PP C3 2021 + 'our' retake (2021/22)

A detailed infographic depicting metabolic syndrome, familial hypercholesterolemia, and genetic disorders labeled with their symptoms and treatments, colorful and educational style

Metabolic and Genetic Disorders Quiz

Test your knowledge on metabolic syndrome, familial hypercholesterolemia, and various genetic disorders with our comprehensive quiz. This quiz is designed for medical students, healthcare professionals, and anyone interested in improving their understanding of these important health topics.

30 well-crafted questions
Focus on metabolic conditions and their genetic underpinnings
Learn while you test your knowledge!

40 Questions10 MinutesCreated by AnalyzingData237

Metabolic syndrome can be diagnosed when the following criteria are met:

Waist diameter; 98 cm, fasting glucose level = 98 mg/dL, TG: 180 mg/dL, HDL: 50 mg/dL, BP: 140/85 mm/hg

Waist diameter: 95 cm, fasting glucose level: 112 mg/dL, TG:120 mg/dL, HDL: 60 mg/dL, BP: 120/80 mm hg

Waist diameter: 100 cm, fasting glucose level: 120/mg/dL, TG: 165 mg/dL, HDL, 55 mg/dL, BP: 125/80 mm hg

Waist diameter: 79 cm , fasting glucose level: 98 mg/dL, tg: 120 mg/dL, HDL: 50 mg/dL, BP: 140/85 mm hg

Point true statements about familial hypercholesterolemia:

In monogenic FH most common mutation affect apoE and LPL genes

One of the symptoms are tendon xanthomas

Monogenic FH is more common then polygenic

Patitens are characterized by high levels of LDL (> 200 mg/dL)

Tangier disease is characterized by:

Reduced levels of HDL

Increased levels of total cholesterol

Autosomal recessive type of inheritance

Presence of cholesterol depositions, especially visibie in the tonsils

Point correct statement about obesity

Waist hip ratio > 1 indicate androidal obesity type

Hypertrophic obesity is characterised by adipocytes volume increase

In gynoidal obesity the excess fat tissue accumulates mostly around hips and thights

It is indicated by BMI > 25

Primary Hypertension:

Is responsible for 90-95% of hypertension cases

Has genetic background

May result from increased activity of RAA system

Is a result of an underlying condition, mostly affecting kidneys or endocrine system

Rental artery constriction

Leads to decrease of blood pressure levels

Results mostly from athersclerotic changes in afferent renal arterioles

Decreases renin release

Causes increased sodium retention

Secondary hypertension

In hypothyroidism may result from increased vascular stiffness

Is inherited in an autosomal dominant pattern

Is characterized by very high BP levels

Depends mostly on environmental factors

Strongly decreased AVR can result in presence or development of:

Hypertension

Metabolic syndrome

Systemic inflammation

Cataract

Prediabetes should be diagnosed

IFG with normal glucose tolerance is present

Casual blood glucose > or same 200 mg/dL (11.1 mmol/L ) with typical symptoms

Fasting glucose 100-125 mg/dL (7,0 mmol/L) and or result of OGTT: 140 -199 mg /dL (7.8 – 11 mmol/L)

In 120 minutes of OGTT blood glucose > 200 mg/dL (11,1 mmol/L)

Characteristic features of type 2 diabetes include:

Presence of antibodies against glutamic acid decarboxylase

Lack of circulating antibodies to islet cells

High risk of acute complication in form of ketoacidosis

Impaired beta cell function

Chronic diabetes complication

Occur as a consequence of non-enzymatic glycosylation

Involve micro and macroangiopathy

Pathogenesis involve RAGE activation

Can manifest as nonketotic hyperosmolar coma

Choose correct sentence about celiac disease

Gluten is deamidated before entering lamina propria

Histopathology examination usually reveals crypt hyperplasia and lymphocyte infiltration

Only t cells and APC are involved in the pathogenesis of celiac disease

Symptoms include diarrhea with fat grains

Phenylketonuria

Symptoms do not include mental retardation

Majority of patients present with a mutation in PKU gene

Very sweet smell of urine

Hyperphenyloalaninemia occur

Choose false sentence

Mutations in the same gene result in tyrosinemia type 1 and 2

Eyes are never affected in albinism

In tyrosinemia type 2 liver function is severely impaired

Defects in tyrosinase activity cause albinism

Choose correct sentences

Characteristic features of homocystinuria is homogentisic acids deposits

Ochronosis is present in alkaptonuria

Skeletal abnormalities are often seen in homocysteinuria, but they never affect the chest

Maple syrup disease is a disorder of branched chain amino acid

Toxic effects of high glucose level on endothelial cells typically include:

Polyol pathway activation

Nonenzymatic glycosylation

Decrease in NO production

Blood-circulating protein enzymatic decarboxylation of amino acids

Choose false sentences: Select one or more:

In phenylketonuria, ochronosis is a prominent symptom

Symptoms of albinism do not include whitish hair and light sensitivity

Phenylketonuria is inherited in autosomal recessive manner

Defects in methionine metabolism cause alkaptonuria

Diabetic foot: Select one or more:

Develops as a result of arterial disease and other forms of diabetic macroangiopathy

Develops as a result of peripheral neuropathy within foot

Results from hyperglycemia that produces oxidative stress on nerve cells-

Is a lesion of all layers of skin in the foot, including necrosis or gangrene

Bronchial spasm due to large portion of very cold air inhalation: Select one or more:

Characterizes exclusively people with hyper-reactivity to cold air (non-atopic asthma)

Causes immediate feeling of congestion and pain in the chest

Is characterised by the slowly increasing dyspnea

Protects lower airways from extreme cooling

Diabetes mellitus has to be diagnosed by medical doctor when is detected: Select one or more:

Fasting glycemia ≥ 100mg%

OGTT result ≥ 200mg%

Casual glycemia ≥ 180mg%

OGTT result ≥ 140mg%

Choose correct sentences about phenylketonuria: Select one or more:

There is no correct answer provided

Treatment options include high phenylalanine diet

Mutations causative of the disease are usually located in PKU gene

Severe lack of phenylalanine in patients with phenylketonuria causes mental retardation

Four students had their lipid profile tested. Which student(s) show abnormal results? Select one or more.

TG = 250 mg/dL, Ch total = 240 mg/dL, HDL = 35 mg/dL, LDL = 140 mg/dL

TG = 130 mg/dL, Ch total = 185 mg/dL, HDL = 67 mg/dL, LDL = 82 mg/dL

TG = 220 mg/dL, Ch total = 250 mg/dL, HDL = 30 mg/dL, LDL = 195 mg/dL

TG = 311 mg/dL, Ch total = 220 mg/dL, HDL = 40 mg/dL, LDL = 160 mg/dL

Choose correct pairing of disease name and the cause of this disease: Select one or more:

There is no correct answer provided

Alkaptonuria: defects of methionine metabolism

Albinism: melanin deficiency

Tyrosinemia: defect in tyrosinase

Choose correct sentences about familial hypercholesterolemia: Select one or more:

Patients have higher risk of developing IHD

It is inherited in autosomal dominant pattern

Mutations causing the disease usually affect LDL-R or ApoB

Patients often present with tendon xanthomas

In physiology the mucus of the lower airways: Select one or more:

Is evacuated from the bronchi mainly due to cough re□ex

Is colonized by bacteria

Forms the barrier against attacking microorganisms

Covers all of the surfaces

You will diagnose diabetic ketoacidosis in patient presenting:

Polyuria and polydipsia

Kussmaul respiration

Headaches and vomiting

Deficiency of the homogentisic acid oxidase enzyme

Indicate correctly specific complications resulting from diabetic microangiopathy: Select one or more:

Oncopathy

Nephropathy

Ophthalmopathy

Visceropathy

Who belongs to the group of increased risk of DM development and need to be tested with OGTT?

People with hypertension

People with cardiovascular diseases

People with TG > 250 mg/dL in their blood

Women with chronic migraines

Biological actions of Insulin – indicate correct biological action Select one or more:

In adipose tissue increases lipolysis

In the liver decreases gluconeogenesis

In the liver increases lipogenesis

In muscles decreases glucose uptake

What are the nutritional causes of the secondary hyperlipoproteinemia?

Alcohol consumption

Excessive intake of carbohydrates

Excessive intake of salt and pepper

High-fat diet

Late complications of Diabetes Mellitus typically may disturb the function of

Eyes

Small blood vessels

Kidneys

Large blood vessels

What are genetic risks to induce the type 2 Diabetes Mellitus? – indicate correct answer.

Multiple genes involved in destruction of PP cells in pancreas

Multiple genes involved in insulin resistance

Not primary obesity genes

not HLA genes

Acute Life-threatening complications of Diabetes Mellitus are Select one or more:

Hyperosmolar coma

Ketoacidosis

Weight loss

Thrombocytopenia

What are the complications of obesity? Select one or more:

Atherosclerosis

Ischemic heart disease

Hyperventilation

Urine bladder stones

What does insulin resistance stimulate? Select one or more:

It stimulates the release of insulin, which can cause hyperinsulinemia

It stimulates the release of glucagon, which can cause hyperglycaemia

it stimulates the uptake of glucose, which can cause hypoglycaemia

It stimulates the release of glucose, which can cause hyperglycaemia

What are the symptoms of Phenylketonuria? Select one or more:

bradykinin deficiency in the skin, iris, hair

Spot lesions in the skin, dry skin

Psychomotor retardation

Mouse-like urine odour

Indicate these states that are NOT metabolic syndrome components: Select one or more:

Hemoglobinopathy

Hyperuricemia

Osteoarthritis

Nephrolithiasis

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PP C3 2021 + "our" retake (2021/22)

Metabolic and Genetic Disorders Quiz

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