Test #2 Flashcards
Failure of development of a bone; congential absence of a rib or clavicle or fingers or toes
Adactyly
A congenital abnormality characterized by an absence of upper or lower extremities or both
Amelia
Fusion of the fingers or the toes
Syndactyly
Development of long “spider-like fingers”; classic feature of Marfan’s syndrome; also observed in various disorders involving gnees that encode extracellular matrix proteins as in Ehlers Danlos Syndrome
Arachnodactyl
Type of dwarfism that is caused by a deficiency of thyroid hormones
Cretinism
This type of dwarfism is associated with pituitary abnormalities
Growth Hormone secretion (deficiency?)
This type of dwarfism is caused by a deficiency of growth hormone receptors
Laron-type dwarfism
A congenital form of dwarfism caused by abnormal formation of epiphyseal growth plates of long tubular bones
Achondroplasia
The deficit for Achondroplasia lies in genes encoding for what?
Fibroblast Growth Factor Receptor-3
Individuals with this disorder have short limbs, normal trunks, & relatively large heads. Longevity, intelligence, or reproductive status are not affected
Achondroplasia
This type of dwarfism usually causes death at birth or shortly thereafter. Caused by mutation of FGFR-3
Thanatophoric Dwarfism
Charateristics of Thanatophoric dwarfism
shortening of limbs, relative macrocephaly, small chest cavity, bell-shaped abdomen
Disorder where too little bone is formed due to a mutation of the genes encoding the chains of Type I collagen
Osteogenesis Imperfecta
A genetic disorder characterized by abnormal thickening of bones
Osteopetrosis AKA Marble Bone Disease AKA Albers-Schonberg Disease
Osteopetrosis is caused by?
An undefined defect in the juntion of osteoclasts, which do not reabsorb the bone
Osteopetrosis causes obliteration of the marrow space which leads to what?
anemia
A deficiency of this enzyme in osteopetrosis keeps osteoclasts from solubilizing hydroxyapatite crystals
Carbonic anhydrase II
Type of osteopetrosis where mutation in the genes causes osteoclast dysfunction by interfering w/ what?
chloride channels
A disease characterized by increase porosity of the skeleton resulting from reduced bone mass
Osteoporosis
Most common forms of osteoporosis?
Senile & post menopausal
What two endocrine diseases are assoc. w/ osteoporosis?
Cushing syndrome & hyperthroidism
Literally means “lack of bone”; radiologic term used to denote a decreased amount of bone visible on x-ray
Osteopenia
Characterized by a defect in matrix mineralization related most often to lack of or disturbance of metabolism of Vit. D
Rickets (children)/Osteomalcia (Adults)
Miscellanceous bone disease of uncertain cause; characterized by a “collage of matrix madness”; caused by slow viral infection of paramyzovirus
Osteitis Deformans (Paget’s Disease)
Paget’s Disease can cause bone overgrowth can cause the bone to be heavier than normal which will lead to what?
Secondary osteoarthritis
What levels are elevated in Paget’s disease?
Blood alkaline phosphoatase
Symptoms for Paget’s Disease are readily suppressed by what?
Calcitonin & biphosphonates
Assoc. w/ increased bone resorption of cortical bone & replacement of bone trabeculae w/ fibrous tissue
Osteitis Fibrosa Cystica AKA Von Recklinghausen Disease AKA Hyperparathyroidism
The most typical changes in Osteitis Fibrosa Cystica are seen where?
Middle phalanges of the index & middle fingers
Bone loss in Osteitis Fibrosa Cystica leads to microfractures & secondary hemorrhages that elicit an influx of multinucleated macrophages & an ingrowth of fibrous tissue creating what?
Brown tumor
What is the hallmark of severe hyperparathyroidism?
Increased bone cell activity peritrabecular fibrosis & cystic brown tumors
Skeletal changes of chronic renal disease such as increased osteoclastic bone resorption mimicking Osteitis Fibrosa Cystica, delayed matrix mineralization, osteosclerosis, growth retardation, & osteoporosis
Osteodystrophy
Two major types of osteodystrophy
High turnover osteodystrophy & Low turnover disease (aplastic)
Osteodystrophy is found in what type of patient?
Chronic renal dialysis patient
Osteodystrophy causes deposits of what two substances?
Aluminium & amyloid (derived from beta-2-microglobulin)
Osteonecrosis can be caused by?
mechanical vascular interruption (fracture, corticosteroids, thrombosis & embolism, vessel injury, increased interrosseous pressure, venous hypertension
These type of infarcts cause chronic pain
Subchondral infarcts
These type of infarcts are silent except for large ones
Medullary infarcts
Results from bacterial seeding of bone by hematogenous spread, extension from contiguous infection, & open fx of surgical procedure
Pyogenic Osteomyelitis
Organism that usually causes Pyogenic Osteomyelitits?
Staph. Aureus
Patients w/ sickle cell anemia are prone to what type of infection?
Salmonella infection
TB osteomyelitis of the spine is known as what?
Potts Disease
Congenital form of syphilitic bone disease appears at birth & is marked by what?
Periostitis
Congenital form of syphilitc bone disease gives what appearance on xray?
Crew-haircut like appearance & new bone formation on cortex
Saber shin of the tibia is seen with which type of Syphilitic bone disease?
Congential
The acquired form of syphilitic bone disease appears in what form & is manifested by what in the bone?
Tertiary form; gummas
Results from incompletely healed or persistent suppurative acute infection (draining sinus tract has developed)
Chronic osteomyelitis
Lytic enzymes from the inflammatory cells cut channels through the bone leading to the formation of bone fragments that ultimately detach from the main bone. This is known as what?
Sequestrum
Wall of the abscess cavity is composed of newly formed bone which is known as?
Involucrum
Hat size may increase with this disease?
Paget Disease (Osteitis Deformans)
Paget’s is characterized by what?
“Collage of matrix madness”; periods of severe osteoclastic activity followed by hectic bone formation which is laid down in a disorderly fashion which is architecturally unsound
Paget’s disease may lead to what?
Severe secondary osteoarthritis
Paget’s disease increases the risk for what?
Osteosarcoma
Paget’s Disease (Osteitis Deformans) is caused by a slow viral infection by what virus?
Paramyxovirus
How does paramyxovirus affect osteoclasts?
Enters cytoplasm & nucleus increasing their resorptive activity
High-output cardiac failure in Paget’s results from what?
Multiple functional arteriovenous shunts w/i highly vascular early lesions
Hearing loss in Paget’s is caused by what?
Narrowing of the auditory foramen or direct involvement of the bones of the middle ear
Paget’s increases what enzyme’s activity?
serum alkaline phosphatase
Osteopetrosis is AKA what?
Marble bone disease, Albers-Schonberg disease
What is osteopetrosis?
Genetic disorder characterized by abnormal thickening of bones
What is the cause of osteopetrosis?
Unidentified defect in the function of osteoclasts causing them to not reabsorb bone
How does osteopetrosis cause anemia?
Bones grow but don’t remodel which lead to obliteration fo bone marrow spaces resulting in anemia
Fibrous replacement of resorbed bone may lead to formation of non-neoplastic tumor-like masses known as?
Brown tumor
Brown tumors are due to what?
Hyperthyroidism; high levels of PTH leads ot cystic changes in bone due to osteoclastic resorption
The brown color of a brown tumor is due to what?
Vascularity, hemorrhage, & hemosidirin deposition
Hyperparathyroidism is AKA?
Osteitis fibrosa cystica & Von Recklinghausen disease of bone
Almost all joint arthropathies are assoc. w/ what?
Inflammation
Two types of osteoarthritis AKA DJD
Primary DJD & Secondary DJD
This type of DJD most often occurs after 50 years of age w/o an obvious cause
Primary DJD
This type of DJD occurs in joints damaged by known mechanisms, including mechanical factors (trauma), congenital malformation, metabolic injury of chondrocytes (cartilage cells)
Secondary DJD
Fragmented cartilage which may float freely in the articular cavity
Joint mice
The biochemical changes in DJD mainly involve what?
Proteoglycans (mucopolysaccharides)
Bone that appears like ivory
Bone eburnation
These are produced by reactive bone formation at the margins of the joint
Osteophytes
Osteoblasts develop when the mysenchymal tissue of the synovium does what?
Differentiates into osteoblasts & chondroblasts to form a mass of cartilage & bone
Osteophytes may cause compression of?
Cervical & lumbar nerve roots causing pain, muscle spasms, & neurological deficit
Osteophytes are the base of the distal interphalangeal joints are called?
Heberden nodes
Osteophytes at the proximal interphalangeal joints are called?
Bouchard nodes
Clinical features of osteoarthritis
Deep aching pain w/ movement of joints along w/ stiffness
Morning joint stiffness for less than 30 mins
Joint pain is often worse later in the day w/ activity
Pain relieved by rest
Restricted joint motion
Crepitations
Reactive bone formation at the margins of the joints produces osteophytes
This is a systemic disease of unknown etiology that is assoc. w/ chronic inflammatory disorder primarily affecting the synovial joints but other organs of the body can be affected as well
Rheumatoid arthritis
Joints that are typically involved in RA
Small hand joints, especially prox. interphalangeal & metacarpophalangeal joint, foot joints, especially the metatarsophalangeal joint, wrist & elbows
Important genetic locus that predisposes to RA?
Human Leukocyte Antigen (HLA) II Genes; especially a specific set of HLA-DR alleles DR4, DR1, DR10, DR14
Whats the ratio of men to women affected by RA?
Women affected more than men 3:1
Typically disease onset occurs when?
b/w 30-60 years
What % of pts w/ classic RA are positive for Rheumatoid Factor (RF)?
80%
Rheumatoid Factor represents which antibodies?
Mostly IgM, but sometimes IgG or IgA
The presence of IgG type RF is sometimes assoc. w/ what?
Development of necrotizing vasculitis
What test is most commonly employed for the diagnosis of RA?
Anticyclic Citrunillated Protein Antibody (anti-CCP) test
How often is the anti-CCP test positive (sensitivity)?
about 67% of cases (about roughly the same as seen in RF)
Why is the anti-CCP test important?
Rarely positive in the absence of RA (high specificity)
What is vimentin?
Vimentin is secreted & citrullinated by macrophages in response to apoptosis, or by proinflammatory cytokines, such as tumor necrosis factor-alpha (TNF-alpha)
A manifestation of lymphoplasmacytic lymphoma, a B-cell neoplasm of lymphoid cells of an intermediate stage b/w B lymphocytes & plasma cells referred to as plasmacytoid lymphocytes
Waldenstrom macroglobulinemia
What makes Waldenstrom macroglobulinemia unique?
The neoplastic cells produce a monoclonal IgM immunoglobulin of either kappa or lambda specificity occurring as an M protein
Light skinned individuals develop darkening of the skin
Kala azar
What does Kala azar mean?
Black sickness
What organisms cause Kala azar?
Leishmaniae (protozoans) that are transmitted to humans by insect bites (Sandflies)
What are the symptoms of Kala azar?
Unrelenting fever, progressive weight loss, enlarged spleen & liver, anemia, thrombocytopenia, & leukopenia
Fibrin that aggregate into small bodies is known as what?
Rice bodies
Lymphocytes that aggregate into lymphoid follicles is known as?
Allison-Ghormley bodies
Due to contraction of the scarred joint capsule, chronic RA leads to typical joint deformities known clinically as what?
Opera Glass deformity
This covers articular cartilage & isolates it from synovial fluid
Pannus
Pannus erodes the articular cartilage & adjacent bone probably through secretion of what?
Collagenase
When a joint gets destroyed & undergoes fibrous fusion, it’s called what?
Ankylosis
What is bony ankylosis?
Long-term cases of RA may lead to bony bridging of the joint
Where are rheumatoid nodules most often located?
Extensor side of the forearm
Diseases that involve the joints of the vertebral columns
Spondyloarthropathy
Syndrome composed of seronegative arthritis, urethritis, conjunctivitis
Reiter’s Syndrome
Form of arthritis seen in Whipple diseae?
Enteropathic artritis
Type of arthritis that follows genital infections & most frequently involves the knee; most often monoarticular
Gonococcal arthritis
This arthritis is caused by infection w/ Borrelia burgdorferi which is transmitted to humans via Ixodes dammini tick
Arthritis of Lyme Disease
Name of the skin lesions in the first stage Lyme disease?
Bull’s-eye lesion
This arthritis is caused by staph. or mixed bacteria that may be encountered in immunosuppressed drug addicts prone to septicemia
Suppurative arthritis
A chronic, progressive, monoarticular arthritis that affects weight-bearing joints. Systemic symptoms may or may not be present
Tuberculous arthritis
A form of non-inflammatory arthritis characterized by progressive joint destruction due to a primary neurological disorder such as peripheral neuropathy or central motor abnormality
Neuropathic Joint disease (Charcot Joint)
Small cystic nodule arising in the tendon sheath or the joint capulse of the wrist is thought to be caused by myxoid degeneration of connective tissue
Ganglion cyst
Assoc. of the pulmonary rheumatoid nodules w/ other pneumoconioses, such as silicosis or asbestosis
Caplan’s Syndrome
Metabolic disease characterized by hyperuricemia w/ plasma uric acid level of more than 7mg/dl
Gouty Arthritis
Type of gout that is idiopathic and accounts for approx. 90% of all cases of gout
Primary gout
Type of gout that is occurs as a complication of other diseases
Secondary gout
Disease caused by lead nephropathy
Saturnine gout
Urate crystals in a protein matrix surrounded by fibrous connective tissue, demonstrating a foreign body giant cell reaction; located about joints, in the helix, & antihelix of the ear
Tophi
Competitive inhibitor of anthine oxidase, the enzyme that converts xanthine & hypoxanthine to uric acid
Allopurinol
Calcium Pyrophosphate Dihydrate Deposition Disease is AKA?
Pseudogout or Chondrocalcinosis
Heritable condition in which activity of alkaline phosphatase in serum & tissue is deficient
Hypophosphatasia
Passive transplacental transfer of IgG antibodies from the mother w/ lupus
Neonatal Lupus sydrome
Chronic skin disease characterized by well demarcated, erythmatous discoid plaques, typically on the face & scalp but w/o systemic symptoms
DISCOID Lupus erythmatous
Disease where lesions of the embryonic CNS predominate in the periventricular areas & are characterized by necrosis & calcification
Cytomegalovirus Encephalitis
A relentlessly destructive focal disease caused by JC virus; classic feature is a peripheral area of demylination that contains enlarged oligodendrocytes
Progressive Multifocal Leukoencephalopathy
An uncommon disease that affects children several years after a known attack of measles. Characterized by degeneration of neurons in the cerebral gray matter & basal ganglia
Subacute Sclerosing Panencephalitis (SSPE)
Slow virus that consists of protein only (no nucleic acid)
Prions
Most common form of human prion disease w/ predominant symptom of dementia & possibly ataxia
Creutzfeldt-Jakob Disease
Type of CJD that accounts for about 75% of all cases; cause is not known
Sporadic CJD
Characterized by a profound disturbance of sleep-wake dysfunction are common; dysautonomia, abnomral endocrine function, & cerebral dysfunction are common; caused by point mutation in codon 178 of the PRNP gene
Inherited CJD: B2-Fatal familial Insomnia
A condition in which a disagreeable sensation is produced by ordinary stimuli
Dysesthesias
Occurs mainly in cannibalistic tribes of Papua, New Guinea, where the disease is believed to be transmitted by eating brain tissue of infected humans
Kuru
A systemic granulomatous disease of unkown cause, especially involving the lungs w/ resulting fibrosis, but also involving lymph nodes, skin, liver, spleen, & pharyngeal bones & parotid glands
Sarcodosis
A condition resulting from widespread dissemination of carcinoma in multiple sites in various organs or tissues of the body
Carcinomatosis
Inflammation of the intima of an artery
Endoarteritis
Microglia in elongated forms encrusted w/ iron
Rod cells
Inflammation of the cellular membrane lining the central canal of the spinal cord & the brain ventricles
Nodular ependymitis
An indefinite term applied to nodular inflammatory lesions, usually small or granular, firm, persistent, & containing compactly grouped mononuclear phagocytes
Granuloma
Protozoa parasite that has its definitive cycle in the intestines of cats
Toxoplasma gondii
Mosquito-borne, hemolytic, febrile illness
Cerebral malaria
AKA sleeping sickness
African trypanosomiasis
Due to the larval form of Taenia solium, the pork tapeworm
Cysticercosis
Due to the larval form of Echinococcus granulosus
Hydatid cyst
Due to Entamoeba histolytica which causes brain abscess
Amebiasis
Star-shaped cells w/ a process containing bundles of fibrils composed of glial fibrillary acidic protein; process extends into the surrounding tangled network of unmyelinated nerve fibers
Astrocytes
Form myelin sheathes around axons in the CNS by enveloping them w/ concentric layers of plasma membrane; can be distinguished from astrocytes by having fewer & thinner processes; they don’t possess gap junctions
Oligodendrocytes
Smaller glial-type cells of uncertain origin that act as scavenger cells
Microglia
Inherited disturbances in the formation & preservation of myelin
Leukodystrophies
An autosomal recessive disorder of myelin metabolism that is characterized by the accumulation of cerebroside (galactosyl sulfatide) in the white matter of hte brain & peripheral nerves; M/C leukodystrophy
Metachromatic leukodystrophy
A rapidly progressive, invariably fatal, autosomal recessive disorder, caused by a deficiency of galactocerebroside beta-galactosidase; defined by the presence of perivascular aggregates of mononuclear & multinucleated “globoid cells” in the white matter
Krabbe Disease AKA Globoid Cell Dystrophy
Macrophages that contain undigested galactocerebroside (galactosylceramide)
Globoid cells
An X-linked (Xq28) inherited disorder in which dysfunction of the adrenal cortex & demyelination of the nervous system are assoc. w/ high levels of saturated very-long-chain fatty acids in tissues & body fluids
Adrenoleukodystrophy
A rare, neurological disorder of infants, characterized by a loss of myelin in the brain & a striking accumulation of irregular, extracellular fibers (known as Rosenthal fibers) in astrocytes; caused by mutations in the gene encodgin Glial Fibrillary Acidic Protein
Alexander Disease
A rare group of diseases believed to have a pathogenesis similar to that of experimental allergic encephalomyelitis
Acute Disseminated Encephalomyelitis
M/C cause of dementia in the elderly; most often presents w/ subtle onset of memory loss followed by a slowly progressive dementia that has a course of several years
Alzheimer’s Disease
Any one of a series of two or more different genes that may occupy the same position (or locus) on a specific chromosome
Allele
An extremely uncommon cause of presenile dementia, occurring in the age group of 40-65 yrs; Hallmark is symmetric lobar atrophy of temporal &/or frontal lobes which can be visualized by neuroimaging studies & is readily apparent at autopsy
Pick’s Disease
Swollen or ballooned surviving neurons which frequently contain silver-staining cytoplasmic inclusions referred to as?
Pick bodies
Characterized by proteinaceous tissue deposits w/ common morphological, structural, & staining properties but w/ variable protein composition
Amyloidosis
A rare disease that is inherited as an autosomal dominant trait characterized by involuntary movements of all parts of the body, deterioration of cognitive dysfunction, & often severe emotional disturbance
Huntington’s Disease (Huntington’s Chorea)
Disease characterized by loss of neurons, primarily in substantia nigra & several other brainstem nuclei
Idiopathic Parkinson’s Disease
Intracytoplasmic rounded eosinophilic inclusion bodies that contain neuronal proteins, including alpha-synuclein
Lewy Bodies
A progressive encephalomyopathy involving the autonomic system, characterized by intractable hypotension, external opthalmoparesis, atrophy of the iris, incontinence, anhydrosis, impotence, tremor, & muscle wasting
Shy-Drager Syndrome
An inability to coordinate the muscle in the execution of voluntary movement
Ataxia
A degenerative disease of motor neurons of the brain & spinal cord that results in progressive weakness & wasting of the extremities & eventually impairment of the respiratory muscles
Amyotrophic Lateral Sclerosis
Deficiency of this nutrient causes pellagra
Niacin
3 D’s of pellagra
Dermatitis, Diarrhea, Delirium/Dementia
Vit. B1 deficiency causes what?
Beriberi
Vit. B6 causes what problems in children?
Irritability & seizures
Vit. B12 deficiency causes what?
Pernicious Anemia
This is characterized by peripheral dilation, warm, dry skin as well as decreased circulation time
Cardiac Beriberi
A consequence of thiamine deficiency, a nutritionla deficiency commonly found in chronic alcoholics
Wernicke-Korsakoff syndrome
This is a rare complication characterized by focal areas of selective ,myelin loss w/i the pons
Central pontine myelinolysis
A rare complication chracterized by coagulative necrosis of midline structures. It is a degenrative process involving the corpus callosum that occurs predominantly in chronic alcoholics, particularly red wine drinkers
Marchiafava-Bignami disease
Autosomal recessive diseasee affecting copper metabolism
Wilson’s Disease
A greenish-yellow pigmented ring encircling the cornea just w/i the corneoscleral margin
Kayser-Fleishcer Ring
A deposition of bilirubin in the nuclei of the basal ganglia of neonates born w/ severe hemolytic anemia
Kernicterus
A multisystem hamartoma producing the typical triad of seizures, mental retardation, skin nodules of the face
Tuberous sclerosis
A focal malformation that resembles a neoplasm, grossly & even microscopically, but results from faulty development in an organ
Hamartoma
Disease where mutation of NF-1 gene has no effect on “ras” which leads to unopposed cell growth leading to tumor formation; classic form of the disease characterized by numerous neurofibromas in the skin & peripheral nerves assoc. w/ cafe au lait spots; results from abnormal gene on chromosome 17
Neurofibromatosis
Neurofibromatosis is AKA
von Recklinghausen’s Disease AKA Elephantiasis Neurofibromatosa AKA Elephant Man Disease
M/C primary brain tumor in adults
Glioblastoma multiforme
M/C primary malignant brain tumor in children
Medulloblastoma
Cell of origin for an astrocytoma, oligodendroglioma, ependymoma, glioblastoma
Glial cells
Cell of origin for a medulloblastoma & neuroblastoma
Primitive neuroectodermal cells
Cell of origin for a meningioma
Arachnoidal cell
Cell of origin for a schwannoma & neurofibroma
Nerve sheath cells
Cell of origin for a lymphoma
lymphoreticular cells
Any neoplasm derived from one of the various types of cells that form the interstitial tissue of the brain, spinal cord, pineal gland, or retina
Glioma
A Grade IV astrocytoma-a glioma consisting chiefly of undifferentiated anaplastic cells that are precursors of astrocytes
Glioblastoma
Glioma composed of well-differentiated astrocytes; commonly arise in the cerebellum in children & in the cerebral hemispheres in adults
Astrocytoma
A neoplasm of children & adolescents & accounts for 25% of intracranial neoplasms in children under 10 yrs. M/C occurs in the cerebellar hemispheres & can be resected completely as these tumors are extremely well circumscribed
Juvenile Pilocytic Atrocytoma
Uncommon tumor that affects adults (30-50yrs) & occurs most often in cerebral hemispheres. It’s a well-circumscribe slowly growing tumor.
Oligodendral Glioma
Tumor is derived from ependymla cells lining the ventricle & spinal canal. Occurs at all ages, but is relatively more common in children
Ependymoma
Malignant tumor derived from neuroectodermal cells. Childhood tumor, it is extremely rare after the age of 40 yrs. Involves vermis of cerebellum in children; in older individuals it may involve the cerebellar hemispheres
Medulloblastoma
Benign tumor originating from arachnoid cells (meningothelial cells) of the leptomeninges. Occurs most frequently in middle-aged women
Meningioma
A benign tumor composed of endothelial cells forming small blood vessels surrounded by lipid-laden cells
Hemangioblastoma
Autosomal dominant cancer syndrome characterized by the development of hemangioblastomas in the brain, retinal angiomas, clear cell renal cell carcinoma, pheopchromocytoma, & cysts in various organs
von Hippel-Lindau disease
A tumor derived from Schwann cells, which produce both collagen & myelin
Schwannoma
Believed to be derived from Rathke’s pouch, the epithelial remnant of th eforegut that contributes to the origin of the pituitary gland. Occurs mainly in childhood in the suprasellar region adjacent to the pituitary stalk
Craniopharyngioma
