12 - Glossary Flashcards
1
Q
What are Acini?
A
Cluster of secretory cells with a center cavity that resembles a berry in shape.
2
Q
Define Acrodynia.
A
The distal aspect of the digits in the hands and feet are painful and tender to light touch.
3
Q
What are Acroparesthesias?
A
Burning or tingling as well as numbness in the extremities, noted most often upon waking.
4
Q
What does an increase in serum alkaline phosphatase (ALP) usually indicate?
A
Cholestasis, where the flow of bile from the liver is slowed or blocked.
5
Q
What are Alpha-limit dextrins?
A
Short chain polymers of glucose with branching after incomplete digestion by alpha amylase.
6
Q
What does Amphiphilic refer to?
A
A molecule that is bipolar in its relationship to water.
7
Q
What is an Anion gap?
A
Used to detect and analyze acid-base disorders; AG = [Na+] − ([Cl−] + [HCO3−]).
8
Q
What are Anthropometric measurements?
A
Systematic quantitative measurements of the human body, including muscle, bone, and adipose tissue.
9
Q
Define Antiendomysial antibody.
A
The IgA antibody reacting to the smooth muscle endomysium, highly specific for celiac disease.
10
Q
What is an Antigliadin antibody?
A
An IgA antibody to screen for celiac disorder, sensitive but less specific than tTG.
11
Q
What is an Antiporter?
A
A membrane transport protein that transports two different molecules in opposite directions.
12
Q
What does the APGAR score assess?
A
An infant’s well-being immediately following birth based on Appearance, Pulse, Grimace, Activity, and Respiration.
13
Q
What is Apolipoprotein?
A
Amphipathic molecules that interact with plasma and bind to lipids forming lipoproteins.
14
Q
What are Aquaporins?
A
Water channels.
15
Q
Define Arthropathy.
A
Any disorder of the joint, whether inflammatory or noninflammatory.
16
Q
What is Ascorbic acid?
A
Chemical name of vitamin C, originally coined to mean ‘against scurvy.’
17
Q
What do AST/ALT blood tests indicate?
A
Markers for detecting or monitoring liver damage.
18
Q
What is Asterixis?
A
Rhythmic spastic flapping of the hands, a sign of encephalopathy.
19
Q
Define Ataxia.
A
Impaired balance or coordination.
20
Q
What is Athetosis?
A
A movement disorder characterized by slow writhing movements.
21
Q
What are ATP7 A and B responsible for?
A
Release of copper from enterocyte into the portal vein and into general circulation.
22
Q
What does Beriberi refer to?
A
A condition caused by severe thiamine deficiency.
23
Q
What are Beta-blockers?
A
Medications commonly used to treat hypertension.
24
Q
What is Betaine’s role?
A
Provides an alternate remethylation pathway for homocysteine.
25
What are Bibasilar crackles?
Abnormal sounds originating from the base of the lungs.
26
What does Blood urea nitrogen (BUN) measure?
The ability of the kidneys to excrete nitrogenous waste in the form of urea.
27
What does BMI stand for?
Body mass index, an indicator of body fat based on height and weight.
28
Define Camptodactyly.
A condition where a finger is fixed in a bent position at the middle joint.
29
What are Carboxylases?
Enzymes that remove CO2 from the carboxyl group of an alpha amino keto acid.
30
What is Carboxylation?
Reactions requiring HCO3−, ATP, and biotin, adding a carboxylic acid group to a protein.
31
What does the term 'carcinoid' refer to?
A class of tumors with morphology not typical of malignancy.
32
What is Cardiac catheterization?
A medical procedure used to diagnose and treat heart conditions.
33
What is Carnitine deficiency?
Inability to transport long-chain fatty acids into mitochondria for energy production.
34
What is the Carnitine shuttle?
Allows transport of long-chain fatty acids into the mitochondrial matrix.
35
What does CBC stand for?
Complete blood count, including various blood parameters.
36
What is Ceruloplasmin?
The major transporter of copper in the vascular space.
37
Define Cholecystectomy.
Surgical removal of the gallbladder.
38
What does Choledocholithiasis refer to?
Stone lodged in the common bile duct.
39
What are Cholelithiasis?
Formation of gallstones.
40
What is Cholestasis?
Any obstruction to bile flow.
41
What does Cholesteryl ester transfer protein (CETP) do?
Facilitates the transfer of cholesteryl from HDL to VLDL.
42
Define Choreoathetosis.
Involuntary writhing movements.
43
What is Clubbing?
Deformity of finger or toe nails associated with various diseases.
44
What are Cofactors?
Nonprotein molecules essential for enzyme activation.
45
What is Compartment syndrome?
Bleeding into a closed space in the muscles, leading to ischemia.
46
Define Consanguinity.
Blood relationship between individuals.
47
What is a Contusion?
Bruise.
48
What does the Coombs test determine?
Presence of antibodies against red blood cells.
49
What are Copper chaperones?
Small metalloproteins that move copper ions in the cell.
50
What is the function of Copper membrane transporter (CMT-1)?
Transporter for copper at the cell membrane of enterocytes and hepatocytes.
51
What is the Corpus callosum?
The primary region of the brain that connects the left and right cerebral hemispheres.
52
What is Crescendo angina?
Acute episodes of chest pain occurring with increasing frequency.
53
What does CT enterography involve?
CAT scan of the abdomen utilizing oral contrast material.
54
What is Cushing disease?
Symptoms of hypercortisolism due to excess ACTH from a pituitary adenoma.
55
Define Cushing syndrome.
Any cause of hypercortisolism, including Cushing disease.
56
What does Cyanosis indicate?
Lack of oxygenation resulting in bluish discoloration of the skin.
57
What is the Cystic artery?
An end-organ artery as a terminal branch of the right hepatic artery.
58
What is Cytochrome c oxidase?
The last of the enzymes of the electron transport chain located in the mitochondria.
59
What does d-Dimer indicate?
A marker of activation of coagulation and fibrinolysis.
60
What is the Degree of penetrance?
The proportion of individuals with a genetic variant expressing an observable characteristic.
61
What is Delirium tremens?
Severe mental changes due to alcohol withdrawal.
62
What characterizes Dermatitis herpetiformis?
A pruritic papular skin eruption associated with celiac disease.
63
What does Diathesis refer to?
Tendency toward a problem such as a bleeding diathesis.
64
What is DiGeorge syndrome?
Result of gene deletions on chromosome 22, characterized by various developmental issues.
65
What are Disaccharidases?
Brush border enzymes that hydrolyze disaccharides.
66
What is a Disaccharide?
Products of a condensation reaction between two monosaccharides.
67
Define Dyscrasia.
Referring to a disease or disorder, often used with hematologic disorders.
68
What is Dysostosis multiplex?
An indicator of lysosomal storage diseases caused by mucopolysaccharide accumulation.
69
What does Dyspnea mean?
Shortness of breath with a feeling of air hunger.
70
What is Dystonia?
A movement disorder characterized by involuntary muscle spasms.
71
What are Ecchymoses?
The largest hemorrhagic lesions under the skin, larger than 10 mm.
72
Define Echinocytes.
Red blood cells with thorny projections.
73
What is Ectopia lentis?
Lens dislocation, typically upward in Marfan syndrome.
74
What is the Edema rating scale?
A scale from +1 to +4 to grade the degree of pitting edema.
75
What are ecchymoses?
The largest hemorrhagic lesions under the skin, with a diameter larger than 10 mm
## Footnote
Compared to petechiae and purpura.
76
What are echinocytes?
Red blood cells with thorny projections
## Footnote
Echinocytes are also referred to as 'burr cells'.
77
What is ectopia lentis?
Lens dislocation, typically upward in Marfan syndrome and downward in homocystinuria
## Footnote
It is a key feature in both conditions.
78
How is edema rated?
On a scale from +1 to +4, with +1 being slight and +4 being quite severe
## Footnote
This scale is used to describe the degree of pitting edema.
79
Who is Edgar von Gierke?
A German physician who first described type I glycogen storage disease
## Footnote
His work laid the foundation for understanding metabolic diseases.
80
What is an embolus?
A floating intravascular clot
## Footnote
Emboli can cause blockages in blood vessels.
81
Define encephalopathy.
Malfunction of the brain resulting in altered sensorium
## Footnote
Common causes include infection, toxins, end-stage liver disease, renal failure, and nutritional deficiency.
82
What are endosomes?
Membrane-bound compartments inside of the cell
## Footnote
They play a role in transporting materials within the cell.
83
What are enterochromaffin cells (EC)?
Specialized cells found throughout the gut that produce serotonin
## Footnote
They respond to neuronal and endocrine stimulation to regulate peristalsis.
84
What is the function of enterochromaffin-like cells (ECL)?
To release histamine to stimulate parietal cells to secrete gastrin
## Footnote
ECL cells are located in the stomach adjacent to parietal cells.
85
What does enzymopathy describe?
A genetic disease caused by an enzyme deficiency
## Footnote
It affects metabolic processes in the body.
86
What is epistaxis?
Nose bleed
## Footnote
It can be caused by various factors, including trauma and environmental irritants.
87
Describe Fanconi syndrome.
A result of injury to the proximal renal tubule
## Footnote
It was first described by a Swiss physician in the early 1900s.
88
What does FAOD stand for?
Fatty acid oxidation disorder
## Footnote
These disorders affect the body's ability to oxidize fatty acids for energy.
89
What role do fatty acids play in the body?
They are an energy source for all organs except the brain and red blood cells
## Footnote
During starvation, fatty acids are converted in the liver to ketone bodies for brain energy.
90
What is a fecal occult blood test (FOBT)?
A test that detects occult blood in the stool
## Footnote
It is commonly used for colorectal cancer screening.
91
What are fetal alcohol spectrum disorders (FASD)?
Conditions resulting from prenatal exposure to alcohol, including learning and behavioral problems
## Footnote
Fetal alcohol syndrome (FAS) is at the severe end of this spectrum.
92
What is fomepizole?
A potent inhibitor of alcohol dehydrogenase used to prevent the formation of toxic metabolites
## Footnote
It is used as a therapeutic agent in cases of methanol or ethylene glycol poisoning.
93
What does forme fruste refer to?
An attenuated or unusual presentation of a known illness
## Footnote
It highlights variability in disease manifestation.
94
What is fructose intolerance?
A defect in the absorption of fructose in the gut, leading to symptoms similar to lactase deficiency
## Footnote
Symptoms include gas, bloating, abdominal pain, and diarrhea.
95
What is galactitol?
The untoward by-product in galactosemia
## Footnote
It contributes to the complications of the disorder.
96
What are gangliosides?
Sugar-lipid components of neural membranes involved in impulse transmission
## Footnote
They are found in neural tissues and the retina.
97
What is gangrenous cholecystitis?
A complication of acute cholecystitis due to circulatory compromise of the cystic artery
## Footnote
It results in acute ischemia.
98
What is ghrelin?
A hormone originating in the stomach and hypothalamus that increases food intake
## Footnote
Known as the 'hunger hormone', it stimulates appetite.
99
What are GLA proteins?
Proteins with a high number of gamma carboxyglutamate residues
## Footnote
Vitamin K is a cofactor in their carboxylation, crucial for coagulation factors.
100
What is glossitis?
Inflammation of the tongue leading to a smooth and shiny appearance
## Footnote
It can be associated with various nutritional deficiencies.
101
What are glycoconjugates?
Proteins, peptides, and lipids linked to a sugar
## Footnote
They play important roles in cell signaling and recognition.
102
What does 'gravida 2 para 2' mean?
Two pregnancies with delivery of two children
## Footnote
This terminology is used in obstetrics.
103
What does Hb stand for?
The amount of hemoglobin in a volume of blood
## Footnote
It is a critical measure in evaluating anemia.
104
What does Hct indicate?
The percent of blood volume composed of red blood cells
## Footnote
It is used to assess anemia and hydration status.
105
What is heavy metal poisoning?
Toxic effects resulting from consuming lead, mercury, arsenic, or cadmium
## Footnote
It can lead to various health complications.
106
What does HEENT stand for?
Head, ears, eyes, nose, and throat
## Footnote
It refers to a part of a physical examination.
107
What is hemarthrosis?
Bleeding into joints, commonly seen in hemophilia
## Footnote
It can lead to joint damage and pain.
108
What is a hematest?
A test used to detect occult blood in the stool
## Footnote
It is similar to the Hemoccult test.
109
What is a hematoma?
A localized collection of blood outside of blood vessels due to a ruptured vessel
## Footnote
They can occur in various tissues and organs.
110
What is hematuria?
The presence of red blood cells in the urine
## Footnote
It can indicate various underlying conditions.
111
Where does heme synthesis predominantly occur?
In the liver and erythroid cells of the bone marrow
## Footnote
Heme is assembled into hemoglobin, myoglobin, and cytochromes.
112
What are hemin and hematin?
Pharmacologically stable forms of heme
## Footnote
They are used in medical treatments.
113
What does hemolysis refer to?
The premature destruction of red blood cells
## Footnote
It can occur intravascularly or extravascularly.
114
What is hepatic encephalopathy?
Mental status changes associated with cirrhosis and metabolic liver failure due to ammonia accumulation
## Footnote
It can manifest as confusion, altered consciousness, and coma.
115
What does HEXA stand for?
The HEX gene that codes for the alpha subunit of hexosaminidase A
## Footnote
It is involved in lysosomal function.
116
What is hirsutism?
Excess growth of hair on the body, often male-pattern in females
## Footnote
It suggests an underlying endocrine abnormality.
117
What does homocysteinemia indicate?
Elevated levels of homocysteine in blood
## Footnote
It may be associated with cardiovascular disease.
118
What is homocystinuria?
Elevated levels of homocysteine in urine due to enzyme deficiencies
## Footnote
It is associated with various complications, including thromboembolic events.
119
What is hydroxylase?
An enzyme that facilitates the addition of a hydroxyl (OH) group to an organic compound
## Footnote
It plays a role in various metabolic pathways.
120
What is hypersomnia?
A sleeping disorder characterized by prolonged night sleep and excessive daytime sleepiness
## Footnote
It may be secondary to other medical conditions.
121
What is hypocapnia?
Decreased CO2 levels in blood
## Footnote
It can occur in various respiratory conditions.
122
What does hyporeflexia mean?
Diminished deep tendon reflexes
## Footnote
It can indicate neurological conditions.
123
What is hypotonia?
Diminished resistance to passive movement of muscles
## Footnote
It often presents as soft, floppy muscles.
124
What is hypoxemia?
Abnormally low level of oxygen in the blood
## Footnote
It is one of the four major categories of hypoxia.
125
What does hypoxia refer to?
Decreased oxygen concentration at the tissue level, with or without hypoxemia
## Footnote
It can lead to cellular injury.
126
What is iatrogenic illness?
Untoward or unintended illness caused by medical intervention
## Footnote
It highlights the risks associated with medical treatments.
127
What is IgA deficiency?
A common clinical occurrence where patients lack IgA antibodies
## Footnote
This can lead to false negative results in celiac disease testing.
128
What are inborn errors of metabolism (IEM)?
Congenital metabolic disorders disrupting nutrient breakdown and energy generation
## Footnote
They lead to clinically significant findings.
129
What is an index case?
The first case of an infectious disease or genetically transmitted condition that comes to attention
## Footnote
It is crucial for epidemiological studies.
130
What does indolent mean in a medical context?
A disease that is progressing slowly
## Footnote
It often indicates a chronic condition.
131
Where is the inferior petrosal sinus located?
Bilateral on the petrous part of the temporal bone, draining into the inferior jugular vein
## Footnote
Sampling from this site allows for ACTH quantitation.
132
What is the International normalized ratio (INR)?
A standardized test to assess prothrombin time, used in managing Coumadin therapy
## Footnote
Normal INR is 1.0; values > 1.0 indicate clotting mechanism disruption.
133
What are the interosseous muscles of the hand?
Muscles located adjacent to the metacarpal bones that help control the fingers
## Footnote
They are involved in fine motor movements.
134
What is iritis?
Inflammation of the iris
## Footnote
It can lead to pain, light sensitivity, and vision problems.
135
What is kernicterus?
Irreversible CNS damage in newborns due to high levels of unconjugated bilirubin
## Footnote
Symptoms include cerebral palsy-like movements and intellectual disabilities.
136
What are ketone bodies?
Acetoacetic acid and beta-hydroxybutyric acid
## Footnote
These are produced during fatty acid metabolism.
137
What is Korsakoff syndrome?
Persistent and irreversible dementia associated with thiamine deficiency
## Footnote
It often occurs alongside Wernicke's encephalopathy.
138
What are Kussmaul respirations?
Deep labored respirations as a response to severe acidosis
## Footnote
This is the body's attempt to expel CO2 and rebalance pH.
139
What is kwashiorkor?
Protein-energy malnutrition characterized by edema
## Footnote
It often occurs in children weaned from breastfeeding due to subsequent pregnancies.
140
What is lateral rectus palsy?
Damage to cranial nerve six, affecting lateral eye movement
## Footnote
It is often caused by trauma or increased intracranial pressure.
141
What is lecithin cholesterol acyltransferase (LCAT)?
An enzyme that converts cholesterol to cholesteryl esters in HDL
## Footnote
It plays a crucial role in lipid metabolism.
142
What is lipid peroxidation?
Damage to cellular lipid membranes when reactive oxygen species attack polyunsaturated fatty acids
## Footnote
It can lead to altered membrane properties and functions.
143
What is lipoprotein lipase (LPL)?
An enzyme that hydrolyzes triacylglycerol to free fatty acids for muscle uptake and adipose storage
## Footnote
It is essential for lipid metabolism.
144
What is a lysosome?
An organelle containing enzymes responsible for degrading cellular waste products
## Footnote
It operates in an acidic environment.
145
What are malabsorption and maldigestion?
The gut's inability to assimilate adequate calories, nutrients, and vitamins
## Footnote
This can lead to nutrient deficiencies and health issues.
146
What are Mallory bodies?
Cytoplasmic hyaline inclusion bodies in hepatocytes indicating liver damage
## Footnote
They are often associated with alcoholic liver disease.
147
What is marasmus?
Protein-energy malnutrition characterized by wasting
## Footnote
It typically occurs in children with inadequate caloric intake.
148
What is marfanoid appearance?
Phenotypic findings of Marfan syndrome, including tall stature and long limbs
## Footnote
It shares features with homocystinuria but has distinct differences.
149
What does MCADD stand for?
Medium-chain acyl CoA dehydrogenase deficiency
## Footnote
It is the most common fatty acid oxidation disorder.
150
What does MCH measure?
The amount of hemoglobin per red blood cell
## Footnote
It is an important parameter in blood tests.
151
What does MCHC indicate?
The average concentration of hemoglobin in a red blood cell
## Footnote
It helps assess the quality of red blood cells.
152
What does MCV represent?
The average size of red blood cells
## Footnote
It is used to classify anemias.
153
What is methylenetetrahydrofolate reductase (MTHFR)?
An enzyme necessary for converting 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate
## Footnote
A common SNP in MTHFR can lead to high serum homocysteine levels.
154
What is monoarticular arthropathy?
Acute inflammatory change in a single joint
## Footnote
It is often associated with conditions like gout or septic arthritis.
155
What is monocular diplopia?
Double vision in one eye
## Footnote
It can be caused by various ocular or neurological conditions.
156
What is a monosaccharide?
A sugar unit that cannot be further broken down
## Footnote
Common examples include glucose, fructose, and galactose.
157
What is myxedema?
Severe hypothyroidism with symptoms like weight gain and cold intolerance
## Footnote
It can lead to significant metabolic disturbances.
158
What does NAFLD stand for?
Nonalcoholic fatty liver disease
## Footnote
It is characterized by fat accumulation in the liver without alcohol consumption.
159
What is neonatal sepsis?
Sepsis occurring in newborns, typically within the first 24 hours of life
## Footnote
It is more frequent in premature births and can be life-threatening.
160
What percentage of newborn sepsis cases typically occur within the first 24 hours?
80%-90%
161
What is late-onset sepsis defined as?
Occurs from 4 to 90 days beyond birth
162
What are the most common organisms associated with early sepsis in newborns?
* Group B Streptococcus (GBS) * Staphylococcus epidermidis
163
What physical findings can resemble acute respiratory distress syndrome in neonates?
* Coughing * Costal and sternal retractions * Tachypnea * Nasal flaring * Cyanosis
164
What laboratory markers can help distinguish neonatal sepsis from inborn errors of metabolism (IEMs)?
* Cultures of various fluids * Imaging of the CNS and lungs * Steadily rising CRP
165
Define 'neural crest cells'.
Multipotent cells that give rise to derivatives of the nervous system and epidermis
166
What does neuroapoptosis refer to?
Programmed cell death of brain cells
167
What is a neuroendocrine tumor (NET)?
A rare neoplasm involving cells responsive to neuronal control and hormone production
168
What is the purpose of newborn blood spot screening?
Testing for numerous inborn errors of metabolism
169
What is nonalcoholic steatohepatitis (NASH)?
Accumulation of fat within the hepatocyte along with an inflammatory process
170
What is the definition of obstructive sleep apnea?
An upper airway disorder where airflow is repeatedly blocked during sleep
171
What is the term for hidden conditions detectable by chemical tests?
Occult
172
What does 'oligoarticular' refer to?
Involving multiple but fewer than five joints
173
What is oncotic pressure determined by?
* Concentration of ions (sodium and potassium) * Albumin and other proteins
174
What is opisthotonos?
Backward arching of the head, neck, and spine
175
Define organic acidemia/uria.
Abnormal concentrations of organic acids in the serum that spill into the urine
176
What is the role of orotic acid?
An intermediate in pyrimidine biosynthesis, increased in certain disorders
177
What does the osmolality gap indicate?
Unmeasured solute in the blood
178
What is the partial thromboplastin time (PTT)?
A laboratory measurement of clotting time assessing the intrinsic pathway
179
What does pathognomonic mean?
Distinctly characteristic or diagnostic of a particular disease
180
What is pectus excavatum?
A concave (depressed) breastbone
181
What is the function of peptidyl-prolyl-4-hydroxylase?
Essential for collagen synthesis and appropriate folding of procollagen chains
182
Define peroxisome.
An organelle containing enzymes for various oxidation reactions
183
What are petechiae?
Small bleeding lesions (1-2 mm) under the skin
184
What are PEX genes?
16 genes that direct the normal assembly of the peroxisome
185
What is a philtrum?
The groove between the nose and the upper lip
186
What are plasmalogens?
Unique membrane glycerophospholipids found in brain, myelin sheath, and heart
187
What does plumbism refer to?
Lead poisoning
188
What does PMI stand for in a medical context?
Point of maximal impulse
189
What does polyarticular mean?
Involving greater than five joints
190
What is porphyria?
A disorder of heme synthesis due to a defect in enzyme-mediated reactions
191
Define portal hypertension.
Increased vascular pressure in the portal vein due to cirrhosis
192
What is primary hemostasis?
Platelet plug formation at the site of vascular injury
193
What is the function of propionyl CoA carboxylase?
Converts propionyl CoA to methylmalonyl CoA
194
What does protein-energy malnutrition refer to?
Metabolic imbalance due to nutritional deficiency
195
What is prothrombin time (PT)?
Laboratory assessment of the extrinsic pathway’s coagulation
196
What is PRPP?
5-Phosphoribosyl-1-pyrophosphate, a key intermediate in nucleotide biosynthesis
197
What does pruritus mean?
Diffuse itching
198
Define pseudo-Cushing disorder.
Cushing-like symptoms seen in depression and alcoholism
199
What is the purine salvage pathway?
A pathway where cells salvage and recycle purine bases
200
What is purpura?
Hemorrhagic lesions larger than petechia (2-10 mm)
201
What is the role of pyruvate kinase?
Catalyzes the final step in glycolysis generating 2 ATP per glucose
202
What does RDW measure?
Variation in size and volume of red blood cells
203
What are reactive oxygen species (ROS)?
Unstable oxygen molecules that can damage cellular components
204
What are red ragged fibers indicative of?
Mitochondrial disorders
205
What are reducing sugars?
Sugars containing aldehyde groups that can be oxidized
206
What does the reticulocyte index measure?
Amount of immature red blood cells in circulation
207
What does ROM stand for?
Range of motion
208
What is the Romberg test used to assess?
Balance and proprioception
209
What is rotavirus known for?
Most common cause of acute gastroenteritis worldwide
210
What is the Roux-en-Y procedure?
A gastric bypass procedure for obesity
211
What is saturnine gout?
Gout occurring as a result of lead toxicity
212
What is secondary hemostasis?
Activation of intrinsic and extrinsic coagulation pathways to form fibrin mesh
213
What does SIDS stand for?
Sudden infant death syndrome
214
What is a sphincterotomy?
A procedure to widen or enlarge an opening in any sphincter
215
What is a sphygmomanometer?
Device for measuring blood pressure
216
What are spider angiomata?
Vascular malformations on the skin commonly seen in chronic liver disease
217
What is steatorrhea?
Diarrhea containing an excess of fatty material
218
Define steatosis.
Accumulation of excess fat in the hepatocyte
219
What are striae?
Longitudinal depressions in the skin, often erythematous
220
What is tachypnea?
Abnormally rapid breathing
221
What are telangiectasia?
Small dilated blood vessels noted on skin or mucous membranes
222
What is thiamine pyrophosphate?
Metabolically active form of thiamine, a cofactor for key enzymes
223
What is a thrombus?
Blood clot that attaches to a blood vessel
224
What is tissue transglutaminase (tTG)?
Enzyme that deaminates glutamine to form glutamic acid, marker for celiac disease
225
What is transferrin isoelectric focusing used for?
Screening tool for congenital disorders of glycosylation
226
What is a troponin test?
Diagnostic marker to assess heart damage
227
What is ubiquitination?
Addition of ubiquitin to a protein to alter its activity or label it for degradation
228
What is the urea cycle responsible for?
Removing ammonium ions and producing arginine, ornithine, and citrulline
229
What is urea?
Nitrogenous molecule synthesized in the liver from ammonia
230
What is urethritis?
Swelling and inflammation of the urethra
231
What does uridine diphosphate glucuronosyl transferase (UDPGT A1) do?
Conjugates bilirubin with glucuronic acid for excretion
232
What does urine organic acids screening detect?
Many inborn errors of metabolism
233
What is von Willebrand factor (vWF)?
A glycoprotein that mediates adherence to subendothelial tissue
234
What are the three acids that can be detected in certain metabolic disorders?
ionic, isovaleric, and methylmalonic acid
## Footnote
These acids are associated with fatty acid oxidation defects and other metabolic disorders.
235
What are the two important functions of von Willebrand factor (vWF)?
* Mediate adherence to subendothelial tissue
* Act as a carrier protein for factor VIII in circulation
## Footnote
vWF is produced in endothelial cells, subendothelial connective tissue, platelets, and megakaryocytes.
236
What is the Walker-Murdoch sign characteristic of?
Marfan syndrome
## Footnote
It is identified by the overlap of the thumb and forefinger when wrapped around the opposing wrist.
237
What are Weibel-Palade bodies?
Secretory specialized organelles of endothelial cells
## Footnote
They contain von Willebrand factor and other proteins contributing to inflammation, angiogenesis, and tissue repair.
238
What is Wernicke encephalopathy caused by?
Thiamine deficiency
## Footnote
It presents as acute or subacute confusion or delirium.
239
What are xanthomas?
Cholesterol-rich deposits in the skin
## Footnote
They are cutaneous manifestations of hyperlipidemia and derive their name from Greek meaning 'yellow'.
240
What is a zymogen?
Inactive precursor of a digestive enzyme
## Footnote
Its purpose is to restrict digestive actions until released into the gut lumen.
241
True or False: Lactic acid and ketones can be detected in metabolic disorders.
True
## Footnote
Detection of these metabolites can aid in diagnosing various metabolic conditions.
