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Non-irritating colorless, odorless gas, present in cigarette smoke; systemic asphyxiant, which causes accidental/suicidal death
Carbon monoxide
Characteristic skin color seen in individuals affected by carbon monoxide poisoning
Cherry red discoloration of skin and mucous membranes
#1 cause of lung cancer among nonsmokers
Radon exposure
Substance that can interfere with calcium metabolism and deposit in bones, teeth; impairment of fracture healing; peripheral demyelinating neuropathy, manifesting as foot/wrist drop
Lead
Hematological manifestations from lead poisoning
Microcytic, hypochromic anemia with basophilic stippling and ringed sideroblasts (iron-laden mitochondria)
Disease caused by in utero exposure to methylmercury through ingestion of contaminated fish
Minamata disease
Osteoporosis, osteomalacia, associated with renal disease in Japanese women working in rice fields exposed to cadmium
Itai-Itai disease ("ouch ouch")
Type of emphysema associated with cigarette smoking
Centriacinar type
Compound responsible for alcohol intolerance
Acetaldehyde
Gene associated with malignant hyperthermia
RYR1 (ryanodine receptor 1) - This leads to increased intracellular Ca in skeletal muscle, producing sustained muscle contraction and heat production
Earliest and most affected cell in exposure to ionizing radiation
Lymphocytes, Followed by bone marrow, small bowel, and then brain
Type of malnutrition associated with hypoalbuminemia, flaky pain skin appearance, and flag sign of the hair
Kwashiorkor
Spinal cord tract that degenerates in vitamin B12 deficiency
Posterolateral spinal cord tract
Acute complication of vitamin A toxicity, associated with headache, dizziness, vomiting, stupor, and blurring of vision
Pseudotumor cerebri
Cascade of abnormalities triggered by one initiating aberration
Potter sequence - Due to oligohydramnios
Period in gestation of extreme susceptibility to congenital anomalies
3rd-9th weeks AOG, Peaking at 4th-5th week
Anomalies associated with congenital rubella (4)
Cardiac anomalies, Sensorineural hearing loss, Cataracts, Mental retardation
Common cause of retinopathy of prematurity (ROP) and bronchopulmonary dysplasia (BPD)
Hyperoxia
Complication associated with aggressive enteral nutrition to premature neonates, causing sepsis and hematochezia, and abdominal distention
Necrotizing enterocolitis. Loss of mucosal integrity (ischemia, infarction, inflammation) permits the transport of bacteria from intestinal lumen to the bloodstream.
Most serious complication of hyperbilirubinemia in newborns, especially at bilirubin levels >20 mg/dL (or lower in preterm)
Kernicterus
In Rh incompatibility, the mother is Rh-? While the fetus is Rh-?
Mother: Rh Negative, Fetus: Rh Positive
What is the blood type of the mother and fetus in ABO incompatibility?
Mother: O, Fetus: A or B
Hemolytic disease of the newborn that can occur during the first pregnancy
ABO incompatibility, Since anti ABO antibodies are naturally occurring
Most common lethal genetic disease affecting Caucasian populations, associated with salty sweat and viscous secretions; autosomal recessive condition
Cystic fibrosis (mucoviscidosis)
Gene mutation found in cystic fibrosis
CFTR gene in chromosome 7
Male GUT structure absent in individuals with cystic fibrosis
Vas deferens - This leads to azoospermia and infertility)
Most common malignant pediatric tumor
Leukemia
Tumor known to cause abdominal mass crossing the midline and blueberry muffin appearance of the skin
Neuroblastoma
Paraneoplastic syndromes associated with Neuroblastoma (3)
VIPoma, Opsoclonus-myoclonus ataxia syndrome, Hypertension
Gene mutation seen in Wilms tumor
WT1/WT2 gene
Three diseases that increase the risk of Wilms tumor
WAGR syndrome, Denys-Drash syndrome (highest risk - 90%), Beckwidth-Wiedemann syndrome
Component clinical features of WAGR syndrome (4)
Wilms tumor, Aniridia, Genitourinary abnormalities, Mental retardation
Components of Denys-Drash syndrome (2)
Gonadal dysgenesis, Early onset nephropathy
Syndrome associated with organomegaly, macroglossia, hemihypertrophy, omphalocele, and adrenal cytomegaly
Beckwidth-Wiedemann syndrome
Pediatric tumor presenting with an abdominal mass that does not cross the midline, hematuria, and hypertension
Wilms tumor (nephroblastoma). May cross the midline if large.