Glossary of Terms used in The Medical Biochemistry Page

acanthosis nigricans

brown to black, poorly defined, velvety hyperpigmentation of the skin

afferent neurons

neurons that project into the cortex of the brain; sensory neurons are afferents

amenorrhea

lack of menses

angiokeratoma

benign cutaneous injury of capillaries resulting in small lesions on the skin; typically having a red to blue color

angiokeratoma corporus diffusum

hyperkeratinized deep-red to blue-black skin lesions

anion gap

defined as difference in concentration of cations other than Na+ and anions other than Cl- and HCO3–; value determined by equation as follows [Na+ – Cl– + HCO3–)]

apoptosis

term defining the process of programmed cell death

arachnodactyly

abnormally long and slender fingers and toes

arcus cornea

whitish ring on the peripheral cornea

argonaute

proteins that are components of the RISC

articular cartilage

cartilage covering the bony ends of the articulating joints

ataxia

inability to coordinate voluntary muscle movements; unsteady movements and staggering gait

atheromas

fat deposits in the arteries

atherosclerosis

condition in which an artery wall thickens as the result of a build up of fatty materials such as cholesterol

atlantoaxial subluxation

a mis-alignment between the 1st and 2nd cervical vertebrae

axial hypotonia

a floppiness associated with the inability to sit

Babinski reflex

the great toe flexes toward the top of the foot and the other toes fan out after the sole of the foot has been firmly stroked; also known as the extensor plantar reflex

bilirubin encephalopathy

characterized by yellow discoloration of the basal ganglia in babies with intense jaundice; commonly referred to as kernicterus

bradykinesia

slowed ability to start or stop movements

bromodomain

domain in proteins that binds to acetylated lysines in histones

bronze diabetes

bronze skin pigmentation seen in hemochromatosis, coupled with the resultant diabetes

calculi

stones, such as those found in kidney or gall bladder

cherry-red spot

a red circular area surrounded by gray-white retina as seen during an eye examination typical in lysosoaml storage diseases such as Tay-Sachs disease

choanal atresia

blockage in the back of the nasal passage

chordae tendineae

tendons that connect the papillary muscles to the tricuspid and mitral valves

choreoathetosis

occurrence of involuntary movements in combination with chorea which itself refers to irregular, rapid, uncontrolled, and excessive movements

chromodomain

domain in proteins that binds to methylated histones

Cooley anemia

is thalassemia major which refers to thalassemias associated with total loss of β-globin (referred to as β0-thalassemia) or partial loss (referred to as β+-thalassemia)

coxa valga

deformity of the hip where the angle formed between the head and neck of the femur and its shaft is increased

craniosynostosis

premature fusion of the cranial sutures

decerebrate posturing

an abnormal body posture that involves the arms and legs being held straight out, the toes being pointed downward, and the head and neck being arched backwards

dentigerous cysts

an odontogenic cyst associated with the crown of an unerupted, or partially erupted, tooth

diaphyses

the main or mid section (shaft) of the long bones

direct bilirubin

when bilirubin is conjugated to glucuronate the measurement of this form of bilirubin does not require addition of alcohol to promote the azotization reaction used for determining bilirubin concentration

dolichocephaly

elongated skull

dolichostenomelia

condition of unusually long and thin extremities

dysarthria

difficulty in articulating words caused by impairment of the muscles used in speech

dysmetria

lack of coordination of movements characterized by under- or over-shooting intended position

dysmorphic

relating to a body characteristic that is abnormally formed

dysphagia

disordered eating

dysplasia

abnormal development or growth of tissues, organs, or cells

dystonia

abnormal tonicity of muscle characterized by prolonged, repetitive muscle contractions that may cause twisting or jerking movements

dysostosis multiplex

characterized by an enlarged skull, thickened calvarium, premature closure of lamboid and sagittal sutures, shallow orbits, enlarged J-shaped sella and abnormal spacing of the teeth with dentigerous cysts

ectopia lentis

displacement of the crystalline lens of the eye

efferent neurons

neurons that project out of the cortex of the brain; motor neurons are efferents

epigenetics

refers to phenotype differences manifesting in the absence of genotype differences; acting

the gene as opposed to

the gene

epiphyseal

relating to the growth area near the end of a bone

epistaxis

relating to the nose

esophageal varices

extremely dilated sub-mucosal veins in the esophagus

exomphalos

an umbilical hernia at birth in which some abdominal organs push into the umbilical cord

extensor plantar response

extension of the big toe and fanning of the other toes in response to stimulation of the bottom of the foot; more commonly known as the Babinski reflex

favism

a condition characterized by hemolytic anemia (breakup of red blood cells) after eating fava beans (Vicia fava)

gingival

relating to the gums

glucosuria

excess urinary glucose output

guggulsterone

also called guggul (or guggal) or guggul lipid; is an extract from the

tree of India

hamartin

protein encoded by the tuberous sclerosis 1 (TSC1) gene

hemarthroses

bleeding in the joints

hemochromatosis

a disorder in iron metabolism that is characterized by excess iron absorption, saturation of iron-binding proteins and deposition of hemosiderin (amorphous iron deposits) in the tissues

hemodialysis

a method for removing waste products such as potassium and urea, as well as free water from the blood when the kidneys are in renal failure

hydrops fetalis

a condition in the fetus characterized by an accumulation of fluid, or edema, in at least two fetal compartments, including the subcutaneous tissue, pleura, pericardium, or in the abdomen

hyperlordosis

exaggerated lumbar curvature of the spine

hypermetric saccades

fast movement of the eyes

hyperphagia

excessive hunger and abnormally large intake of solid foods

hyperreflexia

defined as overactive or over responsive reflexes

hypertelorism

an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the eyes

hypertrichosis

excessive growth of hair in locations where it is not normally found

hypogonadism

a defect of the reproductive system that results in lack of function of the gonads (ovaries or testes).

hypoplasia

underdevelopment or incomplete development of a tissue or organ

hypotonia

a disorder that causes low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength

hypsarrhythmia

abnormal EKG patterns observed in infants suffering spasms

icteric

yellowish

immunophilin

intracellular proteins that binds to immunosuppressive drugs such as FK506 and rapamycin

imprinting

process whereby expression of a given gene is determined by the parental origin; involves differential DNA methylation

incretin

any substance/hormone that induces insulin release from the pancreas in response to food intake

indirect bilirubin

when bilirubin is not conjugated to glucuronate the measurement of this form of bilirubin requires the addition of alcohol to promote the azotization reaction used for determining bilirubin concentration

kernicterus

this is ilirubin encephalopathy which is characterized by yellow discoloration of the basal ganglia in babies with intense jaundice

kwashiorkor

a form of malnutrition that occurs when there is not enough protein in the diet

kyphoscoliosis

an abnormal curvature of the spine in both the coronal and sagittal planes, a term combined from kyphosis and scoliosis

leukopenia

decreased white blood cell count

lipoxin

anti-inflammatory eicosanoids synthesized through lipoxygenase interactions, hence the derivation of the name

lumbar lordosis

excessive inward curvature of the lower spine

macrocephaly

refers to a head circumference greater than two standard deviations above the mean for age, sex, race and gestation

macroglossia

enlarged tongue

macroorchidism

large testicles

menorrhagia

an abnormally heavy and prolonged menstrual period at regular intervals

metabolic acidosis

a disturbance in the body's acid-base balance that results in excessive acidity of the blood; due to increased production of H+ by the body or the inability of the body to form bicarbonate; usually causes rapid breathing, confusion or lethargy may also occur

metabolic alkalosis

a disturbance in the body's acid-base balance that results in excessive alkalinity of the blood caused by an elevation in plasma bicarbonate (HCO3–) concentration; in most cases, metabolic alkalosis is caused by loss of hydrochloric acid (HCl) through the kidney or GI tract, especially due to vomiting

metaphyses

the wider portion of a long bone adjacent to the epiphyseal plate; the part of the bone that grows during childhood

microcephaly

head circumference that is at least 2 standard deviations smaller than normal

micrognathia

abnormally small lower jaw

myoclonic epilepsy

a form of epilepsy associated with involuntary muscle twitching

myoclonus

involuntary muscle twitching

neuropathy

disease or abnormality in the nervous system

nystagmus

involuntary eye movements

ocular proptosis

abnormal protrusion of the eyeball

oculomotor apraxia

difficulty in moving the eyes from side to side

odontoid hypoplasia

decreased ossification of the odontoid bone which is the anterior process of the second vertebra

ophthalmoplegia

paralysis or weakness of one or more of the muscles that control eye movement

paraparesis

weakness in the lower extremities

parathesis

 an abnormal sensation of the skin, such as numbness, tingling due to poor circulation in the limbs

pectus carinatum

also called pigeon chest, is a deformity of the chest characterized by a protrusion of the sternum and ribs

pectus excavatum

also called funnel chest, a condition in which the ribs and sternum grow inward producing a concave appearance of the anterior chest wall

peroxin

name for any of several proteins/enzymes functioning in the peroxisomes; usually the proteins are identified as PEX followed by a number, e.g. PEX1

platyspodylia

flatness of the bodies of the vertebrae

pneumothorax

abnormal presence of air in the pleural cavity resulting in the collapse of the lung

polydactyly

refers to extra fingers and/or toes

polydypsia

increased thirst

polyphagia

increased appetite

polysomes

also called polyribosomes, are a cluster of ribosomes, bound to a mRNA

polyuria

excess urinary water and electrolyte output

primary amenorrhea

failure of menses to occur by age 16

prosaposin

precursor protein for the saposins; designated as SAP-A, -B, C, and -D

proteasome

machinery in the cell for targeted destruction of proteins

ptosis

drooping eyelids

purpura fulminans

hemorrhagic condition usually associated with infection or sepsis

purpuric skin bleeding

bleeding from purplish patches on the skin

resolvin: Rv

eicosanoid derivatives that have anti-inflammatory actions that lead to the resolution of the inflammatory cycle, hence the derivation of their names as resolvins

respiratory acidosis

abnormal decrease in the pH of the blood (acidosis) due to decreased ventilation of the pulmonary alveoli, leading to elevated arterial carbon dioxide concentration; primarily caused by alveolar hypoventilation

respiratory alkalosis

results from increased alveolar respiration (hyperventilation) leading to decreased plasma carbon dioxide concentration which leads to decreased hydrogen ion and freely ionized blood calcium concentrations

ristocetin

an antibiotic isolated from

that used to be used to treat staphylococcal infections. Ristocetin induces binding of von Willebrand factor to platelet glycoprotein Ib (GPIb)

saposin

any member of a small glycoprotein family required for the hydrolysis of sphingolipids by specific lysosomal hydrolases; identifed as SAP-A, -B, -C, and -D

scoliosis

a medical condition in which a person's spine is curved from side to side, shaped like an "S"

sirtuin

human homolog of yeast silent information regulator 2, Sir2

spastic paraparesis

characterized by spasms associated with weakness in the lower extremities

steatosis

describing the abnormal retention of lipids within a cell. It reflects an impairment of the normal processes of synthesis and elimination of triglyceride fat

strabismus

a disorder in which the eyes do not line up in the same direction when focusing

syndactyly

fusion of the fingers and/or toes, results in webbing of the digits, occurs with a frequency of 1 in 2,000 to 1 in 3,000 live births making it the most common congenital malformation of the limbs

telangiectasias

small dilated vessels near the surface of the ski

tenase complex

clotting cascade protein complex

thalassemia

a term relating to any genetic defect that results in reduced rate of synthesis of one of the globin chains that make up hemoglobin

thrombocytopenia

low platelet count

tophaceous deposits

sandy, gritty, nodular masses of urate crystals typical in patients with gout

tuberin

protein encoded by the tuberous sclerosis 2 (TSC2) gene

urolithiasis

urate kidney stones

visceromegaly

enlargement of the internal organs in the abdomen, such as liver, spleen, stomach, kidneys, or pancreas

xanthomas

fat deposits in the skin and tendons