It is the loss of normal integrity of supraspinatus or infraspinatus tendons – partial or complete rupture (occurs mostly in patients with rotator cuff tendonitis – 3-7% of cases, but may be caused by acute injury). Patients complain of weakness and may notice a “pop” or sharp stabbing pain at the time of rupture. Weakness [...]

This is a term used to describe loss of significant portion of normal range of motion in glenohumeral joint (due to loss of elasticity in joint capsule and adhesions – adhesive capsulitis caused by injury in the areas of shoulder or neck or paralytic stroke). Patients complain of inability to scratch back, fasten bra, shave [...]

It is an inflammation of the supraspinatus and infraspinatus tendons lying between humeral head and the acromial processus (due to overuse – repeated abduction and elevation of upper arm). Patients complain of pain in outer parts of shoulder when lifting arm over the head or reaching to the back. Focal subacromial tenderness is found on [...]

It is a neurologic abnormality in upper extremity due to process in the neck (arthritis, herniated disk, etc.). Nerve impairment is progressive, leading to sensory loss, deep tendon reflex loss, motor strength loss, loss of tone and bulk of the muscle, and finally long tract symptoms. Most patients have numbness and tingling in fingers (some [...]

It exhibits as irritation and spasm of the upper back or cervical muscles. Symptoms include pain, stiffness, and tightness in described muscles. Trigger points exist in paracervical muscles and upper back (trapezius muscle). There is no bony tenderness on examination. There is reduced ability to rotate neck to the side of pain and reduced ability [...]

Monoclonal proliferation of plasma cells of unknown cause Median age at diagnosis is 68 and is rare before 40. Bone pain is most common symptom (70%) (back and ribs). Bone lesions are typically osteolytic (activation of osteoclasts). Hypercalcemia is a common sign. Renal failure (due to light chain proteinuria, hypercalcemia, etc.) Anemia (due to myelophthisis) [...]

Most common leukemia. B cell origin. Usually asymptomatic lymphocytosis (median age 60 years) Lymphadenopathy and splenomegaly are also prominent features. Must exclude reactive lymphocytosis (usually normal T-cells). Initial observation is generally recommended (due to benign course). If needed, specific therapy includes Chlorambucil +/- prednisone. Fludarabine, pentostatin, and cladribine are also very active in CLL. Symptomatic [...]

Patients usually present with signs of marrow failure (anemia, thrombocytopenia, and neutropenia). CNS often affected (particularly as a site of relapse) Uric acid nephropathy – due to high cell turnover (and tumor cell lysis during therapy) Therapy includes induction, consolidation, CNS prophylaxis, and maintenance therapy. Anthracycline with vincristine and prednisone induce complete remission in 85% [...]

Most common of indolent lymphomas (50% of all non-Hodgkin’s) Patients usually present with painless peripheral adenopathy. Adenopathy frequently present for years Adenopathy has “waxed and waned”. Survival for stage III and IV is 7-9 years. Other indolent lymphomas are marginal zone lymphomas and mycosis fungoides.

Less than 30% of marrow blasts defines chronic (>30%=acute). The chronic myeloproliferative disease includes chronic myelogenous leukemia (CML), polycytemia vera, agnogenic myeloid metaplasia, and essential thrombocytopenia. Only CML has (90-95%) Philadelphia chromosome (translocation of part of the 22 chr. To 9 chr.- 22 chr.stays short). Disease may accelerate and undergo blast crisis (turns acute ML). [...]

Mostly male patients over 40 years of age Most common clinical presentation is pancytopenia and splenomegaly. Usually indolent course (median survival over 4 years) Tartarate-resistant acid phosphatase (TRAP) positive CD11c positive malignant B-cells Therapy with purine analogs (pentostatin, cladribine) highly effective regardless of the cell burden or previous therapy (durable complete remissions in 90% of [...]

Exclusion of other treatable diseases is imperative (parasagittal foramen magnum tumors, spinal AV malformation, cervical spondylosis, etc.). Neurodegenerative disorder involving lower motor neurons (anterior horn cells and their brain stem homologues) and upper motor neurons (layer 5 of motor cortex). Involvement of both motor neurons types is characteristic (although disease may start with either type [...]

Von Hippel-Lindau syndrome – Retinal angiomas, cerebellar hemangioblastomas Li-Fraumeni syndrome  - Glial tumors, medulloblastoma Werner syndrome (MEN-1)  - Pituitary adenomas, malignant schwannomas Von Recklinghausen’s disease type 1 – Neuroma, schwannoma, meningioma, optic glioma Neurofibromatosis type 2 – Glial tumors Retinoblastoma – Retinoblastoma, pinealoblastoma Tuberous sclerosis – Astrocytoma Turcot syndrome – Astrocytoma, medulloblastoma

Autosomal dominant inheritance Consists of retinal angiomas and cerebellar hemangioblastomas (slowly growing cystic tumors occurring at any age) Hemangiomas of spinal cord, hypernephroma, pheochromocytoma and cysts of the kidney, pancreas, liver and epididymis also occur. Polycytemia due to erythropoetin production in cerebellar hemangioblastomas may also be seen.

It is inherited as autosomal dominant trait. It is characterized by cutaneous lesions, seizure, and mental retardation (hydrocephalus is also seen). Cutaneous lesions include adenoma sebaceum, leaf-shaped hypopigmented macules (best seen under the Wood’s lamp), shagreen patches (yellowish thickening of the skin over lumbosacral area), and depigmented nevi. Rhabdomyomas of the myocardium, angiomyomas of the [...]

Neurofibromatosis type 1 (NF1) – (Von Recklinghausen disease) is characterized by multiple neurofibromas (benign tumors of peripheral nerves), café au lait spots (six of them bigger than 1.5 cm in diameter is enough for diagnosis), hamartomas of the iris (Lisch nodules). Other features include axillary freckling, pseudoarthrosis of the tibia, hydrocephalus (due to aqueductal stenosis), [...]

It is the most common cause of intracerebral mass in patients with AIDS. About a third of patients present with confusional state that lasts for days or weeks. Other clinical features include fever, focal neurologic abnormalities (cranial nerve palsies, hemiparesis, seizures, headache, and signs of meningeal irritation). Serologic tests for toxoplasmosis are unreliable in patents [...]

It is thought to be caused by rapid removal of urea and other molecules from blood, leading to relative hypo-osmolality of extracellular fluid and shift of water into the brain. Rapid correction of acidosis may also contribute by aggravation of cerebrospinal fluid (CSF) acidosis (as CO2 diffuses to CSF). It is most common after patient’s [...]

Astereognosis – Inability to recognize objects by touching with hand. Agraphesthesia – Inability to identify a number written on the hand. Allesthesia – phenomenon in which patient wrongly perceives location of tactile stimulus. Extinction – A visual or tactile stimulus is perceived when applied alone to side contralateral to lesion, but not when stimulus is [...]

Myasthenia gravis is a relatively rare autoimmune disorder of peripheral nerves in which antibodies form against acetylcholine (ACh) nicotinic postsynaptic receptors at the myoneural junction. A reduction in the number of ACh receptors results in a characteristic pattern of progressively reduced muscle strength with repeated use of the muscle and recovery of muscle strength following [...]

Sporadic degenerative disorder with neuronal loss, gliosis, and neurofibrillary tangles in the midbrain, pons, basal ganglia, and dentate nuclei of the cerebellum  It is a neurodegenerative disease that affects cognition, eye movements, and posture. Marked impairment of voluntary downward and horizontal gaze distinguishes disorder from Parkinson’s disease (also extended, rather than flexed dystonic posturing of [...]

This is a simultaneous or sequential involvement of noncontiguous nerve trunks.  Mononeuritis multiplex is a painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas. Multiple nerves in random areas of the body can be affected. As the condition worsens, it becomes less multifocal and more symmetric. [...]

Result from urinary tract infection by urease producing bacteria (usually Proteus – in cases of impaired urinary drainage, urologic instrumentation or surgery, and with chronic antibiotic regimens). Urease degrades urea to NH3 and CO2. NH3 forms NH4+ and raises pH of urine to 8 or 9. CO2 forms H2CO3 in reaction with water and then [...]

Acute tubulointerstitial reaction stemming from hypersensitivity to sulfonamides, penicillins, cephalosporins, flouroquinolons, isoniazid, rifampin, thiazide and loop diuretics, cimetidine, ranitidine, omeprazole, and nonsteroidal anti-inflammatory medications. Kidneys are enlarged, glomeruli appear normal, but interstitium is edematous and infiltrated by polymorphonuclears, lymphocytes and plasma cells, and sometimes a large number of eosinophils. Most patients require several weeks of [...]

This is a disturbance of renal function and structure caused by chronic hypokalemia (at least several weeks). Tubular cells in proximal tubules contain numerous vacuoles. Glomeruli become smaller and sclerotic. Loss of urinary concentrating ability is the most common functional defect. Nocturia, polyuria and polydipsia (polydipsia may be due to disorder of primary thirst mechanism [...]

Test is performed on patients with hypertension that suggests renovascular origin (due to stenosis of renal artery). This test relies on significant increase of plasma rennin activity (PRA) after administration of angiotensin converting-enzyme (ACE) inhibitor (captopril) to patients with renal artery stenosis. Affected kidneys experience diminished perfusion after administration of ACE inhibitors. Special care has [...]

Narrowing of the renal artery is responsible for 2-5% of hypertension cases (newly developed hypertension in patients over 50 years of age should trigger suspicion). In middle aged and older males the most common cause is atherosclerotic narrowing at the origin of the renal artery. In younger women narrowing is most commonly caused by abnormality [...]

This condition occurs in association with trauma, nephrotic syndrome, renal vein invasion by renal cell carcinoma, dehydration, and with external compression of the vein by variety of processes. Nephrotic syndrome in membranous glomerulopathy and renal cell carcinoma are especially high-risk conditions (incidence 10-50%). Acute cases are characterized by sudden loss of renal function, often with [...]

It is an autosomal recessive disorder of unknown pathophysiology characterized by hypokalemia (due to renal potassium wasting), metabolic alkalosis, and low or normal blood pressure. Most likely it is caused by impaired chloride reabsorption in thick ascending limb of loop of Henle leading to volume depletion and hyperexcretion of potassium and hydrogen ions. Renin and [...]

Type IV renal tubular acidosis (RTA), or hyperkalemic RTA or tubular hyperkalemia, refer to cases with normal renin and aldosterone production but impaired tubular responsiveness, usually caused by a distal tubular voltage defect.It often occurs in diabetics. Acidosis usually is mild and asymptomatic, and is usually discovered during routine labs. Because several commonly used drugs may unmask [...]

Disorder of proximal nephron – defective bicarbonate reabsorption in proximal tubule (usually as a part of generalized tubular disorder – Fanconi syndrome) Large amount of bicarbonate is excreted; characterized by normal anion gap acidosis and hypokalemia. Urine may become maximally acid – pH below 5.5. Daily acid excretion is normal, but fractional bicarbonate excretion is [...]

Disorder of distal nephron – collecting ducts permit excessive back-diffusion of hydrogen ions into the blood, or there is inadequate excretion of hydrogen ions from the blood to urine. Primary forms are passed on in several forms of inheritance (most commonly autosomal dominant). Secondary forms are more common and are associated with systemic disorders such [...]

Four forms exist: – X-linked classical (hematuria, sensorineural deafness, and lenticonus) – X-linked associated with leiomyomatosis – Autosomal recessive (only renal disease) – Autosomal dominant (only renal disease) Due to X-linking it is less severe in females. The hematuria progresses to nephritis and may cause renal failure in late adolescence in males or later in [...]

Similar to thrombotic thrombocytopenic purpura (TTP) – both have the same arteriolar lesions. Neurologic changes are rare in HUS and common in TTP. Lesions in HUS may be confined to kidney. Most patients have either anuria or hemoglobinuria. HUS is usually encountered in young children. Often there is history of gastroenteritis with bloody diarrhea caused [...]

Leading cause of acute nephritic syndrome 10 days after pharyngitis/skin infection w/ beta hemolytic streptococcus Symptoms – Gross hematuria, headache, anorexia, nausea, vomiting and malaise, hypervolemia, edema, and hypertension. Urine – RBC’s, red cell casts, leukocytes, and protein Labs – Antibody to antistreptolysin O (ASO) micro show diffuse proliferative glomerulonephritis’ “starry sky” appearance Treatment: Antibiotics, [...]

Disease with diffuse alveolar hemorrhage and glomerulonephritis with linear deposition of IgG on alveolar and glomerular basement membrane “Classical” presentation affects young men ages 18–35. About 30% of patients are women. Presenting symptoms include hematuria, proteinuria, azotemia, cough, hemoptysis, dyspnea, fatigue, anemia, chills, fever, and weight loss. Renal and pulmonary involvement may present up to [...]

Echoviruses – (30% of all cases) peak during summer and fall among the children and their family members (fecal-oral transmission). Gastroenteritis may be associated as well as maculopapular, vesicular, or petechial skin rash. Coxsackievirus A – (10% of cases) peak in summer and fall, affects children and family members (fecal-oral transmission). Herpangina may be associated [...]

It is due to integrin gene defect and consequent inability to bind to opsonized microorganisms and thus failure of phagocytosis. Patients develop severe bacterial infections, particularly of the mouth and gastrointestinal tract. Patient’s leukocytes cannot adhere to endothelium either, and cannot migrate to the places of infections (this allows for rapid spread of the infection). [...]

Due to defect of phagocytosis (inability of neutrophils to form highly reactive oxygen species required for bacterial killing after phagocytosis). Surviving microorganisms give rise to cell mediated immune response and formation of granulomas. Affected children develop pneumonia, lymphadenitis, sinus infections, and abscesses in the skin, liver and other viscera. Diagnosis is by demonstration of inability [...]

It is a tick-borne disorder from systemic infection by the spirochete Borrelia burgdorferi. Occurs in Europe, Northeastern U.S.A., and Australia Primary infection may manifest by an expanding erythematous annular skin lesion (erythema chronicum migrans), usually on thigh, groin or axilla. Besides neurologic, there are also cardiac involvement (conduction defects, myocarditis, pericarditis, etc.), and symptoms such [...]

TSS is a rare condition (reported incidence in menstruating women is 1:100 000). It is caused by any of several related toxic exoproteins produced by Staph. aureus. TSST-1 is the toxin most frequently implicated and enterotoxin B the second most frequent. For TSS to develop individuals need to be infected or colonized with toxigenic Staph. [...]

Occurs either by direct spread from ruptured lymph node or intraabdominal organs or by hemathogenous seeding Nonspecific abdominal pain, fever, ascites are common signs and should raise suspicion. Coexisting liver disease complicates the diagnosis. Paracentesis reveals exudative fluid with high protein level and leukocytosis (lymphocytosis usually). Yield of direct smear and culture is low. Peritoneal [...]

Accurate diagnosis relies on culture of haemophilus ducreyi. Clinical picture is dominated by painful genital ulcers and marked inguinal adenopathy. Therapy includes – ceftriaxone 250 mg IM as a single dose, – erythromycin 500 mg four times a day X 7 days, and – ciprofloxacin 500 mg twice daily X 3 days. There are also [...]

Caused by Chlamydia psittaci–a bird disease Infection of humans from birds results in pneumonitis with systemic manifestations. Symptoms: – shaking chills and fever (up to 40.5 Celsius), – diffuse and excruciating headache, – dry hacking cough, – epistaxis, – photophobia, and – myalgias, stiffness and spasms of the muscles Diagnosis: – chest x-ray is nonspecific [...]

Infections with Chlamydia P. start to occur in late childhood and peak in young adulthood but continue throughout the life.  Usually males but can occur in either sex. It causes epidemics of pneumonia and other respiratory infections. Transmission is from person to person. Several episodes in the same person are common (first episode is usually [...]

Most common transmission-–breast feeding Endemic in Japan, Caribbean, central Africa, Italy, Israel In Southwestern United States ATL develops in 2-5% of patients. Four types – acute, lymphomatous, chronic and smoldering Poor survival (median – 6 mo for acute and 5 years for smoldering) Associated with myelopathy (tropical spastic paraparesis) This is more common in females. [...]

Autosomal recessive male/female equal Other terms for this disorder include plasma thromboplastin antecedent (PTA) deficiency, Rosenthal syndrome, and hemophilia C. Racial predilection for people of Jewish heritage.  Look for this! An unexpected and incidental preoperative finding of a prolonged activated partial thromboplastin time (aPTT) and no explanation may prevent a scheduled surgery. In contrast to hemophilias [...]

Due to inappropriate increase in iron resorption from intestine or from iron overload due to multiple transfusions. Symptoms include skin pigmentation (90%), diabetes mellitus (65%), liver impairment (hepatomegaly in 95%), cardiac impairment (CHF in 10-15%), arthropathy (25-50%), and hypogonadism. Treatment involves phlebotomy (weekly or biweekly – 500 mL initially, later one every 3 months), and [...]

Paroxysmal nocturnal hemoglobinuria is an acquired clonal disease in which some red blood cells have no way to attach proteins to outer membrane (proportion of abnormal cells varies from patient to patient). Paroxysmal nocturnal hemoglobinuria (PNH) is a descriptive term for the clinical manifestation of red blood cell (RBC) breakdown with release of hemoglobin into [...]

Most common defect in the hexose-monophosphate shunt Probably partially protects from malaria infection Affects about 200 million people worldwide Patient may experience a hemolytic crisis within hours of exposure to oxidant stresses including: – Antimalarials (primaquine, pamaquine, dapsone), – Sulphonamides (sulfamethoxazole), – Nitrofurantoin, – Analgesics (acetanilid), – Miscellaneous (Vit.K, doxorubicin, nalidixic acid, methilene blue, niridazote [...]