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  • Question 1 - A couple in their early 30s come to your clinic seeking advice. The...

    Incorrect

    • A couple in their early 30s come to your clinic seeking advice. The husband has a history of haemophilia B and they are worried about the possibility of passing it on to their children. Can you determine which of their offspring will be affected by the disease?

      Your Answer: Half of the daughters and half of the sons will be affected

      Correct Answer: All daughters will be carriers; no sons will be affected

      Explanation:

      The inheritance of Haemophilia A and B is crucial in identifying individuals who are at risk of developing the condition. Haemophilia A and B are genetic disorders that are inherited in an X-linked recessive manner. Haemophilia A is caused by a deficiency in clotting factor VIII, while haemophilia B is caused by a deficiency in clotting factor IX.

      On the other hand, haemophilia C, which is caused by a deficiency in clotting factor XI, is primarily inherited in an autosomal recessive manner. In X-linked recessive conditions like haemophilia B, males are more likely to be affected than females. This is because males only need one abnormal copy of the gene, which is carried on the X chromosome, to be affected.

      Females, on the other hand, can be carriers of the condition if they carry one normal and one abnormal copy of the gene. While carriers can have clotting abnormalities, these are usually milder than those seen in affected individuals. Men cannot pass the condition to their sons, but they will pass on the abnormal X chromosome to all their daughters, who will be carriers.

      Female carriers can pass on the condition to around half their sons, and half their daughters will be carriers. Females can only be affected if they are the offspring of an affected male and a carrier female. In summary, the inheritance of haemophilia A and B is crucial in identifying individuals who are at risk of developing the condition. It also helps in providing appropriate genetic counseling and management for affected individuals and their families.

    • This question is part of the following fields:

      • Basic Sciences
      6.9
      Seconds
  • Question 2 - Which food is a rich source of vitamin D in the diet? ...

    Incorrect

    • Which food is a rich source of vitamin D in the diet?

      Your Answer: Onions

      Correct Answer: Oily fish

      Explanation:

      Sources of Vitamin D

      Vitamin D is a type of fat-soluble vitamin that can be found in certain foods such as cheese, butter, eggs, and oily fish. However, vegetable sources of vitamin D are limited, although some foods are fortified with this vitamin. For instance, 100 grams of sundried shiitake mushrooms contain 1600 IU of vitamin D, while one egg contains 20 IU. Wild salmon is also a good source of vitamin D, with 100 grams containing 800 IU, while farmed salmon contains 200 IU.

      Aside from food sources, sunlight is also a good source of vitamin D. Exposure of arms and legs to sunlight for 10-15 minutes can provide 3000 IU of vitamin D. However, it is difficult to obtain the daily requirement of 25-50 IU of vitamin D through sunlight alone, especially for people living in temperate climates. As a result, many people may have insufficient vitamin D levels. It is important to ensure that we get enough vitamin D through a combination of food sources and sunlight exposure.

    • This question is part of the following fields:

      • Basic Sciences
      3.5
      Seconds
  • Question 3 - You are evaluating a geriatric patient in the emergency department who has fallen...

    Incorrect

    • You are evaluating a geriatric patient in the emergency department who has fallen and needs a venous cannula for fluid resuscitation. To ensure maximum flow into the vein, you plan to apply the Hagen-Poiseuille equation to select an appropriate cannula size. Which of the following statements is true according to this law?

      Your Answer:

      Correct Answer: Flow will be faster through a shorter cannula

      Explanation:

      Poiseuille’s Equation and Fluid Flow in Cylinders

      Poiseuille’s equation is used to describe the flow of non-pulsatile laminar fluids through a cylinder. The equation states that the flow rate is directly proportional to the pressure driving the fluid and the fourth power of the radius. Additionally, it is inversely proportional to the viscosity of the fluid and the length of the tube. This means that a short, wide cannula with pressure on the bag will deliver fluids more rapidly than a long, narrow one.

      It is important to note that even small changes in the radius of a tube can greatly affect the flow rate. This is because the fourth power of the radius is used in the equation. Therefore, any changes in the radius will have a significant impact on the flow rate. Poiseuille’s equation is crucial in determining the optimal conditions for fluid delivery in medical settings.

    • This question is part of the following fields:

      • Basic Sciences
      0
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  • Question 4 - A 32-year-old snowboarder presents to the Emergency department complaining of pain and swelling...

    Incorrect

    • A 32-year-old snowboarder presents to the Emergency department complaining of pain and swelling around the first metacarpophalangeal joint (MCP joint) following a fall during practice.
      Upon examination, there is significant swelling and bruising on the ulnar side of the joint.

      What is the most probable injury that the patient has sustained?

      Your Answer:

      Correct Answer: Ulnar collateral ligament

      Explanation:

      Skier’s Thumb: A Common Injury in Winter Sports

      Skier’s thumb, also known as gamekeeper’s thumb, is a common injury that occurs in winter sports. It is caused by damage or rupture of the ulnar collateral ligament, which is located at the base of the thumb. This injury can result in acute swelling and gross instability of the thumb. In severe cases where a complete tear of the ligament is suspected, an MRI may be necessary to confirm the diagnosis, and surgical repair may be required.

      Once the acute swelling has subsided, treatment for skier’s thumb typically involves immobilization in a thumb spica. This is the standard therapy for cases of partial rupture.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 5 - At what stage of meiosis does the process of homologous recombination occur? ...

    Incorrect

    • At what stage of meiosis does the process of homologous recombination occur?

      Your Answer:

      Correct Answer: Prophase I

      Explanation:

      Homologous Recombination: A Mechanism for DNA Repair and Genetic Variation

      Homologous recombination is a process that allows for the exchange of nucleotide sequences between two similar or identical DNA molecules. This occurs during meiosis, specifically during the second phase of prophase I, where sister chromatids swap sequences. The primary purpose of homologous recombination is to accurately repair harmful double-strand DNA breaks. This process results in new combinations of DNA sequences that provide genetic variation in daughter cells and, ultimately, the organism’s offspring.

      In prokaryotic organisms such as bacteria and viruses, homologous recombination occurs during horizontal gene transfer. This process involves the exchange of genetic material between different strains and species. Homologous recombination plays a crucial role in the evolution of these organisms by allowing for the acquisition of new traits and adaptations.

      Overall, homologous recombination is a vital mechanism for DNA repair and genetic variation. It ensures the accuracy of DNA replication and contributes to the diversity of life on Earth.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 6 - In scientific experimentation, what is the term used to describe the movement of...

    Incorrect

    • In scientific experimentation, what is the term used to describe the movement of charged particles or solutes in a liquid medium due to an electric field?

      Your Answer:

      Correct Answer: Electrophoresis

      Explanation:

      Electrophoresis: Separating Molecules Based on Charge and Mass

      Electrophoresis is a technique that separates solutes, molecules, or nucleic acids based on their mass and charge. It involves the migration of charged particles in a liquid medium under the influence of an electric field. The apparatus consists of two electrodes placed at either end of a support medium, or gel, which is suspended in a buffer solution. The sample is inserted into a well and a current is applied. Over time, positively charged solutes move towards the negative electrode, while negatively charged substances move towards the positive electrode. Once the migration is complete, the gel is removed and stained to color the substance being tested for, such as protein.

      This technique is widely used in medical testing, but it requires a higher degree of operational and interpretive skill than many other tests, which is why it often takes longer to get a result. Electrophoresis has various uses and adaptations, such as standard electrophoresis for protein detection in the diagnosis of myeloma, identification of unusual lipid fractions in patients with inherited diseases, and detection of viral DNA through Southern Blotting. There is also Northern blotting, primarily a research technique at present, which uses electrophoresis to separate RNA. Additionally, Western blotting is used to test for the presence of antibodies to DNA through protein separation.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 7 - What is the composition of enzymes found in lysosomes? ...

    Incorrect

    • What is the composition of enzymes found in lysosomes?

      Your Answer:

      Correct Answer: Acid hydrolases

      Explanation:

      Lysosomes: The Digestive System of the Cell

      Lysosomes are organelles that come from the Golgi apparatus and are enclosed by a membrane. They are responsible for breaking down various biological macromolecules such as proteins, nucleic acids, carbohydrates, and lipids. Lysosomes contain acid hydrolases, which are enzymes that cleave chemical bonds by adding water and function at an acidic pH of around 5. They are involved in digesting foreign agents that are internalized by the cell and breaking down other cellular organelles like mitochondria, allowing for their components to be recycled.

      The acidic pH within lysosomes is maintained by a proton pump in the lysosomal membrane, which imports protons from the cytosol coupled to ATP hydrolysis. This acidic environment is necessary for the activity of the acid hydrolases. D-amino acid oxidases and peroxidases are not found in lysosomes but in peroxisomes. Alcohol dehydrogenases and ATPases are not involved in digestion but in other cellular functions. Alcohol dehydrogenases catalyze the interconversion between alcohols and aldehydes or ketones with the reduction of NAD+ to NADH, while ATPases catalyze the breakdown of ATP into ADP and a phosphate ion, releasing energy for the cell’s functions.

    • This question is part of the following fields:

      • Basic Sciences
      0
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  • Question 8 - The Krebs or TCA cycle is a series of metabolic processes beginning with...

    Incorrect

    • The Krebs or TCA cycle is a series of metabolic processes beginning with the synthesis of citrate from acetyl-CoA which results in a number of important metabolic products. Where in the cell does this cycle occur?

      Your Answer:

      Correct Answer: Mitochondria

      Explanation:

      Cellular Processes and Organelles

      Metabolic processes in the cell occur in specific locations. Acetyl-CoA production and the Krebs cycle take place in the mitochondrium, while glycolysis occurs in the cytoplasm. The nucleus is the central structure of the cell that contains DNA and is double membrane-bound. The rough endoplasmic reticulum is responsible for packaging and transporting proteins, while the smooth endoplasmic reticulum performs a similar function but lacks ribosomes.

      It is important to understand where these processes occur in the cell to better understand their functions and how they contribute to the overall functioning of the cell. The mitochondrium is responsible for producing energy in the form of ATP, while the cytoplasm is where glucose is broken down during glycolysis. The nucleus is where genetic information is stored and replicated, and the endoplasmic reticulum is involved in protein synthesis and transport.

      In summary, the cell is a complex system with various organelles that perform specific functions. where these processes occur in the cell is crucial to how they contribute to the overall functioning of the cell.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 9 - A 65-year-old patient with suspected spinal cord compression has been admitted to the...

    Incorrect

    • A 65-year-old patient with suspected spinal cord compression has been admitted to the neurosurgical team for an urgent MRI of the spine. The MRI technique primarily relies on the magnetic properties of which particle?

      Your Answer:

      Correct Answer: Hydrogen ion (proton)

      Explanation:

      How MRI Scanners Use Hydrogen Ions to Create Images

      MRI scanners use the magnetic properties of hydrogen ions, also known as protons, to create images of the human body. These protons have nuclear spin, which means they have magnetic vectors that can be aligned in an electromagnet. The scanner bombards the protons with radiofrequency radiation, causing them to release energy when they return to their resting state. This energy release is recorded and used to construct the MRI image.

      While other nuclei, such as carbon 13, also have net nuclear spin and could be used in MRI imaging, hydrogen ions are much more abundant in human tissues. This makes them the preferred choice for creating images of the body. By using the magnetic properties of hydrogen ions, MRI scanners can create detailed images of internal structures without the use of harmful radiation.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 10 - Which statement regarding microtubules is accurate in relation to Chédiak-Higashi syndrome? ...

    Incorrect

    • Which statement regarding microtubules is accurate in relation to Chédiak-Higashi syndrome?

      Your Answer:

      Correct Answer: They are arranged in a 9+2 formation in cilia

      Explanation:

      Microtubules and Chédiak-Higashi Syndrome

      Microtubules are made up of alpha and beta tubulin dimers that are arranged in a helix and can be added or removed to change the length. They are found in structures such as flagella, mitotic spindles, and cilia, where they have a 9+2 arrangement. These structures are important for cell movement and division. Chemotherapy agents, such as taxanes, target microtubules and are used in breast cancer treatment.

      Chédiak-Higashi syndrome is a rare inherited immunodeficiency disorder caused by mutations in the LYST gene. This condition is characterized by neutrophil inclusions, albinism, recurrent infections, and peripheral neuropathy. The neutrophil inclusions are thought to be caused by abnormal microtubule function, which affects the immune system’s ability to fight infections. While there is no cure for Chédiak-Higashi syndrome, treatment focuses on managing symptoms and preventing infections.

    • This question is part of the following fields:

      • Basic Sciences
      0
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  • Question 11 - While taking a patient's medical history, you discover that their family has a...

    Incorrect

    • While taking a patient's medical history, you discover that their family has a strong history of a certain disease. Autosomal dominant diseases are often caused by defects in structural genes and typically present in early adulthood, affecting both males and females equally. Which of the following diseases does not follow an autosomal dominant pattern of inheritance?

      Your Answer:

      Correct Answer: Haemochromatosis

      Explanation:

      Abnormal Binding Proteins and Iron Deposition: A Genetic Disorder

      Abnormal binding proteins can lead to the deposition of iron in the body, resulting in various health complications. This genetic disorder is inherited in an autosomal recessive manner. The deposition of iron can cause cardiomyopathy, cirrhosis, pancreatic failure due to fibrosis, and skin pigmentation.

      In general, disorders that affect metabolism or DNA replication on a cellular or genetic level tend to be autosomal recessive. On the other hand, genetic disorders that affect the structure of the body on a larger level are usually autosomal dominant. While there may be exceptions to these rules, they can serve as a helpful guide for exam preparation. Proper of this genetic disorder can aid in its diagnosis and management.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 12 - What are the clinical effects that can occur due to acute or chronic...

    Incorrect

    • What are the clinical effects that can occur due to acute or chronic over-administration of multivitamins leading to Vitamin A toxicity?

      Your Answer:

      Correct Answer: Nausea, vomiting and headaches

      Explanation:

      The Importance and Risks of Vitamin A

      Vitamin A is an essential nutrient that plays a crucial role in various bodily functions such as growth and development, vision, enzyme signalling pathways, and the maintenance of epithelial membranes. However, excessive intake of vitamin A can lead to toxicity, which can cause several adverse effects. These include raised intracranial pressure resulting in headaches, nausea, vomiting, and visual loss, increased bone resorption leading to osteoporosis and hypercalcaemia, liver damage, hair loss, and skin changes. Moreover, there is a possible increased risk of malignancy, particularly among smokers. Pregnant women are also advised to avoid foods rich in vitamin A, such as liver and fish oils, due to the teratogenicity of vitamin A-derived drugs. Therefore, it is crucial to maintain a balanced intake of vitamin A to avoid the risks associated with its toxicity.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 13 - What are the clinical consequences of a lack of vitamin A? ...

    Incorrect

    • What are the clinical consequences of a lack of vitamin A?

      Your Answer:

      Correct Answer: Dry conjunctiva

      Explanation:

      The Devastating Effects of Vitamin A Deficiency

      Vitamin A deficiency is a serious health concern that can lead to a range of devastating effects. One of the most common consequences is blindness, particularly in children. Poor night vision is often an early sign of this deficiency, which can progress to complete blindness if left untreated.

      In addition to blindness, vitamin A deficiency can also cause dry conjunctiva, a condition known as conjunctival xerosis. This occurs when the normally moist and fine conjunctiva becomes thickened and dysfunctional, leading to the formation of white plaques known as Bitot’s spots. Corneal ulceration can also occur as a result of this condition.

      The respiratory and gastrointestinal epithelia can also be affected by vitamin A deficiency, leading to reduced resistance to infection. This deficiency is a major public health issue in some parts of the world and is the single most common preventable cause of blindness. It is crucial to address this issue through education and access to vitamin A-rich foods and supplements.

      Overall, the devastating effects of vitamin A deficiency highlight the importance of proper nutrition and access to essential vitamins and minerals. By addressing this issue, we can help prevent blindness and improve overall health outcomes for individuals and communities around the world.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 14 - Which form of vitamin D is the most active in the human body?...

    Incorrect

    • Which form of vitamin D is the most active in the human body?

      Your Answer:

      Correct Answer: 1, 25 (OH) 2 vitamin D

      Explanation:

      The Process of Vitamin D Production and Activation

      Vitamin D comes in two forms, D2 and D3. D3 can be produced in the skin through a reaction that requires UV light, while D2 cannot. Both forms can also be obtained through diet, with some foods now being supplemented with Vitamin D. However, the production of Vitamin D3 in the skin can be affected by various factors such as seasons, latitude, clothing, sun block, and skin tone, making it difficult for individuals to get adequate levels of Vitamin D through sunlight alone, especially in the UK during winter.

      Once absorbed into the lymph, Vitamin D2 and D3 circulate in the bloodstream and reach the liver. Here, the liver enzyme 25-hydroxylase adds an OH group to the Vitamin D molecule, resulting in 25(OH) Vitamin D. The compound then travels to the kidney, where the enzyme 1-alpha hydroxylase adds another OH group, creating the active form of Vitamin D, 1,25 (OH)2Vitamin D. When there is enough of this active form, an inactive metabolite called 24,25 (OH)2Vitamin D is produced instead. this process is important in ensuring adequate Vitamin D levels for overall health and well-being.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 15 - A 50-year-old male comes to the clinic complaining of abdominal swelling, nausea, and...

    Incorrect

    • A 50-year-old male comes to the clinic complaining of abdominal swelling, nausea, and mild jaundice. He has a history of regular alcohol consumption, drinking two 330ml bottles of lager per day (3% ABV) and a 75cl bottle of 12% ABV wine per week.

      What is the approximate number of units of alcohol this man consumes per week? Round to the nearest unit.

      Your Answer:

      Correct Answer: 23 units

      Explanation:

      Calculating Units of Alcohol

      To calculate the number of units of alcohol in a drink, you need to multiply the percentage of alcohol (ABV) by the volume in millilitres and then divide by 1000. However, there are potential pitfalls to watch out for when answering questions about units of alcohol. For example, if the consumption is presented as a daily amount, you need to multiply by 7 to get the weekly amount. Additionally, if the volume is presented in centilitres, you need to convert it to millilitres before performing the calculation.

      For instance, let’s say you want to calculate the units of alcohol in a bottle of lager. If the ABV is 3% and the volume is 330ml, the calculation would be 3% x 330ml divided by 1000, which equals 0.99 units rounded up to 1 unit. If the person drinks two bottles a day, that’s 2 units per day or 14 units per week. Similarly, if the person drinks one bottle of wine per week, and the ABV is 12% and the volume is 750ml, the calculation would be 12% x 750ml divided by 1000, which equals 9 units per bottle.

      It’s important to be aware of potential pitfalls when calculating units of alcohol, such as checking the units of volume and adjusting for duration. By this simple calculation, you can be prepared for any question that may come up in an exam setting. The UK recommendations for alcohol consumption are no more than 14 units per week for both sexes. While calculating units of alcohol may seem daunting, with practice and preparation, you can confidently tackle any question that comes your way.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 16 - The arrangement of amphipathic phospholipids in the mammalian cell membrane, what is it...

    Incorrect

    • The arrangement of amphipathic phospholipids in the mammalian cell membrane, what is it like?

      Your Answer:

      Correct Answer: A lipid bilayer with hydrophilic heads facing out and hydrophobic tails facing in

      Explanation:

      The Function and Structure of the Mammalian Cell Membrane

      The mammalian cell membrane serves as a protective barrier that separates the cytoplasm from the extracellular environment. It also acts as a filter for molecules that move across it. Unlike plant and prokaryotic cells, mammalian cells do not have a cell wall. The main component of the cell membrane is a bilayer of amphipathic lipids, which have a hydrophilic head and a hydrophobic tail. The phospholipids in the bilayer are oriented with their hydrophilic heads facing outward and their hydrophobic tails facing inward. This arrangement allows for the separation of the watery extracellular environment from the watery intracellular compartment.

      It is important to note that the cell membrane is not a monolayer and the phospholipids are not linked head-to-tail. This is in contrast to DNA, which has a helical chain formation. Overall, the structure and function of the mammalian cell membrane are crucial for maintaining the integrity and proper functioning of the cell.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 17 - During which stage of the cell cycle does the replication of DNA occur?...

    Incorrect

    • During which stage of the cell cycle does the replication of DNA occur?

      Your Answer:

      Correct Answer: S phase

      Explanation:

      The Five Phases of the Cell Cycle

      The cell cycle is a complex process that is divided into five main phases, each with its unique cellular events. The first phase is the G0 phase, which is a resting phase where the cell has stopped dividing and is out of the cell cycle. The second phase is the G1 phase, also known as interphase Gap 1, where cells increase in size, and a checkpoint control mechanism prepares the cell for DNA synthesis.

      The third phase is the S phase, where DNA replication occurs. The fourth phase is the G2 phase, also known as Gap 2, which is a gap between DNA synthesis and the onset of mitosis. During this phase, the cell continues to grow until it is ready to enter mitosis. Finally, the fifth phase is the M phase, also known as mitosis, where cell growth stops, and the cell focuses its energy to divide into two daughter cells.

      A checkpoint in the middle of mitosis, known as the metaphase checkpoint, ensures that the cell is prepared to complete division. the five phases of the cell cycle is crucial in how cells divide and grow.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 18 - What could be a potential cause of metabolic acidosis? ...

    Incorrect

    • What could be a potential cause of metabolic acidosis?

      Your Answer:

      Correct Answer: Poorly controlled diabetes

      Explanation:

      Acid-Base Imbalances in Different Medical Conditions

      Poorly controlled diabetes can cause the breakdown of fatty acids, leading to the production of ketones as an alternative energy source. However, an excess of ketones can result in metabolic acidosis due to their acidic nature. On the other hand, chronic obstructive pulmonary disease (COPD) and suffocation can cause the retention of carbon dioxide, leading to respiratory acidosis. In COPD, there may be a compensatory metabolic alkalosis. Voluntary hyperventilation can cause respiratory alkalosis due to the reduction of carbon dioxide. Vomiting can also lead to metabolic alkalosis. Diabetic ketoacidosis is a complication of type 1 diabetes that results in high blood sugar levels, ketone production, and acidosis.

      In summary, different medical conditions can cause acid-base imbalances in the body. It is important to identify the underlying cause of the imbalance to provide appropriate treatment.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 19 - A 65-year-old patient with suspected spinal cord compression has been admitted to the...

    Incorrect

    • A 65-year-old patient with suspected spinal cord compression has been admitted to the neurosurgical team for an urgent MRI of the spine. Which particle's magnetic properties does magnetic resonance imaging rely predominantly upon?

      Your Answer:

      Correct Answer: Hydrogen ion (proton)

      Explanation:

      How MRI Scanners Use Hydrogen Ions to Create Images

      MRI scanners use the magnetic properties of hydrogen ions, also known as protons, to create images of the human body. These protons have nuclear spin, which means they have magnetic vectors that can be aligned in an electromagnet. The scanner bombards the protons with radiofrequency radiation, causing them to release energy when they return to their resting state. This energy release is recorded and used to construct the MRI image.

      While other nuclei, such as carbon 13, also have nuclear spin and could be used in MRI imaging, hydrogen ions are much more abundant in human tissues. This makes them the preferred choice for creating images of the body. The process of aligning the magnetic vectors of the protons and then recording their energy release is repeated many times to create a detailed image of the body’s internal structures.

      Overall, MRI scanners use the magnetic properties of hydrogen ions to create detailed images of the human body. This non-invasive imaging technique has revolutionized medical diagnosis and treatment, allowing doctors to see inside the body without the need for surgery.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 20 - A couple in their late 30s come to the clinic seeking information about...

    Incorrect

    • A couple in their late 30s come to the clinic seeking information about the risk of their three children inheriting Huntington's disease. The husband has recently been diagnosed with the disease, while the wife is not affected. What is the likelihood, expressed as a percentage, that their children will inherit the disease?

      Your Answer:

      Correct Answer: 50%

      Explanation:

      Huntington’s Disease

      Huntington’s disease is a genetic disorder that typically appears later in life and is characterized by symptoms such as chorea, cognitive decline, and personality changes. It is an autosomal dominant disease, meaning that there is a 50% chance of passing it on to offspring. If the gene is inherited from an unaffected parent, the child will not be affected. This is different from autosomal recessive inheritance, where both parents must pass on the gene for it to affect their children.

      The disease is caused by an increase in the length of a repeating trinucleotide sequence (CAG) in the Huntington protein. This sequence can change in length through generations, and longer sequences are associated with earlier onset of symptoms (genetic anticipation). Since Huntington’s disease usually presents itself after people have already started their families, there are many issues associated with genetic testing.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 21 - A 10-year-old patient presents with recurrent skin cancer and is diagnosed with xeroderma...

    Incorrect

    • A 10-year-old patient presents with recurrent skin cancer and is diagnosed with xeroderma pigmentosum. What is the defective biochemical mechanism in this disease?

      Your Answer:

      Correct Answer: DNA excision repair

      Explanation:

      Xeroderma Pigmentosum and DNA Repair

      Deoxyribonucleic acid (DNA) found in the skin cells can absorb ultraviolet (UV) light, which can cause the formation of pyrimidine dimers. These dimers are removed through a process called excision repair, where the damaged DNA is cut out and replaced with new DNA. However, if this process fails, it can lead to mutations in genes that suppress tumors or promote their growth, potentially leading to cancer.

      Xeroderma pigmentosum is a genetic disorder that is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. Generally, disorders that affect metabolism or DNA replication on a cellular or genetic level are inherited in an autosomal recessive pattern. On the other hand, genetic disorders that affect larger structural components are usually inherited in an autosomal dominant pattern. While there are exceptions to these rules, they can serve as a helpful guide for exam preparation.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 22 - What are the potential clinical consequences of a lack of vitamin E? ...

    Incorrect

    • What are the potential clinical consequences of a lack of vitamin E?

      Your Answer:

      Correct Answer: Ataxia

      Explanation:

      Vitamin E Deficiency

      Vitamin E deficiency is a rare condition that is more likely to occur in individuals with problems affecting the absorption of dietary fats. This includes those with a history of bowel surgery, pancreatic insufficiency, and cystic fibrosis. Premature infants are also at a higher risk of developing this deficiency as vitamin E does not easily cross the placenta. However, supplementation with vitamin E can reverse the damage in some cases.

      The effects of vitamin E deficiency can be severe and can cause spinocerebellar degeneration, which includes limb ataxia, loss of joint position sense, loss of sensation of vibration, and loss of deep tendon reflexes. Additionally, it can cause degeneration of retinal pigments, leading to blindness. In premature infants, it can cause haemolytic anaemia, thrombocytosis, and oedema.

      Overall, vitamin E deficiency is crucial in preventing and treating its effects. It is important to identify individuals who are at a higher risk of developing this deficiency and provide them with appropriate supplementation to prevent any long-term damage.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 23 - You encounter a patient in the Emergency department who has been in a...

    Incorrect

    • You encounter a patient in the Emergency department who has been in a severe car accident. You need to insert a venous cannula for aggressive fluid resuscitation. Applying the Hagen-Poiseuille equation, you select a cannula with appropriate dimensions for maximum flow into the vein.
      As per this law, which of the following statements is correct?

      Your Answer:

      Correct Answer: Flow will be faster through a shorter cannula

      Explanation:

      Poiseuille’s Equation and Fluid Flow in Cylinders

      Poiseuille’s equation is used to describe the flow of non-pulsatile laminar fluids through a cylinder. The equation states that the flow rate is directly proportional to the pressure driving the fluid and the fourth power of the radius. Additionally, it is inversely proportional to the viscosity of the fluid and the length of the tube. This means that a short, wide cannula with pressure on the bag will deliver fluids more rapidly than a long, narrow one.

      It is important to note that even small changes in the radius of a tube can greatly affect the flow rate. This is because the fourth power of the radius is used in the equation. Therefore, any changes in the radius will have a significant impact on the flow rate. Poiseuille’s equation is crucial in determining the optimal conditions for fluid delivery in medical settings.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 24 - What are the vitamins that are soluble in fat? ...

    Incorrect

    • What are the vitamins that are soluble in fat?

      Your Answer:

      Correct Answer: Vitamins A, D, E and K

      Explanation:

      Absorption of Fat-Soluble Vitamins

      Fat-soluble vitamins, namely A, D, E, and K, have a different absorption process compared to water-soluble vitamins. In the gut, these vitamins are combined with other fat-soluble substances such as monoacylglycerols and cholesterol to form micelles. These micelles are then transported to the lymphatic system and eventually enter the bloodstream through the subclavian vein.

      However, any issues that affect the absorption of fats will also impact the absorption of fat-soluble vitamins. This means that individuals with conditions that affect fat absorption, such as cystic fibrosis or celiac disease, may have difficulty absorbing these vitamins. It is important to ensure adequate intake of fat-soluble vitamins through a balanced diet or supplements to prevent deficiencies and associated health problems.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 25 - A 29-year-old woman visits your clinic with concerns about a possible pregnancy.

    Can...

    Incorrect

    • A 29-year-old woman visits your clinic with concerns about a possible pregnancy.

      Can you explain the mechanism behind a urinary pregnancy test?

      Your Answer:

      Correct Answer: ELISA

      Explanation:

      Techniques in Biochemistry

      Over-the-counter urine pregnancy tests use ELISA to detect beta-HCG in a woman’s urine. The test stick contains antibodies that react with beta-HCG, producing a color change that confirms pregnancy. The urinary pregnancy test is a solid-phase ELISA, where the antibody is immobilized on a specialized filter paper. The fluid travels laterally across the paper to bind with the antibody, and if beta-HCG is present, the line turns blue. Electrophoresis characterizes the electrical charge and size of substances, while PCR identifies specific sequences of DNA or RNA. Radioimmunoassay uses radioactivity to identify specific proteins. Enzymatic degradation breaks down large proteins into smaller subunits for which target antibodies may already exist. This method is used to characterize large proteins for which the structure has not yet been described.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 26 - What are the defining features of an amino acid? ...

    Incorrect

    • What are the defining features of an amino acid?

      Your Answer:

      Correct Answer: It has the formula H2N - CHR - COOH where R is the variable group

      Explanation:

      The Versatility of Amino Acids and its Applications in Electrophoresis

      Amino acids are the building blocks of proteins and are composed of a basic structure of H2N – CHR – COOH, where R represents the variable group that distinguishes one amino acid from another. The simplest amino acid is glycine, where the R group is just H. Amino acids are capable of forming complex and useful molecules due to their dipolar or amphoteric nature, which makes them simultaneously acidic and basic. In solution, they form zwitterions, which can act as either an acid or a base depending on the pH of the solution. This versatility of amino acids is what allows for the process of electrophoresis, which separates proteins based on their charge in a solution. By using solutions of different pH, different proteins can be assessed, making it a useful tool in the diagnosis of bone marrow malignancies like myeloma.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 27 - What is the cause of the symptoms of weakness, dermatitis, diarrhoea and dementia...

    Incorrect

    • What is the cause of the symptoms of weakness, dermatitis, diarrhoea and dementia in pellagra?

      Your Answer:

      Correct Answer: Deficiency of the vitamin niacin

      Explanation:

      Niacin Deficiency and Other Genetic Diseases

      Niacin, a vitamin present in two forms – nicotinamide and nicotinic acid, is found in a variety of plant and animal foodstuffs. However, in some cases, the form of the vitamin is not easily absorbed by the human body, leading to deficiency. This deficiency is common in areas where maize is the primary dietary carbohydrate. Additionally, niacin can be produced by the body from the amino acid tryptophan. Diseases that affect the availability of tryptophan, such as Hartnup disease and carcinoid syndrome, can also result in niacin deficiency.

      Pellagra is a condition that arises from niacin deficiency. It initially presents with non-specific symptoms such as nausea, fatigue, and reduced appetite, followed by pigmented dermatitis in sun-exposed areas, gastrointestinal disturbance, mood disturbance, and dementia in severe cases.

      Apart from niacin deficiency, genetic diseases affecting collagen synthesis, such as Ehlers Danlos, present with symptoms of fragile stretchy skin and joint hypermobility. Genetic diseases affecting haemoglobin, such as sickle cell anaemia, present with symptoms of pain, hepatosplenomegaly, shortness of breath, and anaemia. Deficiencies in B12 and folate can also lead to macrocytic anaemia, paresthesia, and lethargy.

      In conclusion, the causes and symptoms of niacin deficiency and other genetic diseases is crucial for early diagnosis and effective treatment. A balanced diet and regular medical check-ups can help prevent and manage these conditions.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 28 - What is the primary role of the nucleus in a eukaryotic cell? ...

    Incorrect

    • What is the primary role of the nucleus in a eukaryotic cell?

      Your Answer:

      Correct Answer: To regulate gene transcription and translation

      Explanation:

      The Nucleus: Control Centre of the Cell

      The nucleus is the control centre of the cell, responsible for regulating gene transcription from DNA into mRNA and from mRNA into peptide/protein synthesis. Eukaryotic cells have a membrane-enclosed organised nucleus, while prokaryotic cells lack this structure. The nuclear structure consists of an outer and inner nuclear membrane that form the nuclear envelope, which has nuclear pores allowing the movement of water-soluble molecules. Inside the nucleus is the nucleoplasm containing the nuclear lamina, a dense fibrillar network that acts as a skeleton and regulates DNA replication and cell division. The nucleus also contains nucleoli, structures involved in the formation of ribosomes responsible for mRNA translation.

      Although the incorrect answer options above describe processes in which the nucleus is involved, none of them constitutes its main function within the cell.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 29 - Over the last five years, the total number of patients admitted and deaths...

    Incorrect

    • Over the last five years, the total number of patients admitted and deaths in the East and North Hertfordshire NHS Trust have been recorded. In the year 2010/2011, there were 95,071 patients admitted and 1,912 deaths. What is the crude mortality ratio for this group in that year (per 100 admissions)?

      Your Answer:

      Correct Answer: 2

      Explanation:

      In this scenario, the crude mortality ratio is established by comparing the number of deaths occurring within the hospital in a given year to the total number of admissions, disregarding age or gender-specific mortality rates. For instance, with 1,912 deaths out of 95,071 admissions, the ratio computes to 0.02, or 2.0% when calculated per 100 admissions (1,912/95,071 = 0.02/100= 2.0%. When recalculated per 1,000 admissions, the crude admission rate would be 20 per 1,000.

    • This question is part of the following fields:

      • Basic Sciences
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  • Question 30 - What RNA base pairs with adenine when synthesizing a complementary RNA strand from...

    Incorrect

    • What RNA base pairs with adenine when synthesizing a complementary RNA strand from DNA, using RNA polymerase to split the helix at specific points?

      Your Answer:

      Correct Answer: Uracil

      Explanation:

      Differences between DNA and RNA

      DNA and RNA differ in several ways. The primary sugar in DNA is deoxyribose, while in RNA it is ribose. Additionally, DNA is double stranded, while RNA is single stranded. This single stranded structure with un-paired bases allows for transcription to occur when the DNA bases are freed. Each base has a specific pairing, with guanine always binding to cytosine and adenine always binding to thymine in the DNA strand. During transcription, the same complementary RNA bases assemble with the DNA bases, except for thymine, which is not an RNA base. Instead, uracil serves as the RNA pyrimidine base equivalent of thymine. Finally, lysine is an amino acid coded for by the RNA base triplet AAA, where A represents adenine.

    • This question is part of the following fields:

      • Basic Sciences
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