Exam II Flashcards

(283 cards)

1
Q

Brittle bone disease is formally called what?

A

Osteogenesis imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Is Osteogenesis imperfecta autosomal dominant or recessive?

A

dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What disease involves mutation in alpha 1 and 2 chain of type 1 collagen?

A

Osteogenesis imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What type, I-IX of Osteogenesis imperfecta is most common?

A

Type I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What type, I-IX of Osteogenesis imperfecta is more severe?

A

Type II (prenatal lethal)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What types, I-IX, of Osteogenesis imperfecta are characterized by moderate-severe sx w/. characteristic of everything in between?

A

Type III-IX

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Pt presents w/ blue sclerae, opalescent teeth, progressive hearing loss and excessive/atypical fractures. What disease are you concerned about?

A

Osteogenesis imperfecta

Other sx: short stature, bow legs, scoliosis (breathing difficulty), basilar skull deformity (spinal cord concerns)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Imaging for Osteogenesis imperfecta will show what?

A
  1. FX at various stages of healing (may be misdiagnosed as child abuse, so FHx is key!)
  2. Wormain bones (extra bones w/in suture bones)
  3. Codfish vertebrae (compression fx: bi-concave)
  4. Osteopenia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the leading cause of childhood death in the US?

A

Injuries

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Large heads in comparison to body size, weak neck muscles, think skulls, physically uncoordinated, and lack of cognitive ability contributes to what peds injury?

A

Head injuries

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Weak neck muscles place peds at risk for what specific type of head injury, and leading to what?

A

Acceleration-deceleration injuries

Lead to shearing forces, injury to neurons and vascular structures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What ages contribute to the bimodal distribution of head injuries?

A

> 8 yrs and < 1 yr

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are concerning signs/ hx for head injuries?

A

Excessively sleepy/ hard to arouse
Vomiting
Irritability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

The primary survey on PE for head injuries includes what?

A

ABC’s (airway, breathing, circulation)
Neuro status (GCS)
Vital signs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is Cushing’s triad with respect to head injuries?

A

Wide pulse pressure
Bradycardia
Abn respirations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What score on Glaslow Coma Scale (GCS) is indicative of good recovery? Poor prognosis?

A
8+ = good recovery
3-5 = poor prognosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Checking for c-spine alignment, fundoscopic exam, hematomas, step-offs, crepitus, lacerations, fontanels, basilar skull fracture + eval of the rest of the body is included in what?

A

Secondary survey on PE for head injuries

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Battle’s sign, periorbital ecchymosis, hemotympanum, and otorrhea/ rhinorrhea are indicative of what?

A

Basilar skull fracture

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Decision rules for necessity of a CT for head injuries include what?

A

PECARN
CATCH
CHALICE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What diagnostic studies are used for head injuries?

A

X-ray and CT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What criteria typically indicate the necessity of a CT for head injuries? (9)

A
  1. GCS < 15, AMS
  2. Signs of skull fracture
  3. Vomiting > 3x
  4. Seizure
  5. < 2 yo
  6. Non frontal scalp hematoma
  7. LOC > 5 sec
  8. Severe mechanism
  9. “Not acting right”, lethargic
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is the prognosis for a pt with a subdural hematoma?

A

Poor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Parent presents w their child who has a hx of a head injury and has been experiencing LOC, with lingering sxs such as irritability, lethargy, bulging fontanelle and vomiting. What should you be concerned about?

A

Subdural hematoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

CT of a pt with a subdural hematoma will show what?

A

Crescent-shaped

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Does a subdural hematoma cross or not cross the suture lines?
Crosses suture lines
26
What is the prognosis for a pt with an epidural hematoma?
Better (than subdural)
27
CT of a pt with an epidural hematoma will show what?
Elliptical shaped
28
Does an epidural hematoma cross or not cross the suture lines?
Does not cross sutures
29
Parent presents w their child who has a hx of a head injury and has been experiencing brief LOC, lucid period, followed by deterioration. What should you be concerned about?
Epidural hematoma
30
What type of brain injury involves the space between the dura and arachnoid membrane and tearing of bridging veins?
Subdural hematoma
31
What type of brain injury is defined as a rupture of the arteries?
Epidural hematoma
32
What type of brain injury is defined as injury to the parenchymal and subarachnoid vessels?
Subarachnoid hemorrhage (SAH)
33
CT of a pt with a subarachnoid hemorrhage (SAH) will show what?
Small, dense "slivers"
34
What is the most common bleed of the brain?
Subarachnoid hemorrhage (SAH)
35
In what case would management of a head injury involve head injury precautions such as education, monitoring of sxs and sleeping is okay?
No ICH, no skull fracture
36
In what case would management of a head injury involve a neuro consult and possible admission to the PICU?
Postive ICH +/- skull fracture
37
A mild traumatic brain injury is aka?
Concussion
38
What is defined as a traumatically induced alteration in mental status with or without an associated loss of consciousness?
Mild traumatic brain injury (concussion)
39
The following sxs are associated with what head injury? Amnesia Confusion/ blunted affect, distractibility Delayed response Emotional liability Visual changes Repetitive speech pattern
Mild traumatic brain injury (concussion)
40
What 3 absolute guidelines should be followed for the treatment of a mild traumatic brain injury (concussion) in addition to physical/ cognitive rest?
No same-day return to play Completely sx free to return Absolutely no sports for 1-2 weeks
41
Other mild sxs of mild traumatic brain injury (concussion) such as HA and mental fogginess typically resolve in how long?
7-10 days
42
Sx of a mild traumatic brain injury (concussion) lasting longer than 3 months are defined as what?
Post-concussive syndrome
43
Children are at increased risk for what syndrome that involves a 2nd concussion within weeks followed by brain swelling, herniation and death?
Second impact syndrome
44
Multiple concussions, permanent change in mood/ behavior/ pain are defined as what?
Chronic traumatic encephalopathy
45
With respect to cervical spine injuries, what is most common in adolescents?
Spinal Cord Injuries Without Radiographic Abnormalities (SCIWORA)
46
What is the diagnostic test of choice for cervical spine injuries?
MRI
47
What are concerning signs of a cervical spine injury that indicate a worse prognosis?
Bilateral pain Neuro deficits Torticollis Bony abnormalities
48
What is important with regards to documentation of fractures?
Always document neurovascular status before and after splinting/ reduction/ any other fx intervention
49
What type of fracture should be treated with a splint/ dress, start IV abx, and an ortho consult?
Compound fracture (open)
50
What type of fracture should be treated with PO abx, repair laceration, splint, outpt ortho f/u?
Non-displaced fracture (open)
51
What type of fracture may compromise neurovascular structures and will require open/ closed reduction and possible fixation?
Grossly deformed/ displaced fracture
52
What is the most common cause of osteomyelitis?
Hematogenous spread of infection to bone (with bone destruction)
53
What is the most common pathogen responsible for osteomyelitis?
Staph aureus (poss MRSA)
54
If a pt presents with PE including fever, bone pain, swelling, redness, guarding, and focal tenderness during exam, what should you be concerned for?
Osteomyelitis
55
What is the best study for eval of osteomyelitis?
MRI (marrow edema/ abscesses)
56
What is included in the treatment of osteomyelitis?
``` Supportive care IV abx (empiric first) Surgical drainage Surgical debridement Hyperbaric oxygen therapy ```
57
The following things should be considered with what type of injury? Risks of poor outcomes (wound and patient related) Foreign bodies Extent of wound Neurovascular or tendon injury Cosmetic significance
Traumatic soft tissue injuries
58
``` The following things should be considered with what type of injury? Substance Route Quantity How long between exposure and eval Progression of sxs since exposure Home txs administered Underlying medical conditions ```
Toxic ingestion
59
What are helpful is establishing dx when exposure is not well defined?
Toxidrome (grouped, physiologically-based abnormalities)
60
What toxidrome is associated with the following presentation? Delirium, flushed skin, dilated pupils, urinary retention, decreased bowl sounds, memory loss, seizures
Anticholinergic
61
What toxidrome is associated with the following presentation? Confusion, weakness, salivation, lacrimation, defecation, emesis, diaphoresis, muscle fasciculations, miosis, seizures
Cholinergic
62
What toxidrome is associated with the following presentation? Disorientation, hallucinations, visual illusions, panic reaction, moist skin, hyperactive bowel sounds, seizures
Hallucinogenic
63
What toxidrome is associated with the following presentation? AMS, unresponsiveness, miosis, shock
Opiate/ narcotic
64
What toxidrome is associated with the following presentation? Coma, stupor, confusion, sedation, progressive deterioration of CNS function
Sedative/ hypnotic
65
What toxidrome is associated with the following presentation? Delusions, paronoia, diaphoresis, piloerection, mydriasis, hyperreflexia, seizures, anxiety
Sympathomimetic
66
What toxidrome is associated with the following vital sign changes? Tachycardia Hyperthermia HTN
Anticholinergic
67
What toxidrome is associated with the following vital sign changes? Bradycardia Hypothermia Tachypnea
Cholinergic
68
What toxidrome is associated with the following vital sign changes? Tachycardia Tachypnea HTN
Hallucinogenic
69
``` What toxidrome is associated with the following vital sign changes? Shallow respirations Slow RR Bradycardia Hypothermia Hypotension ```
Opiate/ narcotic
70
What toxidrome is associated with the following vital sign changes? Apnea
Sedative/ hypnotic
71
What toxidrome is associated with the following vital sign changes? Tachycardia Bradycardia HTN
Sympathomimetic | *bradycardia if pure alpha agonist*
72
What are the causative agents included in the Anticholinergic toxidrome?
``` Antihistamines Scopolamine Jimson Weed Angel Trumpet Benztropine Tricyclic anti-depressants Atropine ``` Angel Jim Scopes out Tricycles and mercedes Benz At his Anti's house
73
What are the causative agents included in the Cholinergic toxidrome?
Organophosphates Carbamates Mushrooms
74
What are the causative agents included in the Hallucinogenic toxidrome?
Amphetamines Cannabinoids Cocaine Phencyclidine (PCP)
75
What are the causative agents included in the Opiate/ narcotic toxidrome?
Opiates Propoxyphene Dextromethorphan
76
What are the causative agents included in the Sedative/ hypnotic toxidrome?
Barbiturates Benzodiazepines Ethanol Anticonvulsants
77
What are the causative agents included in the Sympathomimetic toxidrome?
``` Cocaine Amphetamines Methamphetamine Phenylpropano-lamine Ephedrine Pseudoephedrine Albuterol Ma huang ```
78
How is toxic ingestion treated?
Stabilize pt, contact poison center, DDD (disability, drugs, decontamination)
79
What is the antidote for acetaminophen?
Acetylcysteine
80
What is the antidote for benzodiazepines?
Flumazenil
81
What is the antidote for opioids (narcotics)?
Naloxone (Narcan)
82
What is the antidote for anticholinergics?
Physostigmine
83
What is the antidote for beta blockers?
Glucagon
84
What is the antidote for CCBs?
Calcium
85
What is the antidote for Digoxin?
Digibind
86
What is the antidote for heavy metals?
Chelating agents
87
In what case would foreign body ingestion lead to obstruction?
Anatomically or physiologically narrow spaces
88
In the case of foreign body ingestion, once an object passes the pylorus, what usually happens to it?
Continues to rectum and is passed in the stool w/o complications
89
What are the main concerns associated with foreign body ingestion?
Sharp or irregular edges If lodged in esophagus Perforation (mechanical or chemical erosion) Aspirated vegetable (pneumonitis)
90
If a pt presents w hx of refusal to eat, vomiting, choking, coughing, stridor, neck/ throat pain, inability to swallow, increased salivation, and abn sensation in chest... what should you be concerned for?
Esophageal FB
91
Does a pt with esophageal FB always have abn exam findings?
No
92
If upon PE you note a red throat, palatal abrasions, anxiety/ distress, wheezing, decreased BS, fever, and peritoneal signs... what should you be concerned for?
Esophageal FB
93
Does a negative XR mean negative FB ingestion?
No
94
What is the procedure of choice for removing an esophageal FB?
Endoscopy
95
What is the procedure of choice for removing a tracheal FB?
Bronchoscopy
96
If a coin is found above the cricopharyngeus muscle, what should you do?
Refer to ENT
97
If a coin is found below the cricopharyngeus muscle, what should you do?
Refer to GI
98
If a coin is found below the esophageal sphincter, what should you do?
Leave it
99
What is considered a true emergency with respect to FB ingestion?
Esophageal button battery (BB) | *call national BB ingestion hotline for ID if #s seen on XR*
100
What is the concern with ingestion of a BB that has led to reports of burns to the esophagus occurring in as little as 4 hours and perforation as soon as 6 hours?
Rapid action of alkaline substance on mucosa, pressure necrosis, residual charge
101
What type of button battery ingestion is associated with the most adverse outcome?
Lithium
102
With respect to button battery ingestion, concern for heavy metal poisoning due to fragmentation is associated with what?
Mercuric oxide batteries
103
With respect to button battery ingestion, blood and urine mercury levels should be measured when?
Cell splits in GI tract
104
What is the treatment for BB ingestion?
Emergent removal if in esophagus If passed esophagus > nothing if asx UNLESS not passed through pylorus after 24-48 hrs GI signs/ sxs = immediate surgical consult
105
What is the primary respiratory impairment from submersion in a liquid?
Drowning (causes hypoxemia and acidosis)
106
How does drowning (a drowning event) typically occur?
Silently and rapidly
107
What may occur due to hypoxemia sustained during a drowning episode that may then lead to arrhythmias, ongoing pulmonary injury, reperfusion injury, or multi-organ dysfunction?
CNS damage
108
Is wet drowning or dry drowning more common?
Wet drowning (aspiration of water into the lungs and dilution/ washout or surfactant)
109
How does dry drowning occur?
Laryngospasm = hypoxia = LOC
110
How is near-drowning defined?
Survival > 24 hrs post event
111
If a pt w a hx of near-drowning presents at the ED alert or mildly obtunded, what is the prognosis?
May experience full recovery
112
If a pt w a hx of near-drowning presents comatose, receiving CPR in route to the ED, or has fixed/ dilated pupils and no spontaneous respirations, what is the prognosis?
Very poor
113
What should be considered with near-drowning, esp if less than 6 mos old or toddlers with atypical presentation?
Child abuse
114
What type of drowning may cause death up to 72 hours after a near drowning incident?
Secondary drowning
115
What is the result of fresh water drowning?
Hemodilution (from ingested water)
116
What is the treatment for drowning?
Pre-hospital care is critical | ED - ventilation, warmed isotonic IV fluids, initial CXR and repeat @ 6 hrs, admit
117
What is the most critical factor with respect to prognosis of drowning incidents?
Duration of submersion > 5 min
118
How is fever without a source defined?
Rectal temp > 101 (typically ~5-8 days)
119
What is the goal for fever without a source?
Identify occult systemic bacterial infections | Pneumonia, UTI, bacteremia, HSV6, meningitis
120
What is workup of fever without a source based on?
Age (< 3 mos: neonates, 3 mos-3 yrs: infants, young children) Appearance RF's
121
In which case of fever without a source do you workup regardless of appearance?
Infants < 3 mos with temp > 38.3 (101) | aka neonatal fever
122
How is neonatal fever managed?
Full septic workup Admission pending culture results +/- early administration of empiric abx and trial of NSAIDS
123
When should the following be included in the management of fever without a source? Labs, UA, cultures, CXR, parenteral abx, admit
Ill appearing 3 mos- 36 mos
124
When should the following be included in the management of fever without a source? CBC w diff, blood cultures, UA, CXR
Well appearing, not completely immunized
125
With respect to management of fever without a source with well appearing, completely immunized pts, what does management include?
UA and culture
126
With respect to management of fever without a source with well appearing, completely immunized pts, how does a pt with a fever >/= 39C and abn UA?
Treated for UTI
127
T or F: Maternal US may detect more severe cases of Osteogenesis imperfecta?
True. Consider genetic counseling
128
With Osteogenesis imperfecta why do you want to limit the number of films you order (if possible)?
Minimize radiation exposure
129
T or F: Osteogenesis imperfecta is often a clinical dx?
TRUE
130
Biochemical testing for Osteogenesis imperfecta is used to evaluate what?
Structure and quality of type 1 collagen (this test is diagnostic for Osteogenesis imperfecta)
131
What lab finding is common w/ Osteogenesis imperfecta and relates to severity?
HYPERcalcemia
132
What lab may be normal or elevated for Osteogenesis imperfecta is recent fx?
Alkaline phosphate
133
What medication is given with Osteogenesis imperfecta to slow done bone reabsorption thus reducing fx rate and increasing bone density? How is it dosed?
Bisphosphonate-pamidronate (IV infusion every 3 months, 4 hrs daily for 3 days)
134
What are the risks associated w/ Bisphosphonate-pamidronate? (3)
Hypocalcemia, osteonecrosis of the jaw, nephrotoxicity
135
Other management considerations for Osteogenesis imperfecta (4)
1. Immobilization for acute fx 2. Low impact exercise 3. Parent EDU 4. Avoid alcohol, smoking, steroid use
136
Progressive hearing loss is a sx of what disease?
Osteogenesis imperfecta
137
Genetic mutation of FBN1 (fibrillin), a connective tissue protein, is seen w/ what disease?
Marfan's syndrome
138
T or F: Marfan's syndrome is autosomal recessive?
False: Autosmal DOMINANT
139
Tall, thin pt w/ wide arm span and arachnodactyly is concerning for what disease?
Marfan's syndrome. Other sx: pectus deformity, hindfoot valgus, hypermobile joints w/ laxity)
140
What are the 3 key concerns w/ Marfan's syndrome?
1. Aortic root dilation/dissection (risk of aortic rupture) 2. Spontaneous pneumothorax 3. Ectopia Lentis Other sx: mitral valve prolapse, myopia (nearsightedness)
141
What class of meds are used in the tx of Marfan's syndrome?
B-blockers
142
What is a positive Steinberg sign? What disease is this used to evaluate?
Fold thumb under a closed fist, if thumb extends beyond palm of hand = positive. Used in evaluation of Marfan's syndrome
143
What is a positive Walker-Murdoch sign and what disease is it used to evaluate?
Grip opposite wrist using thumb and pinky, positive = overlapping fingers. Used to evaluated Marfan's syndrome
144
What tests are used to evaluated Marfan's syndrome pt? (3)
1. Routine Echo/ECG 2. Eye exam w/ slit lamp for lense discoloration 3. CXR, skeletal ABN (MRI/CT prn)
145
T or F: Marfan's syndrome pts should avoid strenuous activty?
TRUE
146
Prader-Willi Syndrome affects what chromosome?
Long arm of chromosome 15, absence of paternal gene expression --> maternal disomy (2 copies of chromo15 from mother, none from father, less distinct features, higher IQ, more likely to have autistic behaviors)
147
What is most common syndromic form of obesity?
Prader-Willi Syndrome
148
Dysfunction of the hypothalamus or pituitary leads to a deficiency in what hormone in Prader-Willi Syndrome pts?
Primary central growth hormone
149
In Prader-Willi Syndrome you have genetic imprinting. What does this mean?
Expression of gene depends on gender of parent donating the gene
150
Angelman syndrome is loss of the maternal or paternal copy of chromosome 15?
Maternal
151
Pt presents w/ depigmentation to skin and eyes, hypogonadism, and food seeking behavior. What should you be concerned about?
Prader-Willi Syndrome. Other sx: almond eyes, triangular mouth, narrow forehead, short, small hands and feet, developmental delay, intellectual disability, behaviors problems
152
Infant w/ profound hypotonia, feeding difficulties and FFT to concerning for?
Prader-Willi Syndrome
153
Pt w/ hx of FFT as infant present in early childhood w/ hyperphagia (binge eating) and weight gain. What disease should you be concerned about?
Prader-Willi Syndrome
154
How is Prader-Willi Syndrome dx?
Molecular genetic test (methylation analysis)
155
T or F: TX options for Prader-Willi Syndrome are limited?
True. Replace HGH, Testosterone, Estrogen, and healthy diet/exercise. (Won't cure syndrome)
156
What is the most common inherited intellectual disability?
Fragile X
157
Is Fragile X X-linked recessive or dominant?
Recessive | 90% are new mutation, father transmits 100% to F offspring
158
In what population is testing for Fragile X recommended?
Males w/ significant intellectual delay
159
Facial changes associated w/ Fragile X?
Large ears, long narrow face Other: soft smooth skin, macrocephaly w/ prominent forehead/chin, joint laxity, hypotonia, pes planus, strabismus, blue iris, mitral valve prolapse (murmur), macroorchidism after puberty
160
CGG repeat in FMR1 gene is dx for what genetic disease?
Fragile X
161
Premutation associated w/ Fragile X for each gender?
F: Primary ovarian insufficiency (FXPOI) M: Tremor/ataxia syndrome (FXTAS)
162
Is there a tx for Fragile X?
No, just sx management individualized to each pt | GERD meds) + monitoring (echo, MRI if seizures, PT, OT, speech therapy
163
DiGeorge is a defect in what chromosome?
22 (specifically 22q11.2 deletion syndrome)
164
Triad of signs/sx for DiGeorge?
1. Cardiac abnormalities (range from asx to more severe) 2. Hypolastic thymus (Thymus is absent w/ complete DiGeorge, immunodeficiency ) 3. Hypocalcemia (due to underdeveloped parathyroid)
165
Partial vs. complete subtypes of DiGeorge are classified by what?
Thymic hypoplasia & immune function If complete: Thymic transplant if possible, Hematopoietic cell transplant
166
Pt presents with palatal defects, GU abnormalities, and recurrent infections and inflammatory diseases. What genetic disease should you be concerned for?
DiGeorge Other sx: Behavioral/psych issues, developmental and intellectual delay
167
What are the face changes associated w/ DiGeorge?
low set ears, wide set eyes, underdeveloped chin/small mouth, bulbous nose tip
168
Decreased CD4 T cell + clinical findings is used to dx what genetic disease?
DiGeorge
169
What is the initial evaluation for DiGeorge?
Urgent echo, labs (CBC w/ diff, Ca, Phos, T/B cell subsets), renal US, CXR (thymic shadow)
170
T or F: Management for DiGeorge is multi-disciplinary?
TRUE Cardiology, Genetics, Endocrine, Speech/feeding therapist, Psych)
171
Life expectancy for infant born w/ complete DiGeorge?
Less than 1 yr w/o tx (treat as IMC, avoid live vaccines)
172
What are aneuploidies?
Chromosomes w/ any number other than 46 (Klinefelter, Turner, Trisomy 13, 18, 21)
173
Chromosomes w/ any number other than 46 (Klinefelter, Turner, Trisomy 13, 18, 21)
Aneuploidy
174
When will signs of Klinefelter become apparent?
Post puberty
175
Tall pt w/ narrow shoulders, long legs, microorchidism, and gynecomastia with mild language delay/learning disabilities is concerning for what aneuploidy?
Klinefelter Syndrome
176
Labs show low T, high FSH/LH. What is this concerning for?
Klinefelter Syndrome
177
TX for Klinefelter Syndrome?
Infertility eval/assistive technology, speech therapy, T replacement, counseling
178
Aneuploidy 45 X (or 46 X0) is what?
Turner syndrome
179
Because Turner syndrome pts only 1 X chromosome, this increases the risk of what?
X-linked recessive disorders like Hemophilia A/B
180
Short pt w/ webbed neck and shield chest (broad chest w/ wide spaced nipples) is concerning for what disease?
Turner syndrome Other sx: low hairline, pigmented nevi, lymphadema in hands in feet in infancy
181
Cardiac findings associated w/ Turner syndrome? (3)
Aortic stenosis, Coarctation of aorta, HTN
182
MSK clinical findings on exam for what genetic disorder? 1. Cubitus valgus 2. Short 4th metacarpal 3. Madelung deformity (wedge shaped wrist bones, radius shifted towards ulna bone)
Turner Syndrome
183
GU clinical findings on exam what genetic disorder? 1. Internal/external female genitalia 2. treaked gonads (underdeveloped) 3. Horseshoe kidney 4. primary amenorrhea in adolescent female
Turner Syndrome
184
TX for Turner syndrome? (3)
1. Infertility: IVF w/ egg donation (increased risk of aortic dissection during pregnancy) 2. Endocrine: Estrogen and cyclin progesterone to stimulate puberty/assist w/ bone growth. 3. Monitor for gonadal malignancy: gonadoblastoma (germ cell tumor w/ 45X, 46XY) --> prophylactic removal of gonads
185
Trisomy 13 is AKA what?
Patau syndrome
186
Trisomy 18 is AKA what?
Edwards Syndrome
187
Trisomy 21 is AKA what?
Down Syndrome
188
Trisomy 13 is a defect in what?
Prechordal mesoderm (midline craniofacial, eyes, forebrain defects)
189
Midline cleft and palate, slopping forehead, micro-ophthalmia, holoprosencephaly are concerning for what trisomy?
Trisomy 13
190
Hypotonia, vertical talus (rocker bottom), severe intellectual disability, kidney defects, CHD, omphalocele are concerning for what trisomy?
Trisomy 13
191
Tx for Trisomy 13?
Supportive care. Majority die in utero/ before 1 month of life (<5% changes beyond 6 months)
192
Pt w/ history of intrauterine growth restriction (IUGR), low birth weight present w/ hypertonia/spasticity, overlapping digits/clenched hands, and rocker bottom foot deformity what trisomy is this concerning for?
Trisomy 18
193
Low set ears, microcephaly, small jaw/mouth, prominent occipital are head changes for what trisomy?
Trisomy 18
194
On US exam for pt w/ hx of diaphragm hernias, omphalocele (birth defect w/ intestine outside of body) CHD (VSA and PDA) you find a horseshoe kidney. What trisomy is this?
Trisomy 18
195
TX for trisomy 18?
Palliative care vs. aggressive interventions to prolong life. Majority die in utero (~5% survive beyond 1 yr) If live to school age/adulthood, have severe intellectual disability
196
Most common chromosomal abnormality?
Trisomy 21/down syndrome
197
What trisomy risk increases w/ increased maternal age?
Trisomy 21/down syndrome
198
Flat nasal bridge, folded low set ears, epicanthic folds (skin fold on upper/inner eyelid), Brushfield spots (speckled iris), open mouth w/ protruding furrowed tongue and narrow palate, up-slanting palpebral fissures, short neck w/ excessive skin, and brachycephaly are clinical features for what trisomy?
Trisomy 21/down syndrome
199
Cataracts, refractive errors within the eyes, conductive hearing loss w/ multiple ear infections and ABN teeth are HEENT exam findings for what trisomy?
Trisomy 21/down syndrome
200
CHD (AVSD, VSD) is seen w/ what trisomy?
Trisomy 21/down syndrome
201
Duodenal atresia, chronic constipations, Hirschsprung disease, celiac disease are all associated w/ what trisomy?
Trisomy 21/down syndrome
202
Short stature, hypotonia, atlanto-axial instability, short hands w/ Simian crease (transverse palmar crease) and space b/w toes 1 & 2 is associated w/ what trisomy?
Trisomy 21/down syndrome
203
PT education for F pts w/ Trisomy 21?
Females are fertile and OB/Gyn consult needed prior to menarche
204
When does the ACOG recommend that all women should be offered aneuploidy screening?
By 20 weeks gestation
205
When is genetic screening used? In pt's w/ risk of having fetus affected by genetic disorder
In pt's w/ risk of having fetus affected by genetic disorder
206
T or F: Genetic diagnostic testing can 100% diagnose the existence of a genetic disorder in a fetus?
FALSE | Testing can only diagnose w/ varying certainty
207
> 49% of deaths from child abuse occur in children of what age?
< 12 mos
208
What is the most common cause of lethal child abuse?
Abusive head trauma
209
``` The following things are what type of RF's for child abuse? Young age/ single parent Lower education level Poverty Hx of drug/ alcohol abuse Domestic violence in household Unrealistic expectations of babies/ children Parental hx of abuse/ neglect Unrelated adult male in household Social isolation History of animal cruelty ```
Parental RF's
210
``` The following things are what type of RF's for child abuse? Medical conditions Non-biologic caregiver Age Prior abuse Unplanned pregnancy, unwanted children ```
Babies/ children RF's
211
What are the different types of child abuse and which is the most common?
Physical, neglect (most common), sexual, emotional
212
What are characteristics of unintentional bruising?
Bony prominences (FH, knees, front of body)
213
Bruising on what areas of the body are often considered characteristics of inflicted bruising?
Buttocks, back, trunk, genitalia, inner thighs, neck/ ears
214
What are characteristics of inflicted bruising?
Central bruising Bruising in babies not independently mobile or < 6 mos Multiple bruises in clusters Human bite marks
215
Bruising over the pinna of the ear can indicate that what has occurred?
Blow to the ear or side of the head
216
What are the types of bruises that may be seen with physical abuse?
``` Handprints/ oval finger marks Loop marks Linear bruises Belt marks Ligature marks Bruising over pinna of the ear ```
217
Bruising on what area of the body should cause a high level of suspicion?
Face
218
Bruising from bites can be associated with what?
Sexual abuse
219
How can you differentiate a bite from a child vs an adult?
Distance between maxillary inter-canines (2.5-3cm in adult)
220
When should you expect physical abuse with burns?
Scalds in children < 5 yo without unintentional spill pattern
221
Burns in a stocking glove pattern or on the buttocks/ legs are what type of burns?
Immersion
222
What type of burns tend to be 3rd degree, heal slowly with scarring, and typically are seen on the dorsa of the hands/ feet or the face?
Cigarettes
223
Bruising/ lichenification or scarring at the corners of the mouth can be indicative of what type of abuse?
Recent/ chronic gagging
224
What are a few of the more common type of orofacial physical abuse injuries?
Frenulum tears, lip lacerations, missing/ fractured teeth, tongue injuries, burns
225
What is the 2nd most common injury in physical abuse?
Fractures
226
What fractures should lead to a high suspicious for physical abuse? (5)
Rib fractures in babies (esp < 1 yo) Long bone fractures in non-walking children Sternum/ scapula or spinal fractures Multiple fractures in various stages of healing Depressed skull fractures
227
What are the 2 most common types of fractures suspicious for physical abuse?
``` Metaphyseal lesions of long bones (infancy) Rib fractures (forceful compression of ribs while shaking) ```
228
What is a common mechanism of physical abuse fractures?
Crib
229
Abusive head trauma and brain injury results from what?
Trauma to the brain/ spinal cord from direct trauma or shaking
230
Secondary central apnea from injury to brainstem and spinal cord can result from what?
Shaking
231
What reasons might a caretaker seek care for an unintentional head injury?
Localized swelling following injury Lethargy Concern for children who were asx
232
What reasons might a caretaker seek care for an abusive head injury?
Breathing difficulties Apnea Seizures Lifelessness
233
What type of intracranial (IC) bleeding occurs more frequently in unintentional head trauma?
Epidural hemorrhage
234
What type of intracranial (IC) bleeding is not typically accidental, would require significant force/ drop and will show evidence of past SDH?
Subdural hemorrhage (SHD)
235
What type of intracranial (IC) bleeding is present in nearly all fatal inflicted head traumas?
Subarachnoid hemorrhage
236
What type of injury is frequently seen in abusive head trauma and are typically numerous?
Retinal hemorrhage
237
Where is reporting of suspected child abuse mandated?
All 50 states
238
What factors should be taken into consideration for patients that have suffered/ survived child abuse?
Increased likelihood for: teen pregnancy, sexual risk-taking behaviors, abuse of subsequent generations/ domestic partner abuse, psychological disorder as adult, substance abuse disorder, 9x more likely to be involved in criminal activity
239
What things should be considered as part of psychotherapy for patients that have suffered/ survived child abuse?
Trust Expectations of normal behavior/ relationships Conflict management/ self-esteem
240
What is included in the management of suspected child abuse?
Call CPS and law enforcement (mandated reporting) | Also consults/ team based approach and documentation
241
What must you identify during the visit if there is suspected child abuse?
Identify if other children at risk
242
In what 2 cases (besides severe injury) should a child with suspected abuse be hospitalized?
If the child is not considered safe going home with parent/ caregiver and if response of CPS will be delayed unacceptably
243
Child that appears reserved, depressed, angry that has regressed toileting (enuresis, encopresis) is concerning for what form of abuse?
Sexual abuse
244
Child w/ sleep disturbances, abd pain and dysuria is concerning for what form of abuse?
Sexual abuse
245
If you suspect sexual abuse, what tests should you order?
STI screen, pregnancy test (adolescent females), rape kit if abuse w/in last 24 hours
246
On exam of a female pt you notice external genitalia w/ increased vascularity, labial adhesions, thickened hymen, tissue friability, anal fissures, torn labial and lingual frenulum. What form of abuse are you concerned about?
Sexual abuse
247
On exam for a male pt you notice erythema to external genitalia, anal dilation, and torn lingual frenulum, what form of abuse are you concerned about?
Sexual abuse
248
Failure to provide child basic needs, physical, psychological, educational, and/or medical are all forms of what?
Neglect
249
T or F: Neglect encompasses actual (current) and potential (future) harm?
TRUE
250
Refusing to show affection, nurturing or praise is what form of emotional neglect?
Rejection (emotional neglect)
251
Denying normal familial experience or locking child in room/chest is what form of neglect?
Isolation (emotional neglect)
252
Setting unrealistic expectations, threatening to hurt child, pets or loved ones is what form of emotional neglect?
Terrorizing (emotional neglect)
253
Encouraging destructive or sexually exploitive behavior is what form of emotional neglect?
Corruptive (emotional neglect)
254
Verbal is assault and over pressure are what forms of neglect?
Emotional neglect
255
Tx for emotional neglect?
Child and parent counseling, removal of child if necessary
256
Forced ingestions by children (salt, water, Rx/illicit drugs) if what type of abuse?
Induced illness
257
Pt presents w/ diffuse bruising, tachypnea, hyperthermia, tachycardia, hypotension and vomiting what test should you order to confirm your suspected DDX?
Plasma salicylate for suspected salicylate ingestion (Aspirin OD)
258
African American pt present with bruising to lower back/buttocks w/o any signs of swelling or tenderness. Mom says the spot has been there since birth. What is your suspected DX?
Mongolian spots (will fade over months/year rather than days)
259
PT presents w/ bruising/purpura to LE, complaints of knees and ankle pain (arthralgia) and abd pain. What is your suspected dx?
Vasculitis/ Henoch-Scholein purpura
260
Pt presents with bruising. Mom denies any witnessed abuse, but reports family hx of bleeding disorder. What tests could you order to evaluate for coagulpathy disorder vs. abuse?
Coagulation studies CBC w/ diff
261
Non-ambulatory infant presents w/ LE fx. You are concerned for abuse, but need to rule out what 3 conditions?
1. Osteogenesis imperfecta (brittle bones, prone to repeated fx) 2. Vit D deficiency 3. Neoplasm (pathological fx)
262
Impetigo can be differential from cigarette burn how?
Impetigo is typical superficial and will heal w/o scaring. Cigarette burns are typically 3rd degree burns that will scar
263
Dad brings in pt w/ burns to lower lip and chin. He states that noticed the burns after being out in the sun. What question should you ask about this history to determine if this is a phytodermatitis?
Was the pt drinking or eating any citrus, celery, or fig juice? (burn will be in present in areas exposed to fruit/juice)
264
What is congenital pain insensitivity?
Sensory and autonomic neuropathies that decrease pt's sensations to pain, +/- temperature
265
Mom brings in pt for well child exam. In evaluating the pt you notice bruising to the right LE and on XR find a tibial fx. When you ask the mom about any recent injuries she states the her son recently fell off his bike but never complained about any pain. What disease should you be concerned about and what follow up do you recommend?
Congenital pain insensitivity. | Recommend neuro f/u for complete neurologic exam
266
Cupping, coining and spooning will result in what?
Intentional bruising due to cultural practice. Consider in ethnic pts
267
The following exam findings are all concerning for what? Bruising to trunk, ear, and neck or infant that are not mobile Long bone FX in non-walking babies or rib fx < 1 yr Subdural hematoma < 1 yr Hollow viscous injury < 4 yrs
Abuse
268
Caregivers that provide HX that is inconsistent w/ injury, change mechanism of injury, is vague, blames younger sibling or pt for injury, implausible or attributes injury to in-home resuscitation efforts are all concerning for what?
Abuse
269
When examining a peds pt, you find a delay in seeking medical care, lack of appropriate concern, aloofness/argumentative/ aggressive from care giver. What should you suspect?
Abuse
270
Tips for interviewing a child suspected of abuse?
Open ended questions (avoid repeating questions) 2. using historical events (birthday, Christmas) to establish timeline, tell child he/she isn't responsible for abuse, comfort child and reassure you are there for them
271
4 things to evaluate on PE in children of suspected abuse?
1. Clothing/hygiene 2. Skin/bone tenderness/reluctance to use extremity 3. Mental status 4. Examine entire body
272
What tests should you order if concerned about sexual abuse?
UA, toxicology (serum/urine), stool guiac
273
What test should you order if concerned abut abdominal trauma?
CMP including ALT/AST (hepatic injury) ad amylase (pancreatic injury)
274
Choice imaging for suspected skull fx?
Non-contrast CT > XR
275
Choice imaging for spinal fx?
CT w/ contrast MRI for nerve root or spinal cord injury > XR
276
Choice imaging for thoracic injury?
CT w/ contrast > CXR w/ oblique views
277
Choice imaging for abdominal injury?
CT w/ contrast > plain flat and upright XR
278
When should bone scan be ordered?
To r/o occult fracture is suspicion level is high
279
If confessed abuse, patterned bruising, injuries consisted with abuse (burns, whip marks), injury during domestic abuse in any aged child, what survey should be preformed?
Skeletal survey
280
Patterned bruising for child < 24 mos?
> 4 bruises to non-bony prominences (ears, neck, torso, genitals, buttocks, feet/hands)
281
Patterned bruising for child < 12 mos?
> 1 bruise to non-bony prominences (cheeks, eyes, ears, neck, torso, upper arms/legs, genitals/buttock, feet/hands)
282
Patterned bruising for child <9 months?
> 1 bruise to ANY location
283
Patterned bruising for child <6 mos?
Any brusing w/ the exception of reported fall and a single bruise