Diseases

Front 1

Tuner's Syndrome

Back 1

- small stature
- webbed neck
- coarctation of the aorta
- poor breast development
- widely spaced nipples
- wide carrying angle of arms
- rudimentary ovaries (gonadal streak)
- primary amenorrhea
- multiple pigmented nevi

Hint 1

- 1:2000 females
- amenorrhea = ovaries gone by puberty?
- Most have monosomy X (XO)
- Some have structural defects of X
- Some are mosaics XO/XX
- Many spontaneously abort

Front 2

Kleinfelter's Syndrome

Back 2

- incr. FSH, LH
- tall, slim, eunuchoid stature
- gynecomastia
- feminized habitus
- testicular atrophy

Hint 2

- 1:500 males
- 2 or more X with 1 or more Y
- 82% XXY
- 15% mosaics (XXY/XY)

Front 3

True hermaphrodite

Back 3

- right sided ovotestis, vas deferens, epididymis
- left sided ovary, hemiuterus, fallopian tube
- hypospadius

Hint 3

- True = both ovarian AND testicular tissue

Front 4

Down's Syndrome

Back 4

- flat occiput, growth failure, mental retardation
- congenital heart disease, megacolon
- short, broad hands with "simian crease"
- risk of acute lymphoblastic leukemia
- slanted eyes, epicanthal fields, "brushfield spots"

Hint 4

- 1:700 newborns
- trisomy 21
- measure with "triple test" = maternal alpha-fetoprotein, uncongugated estriol, hcg = 70% detection (amniocentesis to confirm)
- 95% trisomy 21 due to non-disjunction in meiosis in oocyte- maternal age effects
- 4% translocation type- may be familial
- 1% mosaics due to non-disjunction in embryo- less severe phenotype

Front 5

Edward's Syndrome

Back 5

- mental retardation, prominent occiput
- micrognathia
- dysmorphic ears
- "rocker bottom" feet
- congenital heart defects
- renal malformations

Hint 5

- trisomy 18

Front 6

Patau Syndrome

Back 6

- mental retardation, microcephaly
- microphthalmia
- cleft lip and palate
- polydactyly
- cardiac defects
- umbilical hernia
- "rocker bottom" feet

Hint 6

- trisome 13

Front 7

Fragile X Syndrome

Back 7

- mental retardation
- long face
- large ears
- large testicles

Hint 7

- most common mental retardation
- due to trinucleotide repeat amplification (FMR-1)
- 1:1550 m, 1:8000 fm
- similar to "X-linked" but CARRIER males, affected females
- anticipation

Front 8

Marfan's Syndrome

Back 8

- tall, long fingers (arhnodactyly)
- kyphoscoliosis
- pectus excavatum
- lens dislocation
- dilated aortic ring, high risk of aortic dissection

Hint 8

- 1:5000 affected
- Fibrillin 1 gene: acts as scaffolding for elastin fibers
- Increased sensitivity to transforming growth factor beta

Front 9

Ehlers-Danlos Syndrome

Back 9

- stretchy, fragile skin
- lax ligaments with joint dislocations

Hint 9

- affectd structure or function of collage

Front 10

Neurofibramotisis 1

Back 10

- multiple neural tumors
- pigmented skin lesions (cafe' au-lait)
- pigmented iris spots (Lisch nodules)
- axillary freckles
- possible mental retardation
- "can of worms" gross morophology

Hint 10

- “Von Recklinghausen’s disease”
1:3000 individuals
- may have elevated risk of other tumors

Front 11

Familial Hypercholesterolemia

Back 11

- severe atherosclerosis
- defective LDL receptor
- possible early death from severe atherosclerosis if homozygote

Hint 11

- heterozygote: 1/500; homozygote: 1/1,000,000
- serum chelesterol 300-600 mg/dl (2-5x nl)

Front 12

Galactosemia

Back 12

- cataracts
- brain damage
- decr. galactose-1-phosphate uridyl transferase
- liver can have fatty change to cirrhosis

Hint 12

- tx = just withold galactose from diet

Front 13

Phenylketonuria (PKU)

Back 13

- decreased pigmentation
- deficiency of phenylalanine hydroxylase
- increased phenylalanine levels => brain damage

Hint 13

tx = low phenylalnine diet during development

- MUST treat affected females in pregnancy

Front 14

Cystic Fibrosis

Back 14

- thick, sticky secretions in lungs and pancreatic ducts
- recurrent pulmonary infections, sinusitis
- chronic pancreatitis
- malabsorption
- severe enough => cirrhosis of liver
- male sterility
- meconium ileus in newborn
- defective chloride channel

Hint 14

- test with sweat chloride test
- pancreatic blockage (w/ atrophy and exocrine failure)

Front 15

Gaucher's Disease

Back 15

- deficiency of glucocerebrosidase
- hepatosplenomegaly
- infant +=> CNS involvement, early death
- <name> cells = "crinkled paper" cytoplasm

Hint 15

- european jewish ancestry
- pale cytoplasm

Front 16

Tay-Sachs Disease

Back 16

- deficiency of Hexosaminidase A => with accumulation of Gm2 gangliosides
- progressive motor and mental deterioration with blindness and death
- "cherry red spot" on macula of eye

Hint 16

- european jewish ancestry
- pale cytoplasm

Front 17

Niemann-Pick Disease

Back 17

- sphingomyelinase deficiency => accumulation of sphingomyelin
- type A = infantile, CNS and visceral involvement, death in early childhood
- type B = organomegaly, NO CNS involvement, massive splenomegaly

Hint 17

- pale cytoplasm

Front 18

Alkaptonuria (Ochronosis)

Back 18

- black urine
- black connective tissue (tendon, bone)
- joint spaces stain black = early osteoarthritis

Front 19

Prader-Will Syndrome

Back 19

- mental retardation
- short stature
- hypotonia
- obesity with hyperphagia
- hypogonadism

Hint 19

- Paternally derived deletion
- maternal copy of prader-willi gene is non-functional (due to imprinting)
- epigenetic silencing (via methylation)

Front 20

Angelman Syndrome

Back 20

- mental retardation
- ataxic gait
- seizures
- inappropriate laughter
- "happy puppet"

Hint 20

- maternally derived deletion
- paternal copy of angelman gene is non-functional (due to imprinting)
- epigenetic silencing (via methylation)

Front 21

Necrotizing Enterocolitis

Back 21

- dead colon resulting from severe hypoxia

Front 22

Hyaline Membrane Disease

Back 22

- lack of surfactant => alveolar collapse (atelectasis)

Front 23

Broncho-Pulmonary dysplasia

Back 23

- overinflated and underinflated areas of lung w/ squamous metaplasia and pulm. HTN

Front 24

Neonatal Respiratory Distress Syndrome

Back 24

- hyaline membrane disease
- hypoxemia
- if chronic => broncho-pulmonary dysplasia
- hypoxic complications
-- retinopathy of prematurity
-- brain hemorrhages
-- necrotizing enterocolitis

Hint 24

- tx = synthetic surfactant

Front 25

Sudden Infant Death Syndrome

Back 25

- unexpected death of an infant with "negative" autopsy

Hint 25

- greatly decreased incidence with "back to sleep" campaign (babies put to sleep on backs)
- no co-sleeping

Front 26

Fetal Hydrops

Back 26

- massively edematous dead baby
- common in many still born infants
- potential anemia, heart defect, pulm. problem, chromsome problem, or infection

Front 27

Kernicterus

Back 27

- high levels of bilirubin in brain damaging neurons
- hemolytic disease of the newborn

Hint 27

- hemolytic anemia = break down of RBCs => lots of bilirubin in blood

Front 28

TORCH Complex
- Toxoplasmosis
- Other
- Rubella
- CMV
- HSV
- Syphillis

Back 28

- microcephaly
- microphthalmia, cataract, conjunctivitis, chorioretinitis
- congenital heart disease
- congenital lung disease
- hepatomegaly & jaundice
- polymicrogyria

Front 29

Oligohydraminos Sequence

Back 29

- clubbed foot
- hydronephrosis (possible renal agenesis)
- pulmonary hypoplasia (resp. insufficiency)
- possible uretral atresia
- Potter's Facies
- flexion contractures

Front 30

Childhood Benign Tumors

Back 30

- Congenital "Strawberry" Hemangioma
- Congenital Nevus
- Lymphangioma (cystic hygroma)

Front 31

Childhood Malignant Tumors (Cancers)

Back 31

- leukemias and lymphomas
- brain tumors

primitive:
- hepatoblastoma
- Wilm's tumor
- Retinoblastoma

Front 32

Bruton's X-Linked Agammaglobulinemia

Back 32

- presents at 6 months of age
- recurrent bacterial infection (H.influenza,Strep.pneumonia,S.aureus)
- susceptible to some viral infections, especially GI entering viruses like enterovirus
- all classes of immunoglobulins are depressed (no BCells in circulation => no plasma cells either)
- underdeveloped germinal centers (atretic follicles)
- TCell mediated rxns are normal
- mainly affects males

Hint 32

- BCell defect => maturation stopped after rearrangement of heavy chain genes => nl. lvls of PRE-BCells, but virtually no B or Plasma cells

Front 33

IgA Deficiency

Back 33

- recurrent respiratory, GI, GU infections
- anaphylactic shock from blood transfusion
- severely decreased serum and secretory IgA
- presentation in adulthood

Hint 33

- 1/600 european descent
- normal lvls of IgA BCells, but they're not properly differentiated (expressing IgM and IgD)

Front 34

Hyper IgM Syndrome

Back 34

- very low IgG, NO IgA or IgE
- normal IgM and IgD levels

Hint 34

- failure of isotype switching from IgM

Front 35

Common Variable Immunodeficiency

Back 35

- recurrent sinopulmonary infection, herepesvirus infection, enterovirus, Giardia
- high frequency of autoimmune disorders and malignancy (especially lymphoid)
- hyperplastic lymphoid follicles

Hint 35

- TCell signalling defect
- manifests later in life than Bruton's, and symptoms are less severe

Front 36

DiGeorge Syndrome

Back 36

- failure of development of 3rd and 4th pharyngeal pouches
- thymic hypoplasia/aplasia
- recurrent viral infection in pts w/ severe hypoplasia (thymus educates TCells!)
- possibly lacking parathyroid glands
- commonly have congenital heart disease
- other organs possibly affected (esophageal atresia, bifid uvula, upper limb malformationss)
- "elf-like" facies (hypertelorism (wide set eyes), abnormally shaped mouth (loss of upper bow of lip), low set ears, small chin)

Hint 36

- gene deletion on chromosome 22 (rarely familial)
- graft vs host disease may develop in aplastic DiGeorge

Front 37

Severe Combined Immnuodeficiency (SCID)

Back 37

- (infants in first few months of life) recurrent thrush, diaper rash, failure to thrive
- diarrhea, pneumonia, otitis, sepsis, skin infection
- severe opportunistic infections
- transplacental transfer of maternal TCells or nonirradiated blood products cause graft vs host disease
- routine immunization can be fatal
- bone marrow transplant or gene therapy needed to survive

Hint 37

- lymphopenia (due to lack of functioning TCells)
- no response to mitogens or antigens
- BUBBLE BOY!!!!!!!

Front 38

Type I Hypersensitivity

Back 38

- immediate type-reaction
- antigen reaction with IgE Ab's bound to mast cells (degranulation)
- hives
- anaphylaxis
- hay hever

causes:
- food allergy
- some asthma

Hint 38

- more Th2 phenotype favoring when less pathogens and such for the Th1 to deal with

Front 39

Type II Hypersensitivity

Back 39

- Ab's involved => IgG or IgM
- Ag on cell surface or extracellular matrix
- results in: Ab-dependent cellular cytotoxicity (ADCC) or Ab-mediated cellular dysfunction

causes:
- Graves Disease (Ab to TSH receptor)

Hint 39

- may activate complement

Front 40

Type III Hypersensitivity

Back 40

- immune complex disease
- antigen-Ab complexes deposited in tissues
- activation of inflammatory rxn leads to tissue damage

causes problems in:
- kindney = glomerulonephritis
- joints = arthritis
- vessels = vasculitis
- skin = rash

Hint 40

- moderate Ab excess is the problem (too small for mac's to eat, too big to escape places like joints)
- detected by Immunoflouorescence microscopy

Front 41

Type IV Hypersensitivity

Back 41

- TCell mediated hypersensitivity
- delayed type
- TCell mediated cytotoxicity T8 lymphs:
- transplant rejection
- elimination of virally infected cells
- killing tumor cells

causes:
- granulomas
- contact dermatitis (POISON IVY!)

Hint 41

- poison ivy on first exposure has its tiny hapten attach to a protein and active a bunch of THelper cells (sensitization) => next exposure, boom!

Front 42

Systemic Lupus Erythematosis (SLE)

Back 42

- skin rash (butterfly wing on face)
- oral ulcers
- nephritis
- anemia, thrmobocytopenia, lymphopenia
- myalgia, arthritis
- osteoporosis&avascular necrosis

dx with:
- positive ANA: 95%
- Ab's against double stranded DNA and smith antigen
- many other auto-antibodies: blood cells, false+ syphilis test, proteins complexed to phospholipids
- polyclonal increase in gamma globulins
- may have low complement in active disease

Hint 42

- prototypic systemic autoimmune disease

Front 43

Progressive Systemic Sclerosis (scleroderma)

Back 43

- autoimmune chronic inflammation
- widespread damage to small vessels
- esophageal stricture
- pulmonary fibrosis
- vascular renal damage
- raynauds phenomenon (discoloration of fingers)
- progressive interstitial fibrosis in skin and other organs
- sclerosis of subcutis (thick bound down skin = THICK DERMIS), calcinosis cutis

- cause: TCells stimulating fibroblasts to make collagen

Hint 43

- true mechanism unknown...

Front 44

Polymyositis (dermatomyositis)

Back 44

- proximal muscle weakness
- lymphoid inflammation in muscle with atrophy
- about 1/2 have +ANA
- dermatomyositis: muscle disease + periorbital skin rash

Hint 44

- dermatomyositis has association with cancer, so think "may be presenting sign of cancer"

Front 45

Sjorgren's Syndrome

Back 45

- dry mouth and/or dry eyes
- lymphoid inflammation and destruction of salivary and/or lacrimal glands
- iin 50-80% +ANA, tend to have "SS-A" or "SS-B" Ab's
- increased risk of lymphoma in affected organs

Hint 45

- rare to have a "salivary gland lymphoma", since lymphocytes don't usually hang around glands
- so if you find a salivary gland 3x the normal size (especially on only one side), biopsy that shiz!