystrophy).
Male children may also have autosomal defects that manifest due to genetic predisposition.
98
What chromosomal disorder can present as bilateral cleft palate, cleft lip, and a ventricular septal defect?
A. Down syndrome
B. Edwards syndrome (Trisomy 18)
C. Patau syndrome (Trisomy 13)
D. Turner syndrome
B. Edwards syndrome (Trisomy 18)
Rationale:
Trisomy 18 (Edwards syndrome) is characterized by multiple congenital anomalies:
Craniofacial defects: Cleft lip, cleft palate
Cardiac defects: Ventricular septal defects (VSD)
Clenched fists with overlapping fingers, rocker-bottom feet, and prominent occiput.
This distinguishes it from Trisomy 13 (Patau syndrome), which also involves cleft palate but with additional midline defects like holoprosencephaly.
99
A 10-month-old infant is diagnosed with Trisomy 18, presenting with a prominent occiput, clenched fists, and "rocker-bottom feet." What are two complications that can cause death in these children?
A. Sepsis and meningitis
B. Heart failure and pneumonia
C. Respiratory distress and central apnea
D. Aspiration and cardiac malformations
B. Heart failure and pneumonia
Rationale:
The major causes of death in Trisomy 18 are:
Heart failure: Due to congenital cardiac defects like VSD, atrial septal defect, and patent ductus arteriosus.
Pneumonia: Infants with Trisomy 18 have poor respiratory mechanics and a weak immune system, making them prone to recurrent infections.
These complications are common within the first year of life.
100
VACTERL association refers to a group of anomalies often seen together. Which of the following is NOT part of this association?
A. Vertebral anomalies
B. Cardiac defects
C. Renal anomalies
D. Neurological deficits
D. Neurological deficits
Rationale:
VACTERL association includes:
V: Vertebral anomalies
A: Anal anomalies (e.g., imperforate anus)
C: Cardiac defects
TE: Tracheoesophageal fistula
R: Renal anomalies
L: Limb anomalies (e.g., radial dysplasia)
101
A mentally retarded 4-year-old boy, who was noted to be hypotonic at birth and had failure to thrive in infancy, now has a tremendous appetite, obesity, hypogonadism, and small hands and feet. The appropriate genetic mechanism is:
A. Mitochondrial inheritance
B. Mosaicism
C. Genetic imprinting
D. Sex chromosome imbalance
102
A fair-haired, mentally retarded 4-year-old child is most likely diagnosed with:
A. Angelman syndrome
B. Trisomy 21
C. Turner syndrome
D. Edwards syndrome
103
Marfan syndrome, Familial Hypercholesterolemia, and Ehlers-Danlos syndrome are examples of which type of inheritance?
A. Autosomal dominant
B. Autosomal recessive
C. X-linked recessive
D. X-linked dominant
104
Males may present with cryptorchidism, small penis, and hypogonadism. The most likely diagnosis is:
A. Noonan syndrome
B. Trisomy 21
C. Turner syndrome
D. Edwards syndrome
105
Which condition cannot be treated with gene therapy?
A. Severe combined immunodeficiency (SCID)
B. Cystic fibrosis
C. Duchenne muscular dystrophy
D. Huntington disease
106
Genomic imprinting is seen in:
A. Down syndrome
B. Angelman syndrome
C. Beckwith-Wiedemann syndrome
D. Marfan syndrome
107
Maternal uniparental disomy of chromosome 15 is seen in:
A. Prader-Willi syndrome
B. Angelman syndrome
C. Edwards syndrome
D. Patau syndrome
108
Trinucleotide repetition is seen in:
A. Fragile X syndrome
B. Huntington disease
C. Myotonic dystrophy
D. All of the above
109
The most common genetic abnormality associated with mental retardation is:
A. Fragile X syndrome
B. Angelman syndrome
C. Down syndrome
D. Rett syndrome
110
An example of a type 1 hypersensitivity reaction is:
A. Hemolytic anemia
B. Goodpasture syndrome
C. Allergic asthma
D. Serum sickness
111
A family history of allergic disease... If one parent has allergies, the risk of developing allergic disease is:
A. 10%
B. 25%
C. 50%
D. 75%
112
The prominent creases under the lower eyelids as a result of chronic edema in an atopic child are called:
A. Dennie-Morgan lines
B. Hertoghe sign
C. Atopic creases
D. Allergic shiners
113
An aggravating factor for asthma, EXCEPT:
A. Dust mites
B. Pollen
C. Cold air
D. None of the above
114
The desirable action for reducing exposure to dust mites is:
A. Encase pillows and mattresses in zippered allergen-proof covers
B. Avoid using air conditioning in the home
C. Vacuum carpets once a month
D. Keep blankets and linens in sealed plastic bags
115
Hallmark symptoms of allergic rhinitis include all of the following, EXCEPT:
A. Nasal congestion
B. Rhinorrhea
C. Sneezing
D. None of the above
116
Antihistamines are frequently used to treat allergic rhinitis. They are less helpful in treating:
A. Sneezing
B. Rhinorrhea
C. Ocular itching
D. Nasal congestion
E. Nasal itching
117
The most common reported adverse effect of first-generation antihistamines is:
A. Sedation
B. Blurred vision
C. Urinary retention
D. Dry mouth
118
Management of urticaria and angioedema. Of the following, the mainstay of pharmacologic treatment is:
A. First-generation H1 antihistamines
B. Second-generation H1 antihistamines
C. Systemic corticosteroids
D. Antileukotrienes
119
Atopic dermatitis spares which part of the body?
A. Neck
B. Arms
C. Legs
D. Diaper area
120
Food allergy most common in older children is:
A. Milk
B. Eggs
C. Peanuts
D. Shellfish
121
The emergency treatment for anaphylaxis is:
A. Antihistamines
B. Intravenous fluids
C. Intramuscular epinephrine
D. Systemic corticosteroids
122
A 7-year-old boy presents to the ER in acute respiratory distress after being stung by a bee. Physical exam shows RR 60, HR 120, BP 70/50, severe respiratory distress, wheezing, and diffuse urticarial rashes on the trunk and extremities. The best initial treatment is:
A. Inhaled corticosteroids
B. Epinephrine
C. Systemic corticosteroids
D. Antihistamines
123
Most food allergy or hypersensitivity reactions are typically outgrown, but those that persist include:
A. Milk
B. Eggs
C. Peanuts
D. Shellfish
124
Hyperthyroidism associated with multinodular goiter, precocious puberty, polyostotic fibrous dysplasia, and café-au-lait spots is known as:
A. Cushing syndrome
B. McCune-Albright syndrome
C. Turner syndrome
D. Graves' disease
125
The type of thyroid carcinoma that arises from parafollicular cells is known as:
A. Papillary carcinoma
B. Follicular carcinoma
C. Medullary carcinoma
D. Anaplastic carcinoma
126
A 16-year-old female underwent total thyroidectomy for thyroid carcinoma. What is an excellent marker for tumor recurrence that needs periodic determination?
A. Calcitonin
B. Thyroglobulin
C. TSH
D. Free T4
127
Among the thyroid carcinomas, which is the least aggressive type?
A. Medullary carcinoma
B. Papillary carcinoma
C. Anaplastic carcinoma
D. Follicular carcinoma
128
An adolescent female develops fever, palpitations, and disorientation. Examination shows exophthalmos, goiter, tachycardia, and elevated blood pressure. Lab tests reveal elevated T4 and T3 with low TSH. The BEST initial treatment is:
A. β-blockers
B. Methimazole
C. Radioactive iodine
D. Corticosteroids
129
A 6-year-old boy with disseminated infection due to Neisseria meningitidis. What is the best initial screening test that may help lead to a diagnosis?
A. Quantitative measurement of immunoglobulins
B. CBC with differential count
C. Dihydrorhodamine flow cytometry test (or NBT)
D. Total hemolytic complement (CH50)
130
A 4-year-old girl developed chickenpox about 6 days ago. She appeared to be recovering well, but her mother is concerned because she persistently scratches at several lesions and they are not healing. On examination, the child is afebrile and generally well-appearing. What is the most likely current diagnosis?
A. Tinea corporis
B. Impetigo
C. Warts
D. Contact dermatitis
131
The blood sugar of infants of diabetic mothers is monitored closely after birth to detect which condition?
A. Hyperglycemia
B. Hypoglycemia
C. Hypocalcemia
D. Polycythemia
132
Blood glucose monitoring of a 7-year-old boy with insulin-dependent diabetes mellitus revealed nocturnal hypoglycemia followed by early morning hyperglycemia. This phenomenon is known as:
A. Dawn phenomenon
B. Somogyi phenomenon
C. Reactive hypoglycemia
D. Insulin resistance
133
A 16-year-old male adolescent has delayed puberty and does not develop secondary sexual characteristics. He has normal stature for his chronological age. Examination reveals an upper-to-lower segment ratio of 0.8 (normal ratio is >0.9). Which of the following is the most important test to confirm the diagnosis?
A. Serum testosterone
B. Serum gonadotropins
C. Bone age assessment
D. Genetic karyotyping
134
A 10-year-old female with insulin-dependent diabetes mellitus was admitted for diabetic ketoacidosis. Despite hydration and insulin treatment, the patient remained stuporous. Cerebral edema is suspected with the following warning sign:
A. Tachycardia
B. Bradycardia
C. Hypertension
D. Hypotension
135
An 8-month-old infant presents with chronic diarrhea, persistent oral discharge, oral candidiasis unresponsive to antifungal drugs, exfoliative erythroderma, lymphadenopathy, hepatosplenomegaly, eosinophilia, and elevated IgE levels. The most likely diagnosis is:
A. Wiskott-Aldrich syndrome
B. Omenn syndrome
C. Severe combined immunodeficiency (SCID)
D. Hyper IgE syndrome
136
A 15-month-old male child presents with thrombocytopenic purpura, atopic dermatitis, and recurrent infections caused by cytomegalovirus. Immunoglobulin assay reveals elevated IgE and IgA levels with decreased IgM levels. The most likely diagnosis is:
A. Hyper IgE syndrome
B. Omenn syndrome
C. Wiskott-Aldrich syndrome
D. Common variable immunodeficiency
137
Type 2 diabetes mellitus can be managed with lifestyle modifications and oral hypoglycemic drugs such as metformin. However, insulin treatment is necessary when there is:
A. Persistent hyperglycemia
B. Ketonuria
C. Glycosuria
D. Polyuria
138
A 5-year-old girl developed Type 1 diabetes mellitus 6 months ago. She is on intensive control using multiple daily injections of insulin. A recent HgbA1c test is 6.5%. The most frequent complication at this age is:
A. Diabetic ketoacidosis
B. Hyperglycemia
C. Recurrent hypoglycemia
D. Microvascular complications
139
A 3-year-old girl is diagnosed with new-onset insulin-dependent diabetes mellitus. Which of the following laboratory findings is consistent with diabetic ketoacidosis?
A. Glycosuria
B. Ketones in urine
C. Elevated serum sodium
D. Normal blood pH
140
In DKA, electrolyte abnormalities occur secondary to hyperglycemia and acidosis. Which of the following electrolytes is artificially measured low in DKA?
A. Sodium
B. Potassium
C. Magnesium
D. Chloride
141
A 7-year-old girl presents with short stature, with weight at the 9th percentile and height below the 2nd percentile. Examination and investigations, including bone age, are normal and compatible with her chronological age. Her mother is 5'1" (134 cm) and her father is 5'5" (143 cm). The most likely cause of this patient’s short stature is:
A. Growth hormone deficiency
B. Constitutional growth delay
C. Familial short stature
D. Turner syndrome
142
A 3-week-old female neonate is positive in the Philippine Newborn Screening. The baby was brought to the ER due to poor suck and persistent vomiting. Upon PE, the neonate was severely dehydrated, acidotic, and had ambiguous genitalia with clitoromegaly. What is your diagnosis?
A. Turner syndrome
B. Congenital adrenal hyperplasia
C. Hypothyroidism
D. Androgen insensitivity syndrome
143
A 2-year-old boy diagnosed with Tetralogy of Fallot presents with an acute febrile illness treated with antibiotics. Over the past 12 hours, he developed severe headache, nystagmus, and ataxia, and appears lethargic. What is the most likely diagnosis?
A. Aseptic meningitis
B. Tuberculous meningitis
C. Bacterial meningitis
D. Brain abscess
144
A 12-year-old boy develops weakness in his lower extremities 12 days after a mild URI. Over several days, the weakness progresses to include his trunk. PE reveals lower extremity muscle weakness, absent deep tendon reflexes, no muscle atrophy, and no pain. CSF analysis shows elevated protein only. The most likely diagnosis is:
A. Duchenne muscular dystrophy
B. Guillain-Barré syndrome
C. Charcot-Marie-Tooth disease
D. Werdnig-Hoffmann disease
145
A 16-year-old female presents with primary amenorrhea, height below the 3rd percentile, and Tanner Stage I. What diagnostic test will you request to confirm your diagnosis?
A. Bone age assessment
B. Serum gonadotropins
C. Pelvic ultrasound
D. Chromosomal analysis
146
What is the typical age of onset of puberty in girls?
A. 6–7 years old
B. 8–9 years old
C. 10–11 years old
D. 12–13 years old
147
Primary amenorrhea characterized by congenital absence of the uterus with normal breasts, ovaries, and pubic hair is known as:
A. Turner syndrome
B. Rokitansky syndrome
C. Androgen insensitivity syndrome
D. Congenital adrenal hyperplasia
148
Dihydrotestosterone is needed for the development of male external genitalia (penile enlargement, scrotal fusion, pubic hair). What is the enzyme that converts testosterone to dihydrotestosterone?
A. Aromatase
B. 5α-reductase
C. 17β-hydroxysteroid dehydrogenase
D. 21-hydroxylase
149
A 4-year-old girl with a history of recurrent abscesses, osteomyelitis, and pneumonia due to Aspergillus. The most likely diagnosis is:
A. Myeloperoxidase deficiency
B. Leukocyte adhesion deficiency
C. Chronic granulomatous disease (CGD)
D. Chediak-Higashi syndrome
150
Psoriasis is a skin disorder characterized by plaques with thick, silvery or yellow-white scales, which when removed may result in pinpoint bleeding. This finding is called:
A. Auspitz sign
B. Pityriasis rosea
C. Disorder of keratinization
D. Napkin dermatitis
151
Disorders of sex differentiation (DSD) are suggestive based on the following criteria:
A. Ambiguous genitalia
B. A discrepancy between karyotype and phenotype
C. Hormonal abnormalities
D. All of the above
152
This type of diabetes mellitus has impaired insulin secretion due to autoimmune destruction of beta cells:
A. Type 2 diabetes mellitus
B. Maturity-onset diabetes of the young
C. Insulin-dependent diabetes mellitus (Type 1)
D. Gestational diabetes mellitus
153
The mother of a 1-year-old boy is concerned about the family’s history of food allergies. Which of the following are most likely to cause food allergies in children?
A. Chocolate
B. Peanut
C. Citrus fruits
D. Tomatoes
154
A 7-year-old girl presents to the clinic with a 3-4 month history of thickened, yellow 4th and 5th toenails and scaling between the toes. What is the best treatment for this problem?
A. Surgical removal of affected nails
B. Topical clotrimazole
C. Oral terbinafine
D. Topical corticosteroids
155
A 16-year-old female with a BMI of 30 consulted due to irregular menstruation. She had her menarche at 12 years old. Physical examination revealed the presence of acne, hyperpigmentation, and acanthosis nigricans. What is the probable diagnosis?
A. Metabolic syndrome
B. Turner syndrome
C. Polycystic ovarian syndrome (PCOS)
D. Hypothyroidism
156
A mother brought her 1-month-old baby to your clinic due to constipation. Upon physical examination, you noted a wide fontanelle, macroglossia, and umbilical hernia. What in the Philippine Newborn Screening will turn out positive?
A. Congenital adrenal hyperplasia
B. Phenylketonuria
C. Galactosemia
D. Congenital hypothyroidism
157
A 6-month-old female infant has small erythematous pruritic papules on the chest and neck during the summer. The infant is most likely suffering from:
A. Seborrheic dermatitis
B. Pityriasis rosea
C. Miliaria rubra
D. Contact dermatitis
158
A 3-year-old girl presents with erythematous papules in a “Christmas tree” distribution on the trunk. Her mother is concerned because this has been ongoing for over 2 weeks. What is the most likely diagnosis in this case?
A. Seborrheic dermatitis
B. Miliaria rubra
C. Contact dermatitis
D. Pityriasis rosea
159
The major components of host defense include anatomic barriers and the innate and adaptive immune systems. The adaptive immune system is made up of:
A. Neutrophils and macrophages
B. T and B lymphocytes
C. Natural killer cells and eosinophils
D. Dendritic cells and mast cells
160
Malabsorption and infections with opportunistic pathogens such as fungi, Candida species, and Pneumocystis jiroveci suggest:
A. B-cell defects
B. T-cell defects
C. Complement defects
D. Phagocyte defects
161
Delayed separation of the umbilical cord, absence of pus at infection sites, and poor wound healing suggest:
A. Chronic granulomatous disease
B. Leukocyte adhesion defects
C. X-linked agammaglobulinemia
D. Severe combined immunodeficiency
162
Selective IgA deficiency is defined as serum IgA levels less than 10 mg/dL with normal levels of other immunoglobulins. The diagnosis cannot be confirmed until the patient is at least:
A. 2 years of age
B. 4 years of age
C. 6 years of age
D. 8 years of age
163
A 1.5-year-old male presents with vomiting, fever, and irritability. On examination, his temperature is 40°C. He is lethargic, has atrophied tonsils, a clear tympanic membrane, and neck stiffness. The parents report a history of pneumonia at 6 and 9 months of age requiring IV antibiotics. The MOST likely diagnosis is:
A. Selective IgA deficiency
B. Common variable immunodeficiency
C. X-linked agammaglobulinemia
D. Hyper IgE syndrome
164
An 8-month-old infant presents with chronic diarrhea, persistent right ear discharge, oral candidiasis unresponsive to antifungal drugs, failure to thrive, exfoliative erythroderma, lymphadenopathy, and hepatosplenomegaly. Peripheral blood shows persistent leukocytosis with eosinophilia and elevated IgE. The parents are first cousins, and he is their first baby. The most likely diagnosis is:
A. Omenn syndrome
B. Hyper IgE syndrome
C. Severe combined immunodeficiency (SCID)
D. Wiskott-Aldrich syndrome
165
In disseminated intravascular coagulation (DIC), which of the following is reduced?
A. Prothrombin time
B. Partial thromboplastin time
C. D-dimer
D. Fibrinogen
E. Bleeding time
166
All of the following are treatment options for immune thrombocytopenia (ITP) EXCEPT:
A. Steroids
B. Androgens
C. Anti-D immunoglobulin
D. Intravenous immunoglobulin (IVIG)
E. Splenectomy
167
An 8-year-old child with coarse facial features, delayed shedding of primary teeth, and lower limb fractures presents with recurrent staphylococcal skin abscesses and eczema. Blood tests show exceptionally high serum IgE concentration. The most likely diagnosis is:
A. Hyper IgM syndrome
B. Omenn syndrome
C. Job syndrome
D. Common variable immunodeficiency
168
A 5-month-old infant presents with reluctance to feed, lethargy, abdominal distension, severe gingivitis, and a history of non-purulent omphalitis with delayed separation of the umbilical stump at 2 months. Peripheral smear shows neutrophil count 24,000/mm³. The MOST likely diagnosis is:
A. Chronic granulomatous disease
B. Severe combined immunodeficiency
C. Leukocyte adhesion deficiency
D. Hyper IgE syndrome
169
In hypothalamic disease, which pituitary hormone is increased?
A. Growth hormone
B. Thyroid-stimulating hormone
C. Prolactin
D. Adrenocorticotropic hormone
170
A fasting blood sugar (FBS) test shows 110 mg/dl, with other glucose tests being normal. What is the condition?
A. Normal glucose tolerance
B. Impaired fasting glucose
C. Diabetes mellitus
D. Insulin resistance
171
The most common cause of iron deficiency among Filipino children is:
A. Hookworm infection
B. Prematurity
C. Inadequate dietary intake
D. Menstrual losses
172
The major short-term complication of childhood leukemia is:
A. Bone marrow suppression
B. Infertility
C. Neuropathy
D. Growth delay
173
The least effective factor in the prognosis of acute lymphoblastic leukemia (ALL) is:
A. Age
B. Initial WBC count
C. Gender
D. Cytogenetic abnormalities
174
A classic example of a type III (immune complex) hypersensitivity reaction is:
A. Serum sickness
B. Allergic asthma
C. Contact dermatitis
D. Hemolytic anemia
175
A family history of allergic disease is often present in atopic patients. If one parent has allergies, the risk that a child will develop an allergic disease is:
A. 10%
B. 25%
C. 50%
D. 70%
176
A 7-year-old boy presents with mild pallor and slight yellowish sclera since early childhood. He has a palpable spleen and a family history of repeated blood transfusions in childhood relieved with splenectomy. The most likely diagnosis is:
A. Autoimmune hemolytic anemia
B. Hereditary spherocytosis
C. Acute leukemia
D. Hemolytic uremic syndrome
177
An 8-year-old boy presents with recurrent skin ecchymoses, café-au-lait spots, microcephaly, and an absent thumb. The most likely diagnosis is:
A. Neurofibromatosis
B. Fanconi anemia
C. Peutz-Jeghers syndrome
D. Sickle cell anemia
178
Disorders associated with elevated IgE include all the following EXCEPT:
A. Hyper IgE syndrome
B. Allergic bronchopulmonary aspergillosis
C. Chediak-Higashi syndrome
D. Atopic dermatitis
179
Essential actions for reducing exposure to dust mites include:
A. Using air purifiers
B. Washing bedding monthly in cold water
C. Encase pillow and mattress covers in zippered allergen-proof encasement
D. Avoid using carpets in the home
180
Intranasal corticosteroids are the most potent pharmacologic therapy for the treatment of allergic and nonallergic rhinitis. They are less helpful for symptoms of:
A. Nasal congestion
B. Rhinorrhea
C. Conjunctival injection
D. Sneezing
181
Antihistamines are the medications most frequently used to treat allergic rhinitis. They are less helpful in treating:
A. Sneezing
B. Rhinorrhea
C. Nasal congestion
D. Ocular itching
182
Children with allergic rhinitis have symptoms of reactive airway disease/asthma in approximately:
A. 25%
B. 50%
C. 75%
D. 90%
B. 50%
Rationale:
Around 50% of children with allergic rhinitis have asthma or reactive airway disease due to shared mechanisms of atopy and inflammation.
Allergic rhinitis is an IgE-mediated condition that often coexists with asthma, termed "allergic march" or "atopic triad" (eczema, allergic rhinitis, and asthma).
183
Approximately 35% to 40% of infants and young children with moderate to severe atopic dermatitis have coexisting food allergies. The most common cause of food-induced eczematous reactions is allergy to:
A. Milk
B. Egg
C. Peanuts
D. Soy
Answer: B. Egg
Rationale:
Egg allergy is the most common trigger for food-induced eczema in infants with moderate to severe atopic dermatitis.
Other allergens include milk, soy, peanuts, wheat, fish, and tree nuts.
183
The clinical manifestations of atopic dermatitis vary with age. In infants, atopic dermatitis usually spares what part of the body?
A. Face
B. Arms
C. Legs
D. Diaper area
D. Diaper area
Rationale:
The diaper area is typically spared in infantile atopic dermatitis due to the moisture in this area, which reduces transepidermal water loss.
Common areas affected: cheeks, scalp, extensor surfaces (elbows and knees).
184
The BEST drug for reducing intracranial pressure is:
A. Furosemide
B. Mannitol
C. Corticosteroids
D. Acetazolamide
B. Mannitol
Rationale:
Mannitol, an osmotic diuretic, reduces intracranial pressure by drawing water out of brain cells into the bloodstream, reducing cerebral edema.
Furosemide can be used adjunctively but is less effective for immediate ICP reduction.
185
Anaphylaxis is a medical emergency; prompt recognition and immediate treatment are crucial. The mainstay of therapy is the early administration of:
A. Antihistamines
B. Intravenous fluids
C. Intramuscular epinephrine
D. Systemic corticosteroids
C. Intramuscular epinephrine
Rationale:
Intramuscular epinephrine (0.01 mg/kg) is the first-line treatment for anaphylaxis.
It rapidly reverses airway obstruction, hypotension, and edema by acting on α and β-adrenergic receptors.
186
Food allergy or hypersensitivity reactions are the result of immune reactions to glycoproteins and develop in genetically predisposed individuals. In older children and adults, the item which accounts for most reactions is:
A. Eggs
B. Peanuts
C. Milk
D. Shellfish
B. Peanuts
Rationale:
Peanuts are the most common cause of food allergy in older children and adults, followed by tree nuts, fish, and shellfish.
187
Most food allergy or hypersensitivity reactions are typically outgrown, but those that persist include:
A. Milk
B. Peanuts
C. Eggs
D. Shellfish
D. Shellfish
Rationale:
While many food allergies (e.g., milk, egg) are outgrown, shellfish and peanut allergies often persist into adulthood.
188
The standard method for diagnosis of food allergy, which can be performed to determine whether a child can eat the food safely, is:
A. Skin prick testing
B. Blood IgE level measurement
C. Oral food challenges
D. Elimination diet
C. Oral food challenges
Rationale:
The oral food challenge is the gold standard for diagnosing food allergies and determining tolerance.
Other tests (skin prick, blood IgE) have lower specificity.
189
The primary event in the development of acne lesions is the formation of:
A. Inflammatory papules
B. Nodules
C. Microcomedones
D. Pustules
C. Microcomedones
Rationale:
Microcomedones form as the earliest event due to hyperkeratosis and plugging of hair follicles.
This leads to the development of inflammatory papules, pustules, and nodules.
190
Effective treatment of acne focuses on minimizing sebum production, hyperkeratosis, and bacterial proliferation. Of the following, the most effective treatment that can be used as monotherapy for acne is:
A. Topical antibiotics
B. Oral retinoids
C. Topical retinoids
D. Benzoyl peroxide
C. Topical retinoids
Rationale:
Topical retinoids (e.g., tretinoin, adapalene) are the cornerstone of acne treatment:
Normalize keratinization.
Reduce microcomedone formation.
Have anti-inflammatory effects.
191
Definitive diagnosis of sarcomas includes:
A. Chest scan
B. Bone scan
C. Bone marrow biopsy
D. MRI
C. Bone marrow biopsy
Rationale:
A bone marrow biopsy provides definitive histopathological confirmation of sarcomas, including bone tumors like Ewing sarcoma.
Imaging (e.g., MRI, bone scan) is useful for localization but not definitive.
192
All of the following affect PTT (partial thromboplastin time) EXCEPT:
A. DIC
B. Hemophilia
C. Von Willebrand disease
D. Factor VII deficiency
193
A 4-month-old male infant is brought to your clinic with a persistent nappy rash unresponsive to topical agents. The rash is suspected to be caused by Candida albicans. Which of the following characterizes nappy dermatitis caused by Candida albicans?
A. Limited to non-intertriginous areas
B. Primarily affecting intertriginous areas
C. Sparing the intertriginous areas
D. Causing scaling without erythema
194
Seborrheic dermatitis is a common chronic inflammatory disease with different presentations across age groups. In adolescence, it is typically localized to the:
A. Scalp
B. Face
C. Chest
D. Back
195
A 1-month-old male infant develops a greasy, erythematous scale on the scalp. Examination reveals a thick greasy and waxy yellow-white patch involving the vertex of the scalp. The best initial treatment for this infant is:
A. Topical antifungal cream
B. Olive oil massage followed by shampooing
C. Corticosteroid ointment
D. Oral antifungal medication
196
Pityriasis rosea is characterized by the appearance of a solitary oval patch followed by multiple red scaly macules. The peak incidence usually occurs during:
A. Infancy
B. Early childhood
C. Adolescence
D. Late adulthood
197
Psoriasis is a common papulosquamous condition that occurs at all ages and in various subtypes. The most common variety of psoriasis is:
A. Guttate psoriasis
B. Psoriasis vulgaris
C. Inverse psoriasis
D. Pustular psoriasis
198
A 9-year-old girl develops plaque-type psoriasis involving the extensor surfaces of the elbow and knee joints, posterior occipital scalp, and lumbosacral region. Which of the following medications should be avoided for this girl?
A. Oral corticosteroids
B. Topical corticosteroids
C. Vitamin D analogs
D. Methotrexate
A. Oral corticosteroids
Rationale:
Oral corticosteroids can trigger severe psoriasis flares or cause pustular psoriasis upon withdrawal.
Topical corticosteroids, vitamin D analogs, and methotrexate are effective treatments for plaque psoriasis.
199
The most common clinical presentation of Hodgkin disease in children is painless lymph node enlargement of which region?
A. Mediastinal
B. Cervical
C. Abdominal
D. Inguinal
E. Axillary
B. Cervical
Rationale:
Cervical lymphadenopathy is the most common presentation of Hodgkin lymphoma in children.
It is typically painless and associated with systemic "B symptoms" such as fever, weight loss, and night sweats.
200
The most common site for metastasis of osteosarcoma is:
A. Kidneys
B. Bone marrow
C. Lungs
D. Liver
C. Lungs
Rationale:
Osteosarcoma commonly metastasizes to the lungs due to the high vascularity of pulmonary tissue.
Other sites may include bone marrow, but the lungs are the most frequent site.
201
The most sensitive test for diagnosing osteomyelitis is:
A. X-ray
B. CT scan
C. Bone scan
D. MRI
D. MRI
Rationale:
MRI has the highest sensitivity (90%) and specificity (60–90%) for detecting osteomyelitis.
Early changes like bone marrow edema can be identified before they appear on X-ray or CT.
202
WAGR syndrome includes the following features:
A. Wilms tumor, aniridia, genitourinary malformations, and mental retardation
B. Wilms tumor, adrenal hyperplasia, growth retardation, and mental retardation
C. Wilms tumor, ataxia, gonadal dysgenesis, and renal failure
D. Wilms tumor, aniridia, glaucoma, and renal failure
203
Eruption due to scabies is characterized by papules involving many sites of the body with sparing of the face and scalp. In which of the following age groups are these sites usually involved?
A. Neonates
B. Infants
C. Adolescents
D. Adults
B. Infants
Rationale:
In infants, scabies commonly affects intertriginous areas, but the face and scalp may also be involved.
This differs from adults, where the face and scalp are typically spared.
204
Pediculoses may infest humans by direct contact or indirect spread through personal utensils and clothes. Which of the following manifestations indicates active infestation?
A. Clear nits
B. Brown nits
C. Itching without visible nits
D. Inflamed scalp
B. Brown nits
Rationale:
Brown nits indicate live lice eggs and active infestation.
Clear nits are nonviable or hatched eggs.
205
Proptosis is commonly associated with:
A. Neuroblastoma
B. Wilms tumor
C. ALL
D. Osteosarcoma
A. Neuroblastoma
Rationale:
Neuroblastoma can cause proptosis due to orbital metastasis or retrobulbar tumor involvement.
Wilms tumor, ALL, and osteosarcoma do not typically present with proptosis.
