A 17-year-old primigravida gives birth at 34 weeks’ gestation to a male infant of low birth weight. The infant is given exogenous surfactant and does not develop respiratory distress. On the third day of life, physical examination reveals hypotension, abdominal distention, and absent bowel sounds, and there is bloody stool in the diaper. A radiograph shows pneumatosis intestinalis and abdominal free air. What do you think of the diagnosis?
Necrotizing enterocolitis
An 18-year-old woman gives birth to a term infant after an uncomplicated pregnancy and delivery. Over the first 2 days of life, the infant becomes mildly icteric. On physical examination, there are no morphologic abnormalities. Laboratory studies show a neonatal bilirubin concentration of 4.9 mg/dL. The direct Coombs test of the infant’s RBCs yields a positive result. The infant’s blood type is A negative, and the mother’s blood type is O positive. What type of bilirubin is present in child’s blood?
Unconjugated
Amniotic Band Syndrome is a congenital birth defect believed to be caused by entrapment of fetal parts (usually a limb or digits) in________________ while in utero
fibrous amniotic bands
Potter sequence: typical physical appearance and is associated with_______________(1) of a neonate as a direct result of ____________(2) and compression while in utero
- pulmonary hypoplasia 2. oligohydramnios
Oligohydramnios (decreased amniotic fluid) is caused by___________ and ___________
Renal Agenesis, Amniotic leak
The position of delivery of the child in potters is_____________
Breech Presentation
An infant born prematurely at 28 weeks gestation is immediately noticed to be tachypneic and cyanotic following birth. A presumptive diagnosis of NRDS is made based on the clinical picture and chest CT, and treatment is initiated. Which of the following organelles and cell types are involved in this clinical picture?
- Lamellar bodies - type I pneumocytes 2. Mitochondria - type II pneumocytes 3. Lamellar bodies - type II pneumocytes 4. Endoplasmic reticulum - type I pneumocytes 5. Plasma membrane - type II pneumocytes
Lamellar bodies - type II pneumocytes
A P2G1 diabetic woman is at risk of delivering at 29 weeks gestation. Her obstetrician counsels her that there is a risk the baby could have significant pulmonary distress after it is born. However, she states she will give the mother corticosteroids, which will help prevent this from occurring. Additionally, the obstetrician states she will perform a test on the amniotic fluid which will indicate the likelihood of the infant being affected by this syndrome. Which of the following ratios would be most predictive of the infant having pulmonary distress?
Lecithin: sphingomyelin ratio
Lecithin: sphingomyelin ratio < 1.5
A cyanotic neonate. Following is the blood gas following 100% oxygen therapy. Before: PO2=30% After: PO2=35%
What is the likely explanation of this finding?
Hyalin membrane disease/diffusion defect
A cyanotic neonate. Following is the blood gas following 100% oxygen therapy. Before: PO2=30% After: PO2=50%
X-Ray chest attached.
What is the likely explanation of this finding?
Pulmonary stenosis/perfusion defect likely
1.Retrolental fibroplasia is due to___________________
(high concentration of O2 produces free radicals)
Necrotizing enterocolitis (NEC), which typically occurs in the __________week of life in ___________, _________-fed infants.
second to the third Week
premature
formula
NEC, The Underlying pathology is_______
intestinal ischemia
In NEC septic and shock is caused by_______
1.Platelet-activating factor (PAF) → by promoting enterocyte apoptosis → sepsis and shock
NEC:
Gangrene of the intestine
Involves________ (parts of GIT)
terminal ileum, cecum and right colon
Fetal hydrops refers to the accumulation____________in the
fetus during intrauterine growth.
accumulation of edema fluid (transudate)
Fetal Hemolysis: Mother forms _____ antibodies which cross the placenta and destroy fetal RBCs (______ hypersensitivity)
IgG
Type 2
A 19-year-old woman is G2 P1. Her previous gestation resulted in a normal term birth at home. Her current pregnancy results in the birth of a 2990 gm baby at 35 weeks. At birth, the infant appears hydropic and icteric, but no congenital anomalies are present. The baby’s hemoglobin is 8.5 g/dL. The placenta is also hydropic, but microscopic examination of the placenta shows no inflammation of either fetal membranes or placental villi, and there is no meconium staining.
Which of the following mechanisms is the most likely explanation for these events?
A Maternal rubella infection in the first trimester
B A maternal chromosomal abnormality
C Maternal antibodies crossing the placenta
D Elevated maternal serum glucose
E Increased maternal phenylalanine levels
C Maternal antibodies crossing the placenta
Cystic hygromas are characteristically seen, but not limited to, constitutional chromosomal anomalies such as ————karyotypes
45,X0
Anemia → —————— → increased hydrostatic pressure → edema and anasarca, →hydrops fetalis
high output Cardiac failures
Anemia → ————— → decreased plasma oncotic pressure → edema and anasarca, →hydrops fetalis
Liver hypoxia
CF=The carrier frequency in the United States is ———–among Caucasians but significantly lower in African Americans, Asians, and Hispanics.
1 in 20
Even heterozygote carriers (__________) have a higher incidence of respiratory and pancreatic diseases
mention %
2-4%
CYSTIC FIBROSIS IN SKIN: Chloride channel defect in the sweat duct causes increased _____________________concentration in sweat
chloride and sodium
In the airway, cystic fibrosis patients have__________chloride secretion and __________sodium and water reabsorption leading to _______ of the mucus layer coating epithelial cells
decreased
increased
DEHYDRATION
CF= Bronchiectasis •Infection commonly caused by ——
Pseudomonas
CF PANCREAS:
-_________ of ducts leads to cystic dilatation, AND ___________ of exocrine pancreas acini.
Mucous plugging
Atrophy
Pancreatic insufficiency, a feature of classic cystic fibrosis, is virtually always present when there are CFTR mutations with abnormal ______________conductance.
bicarbonate
Deficiency of fat-soluble vitamins A would lead to__________
Sq metaplasia
decreased night vision
Deficiency of fat-soluble vitamins D would lead to__________
osteomalacia
fracture
Deficiency of fat-soluble vitamins D in renal failure is also known as __________
Renal osteodystrophy (osteomalacia)
Deficiency of fat-soluble vitamins K would lead to__________
bleeding, deficiency of clotting factors- 2,7,9 and 10.
CF. Chronic inflammation with scarring leads to a metabolic disease __________.
Diabetes mellitus
Meconium ileus: infants present with abdominal distension, failure to pass ___________, and emesis.
stools
cystic fibrosis has higher levels of salt than normal -more than ——
60 mmol/L
Clinical feature of Pyloric stenosis- ———–vomiting, no stool
projectile
Clinical feature of Duodenal Artesia seen in- ———— vomiting +
Downs syndrome
Intussusceptions ((constipation ( < 12 months)) is caused by
Diarrhea
Swollen payers patches
SIDS: the sudden death of an infant under ___________of age which remains unexplained after a thorough case investigation, including a performance of a complete autopsy, examination of the death scene, and review of the clinical history
1 year
1=
2=
3=
Please see the attached image and answer the above:-
2-4 months
Preterm, maternal smoking
Prone, overheating, bed sharing, head covering
Sudden Infant Deah Syndrome•Non-specific autopsy findings are:-
–_______________
Multiple petechiae, Pulmonary congestion ± pulmonary edema
A 27-year-old male presents with an unprovoked convulsive episode. Medical history is noncontributory. Family history is significant for clear cell renal cell carcinoma in his father, resulting in death. The exact cause of his paternal grandfather’s death is unclear, but is thought to be due to a “bleed in the brain.” Head CT is performed.
What do you think?
Think VHL
A 21-year-old female presents to the family physician with 3 weeks of headaches, sweating, and palpitations. Her BP was 160/125 mmHg, and a 24-hour urine test revealed elevated vanillymandelic acid (VMA) and normetanephrine. Past medical history is notable for bilateral retinal hemangioblastomas, and family history is significant for three generations (patient, mother, and maternal grandfather) with similar symptoms. Genetic analysis revealed a mutation of a gene on chromosome 3p. Which of the following is the patient at risk of developing?
CCC (RCC)
Lack of VHL activity prevents ubiquitination and degradation of ___________and is associated with increased levels of ___________.
HIF-1
angiogenic growth factors (VEGF)
•Germline mutations of the VHL gene is associated with
–Hereditary bilateral renal cell cancers
–Pheochromocytomas
–Hemangioblastomas of the central nervous system
–Retinal angiomas
–Renal Cysts
•Glomus tumor is:
–benign, ____________, red-blue tumor formed from arteriovenous shunts
•found under the fingernails
–derived from ______________of glomus body
painful
smooth muscle cells
Lynphangioma- Histology: Numerous dilated channels lined by _____________and contain ____________cells.
flattened endothelium
lymphoid
‘Small Blue Round Cell’ Tumor is named because of high _____________ratio. Microscopically similar cells with certain differences. Always malignant.
high N/C
A 4-year-old girl is brought to the emergency room after her parents felt an abdominal mass during her bath. She complains of headaches. On physical exam, her eyes jerk around erratically. Her feet also twitch occasionally. The abdominal mass is irregular, firm, and clearly crosses the midline. An MRI of her head shows potential metastasis to the skull. What do you think?
Neuroblastoma
Neuroblastoma-If arise from sympathetic ganglia (neural crest origin) is known as-
paraganglioma
Larger cells having more abundant cytoplasm with large vesicular nuclei & prominent nucleoli, representing ganglion cells in various stages of maturation admixed with neuroblasts- diagnosis?
Ganglioneuroblastoma
Neuroblastoma staging
•Stage 4S (“S” = special): Localized primary tumor (as defined for stages 1, 2A, or 2B) with dissemination limited to ____, _____, and/or _________; stage 4S is limited to infants younger than 1 year.
skin
liver
bone marrow
Neuroblastoma- Imaging131I-MIBG body scan to detect__________
metastasis
A 15-month-old male is brought in to his pediatrician for a routine exam. On exam, his pediatrician notices that he has no irises, consistent with aniridia. He is also found with a palpable, non-tender mass on the left side of his abdomen. On further questioning, his mother reveals that her cousin had a similar abdominal mass at a young age. The patient and his mom are referred to pediatric surgeons for further management. An abdominal CT scan is obtained. Diagnosis?
Wilms
A 2-year-old girl is brought to the emergency room after her mother discovers a mass in the girl’s abdomen while bathing. The girl occasionally cries when urinating, but is otherwise asymptomatic, without any abdominal pain. On exam, she is found to be hypertensive. There is a palpable, non-tender mass on the right side, which does not cross the midline. A chest radiograph is ordered to assess for lung involvement. Diagnosis?
Nephroblastoma
WAGR syndrome is consisting of :_______________
WT 1 is a tumor suppressor, is deleted
Wilm’s Tumor, Aniridia, Genital anomalies, Mental Retardation
Denys-Drash syndrome is consisting of:
Characterized by________________
gonadal dysgenesis and early onset nephropathy
Beckwith-Weidemann syndrome is consisting of
- ____________________________
- WT 2, second Wilms’ tumor locus is deleted neonatal hypoglycemia.
Enlargement of body organs: macroglossia, hemihypertrophy, omphalocele, adrenal cytomegaly
Wilms histology is—-
Mixed tumor: (blastemal, epithelial, and stromal cells) Various tissue components and all derive from one germ cell
A newborn male is diagnosed with unilateral retinoblastoma. Molecular analysis of enucleated tumor cells reveals loss of both normal alleles of Rb gene. In comparison, skin fibroblasts of the patient do not show any abnormality at the Rb locus.
Familial or Sporadic?
Sporadic- both mutation in retinoblast
Normal P53
prevents a cell from entering ____ phase
leads to inhibition of kinase activity of Cdk4 via _______
can induce apoptosis if cell damage is severe
•via the __________gene (proapoptotic)
inhibits __________antiapoptosis gene
stimulates the release of _____________from mitochondria
S
p21
bax
BCL2
cytochrome c
•Rb
prevents cell from entering S phase
binds __________to block its function as a transcription factor
E2F
Histology of Flexner-Wintersteiner rosette is
•Rosette with a central lumen and pink fibrillary back ground
A painful vascular tumor on the nail bed
Glomous tumor
from modified Smooth muscle- thermoregulation
Bacillary angiomatosis
What is this lesion?
Bacillary angiomatosis is a vascular, proliferative form of Bartonella infection
