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195 Cards in this Set

  • Front
  • Back
Genetic Disease
pathological condition caused by an absent or defective gene or by a chromosomal aberration
Congenital Disease
disease present at birth
Familial Disease
disease transmitted in gametes through generations
Hereditary Disease
Disease derived from parents
Autosomal Dominant
-seen in heterozygous state
-seen and is transmitted in males and females equally
-enzyme proteins NOT affected
-ex: Marfans/Hunington's
Autosomal Recessive
-largest group
-both alleles are mutated
-males and females affected equally
-INVOLVES enzyme proteins
-ex: sickle cell anemia, Cystic Fibrosis
X linked
transmitted by heterozygous female to their sons
Marfans Syndrome
-autosomal dominant of connective tissue affecting fibrillin
-mutations found in FBN1
-skeleton-long legs and ams, kyphoscoliosis, hyperextensible joints
-cardiovascular-aneurysms, aortic dissection/incompetente,cardiac failure
Ethler Danlos Syndrome (EDS)
-defects in collegen synthesis
-deficiency in (lysyl hydroxylase) enzyme
-symptoms-strechabe and fragile skin, vulnerable to trauma
Familial Hypercholesterolemia
-most common medelian disorder
-causes by mutations in the LDL receptor genes
-heterozygous-symptomless until adulthood, elevated serum cholesterol
-homozygous-greater risk, die at 15 do to MI
Phenylketonuria
-due to inability to convert phenylaline to tyosine
-features-MR, seizures,hypo pigmentation of skin and hair
-avoid-phenylalanine in diet
Galactosemia
-inability to convert galactose to glucose due to lack of transferase enzyme
-features-
-infancy-heptosplenomegally,aminoaciduria,ecoli sepsis,jaundice,vomiting,diarrhea
-children-cataract,speech/neurological deficits,ovarian failure
-prevention- avoidance of galactose during first 2 years
mucopolysaccharidoses
-accumulation in liver,spleen,heart,brain
-features-course face,corneal clouding,joint stiffness
glycogen storage diseases
-inherited deficiency of any one of the enzymes involved in glycogen synthesis or degradation
hepatic type/Von Gierke disease
-most important
-due to glucose-6-phospahte deficiancy
-results in hepatomegaly
myopathic type
-muscle weakness
-cramps
-myoglobinuria
type II glycogenisis
-Pompe disease
-deposition of glycogen in all organs
-cardiomegaly prominent
Cytogenetic disorders
-1/200 are corn with some type of chromosomal abnormality
-results from alterations of number or structure
-affects sex or autosomal chromosomes
types of cytogenetic disorders
-euploid-exact multiple of haploid
-polypoid-increasing multiples, greater than 2
-aneuploid-not an exact multiple of (n)
-gametes-have extra chromosome
-barr bodies- (1 inactive sex chromosome) female 1 males 0 XXX 2
trisomy 21/ downs syndrom
-increases with maternal age
-translocation(familial form)
-MR, large forhead, wide eyes, epithelial fold,curvature of 5th finger, singular palm crease
-complications-CHD, leukemia,brain similar to alzheimers,
Cri du chat (le Jeune's)
-deletion of short arm (p) on chromosome 5
-MR, micrcephaly, catlike cry
Patau Syndrome (trisomy 13)
-MR,microcephaly,micropthalmia, cleft lip and palate,polydactyle,rocker bottom feet,umbilical hernia
edwards syndrome
-nondisjunction in trisomy 18
-MR,microganthis,rocker bottom feet, flexion deformities, congenital heart disease
Klinefelters syndrome
-male hypogandism with 2x or 1 or more Ys
-single barr body
-atrophic testes, tall stature, low testosterone
Turners syndrome
-hypogonadism is females
-primary cause of amenorrhea(no period)
-no barr body
-not complicated with MR
-overies replaced by fiberous streaks
-decreased estrogen
-short stature, webbed neck, shield chest with widely spaced nipples
sudden infant death syndrome
-death under 1 year with unexplained cause
-occurs in sleep due to soft bedding or sleep position
-pitechiae in thymus,pleura and epicardium
cystic fibrousis
-most common lethal disease in caucasions
-mutation in CFTR gene on chromosome 7 (facilitates movement of chloride across membrane)
-increased viscosity of mucous and increased sodium and chloride in tears and sweat
-clinical manifestation-chronic pulmonary disease, pancreatic insufficiency,liver involvment in males (absence of vas deferens)
-symptoms- malabsorption,large foul stool, chronic cough
thalidomine baby
-deformation
-pill given to pregnant women for morning sickness
TORCH
-toxoplasm
-Rubella
-CMV (virus)
-Herpes
-Other
Respiritory distress syndrome
-occurs in infants reterm
-factors-diabetic mother,cesarian before onset of labor
-inability to synthesize enough surficant by immature lung
-TX-corticosteroids,surficant therapy
hemangiomas
-common benign tumor on skin (port wine stains)
Sacrococcygeal teratomas
-benign but 12% turn malignant
Neuroblastoma
-malignant tumors of the sympathetic ganglia and adrenal medulla
-present with weight loss, fever,preturbeant abdomen
-can metastasize
-(bluberry muffin baby)
-use VMA and HMA for screening
Retinoblastoma
-common malignant eye tumor
-spontaneous regresstion
-increased risk of osteosarcoma
-whitish blue pupils (cats eye reflex)
Wilm's Tumor
-neuphroblastoma (kidney tumor) occurring in children between 2-5
-WAGR syndrome
-problem in chromosome 15
-aniridia (without iris), MR, genital abnormalities
Arterioscleriosis
-general term for thinking and rigidity of vessels
-3 types
arteriolosclerosis, Monochkeberg medical calcific sclerosis, Atherosclerosis
Arteriolosclerosis
-hyaline thickening to proliferative changes of small arteries or arterioles
-onion skin appearance
-(hardening of arterial walls)
Monchkeburg medical calcific Sclerosis
-medium sized arteries (usually radial and ulnar arteries)
-affects those over 50
-characterized by ring like calcifications in the media
-does not obstruct arterial blood flow
-results in calcific stiff "pipe stem" arteries
Artherosclerosis
-most frequent cause of significant morbidity
-charcaterized by fibrous plaques or artheromas within intima
-plaques have central core of cholesterol, calcium, foam cells,necrotic debris
-core is covered by fibrous cap
-plaques may be complicated by calcification, hemorrhage, ulceration
-consequences- ischemic heart disease, MI, stroke, ischemic bowl disease
-weakening of vessel wall may cause aneurysm formation
Hypertensive vascular disease
-sustained elevation of pressure
-2 categories (essential, secondary)
essential hypersension
-unknown etiology
-complications- retinal changes, left ventricle hypertrophy, cardiac failure, benign nephrosclerosis, predispose to ischemic heart disease or stroke
secondary hypertension
-known causes include renal disease (most common),acromegaly,hyperthyroidism
malignant hypertension
-can be a complication of primary or secondary hypertension
-increased diastolic blood pressure.
-in young black males
-"flea bitten kidney"
-Criteria-sustained diastolic pressure above 90 sustained systolic pressure above 140
Aneurysms
-localized abnormal dilations
-2 types-
*true- all layers of vessel wall involved
*false-breach in vessel wall leading to pulsating hematoma
-causes-atherosclerosis, medial degradation, trauma,syphilitic aneurysm
Elaborate AAA
-occurs in men over 50
-familial predisposition
-artherosclerosis, can lead to rupture, obstruction in branches, embolism
Aortic dissections
-occurs in hypertensive men between 40-60
-splitting of media layer
-2 types-
*proximal (type a)-ascending or descending aorta
-distal(type b)- beginning distal to subclavian artery
-symptoms- sudden pain, anteriorly radiating to back b/t scapulae
Thromboanginitis Obliterans
-imflammation of medium and small arteries
-occurs in smokers before 35
-early manifestation-cold sensitivity later becomes severe "black hands and feet", pain even at rest
-common in isrial, India, Japan
Raynaud Phenomenon
-recurrent vascospasm of small arteries and arterioles resulting in pallor or cyanosis in fingers and toes
Varicose veins
-abnormally dilated and tortuous veins
-most often superficial veins of lower extremities
-predisposed by increased venous pressure which occurs in pregnancy, obesity and prolonged standing
Esophageal varices
-portal hypertension opens shunts increasing blood flow in veins at gastroesophageal junctions
-backs up stomach and food pipe
Hemorrhoids
-dilation of venous plexus at anorectal junction
-causes- straining during dedication, portal hypertension, pregnancy, prolonged sitting
Caput Madusa
-distended engorged periumbilical veins
venous thrombosis
-affects deep veins of lower extremities
-occurs with(thrombophlebitis) or without(phlebothrombosis) inflammation of veins
hemangiooma
-predominantly benign tumor of the blood vessels
Kaposi's Sarcoma
-intermediate(locally aggressive) tumor
Angiosarcoma
-highly malignant
congestive heart failure
-FINAL common pathway of many cardiac dieases
-multi system derangement when heart is no longer to eject blood
*forward failure-inadequete cardiac output (can't go out
*backward failure- increased venous congestion (back up)
Left heart failure
-causes-systemic hypertension, mirtal or aortic valve disease,ischemic heart disease
features- dyspnea when laying down but relieved when sitting up, cardiomegally
Right heart failure
-causes- left side failure, tricuspid or pulmonary valve disease
-heart chambers are dilated and hypertrophied, fluid in pericardial cavities and liver has a nutmeg like appearance
-features- few respiratory symptoms,weight gain, distended neck veins
congenital heart disease
-common cause of childhood heart disease
-chromosomal abnormailites
-patent ductus arterioles should close when born but doesn't
Atrial Septal defect
-division between atrials
-most common-ostium secundum
-initially cause left to right shunt (no getting good blood)
-pulmonary hypertension develops
complications- heart failure, eisenmengers syndrome, paradoxical emboli
Ventricular Septal Defect
-most common congenital heart defects
-direct communication between ventricular chambers
-small VSD asymptomatic and close spontaneously
-large VSD may lead to pulmonary hypertension, several of shunt, right ventricle hypertrophy
Right to Left shunts
-Tetralogy of Fallot- most common congenital heart disease
*4 things
-pulmonary outflow obstruction
-right ventricle hypertrophy
-ventrical septum defects
-overriding aorta
-features-cyanosis, SOB, digital clubbing, polycythemia
preductal coarctation
infantile type
-associated with Turners Syndrom
-narrowing of aorta prior to ductus asteriosis
-poor prognosis without surgery
-infant with CHF, cyanosis in lower extremities and weak pulses
postductal coarctation
adult type
-narrowing to aorta distal to the ductus arteriosis
-child or adult with hypertension on the upper extremities and hypotension and weak pulses in lower
-chest xray- notching of ribs
ischemic heart disease
group of syndromes caused by an imbalance between the myocardium oxygen demand and blood supply
-caused by partial or complete interruption of aerial blood flow to the myocardium
-majority is caused by artherosclerotic narrowing of coronary arteries
angina pectoris
-episodic chest pain, transient cardiac ischemia w/o cell death resulting in substernal chest pain
-3 types-
stable angina, unstable angina, variant/primzental angina
stable angina
-most frequent
-pain caused by exertion and relieved by rest or vasodilators
-severe narrowing of atherosclerotic arteries
unstable angina
-prolonged or recurrent pain at rest, increasing frequency, duration and intensity at rest
-indicative of imminent MI
Varient/prinzmental angina
-caused by coronary artery vasospsm
-intermittent chest pain at rest
-relieved by nitroglycerin
Myocardial Infarction
-localized area or cardiac muscle necrosis die to ischemia
-most common cause of death in the US. 1/3 die
-men affected more until women reach menopause
-disruption of coronary artery thrombosis LAD(45) RCA (35) LSA (15)
*response to ischemia
-between 20-40 cause irreversible damage
-infract reaches flu size in 3-6hrs. coagulative necrosis followed by fibrosis
*clinical presentation- crushing chest pain, elderly may be silent infarcts, pain radiates to left arm, chest heaviness
*diagnosis-
sudden cardiac death
-death within 1 hour
-usually ventricular fibrillation
calcific aortic stenosis
-common valvular abnormality
-age related dystrophic calcification
-common in bicuspid aortic valve (backup in L side)
mital valve prolapse
-young women
-affects 5-10% of population
-associated with marfans syndrome
-enlarged floppy mural valve leaflets that prolapse in atrium
Rheumatic valvular disease
-multisystem inflammatory disorder most often affecting children 5-15
-occures 1-4 weeks after an episode of tonsillitis or streptococci
-licks the joints and bites the heart
-asschoff bodies
infective endocarditis
-imflammation inside heart
-serious infection involving microbial invasion of the valves and the endocardium
-caused by fungi richettsiae, chamydia or any extracellular bacteria
-features-fever chills, systematic emboli, roth spots, osier nodes (painful) janeway lesions (painless)
marantic Endocarditis
-non bacterial thrombotic endocarditis
-small sterile vegitations
-in patients with metastatic cancer
-caused by secretory products of carcinoid tumors (epinephrine)
-right side of heart
Cardiomyopathies
-heart muscle gets big causing blood flow to become small
-diseases of heart muscle that are non inflammatory
-characterized by ventricular dysfunction
congestive/dilated cardiomyopathy
-cardiac enlargement with dilation of all four chambers
hypertrophic cardiomyopathy
-asymmetrical spetal hypertrophy
-common cause of sudden death in young athletes
restrictive cardiomopathy
-uncommon
-caused by disease that produce restriction of cardiac filling during diastole
myxoma
-tumor of primitive connective tissue
-most common primary tumor (in atrium)
anemia
-decrease in whole body red cell mass, hemoglobin or hematocrit
-can be-
microcytic-iron deficiency
-macrocytic-folate or B12 deficiancy
-normocytic-sickle cell, hereditary spherocytosis
hemolytic Anemias
-anemias due to shortening of red cell life span
sickle cell anemia
-hemoglobinopathy-disorders that show structural abnormalities of hemoglobins
-hbA(which is normally 96% is replaced by hbS)
-homozygous all are replaced and lead to sickle cell anemia
-heterozygous-50% are replaced and have sickle cell trait
thalassemias
-heterozygous group of genetic disorders characterized by deficient production of with or the two globin chains (a,B)
-both have inadequate amounts of hemoglobin resulting in red bloods that are microcytic and hypochromic
glucose 6 phosphate dehydrogenase deficiency
-reduces res cells to protect themselves from oxidative injury
-on x chromosome
-asymptomatic until exposed to incriminating drugs or infections
-bite cells
iron deficiency anemia
-affects 10% in developed 50% in developing
-total body iron content in woman is 2gm and in met 6gm
-iron balance regulated by absorption of dietary iron
-causes- low dietary intake, malabsorption, increased demand, chronic blood loss
-manifestations-assympomatic, weakness, pica,
megoaloblastic anemia
-Caused by deficiency of folate of fit B12
-defined by large erythroid precursor cells in bone marrow
-leads to pancytopenia (everything is low in bone marrow)
folic acid deficiency
-severe dietary deprivation (alchoholics, fad dieters), pregnancy, intestinal malabsorbtion
-this is why we have prenatal vitamins
Vitamin 12 deficiency
-most common form of megaloblastic anemia
-leads to demyelinating disorder (myelin sheet is around neurons, so actions are not the way they should be)
aplastic anemia
-severe anemia resulting in suppression of myeloid stem ells resulting in marrow failure and pancytopenia (less RBC and WBC and platelets)
polycythemia
-increase in concentration of red blood cells with increased hemoglobin concentration
*primary-due to proliferation of myeloid stem cells
*secondary-due to red cell progenitors
Agranulocytosis/Neurtropenia
-reduction in number of granulocytes in blood
Leukemia
-group of malignancies of either lymphoid of hematopietic cell origin
acute leukemia
-predominance of blast cells
-occur most often in children
-second peak at age 60
-without therapeutic intervention death occres within 6-12 months
ALL acute lymphoblastic Leukemia
-characterized by predominance of lymphocytes (T and B cells)
-occurs most often in children of age 4
-MOST responsive to therapy
AML acute myeloblastic leukemia
-characterized by predominance of myeloblasts and early promylocytes
-occurs frequently in adults
chronic leukemias
-more mature than those of acute
-have longer less devastating clinical course
CLL chronic Lymphocytic Leukemis
-characterized by proliferation of neoplastic lymphoid cells (almost always b cells)
-incapable of differentiating into antibody producing plasma cells
-occurs mostly in men over 60
-appearing on smear as "smudge cells"
*complications- cells wil start breaking down (hemolytic anemia) less platelets (thromocytopenia) and less antibodies (hypogammaglobulinemia)
*clinical- hepatosplenomegaly, 3-7 year survival
CML chronic Myeloid Leukemia
-neoblastic clonal proliferation of myeloid stem ells
-characterized by reciprocal transformation between chromosome 9 and 22 resulting in philadelphia chromosome
-peak incidence 35-50
polycythemia vera
-marked by erythrocytosis (too much RBC)
-decreased erythropoietin
multiple myeloma
-malignant plasma cell tumor that typically involves bone and is associated with prominent serum and urine protein abnormalities
-produce lytic lesions in skull ad axial skeleton
-punched out lesions on X-ray, osteopenia, bone pain and spontaneous fractures, Bence Jones proteins in urine, hypercalcimia
Hodgkins Disease
-malignant neoplasm
-affects young adults (men)
-cure is often achieved
Reed Sternbergs cells
-may be actual malignant cells of Hodgkins disease
-binucleated or multi (owls eye)
non hodgkins lymphomas
-malignant neoplasm within lymphoid cells or in other lymphoid tissue
Thrombocytopenia
-decreased platelet count and prolonged bleeding
Atelectasis
-loss of lung volume due to inadequate expansion of the airspace resulting in hypoxia
-pseumothorax- air goes into lung
Obstructive Lung Disease
-decreased airflow due to obstruction
-FVC normal but FEV1 is decreased
restrictive lung disease
-decreased expansion and decreased total lung capacity
-FVC reduced but FEV1 normal
emphysema
-permanent enlargement of airsacs distal to terminal bronchioles
-consequence of cigarette smoking which breaks down the elasticity
-CO2 stays in (problem breathing out)
-clinical-
pink puffers-no bronchitic component, barrel chested, prolonged expiration (takes a long time to breathe out
-blue bloaters-have recurrent bronchitis with purulent sputum, less respitor drive leads to CHF
chronic bronchitis
-common upon cigarette smokers and urban dwellers
-productive cough for 3 consecutive months in at least 2 consecutive years
-hypertrophy(size) of mucus glands
Bronchial asthma
-chronic inflammatory disorder of airways
-caused by repetitive immediate hypersensitivity and late phase reactions
-2 types-
atopic-70% due to IgE environmental
-non atopic- 30% exercise stress aspirin
-type 1 hypersensitivity reaction
-late phase reaction occur 4-8 hrs after acute and lasts 12-24
Bronchiectasis
-permanent dilation of bronchi and bronchioles due to chronic infections or obstruction
-cystic fibrosis and Kartangers syndrome- makes and doesn't move mucous
honeycombing
Pneumoconiosis
-comprises of anthracosis(coal), silicosis, and asbestosis
coal workers pneumoconiosis
simple CWP- asymptomatic, no pulmonary dysfunction
-characterized by coal macules and coal nodules with collagen fibers
complicated CWP-massive fibrosis, reduced lung function, coal nodules coalesce
silicosis
-most common chronic occupational disease
-macrophages release cytokins and free radicals
-increased susceptibility to TB and cancer
asbestosis
-liked with 6 disease processes
-cigarette smoking increases risk
--even family members exposed to asbestos are at a higher risk of cancer
Sarcoidosis
-multisystem with unknown etiology
-non caseating grandulomas
-40 or older (non smokers
-non matted hilar and paratracheal lymph nodes
-plaque and granules on skin
diseases of vascular origin
-pulmonary embolism, hemorrhage, infarction
-emboli often arise from deep veins of leg
-60-80% silent
-one episode causes high reoccurrence
pulmonary hypertension
-pulmonary BP reaches 1/4 or more systematic pressure
-causes- chronic obstruction, interstitial lung
-recurrent pulmonary emboli
-primary- in young persons (women) chest pain, CHF, death
-secondary-any age, respiratory insufficiency, CHF
4 stages of pneumonia
congestion
red hepatization
gray hepatization(blood tries to break down)
resolution
lung abscess
-multiple cavities of necrotizing pneumonia may coalesce to form absess
-productive cough, foul smelling breathe, clubbing
-treatment- surgical drainage, antibiotics
Tuberculosis
-casues by mycobacterium tuberculosis
-casues caseous necrosis
-flourishes in poverty
infection by airborne transmission
-positive tubercilin test (reaction 1-2 days)
primary tuberculosis
-develops in previously unexposed and unsesitized person
-harboring viable bacteria to use several years later
secondary tuberculosis
-usually localized in apex of the lung (hides there)
-hemoptysis (blood in cough)
pneumocystis pneumonia
caused by (P) leading to restrictive lung disease
-occurs when immunity is compromised (AIDS)
Carcinomas of the lung
-1 cause of cancer deaths in the US
-4 types-
adenocarcinoma, squamous cell carcinoma, large cell carcinoma, small cell carcinoma. SCLC is not cured by surgery
pleural effusion
fluid in pleural space
-caused by cancer, infarction, infection
Malignant Mesotheliomas
-rare cancer of mesothelial cells in partietal or visceral pleura
-thick firm white pleural tumor
functions of Kidney
-excretion of waste, regulation of water, maintainance of acid balance, secretion of hormones
azotemia
-prerenal
-due to hypo perfusion of kidneys
-GFR decreased
Uremia
-broader term referring to the pathological manifestations of severe azotemia
nephrotic syndrome
-derangement in capillary walls of glomeruli resulting in increased permeability to plasma proteins
-presents as-
massive proteinuria, hypoalbuminemia, generalized edema, hyperlipidema
nephritic syndrome
-complex collection of acute symptoms
-characterized by- hematurina,oliguria,hypertension
minimal change disease
-occurs in children 1-7
-on electron microscope, disappearance or fusing of epithelial foot
-due to T cell deprived factor
Membranous Glomerulosclerosis
- similar to minimal change but happens in adults and children
-sclerosis of some glomeruli
Carcinomas of the lung
-1 cause of cancer deaths in the US
-4 types-
adenocarcinoma, squamous cell carcinoma, large cell carcinoma, small cell carcinoma. SCLC is not cured by surgery
pleural effusion
fluid in pleural space
-caused by cancer, infarction, infection
Malignant Mesotheliomas
-rare cancer of mesothelial cells in partietal or visceral pleura
-thick firm white pleural tumor
functions of Kidney
-excretion of waste, regulation of water, maintainance of acid balance, secretion of hormones
azotemia
-prerenal
-due to hypo perfusion of kidneys
-GFR decreased
Uremia
-broader term referring to the pathological manifestations of severe azotemia
nephrotic syndrome
-derangement in capillary walls of glomeruli resulting in increased permeability to plasma proteins
-presents as-
massive proteinuria, hypoalbuminemia, generalized edema, hyperlipidema
nephritic syndrome
-complex collection of acute symptoms
-characterized by- hematurina,oliguria,hypertension
minimal change disease
-occurs in children 1-7
-on electron microscope, disappearance or fusing of epithelial foot
-due to T cell deprived factor
focal and segmental Glomerulsclerosis
- similar to minimal change but happens in adults and children
-sclerosis of some glomeruli
membranounous glomerulonephritis
-slowly progressive immune complex of unknown etiology
-occurs in ages 30-50
-thinking of basement membrane showing a spike and dome appearance
diabetic nephropathy
-increase in thickness of glomerural basement
-increase in mesangial matrix
results in diffuse or nodular patterns
poststreptococcal gloerulonephritis
-follows or accompanies infection
-decreased serum C3 and increased ASO
-characterized by an intense inflammatory reaction involving almost all glomeruli in both kidneys
-lumpy bumpy
IgA nephropathy
(bergers disease)
-characterized by benign recurrent hematuria in children
-2 days after a non specific respiratory orGI infection
-deposition of IgA in the mesangium
Alports Syndrome
-hereditary nephritis associated with nerve deafness
-x linked
-mutations result in improper deposition of collagen in GBM
Chronic Glomerulonephritis
-cause of end stage renal disease
-microscopic hematuria, hypertension, edema
-prognosis poor- renal dialysis and tranpantation
Chronic Pyelonephritis
intestinal inflammation and scarring
-important cause of renal failure
Analgesic Nephropathy
-leads to chronic interstitial nephritis and renal papillary necrosis, chronic renal failure, hypertension, and anemia
malignant hypertension and malignant nephrosclerosis
-occurs in 5% go hypertensives
-due to increasing thickening of arterioles
-aldosterone increase an salt retention adds to it
Urolithiasis
(kidney stone)
-caused by calcium oxalate or calcium phosphate
-increases urine concentration of offending salts with or without increased blood levels
-alkaline urine- promotes Mg and calcium stones
-acidic urine-favors uric and cystine stones
renal cell carcinoma
most common renal malignancy
-deletion in chromosome 3
-occurs most often in men 50-70
-originates in renal tubes
-characterized by clear cells
Wilms Tumor
most common renal malignancy of early childhood.
-peaks at 2-4
-most often presents with palpable flank mass
hypospadias
-anomaly where urethral meatus opens on the ventral surface of penis
Epispadias
-anomaly where the urethral meatus opens on the dorsal surface
-less common
Phimosis
tight forskin
priapism
-painful erection of the penis
-sometimes associated with venous thrombosis
squamous cell carcinoma of the penis
0.4% in US, higher in developing countries
-preceded by carcinoma in situ
Bowen Disease
plaque like lesions on shaft
-can proceed to invasive cancer
Erythoplasi of Queyrat
-presents as erythematous patch on glans
Bowenoid papulosis
-multiple reddish brown plaques on glans in the young
Hydrocele
-cause scrotal enlargement due to accumulation of serous fluid within tunica vaginalis
hematocele
-accumulation of blood
Elephantiasis
due to lymphatic obstruction
Cryptochidism
-failure of testicular descent in to scrotum
-1%
testicular Neoplasms
-hCG is elevated in choriocarcinomas
-AFP is elevated in yolk sac tumors
Prostatitis
-acute- caused by ecoli
-chronic-follows acute, causes recurrent UTI
-caused by chlamydia
-painful and a lot of urination
Nodular hyperplasia of the prostate
-hyperplasiaof the traditional and central zones
-begins at 40
-DHT (hormone) is a stimulus
-characterized by rubbery, nodular enlargment in the inner group of glands
Carcinoma of the prostate
-second most common cancer in men
-peak 65-75
most common in blacks not in japanese
-arises in peripheral zone
-often silent
-hard, fixed prostate
-PSA is marker in blood
Syphilis
-caused by treponema palladium
-primary stage-painless ulcer
-2-rash on palms and soles
-3-spreads.eats flesh,nose falls off, lesions(gumma)
Gonnorrhea
-caused by neisseria gonorrhoeae
which appears as intracellular gram negative diplococci
-acute purulent urethritis with 2-7 days after exposure
-in females symptoms less prominent but leads to scarring and infertility
nongonococcal urethritis and cervitis
-most common forms of STDs caused by chlamydia trachoma tis
-cause epididymitis and reiter syndrome
Human Papillomavirus Infection
HSV1 and 2 cause genital infections
vulvar dystrophies
-group of disorders that present leukoplakia (white patch like lesion)
Condylomas
-anogenital warts
-2 forms-
condomata lata- rare, occurs in secondary syphilis
-condomata acuminata-assosiated with HPV
Vaginitis
-inflammation
-candidal vaginitis-curdy white discard
-trichomonal vaginitis-watery, gray green discharge. foul smelling
-nonspecific atrophic vaginitis-dry vagina
cervicitis
-extremely common
-chlamydia trachomatis is most common
Cervical Intraepithelial Neoplasia CIN
precancerous lesion
-peak age 30
-follows HPV infection
-early age inter-coarse and many partners
Invasive carcinoma or cervix
-peak occurrence is 45
-related to HPV
-risk factors same as CIN include smoking
Endometritis
inflammation of endometrium
-acute- related to trauma, such as retention of placenta
-chronic-abdominal pain, fever, infertility
-characterized by endometrial glands and stoma not in place
-chocolate cyst
menorrhagia
prolonged bleeding
Metrorrhagia
irregular bleeding
Ovulatory
Occurring between the periods
Endometrial polyps
lesions 0.5-3 cm high in the fundus
-more common in menopause
Leiomyomas
-benign firm tumors (called fibroids)
-30-50% in reproductive life
endometrial carcinoma
-most common gynecologic malignancy
-55-66
-occurs in per menopausal women with estrogen excess
-increased and prolonged estrogen stimulation
Fibrocystic disease
-most common disorder of the breast
-most common cause of palpable breast mass
-20-50
-characterized by lumpy breast with mid cycle tenderness
-benign
Fibroadenoma
-most common benign tumor in women younger that 25
-presents firm rubbery painless well circumscribed lesion
carcinoma of breast
-second most common malignancy of women
-1-8 women in US
-positive family history
-no children
-prognosis- depends on tumor size