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Question 1
Correct
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A 32-year-old woman presents with heavy menstrual bleeding and a haemoglobin level of 102 g/L. Iron studies are ordered to investigate for iron-deficiency anaemia. What result would support this diagnosis?
Your Answer: ↓ Ferritin, ↑ total iron-binding capacity, ↓ serum iron, ↓ transferrin saturation
Explanation:In cases of iron-deficiency anemia, it is common for both the total iron-binding capacity (TIBC) and transferrin levels to be elevated. However, it should be noted that the transferrin saturation level is typically decreased.
Iron deficiency anaemia is caused by a lack of iron, which is needed to make haemoglobin in red blood cells. It is the most common type of anaemia worldwide, with preschool-age children having the highest prevalence. Causes include excessive blood loss, inadequate dietary intake, poor intestinal absorption, and increased iron requirements. Symptoms include fatigue, shortness of breath, palpitations, and nail changes. Diagnosis is made through a full blood count and serum ferritin test. Treatment involves identifying and managing the underlying cause, as well as taking oral iron supplements and consuming an iron-rich diet.
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This question is part of the following fields:
- Haematology/Oncology
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Question 2
Correct
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A 28-year-old pregnant woman is brought into the Emergency Department with acute confusion and abnormal behaviour. Her husband says she has been well till today. There is no past medical history of note and she takes no regular medication.
On examination, she is febrile with a temperature of 38.7 °C. Her heart rate is 125 bpm with a blood pressure of 115/95 mmHg. Chest sounds are clear and heart sounds are normal. She has a soft abdomen with a palpable uterus in keeping with 16 weeks’ gestation.
Investigations:
Investigation Result Normal value
Haemoglobin (Hb) 92 g/l 115–155 g/l
White cell count (WCC) 10.3 × 109/l 4.0–11.0 × 109/l
Neutrophils 7.1 × 109/l 2.5–7.5 × 109/l
Lymphocytes 0.9 × 109/l 0.8–5.0 × 109/l
Platelets (PLT) 57 × 109/l 150–400 × 109/l
Sodium (Na+) 136 mmol/l 135–145 mmol/l
Potassium (K+) 4.5 mmol/l 3.5–5.0 mmol/l
Urea 17.3 mmol/l 1.8–7.1 mmol/l
Creatinine (Cr) 225µmol/l 50–120 µmol/l
Estimated glomerular filtration rate (eGFR) 34 60+
Bilirubin 20µmol/l 1–22 µmol/l
Alanine aminotransferase (ALT) 35 U/l 7–55 U/l
Alkaline phosphatase (ALP) 85 U/l 30–150 U/l
Albumin 40 g/l 35–55 g/l
C-reactive protein (CRP) 9 mg/l < 10 mg/l
Which of the following is the best investigation to confirm the likely diagnosis?
Select ONE option onlyYour Answer: Blood film
Explanation:Investigations for Thrombotic Thrombocytopenic Purpura in a Pregnant Patient with Fever and Confusion
Thrombotic thrombocytopenic purpura (TTP) should be considered in a pregnant patient presenting with fever, acute kidney injury, cerebral dysfunction, thrombocytopenia, and microangiopathic hemolytic anemia. To confirm the diagnosis, a blood film is needed to show the presence of schistocytes from the destruction of red blood cells. An abdominal ultrasound may be considered, but it will not aid in identifying the underlying diagnosis. Although a blood culture is appropriate, it would not confirm the diagnosis. A CT head or lumbar puncture may be useful in excluding visible organic pathology, but they do not play a role in the diagnosis of TTP.
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This question is part of the following fields:
- Haematology/Oncology
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Question 3
Incorrect
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A 28-year-old woman visits her GP with concerns about a lump in her breast that she discovered three weeks ago. The lump is causing discomfort when she wears a bra. During the examination, the doctor detects a 4 cm, non-tethered, and firm lump in the upper left quadrant of her right breast. The surface and contour are smooth, the skin is intact, and it does not transilluminate. The doctor refers her for a triple assessment, which confirms that she has a fibroadenoma. What is the next step in her treatment plan?
Your Answer: Discharge and safety netting
Correct Answer: Refer for surgical excision
Explanation:The appropriate action for a patient presenting with a breast fibroadenoma larger than 3 cm is to refer them for surgical excision. Fibroadenomas are benign masses that develop from the whole lobule and are typically small, firm, and smooth, often referred to as breast mice. While they are usually treated conservatively, surgical excision is necessary if they cause discomfort, as in this case. Checking the mass again in three months, discharge and safety netting, prescribing oral antibiotics, and referring for aspiration are all incorrect management options for a fibroadenoma.
Understanding Breast Fibroadenoma
Breast fibroadenoma is a type of breast mass that develops from a whole lobule. It is characterized by a mobile, firm, and smooth lump in the breast, which is often referred to as a breast mouse. Fibroadenoma accounts for about 12% of all breast masses and is more common in women under the age of 30.
Fortunately, fibroadenomas are usually benign and do not increase the risk of developing breast cancer. In fact, over a two-year period, up to 30% of fibroadenomas may even get smaller on their own. However, if the lump is larger than 3 cm, surgical excision is typically recommended.
In summary, breast fibroadenoma is a common type of breast mass that is usually benign and does not increase the risk of breast cancer. While it may cause concern for some women, it is important to remember that most fibroadenomas do not require treatment and may even resolve on their own.
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This question is part of the following fields:
- Haematology/Oncology
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Question 4
Correct
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A 32-year-old man presents to his General Practitioner having been feeling unwell for a few days with a persistent cough.
Investigations:
Investigation Result Normal value
Haemoglobin (Hb) 130 g/l 120–160 g/l
White cell count (WCC) 18 × 109/l 4.5–11.0 × 109/l
Neutrophils 12 × 109/l 2.0–7.5 × 109/l
Platelets (PLT) 450 × 109/l 150–400 × 109/l
A blood film shows atypical lymphocytes.
What is the most likely diagnosis?Your Answer: Acute bacterial infection
Explanation:Differential Diagnosis for a Patient with Abnormal Full Blood Count Results
When a patient presents with abnormal full blood count (FBC) results, it is important to consider a range of potential diagnoses. In this case, the patient has neutrophilia and atypical lymphocytes, indicating an acute bacterial infection. Other potential diagnoses, such as chronic myeloid leukaemia, tuberculosis, cytomegalovirus infection, and pregnancy, can be ruled out based on the absence of key symptoms and blood film findings. Clinical prediction scores can be used to aid in antibiotic stewardship. It is important to consider all potential diagnoses and conduct further testing as needed to ensure accurate diagnosis and appropriate treatment.
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This question is part of the following fields:
- Haematology/Oncology
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Question 5
Incorrect
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An 80-year-old man is receiving treatment at the Haematology Clinic for multiple myeloma (MM). He is a newly diagnosed non-transplant candidate.
Various blood tests are being conducted to monitor response to treatment and determine prognosis.
What is considered the most crucial factor for predicting survival and prognosis?Your Answer: Lactate dehydrogenase (LDH)
Correct Answer: Beta-2 microglobulin
Explanation:Prognostic Factors in Multiple Myeloma
Multiple myeloma is a type of cancer that affects plasma cells in the bone marrow. Prognostic factors are important in determining the severity of the disease and predicting survival rates. Here are some key factors to consider:
Beta-2 microglobulin: This protein is found on the surface of all nucleated cells and is associated with the human leukocyte antigen (HLA)–histocompatibility complex. Elevated levels of serum beta-2 microglobulin are linked to poor prognosis in multiple myeloma patients.
Serum creatinine: High levels of creatinine indicate renal impairment, which is common in multiple myeloma patients and is associated with a poor prognosis.
Albumin: Low levels of albumin are related to the extent of myeloma proliferation and are therefore of diagnostic and prognostic importance. An albumin level of 29.0 g/l or less is a sign of advanced disease.
C-Reactive protein (CRP): Elevated CRP levels before autologous stem-cell transplantation (ASCT) are associated with worse overall survival in multiple myeloma patients, especially those who had a transplant more than 12 months after diagnosis.
Lactate dehydrogenase (LDH): High LDH levels at the time of diagnosis are a marker of poor prognosis in multiple myeloma patients. Increased LDH is associated with worse overall survival, progression-free survival, aggressive disease, and high tumor burden.
Understanding these prognostic factors can help healthcare providers make informed decisions about treatment options and provide patients with more accurate information about their disease.
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This question is part of the following fields:
- Haematology/Oncology
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Question 6
Incorrect
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A 68-year-old woman is referred with fatigue. Her primary care physician observes that she has jaundice and suspects liver disease. She also presents with angular cheilitis. She has a history of taking steroid inhalers for asthma, but no other significant medical history. A blood smear shows signs of megaloblastic anemia, and her serum bilirubin level is elevated, but her other laboratory results are normal. There are no indications of gastrointestinal (GI) issues.
What is the most appropriate diagnosis for this clinical presentation?Your Answer: Autoimmune hepatitis
Correct Answer: Pernicious anaemia
Explanation:Differential Diagnosis of Anaemia: Understanding the Causes
Anaemia is a common condition that can be caused by a variety of factors. Here, we will discuss some of the possible causes of anaemia and their corresponding laboratory findings.
Pernicious Anaemia: This type of anaemia is caused by a deficiency in vitamin B12 due to impaired intrinsic factor (IF) production. It is usually seen in adults aged 40-70 years and is characterized by megaloblastic changes in rapidly dividing cells. Anti-parietal cell antibodies are present in 90% of patients with pernicious anaemia. The Schilling test is useful in confirming the absence of IF. Treatment involves parenteral administration of cyanocobalamin or hydroxycobalamin.
Chronic Myeloid Leukaemia: CML is a myeloproliferative disorder that results in increased proliferation of granulocytic cells. Symptoms include fatigue, anorexia, weight loss, and hepatosplenomegaly. Mild to moderate anaemia is usually normochromic and normocytic. Diagnosis is based on histopathological findings in the peripheral blood and Philadelphia chromosome in bone marrow cells.
Iron Deficiency Anaemia: This type of anaemia is primarily a laboratory diagnosis and is characterized by microcytic and hypochromic erythropoiesis. It is caused by chronic iron deficiency and can be due to multiple causes, including chronic inflammation, iron malabsorption, chronic blood loss, and malabsorption of vitamin B12 or folate.
Crohn’s Disease: This chronic inflammatory process can affect any part of the GI tract and can cause anaemia due to chronic inflammation, iron malabsorption, chronic blood loss, and malabsorption of vitamin B12 or folate. However, the lack of GI symptoms in the clinical scenario provided is not consistent with a history of inflammatory bowel disease.
Autoimmune Hepatitis: This chronic disease is characterized by continuing hepatocellular inflammation and necrosis, with a tendency to progress to cirrhosis. Elevated serum aminotransferase levels are present in 100% of patients at initial presentation. Anaemia, if present, is usually normochromic. However, this clinical picture and laboratory findings are not consistent with the scenario given.
In conclusion, understanding the different causes of anaemia and their corresponding laboratory findings is crucial in making an accurate diagnosis and providing appropriate treatment.
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This question is part of the following fields:
- Haematology/Oncology
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Question 7
Correct
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A 65-year-old woman is diagnosed with a DVT 2 weeks after undergoing a hip replacement surgery, despite being on prophylactic dose LMWH. She has a history of osteoarthritis but no other significant medical history. The treatment for her DVT is started with LMWH. What is the best anticoagulation plan for her?
Your Answer: Switch to direct oral anticoagulant for 3 months
Explanation:For cases of venous thromboembolism that are provoked, such as those resulting from recent surgery, a standard length of warfarin treatment is 3 months. However, for unprovoked cases, the recommended length of treatment is 6 months.
NICE updated their guidelines on the investigation and management of venous thromboembolism (VTE) in 2020. The use of direct oral anticoagulants (DOACs) is recommended as first-line treatment for most people with VTE, including as interim anticoagulants before a definite diagnosis is made. Routine cancer screening is no longer recommended following a VTE diagnosis. The cornerstone of VTE management is anticoagulant therapy, with DOACs being the preferred choice. All patients should have anticoagulation for at least 3 months, with the length of anticoagulation being determined by whether the VTE was provoked or unprovoked.
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This question is part of the following fields:
- Haematology/Oncology
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Question 8
Correct
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A 56-year-old man has been experiencing fatigue and bone pain, prompting his regular GP to conduct investigations. Blood tests revealed an elevated paraprotein level, leading to further investigations to rule out multiple myeloma as the primary differential. What other potential cause could result in a raised paraprotein level?
Your Answer: MGUS (Monoclonal gammopathy of undetermined significance)
Explanation:MGUS is a possible differential diagnosis for elevated paraproteins in the blood.
Thrombocytopenia is a characteristic feature of haemolytic uraemic syndrome.
The presence of paraproteins in the blood is an abnormal finding and not a normal variant.
While a viral infection may cause neutropenia, it would not typically result in the presence of paraproteins in the blood.
Paraproteinaemia is a medical condition characterized by the presence of abnormal proteins in the blood. There are various causes of paraproteinaemia, including myeloma, monoclonal gammopathy of uncertain significance (MGUS), benign monoclonal gammopathy, Waldenstrom’s macroglobulinaemia, amyloidosis, CLL, lymphoma, heavy chain disease, and POEMS. Benign monoclonal gammopathy can also cause paraproteinaemia, as well as non-lymphoid malignancy (such as colon or breast cancer), infections (such as CMV or hepatitis), and autoimmune disorders (such as RA or SLE).
Paraproteinaemia is a medical condition that is characterized by the presence of abnormal proteins in the blood. This condition can be caused by various factors, including myeloma, MGUS, benign monoclonal gammopathy, Waldenstrom’s macroglobulinaemia, amyloidosis, CLL, lymphoma, heavy chain disease, and POEMS. Additionally, benign monoclonal gammopathy, non-lymphoid malignancy (such as colon or breast cancer), infections (such as CMV or hepatitis), and autoimmune disorders (such as RA or SLE) can also cause paraproteinaemia. It is important to identify the underlying cause of paraproteinaemia in order to determine the appropriate treatment plan.
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This question is part of the following fields:
- Haematology/Oncology
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Question 9
Correct
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A 32-year-old woman visits her GP with a breast lump. The lump is painless and she reports first noticing it 3 weeks ago. During examination, a hard, non-mobile lump measuring 2cm x 2cm is detected in the upper, outer quadrant of her right breast. What is the best course of action?
Your Answer: Urgent suspected cancer referral to the breast team
Explanation:If a woman over the age of 30 presents with an unexplained breast lump, it is important to refer her urgently to the breast team using a suspected cancer pathway referral. It is important to inform the patient that they are being referred to a cancer service, but also explain that not all referrals to cancer services result in a cancer diagnosis. It is incorrect to perform a biopsy as an initial investigation, as this will be done in secondary care. While fibroadenoma is a common cause of breast lumps in young women, urgent referral to the breast team is necessary to rule out cancer in patients over 30 years old. It is not appropriate to schedule a GP review in 2 weeks, as this lump needs prompt investigation by the breast team.
In 2015, NICE released guidelines for referring individuals suspected of having breast cancer. If a person is 30 years or older and has an unexplained breast lump with or without pain, or if they are 50 years or older and have discharge, retraction, or other concerning changes in one nipple only, they should be referred using a suspected cancer pathway referral for an appointment within two weeks. If a person has skin changes that suggest breast cancer or is 30 years or older with an unexplained lump in the axilla, a suspected cancer pathway referral should also be considered. For individuals under 30 years old with an unexplained breast lump with or without pain, non-urgent referral should be considered.
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This question is part of the following fields:
- Haematology/Oncology
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Question 10
Correct
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A patient underwent an 80-cm ileum resection for Crohn's disease 2 years ago. She now presents with anaemia. Her haemoglobin is 88 g/l (female – 120–160 g/l) and mean corpuscular haemoglobin (Mean Corpuscular Volume) 105 fl/red cell (normal 80-96 fl/red cell.
Which of the following is the most likely cause?
Your Answer: Impaired vitamin B12 absorption
Explanation:Causes of Different Types of Anaemia
Anaemia is a condition characterized by a decrease in the number of red blood cells or a decrease in the amount of haemoglobin in the blood. There are different types of anaemia, and each has its own causes. Here are some of the causes of different types of anaemia:
Impaired Vitamin B12 Absorption: Vitamin B12 deficiency is a potential consequence of ileal resection and Crohn’s disease. Vitamin B12 injections may be required. Vitamin B12 deficiency causes a macrocytic anaemia.
Impaired Iron Absorption: Iron deficiency causes a microcytic anaemia. Iron deficiency anaemia is multifactorial, with gastrointestinal (GI), malabsorption and gynaecological causes being the most common causes. Ileal resection is not associated with impaired iron absorption, but gastrectomy can be.
Chronic Bleeding after Surgery: Iron deficiency due to chronic blood loss causes a microcytic anaemia. Acute blood loss would cause a normocytic anaemia.
Haemolysis: Haemolysis is the abnormal destruction of red blood cells. It causes a normocytic anaemia.
Bacterial Infection: A bacterial infection is not a common cause of anaemia.
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This question is part of the following fields:
- Haematology/Oncology
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Question 11
Correct
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A 45-year-old woman with a 30-pack-year history of smoking visits her General Practitioner with complaints of dark urine, nausea and overall weakness. She reports experiencing a seizure and was admitted to the hospital where she was diagnosed with a 'hormone tumor'. What is the most probable diagnosis?
Your Answer: Small-cell carcinoma of the lung (SCLC)
Explanation:Small-cell carcinoma of the lung (SCLC) is a type of lung cancer that is often associated with a condition called syndrome of inappropriate antidiuretic hormone syndrome (SIADH). SIADH is caused by the abnormal release of anti-diuretic hormone (ADH), which leads to impaired water excretion and hyponatremia. This can result in symptoms such as nausea, weakness, confusion, and seizures. While SCLC is the most common cause of SIADH, it can also be caused by other types of cancer, certain drugs, intracranial lesions, and infections. Squamous-cell carcinoma (SCC) of the lung, on the other hand, does not typically result in SIADH as it does not originate from neuroendocrine cells. Pancreatic cancer can also cause SIADH, but it is less common than in SCLC. Prostate cancer, which is the second most common cancer globally, does not usually present with hormonal effects but rather with lower urinary tract symptoms. Bronchial carcinoid tumors, which are neuroendocrine tumors of the lung, can cause hormonal effects such as weight gain, high blood pressure, and hirsutism, but these symptoms are not indicated in the scenario given.
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This question is part of the following fields:
- Haematology/Oncology
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Question 12
Incorrect
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A 55-year-old man is referred to the Haematology Clinic under the 2-week-wait rule with significant fatigue and frequent infections over the past six months. His blood results confirm a diagnosis of chronic lymphocytic leukaemia (CLL) with a 17p chromosome deletion.
Which of the following is the most appropriate first-line treatment?Your Answer: Imatinib
Correct Answer: Acalabrutinib
Explanation:Treatment Options for Chronic Lymphocytic Leukaemia (CLL)
The National Institute for Health and Care Excellence (NICE) has released new guidelines for managing newly diagnosed CLL in adults. Acalabrutinib is recommended as a monotherapy option if the patient has a 17p deletion or TP53 mutation, or if fludarabine plus cyclophosphamide and rituximab (FCR) or bendamustine plus rituximab (BR) are unsuitable. Prednisolone, a glucocorticoid commonly used in treating lymphoma, has no role in managing CLL. If there is no 17p deletion or TP53 mutation, FCR or BR would be the most appropriate first-line treatment. Conservative management is not recommended as the patient has developed signs of bone marrow dysfunction. Imatinib, the first-line treatment for CML, would not be useful for CLL.
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This question is part of the following fields:
- Haematology/Oncology
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Question 13
Correct
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An 85-year-old man complains of increasing back pain and overall weakness. An X-ray of his back reveals multiple vertebral collapses and lytic lesions.
What is the most probable diagnosis?Your Answer: Multiple myeloma
Explanation:Understanding Multiple Myeloma: A Malignant Disease of Plasma Cells
Multiple myeloma is a malignant disease of plasma cells that commonly affects adults aged over 60 years. It is characterized by the production of paraproteinaemia in the blood, which can affect multiple organs including the blood, bone, kidneys, and immune system. The most common symptoms of multiple myeloma include unexplained bone pain, hypercalcaemia, weight loss, hyperviscosity symptoms, spinal cord compression, and fever.
On the other hand, osteoporosis is a condition characterized by low bone mass and deterioration of the structure of the bone tissue, resulting in bone fragility and susceptibility to fracture. Multiple vertebral collapses and lytic lesions are more sinister in nature and are commonly associated with multiple myeloma.
Osteosarcoma, bone metastases, and chronic myeloblastic leukaemia (CML) are not related to multiple myeloma. Osteosarcoma is characterized by cortical destruction and the presence of a soft-tissue mass, while bone metastases usually lead to destruction of the cortex on plain radiographs. Symptoms of CML include fatigue, night sweats, weight loss, abdominal fullness, and left upper quadrant pain.
In summary, understanding the symptoms and characteristics of multiple myeloma is crucial in diagnosing and treating this malignant disease of plasma cells.
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This question is part of the following fields:
- Haematology/Oncology
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Question 14
Incorrect
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A 6-year-old boy is brought to see his General Practitioner by his father, who is concerned as his son has a 4-day history of abdominal pain and fever. He seems to have lost his appetite and has been waking in the night with night sweats for the last week.
On examination, there is a large palpable abdominal mass and hepatomegaly. A urine dipstick is negative for blood, protein, leukocytes and nitrates.
What is the most likely diagnosis?Your Answer: Wilms’ tumour
Correct Answer: Burkitt’s lymphoma
Explanation:Pediatric Abdominal Mass: Possible Causes and Symptoms
When a child presents with an abdominal mass, it can be a sign of various conditions, including malignancies. Here are some possible causes and symptoms to consider:
1. Burkitt’s lymphoma: This aggressive non-Hodgkin’s lymphoma commonly affects children and presents with abdominal pain, an abdominal mass, splenomegaly, and B symptoms such as fever and weight loss.
2. Wilms’ tumour: This malignant kidney tumour usually affects young children and presents with an asymptomatic abdominal mass, hypertension, haematuria, or urinary tract infection. Splenomegaly is not expected.
3. Hepatoblastoma: This rare malignant liver tumour usually presents with an asymptomatic abdominal mass in the right upper quadrant. However, if the child has symptoms and splenomegaly, it may suggest a haematological malignancy.
4. Neuroblastoma: This rare malignancy commonly affects children under five and presents with an abdominal mass. Symptoms are rare in early disease, but if present, may suggest a haematological malignancy.
5. Phaeochromocytoma: This rare tumour releases excessive amounts of catecholamines and commonly arises in the adrenal glands. It presents with headache, palpitations, tremor, and hyperhidrosis, but not with splenomegaly or a palpable abdominal mass.
In summary, a pediatric abdominal mass can be a sign of various conditions, including malignancies. It is important to consider the child’s symptoms and other clinical findings to determine the appropriate diagnosis and management.
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This question is part of the following fields:
- Haematology/Oncology
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Question 15
Correct
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A 45-year-old woman, who is a non-smoker, presents with back pain. A bone scan shows multiple lesions highly suggestive of metastases. Clinical examination is normal apart from unilateral axillary lymphadenopathy. Excision biopsy of an affected lymph node shows adenocarcinoma. Which of the following investigations should be prioritised to find the site of the primary?
Your Answer: Mammography
Explanation:When a patient presents with metastatic bone disease from an unknown primary, it is important to identify the primary source in order to guide treatment and determine prognosis. Tumours that commonly metastasize to bone include those of the lungs, prostate, breast, kidney, and thyroid.
In cases where the patient has unilateral axillary lymphadenopathy, metastatic breast carcinoma is highly likely. Other potential causes of unilateral axillary lymphadenopathy include lymphoma, primary malignancy, melanoma, or metastases from non-breast primary malignancy.
While there are various investigations that can be performed, mammography should be the first examination of choice. If the mammogram is negative, other investigations may be pursued to identify alternative occult sites.
It is important to note that identifying the primary source is useful even in cases of metastatic disease, as it can guide treatment and provide insight into prognosis. Therefore, mammography plays a crucial role in the diagnosis of metastatic breast cancer.
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This question is part of the following fields:
- Haematology/Oncology
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Question 16
Incorrect
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A 25-year-old woman comes to the clinic complaining of fatigue. Upon conducting blood tests, the following results are obtained:
- Hemoglobin (Hb): 10.4 g/dl
- Platelets (Plt): 278 * 109/l
- White blood cell count (WCC): 6.3 * 109/l
- Mean corpuscular volume (MCV): 65 fl
- Hemoglobin A2 (HbA2): 4.5% (< 3%)
What is the most probable diagnosis?Your Answer: Hereditary spherocytosis
Correct Answer: Beta-thalassaemia trait
Explanation:When a female presents with microcytic anaemia, it is important to consider potential causes such as gastrointestinal bleeding or menorrhagia. However, if there is no history of these conditions and the microcytosis is not proportional to the haemoglobin level, beta-thalassaemia trait should be considered as a possible diagnosis, especially if HbA2 levels are elevated.
Understanding Beta-Thalassaemia Trait
Beta-thalassaemia trait is a genetic disorder that affects the production rate of beta chains. It is an autosomal recessive condition that results in a mild hypochromic, microcytic anaemia. This condition is usually asymptomatic, meaning that it does not show any noticeable symptoms. However, it is important to note that microcytosis is characteristically disproportionate to the anaemia. Additionally, individuals with beta-thalassaemia trait have raised levels of HbA2, which is typically greater than 3.5%. Understanding beta-thalassaemia trait is crucial for individuals who may be carriers of this genetic disorder.
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This question is part of the following fields:
- Haematology/Oncology
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Question 17
Correct
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A 63-year-old woman with metastatic breast cancer complains of worsening dyspnea. She is undergoing chemotherapy treatment. During the physical examination, a third heart sound is heard and the apex beat is displaced to the anterior axillary line in the 6th intercostal space. Which chemotherapy drug is most likely causing these symptoms?
Your Answer: Doxorubicin
Explanation:Cardiomyopathy can be caused by anthracyclines such as doxorubicin.
Cytotoxic agents are drugs that are used to kill cancer cells. There are several types of cytotoxic agents, each with their own mechanism of action and adverse effects. Alkylating agents, such as cyclophosphamide, work by causing cross-linking in DNA. However, they can also cause haemorrhagic cystitis, myelosuppression, and transitional cell carcinoma. Cytotoxic antibiotics, like bleomycin, degrade preformed DNA and can lead to lung fibrosis. Anthracyclines, such as doxorubicin, stabilize the DNA-topoisomerase II complex and inhibit DNA and RNA synthesis, but can also cause cardiomyopathy. Antimetabolites, like methotrexate, inhibit dihydrofolate reductase and thymidylate synthesis, leading to myelosuppression, mucositis, liver fibrosis, and lung fibrosis. Fluorouracil (5-FU) is a pyrimidine analogue that induces cell cycle arrest and apoptosis by blocking thymidylate synthase, but can also cause myelosuppression, mucositis, and dermatitis. Cytarabine is a pyrimidine antagonist that interferes with DNA synthesis specifically at the S-phase of the cell cycle and inhibits DNA polymerase, but can also cause myelosuppression and ataxia. Drugs that act on microtubules, like vincristine and vinblastine, inhibit the formation of microtubules and can cause peripheral neuropathy, paralytic ileus, and myelosuppression. Docetaxel prevents microtubule depolymerisation and disassembly, decreasing free tubulin, but can also cause neutropaenia. Topoisomerase inhibitors, like irinotecan, inhibit topoisomerase I which prevents relaxation of supercoiled DNA, but can also cause myelosuppression. Other cytotoxic drugs, such as cisplatin, cause cross-linking in DNA and can lead to ototoxicity, peripheral neuropathy, and hypomagnesaemia. Hydroxyurea (hydroxycarbamide) inhibits ribonucleotide reductase, decreasing DNA synthesis, but can also cause myelosuppression.
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This question is part of the following fields:
- Haematology/Oncology
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Question 18
Correct
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A 25-year-old man presents to his doctor with a complaint of a lump in his testicle. During the examination, the lump disappears when he lies down. The scrotum shows dilated veins, while the abdominal examination is unremarkable. He expresses concern about his inability to conceive despite trying. What is the most probable diagnosis?
Your Answer: Varicocoele
Explanation:Common Causes of Testicular Lumps: Varicocele, Epididymitis, Hydrocele, Inguinal Hernia, and Testicular Teratoma
Testicular lumps can be a cause for concern and require medical attention. Here are some common causes of testicular lumps:
Varicocele: This is a painless swelling of the testes on the left side, which can be described as a bag of worms within the spermatic cord above the testis. It tends to occur in those aged 12+ years and is rare in pre-pubertal boys. Varicoceles are associated with male infertility, and a quarter of men with abnormal semen parameters will have a varicocele.
Epididymitis: This is inflammation of the testis and epididymis caused by infection such as chlamydia infection, gonorrhoea, mumps, bacterial coliforms or syphilis. It may present as acute testicular pain, swelling and tenderness, and associated symptoms include urethritis, increased urinary frequency and dysuria. Systemic symptoms may include fever and rigors.
Hydrocele: This is a non-tender, painless, cystic scrotal swelling below and anterior to the testes. It will normally transilluminate and does not tend to reduce on lying flat. Although hydroceles can fluctuate in size and are affected by movement, they are not usually a cause for concern.
Inguinal hernia: This is a condition where a part of the intestine or other tissue protrudes through a weak spot in the abdominal muscles, causing a lump in the groin or scrotum. If reducible, the lump may disappear on lying flat.
Testicular teratoma: This is a solid testicular lump within the testis, which is suggestive of a tumour. Testicular cancers can be subdivided into seminomas, teratomas and yolk-sac tumours. Over 95% of testicular cancers arise from the germ cells. Teratomas typically present at age 20–30 years, whereas seminomas typically present at age 35–45 years.
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This question is part of the following fields:
- Haematology/Oncology
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Question 19
Correct
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A 65-year-old woman is being evaluated one week after being diagnosed with a deep vein thrombosis in her left leg. She has been administered low-molecular weight heparin for five days and has now been prescribed warfarin. The patient has a medical history of osteoporosis, breast cancer, type 2 diabetes, and depression. Which medication she is currently taking is most likely to have contributed to her increased risk of developing a deep vein thrombosis?
Your Answer: Tamoxifen
Explanation:Prior to initiating tamoxifen treatment, women should be informed about the elevated risk of VTE, which is one of the most significant side effects of the medication. Additionally, tamoxifen has been linked to an increased risk of endometrial cancer.
Venous Thromboembolism: Common Risk Factors
Venous thromboembolism (VTE) is a condition where blood clots form in the veins, which can lead to serious complications such as pulmonary embolism (PE). While there are many factors that can increase the risk of VTE, some are more common than others. These include malignancy, pregnancy, and the period following an operation. Other general risk factors include advancing age, obesity, family history of VTE, immobility, hospitalization, anaesthesia, and the use of central venous catheters. Underlying conditions such as heart failure, thrombophilia, and antiphospholipid syndrome can also increase the risk of VTE. Additionally, certain medications like the combined oral contraceptive pill, hormone replacement therapy, raloxifene, tamoxifen, and antipsychotics have been shown to be risk factors.
It is important to note that while these factors can increase the risk of VTE, around 40% of patients diagnosed with a PE have no major risk factors.
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This question is part of the following fields:
- Haematology/Oncology
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Question 20
Correct
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A 78-year-old man with known metastatic prostate cancer presents to his General Practitioner with generalised pain. He states that he has always had aches and pains from old age, but that this is different: he can feel the pain particularly in his back at night.
What is the most likely site to be involved in bone metastasis in this patient?Your Answer: Spine
Explanation:Common Sites of Metastatic Spread in Bone
Metastatic spread to the bone is a common occurrence in many types of cancer. The following are some of the most common sites of metastases in bone:
Spine: The spine is the most common site for bony metastases, with spread often found from a range of solid and haematological cancers, as well as infectious diseases such as tuberculosis.
Ribs: While breast cancer is known to spread to the ribs, this is not the case for many other cancers.
Pelvis: The pelvis is a prevalent site of metastatic spread occurring mostly from the prostate, breast, kidney, lung, and thyroid cancer.
Skull: Skull metastases are seen in 15-25% of all cancer patients and tend to include those from the breast, lungs, prostate, and thyroid, as well as melanoma.
Long bones: Localised bone pain is a red flag for metastatic spread to any of the long bones such as the femur and humerus. Breast, prostate, renal, thyroid, and lung cancers frequently metastasize to these areas.
Overall, understanding the common sites of metastatic spread in bone can help with early detection and treatment of cancer.
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This question is part of the following fields:
- Haematology/Oncology
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Question 21
Correct
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A 70-year-old man with metastatic prostate cancer is experiencing increased pain and vomiting while taking morphine sulphate 60mg bd. It has been decided to switch to subcutaneous administration. What is the recommended 24-hour dose of morphine for continuous subcutaneous infusion?
Your Answer: 60mg
Explanation:In this scenario, the BNF suggests administering half of the oral dose of morphine when using the parenteral route (subcutaneous, intramuscular, or intravenous). If the patient is no longer able to swallow, a continuous subcutaneous infusion of morphine is typically given.
Palliative care prescribing for pain is guided by NICE and SIGN guidelines. NICE recommends starting treatment with regular oral modified-release or immediate-release morphine, with immediate-release morphine for breakthrough pain. Laxatives should be prescribed for all patients initiating strong opioids, and antiemetics should be offered if nausea persists. Drowsiness is usually transient, but if it persists, the dose should be adjusted. SIGN advises that the breakthrough dose of morphine is one-sixth the daily dose, and all patients receiving opioids should be prescribed a laxative. Opioids should be used with caution in patients with chronic kidney disease, and oxycodone is preferred to morphine in patients with mild-moderate renal impairment. Metastatic bone pain may respond to strong opioids, bisphosphonates, or radiotherapy, and all patients should be considered for referral to a clinical oncologist for further treatment. When increasing the dose of opioids, the next dose should be increased by 30-50%. Conversion factors between opioids are also provided. Opioid side-effects are usually transient, such as nausea and drowsiness, but constipation can persist. In addition to strong opioids, bisphosphonates, and radiotherapy, denosumab may be used to treat metastatic bone pain.
Overall, the guidelines recommend starting with regular oral morphine and adjusting the dose as needed. Laxatives should be prescribed to prevent constipation, and antiemetics may be needed for nausea. Opioids should be used with caution in patients with chronic kidney disease, and oxycodone is preferred in patients with mild-moderate renal impairment. Metastatic bone pain may respond to strong opioids, bisphosphonates, or radiotherapy, and referral to a clinical oncologist should be considered. Conversion factors between opioids are provided, and the next dose should be increased by 30-50% when adjusting the dose. Opioid side-effects are usually transient, but constipation can persist. Denosumab may also be used to treat metastatic bone pain.
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This question is part of the following fields:
- Haematology/Oncology
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Question 22
Correct
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A 72-year-old patient with chronic lymphocytic leukaemia presents to the emergency department with haematemesis. Urgent blood tests are taken and blood products ordered from the laboratory.
A full blood count shows:
Hb 76 g/L Male: (135-180) Female: (115 - 160)
Platelets 26 * 109/L (150 - 400)
WBC 21.8 * 109/L (4.0 - 11.0)
Which blood product carries the highest risk for this immunocompromised patient?Your Answer: Platelets
Explanation:Platelet transfusions have the highest risk of bacterial contamination due to their short shelf life and refrigeration. This patient requires both red blood cells and platelets, but caution should be taken with platelet transfusions due to the risk of contamination. Cryoprecipitate and plasma have lower contamination risks and can be stored for longer periods. Packed red cells can also be used and have a longer shelf life.
Platelet Transfusion Guidelines for Active Bleeding and Pre-Invasive Procedures
Platelet transfusions are recommended for patients with thrombocytopenia and clinically significant bleeding, such as haematemesis, melaena, or prolonged epistaxis, with a platelet count of less than 30 x 10 9. For severe bleeding or bleeding at critical sites, such as the CNS, platelet thresholds for transfusion are higher, with a maximum of less than 100 x 10 9. However, it should be noted that platelet transfusions have a higher risk of bacterial contamination compared to other types of blood products.
For pre-invasive procedures, platelet transfusions are recommended to maintain platelet levels of greater than 50 x 10 9/L for most patients, 50-75 x 10 9/L for those at high risk of bleeding, and greater than 100 x 10 9/L for surgeries at critical sites. However, if there is no active bleeding or planned invasive procedure, a threshold of 10 x 10 9/L is recommended, unless platelet transfusion is contraindicated or there are alternative treatments available for the patient’s condition.
It is important to note that platelet transfusions should not be performed for chronic bone marrow failure, autoimmune thrombocytopenia, heparin-induced thrombocytopenia, or thrombotic thrombocytopenic purpura. These guidelines aim to provide appropriate and safe platelet transfusion practices for patients with thrombocytopenia.
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This question is part of the following fields:
- Haematology/Oncology
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Question 23
Correct
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A 76-year-old male with a history of COPD and metastatic lung cancer is admitted with worsening shortness of breath. After consulting with family, it is determined that active treatment, including fluids and antibiotics, will be withdrawn as this admission is likely a terminal event. However, two days later, the patient becomes restless and agitated. What is the best course of action in managing this situation?
Your Answer: Subcutaneous midazolam
Explanation:Palliative Care Prescribing for Agitation and Confusion
When dealing with agitation and confusion in palliative care patients, it is important to identify and treat any underlying causes such as hypercalcaemia, infection, urinary retention, or medication. If these specific treatments fail, medication can be used to manage symptoms. Haloperidol is the first choice for treating agitation and confusion, with chlorpromazine and levomepromazine as alternative options. In the terminal phase of the illness, midazolam is the preferred medication for managing agitation or restlessness. Proper management of these symptoms can greatly improve the quality of life for palliative care patients.
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This question is part of the following fields:
- Haematology/Oncology
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Question 24
Correct
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A 32-year-old man is brought to the emergency department by his physician due to bone pain, weakness, and splenomegaly. He has been experiencing increasing fatigue and weakness while performing his daily tasks over the past few weeks. During the examination, he appears extremely pale and has petechiae on his lower limbs. After a bone marrow sample is taken, he is diagnosed with acute promyelocytic leukemia (APML). What is the most probable finding on his blood film?
Your Answer: Auer rods
Explanation:A finding of Auer rods on a blood film strongly indicates the presence of acute promyelocytic leukemia.
The correct answer is ‘Auer rods’. This patient has been diagnosed with APML, and the most common finding on a blood film associated with this is Auer rods. These are needle-like structures that are large, pink or red stained and can be seen within the cytoplasm of myeloid blast cells.
‘Tear-drop’ poikilocytes are typically found in myelofibrosis, which is characterized by flat, elongated red blood cells that resemble a tear-drop in shape. This occurs due to the squeezing of cells through fibrotic tissue in bone marrow in myelofibrotic disorders.
Smear cells are usually seen in chronic lymphocytic leukemia (CLL), which are remnants of cells that lack identifiable plasma membrane or nuclear structure.
Spherocytes are generally found in hereditary spherocytosis or autoimmune hemolytic anemia, which are red blood cells that are sphere-shaped and more fragile than normal red blood cells due to abnormalities in the red cell membrane.
Acute myeloid leukaemia is a common form of acute leukaemia in adults that may occur as a primary disease or following a myeloproliferative disorder. Symptoms are related to bone marrow failure and include anaemia, neutropenia, thrombocytopenia, splenomegaly, and bone pain. Poor prognostic features include age over 60, >20% blasts after first course of chemo, and deletions of chromosome 5 or 7. Acute promyelocytic leukaemia M3 is associated with t(15;17) and has a good prognosis. The French-American-British classification system includes seven subtypes.
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This question is part of the following fields:
- Haematology/Oncology
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Question 25
Correct
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A 72-year-old man presents to the Nephrology Clinic with an estimated glomerular filtration rate (eGFR) of 3 ml/min/1.73 m2. He is already undergoing renal replacement therapy. He also presents with worsening anaemia.
What is the most likely diagnosis?Your Answer: Erythropoietin deficiency
Explanation:Causes of Anaemia in End-Stage Renal Failure Patients
Anaemia is a common complication in patients with end-stage renal failure, primarily due to a decrease in the production of erythropoietin by the kidneys. Other causes of anaemia can include folate and vitamin B12 deficiency, uraemic inhibitors, and reduced half-life of circulating blood cells. The prevalence of anaemia in patients with chronic kidney disease (CKD) increases as eGFR levels decrease, with a prevalence of 12% in CKD patients. Folate deficiency and iron deficiency can also cause anaemia, but in this case, the anaemia is more likely related to poor kidney function. Deficiencies in granulocyte colony-stimulating factor and pyridoxine are less likely causes of anaemia in end-stage renal failure patients.
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This question is part of the following fields:
- Haematology/Oncology
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Question 26
Correct
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A 50-year-old woman comes to her GP with bloody discharge from her left nipple. She is extremely worried as she has discovered a small lump on the same breast while examining it after noticing the discharge. She has no medical history and does not take any regular medication. She mentions that her sister had breast cancer a few years ago. She denies any injury to the area. She has never given birth and still has regular periods. What is the probable diagnosis?
Your Answer: Duct papilloma
Explanation:The presence of blood-stained discharge and a small lumpy mass in this patient suggests that they may have duct papilloma. This condition typically affects middle-aged women and develops in the lactiferous ducts beneath the nipple, causing a lumpy mass and bloody discharge. While fat necrosis can also occur in women with large breasts, it is less likely in this case as the patient has not reported any trauma. Fibroadenoma, on the other hand, is not associated with bloody nipple discharge and is typically found in younger women as a firm, non-tender mass. Fibroadenosis, which causes painful and lumpy breasts, is most commonly seen in middle-aged women and may worsen before menstruation.
Breast Disorders: Common Features and Characteristics
Breast disorders are a common occurrence among women of all ages. The most common breast disorders include fibroadenoma, fibroadenosis, breast cancer, Paget’s disease of the breast, mammary duct ectasia, duct papilloma, fat necrosis, and breast abscess. Fibroadenoma is a non-tender, highly mobile lump that is common in women under the age of 30. Fibroadenosis, on the other hand, is characterized by lumpy breasts that may be painful, especially before menstruation. Breast cancer is a hard, irregular lump that may be accompanied by nipple inversion or skin tethering. Paget’s disease of the breast is associated with a reddening and thickening of the nipple/areola, while mammary duct ectasia is characterized by dilatation of the large breast ducts, which may cause a tender lump around the areola and a green nipple discharge. Duct papilloma is characterized by local areas of epithelial proliferation in large mammary ducts, while fat necrosis is more common in obese women with large breasts and may mimic breast cancer. Breast abscess, on the other hand, is more common in lactating women and is characterized by a red, hot, and tender swelling. Lipomas and sebaceous cysts may also develop around the breast tissue.
Common Features and Characteristics of Breast Disorders
Breast disorders are a common occurrence among women of all ages. The most common breast disorders include fibroadenoma, fibroadenosis, breast cancer, Paget’s disease of the breast, mammary duct ectasia, duct papilloma, fat necrosis, and breast abscess. Each of these disorders has its own unique features and characteristics that can help identify them. Understanding these features and characteristics can help women identify potential breast disorders and seek appropriate medical attention. It is important to note that while some breast disorders may be benign, others may be malignant or premalignant, and further investigation is always warranted. Regular breast exams and mammograms can also help detect breast disorders early, increasing the chances of successful treatment.
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This question is part of the following fields:
- Haematology/Oncology
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Question 27
Incorrect
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An 80-year-old man has been admitted to the geriatric ward for the past 2 weeks. He has recently been diagnosed with metastatic lung cancer. During the morning ward round, he expresses dissatisfaction with his pain management. He is currently taking oral morphine sulphate 20 mg four times a day, codeine 30mg four times a day, and regular ibuprofen. What is the appropriate dose of oral morphine for breakthrough pain in this patient?
Your Answer: Morphine 20mg
Correct Answer: Morphine 15mg
Explanation:To calculate the breakthrough dose, we need to first convert oral codeine to oral morphine by dividing by 10. For example, 10mg of oral codeine is equivalent to 1mg of oral morphine.
If a person takes 30mg of oral codeine four times a day, this equals 12mg of oral morphine. If they also take 20mg of oral morphine four times a day, the total daily dose of morphine is 92mg (12mg + 80 mg).
To determine the breakthrough dose, we divide the total daily dose of morphine by 6. In this case, the breakthrough dose would be 15mg of morphine.
Palliative care prescribing for pain is guided by NICE and SIGN guidelines. NICE recommends starting treatment with regular oral modified-release or immediate-release morphine, with immediate-release morphine for breakthrough pain. Laxatives should be prescribed for all patients initiating strong opioids, and antiemetics should be offered if nausea persists. Drowsiness is usually transient, but if it persists, the dose should be adjusted. SIGN advises that the breakthrough dose of morphine is one-sixth the daily dose, and all patients receiving opioids should be prescribed a laxative. Opioids should be used with caution in patients with chronic kidney disease, and oxycodone is preferred to morphine in patients with mild-moderate renal impairment. Metastatic bone pain may respond to strong opioids, bisphosphonates, or radiotherapy, and all patients should be considered for referral to a clinical oncologist for further treatment. When increasing the dose of opioids, the next dose should be increased by 30-50%. Conversion factors between opioids are also provided. Opioid side-effects are usually transient, such as nausea and drowsiness, but constipation can persist. In addition to strong opioids, bisphosphonates, and radiotherapy, denosumab may be used to treat metastatic bone pain.
Overall, the guidelines recommend starting with regular oral morphine and adjusting the dose as needed. Laxatives should be prescribed to prevent constipation, and antiemetics may be needed for nausea. Opioids should be used with caution in patients with chronic kidney disease, and oxycodone is preferred in patients with mild-moderate renal impairment. Metastatic bone pain may respond to strong opioids, bisphosphonates, or radiotherapy, and referral to a clinical oncologist should be considered. Conversion factors between opioids are provided, and the next dose should be increased by 30-50% when adjusting the dose. Opioid side-effects are usually transient, but constipation can persist. Denosumab may also be used to treat metastatic bone pain.
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This question is part of the following fields:
- Haematology/Oncology
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Question 28
Correct
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A 27-year-old man with a medical history of sickle cell disease presents with intense pain in his left hip. He mentions having received antibiotics from his general practitioner for a chest infection. How would you categorize this sickle cell crisis?
Your Answer: Thrombotic crises
Explanation:Sickle cell patients may experience thrombotic crises due to factors such as infection, dehydration, or deoxygenation. In this case, the patient’s severe pain and recent infection suggest a thrombotic crisis. Other types of crises, such as sequestration crises that present with acute chest syndrome, aplastic crises caused by parvovirus infection, or haemolytic crises with increased haemolysis, may have different symptoms. A thyrotoxic crisis would not be related to sickle cell disease.
Sickle cell anaemia is a condition that involves periods of good health with intermittent crises. There are several types of crises that can occur, including thrombotic or painful crises, sequestration, acute chest syndrome, aplastic, and haemolytic. Thrombotic crises, also known as painful crises or vaso-occlusive crises, are triggered by factors such as infection, dehydration, and deoxygenation. These crises are diagnosed clinically and can result in infarcts in various organs, including the bones, lungs, spleen, and brain.
Sequestration crises occur when sickling occurs within organs such as the spleen or lungs, leading to pooling of blood and worsening of anaemia. This type of crisis is associated with an increased reticulocyte count. Acute chest syndrome is caused by vaso-occlusion within the pulmonary microvasculature, resulting in infarction in the lung parenchyma. Symptoms include dyspnoea, chest pain, pulmonary infiltrates on chest x-ray, and low pO2. Management involves pain relief, respiratory support, antibiotics, and transfusion.
Aplastic crises are caused by infection with parvovirus and result in a sudden fall in haemoglobin. Bone marrow suppression leads to a reduced reticulocyte count. Haemolytic crises are rare and involve a fall in haemoglobin due to an increased rate of haemolysis. It is important to recognise and manage these crises promptly, as they can lead to serious complications and even death.
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This question is part of the following fields:
- Haematology/Oncology
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Question 29
Correct
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A 45-year-old woman is referred by her general practitioner due to complaints of headache, fatigue and weakness. Recently, she had a prolonged menstrual bleeding that only stopped after the application of compression for a long time. She also suffered from a urinary tract infection the previous month. She has no family history of a bleeding disorder.
On examination, she has pallor, hepatosplenomegaly and lymphadenopathy. Investigations reveal that she has a low haemoglobin level, a low white blood cell count and a low platelet count; numerous blast cells are visible on peripheral blood film. Bone marrow biopsy reveals 30% of blast cells. The blood film is shown below.
Which one of the following is the most likely diagnosis?Your Answer: Acute myeloid leukaemia (AML)
Explanation:Leukaemia is a type of cancer that affects the blood and bone marrow. There are several types of leukaemia, including acute myeloid leukaemia (AML), acute lymphoblastic leukaemia (ALL), chronic lymphocytic leukaemia (CLL), chronic myeloid leukaemia (CML), and hairy cell leukaemia. AML is characterized by the rapid proliferation of immature myeloid cells called blasts, which can cause anaemia, thrombocytopenia, bleeding problems, and an increased risk of infections. ALL is caused by a clonal proliferation of lymphoid precursors, which can lead to pancytopenia and symptoms such as fever and abdominal pain. CLL is the most common type of leukaemia and is caused by the clonal proliferation of monoclonal B lymphocytes. CML is the rarest form of leukaemia and is caused by a chromosomal translocation involving chromosomes 9 and 22. Hairy cell leukaemia is characterized by the presence of abnormal white cells with hair-like cytoplasmic projections. Treatment for leukaemia typically involves chemotherapy and sometimes a bone marrow transplant, depending on the type of disease present. Prognosis varies depending on the type of leukaemia and the age of the patient.
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This question is part of the following fields:
- Haematology/Oncology
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Question 30
Incorrect
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A 30-year-old man presents with fatigue, joint pain, and abnormal liver function tests. After investigation, he is diagnosed with hereditary hemochromatosis. His wife undergoes genetic testing and is found to not carry the disease. What is the likelihood that their child will develop hemochromatosis?
Your Answer: 25%
Correct Answer: 0%
Explanation:Understanding Haemochromatosis: Symptoms, Causes, and Complications
Haemochromatosis is a genetic disorder that affects iron absorption and metabolism, leading to the accumulation of iron in the body. It is caused by mutations in the HFE gene on both copies of chromosome 6. This disorder is more common in people of European descent, with a prevalence of 1 in 200.
In the early stages of haemochromatosis, symptoms are often non-specific, such as fatigue and joint pain. As the disease progresses, patients may develop bronze skin pigmentation, diabetes mellitus, liver disease, cardiac failure, hypogonadism, and arthritis.
Treatment for haemochromatosis involves regular phlebotomy to remove excess iron from the body. Reversible complications of haemochromatosis include cardiomyopathy, skin pigmentation, liver cirrhosis, diabetes mellitus, hypogonadotrophic hypogonadism, and arthropathy. However, irreversible complications include cirrhosis, which can lead to liver failure and other serious health problems.
In conclusion, haemochromatosis is a genetic disorder that affects iron metabolism and can lead to serious health complications if left untreated. Early diagnosis and treatment can help prevent irreversible damage and improve quality of life for affected individuals.
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This question is part of the following fields:
- Haematology/Oncology
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