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Human Anatomy > Diseases and Disorders > Flashcards

Diseases and Disorders Flashcards

1
Q

Zellweger syndrome

A

autosomal recessive disorder of peroxisomal biogenesis due to a mutated PEX gene

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2
Q

Refsum disease

A

autosomal recessive disorder of alpha-oxidation buildup of phytanic acid due to inability to degrade it

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3
Q

Adrenoleukodystrophy

A

X-linked recessive disorder of beta oxidation due to mutation of ABCD1 gene; VLCFA buildup in adrenal glands, white matter of brain, testes

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4
Q

Paralysis

A

when nerve signals to muscles are disrupted, and individuals are unable to perform any voluntary movements

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5
Q

Arthritis

A

damage to joints that causes pain, stiffness and inflammation

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6
Q

Rhinitis

A

excessive secretion from goblet cells and the narrowing of nasal cavities

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7
Q

Sinusitis

A

inflammation of the tissue lining the sinuses which can cause swelling which can lead to blockage of draining of orifices

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8
Q

Obstructive sleep apnoea

A

bstruction of the airway due to over-relaxed muscle tone of the pharyngeal muscle caused by enlarged tongue, tonsils or obesity (can be treated by CPAP or surgery)

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9
Q

Pneumothorax

A

collapsed lung due to the presence of air in the pleural cavity

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10
Q

Hydrothorax

A

pleural effusion (fluid accumulation) in the pleural cavity

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11
Q

Haemothorax

A

presence of blood in the pleural cavity

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12
Q

Asthma

A

medical condition that affects the ability to breathe and causes parasympathetic hyperactivity (bronchoconstriction)

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13
Q

Pneumonia

A

infection of the lung that causes fluid/pus buildup in the alveoli which prevents effective gaseous exchange (can be treated by antivirals, antibiotics or oxygen therapy)

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14
Q

COPD

A

disease caused by constant irritation of the respiratory tract

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15
Q

Pericardial effusion

A

abnormal large amount of fluid accumulation in the pericardial sac caused by the fibrous layer of the pericardium not distending which reduces blood filling in ventricles and CO (can be treated by pericardiocentesis)

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16
Q

Gastro-oesophageal disease

A

condition in which stomach acid repeatedly flows back up into the oesophagus and can lead to oesophageal ulcers, Barret’s oesophagus and strictures

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17
Q

Barret’s oesophagus

A

abnormal change in mucosal cells from stratified squamous epithelium to simple columnar epithelium with interspersed goblet cells

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18
Q

Ascites

A

accumulation of fluid in the peritoneal cavity that can cause liver and heart problems

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19
Q

Volvolus

A

twisting of the intestine and mesentery around itself to cause a bowel obstruction

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20
Q

Gastritis

A

inflammation of the lining of the stomach

21
Q

Gallstones

A

stones formed in the gallbladder caused by bile being too concentrated

22
Q

Cholecystitis

A

inflammation of the gallbladder due to bile being trapped

23
Q

Peptic ulcer

A

functional GIT disorder caused by infection, stress or overproduction of gastric acid

24
Q

Appendicitis

A

inflammation of the appendix

25
Q

Haemorrhoids

A

swollen blood vessels that line the anal opening caused by chronic excess pressure from straining during bowel movement, persistent diarrhoea and pregnancy

26
Q

Anaemia

A

condition manifested when the amount of haemoglobin is insufficient within RBCs, or the number of RBCs is reduced

27
Q

Sickle cell anaemia

A

type of anaemia due to a genetic disorder; autosomal recessive single point mutation in the beta-globin gene which changes the shape and function of RBCs

28
Q

Thrombocytopenia

A

low platelet levels in the blood

29
Q

Thrombus

A

blood clot that forms inside an artery or vein (can be treated by blood thinning agents)

30
Q

Embolus

A

thrombus that breaks loose and travels from one location in the body to another

31
Q

Lobulated kidney

A

rare variation of development in which renal lobules have a visible anatomical space between them

32
Q

Congenital polycystic kidney

A

genetic disorder that causes many fluid-filled cysts to grow in the kidneys

33
Q

Horsehoe kidney

A

condition in which the kidneys are fused together at the base

34
Q

Renal colic

A

specific type of pain caused by urinary stones or other UT disorders

35
Q

Ureteric calculus

A

presence or formation of stones within the ureters

36
Q

Bladder calculus

A

bladder stones

37
Q

Pitting oedema

A

condition where excess fluid accumulates in the body’s tissues and causes swelling that leaves an indentation when pressed

38
Q

Lymphoedema

A

condition characterised by the accumulation of lymphatic fluid in tissues leading to a chronic swelling caused by a block in the lymphatic system

39
Q

DiGeorge syndrome

A

the absence or underdevelopment of the thymus resulting in very low T cell counts which leads to an increased susceptibility to viral, fungal and bacterial infections

40
Q

Goitre

A

endocrine disorder caused by an iodine deficient diet which hinders the synthesis of TH leading to hypothyroidism

41
Q

Cretinism

A

endocrine disorder caused by congenital hypothyroidism characterised by arrested physical and mental development

42
Q

Grave’s disease

A

autoimmune disease caused by hyperthyroidism

43
Q

Hyperparathyroidism

A

endocrine disorder caused by too much PTH and leads to increased serum calcium levels and deposits of calcium in the kidneys and arteries

44
Q

Hypoparathyroidism

A

endocrine disorder caused by too little PTH and leads to decreased serum calcium levels and spastic contractions of skeletal muscles

45
Q

Conn syndrome

A

adrenal cortex disorder caused by excessive aldosterone production resulting in low renin levels

46
Q

Crushing syndrome

A

adrenal cortex disorder caused by excessive glucocorticoid production

47
Q

Addison disease

A

adrenal cortex disorder caused by autoimmune destruction of the adrenal cortex

48
Q

Pheochromocytoma

A

rare tumour of the adrenal medulla composed of chromaffin cells

49
Q

Diabetes mellitus type 1

A

associated with a deficiency of insulin secretion due to a loss of beta cell mass in pancreatic islets

Human Anatomy (12 decks)

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