Pathology Quiz Compilation

Nonsense

Replacement of one amino acid with a stop codon is a ___ mutation

missense

alter the meaning of the sequence of encoded protein

Polymorphism

Complex multigenic disorders are associated with genetic variances in multiple alleles known as:

non conservative

Point mutations that do have significant adverse consequences

conservative

loss of protein function

monogenic

mendellian disorders

Frame shift mutation

type of mutation which results when one or two nucleotide is deleted or inserted at the coding frame

Pleiotropism

Terminology defined when a single gene is manifested by a variety of end effects

75%

Supposedly a condition is AD, the abnormal allele is present heterozygously on both the male and female. What is the probability of the child of having the disease?

50%

Supposedly a condition is AR, the abnormal allele is present homozygous in the male which is mated to a carrier female. What is the probability of the child of having the disease?

Autosomal recessive

Complete penetrance \n

Autosomal dominant

Expression is frequently in adulthood

Guanine, Adenine, Tymine, Uracil, Cytosine

Triplet-repeat mutations involves amplification of trinucleotides consisting of what specific base? Give 1 (spell out the answer)

Genomic Imprinting

Non-classical pattern of inheritance associated with uniparental disomy is seen in disorders in

Loss-of-Function mutation

Reduced protein synthesis is classified as what type of mutation in proteins?

Maternal

Mitochondrial gene mutation: Pattern of inheritance

After

Gonadal mosaicism occurs _____ fertilization

Trisomy

Better prognosis: _____ of autosomes

Anaphase Lag

What mechanism in aneuploidy results to 1 normal & 1 monosomy

Ring Chromosome

Chromosomal abnormality resulting from when there is a terminal deletion of both arms which in turn bind with each other.

47, XY, +13

Karyotype of a 2 y/o male, with Patau syndrome (i.e. trisomy 13)

Trisomy 13 (Patau syndrome)

microcephaly, polydactyly, microcephaly, cleft palate

Klinefelter sydrome

* hypogonadism
* two or more X chromosomes/Y chromosome
* elongated body, reduced size of tested, lower testosterones
* Classic pattern of 47XXY

Turner syndrome

complete or partial monosomy; hypogonadism in phenotypic female

True Hermaphodite

presence of both ovarian and testicular tissue

pseudohermaphrodite

disagreement between phenotype and gonadal sex

p (petit)

denotes short arm of a chromosome

q

long arm of the chromosome

Xp21.2

region 2, band1 and sub-band2

Edward syndrome

Trisomy 18 : (47XX + 18) ; mosaic type - (46XX/47XX+18)

occiput, micrognathia

Fragile X syndrome

mutation is characterized by long repeatingsequence of three nucleiotides

macro-orchidism

Pericentric

This karyotype 46, XX, inv(12)(q12p31) is indicative of what type of inversion?

PAracentric

Inversion that involves only one arm of chromosomes

Fragile X tremor/ataxia

FMR1 is toxic

progressive neurodegenerative syndrome starting in their sixth decade

abundant

Stroma of scirrhous tumors is

Angiosarcoma

Malignant tumors of blood vessels

True

Dermoid cysts are immature teratomas.

hyper

Chromatin of the anaplastic cells are _____chromatic

dysplasia

Pleomorphism is characteristic of

poorly

Metastasis correlates with _____differentiated tumors

Skip metastasis

Type of metastasis in which local lymph nodes are bypassed during lymphatic spread

\n

Carcinoma in Situ

Also known as preinvasive neoplasm of epithelial tissue

Lungs

Metastasis through caval route usually rests in what organ?

loss-of-function (c)

Cancer-causing mutation usually involves _____-of-function mutation of genes whose products promote apoptosis

Veins

More susceptible to invasion prior to hematogenous spread.

Mutator Phenotype

Term that denote the phenotype of cells with genomic instability

ataxia-telangiectasia

inability to repair kinds of DNA damage

Warburg effect

aerobic glycolysis

high level of glucose uptake - glucose to lactose (fermentation) with glycolitic pathway

driver

Type of mutations that contribute to the development of malignant phenotype

True

Proto-oncogenes are normally growth-promoting

1-2 mm

 Neovascularization is most apt to support solid tumors, if the size goes beyond what range?

small

Self-antigens who fail to induce self-tolerance are normally produced in _____  quantities

false

Cell-type specific differentiation antigens induce immune response

down

Costimulatory factors on APCs are _____-regulated by tumors.

suppressor

In immune escape, what type of T cells are induced by tumors?

nonendocrine

Paraneoplastic syndromes related to elevated hormone levels are attributed to_____ tumors

Human Papilloma Virus

carcinoma in cervix

Epstein barr virus

tumors like burkitt lymphoma

B-cell lymphoma with T cell immunosuppression

Passenger mitations

clones

Xenobiotics

exogenous chemicals that is present in the env

lipophilic

most solvents are

Phase 1: detoxification

hydrolysis, oxidation or reduction

Radon

Radioactive gas derived from uranium

Bioaerosols

pathogenic microbial agents

Legionnaires disease

grave type of pnemonia

Pontiac fever

Viral pneumonia

flu virus; lungs affectation

Formaldehyde

common carcinogenic bio-aerosol

Lead

Pb

effect - hematologic, skeletal, neurologic, GI, renal toxicities

Mercury

damaging to CNS and kidney

Minamata episode

disease of mercury poisoning

Arsenic

combination of sulfur and metals

Poison of king and the king of poisons

Cadmium

kidney and lungs

necrosis of alveolar epithelial cells

skeletal abnormalities

calcium loss

Chloroform

colorless strong smelling dense liquid

pesticide and film production

Carbon tetrachloride

sweet and clear

cleaning agent

liver and kidney

s/sx- headache, weakness, lethargy, nausea and vomiting

metal degreaser

Benzene

light yellow

cell malfunction

crude oil and part of gasoline

plastics and resins, detergents

1,3- Butadiene

petrolium, synthetic fibers

Polycyclic hydrocarbons

occur naturally in coal, crude oil and gasoline

potent carcinogenic

dyes, plastic and pesticides

DDT

insecticide

Lindane

gemma benzene hexachloride

insecticide

Aldrin

insecticide > skin absorption

Vinyl Chloride

development of angiosarcoma

BisphenolA

polycarbonate food

potential endocrine disruptor

how to mimic hormones and disrupts endocrine systems

Tobacco

nicotine and alkaloid

Alcohol

AUD - relapsing brain disease

Graves Disease

most common cause of endogenous hyperthyroidism

calcium

function of the parathyroid glands is to regulate the hemostasis of?

Primary hyperparathyroidism

autonomous overproduction of PTH, usually resulting from an adenoma or hyperplasia of parathyroid tissue

antidiuretic hormone

hormone secreted by the posterior pituitary gland

lactotrph adenoma

type of adenoma is the most common type of hyperfunctioning pituitary adenoma accounting for about 30% of clinically recognized cases

Somatotroph adenoma

second most common type of functioning pituitary adenoma that causes gigantism in children and acromegaly in adults

Corticotroph adenoma

usually microadenomas at the time of diagnosis

stained (+) i nperiodic acid-schiff

Cushing syndrome

hypercortisolism

ACTH in adrenal cortex

Nelson syndrome

loss of inhibitory effect on adrenal corticosteroids on preexisting corticotroph microadenoma

Gonadotroph

Lutenizing hormone and follicle stimulating hormone

Thyrotroph

uncommon cause

hyperthridism rare

Alpha cells

specific cell type in the islets of langerhans produce glucagons

islets of langerhans

pancreatic islets that contains hormone producing cells

char of type 2 DM

onset in adulthood

no islets autoantibodies

insulin resistance in peripheral tissues

classic triad of DM

polyuria, polydipsia, polyphagia

Pheochromocytoma

neoplasm is composed of chromaffincells which synthesize and release catecholamines and in some instance, peptide hormones: