QB - DISEASES Flashcards
Burkitt lymphoma
t(8;14)
c-myc
CML
t(9;22) - Philadelphia chromosome
bcr-abl “enable things to occur rapidly = increase TYROSINE KINASE activity”
tyrosine kinase = initiator of many processes
ELEVATED WBCs and platelets
Mantle cell lymphoma
t(11;14)
cyclin D1 - promoter of G1 to S-phase transition of cell cycle (cancer!!)
CLL
Deletion of 13q
AML
M3 variant of AML
Auer rod
t(15;17)
Follicular lymphoma
t(14;18)
BCL2 - antiapoptosis
Li-Fraumeni
Autosomal dominant
mutation of p53 (tumor suppressor gene)
Sarcomas
Tumors = breast, brain, adrenal cortex
Wiskott-Aldrich (triad)
- eczema
- Recurrent infections
- Thrombocytopenia
Hemolytic Uremic Syndrome (HUS) symptoms; what organisms cause HUS?
- Microangiopathic hemolytic anemia (conjunctival pallor = anemia)
- Thrombocytopenia
- Acute renal failure
Due to Shiga toxin-producing organisms: Shigella dysenteriae or E. coli O157:H7
Aplastic anemia
Bone marrow damaged - deficiency in all 3 blood cell types
Chloramphenicol use
Sickle cell disease (parvovirus B19)
DiGeorge syndrome
Maldevelopment of 3rd & 4th pharyngeal pouches
Hypoplasia of thymus & parathyroids
Cardiac & aortic arch abnormalities
Characteristic facies
Chediak-Higashi syndrome
Oculocutaneous, hair, skin albinism
Peripheral neuropathy
Immunodeficiency (phagocyte-phagosome-lysosome fusion defect) –> recurrent pyogenic infections
Ataxia-telangiectasia syndrome
Progressive ataxia w/ telangiectasia + immunodeficiency (combined defect of B&T-lymphocytes)
CO poisoning
No effect on PaO2 (partial pressure of oxygen dissolved in plasma)
Reduces O2 unloading from Hgb and prevents O2 binding to Hgb
Multiple Myeloma
Plasma cells infiltrate bone marrow - “clock face” nuclear chromatin
Features:
1. Anemia (due to infiltration of plasma cells and inadequate hematopoiesis)
2. Bone resorption (IL-1 activates osteoclasts), IL-6
3. Hypercalcemia (due to bone destruction)
4. Susceptibility to infection (M protein, Ig light chains BENCE JONES protein); Hyperimmunoglobulinemia –> Rouleaux formation –> increased ESR
5. AL amyloid (“apple-green birefringence w/ Congo red stain)
6. Renal failure (deposition of amyloids in kidney tubules, heart, tongue, nervous system)
Diarrhea (parasitic – eosinophilia seen)
- Strongyloides
- Ancylostoma
- Ascaris
- Toxicara
- Trichura
- Trichinella
Diarrhea (bacterial)
EIEC or Shigella – pus + RBC
EHEC (O157:H7) – NO pus - ONLY RBC!
Mycoplasma pneumoniae
“Walking pneumonia”
Anemia due to RBC lysis via COLD agglutinins (share antigens similar to RBCs)
Stevens-Johnson syndrome + joint pain sequelae
Requires cholesterol to grow (doesn’t have peptidoglycan layer)
Chest CT looks like severe pneumonia even though patients don’t seem as sick
CMV
DS-DNA enveloped virus
Opportunistic
Transplant patient
Enlarged, centrally located epitherlial cell + INTRANUCLEAR CYTOPLASMIC inclusions
Haemophilus influenza
Require Factor X (hematin) and V factor (NAD+) to survive
Can be grown on medium w/ S. aureus or on chocolate agar
Diff. btwn Staph and Strep
Catalase + –> STAPH
Corynebacterium diphtheriae
AB exotoxin
Toxin-mediated disease
E. coli
Conjuation via bacterial pili
Grows on MacConkey and EMB (eosin methylene blue) agar
Gram -
Neonatal meningitis (K-1 antigen)
Group B Strep (GBS)
1 Cause of neonatal meningitis
Others:
Listeria
Klebsiella
H. influenzae (type b)
E. coli
Enterobius vermicularis
Scotch tape test
Perianal itching (at night)
Albendazole/Mebendazole
Pyrantel pamoate (pregnant pts.)
Loa loa
Wuchereria bancrofti (lymphatic filaris)
Diethylcarbamazine
Strongyloides sterocoralis (strongyloidiasis)
Onchocerca volvulus (onchocerciasis)
Ivermectin
Trypanosoma cruzi (Chagas disease)
Nifurtimox
Schistosoma (schistosomiasis)
Clonorchis sinensis (clonorchiasis)
Paragonimus westermani (paragonimiasis)
Praziquantel
Hemolytic Uremic Syndrome (HUS)
E. coli 0157:H7
Occurs in children UNDER 10
Shiga like toxin
Contaminated ground BEEF
Bloody diarrhea
Diarrhea (FOOD consumption)
S. aureus - custard/mayo/processed salted meats
Preformed toxins - WATERY diarrhea (not bloody) - RAPID symptoms due to preformed toxins (resolves in 24hrs)
Bacillus cereus - fried rice
Vibrio parahaemolyticus - raw oysters - HIGH VOLUME, WATERY diarrhea (like cholera)
Salmonella - raw egg/raw chicken
Clostridium botulinum - improperly canned foods
Histoplasmosis in HIV patient
Pulmonary infiltrates w/ HILAR LYMPHADENOPATHY
Oval/round yeasts within macrophages (bone marrow slide)
Sabouraud’s agar = hyphae
HEPATOSPLENOMEGALY = likes reticuloendothelial system
Histoplasmosis - Mississippi & Ohio River Valley
Coccidioides immitis
Southwest US (Arizona) - San Joaquin Valley fever
Spherules rupture –> release endospores
Lung disease -> meningitis (HIV pts.)
Cryptococcus neoformans
Pigeon droppings
MENINGITIS + pulmonary infections (HIV pts.)
Budding yeasts w/ thick capsules
Stains red on mucicarmine stain - use bronchopulmonary washings
Opportunistic
CSF findings w/ India ink - confirms diagnosis
Peripheral clearings “halos” due to think polysaccharide capsules
Aspergillus fumigatus
Colonize old lung cavities (TB patients)
Hemoptysis
Opportunistic mycoses
Candida albicans
A. fumigatus
Mucor & Rhizopus
Clostridium perfringens
Gram + lives in soil
Anaerobic environment
Toxin = phospholipase that attacks cell membranes
Myonecrosis - GAS GANGRENE
Late-onset food poisoning: Transient watery diarrhea
Polyarthritis
Gonorrhea
Rheumatic fever
Strep pyogenes (group A)
Meningitis
M. tuberculosis
Acanthamoeba
Cryptococcus neoformans
Strep penumoniae
Lobar consolidation on CXRay
Klebsiella pneumoniae
Alcoholic coughing up “currant jelly sputum”
L. pneumophilia
Needs L-cysteine-supplemented agar
Coxiella burnetii
Q fever
Mild pneumonia symptoms
Contaminated animal hides
Pneumocystis jiroveci
Fungus in HIV+ patients
Ground glass infiltrates on CXRay
Herpes simplex 2
Multinucleated giant cells
Pinkish-purple intranuclear inclusions (Cowdry type A bodies)
Treat w/ Acyclovir, Valacyclovir, Famciclovir
Treponema pallidum
Gram - spirochete
Chancre that heals without treatment within few weeks
Haemophilus ducreyi
Tender, red papule on external genitals - PAINFUL!
Chlamydia trachomatis
Lymphogranuloma venerum (LGV)
PainLESS ulcers –> painful inguinal lymphdenopathy & ulceration (later progression)
Actinomyces israelii
Cervicofacial actinomycosis following dental procedure (oral trauma)
Slow growing/firm feeling abscess in face/neck region
Forms “sulfur granules”
Penicillin + surgical debridement
Rocky Mountain Spotted Fever
Palmoplantar erythematous macules - petechial eruption
Headache, fever, conjunctival hyperemia
Doxycycline
Cutaneous anthrax
Local edema + papule at inoculation site
Painless necrotic wound + black eschar
Ciprofloxacin
Pasteurella multocida
Oral flora of cats + dogs (humans get infected w/ cat bite)
Strep penumoniae (virulence factors)
MAJOR: polysaccharide capsule that INHIBITS phagocytosis by macrophages + PMN leukocytes
“Quellung reaction” - antibodies to capsule causes capsules to swell –> destruction of capsules renders S. pneumonia NONvirulent
Additional factors: pneumolysin - suppresses phagocyte’s oxidative burst; adhesin
Alpha-hemolytic (incomplete “green” hemolysis on blood agar)
Aspergillus fumigatus
Mucormycosis - diabetes mellitus + diabetic ketoacidosis
Immunocompromised (opportunistic infection)
Herpes simplex 1 (HSV-1)
CHILDREN - 1 to 3 yrs
Gigivostomatitis (swollen gums, ulcerative lesions)
Lymphadenopathy
Intranuclear inclusions
Enveloped DS DNA virus
Measles also infect this age group and lesions also have intranuclear inclusions but have BLUISH-GRAY KOPLIKE spots on buccal mucosa
IntraAbdominal abscess
B. fragilis
E. coli
—-
S. aureus - abscess on skin
Actinomyces - abscess in cervicofacial region/abdominal cavity
Candida albicans - perforation of proximal bowel (peptic ulcer)
E. histolytica - amebic liver abscess
Borrelia burgdorferi
Lyme disease - Ixodes tick
Red macules that are ring-shaped w/ CENTRAL clearing - ERYTHEMA CHRONICUM MIGRANS
Treponema pallidum
Condyloma lata - generalized macular eruption
Leptospira interrogans
Weil’s syndrome: hepatic dysfunction –> conjugated hyperbilirubinemia, renal dysfunction, thrombocytopenia, bleeding
Bartonella henselae
Cat scratch fever
Lymphadenopathy, malaise, fever
Antibiotic resistance
Penicillin binding protein (PBP) - MRSA
Resistance including penicilinase-stable penicillins (oxacillin, nafcillin, methicillin)
Mutation in RNA polymerase - Rifampin resistance
Decrease in levels of drug accumulation (decreased uptake/increased efflux) = Tetracycline + Sulfonamides
Mutation in DNA gyrase = quinolone resistance
Clostridium botulinum
Spore forming ANAEROBIC bacillus
Botulinum toxin prevents presynaptic release of Acetylcholine (Ach) –> muscular relaxation
Toxin used as therapy to treat focal dystonias, achalasia (lower esophageal sphincter), and muscle spasms
Hypervariable pili
Neisseria meningitidis
N. gonorrhoeae
Staph aureus
IgG binding outer membrane protein (protein A)
Protein A binds Fc portions of IgG –> prevents opsonization, phagocytosis, complement fixation
Corynebacterium diphtheriae
Intracellular polyphosphate granules
Respiratory tract infections (CHILDREN)
- Nasopharyngitis (Rhinovirus, Influenza, Coronavirus)
Congestion, discharge, sneezing, sore throat - Laryngotracheitis/Croup (Parainfluenza)
Barking cough, stridor - Diphtheria (Corynebacteriu diphtheriae)
Pseudomembrane - Epiglottitis (H. influenzae)
Dysphagia, drooling - Bronchiolitis (RSV)
Wheezing
Togavirus
German measles (Rubella)
Eastern & Western equine encephalitis
Parvovirus
Aplastic crises in sickle cell anemia
Erythema infectiosum (5th disease)
Huydrops fetalis
Calicivirus (Norwalk virus)
Viral gastroenteritis
Parainfluenza virus
Brassy, BARKING cough (CROUP)
Viral laryngotracheitis
Paramyxoviridae
Toxoplasma gondii
Obligate intracellular
HIV patients
Encephalitis - multiplenecrotizing brain lesions
Ring-enhancing lesions in both hemispheres
Pyrimethamine & sulfadiazine
HIV - gag, pol, env
gag = nucleocapside proteins p24 and p7
pol = reverse transcriptase
env = envelope and gp120 and gp41
CMV vs EBV
EBV = mononucleosis
Symptoms: fever, malaise, myalgia, atypical lymphocytosis, elevated liver transaminases, heterophil antibodies (causes RBC to agglutinate)
CMV = similar symptoms to EBV except…
Don’t see heterophil antibodies
CMV in immunocompromised:
Severe retinitis, pneumonia, esophagitis, colitis, and/or hepatitis.
Parvovirus
Erythema infectiosum (fifth disease) in children
Bright red rash on cheeks 5-7 days after fever
In adults: arthritis resembing rheumatoid arthritis – but it resolves spontaneously
Rheumatic fever
migratory pain/swelling in large joints
fever, carditis, choreaform movements, erythema marginatum
occurs a few weeks after STREP pharyngitis
SLE
Malaise, weight loss
MALAR facial rash
arthralgias in young women
Anthrax
Widened mediastinum (hemorrhagic mediastinitis)
Wool-sorting business
Gram + rods
Antiphagocytic D-glutamate capsule
Serpentine/medusa head on appearance
Intracellular polyphosphate granules
Loeffler medium stain w/ methylene blue
Corynebacterium diphtheriae
Pertrichous flagella
Proteus mirabilis
Cat Scratch disease
Bartonella henselae
Focal lymphadenopathy
Bacillary angiomatosis in immunocompromise pts. (red-purple papular skin lesions)
Hemolytic Uremic Syndrome (HUS)
E. coli O157:H7
Microangiopathic hemolytic anemia
Thrombocytopenia
Renal insufficiency
Reiter’s syndrome
HLA-B27 positive reactive arthritis
Urethritis
Conjunctivitis
Chlamydia, Salmonella, Shigella, Yersinia, Campylobacter infections
Condylomata acuminata
Genital warts
HPV 6 + 11
Xeroderma pigmentosum
Pigmented dry skin
Lack of DNA excision repair - can’t repair DNA in skin following UV damage
Erythema, scaling, hyperpigmnetation, lentigo (pigmented papules)
Related: Fanconi anemia, Bloom syndrome (hypersensitivity to UV damage and chemo agents)
Granulomatous diseases (10)
- Mycobacterium tuberculosis
- Histoplasmosis, Coccidiodomycosis
- Treponema pallidum (syphilis)
- M. leprae (leprosy)
- Bartonella henselae (Cat scratch disease)
- Sarcoidosis
- Crohn’s disease
- Granulomatosis with polyangiitis (Wegener’s)
- Churg-Strauss syndrome
- Berylliosis, silicosis
Granulomatous disease mechanism
TH1 cells –> gamma-interferon secretion –> activates macrophages –> produces TNF-alpha –> granuloma formation
Anti-TNF drugs cause sequestering granulomas to break down –> disseminated disease
Tuberous Sclerosis
Facial angiofibroma
Seizures
Mental retardation
Tuberous Sclerosis (associated neoplasms)
Giant cell astrocytoma
Renal angiomyolipoma
Cardiac rhabdomyoma
Small cell lung carcinoma
Paraneoplastic syndrome
Cushing’s (ACTH), ADH (SIADH), Anti-Ca2+ channels (Lambert-Eaton)
PKU
Mental retardation
Hypopigmentation (skin, eyes, basal ganglia – substantia nigra, locus ceruleus, vagal nucleus dorsalis)
“Mousy” or musty odor
Phenylalanine cannot be converted to tyrosine; lack of phenylalanine hydroxylase or cofactor tetrahydrobiopterin (BH4)
Accumulation of phenylalanine in brain
Mental retardation
Seizures
Disease seen in PKU (fair skinned, blonde hair, blue eyes, musty odor pt.)
Chvostek’s sign
Facial muscle contraction elicited by tapping on facial nerve (anterior to ear) – occurs when Ca2+ levels LOW (less than 7.0mg/dL)
Primary hypoparathyroidism = loss of parathyroid tissue during thyroidectomy
Polycystic ovarian syndrome
PERSISTENTLY elevated estrogen, androgen, LH levels
Hyperandrogenism, Anovulation, Oligomenorrhea, multple ovarian cysts
Theca cell hyperplasia –> excess androgens (acne, hirsutism, male pattern balding, virilization)
Obesity, insulin resistance, dyslipidemia –> increase risk of diabetes and cardiovascular disease
Excess estrogen - thickened endometrium - increase risk of developing endometrial hyperplasia & carcinoma
Treatment w/ weight loss & oral contraceptives
Addison’s disease
Primary defect in adrenal coritosl – NO feedback inhibition of anterior pituitary pro-opiomelanocortin (POMC)
POMC continues to make ACTH and MSH (melanocyte stimulating hormone) –> hyperpigmentation
TRH (thyroid releasing hormone) defect
Lack of TSH and prolactin
Lechithinase (alpha toxin)
C. perfringens
destroys lecithin (cell phospholipid membrane)
destruction of cells –> necrosis/hemolysis, cell death
Gestational diabetes mellitus
HUMAN PLACENTAL LACTOGEN
Similar to GH and prolactin - causes INCREASE in insulin resistance to increase serum glucose; increase serum glucose shunted to developing fetus for increasing energy requirements
Fracture of midshaft of humerus
Radial nerve + deep brachial artery damage
Loss of extensors in forearm and at wrist
Fracture to surgical neck of humerus
Axillary nerve + Anterior circumflex humeral a.
Fracture to supracondylar humerus
Brachial artery
Primary adrenal insufficiency vs. Secondary/Tertiary (pituitary/hypothalamus)
Primary - hyponatremia, hyperkalemia, hypochloremia, metabolic acidosis
Secondary/Tertiary - do NOT have hyperkalemia or metabolic acidosis; WILL respond with serum cortisol production when exogenous ACTH is administered
Hyponatremia, hypokalemia, hypochloremia w/ metabolic alkalosis
Diuretic use (contraction alkalosis – increased bicarb absorption)
Positive Trendelenburg
Superior gluteal n. = weakness in gluteus medius and minimus; walk w/ waddling gait/characteristic limp
Difficulty rising from seated position
Difficulty climbing stairs
Inferior gluteal nerve (gluteus maximus)
Lambert-Eaton myasthenic syndrome and myasthenia gravis also have proximal muscle weakness
Deficit in thigh adduction
Obturator nerve
Loss of knee reflex (extension of leg at knee)
Loss of anterior thigh sensation
Femoral n.
Knee flexors (hamstrings)
Sciatic n.
21-hydroxylase deficiency
MOST COMMON congenital adrenal hyperplasia
Can’t make aldosterone or cortisol (get buildup of 11-deoxycorticosterone and 11-deoxycortisol)
ACTH is elevated bc there’s not feedback inhibition from cortisol (cortisol isn’t being made)
Test for 17-OH progesterone (buildup of precursor products)
Accumulating aldosterone and cortisol precursors shunted to androgen pathway –> females have AMBIGUOUS genitalia (VIRILIZATION)
Males have normal genitalia - have symptoms later w/ SALT-WASTING or precocious puberty
Desmolase
Conversion of cholesterol to pregnenolone (absence of this enzyme results in complete absense of steroid hormones) = INCOMPATIBLE w/ life
17-hydroxylase deficiency
Can’t make androgens - everything diverted to make mineralcorticoids (aldosterone)
Salt retention –> HTN
ALL phenotypically “FEMALE” due to impaired androgen synthesis
Deficiency of DHT (in utero)
Androgen insensitivity syndrome
PTH
Increase osteoclastic bone resorption
Increase DISTAL tubular absorption of calcium
Increase formation of 1,25-dihydroxy vitamin D (via upregulation of 1-alpha hydroxylase)
1,25-dihydroxy vitamin D increases GI absorption of Ca2+
SECONDARY hyperparathyroidism:
Patients w/ RENAL FAILURE – DECREASED formation of 1,25-dihydroxy vitamin D –> decreased absorption of Ca2+
RENAL FAILURE - elevated phosphorous (can’t be excreted) –> increase PTH hormone “secondary hyperparathyroidism” bc PTH is antagonistic to phosphorous (will cause elimination of phosphorous)
PTH-independent hypercalcemia
Humoral hypercalcemia of malignancy
Vitamin D toxicity
Excessive ingestion of Ca2+
Thyrotoxicosis
Immobilization (Ca2+ is resorbed from inactive bones)
Adrenal crisis
“Shock-like state”
Hypotensive, tachycardic, hypoglycemic
Adrenal insufficency (vomiting, abdominal pain, weight loss, hyperpigmentation due to MSH overstimulation)
Patients w/ adrenal insufficiency - can’t make glucocorticoids essential for cardiovascular + metabolic adaptations during stressful situations
Inactive FSH receptors
Lack of spermatogenesis and inhibin B production
LH release testosterone from Leydig cells (testosterone feeds back to inhibit LH)
FSH releases inhibin B from Sertoli cells (inhibin feeds back to inhibit FSH)
FSH does NOT make testosterone but is responsible for ANDROGEN-BINDING protein which binds testosterone and elevates local testosterone that is necessary for spermatogenesis
Lambert-Eaton myasthenic syndrome (LEMS)
1/2 patients have associated malignancy: SMALL CELL lung cancer
Similar symptoms to myasthenia gravis: diplopia, ptosis, dysarthria, dysphagia
Differences:
LEMS - hyporeflexia/areflexia, autonomic symtpoms, classic incremental response to repetitive stimulation
Myasthenia gravis
Thymoma & thymic hyperplasia (appears as ANTERIOR mediastinal mass)
Autoimmune condition - weakness of facial, periocular, bulbar, and pelvic girdle muscles
Ascending muscle weakness (demyelination) - T lymphocyte and macrophage infiltration
Campylobacter infection
Polymyositis
Idiopathic inflammatory myopathy
Bilateral proximal weakness
Elevated creatine kinase (CK)
Polymyalgia rheumatica (PMR)
Sudden onset stiffness, pain, tenderness of musculature (shoulders, hips, neck, torso)
Elevated ESR
ALS
UMN involvement (hyperreflexia, spasticity) coupled w/ LMN involvement (atrophy, fasiculations)
Multiple sclerosis
Autoimmune: 20-30yr old females
Increased IgG in CSF
Demyelinating lesions in brain/spinal cord
Optic neuritis: sudden loss of vision w/ painful eye movements
Cerebellar damage: intention tremor
Guillan-Barre
Acute postinfectious polyneuropathy
Nonspecific prodromal malaise/nausea FOLLOWED by progressive ascending paralysis
Bitemporal hemianopsia (endocrine effect)
Pituitary tumor - PROLACTINOMA
Prolactin inhibits entire GnRH-LH/FSH axis
Impotence in men/Amenorrhea in women (hypogonadtropic amenorrhea)
Men = decreased GnRH, decreased FSH, decreased LH, decreased testosterone
Dopamine inhibits prolactin via D2 dopamine receptor on lactotrophs (damage to hypothalamus –> hyperprolactinemia)
Sheehan syndrome
Postpartum hemorrhage (hypotension) –> ischemic necrosis to pituitary (that enlarged and became more vascular during pregnancy)
Panhypopituitarism:
Woman can’t lactate - prolactin deficiency
Hypothyroidism = excessive weight loss and malaise
Hypocortisolism
Autoimmune hypophysitis (inflammation of pituitary)
Acute presentation: headaches, visual field deficits
Also low cortisol
Occurs late pregnancy or early postpartum
Pituitary apoplexy
Hemorrhage in preexisting pituitary adenoma - emergency!!
Acute, severe headache, ophthalmoplegia, altered sensorium
Vascular deposition of circulating immune complexes
SLE, Rheumatoid arthritis, connective tissue
Type I hypersensitivity
IgE mediated
IgE produced by B lymphocytes + plasma cells
Specific for allergens (IgE) – crosslinking of IgE molecules on surface of basophils and mast cells –> degranulation of HISTAMINE
SIADH
Hyponatremia + lung mass (small cell carcinoma of lung**)
SIADH –> excessive water reabsorption –> HYPERVOLEMIA renin/angiotensin stimulates natriuretic peptides –> excrete Na+ in urine (hyponatremia)
Patients have normal body fluid volume but LOW plasma osmolality (euvolemic hyponatremia)
Low plasma sodium & osmolality, inappropriately concentrated urine (even though there’s no Na+ around to cause concentration of urine), increased urinary sodium, and normal body fluid volume
Estrogen effect on T4
Estrogen increases amount of TBG (thyroid binding globulin) –> increase level of total T4 and T3
Free thyroid hormones = stay SAME so patients are euthyroid w/ normal TSH
Increases in circulating T4 seen in pregnancy, oral contraceptives, hormone replacement therapy
Psoriasis
Hyperparakeratosis, acanthosis, rete ridge elongation
Mitotic activity above basal cell layer
Reduced/absent stratum granulosum
Dermatitis herpetiformis
Pruritic vesicles/plaques on extensor surfaces
Gluten enteropathy
Erythema nodosum
Painful, reddish nodules on shins
Oral contraceptives, Strep pharyngitis, IBS, Sarcoidosis
Fracture of femoral head & neck
Medial femoral circumflex artery damage –> avascular necrosis of femoral head
Recurrent nosebleeds, swollen gums, ecchymoses, hyperkeratosis, ulcer on lower extremity
Vitamin C deficiency (scurvy) = decreased connective tissue strength
Vitamin C needed to hydroxylate proline + lysine via prolyl and lysyl hydroxylases
PID
Chlamydia/gonorrhea
PID –> ectopic pregnancy
Increase changes of ectopic pregnancy due to previous abortions, exposure to DES
Yeast infection risk factors
Antibiotic use recently
Diabetes
Kid w/ SORE THROAT + rash
Strep infection causing scarlet fever
PYROGENIC toxin
—
Endotoxin: Gram - sepsis
M protein: Rheumatic fever*
Alpha toxin: C. perfrigens
Crohn’s disease in relation to bladder
Causes fistula w/ bladder
Umbilicated, flesh-colored papules in kid (red dot in middle of cell)
Molluscum contagiosum
Pox virus
Otitis externa (tenderness when tugging on outside of ear)
Pseudomonas - “blue green” - wet
Associated w/ water (hot tubs, burns)
CSF pathway through ventricles
Lateral –> 3rd ventricle via FORAMINA OF MONRO
3rd –> 4th ventricle via CEREBRAL AQUEDUCT (of Sylvius)
4th ventricle –> subarachnoid space via FORMINA of LUSCHKA (lateral)/MAGENDIE (medial)
CSF return to venous circulation via ARACHNOID VILLI (granulations)
Types of hydrocephalus
Communicating - blockage in subarachnoid space (fibrosis); no blockage in brainstem
Normal pressure - CSF NOT absorbed
Hydrocephalus ex vacuo - increase CSF VOLUME
Pseudotumor cerebri: overweight young females - decreased CSF outflow at arachnoid villi
Coarctation of aorta
Turner syndrome, bicuspid aortic valves
BP elevated proximal to coarctation, BP decrease distal to coarctation
Duodenal atresia
Down syndrome
Bilious vomiting without abdominal distention - 1st day of life! (duodenal lumen fails to recanalize)
Polyhydramnios
Renal agenesis in utero
Potter syndrome
Oligohydramnios/facial dysmorphism
Pulmonary hypoplasia
Ebstein’s anomaly
ATRIALIZED right ventricle (downward displacement of tricuspid valve)
maternal exposure to LITHIUM*
Failure of neural tube fusion
a-fetoprotein (AFP) + acetylcholinesterase levels ELEVATED
ANTERIOR neuropore:
- encephalocele (herniation of brain tissue through cranial defect)
- anencephaly (absence of brain/calvarium)
POSTERIOR neuropore (more common):
- spina bifida occulta
- meningocele
- meningomyelocele
Vertical vs. Horizontal diplopia
Vertical diplopia (walking downstairs): CN IV (trochlear)
Horizontal diplopia: CN VI (abducens) – also have esotropia (inward deviation of eye)
Lesion of medial longitudinal fasciculus (MLF)
Internuclear ophthalmoplegia
Impaired horizontal eye movement; weak ADDUCTION of affected eye w/ simultaneous nystagmus of CONTRA eye (trying to compensate)
Progressively weakening diaphragmatic contractions on inspiration
Neuromuscular junction pathology - MYASTHENIA GRAVIS
Rapid diaphragmatic muscle fatigue - restrictive lung/chest wall disease
Guillain-Barre
Acute demyelinating disease (following infection, immunization, allergic reaction)
Antibodies to some infectious agent that contain gaglioside-like substance cross-react w/ ganglioside components of MYELIN –> SEGMENTAL DEMYELINATION & ENDONEURAL INFLAMMATORY INFILTRATE
Ascending muscle weakness (following respiratory or GI infection)
Campylobacter jejuni
Absence of deep tendon reflexes (DTRs)
Paralysis of respiratory muscles - fatal!
CNVII - Bell’s palsy (if cranial nerves affected)
Werdnig-Hoffman
LMN
“floppy child” syndrome
Lambert-Eaton
Resembles myasthenia gravis
Associated w/ small cell lung carcinoma
Autoantibodies w/ presynaptic Ca2+ channels – no release of Ach
Differentiate Myasthenia gravis & Lambert-Eaton
Both weakness of proximal muscles
MG:
Ptosis, Diplopia
Thymoma risk
Antibodies against ACh receptors
Nerve stimulation studies - DECREASE response
Weakness of muscles WORSE w/ exertion
L-E:
Pre-existing malignancy
Antibodies against pre-synaptic Ca2+ channels
Nerve stimulation studies - INCREASE response
Weakness of muscles BETTER w/ exertion and exercise (better at the end of the day)
Subacute combined myelopathy
Vitamin B12 deficiency
DORSAL COLUMNS + LATERAL CEREBROSPINAL tracts affected
loss of position/vibration sensation, spastic paresis, ataxia
Primary CNS tumor in AIDS patients
CNS lymphoma (diffuse large B-cell lymphoma) - CD20 + CD79a
EBV related - poor diagnosis
Meningiomas
Adjacent to brain surface + attached to dura mater
Craniopharyngiomas
Suprasellar region - can be CALCIFIED
Endocrinopathies (hypopituitarism)
Intracranial schwannomas
Cerebellopontine angle
CN VIII compression symptoms (hearing loss, tinnitus, loss of balance)
Fragile X syndrome
mild, severe mental retardation (second most common cause of mental retardation; #1 is Down Syndrome)
long thin face, prominent forehead + jaw
macroorchidism (large testes!)
FMR-1 gene (familial mental retardation gene-1)
CGG trinucleotide repeat
hypermethylation of CYTOSINE bases – gene inactivated
DNA mismatch repair gene DEFECT
Lynch syndrome
increased risk of hereditary non-polyposis colorectal cancer (HNPCC)
Chromosomal instability disorders
- Xeroderma pigmentosum
- Ataxia-telangiectasia
- Fanconi’s anemia
- Bloom syndrome
Fulminant meningococcemia
Waterhouse-Friderichsen syndrome
bilateral adrenal hemorrhage –> adrenal insufficiency –> hypotension –> death
DIC, shock
N. meningitidis
pharynx –> blood –> choroid plexus –> meninges
Route of infection for:
H. influenzae
S. pneumoniae
S. aureus
M. tuberculosis
- H. influenzae: pharynx –> lymphatics –> meninges (infants/children)
- S. pneumoniae: middle ear –> contiguous tissues –> meninges
- S. aureus: skull trauma –> leaking CSF –> meninges (get abscess)
- M. tuberculosis: lung focus –> blood –> meninges
Rabies encephalitis
Restlessness, agitation, dysphagia –> progressing coma –> death
Vaccine: KILLED rhabdovirus strains
Rabies virus = -ssRNA
PKU
Lack of phenylalanine hydroxylase
Inability to convert phenylalanine to tyrosine
TYROSINE becomes an essential aa
excess phenylalanine inhibits tyrosinase (synthesis of melanin from tyrosine) –> fair skinned people
Lead poisoning (enzymes affected)
- d-Aminolevulinate dehydratase
- Ferrochelatase
d-ALA (d-aminonlevulinic acid) and protophorphyrin IX accumulates
d-Aminolevulinate synthase (rate limiting reaction in HEME BIOSYNTHESIS)
Deficiency in uroporphyrinogen I synthase
Acute intermittent porphyria
Abdominal pain + neuropsychiatric symptoms
Deficiency in uroporphyriongen decarboxylase
Most common porphyria: Porphyria cutanea tarda (PCT)
Uroporphyrinogen accumulates in urine; mild photosensitivity
Bilirubin glucuronyl transferase
Conjugation of bilirubin
Niemann-Pick
deficiency of sphingomyelinase –> sphingomyelin accumulates in phagocytes –> “foamy histiocytes”
loss of previously acquired motor capabilities
cherry-red macular spot (similar to Tay Sachs)
hepatosplenomegaly
Tay Sachs
deficiency in hexosaminidase A –> GM2 ganglioside accumulation
Hurler syndrome
deficient in alpha-L-iduronidase
accumulation of heparan sulfate + dermatan sulfate
Gaucher disease
deficient in glucocerebrosidase
accumulation of glucocerebroside in phagocytes
Von Gierke disease
deficiency in glucose-6-phosphatase
Pompe disease
deficiency in lysosomal alpha-1,4-glucosidase
Fabry disease
deficiency in alpha-galactosidase A –> accumulation of ceramide trihexoside
Progression to RENAL failure
Angiokeratomas
Hypohidrosis
Acroparesthesia (burning neuropathic pain in extremities)
Lesch-Nyhan syndrome
deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT)
disorder in uric acid metabolism
Spasticity
Choreoathetoid movements (involuntary movement spasms + writhing movements)
SELF MUTILATION
Neuroblastoma
located in adrenal medulla
non-rhythmic conjugate eye movements w/ myoclonus
increased N-myc gene copies
retroperitoneal mass
Hypothalamic nuclei (functions)
- Ventromedial - satiety (leptin stimulated)
- Ventrolateral - hunger
- Anterior - cooling
- Posterior - heating
- Arcuate - dopamine secretion (inhibits prolactin); GHRH and gonadotropin release
- Paraventricular - ADH and oxytocin releasing, CRH, TRH
- Supraoptic - secretion of ADH and oxytocin
- Suprachiasmatic - circadian rhythm, pineal gland function
CN IV lesion
internal rotation, depression, abduction
lesion – vertical & torsional diplopia, eye deviates upwards
CN VI lesion
abduction
lesion – horizontal diplopia, eye deviates medially
Hydrocephalus in infants
Increased head circumference, enlarged ventricles
Muscle hyperreflexia and hypertonicity due to UMN damage due to stretching of periventricular pyramidal tracts
Chronic granulomatous disease (CGD)
X-linked
inability of phagocytes to synthesize NADPH oxidase - can’t have lysosomal oxidative burst
pts. suffer recurrent infections from catalase-positive organisms: staphylococci
Alzheimer disease
Decreased acetylcholine level (lack of choline acetyltransferase)
areas affected:
basal nucleus of Meynert - memory/cognition
Hippocampus - formation of new memories
Locus ceruleus
Panic attacks, panic disorders
Caudal pontine central gray matter - contain NE
Nucleus caudatus (atrophy)
Huntington’s
NMDA receptors depleted in striatum
Raphe nuclei
Serotonergic
Anorexia, depression, sleep disorders
Global cerebral ischemia
due to cardiac arrest –> cessation of blood flow –> severe hypoperfusion
Ischemia >5mins causes irreversible damage to neurons
Watershed areas of anterior, middle, and posterior cerebral aa.
Bilateral wedge-shaped bands of necrosis over cerebral convexities, lateral to interhemispheric fissure
Irreversible injury in neuron
“red neuron”
12-24 hours after injurious event
shrinkage of cell body
eosinophilia of cytoplasm
pyknosis of nucleus
loss of Nissl substance
Syringomyelia
Cyst in spinal cord
- lateral spinothalamic tract (bilateral loss of P&T)
- motor neurons of anterior horns: LMN (flaccid paralysis, atrophy of intrinsic muscles)
Lateral corticospinal tract lesion vs. Anterior horn involvement (spinal cord)
Lateral corticospinal tract: UMN lesion
Anterior horn: LMN
ALS (amylotrophic lateral sclerosis) has BOTH!
Anterior spinal artery syndrome
Compression/occlusion of artery
COMPLETE loss of strength below level of injury
Loss of pain & temperature
STILL has vibratory senses
Increased AFP
Neural tube defects
Down’s syndrome
Decreased AFP
Excessive skin at posterior neck
VSD and duodenal atresia
endocardial cushion defect
TE fistula
Slanted palpebral fissues,
Single transverse palmar crease
Flat facies
Edwards syndrome vs. Patau syndrome
Edwards - 18- prominent occiput, microagnathia (small jaw), low set ears, small mouth, overlapping fingers-clenched hands, severe mental retardation (usually die by 1yr)
Patau - 13 - ENTIRE HEAD affected (microcephaly - small head!), polydactyly, umbilical hernia, holoprosencephaly (forebrain doesn’t divide into 2 hemispheres), cleft lip – occurs secondary to nondisjunction during meiosis I
“Common cold”
Coronavirus, rhinovirus, adenovirus
Achondroplasia
Fibroblast growth factor receptor 3 (FGF-3)
Autosomal dominant
Spontaneous mutations w/ advanced paternal age
Shortened limbs, normal face and normal torso
1/3 chance normal baby from 2 affected parents (2/3 chance baby has symptoms)
Aseptic meningitis
Enteroviruses - coxsackievirus, echovirus, poliovirus, enterovirus