Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
393 Cards in this Set
- Front
- Back
|
Most human cancers, also called Li-Fraumeni syndrome
-what tumor suppressor gene and chromosome are lost? |
Tumor suppressor:p53 on 17p
-tumors accociated with abberation of this? |
|
|
Tumor suppressor:BRCA1 on 17q
-tumors accociated with abberation of this? |
Breast and ovarian cancer
-what tumor suppressor gene and chromosome are lost? |
|
|
Breast, ovarian, and gastric carcinomas - gain of function mutation
|
erb-B2 associated tumor
|
|
|
Gaucher's Dz
|
Deficient Enzyme: beta-glucocerebrosidase
Accumulated substrate: glucocerebroside Inheritance: AR S/S: hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher cells (macrophages that look like crumbled tissure paper) Most common lysosomal storage dz |
|
|
Urea Cycle
|
Carbamoyl phosphate synthase 1
|
|
|
Tumor marker suggesting
1) neuroblastoma 2) lung cancer 3) gastric cancer |
Tumor marker: Bombesin
|
|
|
Hereditary spherocytosis
AD or AR? |
AD
|
|
|
Fabry's Dz
|
Deficient Enzyme: alpha-galactosidase A
Accumulated substrate: Ceramide trihexoside Inheritance: XR S/S: peripheral neuropathy of hands/feet, angiokeratomas, CV/renal dz |
|
|
Multiple endocrine neoplasia (MEN) types II and III
|
ret associated tumor
|
|
|
Tumor suppressor:
DPC on 18q -tumors accociated with abberation of this? |
Pancreatic cancer
-what tumor suppressor gene and chromosome are lost? |
|
|
Cytotoxic T cells
(cell surface proteins) |
CD8, TCR, CD3
|
|
|
IL-6
|
Secreted by Th cells and macrophages.
Stimulates production of actue-phase reactants and immunoglobulins. |
|
|
Her's (Type VI)
|
S/S: hepatosplenomegaly, fasting hypoglycemia, childhood onset, usually asymptomatic
|
|
|
- defect in LFA-1 integrin proteins on phagocytes.
- presents early with recurrent bacterial infections, absent pus formation, and delayed separation of umbilicus |
Leukocyte adhesion deficiency syndrome (type 1)
|
|
|
Inheritance: AD
Findings: colon covered with adenomatous polyps after puberty. Progresses to colon cancer without resection Genetics: Deletion of APC gene on chrom 5 |
Familial adenomatous polyposis
|
|
|
Decreased production of:
B and T cells - defect in early stem-cell differentiation. - recurrent viral, bacterial, fungal, and protozoal infections - may have multiple causes (e.g. failure to synthesize MHC II Ags, defective IL-2 receptors, or adenosine deaminase deficiency) |
Severe Combined Immunodeficiency (SCID)
|
|
|
Tumor marker: beta-hCG
|
Tumor marker suggesting:
Hydratiform moles Choriocarcinomas Gestational trophoblastic tumors |
|
|
Krabbes Dz
|
Deficient Enzyme: Galactocerebrosidase
Accumulated substrate: Galactorcerebroside Inheritance: AR S/S: peripheral neuropathy, developmental delay, optic atrophy, globoid cells |
|
|
IL-2
|
Secreted by Th cells.
Stimulates growth of helper and cytotoxic T cells Stimulates T cells |
|
|
Neurofibromatosis Type 1
AD or AR? |
AD
|
|
|
x-linked recessive disorder
pneumonic: Be Wise, Fool's GOLD Heeds False Hope (Female carriers of x-linked recessive disorders are rarely affected because of random inactivation of X chromosomes in each cell) |
Brutons aggamglobinemia
Wiskott-Aldrich Fragile X G6PD deficiency Ocular Albinsm Lesch-Nyhan syndrome Duchennes muscular dystrophy Hunters syndrome Fabry's Disease Hemophilia A and B |
|
|
Tumor marker suggesting:
1) melanomas 2) neural tumors 3) astrocytomas |
Tumor marker: S-100
|
|
|
Chronic Granulomatous disease
|
- defect in phagocytosis of neutrophils owing to lack of NADPH oxidase activity or similar enzymes.
- presents with marked susceptibility to opportunistic infections with bacteria, especially S. aureus, and Aspergillus - diagnosis confirmed with negative nitroblue tetrazolium dye reduction test |
|
|
Secreted by Th cells and macrophages.
Stimulates production of actue-phase reactants and immunoglobulins |
IL-6
|
|
|
t(11;14)
|
Mantle cell lymphoma
|
|
|
Inheritance: AD
Pathology: Elevated LDL. Heterzygotes LDL = 300, Homozygous LDL (rare) = >700 S/S: Sever atherosclerotic disease early in life, tendon xanthomas (Achilles), MI before 20yo |
Familial hypercholesterolemia
|
|
|
Inheritance: AD
S/S: bilateral acoustic tumors, juvenille cataracts Genetics: NF2 gene on chrom 22 |
Neurofibromatosis type 2
|
|
|
S/S: hepatosplenomegaly, fasting hypoglycemia, childhood onset, usually asymptomatic
|
Her's (Type VI)
|
|
|
Melanoma
-what tumor suppressor gene and chromosome are lost? |
Tumor suppressor:
p16 on 9p -tumors accociated with abberation of this? |
|
|
De novo pyrimidine synthesis
|
Aspartate transcarbamylase (ATCase)
|
|
|
Gluconeogenesis
|
Fructose 1,6-bisphosphatase (FBP-1)
|
|
|
Decreased activation of:
T cells - presents with disseminated mycobacterial infections due to decreased Th1 response |
IL-12 receptor deficiency
|
|
|
Metachromatic leukodystrophy
|
Deficient Enzyme: Arylsulfatase A
Accumulated substrate: Cerebroside Sulfate Inheritance: AR S/S: Central and peripheral demyelination with ataxia, dementia |
|
|
Non-specific tumor marker produced by:
1) ~70% of colorectal and pancreatic cancers 2) gastric carcinomas 3) breast carcinomas |
Tumor marker: CEA
|
|
|
N-euroblastoma gain of function mutation
|
N-myc associated tumor
|
|
|
Colorectal cancer
-what tumor suppressor gene and chromosome are lost? |
Tumor suppressor:
APC on 5q -tumors accociated with abberation of this? |
|
|
Secreted by macrophages.
Mediates septic shock. Causes leukocyte recruitment, vascular leak. |
TNF
|
|
|
IL-10
|
Secreted by regulatory T cells.
Inhibits actions of activated T cells. |
|
|
sickcle cell anemia
AD or AR? |
AR
|
|
|
ret associated tumor
|
Multiple endocrine neoplasia (MEN) types II and III
|
|
|
hemochromatosis
AD or AR? |
AR
|
|
|
Diseases accociated with HLA-DR7
|
HLA subtype accociated with:
Steroid-responsive nephrotic syndrome |
|
|
t(11;22)
|
translocation accociated with Ewing's sarcoma
|
|
|
Fabry's disease
|
x-linked recessive disorder
|
|
|
IL-1
|
Secreted by macrophages
Causes acute inflammation Induces chemokine production to recruit leukocytes; activates endothelium to express adhesion molecules. An endogenous pyrogen |
|
|
abl associated tumor
|
CML (gain of function mutation)
|
|
|
Von Gierke's (Type I)
|
Deficient enzyme: Glucose-6-phosphatase
S/S: severe fasting hypoglycemia, very increased liver glycogen, increased blood lactate, hepatomegaly, renomegaly |
|
|
Tumor marker: Bombesin
|
Tumor marker suggesting
1) neuroblastoma 2) lung cancer 3) gastric cancer |
|
|
Fatty acid oxidation
|
Carnitine acyltransferase I
|
|
|
Breast cancer
-what tumor suppressor gene and chromosome are lost? |
Tumor suppressor:
BRCA2 on 13q -tumors accociated with abberation of this? |
|
|
bcl-2 associated tumor
|
Follicular and undifferentiated lymphomas (inhibits apoptosis) - (gain of function mutation)
|
|
|
HMP shunt
|
Glucose-6-phosphate dehydrogenase (G6PD)
|
|
|
Lesch-Nyhan syndrome
|
x-linked recessive disorder
|
|
|
Helper T cells
(surface proteins) |
CD4, TCR, CD3, CD28, CD40L
|
|
|
HLA subtype accociated with:
Pernicious anemia (B12 deficiency), Hashimoto's thyroiditis |
Diseases accociated with HLA-DR5
|
|
|
Deficient enzyme: skeletal muscle glycogen phosphorylase
S/S: increased glycogen in muscle, but no breakdown, painful muscle cramps, myoglobinuria with strenuous exercise, no increase in lactic acid |
McArdles (Type V)
|
|
|
Tumor marker to screen for prostate carcinoma (other than PSA)
|
Tumor marker: Prostatic acid phosphatase
|
|
|
Thymic aplasia (DiGorge syndrome) - 22q11 deletion
- Thymus and parathyroids fail to develop due to failure of development of the 3rd and 4th pharyngeal pouches. - presents with Tetany owing to hypocalcemia. - recurrent viral and fungal infections - congenital defects of heart and great vessels |
Decreased production of:
T cells |
|
|
Tumor suppressor:
NF1 on 17q -tumors accociated with abberation of this? |
Neurofibromatosis type 1
-what tumor suppressor gene and chromosome are lost? |
|
|
Inheritance: AD
Genetics: Fibrillin mutation S/S: Skeletal:Tall with long extremities, pectus excavatum, hyperextensive joins, long fingers and toes CV: cystic medial necrosis of aorta-> aortic incompetence and dissecting aortic aneursym. Floppy mitral valve Occular: subluxation of lenses |
Marfan's Syndrome
|
|
|
Retinoblastoma, osteosarcoma
-what tumor suppressor gene and chromosome are lost? |
Tumor supressor:
Rb on 13q -tumors accociated with abberation of this? |
|
|
Achondroplasia
|
Inheritance: AD
Findings: dwarfism, short limbs, but head and trunk are normal size. Genetics: AD cell-signaling defect of FGF receptor 3 Associated with advanced paternal age |
|
|
Tumor suppressor:
DCCon 18q -tumors accociated with abberation of this? |
Colon cancer
-what tumor suppressor gene and chromosome are lost? |
|
|
translocation accociated with CML
|
t(9,22)
Philadelphia chromosome --> bcr-abl |
|
|
Neurofibromatosis type 1 (von Recklinghausen)
|
Inheritance: AD
S/S: cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris harmatomas), scoliosis, optic pathway gliomas, pheochromocytoma Genetics: long arm of Chrom 17 |
|
|
N-myc associated tumor
|
Neuroblastoma gain of function mutation
|
|
|
Huntington's
AD or AR? |
AD
|
|
|
thalassemias
AD or AR? |
AR
|
|
|
Tumor suppressor:
NF2 on 22q -tumors accociated with abberation of this? |
Neurofibromatosis type 2
-what tumor suppressor gene and chromosome are lost? |
|
|
Idiopathic dysfunction of B cells
(Ataxia-telangiectasia) |
- Defect in DNA repair enzymes with associated IgA deficiency
- presents with cerebellar problems (ataxia) and spider angiomas (telangiectasias) |
|
|
Secreted by Th2 cells.
Promotes growth of B cells. Enhances class switching to IgE and IgG Simulates IgE production |
IL-4
|
|
|
IL-8
|
Secreted by macrophages.
Major chemotactic factor for neutrophils. Pneumonic: "Clean up on aisle 8" |
|
|
Tumor marker suggesting:
Hydratidiform mole Choriocarcinoma Gestational trophoblastic tumors |
Tumor marker: beta-hCG
|
|
|
Wilms' tumor
-what tumor suppressor gene and chromosome are lost? |
Tumor suppressor:
WT1 on 11p -tumors accociated with abberation of this? |
|
|
Deficient Enzyme: Sphingomyelinase
Accumulated Substrate: Sphigomyelin Inheritance: AR S/S: progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells |
Niemann-Pick Dz
|
|
|
Glycogenolysis
|
Glycogen Phosphorylase
|
|
|
- defect in phagocytosis of neutrophils owing to lack of NADPH oxidase activity or similar enzymes.
- presents with marked susceptibility to opportunistic infections with bacteria, especially S. aureus, and Aspergillus. - diagnosis confirmed with negative nitroblue tetrazolium dye reduction test |
Chronic Granulomatous disease
|
|
|
Huntington's disease
|
Inheritance: AD
S/S: depression, progressive dementia, choreiform movements, caudate atrophy, decreased GABA and Ach levels in brain, Onset: 20-50yo Genetics: Chrom 4 - triplet repeat disorder |
|
|
Pancreatic cancer
-what tumor suppressor gene and chromosome are lost? |
Tumor suppressor:
DPC on 18q -tumors accociated with abberation of this? |
|
|
Deficient enzyme: Glucose-6-phosphatase
S/S: severe fasting hypoglycemia, very increased liver glycogen, increased blood lactate, hepatomegaly, renomegaly |
Von Gierke's (Type I)
|
|
|
CML (gain of function mutation)
|
abl associated tumor
|
|
|
Tumor marker to screen for prostate carcinoma
|
Tumor marker: PSA
|
|
|
Hemophilia A and B
|
x-linked recessive disorder
|
|
|
Deficient Enzyme: Arylsulfatase A
Accumulated substrate: Cerebroside Sulfate Inheritance: AR S/S: Central and peripheral demyelination with ataxia, dementia |
Metachromatic leukodystrophy
|
|
|
c-kit associated tumor
|
Gastrointestinal stromal tumor (GIST) gain of function mutation
|
|
|
t(15;17)
|
translocation accociated with M3 type of AML (acute promyelocytic leukemia)
Responsive to all trans retinoic acid (ATRA) |
|
|
Secreted by macrophages.
Major chemotactic factor for neutrophils. |
IL-8
|
|
|
Wiskott-Aldrich syndrome
|
Decreased activation of:
B cells (x-linked) |
|
|
Neurofibromatosis type 2
-what tumor suppressor gene and chromosome are lost? |
Tumor suppressor:
NF2 on 22q -tumors accociated with abberation of this? |
|
|
Macrophages
(cells surface proteins) |
MHC II, B7, CD40, CD14, Receptors for Fc and C3b
|
|
|
Decreased activation of:
macrophages - failure of IFN-gamma production by helper T cells. - neutrophils fail to respond to chemotactic stimuli - presents with coarse Facies, cold (noninflamed) staphylococcal Abscesses, retain primary Teeth, increased IgE , and Dermatologic problems (exzema) -->; FATED |
Job's syndrome
|
|
|
Familial hypercholesterolemia
AD or AR? |
AD
|
|
|
translocation accociated with Burkitt's Lymphoma
|
t(8;14)
c-myc activation |
|
|
Idiopathic dysfunction of B cells
(common varable immunodeficiency) |
- normal numbers of circulating B cells, decreased plasma cells (defec tin B-cell maturation), decreased Ig
- can be acquired in 20s-30s |
|
|
Neurofibromatosis type 1
-what tumor suppressor gene and chromosome are lost? |
Tumor suppressor:
NF1 on 17q -tumors accociated with abberation of this? |
|
|
Pompe's (Type II)
|
Deficient Enzyme: Lysosomal alpha-1,4 glucosidase (acid maltase)
S/S: Cadriomegaly,cadiomyopathy, hepatomegaly, systemic findings leading to early death Trick: ___ Trashes Pumps (heart, liver, muscle) |
|
|
Decreased activation of
B cells (x-linked) - defect in the ability to mount an IgM response to capsular polysaccharides of bacteria. - assoc. with elevated IgA levels Aldrich = increased IgA, normal IgE levels, and low IgM levels. - tirad of symptoms includes recurrent pyogenic Infections, throbocytopenic Purpura, Exzema (WIPE). |
Wiskott-Aldrich syndrome
|
|
|
IL-12 receptor deficiency
|
Decreased activation of:
T cells - presents with disseminated mycobacterial infections due to decreased Th1 response |
|
|
Chediak-Higashi disease
|
- autosomal recessive
- defect in microtubular function and lysosomal emptying of phagocytic cells. - presents with recurrent pyogenic infections by staphylococci and streptococci, patial albinism, and peripheral neuropathy |
|
|
Bruton's agammaglobulinemia
|
x-linked recessive disorder
|
|
|
Secreted by activated T cells.
Supports the growth and differentiation of bone marrow stem cells. Has a function similar to GM-CSF Stimulated bone marrow |
IL-3
|
|
|
Leukocyte adhesion deficiency syndrome (type 1)
|
- defect in LFA-1 integrin proteins on phagocytes.
- presents early with recurrent bacterial infections, absent pus formation, and delayed separation of umbilicus |
|
|
Tumor marker found in following conditions:
1) normally made by fetus. 2) hepatocellular carcinoma 3) non-seminomatous germ cell turmors of the testis (e.g. yolk sac tumor) |
Tumor marker: alpha-fetoprotein
|
|
|
TNF
|
Secreted by macrophages.
Mediates septic shock. Causes leukocyte recruitment, vascular leak. |
|
|
translocation accociated with Follicular lymphoma
|
t(14;18)
bcl-2 activation |
|
|
Inheritance: AD
Findings: spheroid erythrocytes, hemolytic anemia, increased MCHC. Splenectomy is curative |
Hereditary spherocytosis
|
|
|
Secreted by regulatory T cells.
Inhibits actions of activated T cells. |
IL-10
|
|
|
ras associated tumor
|
Colon carcinoma gain of function mutation
|
|
|
phenylketonuria
AD or AR? |
AR
|
|
|
Colon carcinoma gain of function mutation
|
ras associated tumor
|
|
|
IL-12
|
Secreted by B cells and macrophages.
Activates NK and Th1 cells. |
|
|
Deficient enzyme: Debranching enzyme alpha-1,6-glucosidase
S/S: Milder form of type I with normal blood lactate levels, gluconeogenesis is intact |
Cori's (Type III)
|
|
|
gamma-interferon
|
Secreted by Th1 cells.
Stimulates macrophages |
|
|
Burkitt's lymphoma gain of function mutation
|
c-myc associated tumor
|
|
|
Ketogenesis
|
HMG-CoA synthesase
|
|
|
Mantle cell lymphoma
|
t(11;14)
|
|
|
Receptors for MHC I, CD16, CD56
|
NK cells
(cell surface proteins) |
|
|
Decreased production of:
B and T cells - defect in early stem-cell differentiation. - recurrent viral, bacterial, fungal, and protozoal infections - may have multiple causes (e.g. failure to synthesize MHC II Ags, defective IL-2 receptors, or adenosine deaminase deficiency) |
Severe Combined Immunodeficiency (SCID)
|
|
|
HLA subtype accociated with:
Diabetes Mellitus type 1 |
Diseases accociated with HLA-DR3
|
|
|
Hunter's Syndrome
|
Deficient Enzyme: Iduronate Sulfatase
Accumulated substrate: heparan sulfate, dermatan sulfate Inheritance: XR S/S: Milder Hurlers + aggressive behavior, NO corneal clouding |
|
|
Inheritance: AR
Genetics: defect in CFTR gene on Chrom 7 Path: defective Cl- channel; secrete thick mucus that plugs lungs, pancreas and liver -> recurrent pulmonary infections (S. aureus, Pseduomonas) Findings: Chronic bronchitis, bronchiectasis, pancreatic insufficiency, meconium ileus in newborns, infertile males Tx: N-acetylcysteine to loosen mucus plugs Test: Increased Cl- ion concentration in sweat |
Cystic Fibrosis
|
|
|
Fragile X syndrome
|
Defect affecting the methylation and expression of the FMR1 gene. Associated with chromosomal breakage. The 2nd most common cause of genetic mental retardation. Associated with macro-orchidism (enlarged testes), long face with a large jaw, large everted ears, and autism.
Triple repeat disorder (CGG)n that may show anticipation (germline expansion in females) Fragile X = eXtra-large testes, jaw, ears |
|
|
Andersen's (Type IV)
|
S/S: progressive cirrhosis, myopathy, heart failure
|
|
|
Tumor marker: CEA
|
Non-specific tumor marker produced by:
1) ~70% of colorectal and pancreatic cancers 2) gastric carcinomas 3) breast carcinomas |
|
|
Deficient Enzyme: Galactocerebrosidase
Accumulated substrate: Galactorcerebroside Inheritance: AR S/S: peripheral neuropathy, developmental delay, optic atrophy, globoid cells |
Krabbes Dz
|
|
|
glycogen storage disease
AD or AR? |
AR
|
|
|
Neurofibromatosis Type 2
AD or AR? |
AD
|
|
|
- autosomal recessive
- defect in microtubular function and lysosomal emptying of phagocytic cells. - presents with recurrent pyogenic infections by staphylococci and streptococci, partial albinism, and peripheral neuropathy |
Chediak-Higashi disease
|
|
|
Tumor marker: CA-19-9
|
Tumor marker indicating:
1) pancreatic adenocarcinoma |
|
|
Tay-Sachs Dz
|
Deficienct Enzyme: Hexosaminidase A
Accumulated substrate: GM2 ganglioside Inheritance: AR S/S: progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin |
|
|
Tumor marker indicating:
Hairy cell leukemia |
Tumor marker: TRAP (tarate resistant acid phosphatase)
|
|
|
Familial hypercholesterolemia
|
Inheritance: AD
Pathology: Elevated LDL. Heterzygotes LDL = 300, Homozygous LDL (rare) +>700 S/S: Sever atherosclerotic disease early in life, tendon xanthomas (Achilles), MI before 20yo |
|
|
McArdles (Type V)
|
Deficient enzyme: skeletal muscle glycogen phosphorylase
S/S: increased glycogen in muscle, but no breakdown, painful muscle cramps, myoglobinuria with strenuous exercise, no increase in lactic acid |
|
|
Tumor marker: Alkaline phosphatase
|
Tumor marker suggesting:
1) metastases to bone 2) obstructive biliary disease 2) Paget's disease of the bone |
|
|
HLA subtype accociated with:
Psoriasis Ankylosing Spondylitis (p353) Inflamatory Bowel Disease Reiter's Syndrome --> "can't see, pee, or climb a tree" (conjunctivitis and anterior uveitis, urethritis, arthritis p353) (PAIR) |
Diseases accociated with HLA-B27
|
|
|
Glycogen synthesis
|
Glycogen synthase
|
|
|
G6PD deficiency
|
x-linked recessive disorder
pneumonic: Be Wise Fool's GOLD Heeds False Hope Female carriers of x-linked recessive disorders are rarely affected because of random inactivation of X chromosomes in each cell) |
|
|
Inheritance: AD, incomplete penetrance
S/S: facial lesions (adenoma sebaceum), hypopigmented 'ash leaf spots' on skin, cortical and retinal harmatomas, seizures, mental retardation, reanl cycts and angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas |
Tuberous sclerosis
|
|
|
Deficient Enzyme: Iduronate Sulfatase
Accumulated substrate: heparan sulfate, dermatan sulfate Inheritance: XR S/S: Milder Hurlers + aggressive behavior, NO corneal clouding |
Hunter's Syndrome
|
|
|
Follicular and undifferentiated lymphomas (inhibits apoptosis) - (gain of function mutation)
|
bcl-2 associated tumor
|
|
|
Tumor marker indicating:
1) Ovarian tumors 2) Malignant epithelial tumors |
Tumor marker: CA-125
|
|
|
Diseases accociated with HLA-DR4
|
HLA subtype accociated with:
Rheumatoid arthritis, diabetes mellitus type 1 |
|
|
Secreted by Th1 cells.
Stimulates macrophages |
gamma-interferon
|
|
|
Tumor suppressor:
p53 on 17p -tumors accociated with abberation of this? |
Most human cancers, also called Li-Fraumeni syndrome
-what tumor suppressor gene and chromosome are lost? |
|
|
Tumor marker: Prostatic acid phosphatase
|
Tumor marker to screen for prostate carcinoma (other than PSA)
|
|
|
L-myc associated tumor
|
Lung tumor gain of function mutation
|
|
|
Fragile X
|
x-linked recessive disorder
|
|
|
Inheritance: AD
Pathology: Bilateral enlargement of kidneys due to multiple cysts. S/S: pain, hematuria, hypertension, progressive renal failure Genetics: APKD1, Chrom 16 Associated with: polycystic liver, berry aneurysms, mitral valve prolapse (Juvenille form is recessive) |
Adult polycystic kidney disease
|
|
|
Deficient Enzyme: beta-glucocerebrosidase
Accumulated substrate: glucocerebroside Inheritance: AR S/S: hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher cells (macrophages that look like crumbled tissure paper) Most common lysosomal storage dz |
Gaucher's Dz
|
|
|
translocation accociated with Ewing's sarcoma
|
t(11;22)
|
|
|
Decreased production of:
T cells - Thymus and parathyroids fail to develop due to failure of development of the 3rd and 4th pharyngeal pouches. - presents with Tetany owing to hypocalcemia. - recurrent viral and fungal infections - congenital defects of heart and great vessels |
Thymic aplasia (DiGorge syndrome) - 22q11 deletion
|
|
|
All cells except mature RBCs
(surface proteins) |
MHC I
|
|
|
Secreted by Th cells.
Stimulates growth of helper and cytotoxic T cells Stimulates T cells |
IL-2
|
|
|
Bruton's agammaglobulinemia
|
decreased production of:
B cells |
|
|
Inheritance: AD
Findings: dwarfism, short limbs, but head and trunk are normal size. Genetics: AD cell-signaling defect of FGF receptor 3 Associated with advanced paternal age |
Achondroplasia
|
|
|
HLA subtype accociated with:
Graves' disease, celiac sprue |
Diseases accociated with HLA-B8
|
|
|
Adult polycystic kidney disease
|
Inheritance: AD
Pathology: Bilateral enlargement of kidneys due to multiple cysts. S/S: pain, hematuria, hypertension, progressive renal failure Genetics: APKD1, Chrom 16 Associated with: polycystic liver, berry aneurysms, mitral valve prolapse (Juvenille form is recessive) |
|
|
Breast and ovarian cancer
-what tumor suppressor gene and chromosome are lost? |
Tumor suppressor:
BRCA1 on 17q -tumors accociated with abberation of this? |
|
|
HLA subtype accociated with:
Rheumatoid arthritis, diabetes mellitus type 1 |
Diseases accociated with HLA-DR4
|
|
|
- normal numbers of circulating B cells, decreased plasma cells (defec tin B-cell maturation), decreased Ig
- can be acquired in 20s-30s |
Idiopathic dysfunction of B cells
(common varable immunodeficiency) |
|
|
IL-4
|
Secreted by Th2 cells.
Promotes growth of B cells. Enhances class switching to IgE and IgG Simulates IgE production |
|
|
Ocular Albinism
|
x-linked recessive disorder
|
|
|
t(9,22)
Philadelphia chromosome --> bcr-abl |
translocation accociated with CML
|
|
|
Tumor suppressor:
BRCA2 on 13q -tumors accociated with abberation of this? |
Breast cancer
-what tumor suppressor gene and chromosome are lost? |
|
|
Cholesterol Synthesis
|
HMG-CoA reductase
|
|
|
Marfan's Syndrome
|
Inheritance: AD
Genetics: Fibrillin mutation S/S: Skeletal:Tall with long extremities, pectus excavatum, hyperextensive joins, long fingers and toes CV: cystic medial necrosis of aorta-> aortic incompetence and dissecting aortic aneursym. Floppy mitral valve Occular: subluxation of lenses |
|
|
Inheritance: AD
S/S: hemangioblastomas or retina/cerebellum/medulla, bilateral renal cell carcinomas Genetics: Associated with deletion of VHL gene on Chrom 3p |
von Hippel-Lindau Disease
|
|
|
von Hippel-Lindau Disease
|
Inheritance: AD
S/S: hemangioblastomas or retina/cerebellum/medulla, bilateral renal cell carcinomas Genetics: Associated with deletion of VHL gene on Chrom 3p |
|
|
Familial adenomatous polyposis
|
Inheritance: AD
Findings: colon covered with adenomatous polyps after puberty. Progresses to colon cancer without resection Genetics: Deletion of APC gene on chrom 5 |
|
|
Wiskott-Aldrich syndrome
|
x-linked recessive disorder
|
|
|
Tumor marker: PSA
|
Tumor marker to screen for prostate carcinoma
|
|
|
Diseases accociated with HLA-DR2
|
HLA subtype accociated with:
Multiple sclerosis, hay fever, SLE, Goodpasture's |
|
|
c-myc associated tumor
|
Burkitt's lymphoma gain of function mutation
|
|
|
Secreted by Th2 cells.
Promotes differentiation of B cells. Enhances class switching to IgA. Stimulates production and activation of eosinophils Stimulates IgA production |
IL-5
|
|
|
Secreted by B cells and macrophages.
Activates NK and Th1 cells. |
IL-12
|
|
|
Duchenne's muscular dystrophy
|
x-linked recessive disorder
|
|
|
Inheritance: AD
S/S: cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris harmatomas), scoliosis, optic pathway gliomas, pheochromocytoma Genetics: long arm of Chrom 17 |
Neurofibromatosis type 1 (von Recklinghausen)
|
|
|
Gastrointestinal stromal tumor (GIST) gain of function mutation
|
c-kit associated tumor
|
|
|
Glycolysis
|
PFK-1
|
|
|
Neurofibromatosis type 2
|
Inheritance: AD
S/S: bilateral acoustic tumors, juvenille cataracts Genetics: NF2 gene on chrom 22 |
|
|
Tumor suppressor:
p16 on 9p -tumors accociated with abberation of this? |
Melanoma
-what tumor suppressor gene and chromosome are lost? |
|
|
IL-3
|
Secreted by activated T cells.
Supports the growth and differentiation of bone marrow stem cells. Has a function similar to GM-CSF Stimulates bone marrow |
|
|
Diseases accociated with HLA-DR5
|
HLA subtype accociated with:
Pernicious anemia (B12 deficiency), Hashimoto's thyroiditis |
|
|
Tuberous sclerosis
AD or AR? |
AD
|
|
|
- Defect in DNA repair enzymes with associated IgA deficiency
- presents with cerebellar problems (ataxia) and spider angiomas (telangiectasias) |
Idiopathic dysfunction of B cells
(Ataxia-telangiectasia) |
|
|
Niemann-Pick Dz
|
Deficient Enzyme: Sphingomyelinase
Accumulated Substrate: Sphigomyelin Inheritance: AR S/S: progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells |
|
|
Familial adenomatous polyposis
AD or AR? |
AD
|
|
|
- deficiency in a specific class of Igs -- possibly due to a defect in isotype switching
- selective IgA deficiency is the most common selective Ig deficiency - presents with sinus and lung infectionl milk allergies and diarrhea are common |
Idiopathic dysfunction of B cells
(selective immunoglobulin deficiency) |
|
|
Diseases accociated with HLA-B8
|
HLA subtype accociated with:
Graves' disease, celiac sprue |
|
|
Hereditary spherocytosis
|
Inheritance: AD
Findings: spheroid erythrocytes, hemolytic anemia, increased MCHC. Splenectomy is curative |
|
|
Tumor supressor:
Rb on 13q -tumors accociated with abberation of this? |
Retinoblastoma, osteosarcoma
-what tumor suppressor gene and chromosome are lost? |
|
|
Cystic fibrosis
AD or AR? |
AR
|
|
|
Fatty acid synthesis
|
Acetyl-CoA carboxylase (ACC)
|
|
|
IgM, B7, CD19, CD20, CD21, CD40, MHC II
|
B cells
(cell surface proteins) |
|
|
Tuberous sclerosis
|
Inheritance: AD, incomplete penetrance
S/S: facial lesions (adenoma sebaceum), hypopigmented 'ash leaf spots' on skin, cortical and retinal harmatomas, seizures, mental retardation, reanl cycts and angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas |
|
|
hyper-IgM syndrome
|
Decreased activation of:
B cells - defect in CD40 ligand on CD4 T helper cells leads to inability to class switch. - presents early in life with severe pyogenic infections. - high levels of IgM; very low levels of IgG, IgA, and IgE |
|
|
Idiopathic dysfunction of T cells
(chronic mucocutaneous candidiasis) |
- T-cell dysfunction specifically against Candida albicans.
- presents with skin and mucous membrane Candida infections |
|
|
Achondroplasia
AD or AR? |
AD
|
|
|
Deficient Enzyme: alpha-galactosidase A
Accumulated substrate: Ceramide trihexoside Inheritance: XR S/S: peripheral neuropathy of hands/feet, angiokeratomas, CV/renal dz |
Fabry's Dz
|
|
|
Job's syndrome
|
Decreased activation of:
macrophages - failure of IFN-gamma production by helper T cells. - neutrophils fail to respond to chemotactic stimuli - presents with coarse Facies, cold (noninflamed) staphylococcal Abscesses, retain primary Teeth, increased IgE, and Dermatologic problems (exzema) --> FATED |
|
|
MHC II, B7, CD40, CD14, Receptors for Fc and C3b
|
Macrophages
(cells surface proteins) |
|
|
B cells
(cell surface proteins) |
IgM, B7, CD19, CD20, CD21, CD40, MHC II
|
|
|
S/S: progressive cirrhosis, myopathy, heart failure
|
Andersen's (Type IV)
|
|
|
Tumor marker indicating:
1) pancreatic adenocarcinoma |
Tumor marker: CA-19-9
|
|
|
Tumor suppressor:
WT1 on 11p -tumors accociated with abberation of this? |
Wilms' tumor
-what tumor suppressor gene and chromosome are lost? |
|
|
Tumor marker: S-100
|
Tumor marker suggesting:
1) melanomas 2) neural tumors 3) astrocytomas |
|
|
Deficienct Enzyme: Hexosaminidase A
Accumulated substrate: GM2 ganglioside Inheritance: AR S/S: progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin |
Tay-Sachs Dz
|
|
|
CD8, TCR, CD3
|
Cytotoxic T cells
(cell surface proteins) |
|
|
Defect affecting the methylation and expression of the FMR1 gene. Associated with chromosomal breakage. The 2nd most common cause of genetic mental retardation. Associated with macro-orchidism (enlarged testes), long face with a large jaw, large everted ears, and autism.
Triple repeat disorder (CGG)n that may show anticipation (germline expansion in females) |
Fragile X syndrome
|
|
|
erb-B2 associated tumors
|
Breast, ovarian, and gastric carcinomas - gain of function mutation
|
|
|
translocation accociated with M3 type of AML (acute promyelocytic leukemia)
Responsive to all trans retinoic acid (ATRA) |
t(15;17)
|
|
|
HLA subtype accociated with:
Steroid-responsive nephrotic syndrome |
Diseases accociated with HLA-DR7
|
|
|
Idiopathic dysfunction of B cells
(selective immunoglobulin deficiency) |
- deficiency in a specific class of Igs -- possibly due to a defect in isotype switching
- selective IgA deficiency is the most common selective Ig deficiency - presents with sinus and lung infectionl milk allergies and diarrhea are common |
|
|
mucopolysaccharides
AD or AR? |
AR (except Hunters = XR)
|
|
|
t(14;18)
bcl-2 activation |
translocation accociated with Follicular lymphoma
|
|
|
decreased production of:
B cells - X-linked recessive defect in a tyrosine kinase gene associated with low levels of all classes of Igs. - Associated with recurrent Bacterial infections after 6 months of age, when levels of maternal IgG Ab decline. - occurs in Boys |
Bruton's agammaglobulinemia
|
|
|
sphingolipidoses
AD or AR? |
AR (except for Fabrys' = XR)
|
|
|
Secreted by macrophages
Causes acute inflammation Induces chemokine production to recruit leukocytes; activates endothelium to express adhesion molecules. An endogenous pyrogen. |
IL-1
|
|
|
Colon cancer
-what tumor suppressor gene and chromosome are lost? |
Tumor suppressor:
DCC on 18q -tumors accociated with abberation of this? |
|
|
CD4, TCR, CD3, CD28, CD40L
|
Helper T cells
(surface proteins) |
|
|
Heme synthesis
|
ALA synthase
|
|
|
Tumor suppressor:
APC on 5q -tumors accociated with abberation of this? |
Colorectal cancer
-what tumor suppressor gene and chromosome are lost? |
|
|
- T-cell dysfunction specifically against Candida albicans.
- presents with skin and mucous membrane Candida infections |
Idiopathic dysfunction of T cells
(chronic mucocutaneous candidiasis) |
|
|
Cori's (Type III)
|
Deficient enzyme: Debranching enzyme alpha-1,6-glucosidase
S/S: Milder form of type I with normal blood lactate levels, gluconeogenesis is intact |
|
|
Diseases accociated with HLA-DR3
|
HLA subtype accociated with:
Diabetes Mellitus type 1 |
|
|
Tumor marker: alpha-fetoprotein
|
Tumor marker found in following conditions:
1) normally made by fetus. 2) hepatocellular carcinoma 3) non-seminomatous germ cell turmors of the testis (e.g. yolk sac tumor) |
|
|
t(8;14)
c-myc activation |
translocation accociated with Burkitt's Lymphoma
|
|
|
Deficient enzyme: alpha-L-iduronidase
Accumulated substrate: Heparan sulfate, dermatan sulfate Inheritance: AR S/S: Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
Hurler's syndrome
|
|
|
Decreased activation of:
B cells -defect in CD40 ligand on CD4 T helper cells leads to inability to class switch. - presents early in life with severe pyogenic infections. - high levels of IgM; very low levels of IgG, IgA, and IgE |
hyper-IgM syndrome
|
|
|
Diseases accociated with HLA-B27
|
HLA subtype accociated with:
Psoriasis Ankylosing Spondylitis (p353) Inflamatory Bowel Disease Reiter's Syndrome --> "can't see, pee, or climb a tree" (conjunctivitis and anterior uveitis, urethritis, arthritis p353) (PAIR) |
|
|
Hurler's syndrome
|
Deficient enzyme: alpha-L-iduronidase
Accumulated substrate: Heparan sulfate, dermatan sulfate Inheritance: AR S/S: Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
|
|
NK cells
(cell surface proteins) |
Receptors for MHC I, CD16, CD56
|
|
|
Adult Polycystic Kidney Disease:
AD or AR? |
AD
|
|
|
Hunter's syndrome
|
x-linked recessive disorder
|
|
|
von Hipple-Lindau Dz
AD or AR? |
AD
|
|
|
Deficient Enzyme: Lysosomal alpha-1,4 glucosidase (acid maltase)
S/S: Cadriomegaly,cadiomyopathy, hepatomegaly, systemic findings leading to early death Trick: ___ Trashes Pumps (heart, liver, muscle) |
Pompe's (Type II)
|
|
|
infant polycystic kidney disease
AD or AR? |
AR
|
|
|
Lung tumor gain of function mutation
|
L-myc associated tumor
|
|
|
Cystic Fibrosis
|
Inheritance: AR
Genetics: defect in CFTR gene on Chrom 7 Path: defective Cl- channel; secrete thick mucus that plugs lungs, pancreas and liver -> recurrent pulmonary infections (S. aureus, Pseduomonas) Findings: Chronic bronchitis, bronchiectasis, pancreatic insufficiency, meconium ileus in newborns, infertile males Tx: N-acetylcysteine to loosen mucus plugs Test: Increased Cl- ion concentration in sweat |
|
|
De novo purine synthesis
|
Glutamine-PRPP amindotransferase
|
|
|
Marfan's
AD or AR? |
AD
|
|
|
MHC I
|
All cells except mature RBCs
(surface proteins) |
|
|
Inheritance: AD
S/S: depression, progressive dementia, choreiform movements, caudate atrophy, decreased GABA and Ach levels in brain, Onset: 20-50yo Genetics: Chrom 4 - triplet repeat disorder |
Huntington's disease
|
|
|
HLA subtype accociated with:
Multiple sclerosis, hay fever, SLE, Goodpasture's |
Diseases accociated with HLA-DR2
|
|
|
IL-5
|
Secreted by Th2 cells.
Promotes differentiation of B cells. Enhances class switching to IgA. Stimulates production and activation of eosinophils Stimulates IgA production |
|
|
TCA cycle
|
Isocitrate dehydrogenase
|
|
|
Tumor marker suggesting:
1) metastases to bone 2) obstructive biliary disease 2) Paget's disease of the bone |
Tumor marker: Alkaline phosphatase
|
|
|
Tumor marker: CA-125
|
Tumor marker indicating:
1) Ovarian tumors 2) Malignant epithelial tumors |
|
|
Tumor marker: TRAP (tarate resistant acid phosphatase)
|
Tumor marker indicating:
Hairy cell leukemia |
|
|
albinism
AD or AR? |
AR
|
|
|
HMG-CoA reductase
|
Cholesterol Synthesis
|
|
|
Urea Cycle
|
Carbamoyl phosphate synthase 1
|
|
|
HMG-CoA synthesase
|
Ketogenesis
|
|
|
Acetyl-CoA carboxylase (ACC)
|
Fatty acid synthesis
|
|
|
De novo pyrimidine synthesis
|
Aspartate transcarbamylase (ATCase)
|
|
|
Gluconeogenesis
|
Fructose 1,6-Bisphosphatase (FBP-1)
|
|
|
Fatty acid oxidation
|
Carnitine acyltransferase I
|
|
|
HMP shunt
|
Glucose-6-phosphate dehydrogenase (G6PD)
|
|
|
Fructose 1,6-Bisphosphatase (FBP-1)
|
Gluconeogenesis
|
|
|
ALA synthase
|
Heme synthesis
|
|
|
Glycogenolysis
|
Glycogen Phosphorylase
|
|
|
Glycogen synthase
|
Glycogen synthesis
|
|
|
Glycogen Phosphorylase
|
Glycogenolysis
|
|
|
Carnitine acyltransferase I
|
Fatty acid oxidation
|
|
|
Ketogenesis
|
HMG-CoA synthesase
|
|
|
Aspartate transcarbamylase (ATCase)
|
De novo pyrimidine synthesis
|
|
|
Glycogen synthesis
|
Glycogen synthase
|
|
|
Glucose-6-phosphate dehydrogenase (G6PD)
|
HMP shunt
|
|
|
Isocitrate dehydrogenase
|
TCA cycle
|
|
|
Cholesterol Synthesis
|
HMG-CoA reductase
|
|
|
Carbamoyl phosphate synthase 1
|
Urea Cycle
|
|
|
Glycolysis
|
PFK-1
|
|
|
Fatty acid synthesis
|
Acetyl-CoA carboxylase (ACC)
|
|
|
Glutamine-PRPP amindotransferase
|
De novo purine synthesis
|
|
|
Heme synthesis
|
ALA synthase
|
|
|
De novo purine synthesis
|
Glutamine-PRPP amindotransferase
|
|
|
TCA cycle
|
Isocitrate dehydrogenase
|
|
|
PFK-1
|
Glycolysis
|
|
|
Acting out
|
Unacceptable feelings and thoughts are expresed through actions.
Ex: Tantrums |
|
|
Dissociation
|
Temporary, drastic change in personality, memory, consciousness, or motor behavior to avoid emotional stress.
Ex: Extreme forms can result in multiple personality disorders |
|
|
Denial
|
Avoidance of awareness of some painful reality.
Ex: A common reaction in newly diagnosed AIDS and cancer patients |
|
|
Displacement
|
Process whereby avoided ideas and feelings are transferred to some neutral person or object (vs projection)
Ex: Mohter yells at a child because she is angry at her husband |
|
|
Fixation
|
Partially remaining at a more childish level of development (vs regression)
Ex: Men fixating on sports games |
|
|
Identification
|
Modeling behavior after another person is who more powerful (though not necessarily admired)
Ex: Abused child becomes abuser |
|
|
Isolation
|
Separation of feelings from ideas and events
Ex: Describing murder in graphic detail with no emotional response |
|
|
Projection
|
An unacceptable internal impulse is attributed to an external source
Ex: A man who wants another woman thinks his wife is cheating on him |
|
|
Rationalization
|
Proclaiming logical reasons for actions actually performed for other reasons, usually to avoid self-blame
Ex: After getting fired, claiming that job was not important anyway |
|
|
Reaction Formation
|
Process whereby a warded-off idea or feeling is replaced by an (unconsciously derived) emphasis on the opposite
Ex: A patient with libidinous thoughts enters a monastery |
|
|
Regression
|
Turning back the maturational clock and going back to earlier modes of dealing with the world.
Ex: Seen in children under stress (eg bedwetting) and in patients on dialysis (eg crying) |
|
|
Repression
|
Involuntary withholding of an idea or feeling from conscious awareness
Ex: The basic mechanism underlying all others |
|
|
Splitting
|
Belief that people are either all good or all bad
Ex: A patient says that all the nurses are cold and insensitive byt that the doctors are warm and friendly |
|
|
Altruism
|
Guilty feelings alleviated by unsolicited generosity toward others
Ex: Mafia boss makes a large donation to charity |
|
|
Humor
|
Appreciating the amusing nature of an anxiety-provoking or adverse situation
Ex: Nervous med student jokes about the boards (very funny!) |
|
|
Sublimation
|
Process whereby one replaces an unacceptable wish with a course of action that is similar to the wish but does not conflict with one's value system
Ex: Aggressive impulses used to succeed in business ventures |
|
|
Suppression
|
Voluntary (unlike repression) withholding of an idea or feeling from conscious awareness
Ex: Choosing not to think about the USMLE until the week of the exam |
|
|
Unacceptable feelings and thoughts are expresed through actions.
Ex: Tantrums |
Acting out
|
|
|
Temporary, drastic change in personality, memory, consciousness, or motor behavior to avoid emotional stress.
Ex: Extreme forms can result in multiple personality disorders |
Dissociation
|
|
|
Avoidance of awareness of some painful reality.
Ex: A common reaction in newly diagnosed AIDS and cancer patients |
Denial
|
|
|
Process whereby avoided ideas and feelings are transferred to some neutral person or object (vs projection)
Ex: Mohter yells at a child because she is angry at her husband |
Displacement
|
|
|
Partially remaining at a more childish level of development (vs regression)
Ex: Men fixating on sports games |
Fixation
|
|
|
Modeling behavior after another person is who more powerful (though not necessarily admired)
Ex: Abused child becomes abuser |
Identification
|
|
|
Separation of feelings from ideas and events
Ex: Describing murder in graphic detail with no emotional response |
Isolation
|
|
|
An unacceptable internal impulse is attributed to an external source
Ex: A man who wants another woman thinks his wife is cheating on him |
Projection
|
|
|
Proclaiming logical reasons for actions actually performed for other reasons, usually to avoid self-blame
Ex: After getting fired, claiming that job was not important anyway |
Rationalization
|
|
|
Process whereby a warded-off idea or feeling is replaced by an (unconsciously derived) emphasis on the opposite
Ex: A patient with libidinous thoughts enters a monastery |
Reaction Formation
|
|
|
Turning back the maturational clock and going back to earlier modes of dealing with the world.
Ex: Seen in children under stress (eg bedwetting) and in patients on dialysis (eg crying) |
Regression
|
|
|
Involuntary withholding of an idea or feeling from conscious awareness
Ex: The basic mechanism underlying all others |
Repression
|
|
|
Belief that people are either all good or all bad
Ex: A patient says that all the nurses are cold and insensitive byt that the doctors are warm and friendly |
Splitting
|
|
|
Guilty feelings alleviated by unsolicited generosity toward others
Ex: Mafia boss makes a large donation to charity |
Altruism
|
|
|
Appreciating the amusing nature of an anxiety-provoking or adverse situation
Ex: Nervous med student jokes about the boards (very funny!) |
Humor
|
|
|
Process whereby one replaces an unacceptable wish with a course of action that is similar to the wish but does not conflict with one's value system
Ex: Aggressive impulses used to succeed in business ventures |
Sublimation
|
|
|
Voluntary (unlike repression) withholding of an idea or feeling from conscious awareness
Ex: Choosing not to think about the USMLE until the week of the exam |
Suppression
|
|
|
Signs of alcohol intoxication?
|
Disinhibition, emotional lability, slurred speech, ataxia, coma, blackouts.
Serum gamma-glutamyltransferase (GGT)-seneitive indicator of use. These are signs of intoxication with what drug? |
|
|
Signs of Opiod intoxication?
|
CNS depression, nausea, vomiting, constipation, pupillary constriction (pinpoint pupils), seizures (overdose is life threatening).
These are signs of intoxication with what drug? |
|
|
Signs of Amphetamine intoxication?
|
Psychomotor agitation, impaired judgment, pupillary dilation, hypertension, tachycardia, euphoria, prolonged wakefulness and attention, cardiac arrhythmias, delusions, hallucinations, fever.
These are signs of intoxication with what drug? |
|
|
Signs of Cocaine intoxication?
|
Euphoria, psychomotor agitation, impaired judgment, tachycardia, pupillary dilation, hypertension, hallucinations (including tactile), paranoid ideations, angina, sudden cardiac death.
These are signs of intoxication with what drug? |
|
|
Signs of PCP intoxication?
|
Belligerence, impulsiveness, fever, psychomotor agitation, vertical and horizontal nystagmus, tachycardia, ataxia, homicidality, psychosis, delirium.
These are signs of intoxication with what drug? |
|
|
Signs of LSD intoxication?
|
marked anxiety or depression, delusions, visual hallucinations, flashbacks, pupillary dilation.
These are signs of intoxication with what drug? |
|
|
Signs of marijuana intoxication?
|
Euphoria, anxiety, paranoid delusions, perception of slowed time, impaired judgment, social withdrawal, increased appetite (especially Fiery Hot Cheetos), dry mouth, hallucinations.
These are signs of intoxication with what drug? |
|
|
Signs of barbiturate intoxication?
|
low safety margin, respiratory depression.
These are signs of intoxication with what drug? |
|
|
Signs of Benzodiazepine intoxication?
|
Greater safety margin (than barbiturates), Amnesia, ataxia, somnolence, minor respiratory depression. Additive effects with alcohol.
These are signs of intoxication with what drug? |
|
|
Signs of Caffeine intoxication?
|
Restlessness, insomnia, increased diuresis, muscle twitching, cardiac arrhythmias.
These are signs of intoxication with what drug? |
|
|
Signs of nicotine intoxication?
|
Restlessness, insomnia, anxiety, arrhythmias.
These are signs of intoxication with what drug? |
|
|
Signs and Symptoms of Alcohol withdrawal
|
Tremor, tachycardia, hypertension, malaise, nausea, seizures, delirium tremens (DTs), tremulousness, agitation, hallucinations
|
|
|
Signs and Symptoms of Opiod withdrawal
|
Anxiety, insomnia, anorexia, sweating, dilated pupils, piloerection ("cold turkey"), fever, rhinorrhea, nausea, stomach cramps, diarrhea, ("flulike" symptoms), yawning
|
|
|
Signs and Symptoms of Amphetamine withdrawal
|
Post-use "crash," including depression, lethargy, headache, stomach cramps, hunger, hypersomnolence
|
|
|
Signs and Symptoms of Cocaine withdrawal
|
Post-use "crash," including severe depression and suicidality, hypersomnolence, fatigue, malaise, severe psychological craving
|
|
|
Signs and Symptoms of PCP withdrawal
|
Recurrence of intoxication symptoms due to reabsorption in GI tract; sudden onset of severe, random, homicidal violence
|
|
|
Signs and Symptoms of Marijuana withdrawal
|
Can be detected in urine up to 1 month after last use
|
|
|
Signs and Symptoms of Barbiturate withdrawal
|
Anxiety, seizures, delirium, life-threatening cardiovascular collapse
|
|
|
Signs and Symptoms of Benzodiazepine withdrawal
|
Rebound anxiety, seizures, tremor, insomnia
|
|
|
Signs and Symptoms of Caffeine withdrawal
|
Headache, lethargy, depression, weight gain
|
|
|
Signs and Symptoms of Nicotine withdrawal
|
Irritability, headache, anxiety, weight gain, craving
|
|
|
Tremor, tachycardia, hypertension, malaise, nausea, seizures, delirium tremens (DTs), tremulousness, agitation, hallucinations
|
Signs and Symptoms of Alcohol withdrawal
|
|
|
Anxiety, insomnia, anorexia, sweating, dilated pupils, piloerection ("cold turkey"), fever, rhinorrhea, nausea, stomach cramps, diarrhea, ("flulike" symptoms), yawning
|
Signs and Symptoms of Opiod withdrawal
|
|
|
Post-use "crash," including depression, lethargy, headache, stomach cramps, hunger, hypersomnolence
|
Signs and Symptoms of Amphetamine withdrawal
|
|
|
Post-use "crash," including severe depression and suicidality, hypersomnolence, fatigue, malaise, severe psychological craving
|
Signs and Symptoms of Cocaine withdrawal
|
|
|
Recurrence of intoxication symptoms due to reabsorption in GI tract; sudden onset of severe, random, homicidal violence
|
Signs and Symptoms of PCP withdrawal
|
|
|
Can be detected in urine up to 1 month after last use
|
Signs and Symptoms of Marijuana withdrawal
|
|
|
Anxiety, seizures, delirium, life-threatening cardiovascular collapse
|
Signs and Symptoms of Barbiturate withdrawal
|
|
|
Rebound anxiety, seizures, tremor, insomnia
|
Signs and Symptoms of Benzodiazepine withdrawal
|
|
|
Headache, lethargy, depression, weight gain
|
Signs and Symptoms of Caffeine withdrawal
|
|
|
Irritability, headache, anxiety, weight gain, craving
|
Signs and Symptoms of Nicotine withdrawal
|
|
|
Neoplasms associated with: Down Syndrome
|
ALL (we ALL fall Down), AML
|
|
|
Neoplasms associated with: Xeroderma pigmentosum, albinism
|
Melanoma, basal cell carcinoma, and especially squamous cell carcinomas of skin
|
|
|
Neoplasms associated with: chronic atrophic gastritis, pernicious anemia, postsurgical gastric remnants
|
Gastric adenocarcinoma
|
|
|
Neoplasms associated with: Tuberous sclerosis (facial angiobibroma, seizures, mental retardation)
|
astrocytoma, agiomyolipoma, and cardiac rhabdomyoma
|
|
|
Neoplasms associated with: Actinic keratosis
|
Squamous cell carcinoma of skin
|
|
|
Neoplasms associated with: Barrett's esophagus (chronic GI reflux)
|
Esophageal adenocarcinoma
|
|
|
Neoplasms associated with: Plummer-Vinson syndrome (atrophic glossitis, esophageal webs, anemia, all due to iron deficiency)
|
Squamous cell carcinoma of esophagus
|
|
|
Neoplasms associated with: Cirrhosis (alcoholic, hepatitis B or C)
|
Hepatocellular carcinoma
|
|
|
Neoplasms associated with: Ulcerative colitis
|
Colonic adenocarcinoma
|
|
|
Neoplasms associated with: Paget's disease of bone
|
Secondary osteosarcoma and fibrosarcoma
|
|
|
Neoplasms associated with: Immunodeficiency states
|
Malignant lymphomas
|
|
|
Neoplasms associated with: AIDS
|
Aggressive malignant lymphomas (non-Hodgkin's) and Kaposi's sarcoma
|
|
|
Neoplasms associated with: Automimmune diseases (e.g., Hashimoto's thyroiditis, myasthenia gravis)
|
Benign and malignant lymphomas
|
|
|
Neoplasms associated with: Acanthosis nigricans (hyperpigmentation and epidermal thickening)
|
Visceral malignancy (stomach, lung, breast, uterus)
|
|
|
Neoplasms associated with: Dysplastic nevus
|
Malignant melanoma
|
|
|
Neoplasms associated with: Radiation exposure
|
Sarcoma
|
|
|
Conditions/diseases associated with: ALL (we ALL fall Down), AML
|
Down Syndrome
|
|
|
Conditions/diseases associated with: Melanoma, basal cell carcinoma, and especially squamous cell carcinomas of skin
|
Xeroderma pigmentosum, albinism
|
|
|
Conditions/diseases associated with: Gastric adenocarcinoma
|
chronic atrophic gastritis, pernicious anemia, postsurgical gastric remnants
|
|
|
Conditions/diseases associated with: astrocytoma, agiomyolipoma, and cardiac rhabdomyoma
|
Tuberous sclerosis (facial angiobibroma, seizures, mental retardation)
|
|
|
Conditions/diseases associated with: Squamous cell carcinoma of skin
|
Actinic keratosis
|
|
|
Conditions/diseases associated with: Esophageal adenocarcinoma
|
Barrett's esophagus (chronic GI reflux)
|
|
|
Conditions/diseases associated with: Squamous cell carcinoma of esophagus
|
Plummer-Vinson syndrome (atrophic glossitis, esophageal webs, anemia, all due to iron deficiency)
|
|
|
Conditions/diseases associated with: Hepatocellular carcinoma
|
Cirrhosis (alcoholic, hepatitis B or C)
|
|
|
Conditions/diseases associated with:
|
Ulcerative colitis
|
|
|
Conditions/diseases associated with: Secondary osteosarcoma and fibrosarcoma
|
Paget's disease of bone
|
|
|
Conditions/diseases associated with: Malignant lymphomas
|
Immunodeficiency states
|
|
|
Conditions/diseases associated with: Aggressive malignant lymphomas (non-Hodgkin's) and Kaposi's sarcoma
|
AIDS
|
|
|
Conditions/diseases associated with: Benign and malignant lymphomas
|
Automimmune diseases (e.g., Hashimoto's thyroiditis, myasthenia gravis)
|
|
|
Conditions/diseases associated with: Visceral malignancy (stomach, lung, breast, uterus)
|
Acanthosis nigricans (hyperpigmentation and epidermal thickening)
|
|
|
Conditions/diseases associated with: Malignant melanoma
|
Dysplastic nevus
|
|
|
Conditions/diseases associated with: Sarcoma
|
Radiation exposure
|
|
|
Aflatoxin causes this cancer
|
Hepatocellular carcinoma is caused by this chemical
|
|
|
Vinly Chloride causes this cancer
|
Angiosarcoma in the liver is caused by this chemical
|
|
|
CCl4 causes this change
|
Centrilobular necrosis and fatty changes in the liver are seen with this chemical
|
|
|
Nitrosamines (from smoked foods) cause this cancer
|
Esophagus and stomach cancer are caused by this chemical
|
|
|
Cigarette smoke causes this cancer
|
Larynx, lung, renal cell carcinoma, and transitional cell carcinoma are caused by this agent
|
|
|
Asbestos causes this cancer
|
mesothelioma and bronchogenic carcinoma are caused by this chemical
|
|
|
Arsenic causes this cancer
|
Squamos cell carcinoma in the skin is caused by this agent
|
|
|
Napththalene (aniline) dyes cause this cancer
|
Transitional cell bladder carcinoma are caused by this agent
|
|
|
Alkyating agents cause this cancer
|
Leukemias are caused by this agent
|
|
|
Hepatocellular carcinoma is caused by this chemical
|
Aflatoxin causes this cancer
|
|
|
Angiosarcoma in the liver is caused by this chemical
|
Vinly Chloride causes this cancer
|
|
|
Centrilobular necrosis and fatty changes in the liver are seen with this chemical
|
CCl4 causes this change
|
|
|
Esophagus and stomach cancer are caused by this chemical
|
Nitrosamines (from smoked foods) cause this cancer
|
|
|
Larynx, lung, renal cell carcinoma, and transitional cell carcinoma are caused by this agent
|
Cigarette smoke causes this cancer
|
|
|
mesothelioma and bronchogenic carcinoma are caused by this chemical
|
Asbestos causes this cancer
|
|
|
Squamos cell carcinoma in the skin is caused by this agent
|
Arsenic causes this cancer
|
|
|
Transitional cell bladder carcinoma are caused by this agent
|
Napththalene (aniline) dyes cause this cancer
|
|
|
Leukemias are caused by this agent
|
Alkyating agents cause this cancer
|
