USMLE Step 2 (Fach) / Pediatrics (Lektion)
In dieser Lektion befinden sich 168 Karteikarten
Step 2 CK
Diese Lektion wurde von estoffel erstellt.
- Child abuse Includes neglect as well as physical, sexual, and psychological maltreatment of children. History/PE:- Risk factors: look for parents with a history of alcoholism or drug use, children with complex medical ...
- Congenital heart disease Intrauterine risk factors for congenital heart disease include maternal drug use (alcohol, lithium, thalidomide, phenytoin), maternal infections (rubella), and maternal illness (diabetes mellitus, phenylketonuria). ...
- Septal defects A condition in which an opening in the atrial or ventricular septum allows left-to-right shunting. VSD is the most common type of congenital heart disease. ASD:- Associated syndromes: Fetal alcohol syndrome, ...
- Language developmental milestones 2 months: Alters to sound; coos 4-5 months: Laughs and squeals; orients to voice 6 months: Babbles, responds to name 9-10 months: Says "mama/dada"; says first word at 11 months 12 months: 1-3 words, ...
- Gross motor developmental milestones 2 months: Lifts head/chest when prone 4 months: Rolls front to back. Sits with trunk support. 6 months: Sits momentarily propped on hands (unsupported by 7 months) 9-10 months: Crawls, cruises, pulls ...
- Fine motor developmental milestones 2 months: Tracks past midline 4-5 months: Grasps rattle 6 months: Transfers objects 9-10 months: Uses 3-finger (immature) pincer grasp. Holds bottle or cup. 12 months: Uses 2-finger pincer grasp 18 months: ...
- Social/cognitive developmental milestones 2 months: Recognizes parent; social smile 4-5 months: Enjoys looking around, laughs 6 months: Demonstrates stranger anxiety (resolves by 2 years of age) 9-10 months: Waves bye-bye 12 months: Imitates ...
- Edwards syndrome Trisomy 18 Epidemiology:- F > M Clinical features:- Intellectual disabilities- Rocker-bottom feet- Low-set ears- Micrognathia- Clenched hands (overlapping fourth and fifth digits)- Prominent occiput- ...
- Patau syndrome Trisomy 13 Clinical features:- Intellectual disability- Microphthalmia, possibly coloboma- Cleft lip/palate- Microcephaly, holoprosencephaly- "Punched-out" scalp lesions- Polydactylyl (vs. overlapping ...
- Phenylketonuria (PKU) Caused by ↓ phenylalanine hydroxylase or ↓ tetrahydrobiopterin cofactor. Autosomal recessive.Tyrosine becomes essential, and phenylalanine accumulates and is subsequently converted to its ketone ...
- Fragile X syndrome Caused by a defect affecting the methylation and expression of the FMR1 gene; a triplet repeat disorder that may show genetic anticipation. X-linked dominant. The second most common genetic cause of intellectual ...
- Fabry disease Caused by a deficiency of α-galactosidase A that leads to accumulation of ceramide trihexoside in the heart, brain, and kidneys. X-linked recessive. The first sign is severe neuropathic limb pain; also ...
- Krabbe disease Absence of galactosylceramide and galactoside (due to galactosylceramidase deficiency), leading to the accumulation of galactocerebroside in the brain. Autosomal recessive. Characterized by progressive ...
- Gaucher disease Caused by a deficiency of glucocerebrosidase that leads to the accumulation of glucocerebroside in the brain, liver, spleen, and bone marrow. Autosomal recessive. Gaucher cells have a characteristic "crinkled ...
- Niemann-Pick disease A deficiency of sphingomyelinase that leads to the buildup of sphingomyelin cholesterol in reticuloendothelial and parenchymal cells and tissues. May present with a cherry-red spot and hepatosplenomegaly. ...
- Tay-Sachs disease An absence of hexosaminidase that leads to GM2 ganglioside accumulation. Infants may appear normal until 3-6 months of age, when weakness begins and development slows and regresses. An exaggerated startle ...
- Metachromatic leukodystrophy A deficiency of arylsulfatase A that leads to the accumulation of sulfatide in the brain, kidney, liver, and peripheral nerves. Autosomal recessive. Demyelination leads to progressive ataxia and dementia. ...
- Hurler syndrome A deficiency of α-L-iduronidase. Autosomal recessive. Leads to corneal clouding, intellectual disabilities, and gargoylism.
- Hunter syndrome A deficiency of iduronate sulfatase. X-linked recessive. A mild form of Hurler syndrome with no corneal clouding and mild intellectual disabilities. Hunters need to see (no corneal clouding) to aim ...
- Intussusception A condition in which a portion of the bowel invaginates or "telescopes" into an adjacent segment, usually proximal to the ileocecal valve. Epidemiology:- Sex: ♂ > ♀ (3:2)- Peak incidence: 3-12 months; ...
- Pyloric stenosis Hypertrophy of the pyloric sphincter, leading to gastric outlet obstruction. Epidemiology:Sex: ♂ > ♀ (∼ 5:1)Peak incidence: 3-6 weeks of age (rarely presents after 12 weeks of age) Etiology:- Exposure ...
- Meckel diverticulum The most common congenital anomaly of the gastrointestinal tract and is caused by an incomplete obliteration of the omphalomesenteric duct. True diverticulum. Epidemiology:- ∼ 2% of the population- ...
- Hirschsprung disease Congenital lack of ganglion cells in the rectosigmoid region, which fails to relax leading to functional intestinal obstruction. - Sex: ♂ > ♀ (4:1) - Associations: Trisomy 21 and additional syndromes ...
- Necrotizing entercolitis A condition in which a portion of the bowel (most commonly the terminal ileus/proximal colon) undergoes necrosis. Epidemiology:- More common in premature infants- Peak incidence: 2nd-4th week after ...
- Immunodeficiency disorders Congenital immunodeficiencies often present with chronic or recurrent infections, unusual or opportunistic organisms, incomplete treatment response, or FTT. B-cell deficiencies: Most common (50%). Typically ...
- Bruton agammaglobulinemia An X-linked recessive B-cell deficiency found only in boys. Symptoms begin after 6 months of age, when maternal IgG (transferred transplacentally) is no longer active. Clinical features:- Recurrent sinopulmonaty ...
- IgA deficiency Mild; the most common immunodeficiency. ↓ IgA levels only. Usually asymptomatic; patients may develop recurrent respiratory or GI infections (Giardia).Anaphylactic transfusion reaction due to anti-IgA ...
- Ataxia-teleangiectasia Defects in ATM gene → ?failure to detect DNA damage ?failure to halt progression of cell cycle? → mutations accumulate; autosomal recessive. Triad:1. Cerebellar ataxia 2. Oculocutaneous telangiectasias3. ...
- Severe combined immunodeficiency (SCID) A rare genetic condition caused by developmental defect of functional B and T cells resulting from numerous genetic mutations Etiology: - Mutations in the gene encoding the common gamma chain: defective ...
- Wiskott-Aldrich syndrome Inherited syndrome with impaired T-cell function and thrombocytopenia. Etiology: mutated WAS protein (x-linked recessive inheritance) → impaired signaling to actin cytoskeleton reorganization Epidemiology: ...
- Chronic granulomatous disease (CGD) Deficiency of superoxide production by polymorphoneutrophils and macrophages → ability to ingest but not kill microorganisms Etiology: defective phagocytic nicotinamide adenine dinucleotide phosphate ...
- Leukocyte adhesion deficiency Defect in the leukocytic chemotaxis. Etiology: Defect in LFA-1 integrin (CD18) (autosomal recessive) → leukocytes are unable to migrate into tissues during infection or inflammation Clinical features:- ...
- Chédiak-Higaski syndrome Defect in neutrophil chemotaxis/microtubule polymerization Etiology: autosomal recessive defective lysosomal trafficking regulator gene (LYST) Clinical features- Recurrent pyogenic infections - Partial ...
- Job syndrome (Hyperimmunoglobulin E syndrome) A defect in neutrophil chemotaxis. Remember the mnemonic FATED:- Coarse Facies- Abscesses- Retained primary Teeth- Hyper-IgE- Dermatologic (severe eczema) Recurrent S. aureus infections and abscesses. ...
- C1 esterase inhibitor deficiency (hereditary angioedema) ... - Autosomal dominant inheritance- Possible triggers: trauma, surgery, dental procedure, infections, or pharmacotherapeutic agents Clinical features:- Family history often present- Clinical manifestations ...
- Terminal complement deficiency (C5-C9) Inability to form antigen-antibody (MAC) complex → defective opsonization, phagocytosis, and killing of organisms and a defective clearance of antigen-antibody complexes. Epidemiology: C5, C6, or C8 ...
- Kawasaki disease A multisystemic acute vasculitis that primarly affects young chilren (80% are <5 years of age), particularly those of Asian ancestry. Divided into acute, subacute, and chronic phases. Acute phase: 1-2 ...
- Juvenile idiopathic arthritis An autoimmune disorder manifesting as arthritis with "morning stiffness" and gradual loss of motion that is present for at least 6 weeks in a patient <16 years of age. Approximately 95% of cases resolve ...
- Vesicoureteral reflux Retrograde projection of urine from the bladder to the ureters and kidneys. Etiology:- Posterior urethral valves- Urethral meatal stenosis- Neurogenic bladder- Congenital anomalies of the ureter: Ureter ...
- Cryptorchidism Failure of one or both of the testes to fully descend into the scrotum. Risk factor: - Low birth weight (< 2.5 kg)- Prematurity- Small for gestational age- Genetic disorders Clinical presentation:- Empty, ...
- Slipped capital femoral epiphysis Posterior and inferior displacement of the femoral head in relation to the femoral neck at the proximal femoral growth plate. Epidemiology:- Most common hip disorder in adolescents.- Peak incidence: 10-16 ...
- Otitis media A suppurative infection of the middle ear cavity that is common in children.- Up to 75% of children have at least 3 episodes by age 2. Pathogens: - Bacterial: S. pneumoniae, nontypeable H. influenzae, ...
- Bronchiolitis An acute inflammatory illness of the small airways of the lower respiratory tract. - Primarily affects children < 2 years of age- Common during winter months Etiology:- Respiratory syncytial virus (RSV)- ...
- Croup (laryngeotracheobronchitis) An acute viral inflammatory disease of the larynx, primarily within the subglottic space (proximal trachea).- Peak incidence: 6 months to 3 years- Most common in fall and winter Etiology:- Parainfluenza ...
- Epiglottitis A serious and rapidly progressive infection of supraglottic structures (e.g., the epiglottis and aryepiglottic folds).- Peak incidence: 6-12 years Pathogens:- Traditionally: Haemophilus influenzae type ...
- Meningitis Etiology: - < 1 month: Group B Streptococcus, Escherichia coli, Listeria monocytogenes- Infants (1 month-2 years): Streptococcus pneumoniae, Neisseria meningitidis, Listeria monocytogenes Risk factors: ...
- APGAR Score - Used for clinical assessment of newborns at 1 and 5 minutes after birth- Infants with scores < 7 may require further intervention Reassuring: 7-10Moderately abnormal: 4-6Low: 0-3 Appearance (skin color): Blue ...
- Respiratory distress syndrome Incidence- 1% of all newborns- 10% of all preterm babies Etiology:- Impaired synthesis and secretion of surfactant Risk factors: Prematurity, cesarean section, maternal diabetes mellitus, multifetal pregnancies, ...
- Leukemia A hematopoietic malignancy of lymphocytic or myeloblastic origin. - The most common childhood malignancy (ALL > AML)- ALL is most common in white boys between 2 and 5 years of age- AML is seen most frequently ...
- Neuroblastoma A malignant embryonal tumor of neural crest origin. - More than half of patients are < 2 years of age - Associated with neurofibromatosis, Hirschsprung disease, and the N-myc oncogene. Clinical presentation:- Location: ...