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54 Cards in this Set

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X-linked Myotubular Myopathy (OMIM at NCBI)
• defect in lipid phosphatase → embryonic muscle tissue
• 1:50,000 male live births; females are carriers
• gene Xq28; 80% of affected individuals have mutation in MTM1 gene  encodes myotubularin protein  lipid phosphatase
• identified in 1966 by muscle biopsy showing centrally located nucleus in skeletal muscle that resembles the fetal stage of muscle development
• Diagnosed by “floppy” male infant followed by needle biopsy
• low muscle tone w/ delayed developmental milestones (esp. head control, crawling, & walking)
• fatal in first 2 years of life due to respiratory failure.
• no cure
Duchenne’s muscular dystrophy
• X-linked recessive disorder (Xp21)  mutation in gene that encodes the protein dystrophin  progressive muscular weakness (no longer able to anchor actin to extracellular matrix)
• Disruption of sarcolemma  entry of Ca2+ into muscle cell  necrosis of muscle fiber
• Primarily affects males – onset between 3-5 years of age; unable to walk by 12; require respirator to breath by age 20
• increased serum creatine kinase levels
• Muscular dystrophies - heterogeneous group of congenital muscle diseases characterized by severe muscle weakness, atrophy & destruction of muscle fibers.
• caused by genetic defects in muscle transmembrane proteins linking dystrophin to laminin
• no cure
• large calf muscles
• Usually die due to pneumonia or heart complications
Botulism
• Food poisoning caused by Clostridium botulinum toxin (BOTOX)  inhibits ACh release at neuromuscular junctions
• Light chain of toxin cleaves Snap-25, preventing docking of Ach vesicles on presynaptic terminal membrane
• Characterized by muscle paralysis, vomiting, nausea, & visual disorders
• Fatal if untreated; treatment – hospitalization, antibiotics, antitoxin (antidote to botulinum toxin)
• Weaponized (US WWII; Iraq used in 1990)
Myasthenia gravis
• Autoimmune disease; -ACh receptor antibodies produced
• Abs bind & block access of ACh to receptor
• Characterized by extreme muscle weakness, decrease in number of neuromuscular junctions, ptosis (drooping upper eye lid) & diplopia (single object seen as two)
•Treatment: AChase inhibitors, thymectomy, anticholinesterase drugs, immunosuppresive drugs, plasmapheresis (removal of Abs), IV immune globulin
Rhabdosarcoma
cancer arising from striated muscle
Sarcoma= CT cancer
• Most common type of childhood sarcoma; can occur anywhere in body; in US ~ 350 children diagnosed/year
• 3 types:
- Embryonal – most common; occurs most often in head, neck, genital or urinary regions
- alveolar – common during teens; occurs in arms, legs, chest, abdomen, genital or anal regions
- anaplastic – rare in children
• Symptoms include: lump or swelling that continually increases in size, eye bulging, headache, problems urinating or with bowel movements, blood in urine, bleeding in nose, throat, vagina or rectum; histology positive for IF desmin
• Treatment: surgery, radiation therapy and chemotherapy; new treatments include: high dose chemotherapy with stem cell transplant (blood, bone marrow)
Central Core Disease
• Autosomal dominant/recessive mutation in ryanodine receptor
• Onset – congenital; symptoms – poor muscle tone and weakness in infants; delay in attainment of motor milestones; skeletal deformities (joint dislocations & scoliosis)
• Patients susceptible to malignant hyperthermia with some anesthetics
• H&E appearance – faint central abnormality in myofibers; Myosin ATPase stain reveals central round areas devoid of staining
• Susceptible to malignant hyperthermia (elevated body temp)
Nemaline Myopathy
• Congenital, herediatary disease (1:50,000) due to mutations in nebulin
• Characterized by delayed motor development, muscle weakness in arms, legs, trunk, throat, and face muscles (usually non-progressive)
• Trunk muscle weakness leads to respiratory issues without therapy and/or intervention
• Histology – muscle biopsy reveals thread-like rods called nemaline bodies (positive for actin and α-actinin)
• No cure
Desmin-related myopathy
• Autosomal recessive & dominant forms
• Mutation in desmin that prevents its forming intermediate filament rods; instead forms intracytoplasmic desmin aggregates in skeletal & cardiac muscle
• Desmin normally found around Z-line; connects Z-lines to cytoskeleton underlying plasma membrane; signaling thru desmosomes
• Histology – sarcomers misaligned; loss of Z-lines and normal striated appearance; muscle cells die by apoptosis and necrosis; desmin inclusion bodies in skeletal and cardiac muscles
• Characterized by weakness and atropy of distal muscles of legs, arms, trunk and neck
• Respiratory issues due to trunk muscle weakness and loss
• ~60% of patients also have cardiac involvement; most patients ultimately require wheelchair, walker, etc.
Myocardial infarction
• Irreversible necrosis of cardiac muscle cells due to prolonged ischemia (> than 20 mins) (ischemia= lack of blood supply)
• Detect lactic dehydrogenase-1 and creatine kinase in serum.
• Fatal if extensive damage to cardiac muscle
• Treatment: bypass surgery
Pompe’s Disease (Acid maltase deficiency)
• Loss of acid maltase in muscle  inability to process carbohydrates
• Affects storage and breakdown of glycogen in lysosomes (AKA lysosomal storage disease)
• In absence of acid maltase, glycogen accumulates & is not converted to glucose
• Onset in infants – usually fatal by 2; child & adult onset less severe
• Characterized by slow progressive weakness in respiratory muscles, hips, upper leg & arms, shoulders; cardiac involvement in childhood forms
Naegeleria Fowleria Infection
• N. fowleri (a protist, sometimes called the “brain-eating ameba”)
• invade the cental nervous system via the nose, more specifically the olfactory mucosa and cribriform plate of the nasal tissues.
• The penetration initially results in significant necrosis of and hemorrhaging in the olfactory bulbs.
• From there, amoebae climb along nerve fibers through the floor of the cranium via the cribriform plate and into the brain.
• The amoebae begin to consume the cells of the brain piecemeal by means of a unique sucker apparatus extended from their cell surface.
• It then becomes pathogenic, causing primary amoebic meningoencephalitis (PAM).
• PAM is a syndrome affecting the central nervous system, characterized by changes in olfactory perception (taste and smell), followed by vomiting, nausea, fever, headache, and the rapid onset of coma and death in two weeks.
• N. fowleri are present in Oklahoma lakes and fresh water areas.
Sinusitis
• Maxillary sinus most often involved in adults, ethmoid sinus in children
• Blockage of drainage via paralysis of ciliary elevator or viral/bacterial upper respiratory infection or deviated septum.
• Results in fever, nasal congestion, pain over sinus.
• Sinuses become congested with mucous and bacterial growth.
Cystic Fibrosis (CF
• Chronic obstructive pulmonary disease of children & young adults
• Nasal polyps are associated with CF.
• Nasal polyps in a child warrant a sweat test to rule out CF.
• What is another name for CF? mucoviscidosis
• Defective transmembrane pumps for Cl-; decrease Cl- secretion, ^ water & Na+ reabsorption thus mucous is dehydrated & viscous
• Mucociliary escalator malfunctions & unusually thick mucous builds up
RDS – Respiratory Distress Syndrome in newborns/infants.
• Decreased synthesis of surfactant resulting in collapse (atelectasis)→intrapulmonary shunting
• Causes: Prematurity, Maternal diabetes, Cesarean Section-lack of stress-induced ^^ in cortisol from vaginal delivery
• Gross: Purple-Red Lungs, liver-like, ruddy; Microscopic: Alveoli lined by hyaline membranes.
• Formerly called hyaline membrane disease.
• Due to an inadequate supply of surfactant at birth which can be related to deficient surfactant production or failure of Type II pneumocytes to develop and mature.
• Signs include cyanosis and labored breathing, caused by inability of pulmonary alveoli to expland or remain open after inspiration.
• Require more pressure to inflate.
• Diffuse atelectasis occurs initially and progresses.
• The lack of oxygen damages endothelial cells and pneumocytes → exudation of a fibrinous matrix from the blood→matrix accumulates & creates a thick "hyaline membrane" lining the alveoli
• Hyaline membranes are formed within a half hour after birth.
• Some healing or regeneration of Type II cells can occur within 36-72 hours.
• Type II cells then give rise to type I
• Good ratio- Lecithin: Spingomyelin 2:1
α1-Antitrypsin Deficiency leading to Emphysema
• Emphysema – Permanent enlargement of alveoli or air spaces, caused by obstructed air flow & destruction of the alveolar wall
• Wall of pulmonary vessels thickens
• Alpha 1-antitrypsin (produced in liver) inactivates neutrophil elastase
• Defect in α-1-AT →Elastic fibers are replaced with CT → Emphysema
• Elastin proteins are in the alveolar septa
• Most common cause is smoking cigarettes
ARDS – Adult Respiratory Distress Syndrome
• Smoking → inflammation →Neutrophils Secrete elastase (protease) →Elastin in wall degraded
• hyaline membranes appear
Atelectasis
• loss of lung volume due to inadequate/incomplete expansion of air spaces (collapse of alveoli)
Early Stages of Acute Pneumonia
Pneumonia= inflammation of the lungs
Alveoli fill with exudates containing wbcs (mainly neutrophils) and rbcs= hepatization
The lung has enlarged, congested capillaries giving it a red color; firm, heavy
alveoli are dysfunctional because they are swollen w/ neutrophils, rbcs, and fibrin
Mesothelioma
• malignant tumor that originates in the mesothelial lining of the serous membranes (pleura, peritoneum, pericardium).
• 90% of malignant mesotheliomas are pleural mesotheliomas.
• Pleural mesothelioma is associated with long time exposure (25 to 40 yrs) to asbestos.
• can spread to pericardium and diaphragm and invade the subpleural lung tissue and metastasize to any organ.
• Imaging of the thorax detects thickening of the pleura and/or asbestos plaques.
• No etiologic relationship with smoking.
• Symptoms include pleural effusion (abnormal liquid in the pleural space), chest pain, dyspnea
Bronchiectasis
• Permanent dilation of the bronchi and bronchioles, due to destruction of cartilage and elastic tissue by an infection;
• Causes: CF, TB, obstruction by a carcinoma, primary ciliary dyskinesia;
• Most common in lower lobes
• Note dilated airways, some filled with pus
CC16 Protein
• Clara Cell Secretory Protein 16 is a measurable marker in bronchoalveolar lavage fluid and serum
• Secretion of CC16 into the bronchial tree decreases during lung injury because of damage to Clara cells whereas serum levels of CC16 may increase because of leakage across blood-air barrier.
Atherosclerosis
• Disease of large & muscular arteries
• Accumulation of smooth muscle cells, CT, & lipids in the intima
• Macrophages & smooth muscle cells accumulate lipid (mostly LDL)
• Foam cells- macrophages filled w/ lipid
• Fatty streaks- first sign of atherosclerosis, lesions in intima containing accumulations of lipid
• Fibrofatty plaque- necrotic core w/ cap of foam cells, smooth muscle cells, & lymphocytes
• Can cause ischemic heart disease, MI, stroke, gangrene of limbs
• Ischemic heart disease- imbalance b/t supply & demand of heart for oxygenated blood; most common cause is atherosclerosis; coronary arteries narrow due to fibrofatty plaques
Marfan Syndrome
• Fibrillin disorder
• faulty tunica media = vessels dissect
• Mitral valve disorders = prolapse or redundant
• Changes in chordae tendinae
• Most common cause of death- aortic dissection
Vessel Aneurysms
• A localized or diffuse dilation of an artery with a diameter at least 50% greater than the normal size of the artery;
• due to weakening of the vessel wall, followed by dilation and a tendency to rupture
• 2 causes are atherosclerosis and bacterial/fungal infection
• most common aneurysm in men > 55 is the abdominal aortic aneurysm.
• mycotic aneurysm- caused by fungi
• syphilitic aneurysm (aorta)- T. pallidum obliterates the vaso vasorum
Thrombosis
• Thrombus- intravascular mass attached to the vessel wall.
• composed of varying proportions of coagulation factors, rbcs, and platelets.
• Can be caused by endothelial cell injury, especially arterial thrombi
Embolism
• a detached mass (e.g. clot, fat, gas) carried by the blood to a distant site.
• lodge in various places: atrium, microvasculature throughout body, pulmonary system
Hypertension
• Aka high blood pressure > 140/90
• Occurs in 25% population
• Multiplication of smooth m. occurs and tunica media increases in thickness, smooth m. cells accumulate lipid;
• Lumen is reduced
• intimal thickness occurs in fat-free diet;
• cardiac m. cells increase in size and number (hyperplasia) thus walls are less elastic & require more work to pump blood
Aschoff body
• typical lesion of rheumatic myocarditis.
• Consists of degenerated collagen surrounded by lymphocytes, plasma cells, and histiocytes.
• Amongst these cells the Anitschkow cell is found; this cell is a large histiocyte and may be multinucleated.
• It has a ribbon-like or caterpillar-like nucleus and the nucleus is quite evident, like an owl’s eye
Raynaud’s phenomenon
• reversible ischemia of peripheral arterioles usually involving fingers and toes
• skin arterioles go into vasospasm
• associated with another illness or secondary to another disease and the most common is an autoimmune disease
Lymphedema
• a defect in the transport of lymph because of abnormal lymphatic vessel development or damaged lymphatic vessels
• accumulation of fluid and proteins in the ECM or interstitial spaces leads to lymphedema
• chylothorax ( an accumulation of high fat containing lymph or chyle in the thorax) can be the result of abnormal development of lymphatic vessels or it can be the result of obstruction, trauma.
• How fast can chyle accumulate in the thorax or pleural cavity if the thoracic duct is lacerated by accident or lung surgery? 75-300mL/hr
Giant cell arteritis (GCA)
• GCA is also called temporal arteritis, cranial arteritis, and granulomatous arteritis.
• GCA is a systemic inflammatory vasculitis of unknown etiology that affects medium- and large-sized arteries.
• It is a disease of the over 50 age group and can result in a wide variety of systemic, neurologic, and ophthalmologic complications.
• Visual loss is one of the most significant causes of morbidity in GCA.
• Permanent visual impairment may occur in as many as 60% of patients.
• GCA typically involves inflammation of the aortic arch and its branches, but almost any artery of the body as well as some veins may be affected occasionally.
• The inflammation tends to involve the arteries in a segmental or patchy manner, although long portions of arteries may be involved.
• The likely determinant of arterial susceptibility to GCA is the presence and/or quantity of internal elastic lamina within the vessel wall.
• For example, intracranial cerebral vasculature is not affected in GCA because these vessels lack an internal elastic lamina.
• The extracranial vertebral arteries, superficial temporal arteries, posterior ciliary arteries, and ophthalmic arteries are the most commonly involved arteries.
• GCA reveals inflammatory infiltrate surrounding a fragmented internal elastic lamina within the media of an arterial wall.
• The infiltrate consists predominantly of mononuclear cells with giant cell formation
High levels of ET-1 gene expression
• Sustained endothelium-induced vasoconstriction
• Endothelins (at last 3 members) can be produced by other agents that bind to endothelial cell surface or they can have their own binding sites on both endothelial cells and smooth muscle cells.
• results include systemic hypertension.
Peptic ulcers
• Open sores on lining of stomach, small intestine and/or esophagus
- can result in internal bleeding and if they penetrate organ wall→peritonitis
• (inflammation of peritoneum); scar tissue
• Burning pain from breastbone to navel; worse when stomach is empty; improves with food that buffers stomach contents
• Majority due to bacterial/fungal infection (ex: H. pylori); medication (NSAIDS)
- 1/5 people under age of 30 infected;  ½ over age of 60 infected
- Smoking, stress, and spicy foods can aggravate but not cause
- NSAIDS= non-steroidal anti-inflammatory drugs- ex: indomethacin; side effect is gastric ulcers
• Treatment: appropriate antibiotics or antifungals; proton-pump inhibitors; antacids
Pernicious anemia
• Disruption of formation of RBCs in bone marrow due to deficiency in vitamin B12
• Can be caused by autoimmune gastritis  antibodies against the H+/K+ATPase   HCl in gastric juice (achlorhydria) and lack of synthesis of intrinsic factor
• Onset usually after age 30; 2% of 60 or older have pernicious anemia
• Treatment: monthly injection of vitamin B12
Zollinger-Ellison syndrome
• Gastrin-secreting tumors (aka gastrinomas) of pancreas
• Hyperplasia and hypertrophy of fundic region
• High acid secretion independent of food ingestion
• Complications include: fulminant (sudden onset) stomach ulceration, diarrhea (gastrin causes inhibition of water and electrolyte absorption in intestine), steatorrhea (inability to absorb fat due to inactivation of pancreatic lipase by low pH), and hypokalemia (lower than normal level of K in blood)
• H+ secretion continues regardless of [H+] of stomach since pancreatic gastrin isn’t regulated by negative feedback
• Gastin→^^ HCl produced by parietal cells→peptic ulcers in unusual areas of stomach & duodenum
• Resistant to treatment, keeps returning; treatments: proton-pump inhibitors, surgery
• Rare 1/1,000,000
Gastric reflux (Barrett’s Esophagus)
• Due to extensive gastroesophageal reflux – low pH enzymes in esophagus;
• symptoms include heartburn, indigestion, or gas; burning sensation below & behind the breastbone (sternum)
• treatment – antacids & acid-blocking drugs
• due to a change in epithelium of esophagus (stratified squamous  simple columnar)
• Patients at high risk for esophageal adenocarcinomas (risk is 30 – 125X higher); usually found late and thus not curable
• No improvement by blocking acid secretion
Gluten enteropathy
Enteropathy= pathology of the intestine
• Results from destructive effects of certain glutens (esp. rye & wheat) on intestinal villi
• Reduces surface area available for absorption
• Treated by eliminating wheat and rye products from diet
• Seen as failure to thrive in infants
Inflammatory Bowel Disease
• Inflammatory bowel disease includes: ulcerative colitis & Crohn’s disease
• Clinically characterized by diarrhea, pain, and periodic relapses
• Ulcerative colitis can affect mucosa of LARGE intestine
Crohn’s disease affects ANY segment of intestinal tract (small & large)
• Chronic inflammatory process, with immune system cells (lymphocytes, neutrophils, and macrophages) producing cytokines damaging intestinal mucosa, progressing into submucosa and muscularis externa;
• Granulomas (lymphocyte aggregates) are a typical feature; they obstruct intestines
• Complications include: occlusion of intestinal lumen by fibrosis, formation of fistulas & intestinal perforation, obstructed bowels, deep ulcers in gut wall, malnutrition
• Can be an autoimmune disease
• Onset: adolescence/early adulthood
• Symptoms: diarrhea, severe abdominal pain, nausea, fever, weakness, chills, anorexia,
• weight loss
• No cure; treat with corticosteriods, antibiotics, & anti-inflammatories;
- immunosuppressives if due to auto-immune disease
Hirschsprung’s disease (congenital megacolon)
• Caused by mutation in 1 – 4 genes preventing migration & differentiation of neural crest cells into neurons of ENTERIC nervous system
• AKA aganglionosis
• Aganglionic segment is permanently contracted (non-peristaltic)& therefore does not allow entry of contents resulting in abnormal form of constipation
• Shortly after birth infant abdomen becomes distended & little meconium is eliminated
• Biopsy of mucosa and submucosa confirms diagnosis- thick and irregular nerve bundles and lack of ganglion cells
• Treatment: surgical removal (pull-thru) of non-innervated region of colon
• Symptoms: delayed initial bowel movement in newborns, vomiting, constipation, abdominal distension, possible rupture of cecum
Colorectal carcinoma
• Second highest cause of cancer death in US (3rd most frequent in men; 2nd in women); 140,000 cases diagnosed in US yearly; usually 55 or older affected
• Usually arises from adenomatous polyps; may be asymptomatic for years; rectal bleeding frequently present
• Probably diet-related (high-fat, refined carbohydrates and low in fiber)
• Treatment: surgery with or without chemo and radiation therapy
Diverticulosis/Diverticulitis
• Diverticulosis - herniation of muscle wall of colon; mucosa and/or submucosal layers protrude thru weak sites in muscle wall
• Diverticulitis – inflammation at site of diverticulosis
• Affects 10% of US population > 40 years of age; by 60 and over ~ 50% of US population affected
• Symptoms: abdominal pain and tenderness in left lower side of abdomen; cramping, nausea, vomiting, fever, chills, change in bowel habits; complications include bleeding, infections, perforations, blockage of colon
• Dominant theory of cause – consumption of low-fiber diet
• Treatment – increase fiber in diet
Appendicitis
• Inflammation of appendix due to blockage or previous infection
• Symptoms: abdominal pain that originates in navel and shifts to lower right abdomen; pain increases over 12 – 18 hours becoming severe
• Complications – rupture of appendix leading to abscess and/or peritonitis
• Treatment – surgical removal
Internal hemorrhoids
• enlargements of superior rectal artery & rectal venous plexus
• related to increased venous pressure in portal circulation
• 75% of all people will develop & average age is 45-65.
• causes: low fiber diet, breakdown of CT d/t aging, pregnancy d/t increasing abdominal pressure, increased venous portal pressure
• symptoms: bright red blood on stool, toilet paper, or in toilet following BM; pain, discomfort
• usually resolve on own with diet &/or lifestyle changes to treat cause
Salivary Gland Tumors
• 80% are benign
• most originate in parotid glands
• most are pleomorphic containing ducts, CT elements (ground substance and collagen), and myoepithelial cells
- Pleomorphic= mix of epithelial & CT cells
• most common treatment is surgical removal
Sjögren Syndrome
• major symptoms are xerostomia (dry mouth) and dry, gritty eyes;
• component of systemic disease, second most common autoimmune disease,
• female dominant
• seen in 10% adult population
• inner lip biopsy for diagnosis; positive test if there are aggregates of 50 lymphocytes/4mm2 of mucous acini gland
• lymphocytes eventually replace acini
Acute pancreatitis
• Sudden inflammation of the exocrine pancreas that results from injury to acinar cells.
• Acinar cell injury and duct obstruction are the major initiators
• Some causes: (1) secretion against obstruction (gallstone); (2) inappropriate activation of proenzymes; (3) AIDS; (4) ethanol
• Most common causes are alcohol abuse and bile duct obstruction.
Cystic Fibrosis (CF)
• 80% of CF patients have visible secretory abnormalities of the pancreas;
• CF causes mucous inspissation in ducts and secondary atrophy of exocrine glands,
• atrophy of glands due to blocked lumens
Centrilobular Necrosis
• Hepatocytes in Zone 3 (closest to central vein) undergo ischemic necrosis, in for example, congestive heart failure when they do not receive proper oxygen.
• No changes of cells in Zones 1 and 2
• This disease supports the liver acinus theory of liver lobulation
Alcoholic hepatitis
• swollen (balloon cells) hepatocytes in centrilobular region,
• Mallory bodies in hepatocytes
• neutrophils present
• collagen deposited (fibrosis) around central vein
• some hepatocytes become fat cells
Cirrhosis
• Death of hepatocytes leading to scarring or increased production of collagen destroying normal architecture.
Cholecystitis
• Gallstone impacted in cystic duct leading to:
- thickened muscular layer due to trying to overcome pressure,
- impaired breakdown of fat,
- high pressure in gall bladder rearranges mucosa
Role of hepatic stellate cells in portal hypertension
• hepatic stellate change function/type to lay down matrix and affect sinusoids
• Lose storage function and begin to produce collagen and ECM material; also convert to myofibroblasts and constrict sinusoids.
• Matrix increase and constriction leads to portal hypertension
α-1 Anti-trypsin (AAT) deficiency
• AAT is produced in the liver and one of its functions is to protect the lung from neutrophil elastase activity (review lung 10 in 10)
• 50% of patients will develop liver cirrhosis.
• The ATT accumulates in the liver in PAS positive globules.
• Treatment for AAT deficiency is pooled AAT given intravenously and liver and lung transplantation
Cholelithiasis
• formation of gallstones from bile, cholesterol (most common), iron (from rbcs) breakdown.
• at least 2 types of stones
• gall bladder operation is most common in N. America