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acanthosis nigricans |
brown to black, poorly defined, velvety hyperpigmentation of the skin |
|
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 deteremined 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 |
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| 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 bind to acetylated lysines in histones |
| bronze diabetes |
bronze skin pigmentation seen in hemochromatosis, coupled with the
resultant diabetes |
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| 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 poroteins that bind 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 |
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| 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 |
| dystosis 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 |
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| ectopia lentis |
displacement of the crystalline lens of the eye |
| epigenetics |
refers to phenotype differences manifesting in the absence of genotype
differences; acting on the gene as opposed to by 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 |
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| favism |
a condition characterized by hemolytic anemia (breakup of red blood
cells) after eating fava beans (Vicia fava) |
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| gingival |
relating to the gums |
| glucosuria |
excess urinary glucose output |
| guggulsterone |
also called guggul (or guggal) or guggul lipid; is an extract from the Commiphora
mukul tree of India |
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| 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 |
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| 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 |
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| neuropathy |
disease or abnormality in the nervous system |
| nystagmus |
involuntary eye movements |
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| 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 |
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| 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 |
| proteosome |
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 |
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| 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 Amycolatopsis lurida
that used to be used to treat staphylococcal infections. Ristocetin
induces binding of von Willebrand factor to platelet glycoprotein Ib
(GPIb) |
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| 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 |
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| 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 |
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| urolithiasis |
urate kidney stones |
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| visceromegaly |
enlargement of the internal organs in the abdomen, such as liver,
spleen, stomach, kidneys, or pancreas |
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| xanthomas |
fat deposits in the skin and tendons |
Michael
W. King, Ph.D / IU School of Medicine / miking at iupui.edu
