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JLJ - Diseases > Diseases MOD Exam 1 and 2 > Flashcards

Diseases MOD Exam 1 and 2 Flashcards

1
Q

What disease is this?

Long face, narrow palpebral fissures, puffy lids, over-folded helix of the ears, pear shaped nose, cardiac anomalies, short stature, palatal defects, hands with tapered fingers and short nail base

A

Velocardiofacial Syndrome

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2
Q

What disease/state is this?

Weight loss, anorexia, N/V, bone and joint pain

A

Chronic Vitamin A Toxicity

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3
Q

What causes Angelman Syndrome?

A

Deletion on chromosome 15 of band q12 in the long arm of maternal chromosome

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4
Q

What disease/state is this?

Inadequate mineralization of bone, weak and prone to fractures

A

Osteomalacia due to vitamin D deficiency (adults)

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5
Q

What disease is this?

Prominent occiput, rocker-bottom feet, low set ears, mental retardation, micrognathia

A

Edwards Syndrome

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6
Q

What causes Megaloblastic Anemia?

A

B12, folate deficiencies

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7
Q

What disease is this?

Psychotic symptoms, opthalmoplegia, hemorrhage and necrosis in mammillary bodies; if untreated, disturbances in short term memory, confabulation

A

Wernicke-Korsakoff Syndrome from Thiamine Deficiency (B1), usually as a result of alcoholism

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8
Q

What should patients with thrombocytopenia avoid/what are they at risk for if they have less than 100k platelets? Less than 50k? Less than 20k?

A

< 100k avoid high risk surgery

< 50k at risk of surgical bleeding

< 20k at risk for spontaneous hemorrhage or cranial bleed

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9
Q

What disease is this?

FTT, stunted growth, hepatomegaly, renomegaly, hypoglycemic, hyperlipidemia, hyperuricemia, gout and skin xanthomas

A

von Gierke Disease

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10
Q

What disease is this?

Sudden dyspnea, cyanosis, shock, pulmonary edema, squamous cells/hair/fat/mucin in vessels

A

Amniotic Fluid Embolism

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11
Q

What disease is this?

Progressive bilateral loss of central vision with visual impairment first noted between 15-35 y/o, leading eventually to blindness

A

Leber Hereditary Optic Neuropathy

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12
Q

What causes Down Syndrome? What are they at an increased risk for?

A

Extra copy of chromosome 21 or extra genetic material from chromosome 21

40% have congenital heart disease, also increased risk for developing acute leukemia, characteristics of Alzheimer’s

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13
Q

What causes Klinefelter’s Syndrome?

A

2 or more X chromosomes and/or more than 1 Y chromosome

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14
Q
A
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15
Q

What disease is this?

Hemarthrosis, visceral/intracranial bleeding

A

Hemophilia A

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16
Q

Where do neuroblastomas usually metastasize to?

A

Through blood/lymph vessels to liver, lungs, bones, bone marrow, and periorbital area

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17
Q

What disease is this?

Cleft lip and palate, microcephaly, mental retardation, micropthalmia, polydactyly, umbilical hernia, rocker-bottom feet

A

Patau Syndrome

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18
Q

What causes Familial Hypercholesterolemia? What is the inheritance pattern?

A

Mutations in gene encoding LDL receptor

Autosomal dominant

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19
Q

What disease is this?

Jerky, hyperkinetic, dystonic movements, develop bradykinesia and rigidity later in life; progressive and eventually fatal with an average course of about 15 years

A

Huntington Disease

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20
Q

What disease/state is this?

Failure of myocardial pump resulting from intrinsic myocardial damage, extrinsic compression, or obstruction to outflow MI, ventricular rupture, arrhythmia, cardiac tamponade, PE

A

Cardiogenic Shock

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21
Q

What disease is this?

Infant with edema, swelling of the nape of the neck due to lymph stasis, bilateral neck webbing and persistent looseness of skin as edema subsides, short stature, amenorrhea, lack of secondary sexual characteristics

A

Turner Syndrome

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22
Q

What causes Hemophilia A?

A

Factor VIII dysfunction

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23
Q

What disease is this?

Insidious disease process; typically affects adults; WBC’s in different stages of differentiation

A

Chronic Myelogenous Leukemia (CML)

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24
Q

What disease/state is this?

Respiratory distress, mental status changes, fat embolism syndrome

A

Fat Embolus

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25
Q

What disease is this?

Increased band form leukocytes, toxic granulation, juvenile granulocytes

A

Neutrophilia

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26
Q

What causes PKU?

A

Phenylalanine hydroxylase deficiency

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27
Q

What disease is this?

Flat facial profile, oblique palpebral fissures, epicanthic folds, low IQ

A

Down Syndrome

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28
Q

What causes Gaucher Disease? What is the inheritance pattern?

A

Glucocerebrosidase mutation

Autosomal recessive

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29
Q

What are patients with NRDS at risk of developing?

A

Retrolental Fibroplasia (retinopathy of prematurity) and Bronchopulmonary Dysplasia

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30
Q

What disease/state is this?

Steatosis, cirrhosis, portal hypertension, esophageal varices, acute/chronic pancreatitis

A

Chronic Alcoholism

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31
Q

What causes neutrophilia?

A

Acute bacterial infection, medications, cigarettes, physical stress, leukemia

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32
Q

What disease/state is this?

Vasodilation, decreased vascular resistance due to autonomic disruption

A

Neurogenic Shock

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33
Q

What causes Kyphoscoliosis EDS? What is the inheritance pattern?

A

Defect in lysyl hydroxylase

Autosomal recessive

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34
Q

What disease is this?

NO CNS involvement, spleen and bone symptoms, slight decrease in lifespan; crumpled tissue paper cytoplasm

A

Gaucher Disease Type I

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35
Q

What disease is this?

No corneal clouding, dwarfism that is less severe, umbilical hernia; balloon cells and multiple vacuoles and swollen lysosomes

A

Hunter Syndrome

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36
Q

What causes a fat embolus?

A

Fracture or soft tissue trauma, followed by bone marrow/fat entering circulation

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37
Q

What disease/state is this?

Depressed CNS, hepatic steatosis, acute gastritis, ulceration

A

Acute Alcoholism

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38
Q

What causes Cat-scratch Disease?

A

Gram-negative bacillus

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39
Q

What disease is this?

Hypotonia, joint laxity, congenital scoliosis, ocular fragility

A

EDS Kyphoscoliosis (Type VI)

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40
Q

What disease is this?

Accumulation of immature myeloid blasts in bone marrow (> 20%); occurs at all ages, peaks at age 60; Auer Rods

A

Acute Myeloid Leukemia (AML)

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41
Q

What disease is this?

Lungs prone to infection, difficulty breathing, wheezing, cough/sputum, FTT, bulky/foul stools, male infertility, salty baby; also have neonatal meconium ileus

A

Cystic Fibrosis

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42
Q

What causes Cystic Fibrosis? What is the inheritance pattern?

A

3 base addition to the CFTR gene; 7q31.2

Autosomal recessive

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43
Q

What caues Tay-Sachs Disease? What accumulates in Tay-Sachs Disease? What is the inheritance pattern?

A

Mutations in alpha-subunit locus on chromosome 15 leading to severe deficiency of hexosaminidase A

GM2 ganglioside

Autosomal dominant

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44
Q

What disease/state is this?

Hypokalemia, pulmonary aspiration of gastric contents, esophageal and gastric rupture

A

Anorexia Bulimia

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45
Q

What causes Niemann-Pick Disease Type C? What is the inheritance pattern?

A

Defect in NPC1 gene, which transports free cholesterol from lysosomes to cytoplasm

Autosomal recessive

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46
Q

What disease is this?

Lesions, central necrosis w/o loss of cellular outline

A

Syphilis

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47
Q

What causes Vascular EDS? What is the inheritance pattern?

A

Defect in COL3A1

Autosomal dominant

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48
Q

What causes von Willebran Disease?

A

Lack of functioning vWF

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49
Q

What disease/state is this?

Activation of cytokine cascades, peripheral dilation and pooling of blood, endothelial activation/damage; caused by overwhelming microbial infections, superantigens (toxic shock syndrome), trauma, burns, pancreatitis

A

Shock associated with Systemic Inflammation

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50
Q

What disease is this?

Normal at birth, hepatosplenomegaly by 6-24 months, CV complications; corneal clouding, dwarfism, protruding abdomen, coarse face, joint contractures

A

Hurler Syndrome

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51
Q

What disease is this?

Premature infant, bloody stools, abdominal distension, development of circulatory collapse; gas within intestinal wall (pneumatosis intestinalis); intestinal perforation with perionitis

A

Necrotizing Enterocolitis

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52
Q

What causes Bernard-Soulier Syndrome?

A

Lack of GpIb receptor

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53
Q

What is the inheritance pattern for Leber Hereditary Optic Neuropathy?

A

Mitochondrial

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54
Q

What diseases is this?

Cerebral palsy, deafness, blindness, mental retardation, major CNS defects

A

Minamata Disease (caused by mercury poisoning)

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55
Q

What disease/state is this?

Sensorimotor neuropathy, paresthesias, numbness, pain; over time, hyperpigmentation and hyperkeratosis of the skin

A

Arsenic Poisoning

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56
Q

What causes Glanzmann Thrombasthenia?

A

Lack of GpIIb/IIIa receptor complex

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57
Q

What disease is this?

Hypercholesterolemia, CAD, atherosclerosis, MI before 20, cholesterol deposits along tendon sheaths to produce xanthomas

A

Familial Hypercholesterolemia

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58
Q

What causes von Gierke Disease? What is the inheritance pattern?

A

Glucose-6-phosphatase deficiency

Autosomal recessive

59
Q

What are patients with Klinefelter’s Syndrome at increased risk for?

A

Increased risk for T2DM and metabolic syndrome, mitral valve prolapse, osteoporosis; 20X increased risk for breast cancer and systemic lupus erythematosus

60
Q

What disease is this?

Noncaseating granulomas in wall of intestine, dense chronic inflammatory infiltrate

A

Crohn’s Disease

61
Q

What disease is this?

Neovascularization causing lesions in the retina; increase in levels of VEGF

A

Retrolental Fibroplasia (retinopathy of prematurity)

62
Q

What causes Turner Syndrome?

A

Complete or partial monosomy of X chromosome, characterized primarily by hypogonadism in phenotypic females

63
Q

What disease is this?

Anemia, jaundice, increased bilirubin, edema, extramedullary hematopoiesis, cardiac decompensation, kernicterus

A

Immune Hydrops (due to Rh or ABO incompatibility)

64
Q

What causes DiGeorge Syndrome/Velocardialfacial Syndrome?

A

Chromosome 22q11.2 deletion (Chr 22q11.2)

65
Q

What disease is this?

Severe infantile form, extensive neuro involvement, progressive wasting, symptoms by 6 months, death before 3 y/o; foamy cytoplasm, zebra bodies; affects Ashkenazi Jews

A

Niemann-Pick Disease Type A

66
Q

What disease is this?

Normal at birth, motor/mental deterioration at 6 months, blindness, dementia, vegetative state at 1-2 y/o; affects Eastern European Ashkenazic Jews

A

Tay-Sachs Disease

67
Q

What is this thrombus called?

Arterial thrombus that is platelet rich and occurs in high shear stress; occurs in patients with atherosclerosis

A

White Thrombus

68
Q

What disease is this?

Painful cramps associated with strenuous exercise, myoglobinuria, creatine kinase always elevated

A

McArdle Disease

69
Q

What disease is this?

Skeletal abnormalities, unusually tall with long extremities/fingers, CV lesions, aortic dissection

A

Marfan Syndrome

70
Q

What are patients with arsenic poisoning at an increased risk for?

A

Increased risk for cancers of the lungs, bladder, and skin

71
Q

What causes Edwards Disease?

A

Extra copy of chromosome 18

72
Q

What disease is this?

Eunuchoid body habitus with abnormally long legs, small atrophic testes and small penis, gynecomastia, lower IQ, reduced spermatogenesis, infertile

A

Klinefelter Syndrome

73
Q

What causes a septic embolus?

A

Bloodborne infective material, valve vegetations break off and manifest in other sites

74
Q

What disease is this?

Skin microemboli (Janeway lesions), retinal microemboli (Roth spots), vascular damage in nail bed (splinter hemorrhage) Patients with endorcarditis

A

Septic Emboli

75
Q

What disease/state is this?

Obstructive lung disease, renal tubular damage, skeletal abnormalities w/ calcium loss; osteoporosis/osteomalacia

A

Cadmium Poisoning

76
Q

What causes Niemann-Pick Disease Type A/B? What is the inheritance pattern?

A

Inherited deficiency of sphingomyelinase leading to accumulation of sphingomyelin

Autosomal recessive

77
Q

What disease is this?

Noncaseating granulomas w/ abundant activated macrophages

A

Sarcoidosis

78
Q

What disease is this?

Mental retardation, ataxic gait, seizures, inappropriate laughter; referred to as “happy puppets”

A

Angelman Syndrome

79
Q

What disease is this?

Extramedullary hematopoiesis, kernicterus, immature red blood cells in circulation (erythroblastosis fetalis), edema, pallor, hepatosplenomegaly, jaundice

A

Non-immune Hydrops

80
Q

What disease is this?

IgE-mediated decrease in vascular resistance

A

Anaphylactic Shock

81
Q

What disease/state is this?

Hypoalbuminemia, fatty liver and edema, chronic diarrhea, nephrotic syndrome, extensive burns; subcutaneous fat and muscle is spared

A

Kwashiorkor due to malnutrition

82
Q

What disease/state is this?

Night blindness, epithelial/squamous metaplasia/keratinization, xerophthalmia, bitot spots, keratomalacia

A

Vitamin A Deficiency

83
Q

What disease/state is this?

Headache, dizziness, vomitting, stupor and blurred vision, confused w/ pseudotumor cerebri

A

Acute Vitamin A Toxicity

84
Q

What causes Antiphospholipid Antibody Syndrome?

A

Antibodies against plasma proteins that bind to phospholipids

85
Q

What causes McArdle Disease? What is the inheritance pattern?

A

Muscle phosphorylase deficiency

Autosomal recessive

86
Q

What causes Patau Syndrome?

A

Extra copy of chromosome 13

87
Q

What do patients with chronic alcoholism have an increased risk for?

A

Hepatocellular carcinoma, vitamin B deficiency (especially B1), cancer of esophagus, oral cavity, liver; breast cancer in women

88
Q

What causes Classical EDS? What is the inheritance pattern?

A

Defect in COL5A1, COL5A2

Autosomal dominant

89
Q

What are patients with anorexia nervosa/bulimia at risk for?

A

Cardiac arrhythmia and sudden death due to hypokalemia

90
Q

What disease is this?

Infatile cerebral pattern, progressive CNS involvement, early death, hepatosplenomegaly; crumpled tissue paper cytoplasm

A

Gaucher Disease Type II

91
Q

What gene is defective in Fragile X Ataxia/Tremor? What is the inheritance pattern?

A

FMR1 gene

X-linked recessive

92
Q

What disease is this?

Rounded/stellate granuloma w/ central debris; giant cells uncommon

A

Cat-scratch Disease

93
Q

What disease is this?

Long face with large mandible, large everted ears, large testicles, hyperextensible joints, high arched palate, mitral valve prolapse, macro-orchidism

A

Fragile X Syndrome

94
Q

What disease is this?

Hepatomegaly, cataracts, loss of nerve cells, gliosis, edema, FTT, V/D, jaundice

A

Galactosemia

95
Q

What causes galactosemia? What accumulates? What is the inheritance pattern?

A

Lack of galactose-1-phosphate uridyl transferase (GALT) OR lack of galactokinase (rare)

Galactose-1-phosphate accumulates

Autosomal recessive

96
Q

What disease is this?

Massive cardiomegaly, muscle hypotonia, cardiorespiratory failure within 2 years

A

Pompe Disease

97
Q

What disease/state is this?

Microcephaly, growth retardation, facial anomalies, decreased mental function as child grows, difficulty with attention, poor memory

A

Fetal Alcohol Syndrome

98
Q

What disease is this?

Inadequate blood or plasma volume; fluid loss (hemorrhage, vomiting, diarrhea, burns, trauma)

A

Hypovolemic Shock

99
Q

What disease is this?

Less than 2 years of age: large abdominal mass, fever, weight loss

Older children: bone pain, respiratory symptoms, GI complaints

A

Neuroblastoma

100
Q

What disease is this?

Skin and joint hypermobility, atrophic scars, easy bruising

A

Ehlers-Danlos Syndrome (EDS) Classic (Type I/II)

101
Q

What disease is this?

Thrombotic complications, arterial/venous thrombosis, unexplained miscarriage/stillbirth

A

Anti-phospholipid Antibody Syndrome

102
Q

What disease/state is this?

Weight <60% normal for sex, height, and age; emaciated extremities, loss of subcutaneous fat and muscle, growth retardation, muscle loss, normal serum albumin, anemia, immune deficiency

A

Marasmus due to malnutrition

103
Q

What disease is this?

Progressive neurological damage, ataxia, vertical supranuclear gaze palsy, dystonia, dysarthria, psychomotor regression Ashkenazi Jews Foamy cytoplasm, zebra bodies

A

Niemann-Pick Disease Type C

104
Q

What disease is this?

Systemic involvement with progressive CNS disease that begins in adolescence or early adulthood; crumpled tissue paper cytoplasm

A

Gaucher Disease Type III

105
Q

What disease/state is this?

Visceral or intra-abdominal adiposity, insulin resistance, hyperinsulinemia, glucose tolerance, HTN, hypertriglyceridemia, decreased HDL levels

A

Metabolic Syndrome

106
Q

What causes Fragile X Syndrome? What is the inheritance pattern?

A

CGG trinucleotide repeat expansion in the FMR1 gene

X-linked

107
Q

What disease/state is this?

Marked weight loss, amenorrhea, decreased thyroid hormone, decreased bone density, hypokalemia

A

Anorexia Nervosa

108
Q

What disease/state is this?

Hypersomnolence at night and during the day; associated with sleep apnea, polycythemia, and eventual right-sided heart failure

A

Hypoventilation Syndrome (Pickwickian Syndrome)

109
Q

What are patients with Turner Syndrome at risk of develping?

A

Congenital heart disease, hypothyroidism with autoantibodies, glucose intolerance, obesity, insulin resistance

110
Q

Where do Wilm’s Tumors normally metastasize to?

A

Lungs

111
Q

What causes hypoventilation syndrome (pickwickian syndrome)?

A

Associated with obesity

112
Q

What patients are at an increased risk for a Wilm’s Tumor?

A

Patients with WAGR/WAGI Syndrome, Denys-Drash Syndrome, or Beckwith-Wiedemann Syndrome

113
Q

What disease is this?

Noncaseating granulomas

A

Leprosy

114
Q

What disease is this?

Macrocytic ovalocytes, hypersegmented neutrophils, hypercellular bone marrow

A

Megaloblastic Anemia

115
Q

What disease is this?

Fatigue, weakness, headaches, dizziness, SOB, arrhythmia

A

Iron Deficiency Anemia

116
Q

What disease is this?

Patients that have suffered a DVT/PE w/ no risk factors, are of young age (< 40-50), and have a family history

A

Factor V Leiden Mutation

117
Q

What disease is this?

Organomegaly, NO CNS involvement, reach adulthood; foamy cytoplasm, zebra bodies; affects Ashkenazi Jews

A

Niemann-Pick Disease Type B

118
Q

What causes HunterHurlers Syndromes?

A

Cannot degrade glycosaminoglycans

119
Q

What disease is this?

Caseating granuloma, central necrosis, Langhans Giant cells

A

Tuberculosis

120
Q

What causes Crohn’s Disease?

A

Immune reaction against intestinal bacteria, possibly self-Ags

121
Q

What disease/state is this?

Children: Sensory, motor impairments, decreased IQ, learning disabilities, blindness, psychoses, seizures, coma

Adults: Wrist-drop, foot-drop; peripheral neuropathies

A

Lead Poisoning

122
Q

What causes non-immune hydrops?

A

Cardiovascular defects, chromosomal anomalies, or fetal anemia (not Rh or ABO)

123
Q

What disease is this?

Decrease in alveolar septation, dysmorphic capillary configurations; increased levels of TNF, IL-1beta, IL-6, and IL-8

A

Bronchopulmonary Dysplasia

124
Q

What causes Neonatal Respiratory Distress Syndrome (Hyaline Membrane Disease)?

A

Deficiency in pulmonary surfactant, which allows alveoli to collapse; usually occurs in a preterm infant

125
Q

What disease/state is this?

Impaired memory, vision, hearing, and speech; also have generalized cherry-red color of skin and mucous membranes, confusion, headache/dizziness, blurry/double vision, SOB, chest pain, nausea/vomitting

A

Carbon Monoxide Poisoning

126
Q

What disease/state is this?

Frontal bossing, squared head, rachitic rosary, pigeon breast deformity, lumbar lordosis, bowing of the legs

A

Rickets due to vitamin D deficiency (children)

127
Q

What disease/state is this?

Scurvy, bone disease in growing children, hemorrhages, healing defects in both children and adults

A

Vitamin C Deficiency

128
Q

What causes Heparin-induced Thrombocytopenia?

A

Prothrombotic state caused by antibodies to heparin

129
Q

What disease is this?

Cardiac abnormality, abnormal facial features, thymic aplasia, cleft palate, hypocalcemia/hypoparathyroidism

A

DiGeorge Syndrome

130
Q

What disease is this?

Infant that is under 1 year of age that dies unexplainably and every other reasonable outcome has been ruled out

A

Sudden Infant Death Syndrome (SIDS)

131
Q

What disease is this?

Preterm infant w/ weight appropriate for gestational age; may need to be resuscitated at birth; difficulty breathing after birth, cyanosis within a few hours, rales; hyaline membranes in alveoli

A

Neonatal Respiratory Distress Syndrome (Hyaline Membrane Disease)

132
Q

What are patients with cadmium poisoning at an increased risk for?

A

Increased risk of lung cancer

133
Q

What disease is this?

Mental retardation, short stature, hypotonia, hyperphagia, obesity, small hands and feet, hypogonadism

A

Prader-Willi Syndrome

134
Q

What causes Pompe Disease? What is the inheritance pattern?

A

Lysosomal glucosidase deficiency

Autosomal recessive

135
Q

What disease is this?

Strong musty odor in urine/sweat, mental retardation, hypopigmentation of hair and skin

A

Phenylketonuria (PKU)

136
Q

What disease is this?

Premature ovarian failure, progressive neurodegenerative syndrome, intention tremors, cerebellar ataxia that may progress to parkinsonism

A

Fragile X Tremor/Ataxia

137
Q

What disease/state is this?

Swelling, pain, warmth/redness in lower extremities

A

Deep Vein Thrombosis (DVT)

138
Q

What disease is this?

Thin skin, arterial or uterine rupture, bruising, small joint hyperextensibility

A

EDS Vascular (Type IV)

139
Q

What is this thrombus called?

Venous thrombus that is red cell rich and occurs in stasis

A

Red Thrombus

140
Q

What causes Prader-Wili Syndrome?

A

Deletion on chromosome 15 of band q12 in the long arm of paternal chromosome

141
Q

What disease is this?

Large abdominal mass that is unilateral OR extends across midline down into pelvis; hematuria, pain in abdomen after trauma, intestinal obstruction, hypertension

A

Wilm’s Tumor

142
Q

What causes Huntington’s Disease? What is the inheritance pattern?

A

CAG triplet repeat expansion; degeneration of striatal neurons

Autosomal dominant

143
Q

What causes Factor V Leiden?

A

Heritable hypercoagulopathy mutation making Factor V resistant to cleavage by protein C

144
Q

What causes Marfan’s Syndrome? What is the inheritance pattern?

A

Inherited defect in fibrillin-1

Autosomal dominant

JLJ - Diseases (1 decks)

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