Clinical Conditions Flashcards

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1
Q

What is scurvy?

A
  • Scurvy is a condition which arises due to insufficient Vitamin C (ascorbic acid) intake
  • It presents with weakness, fatigue, and sore arms and legs
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2
Q

What are malabsorption conditions?

A
  • Malapsorption conditions are caused by the failure to digest and/or absorb ingest nutrients e.g. Coeliac disease and Crohn’s disease
  • Under-nutrition may result from eating disorders like anorexia and bulimia nervosa or from reduced availability of food such as in developing countries
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3
Q

What is mitochondrial disease?

A

Mitochondrial disease is an inherited chronic illness involving a group of disorders caused by dysfunctional mitochondria

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4
Q

What is Secondary Lactase Deficiency?

A
  • Secondary lactase deficiency is a condition occurring due to injury to small intestine
  • It occurs in both infants and adults and is generally reversible
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5
Q

What is galactosaemia?

A

Galactosaemia is a clinical condition wherein one cannot use galactose obtained from the diet because of a lack of the kinase or transferase enzyme

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6
Q

What is classic haemophilia?

A
  • Classic haemophilia, is a genetic disorder caused by missing or defective factor VIII which prevents the stimulated activity of factor IXa, a serine protease
  • Treatment with recombinant factor VIII
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7
Q

What is Down’s Syndrome?

A
  • Down’s Syndrome is a genetic condition arising due to trisomy 21 (third copy of chromosome 21)
  • It manifests with characteristic facial features, intellectual disability, heart defects and increased prevalence of leukaemia
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8
Q

What is Sickle Cell Anaemia?

A

Sickle cell anaemia is a haemoglobinopathy which arises due to a single base mutation in the β-chain of haemoglobin (Glu ⇒ Val) causing the blood cells to become rigid and sickle (HbS protein)

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9
Q

What is Congenital lactase deficiency?

A
  • Congenital lactase deficiency is an extremely rare condition caused by an autosomal recessive defect in lactase gene
  • The infant cannot digest breast milk
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10
Q

What is obesity?

A
  • Obesity is a chronic condition characterised by excess body fat and is most often defined on the basis of Body Mass Index (BMI)
  • The body weight in most adults represents the balance between energy intake and energy expenditure but other factors also contribute to weight gain e.g. genes, drug therapy, endocrine disorders
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11
Q

What are developmental disorders?

A

Developmental disorders are a group of psychiatric conditions originating in childhood that involve serious mental and physical impairment in different areas

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12
Q

What is marasmus?

A
  • Marasmus is a type of protein-energy malnutrition most commonly seen in children < 5
  • Patient is emaciated, muscle wasting, loss of body fat, thin & dry hair, diarrhoea (no oedema)
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13
Q

What is Huntington’s Disease?

A
  • Huntington’s disease is an inherited neurodegenerative disease, affecting mostly basal ganglia and leading to the degeneration of voluntary motor functions, procedural learning, routines, cognition and emotions
  • Symptoms: seizures, abnormal gait, personality change, dementia
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14
Q

What is kwashiorkor?

A
  • Kwashiorkor occurs typically in a young child displaced from breastfeeding and fed with a high carbohydrate, very low protein diet
  • Patient is apathetic, lethargic, anorexic, anaemic, has generalised oedema and low serum albumin
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15
Q

What is Werner Syndrome?

A

Werner syndrome is a clinical condition involving mutations in the WRN gene leading to DNA replication defects, DNA damage and ultimately, cell growth defects

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16
Q

What is Turner’s Syndrome?

A
  • Turner syndrome is a genetic condition occurring when one normal X chromosome is present in a female’s cells and the other sex chromosome is missing / structurally altered (X inactivation)
  • It presents with puffy feet, short stature, heart defects, mild learning difficulties, neck webbing, infertility
17
Q

What is Patau syndrome?

A
  • Patau syndrome is a genetic condition arising due to trisomy 13 (third copy of chromosome 13)
  • Majority die in neonatal period and it manifests with holoprosencephaly, polydactyly and multiple other congenital abnormalities
18
Q

What is Edwards syndrome?

A
  • Edwards syndrome is a genetic condition arising due to trisomy 18 (third copy of chromosome 18) in maternal meiosis II
  • Babies survive for 5-15 days and it manifests with a small lower jaw, prominent occiput, low-set ears, rocker bottom feet and overlapping fingers
19
Q

What is Primary Lactase Deficiency

A
  • Primary lactase deficiency is a condition occurring due to the absence of lactase persistence allele
  • It only occurs in adults and has its highest prevalence in Northwest Europe