Autosomal recessive

Dynein mutations --> integral part of cilia --> sperm motility and mucuciliary escalator affected --> infertility and recurrent pulmonary infections

Raised nodular scars that develop because of excessive collagen production

People with dark skin particularly prone

CD4 count<100, progressive memory loss, confusion incontinence

MRI: mild brain atrophy

Histology: multinucleated giant cells, microglial nodules

LISTERIA MONOCYTOGENES

(in pregnancy)

Gram-positive rod acquired by the mother eating deli foods

Potentially fatal granulomas of infant following in utero infection (granulomatosis infantiseptica)

Treated with ampicillin

XY genotype with female phenotype

Normal development of breasts but no pubic or axillary hair changes

Absence of cervix or uterus

Females with XO genotype

Typically short in stature, rarely reaching 5 feet

Germinal tissues in ovaries replaced with fibrous streaks

Normal internal reproductive tract

Diminished estrogen (primary ovarian disorder) leading to increased LH and FSH

Pneumocystis pneumonia, Kaposi sarcoma, cryptosporidiosis, Mycobacterium-avium-intracellulare, HIV encephalopathy

CD4 cell count: 0-199 cells/mm3

Mural thrombi, flattened trabeculae, stenosed valves

Infantile and adolescent forms

Recurrent, necrotizing vasculitis of medium and small muscular arteries.

Multi-organ system involvement and constitutional symptoms: fever, weight loss, myalgias, arthralgias

Recurrent acute and chronic inflammatory disorder causin segmental thrombosis in arteries and veins of the extremities

Symptoms: vascular insufficiency, ulceration, gangrene

Typical in smokers who started smoking at an early age

Most common breast mass in men under age 25

Benign proliferation of ductal and stromal elements of breast

Can involve one or both breasts

Decreased metabolic rate

Decreased use of ATP

Decreased adenosine

Decreased blood flow

Increased myogobin oxygen saturation

Increased intracellular PO2

Muscle atrophy

Decreased capillarity

Convulsions and fasciculations, peripheral neuropathy

Toxicity of isoniazid

Tabes dorsalis

Gumma (granuloma that forms in CNS and vasculature)

Altered sensation in the feet: "like walking on pebbles"

PE: Clawing of toes with flexion of interphalangeal joints and extension of metatarsophalangeal joints --> atrophy of lumbricals and interossei

Corns and callosities that predispose to ulcers that heal poorly

Young, obese, hirsute females of reproductive age

Infertility

Elevated GnRH and elevated LH:FSH ratio

Androgens produced by theca cells in response to LH stimulation

Elevated androgens in follicular phase of menstrual cycle --> several immature cystic follicles

Clasically seen in preschool children

Highly infectious; can spray through daycare

Large golden-crusted lesions and weeping areas

Usually caused by S. aureus; S. pyogenes sometimes implicated

Treatment typically with penicillins

Elevation of methionine and homocysteine

Mental retardation, poor vision, symptoms ressembling Marfan's syndrome, limited joint mobility, thrombophilic state

Hereditary (20% cases, e.g. Fanconi's anemia)

Acquired (80% cases)

Pharamcologic agents causing severe marrow hypoplasia: busulfan, vincristine

Idiosyncratic causes: chloramphenicol, anticonvulsant drugs (e.g. carbamazepine, phenytoin), phenylbutazone, gold.

Environmental exposures: benzene, insectisides

Preceded by viral infections: CMV, parvovirus, hepatitis

Acquired: after parvovirus B19 infection

Selective deficient of erythrocytic lineages

Giant early red-cell precursors (pronormoblasts/proerythroblasts)

Ingestion of eggs of Taenia solium

Swine serve as intermediate host for the tapeworm --> humans acquire infection from swine and become definitive host

Autoinfection with larval cyst

Cysts = space-occupying lesions

Can cause seizures and/or hydrocephalus

Seizures = most common initial presentation

Signs of increased intracranial pressure may also be present

Most common (90%) hiatal hernia

Gastroesophageal junction significantly above esophageal hiatus of diaphragm

Associated with gastric reflux

Visual disturbances (yellow-green halos), nausea, vomiting, drowsiness, fatigue, cardiac arrhythmias

Toxicity increased with hypokalemia

Deficiency in arylsulfatase A in leukocytes

Accumulation of cerebrosidase sulfates (e.g. galactosyl sulfatide) --> intra- and extracellular spherical masses that stain purplish with acid cresyl violet

Presents in infancy with flaccid paralysis, lack of coordination, hyporeflexia

Funduscopic examination shows optic atrophy

Macrolide that inhibits calcineurin-mediated IL-2 transcription

Inhibits the first phase of T cell activation

Reduced inhibin levels

Decreased ovarian function = decreased estradiol and androgens

Reduction in estrogen --> increase in GnRH --> increased FSH and LH

Small or medium-sized vessel vasculitis

Causes hematuria, albuminuria, renal failure due to involvment of kidneys and GI tract

Typical patient is young adult male

May occur sporadically or as a complication of hepatitis B or C

Symptoms may include: small bowel infarction, low-grade fever, weight loss, malaise, abdominal pain, diarrhea, GI bleeding, arthralgias, myalgia

Idiosyncratic hepatic failure

Malignant hyperthermia

I-CELL DISEASE

(mucolipidosis II)

Defect of phosphotransferase activity in Golgi apparatus

Enzyme phoshporylates mannose on enzymes destined for lysosomes

Coarse facial features, gingival hyperplasia, macroglossia

Craniofacial abnormalities, joint immobility, club-foot, claw-hand, scoliosis

Psychomotor and growth retardation

Labs: elevated serum levels of acid hydrolases and glycosylases

Uniformly black liver

Defect in canalicular organic anion transporter

Hereditary, relatively mild, conjugated hyperbilirubinemia

Elevated unconjugated bilirubin as well

Occurs with certain systemic illnesses (e.g. septicemia, pneumonia, starvation, malnutrition, after major surgery)

Decrease in 5'-monodeiodinase activity in peripheral tissues --> conversion of T4 to T3 impaired --> blood levels of T3 decrease

Normal TSH and T4, low T3

Can commonly cause paraneoplastic syndromes

Associated with L-myc oncogene

Associted with lung scarring

Associated with K-ras mutations

Most common non-small cell lung cancer in the U.S.

Pancarditis, arthritis, subcutaneous nodules, chorea, erythema marginatum

Type II hypersensitivity reaction caused by cross-reaction between anti-Streptococcus pyogenes antibodies and body tissues (e.g. myocardium and joints).

Second-generation sulfonylurea

MOA: stimulate pancreatic beta-cell secretion of insulin: block K+ channels --> depolarize pancreatic beta-cells --> increase Ca2+ influx --> insulin release

Undergoes hepatic clearance

Safer to use in patients with renal failure

Nuclear fragmentation followed by lysis

Neutrophils at a site of acute inflammation undergo this process

Diazepam, midazolam, olanzapin, or haloperidol --> anti-psychotic +/- benzodiazepine

Ammonium chloride to acidify urine and hasten renal excretion

Tight junctions

Extend completely around apical borders of epithelial cells

Serve to seal the intercellular clefts from contact with the outside environment

Adherens junction

Band-like junction near apical region for attachment to adjacent epithelial cells, forming an "adhesion belt"

Desmosome

Juxtaposition of two disk-shaped plaques from adjacent cells

Intermediate filaments radiate away from the plaques

Branch of CN VII

Controls salivation from submandibular and sublingual glands

Late complication of large anterior wall or anteroseptal transmural MI (after 4-8 weeks)

Thin fibrous scar formed in lieu of lost myocardial tissue offers diminshed resistance to intraventricular pressure --> aneurysm

CRI-DU-CHAT SYDNROME

Terminal or insterstitial deletion of 5p

Mental retardation

Microcephaly, low-set ears, micrognathia

Epicanthal folds

Deletion of 15q11-q13 in mother

"Happy puppet" syndrome

Always smiling but lacks speech

Hyperactive, hypotonic

Mental retardation, seizures

Dysmorphic facial features

Ataxic, puppet-like gait

Deletion of 15q11-q13 in father

Short stature and obese with small hands and feet

Hyperphagia

Dysmorphic facial features

Mental retardation

Primary olfactory cortex

Olfactory nerves on mucosal side of cribiform plate --> send processes through plate to synapse at olfactory bulb --> sends axons to pyriform cortex

Red cells with peripherally dense rim of hemoglobin enclosing a zone of pallor, often with a darker central punctum

Seen in three conditions: thalassemia, HbC disease, liver disease

Spur cells (star-shaped RBCs)

Abetalipoproteinemia (severe burns, liver disease, hypothyroidism)

Teardrop cells

Scarring of bone marrow (myelophthisis)

Splenic dysfunction

Burr cells

Often drying artifact

Uremia

RBCs stacked like coins

Multiple myeloma

Fragmented cells

Intravascular hemolysis

Caused by coronary artery spasm --> decreased blood flow through atherosclerotic vessels

Usually occurs in younger patients

ECG typically shows ST segment elevations

Treat with Calcium channel blockers

Chest pain with progressively less exertion then occurring at rest

Often precedes MI

May be unresponsive to nitroglycerin

Paroxysmal prechordial or substernal chest pain

Transient myocardial ischemia without myocardial infarction

Paroxysms associated with a fixed amount of exertion

Typical attacks last <10 minutes

Usually relieved with rest or sublingual nitroglycerin

ECG may show ST segment depression (ischemia limited to subendochardium)

Incomplete fusion of lateral body folds

Abdominal viscera protrude through abdominal cavity

Usually to right of midline at site of regression of right umbilical vein

Associated with elevated AFP levels

Light gray shiny sac at base of umbilical cord filled with loops of small intestine

Failure of intestinal loops to retract from umbilical cord

Drainage of meconium from umbilicus

Direct connection bewteen intestinal lumen and outside of body at the umbilicus

Due to persistence of vitelline duct

Form of juxtaglomerular hyperfunction

Autosomal recessive inheritance

Elevated renin levels --> increased angiotensin and aldosterone secretion (secondary hyperaldosteronism) --> elevation of ATII --> endocytosis of ATII receptors and insensitivity of vascular smooth muscle to ATII

Labs: Hypercalciuric metabolic alkalosis, hypernatremia, hypokalemia

Decreased stature may be observed

Most frequent mutation causing CF

Interferes with proper folding-->

abnormal chloride channel protein --> destroyed in proteasomes

Differences in severity of symptoms for same genotype

Allelic heterogeneity can contribute to variable expression

Synthetic somatostatin analogue

Useful in the management of acromegaly

Fluid accumulation in the anterior fascial compartment of the leg--> increased pressure --> compression of vessels, nerves and muscles

Can cause impairment of primary actions of deep peroneal nerve > dorsiflexion and inversion of foot, extension of toes

Unable to move the extremities and most of the face, often limited to communication via blinking or vertical eye movements

No abnormality of consciousness

Thrombotic stroke to the basilar artery

UTI > pyelonephritis associated Pilli

Neonatal septicemia > capsule - K1 serotype endotoxins

Gastroenteritis ETEC > LT-heat labile toxin, ST-stimulates granulocyte cyclase

Infantile diarrhea/EPEC > adherence to M cells

ETEC > Invasions of large bowel

HUS 0157-H7 > Verotoxin-Shigella-like toxin

EAEC > fimbriae produce biofilm

Innvervates muscle of medial compartment of the thigh > adduct thigh at hip

Infants 6 weeks to 6 months with a history of neonatal conjuctivitis during first 2 weeks of life

S&S: Low-grade fever, tachypnea, crackles, wheezing, eosinophilia

Life-threatening emergency

Inappropriate intrapancreatic activation of digestive enzymes and subsequent autodigestion of pancreatic parenchyma

Free fatty acids combine with Ca2+ to produce soaps, which precipitate in areas of necrosis leading to chalky-white deposits ("fat necrosis").

Subpleural caseous granuloma above or below the lobar fissure, accompanied by hilar lymph node granulomas

Characteristic of primary TB infection

Defect in epithelial transport of neutral amino acids, including tryptophan which can be a precursor for niacin

Poor amino acid transport leads to poor dietary amino acid absorption and excess secretion in urine

Can mimic pellagra (dementia, diarrhea, dermatitis)

Branched-chain ketoacid dehydrogenase deficiency

Branched chain ketoacidosis from infancy

Weight loss, lethargy, alternating hypertonia/hypotonia, maple syrup odor of urine

Ketosis, coma, death if untreated

Treatment: dietary > decreased valine, isoleucine and leucine in diet

PARAMYXOVIRUSES

(MEASLES AND RSD)

Proposed viral etiology of Paget's disease

Virus resides in osteoclasts of affected bones

Isolated lymphocytosis, with majority of circulating lymphocytes appearing small and "mature" (co-express CD19 and CD5)

Seen mostly in elderly patients

Treat with chlorambucil (nitrogen mustard)

Common etiologic agent of infective esophagitis

"Punched-out" ulcers in the esophagus

More frequent in immunocompromised hosts

Nonspecific histology (chronic inflammatory infiltrate) except for glassy intranuclear eosinophilic inclusions

Autosomal recessive trait

Extreme sensitivity to sunlight, skin changes, predisposition to malignancy

Defective excision repair mechanism for UV-damaged DNA, which leads to thymine dimers

Thymine bases of adjacent thymidine nucleotides form hydrogen bonds with each other rather than with their complementary bases on opposite DNA strand

Cell wall contains mycolic acid

These long-chain fatty acids give organism resistance to environmental stresses and acid-fast staining characteristics

Immunosuppressed patient with fungal meningitis

Budding encapsulated yeast acquired from pigeon droppings

Urease positive

Diagnosed with latex particle agglutination of CSF and India ink stain

"TRIPTANS" OR 5-HT 1D/1B AGONISTS

(Sumatriptan, almotriptan, rizatriptan, zolmitriptan)

Used in the treatment of migraine with or without aura

Produce cerebral vascular vasoconstriction

OCTREOTIDE

(Synthetic somatostatin analog)

FTA-ABS

(Fluorescent treponemal antibody absorption test)

Used to diagnose syphilis

Positive in both serum and CSF

Late sequelae of syphilis occurring 15-20 years after infection

Mental deterioration preceding motor system deterioration, leading eventually to "general paresis" with mutism and incontinence

Personality, Affect, hyperreactive Reflexes, Argyll-Roberston pupils in the Eyes, defects in the Sensorium, Intelectual decline, deficient Speech

Drug used to decrease serum ammonia levels

Acidifies intestinal contents to trap ammonia as ammonium

Centrally ulcerated mass of the mucosa within the mouth

Risk factors: alcohol use, tobacco use, HPV infection

Small, benign neoplastic papillary tumor found within the larger ducts of the breast

Typically located near the nipple under the aerola

May produce a serous or bloody nipple discharge

Both myoepithelial and epithelial cells in the papillary fronds

Type of necrosis occurring in brain

Tissue appears liquefied under microscope, without preservation of cell outlines

Results from release of hydrolytic enzymes released from dying cells

Pathology seen with stroke

Prostaglandin E2

Given as a vaginal insert

Induces cervial softening, effacement, and cervical dilation and uterine contraction

Labor-inducing agent

Spherical cysts with granular cytoplasm containing up to four nuclei

Blood diarrhea

Used to treat pregnant women with hyperthyroidism

Thioamide that blocks thyroid peroxidase, inhibitin thyroid hormone synthesis

BETA BLOCKERS

(Propanolol)

ATROPHIC MACULAR DEGENERATION

(Dry form)

EXUDATIVE MACULA DEGENERATION

(Wet form)

HIRUDINS

(e.g. Lepirudin)

Pulseless disease

Prevalent in young Asian women

Inflammatory process that produces fibrous thickening of the aortic arch, causing narrowing or obliteration of origins of arterias that form the arch

Prophylaxis of RSV

Monoclonal antibody directed against the fusion protein of RSV, preventing infection of the host cell

CHRONIC ENDOMETRITIS

(Chlamydia infection important predisposing factor)

Spongiform change in the gray matter

Rapidly progressing dementia characterized by memory loss and startle myoclonus

Abnormal EEG activity

Death usually occurs within 6-12 months of onset

Subscapularis

Supraspinatus

Teres minor

Infraspinatus

Restrictive heart disease that causes endomyocardial fibrosis with associated eosinophilia

Most common in tropical/temperate climates

Calcium pyrophosphate dihydrate

(Psuedogout)

Gram-negative, oxidase-negative bacillus belonging to family Enterobacteriaceae

Most common cause of pseudoappendicitis in U.S.

Transmitted via contaminated pork or milk

IBD (UC > CROHN'S)

ADENOMATOUS POLYPS

GARDNER/TURCOT

HIGH PROTEIN/FAT, LOW FIBER DIETS

Deficiency of iodine in childhood producing short stature with irreversible mental retardation

Deficient thyroid and growth hormone

Other symptoms: Protruding tongue and coarse facial features

IMMUNE HEMOLYTIC ANEMIA

(ABO incompatibility)

WESTERN BLOT

(Shows antibodies to at least two of three HIV antigens>gp24, gp41, gp120)

X-linked partial combined immunodeficiency

Characteristic lab values: decreased serum IgM, normal IgG, elevated IgA/IgE, T-cell deficits

Combined partial T- and B-cell deficiency that presents with ataxia, telangiectasia, and IgA and IgE deficiencies.

Mutation in kinase invovled in cell cycle

X-linked immunodeficiency

Mutation in CD40L on activated Th cells > deficiency in class switching

Recurrent mucosal infections

Occupational exposure in thos working with cattle (TX, CA, FL, VA), in which it produces spontaneous abortion

Produces granulomatous disease with caseating granulomas

Undulating fever of unknown origin and may cause endocarditis, affecting the aortic valve