Study sets matching "term:diseases = congenital, immunologicl, metabolic, neoplastic"

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Study sets matching "term:diseases = congenital, immunologicl, metabolic, neoplastic"

64 terms
congenital metabolic diseases
aminoacidopathies
phenylketonuria
phenylketonuria inheritance pattern
how do you diagnose phenylketonuria
48 types cause mental retardation by 2 years
most frequent type... deficiency in phenylalanine hydroxylase (…
autosomal recessive... chromosome 12
increased serum phenylalanine or increased urine phenylpyruvi…
aminoacidopathies
48 types cause mental retardation by 2 years
phenylketonuria
most frequent type... deficiency in phenylalanine hydroxylase (…
12 terms
Biochem of Congenital Metabolic Diseases
inheritance pattern of most genetic me…
what are the 3 types of PAH deficiency?
dx test for PAH deficiency
Phe levels in PKU
autosomal recessive
classic PKU, variant PKU, non-PKU hyperPhe
Guthrie microbial assay
<1,000
inheritance pattern of most genetic me…
autosomal recessive
what are the 3 types of PAH deficiency?
classic PKU, variant PKU, non-PKU hyperPhe
91 terms
Congenital & Stationary Retinal Disease, Dystrophies, Metabolic Abnormalities
Chapter 8, Congenital and Stationary R…
Hereditary Retinal Disease. Leber's Co…
LCA, photo and audio. What part of ret…
Cone Disorders. 2 Categories?
...
Leber's Congenital Amaurosis. Achromatopsia. Blue-Cone Monoch…
Rods and cones affected. Nystagmus, hyperopia, oculodigital r…
Non-Progressive Disease: Achromatopsia (Rod Monochromatism),…
Chapter 8, Congenital and Stationary R…
...
Hereditary Retinal Disease. Leber's Co…
Leber's Congenital Amaurosis. Achromatopsia. Blue-Cone Monoch…
3.4.6 Congenital Abnormalities, Congenital Metabolic Disease, Puberty & Endocrine, Youth HC & Child Abuse.
3.4.6 theme: ... Congenital Abnormalities
Meaning Of:... pleiotropy, meiotic non-d…
Marfan syndrome
How does genetic mosaicism arise in so…
20 Qs
• Pleiotropy: genes that have more than one noticeable, disti…
- genetic disorder that affects the body's connective tissue…
-Somatic mosaicism occurs when the somatic cells of the body…
3.4.6 theme: ... Congenital Abnormalities
20 Qs
Meaning Of:... pleiotropy, meiotic non-d…
• Pleiotropy: genes that have more than one noticeable, disti…
Neoplastic Diseases
Abnormal growth of cells that lack the…
What are the characteristics of a beni…
Cancerous cells that invade and destro…
What are the characteristics of Malign…
Benign
Uniform (color), Smooth or papillary (small, round or cone-sh…
Malignant
Fast and uncontrolled growth due to genetic mutations.... 1. Irr…
Abnormal growth of cells that lack the…
Benign
What are the characteristics of a beni…
Uniform (color), Smooth or papillary (small, round or cone-sh…
10 terms
Origins of disease
Infectious
Heriditary
Congenital
Neoplastic
Hj
Jk
...
...
Infectious
Hj
Heriditary
Jk
Classifications of Diseases
Congenital and hereditary
Chronic
Inflammatory
Metabolic
Caused by developmental disturbances such as chromosomal and…
Causes degeneration of various body parts
Those in which the body reacts to injury or harmful agents wi…
Cause disturbances in normal metabolic processes
Congenital and hereditary
Caused by developmental disturbances such as chromosomal and…
Chronic
Causes degeneration of various body parts
Causes of Disease
metabolic
infectious
congenital
hereditary
diabetes
measles and mumps
cleft lip
hemophilia
metabolic
diabetes
infectious
measles and mumps
chpt 4/8
cause of disease 1
cause of disease 2
cause of disease 3
cause of disease 4
metabolic
infectious
congenital
heredity
cause of disease 1
metabolic
cause of disease 2
infectious
Classification of Disease
classifications of disease
congenital & hereditary diseases
inflammatory diseases
degenerative diseases
congenital & hereditary, inflammatory, degenerative, metaboli…
developmental disturbances; genetic abnormalities (hemophilia…
bacteria, allergic reactions, unknown etiology, & autoimmune…
tissue or organ degeneration as a result of aging or breakdow…
classifications of disease
congenital & hereditary, inflammatory, degenerative, metaboli…
congenital & hereditary diseases
developmental disturbances; genetic abnormalities (hemophilia…
40 terms
Chemotherapy of Neoplastic Diseases 2
What are the Pyrimidine analogs
5-Fluorouracil: MOA
5-Fluorouracil: MOA image
5-FLuorouracil Metabolism: What enz me…
What are the Pyrimidine analogs
5-Fluorouracil: MOA
16 terms
Renal Congenital Abnormalities and Diseases
Potter's Sequence
Polycystic Kidney Disease
Horseshoe kidney
Multicystic Dysplastic Kidneys
Oligohydramnios, pulmonary hypoplasia, extremity and facial a…
Autosomal recessive, Kidney and liver, hypertension
7% Turner's Syndrome, Wilms tumors (4X), renal function usual…
2nd most common flank mass, groups of cysts, usually non-func…
Potter's Sequence
Oligohydramnios, pulmonary hypoplasia, extremity and facial a…
Polycystic Kidney Disease
Autosomal recessive, Kidney and liver, hypertension
5 terms
Exercise Phys
congenital & hereditary diseases
inflammatory disease
degenerative disease
metabolic disease
german measles, hemophilia
hay fever, type 1 diabetes
osteoarthritis
diabetes, thyroid disease
congenital & hereditary diseases
german measles, hemophilia
inflammatory disease
hay fever, type 1 diabetes
57 terms
congenital heart diseases
congenital heart disease
A&P
first breath
congenital heart defects
most common cardiac problem in children... 8/1,000 births... >1% of…
(picture)... 4 chambers... 4 valves... left side receives oxygenated b…
pulmonary alveoli open up... pressure in pulmonary tissues decre…
any structural lesion in the heart or blood vessels that is d…
congenital heart disease
most common cardiac problem in children... 8/1,000 births... >1% of…
A&P
(picture)... 4 chambers... 4 valves... left side receives oxygenated b…
Congenital Diseases
Autosomal dominant
delayed lethal genotype
Osteogenesis imperfecta
osteogenesis imperfecta symptoms and t…
-inheritance of one allele causes the disorder ... -no carriers
disorder has been passed on to child without the diagnosis of…
-impaired collagen formation from a mutation in the COLIAI an…
- fractures ... - chipped teeth ... - bluish sclerae... - no treatment…
Autosomal dominant
-inheritance of one allele causes the disorder ... -no carriers
delayed lethal genotype
disorder has been passed on to child without the diagnosis of…
95 terms
Genetic/Metabolic diseases/syndromes nutritional excess/deficiency + potpourri
unilateral cafe-au-lait spots, polyost…
Hyperphagia, obesity, intellectual dis…
inappropriate laughter, seizures, atax…
Myopathy, lactic acidosis, CNS disease…
McCune-Albright syndrome... (mutation affecting G-protein signal…
Prader-Willi syndrome... (Maternal imprinting --> gene from mom…
Angelman syndrome... (Paternal imprinting --> gene from dad is n…
Mitochondrial myopathies
unilateral cafe-au-lait spots, polyost…
McCune-Albright syndrome... (mutation affecting G-protein signal…
Hyperphagia, obesity, intellectual dis…
Prader-Willi syndrome... (Maternal imprinting --> gene from mom…
12 terms
Technology & Diseases
MRI
MRIs are used to get a clear image of
MRIs trace the element of
CAT
Magnetic resonance imaging
Soft tissue
Hydrogen
Computer axial tomography
MRI
Magnetic resonance imaging
MRIs are used to get a clear image of
Soft tissue
9 terms
Disease Classfications
Disease Classifications
Congenital
Hereditary
Inflammatory
8 terms
Diseases present at birth and result from genetic or environm…
Diseases caused by developmental disorders genetically transm…
Disease that results from the body's reaction to a localized…
Disease Classifications
8 terms
Congenital
Diseases present at birth and result from genetic or environm…
46 terms
Block 7: Non-neoplastic and Neoplastic Diseases of the Liver
Describe basic mechanisms that can lea…
Drug or toxin- induced direct hepatocy…
hepatocellular damage
Vascular disease
(1) Drug or toxin... (2) Hepatic injury induced inflammatory res…
Acetaminophen in a dose dependent manner... Amanita phalloides m…
Cholestasis - oral contraceptives, estrogen... Hepatitis - alcoh…
Sinusoidal obstruction syndrome (veno-occlusive disease) - hi…
Describe basic mechanisms that can lea…
(1) Drug or toxin... (2) Hepatic injury induced inflammatory res…
Drug or toxin- induced direct hepatocy…
Acetaminophen in a dose dependent manner... Amanita phalloides m…
42 terms
1208 PATH Non Neoplastic Diseases
osteoblasts are rich in
osteocytes =
osteoid
4 congenital bone disease
alk phos
osteoblasts surrounded by osteoid
ECM of bone... type I collagen... calcium hydroxyapatite
osteogenesis imperfecta... osteopetrosis... achondroplasia... marfan's…
osteoblasts are rich in
alk phos
osteocytes =
osteoblasts surrounded by osteoid
73 terms
Diseases of GI_Esophagus and Non-Neoplastic Stomach Diseases
almost the entire GI tract shows ____…
What are the 4 microscopic layers of t…
The inner lining or the lumen (first l…
Under the mucosa is thin layer of smoo…
4
1. Mucosa... 2. Submucosa... 3. Muscularis Propria... 4. Serosa
crypts or glands
muscularis mucosa
almost the entire GI tract shows ____…
4
What are the 4 microscopic layers of t…
1. Mucosa... 2. Submucosa... 3. Muscularis Propria... 4. Serosa
Unit 1: Categories of Diseases
congenital
immunological
metabolic
neoplastic
arises before birth; may be genetic or environmental (AIDS, d…
invasion of body by foreign substance; usually causes inflamm…
disruptions to the process by which cells obtain and use ener…
disease due to abnormal growth of cells (cancer)
congenital
arises before birth; may be genetic or environmental (AIDS, d…
immunological
invasion of body by foreign substance; usually causes inflamm…
9 terms
Classifications of Disease
Classifications
Congenital and hereditary diseases
Congenital and hereditary causes
Congenital and hereditary types of dis…
1. Congenital and hereditary diseases... 2. Inflammatory disease…
Developmental disturbances
Genetic abnormalities; abnormalities in chromosome number or…
Hemophilia (hereditary), German measles (rubella) causes birt…
Classifications
1. Congenital and hereditary diseases... 2. Inflammatory disease…
Congenital and hereditary diseases
Developmental disturbances
53 terms
1-15: Neoplastic and Metabolic Neuropathology
neuronal storage diseases
Tay-Sachs disease
cherry-red spot (retina)
hexosaminidase A
inherited enzyme defects that lead to accumulation of normal…
lethal, autosomal recessive disorder caused by an inborn defi…
red spot seen in Tay-Sachs and several other neuronal storage…
enzyme responsible for degradation of gangliosides; deficienc…
neuronal storage diseases
inherited enzyme defects that lead to accumulation of normal…
Tay-Sachs disease
lethal, autosomal recessive disorder caused by an inborn defi…
6 terms
Etiology of diseases
Metabolic
Infectious
Congenital
Hereditary
When the body is out of balance; thryoid gland that controls…
Contagious from virus or bacteria
Forms when a fetus is forming; cleft lip.
Genetics, DNA. In family history; hemophilia
Metabolic
When the body is out of balance; thryoid gland that controls…
Infectious
Contagious from virus or bacteria
Chapter 4 Endocrine, Nutritional and Metabolic Diseases
Frequently used codes in chapter 4
E08 Diabetes mellitus due to underlying conditions
Frequently used codes in chapter 4
E08 Diabetes mellitus due to underlying conditions
Microbiology Packet - Infectious Diseases
9 Types of Infectious Diseases
Congenital Disease
Inherited Disease
Degenerative Disease
Congenital... Inherited... Degenerative... Iatrogenic... Idiopathic... Immun…
nongenetic. pathogen can go across placenta. Ex. german measl…
Leads to birth defect (abortion). Genetic Disorder. Disease t…
organs are deteriorating over time due to exercise and eating…
9 Types of Infectious Diseases
Congenital... Inherited... Degenerative... Iatrogenic... Idiopathic... Immun…
Congenital Disease
nongenetic. pathogen can go across placenta. Ex. german measl…
Molecular Basis of Disease Class 2
epidemiology
pathogenisis
etiology
genetic
Science that studies patterns, causes & effects of health and…
biological changes & mechanisms that lead to disease
cause of disease
DNA defects - single nucleotide or chromosomal abnormalities…
epidemiology
Science that studies patterns, causes & effects of health and…
pathogenisis
biological changes & mechanisms that lead to disease
138 terms
infection, bone tumors, endocrine, metabolic - radiology
brodie's abscess
coccidioidomycosis / valley fever / de…
maduromycosis / mycetoma / eumycetoma
blastomycosis / Gilchrist disease / No…
A 7 year old girl presents with high fever, swelling and pain…
A young man who visited the Southwestern US developed back pa…
An 82 y/o male farmer from Bangladesh presented to the hospit…
This distribution matches what disease best? (Values are no.…
brodie's abscess
A 7 year old girl presents with high fever, swelling and pain…
coccidioidomycosis / valley fever / de…
A young man who visited the Southwestern US developed back pa…
6 terms
Classifications of disease
Congenital and Hereditary disease
Inflammatory disease
Degenerative disease
Metabolic disease
- developmental disturbances... -causes : genetic abnormalities,…
body reacts to injury through an inflammatory process.
tissue or organ degeneration as a result of aging or breakdown.
disturbance in the metabolic process in body. ... ex: diabetes,…
Congenital and Hereditary disease
- developmental disturbances... -causes : genetic abnormalities,…
Inflammatory disease
body reacts to injury through an inflammatory process.
25 terms
Neoplastic Diseases
Carcinomas derive from
sarcomas derive from
malignant tumor ending in "-oma"
what is an "hamartoma"
epithelial malignant neoplasm
mesenchymal connective tissue malignant neoplasms
lymphoma, mesothelioma, melanoma, seminoma, blastoma. And end…
congenital malformation
Carcinomas derive from
epithelial malignant neoplasm
sarcomas derive from
mesenchymal connective tissue malignant neoplasms
8 terms
Digestive 16 (Liver disorders)
Signs sx of liver disease
Genetic liver disease
Congenital liver disease
Infections liver disease
Abdominal pain, jaundice, abnormal LFT's
Wilson's disease of copper retention, galactosemia
Biliary atresia, did not form complete biliary tree
Paracites, bacterial, viral hepatitis
Signs sx of liver disease
Abdominal pain, jaundice, abnormal LFT's
Genetic liver disease
Wilson's disease of copper retention, galactosemia
28 terms
Anterior Segment - Orbital Disease [With pics]
Orbital puslation
Bruit
Preceptal Cellulitis
Orbital Cellulitis
You detect a subtle pulsing at the slit lamp, or an exaggerat…
An audible vascular sound associated with turbulent blood flo…
This condition presents with NONE of the following:... Proptosi…
This condition is seen more in children than adults, and pres…
Orbital puslation
You detect a subtle pulsing at the slit lamp, or an exaggerat…
Bruit
An audible vascular sound associated with turbulent blood flo…
Etiology of disease
Metabolic
Infections
Congenital
Hereditary
When our body is in a balance
Contagious diseases, mostly from a virus or bacteria
Disorder while a fetus is is forming
Genetic disease or DNA passes through
Metabolic
When our body is in a balance
Infections
Contagious diseases, mostly from a virus or bacteria
Infectious Diseases of the Oral Cavity
Human Herpes Virus
Primary Herpetic Gingivostomatitis
Recurrent Intraoral Herpes and Herpes…
Herpetic Whitlow
-8 types... i. Herpes simplex type I (HHV-1): oral, ocular, uppe…
i. Etiology: Herpes Simplex 1, immunodeficiency release of vi…
i. Etiology: HSV 1... ii. Population: females ... iii. Location: li…
i. Etiology: HSV... ii. Population: Most common in dentists, hyg…
Human Herpes Virus
-8 types... i. Herpes simplex type I (HHV-1): oral, ocular, uppe…
Primary Herpetic Gingivostomatitis
i. Etiology: Herpes Simplex 1, immunodeficiency release of vi…
69 terms
Metabolic Disease
Inborn errors of metabolism occur in
Inborn errors of metabolism are caused…
When to consider metabolic diagnosis:…
Sweet smelling urine =
1 in 600 births, presenting as acute or chronic illness
enzyme deficiencies that exhibit autosomal or X-linked recess…
- Recurrent vomiting ... - Poor feeding/failure to thrive ... - Hep…
organic acidemia
Inborn errors of metabolism occur in
1 in 600 births, presenting as acute or chronic illness
Inborn errors of metabolism are caused…
enzyme deficiencies that exhibit autosomal or X-linked recess…
13 terms
Med Term Unit2 suffixes, prefixes
-genesis
-gnosis
-gram
ab-
forming, producing
knowing
record, writing
away
-genesis
forming, producing
-gnosis
knowing
Health and disease
Health
Disease
Symptoms
Diagnosis
A physic and mental state of well being
Anything that disrupts the bodies normal homeostatic imbalance
Physical signs of a disease
An educated guess of a course of treatment of a disease based…
Health
A physic and mental state of well being
Disease
Anything that disrupts the bodies normal homeostatic imbalance
13 terms
Amino Acid Metabolism diseases
Cystinuria
Hartnup Disease
Oxoprolinuria
Gyrate Atrophy of the Choroid and Reti…
Is due to an inherited dibasic amino acid transporter defect.…
Inherited defect in the LARGE neutral amino acid transporter.…
-Glutathione Synthetase (GS) deficiency... -Hemolytic anemia due…
-ORNITHINE AMINOTRANSFERASE (OAT) DEFICIENCY... -OAT DEFICIENCY…
Cystinuria
Is due to an inherited dibasic amino acid transporter defect.…
Hartnup Disease
Inherited defect in the LARGE neutral amino acid transporter.…
Introduction to Diseases - chapter 1
Hereditary Diseases
Congenital Diseases
Degenerative Diseases
Inflammation/autoimmunity/allergy
Hemophilia, sickle cell anemia, cystic fibrosis
Tetralogy of Fallot (heart abnormality)
Arteriosclerosis, osteoarthritis, Alzheimer's disease
Asthma, systemic lupus erythematosus, hay fever
Hereditary Diseases
Hemophilia, sickle cell anemia, cystic fibrosis
Congenital Diseases
Tetralogy of Fallot (heart abnormality)
105-05 example of disease
Hereditary
Congenital
Infectious
Deficiency
hemophilia: sickle cell
herpes; german measles; clubfoot
algae; fungi; yeast; molds
lack of vitamin C; anemia
Hereditary
hemophilia: sickle cell
Congenital
herpes; german measles; clubfoot
Ch 1: general concepts of disease
Disease
Lesions
Organic disease
Functional disease
Disturbance of body funtion or structure
Well-defined structural changes in organs cuz of disease
Disease assoc w structural changes
No morphologic abnormalities yet body functions are greatly d…
Disease
Disturbance of body funtion or structure
Lesions
Well-defined structural changes in organs cuz of disease
9 terms
Anatomy - Diseases
disease
lesion
symptom
diagnosis
an alteration of the normal state of the human body that impa…
a structural change to the body (wound, sore, rash, boil, etc…
sensation observed or "felt" by the patient; it cannot be mea…
process of identifying a disease (e.g. taking X-rays, blood t…
disease
an alteration of the normal state of the human body that impa…
lesion
a structural change to the body (wound, sore, rash, boil, etc…
Soft Tissue Tumors: Reactive & Neoplastic
Hamartoma
Teratoma
Choristoma
Parulis (Gumboil)
Proliferation of normal cells or tissue already present in th…
A tumor composed of tissue from all three germ layers namely…
Proliferation of normal tissue in an abnormal location... i.e. s…
i. Etiology: Pus from apex of a non-vital tooth or deep perio…
Hamartoma
Proliferation of normal cells or tissue already present in th…
Teratoma
A tumor composed of tissue from all three germ layers namely…
16 terms
Lecture 8- Congenital Defects & Diseases
Genetic Disease
Congenital Defect or Disease
Stage of development
Teratogen
An abnormality or lesion that is the result of one or more ab…
An abnormality or lesion that is present at birth.... May or may…
_______________ when injury occurs is an important factor in…
an agent that causes a defect in a developing fetus, results…
Genetic Disease
An abnormality or lesion that is the result of one or more ab…
Congenital Defect or Disease
An abnormality or lesion that is present at birth.... May or may…
22 terms
Congenital Defects and Diseases
Genetic Disease
Congenital Defect or Diesease
Teratogen
Aplasia
an abnormality or lesion that is the result of one or more ab…
an abnormality or lesion that is present at birth... usually due…
an agent that causes a defect in a developing fetus--> result…
failure or an organ or tissue to develop at all
Genetic Disease
an abnormality or lesion that is the result of one or more ab…
Congenital Defect or Diesease
an abnormality or lesion that is present at birth... usually due…
BMS PATHOLOGY
pathology
pathogen
acute
chronic
the study of disease
disease causing microrganism
rapid onset with a short severe course
long duration or frequent reccurence
pathology
the study of disease
pathogen
disease causing microrganism
64 terms
Non neoplastic diseases of large intestine
hepatic flexure
splenic flexure
what parts of the colon are peritoneal
superior mesenteric artery supplies wh…
between ascending and transverse colon
between descending and transverse colon
cecum, transverse colon, and sigmoid
from distal duodenum to distal 1/3 transverse colon
hepatic flexure
between ascending and transverse colon
splenic flexure
between descending and transverse colon
44 terms
Disease Process
Necrosis
Exacerbation
Obstruction
Predisposing cause
death of tissue
Flaring up of symptoms
Blockage of body fluids
Factors that contribute to the development of an illness
Necrosis
death of tissue
Exacerbation
Flaring up of symptoms
27 terms
Endocrine System and Diseases
Hypoglycemia
Hyperglycemia
Ketosis
Gigantism
low blood sugar
high blood sugar
the accumulation of ketone bodies in the blood and urine as a…
excessive size and stature of the body; usually caused by a t…
Hypoglycemia
low blood sugar
Hyperglycemia
high blood sugar
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