hllj/quesmed huggingface dataset:
A 54-year-old male presents to the GP with concerns about hearing his wife shouting at him in the early hours of the morning. He says his wife has been sending him angry messages through the radio for the past 2 days. He has been experiencing low mood for the past 5 weeks since his wife left him and he no longer finds interest in anything. He says he has stopped eating 3 meals a day during this time. During the consultation, his voice is quiet and monotonous, and he appears distressed.

Which of the following is the most likely diagnosis?

Options:
explanation: This is a possible differential and distinguishing schizophrenia from mood disorders with psychosis can be difficult, especially since the negative symptoms of schizophrenia can mimic mood disorders closely. Since this patient's psychosis is occurring in the context of a clear, preceding mood disorder, it makes a diagnosis of schizophrenia less likely. Schizophrenia patients will exhibit psychosis in the absence of an identifiable mood disorder. Additional features, such as thought insertion/withdrawal/broadcasting, made impulses, and somatic passivity, make a diagnosis of schizophrenia more likely, which are absent in this case.
name: Schizophrenia
label: b
answer: no
explanation: Bipolar affective disorder presents with periods of mania and depression. Though this patient reports symptoms of depression, there is no report of episodes of mania, where patients typically experience increased energy, elevated mood, reduced need for sleep, and mood congruent psychotic symptoms including grandiose delusions and hallucinations.
name: Bipolar affective disorder
label: d
answer: no
explanation: Drug induced psychosis is an important differential, and a comprehensive drug history, and potential drug screen, can be useful in patients presenting with first episodes of psychosis. This question does not refer to the consumption of any drugs, and therefore this option is less likely than psychotic depression.
name: Drug-induced psychosis
label: e
answer: no
explanation: It is important to rule out organic conditions in patients presenting with mental health disturbance, and space occupying lesions can be associated with psychosis. However, the patient does not have other clinical features of a tumour, such as headaches, weight loss, or neurological disturbance. There is also a life event that has triggered his symptoms in the form of his wife leaving him. As such, an organic cause is unlikely.
name: Cerebral tumour
label: c
answer: no
explanation: This patient has had a depressive episode lasting more than two weeks, as indicated by the presence of low mood, anhedonia, and loss of appetite. He is also experiencing psychotic symptoms (auditory hallucinations and delusions of reference.) This is termed psychotic depression because he has a major depressive disorder with symptoms of mood congruent psychotic symptoms.
name: Psychotic depression
label: a
answer: yes

Correct answer: a
A 17-year-old female presents to the psychiatric intensive care unit after being brought in to hospital by her friend. Her friend was concerned as she repeatedly said another person was controlling her thoughts and everyone around her was able to hear what she was thinking. Before arriving at the hospital, she said that she saw the traffic light turn green so she knew her friend was going to murder her. Her friend says that she had a similar episode a few years ago.  

Which of the following is the most likely diagnosis?

Options:
explanation: Schizoaffective disorders are characterised by schizophrenia with episodes of mood disturbance, such as depression or mania. This patient does not display any mood disturbance.
name: Schizoaffective disorder
label: b
answer: no
explanation: Bipolar affective disorder presents with periods of mania and depression. There are no symptoms of depression in this case, and no reported episodes of mania, where patients typically experience increased energy, elevated mood, reduced need for sleep, and mood congruent psychotic symptoms including grandiose delusions.
name: Bipolar affective disorder
label: c
answer: no
explanation: Borderline (or emotionally unstable) personality disorder presents with recurrent episodes of self harm, rapid fluctuations of mood, chronic feelings of low mood and loneliness, and unstable persona relationships. This patient does not display these clinical features.
name: Borderline personality disorder
label: d
answer: no
explanation: This is the correct answer because this patient has classic first rank symptoms of Schizophrenia. These include thought broadcasting, thought insertion, and delusional perceptions. These are known as positive symptoms. Risk factors for developing schizophrenia include heavy cannabis use, poor maternal health, and traumatic childhood events.
name: Schizophrenia
label: a
answer: yes
explanation: Schizotypal personality disorder is characterised by eccentric changes in behaviour and thinking which causes difficulty with relationships and social interactions. Patients present with unusual beliefs, inappropriate emotional responses, paranoia and social anxiety.
name: Schizotypal personality disorder
label: e
answer: no

Correct answer: a


Learning point: First-rank symptoms of schizophrenia include auditory hallucinations, thought insertion, thought withdrawal, thought broadcasting, delusions of control, delusions of reference, and perceptual disturbances, which are considered highly characteristic of the disorder
An 11-year-old boy presents to the GP with his mother with several nosebleeds and excessive bleeding from his gums after visiting the dentist. He says his 8-year-old sister does not have any of these symptoms, but his maternal grandfather used to have regular hospital appointments for an injection. His blood tests show a prolonged APTT.

Given the most likely diagnosis, which of the following is the most likely pattern of inheritance?

Options:
explanation: This patient has haemophilia. The clinical presentation of nosebleeds and excessive bleeding alongside family history suggests an inherited bleeding disorder. His maternal grandfather would have been treated with clotting factors. Males only carry one X chromosome which contains the mutation in the gene. This means that they pass on their X chromosome to their daughters who become carriers, but do not present with the disease (or may have very mild manifestations) due to the inheritance being x-linked recessive. Carrier females can pass the affected X chromosome to their sons, which has happened in this case.
name: X-linked recessive
label: a
answer: yes
explanation: This is incorrect because haemophilia is not an autosomal recessive condition. In an autosomal recessive condition, disease occurs when a child inherits one mutated copy of a gene from both parents. There is no suggestion to state that this patient's father is a carrier. His sister is unaffected which suggests that it is related to the inheritance of the X chromosome from his mother.
name: Autosomal recessive
label: c
answer: no
explanation: This is incorrect because haemophilia is not an autosomal dominant condition. In an autosomal dominant condition, a single copy of the mutated gene is enough to cause disease. This patient's mother is a carrier but she is unaffected which suggests that this is not autosomal dominant. You would expect any family member who inherits the mutated gene to have the disease.
name: Autosomal dominant
label: d
answer: no
explanation: This is incorrect because haemophilia is not inherited through an X-linked dominant pattern. In an X-linked dominant condition, one copy of the mutated gene is enough to cause disease in males and females. As the patient's mother is a carrier and unaffected, this suggests that the condition is inherited through an X-linked recessive pattern instead.
name: X-linked dominant
label: b
answer: no
explanation: This is incorrect because haemophilia is not inherited via mitochondrial inheritance. This is a rare pattern of maternal inheritance due to mutated genes within the mitochondrial DNA within oocytes, which is subsequently passed on to the developing embryo (and child, therefore.) Spermatozoa have mitochondria but their mitochondria are degraded shortly after fertilisation, so genetic defects within the spermatozoa's mitochondrial DNA cannot be transmitted to the foetus.
name: Mitochondrial
label: e
answer: no

Correct answer: a


Learning point: Haemophilia is an X-linked recessive disorder, primarily affecting males, leading to prolonged bleeding due to deficient clotting factors.
A study looking at risk factors associated with bladder cancer disease recruit 500 patients diagnosed with transitional cell carcinoma of the bladder. The study found that 250 of the patients were exposed to aniline dyes during their earlier stages of their lives, whilst 250 were not, and concluded that aniline dyes may be a risk factor associated with the development of transitional cell carcinoma.

Which of the following study design is described in the question stem?

Options:
explanation: A retrospective cohort study begins with a cohort of patients who have already achieved the outcome that is being evaluated, in this case bladder cancer. The study investigators then look back in time i.e. retrospectively, to identify whether the cohort were exposed or not exposed to the given risk factor, in this case aniline dyes. The exposure has already occurred. This is a type of observational study.
name: Retrospective cohort study
label: a
answer: yes
explanation: Case control studies analyse those with the disease (cases) versus those without (controls) and look retrospectively back in time to see if exposure occurred to a risk factor. This is not a case control study therefore; if this were, the study design would be as follows: the history of individuals with bladder cancer and individuals without bladder cancer are reviewed to see if they had exposure to aniline dyes in the past or not.
name: Case-control study
label: d
answer: no
explanation: A cross-sectional study is when a snap-shot is taken of a population at a specific point in time to identify the prevalence or frequency of a certain risk factor or disease. This is not a cross sectional study. This is not a cross-sectional study, since it is not giving us an idea of the frequency or prevalence of either aniline dye exposure or bladder cancer within the population.
name: Cross-sectional study
label: b
answer: no
explanation: A prospective cohort study starts with two groups of individuals who are either exposed or not exposed to a certain risk factor, then followed up in time to see if an outcome is obtained. This is not a prospective cohort study, therefore. If it were, the study design would be as follows: individuals who have been exposed to aniline dyes versus not exposed are followed up over a certain period of time to see if they develop bladder cancer.
name: Prospective cohort study
label: c
answer: no
explanation: This is incorrect because an experimental study is a type of interventional study. This involves assessing the effect of an intervention. The researcher is able to control the variables and interact with participants which is different to an observational study. A common experimental study design is that of a randomised controlled trial.
name: Experimental study
label: e
answer: no

Correct answer: a


Learning point: A retrospective cohort study is a type of observational research that looks back at existing data to compare outcomes between groups that were exposed to a particular factor and those that were not.
A 33-year-old male presents to the GP with low mood and low energy for the past 4 weeks. He has been trying to follow psychological self-help at home, but this has not improved his symptoms. His appetite is now increasingly poor and he is struggling with his sleep. This is affecting his performance at work. The GP commences him on fluoxetine.

Which of the following is the most appropriate to advise this patient regarding his anti-depressant medication?

Options:
explanation: This is incorrect because fluoxetine should be tapered down slowly on discontinuation. This avoids unwanted side effects caused by withdrawal of SSRIs, including restlessness, sweating, anxiety, insomnia, and unsteadiness.
name: Fluoxetine should be discontinued immediately once the treatment course is completed
label: e
answer: no
explanation: Symptoms may start improving after 2-4 weeks (SSRIs do not work instantly), but the medication must not be stopped once the symptoms improve due to risk of relapse. They must be continued for 6 months, and then reviewed at this stage.
name: Take fluoxetine for 6 weeks
label: c
answer: no
explanation: Patients may see an improvement in their mood earlier than 6 months from remission, but it is important they are advised they do not discontinue their SSRI medication before the 6 month period is over, due to risk of relapse. Guidelines therefore state they must be taken for a minimum of 6 months. SSRIs should never be stopped suddenly, but gradually tapered, to reduce the risk of withdrawal.
name: Fluoxetine may be weaned 6 months after remission if he has improved clinically
label: a
answer: yes
explanation: Symptoms may start improving after 2-4 weeks (SSRIs do not work instantly), but the medication must not be stopped once the symptoms improve due to risk of relapse. They must be continued for at least 6 months, and then reviewed at this stage. Furthermore, SSRI medication must never be stopped suddenly due to risk of withdrawal symptoms, such as restlessness, sweating, anxiety, insomnia, and unsteadiness.
name: Take fluoxetine once daily until his depressive symptoms improve
label: b
answer: no
explanation: If a dose of fluoxetine is missed at the usual time, it should be taken as soon as the patient remembers. It is important to advise patients that they should not be taking 2 doses together unless the dose has been increased by their GP. If it is nearly time to take the next dose, he should leave out the dose he has forgotten and take the next scheduled dose as normal. This option says he must always respond by taking the next dose as scheduled and skip the missed dose; this is not true, since this only needs to be done if the next dose is due soon. Otherwise, the missed dose should be taken.
name: If he misses a dose of fluoxetine, take the missing dose with the dose due 
label: d
answer: no

Correct answer: a
A 34-year-old woman presents to A&E with a three day history of fevers and joint pains. She denies any unwell contacts. She has a history of intravenous drug use but no other past medical history. Her vital signs are: HR 101bpm, RR 17 breaths per minute, O2 saturations of 98% on air, BP 157/61mmHg, and temperature 39.5. On examination, there is an early diastolic murmur on auscultation of the aortic area.

Which of the following clinical signs is specific to his diagnosis?

Options:
explanation: A displaced apex beat can occur in a variety of conditions that result in left ventricular dilation, including a volume overloaded left ventricle as in mitral or aortic regurgitation, chronic right-left shunt, eventual decompensation in concentric hypertrophy secondary to pressure overload, or dilated cardiomyopathy. This patient may develop a displaced apex beat, but it is not specific.
name: Displaced apex beat
label: e
answer: no
explanation: This patient has aortic regurgitation caused by infective endocarditis, as indicated by the presence of fever and a new murmur. Her risk factors include current intravenous drug use. De Musset's sign is a rhythmic head nodding or bobbing in-sync with each heart beat, which is associated with aortic regurgitation. She also has a wide pulse pressure, which is also associated with aortic regurgitation. This patient should have an urgent echocardiogram.
name: De Musset's sign
label: a
answer: yes
explanation: A malar flush is a purple-red discolouration overlying the malar eminence, and in a cardiac examination, is associated with mitral stenosis and pulmonary hypertension secondary to this. Mitral stenosis presents as a mid-diastolic murmur over the mitral area, and is not usually caused by infective endocarditis, but rheumatic fever. Other features include a parasternal heave due to right ventricular hypertrophy and a loud second heart sound. This patient has no past medical history, and has clinical features of aortic regurgitation.
name: Malar flush
label: b
answer: no
explanation: Peripheral oedema is a non-specific finding for many conditions including heart failure, liver cirrhosis and nephrotic syndrome. Infective endocarditis may cause acute valvular heart failure and subsequently peripheral oedema, but it is not specific finding, which is what the question is asking.
name: Peripheral oedema
label: c
answer: no
explanation: Rheumatic fever is caused by group A beta-haemolytic streptococci (S. pyogenes), and one of the major Jones diagnostic criteria is that of painless subcutaneous nodules.
Rheumatic fever can cause permanent damage to heart valves (rheumatic heart disease); it is rare in the developed world due to effective antimicrobial treatment of beta-haemolytic group A streptococcal infections. This patient is presenting acutely with a new murmur and fever, and as such infective endocarditis is the most likely diagnosis.
name: Subcutaneous painless nodules
label: d
answer: no

Correct answer: a


Learning point: De Musset's sign, which is a rhythmic bobbing of the head, suggests severe aortic regurgitation.
A 27-year-old pregnant female presents to the maternity unit for her booking appointment. This is her first pregnancy and she is currently fit and well. She has no significant past medical history and is currently taking folic acid tablets daily. Her height and weight is recorded by the nurse and her body mass index (BMI) is calculated as 32kg/m². Her fasting blood sugar is 5.2 mmol/litre (3.5-5.5 mmol/L).


Which of the following is the next best step in the management of this patient?

Options:
explanation: This is a sensible and potentially useful option, but it is not the best next step in management, since the oral glucose tolerance test at 24-28 weeks will detect cases of gestational diabetes more sensitively than routine glucose monitoring at home.
name: Advise patient to self-monitor their own blood glucose levels at home
label: c
answer: no
explanation: An immediate oral glucose tolerance test at booking is offered in patients with previous gestational diabetes. If this is normal, then it is repeated at 24-28 weeks. This is the patient's first pregnancy and so she has never been diagnosed with gestational diabetes in the past.
name: Offer an oral glucose tolerance test immediately
label: b
answer: no
explanation: This patient is at risk for developing gestational diabetes as she has a BMI greater than 30kg/m². All patients with a risk factor should be offered an 2 hour 75g OGTT at 24-28 weeks. As per NICE guidelines, other risk factors include a previous macrosomic baby weighing 4.5kg or above, previous gestational diabetes, a first-degree relative with diabetes, or minority ethnic family origin with a high prevalence of diabetes. It is important to diagnose gestational diabetes early in order to get good control, to reduce risk of foetal macrosomia, neonatal hypoglycaemia, and shoulder dystocia. NICE suggests a diagnosis of gestational diabetes can be made if: a fasting blood sugar is 5.6 mmol/litre or above, or a 2-hour plasma glucose level is 7.8 mmol/litre or above
name: Offer an oral glucose tolerance test at 24 weeks
label: a
answer: yes
explanation: Metformin may be used used if gestational diabetes is confirmed, which is not the case at present in this patient.  Lifestyle advice is offered first in patients with gestational diabetes, and if adequate glucose targets are not met within 1-2 weeks, metformin is started. Insulin is the next step or alternative if metformin cannot be used.
name: Start metformin
label: d
answer: no
explanation: This may be a suitable plan if the patient had confirmed gestational diabetes. However, in this case, the diagnosis has yet to be confirmed.
name: Advise patient regarding diet and exercise, and prescribe insulin
label: e
answer: no

Correct answer: a


Learning point: Pregnant women with a BMI over 30kg/m² should be screened for gestational diabetes with an oral glucose tolerance test at 24-28 weeks.
A 51-year-old male presents to the GP with his sister as she has concerns regarding his memory. She says he is getting increasingly forgetful over the past 6 months, with periods of verbal aggression towards her. He is also less interested in socialising. He has a past medical history of Down's syndrome which was diagnose during childhood. On examination, his Mini-mental state examination is 21/30.

Which of the following is the most likely diagnosis?

Options:
explanation: Frontotemporal dementia typically affects patients who are younger than 65 years and causes changes in their behaviour and personality. Memory and visuospatial skills are relatively preserved. This patient has personality change and is young, but frontotemporal dementia is not a feature of Down's syndrome, and Alzheimer's dementia is therefore more likely.
name: Frontotemporal lobe dementia
label: d
answer: no
explanation: Dementia pugilistica is a type of dementia caused by repetitive head injuries. It is also known as chronic traumatic encephalopathy. It is associated with professions where repeated head injury occurs, such as boxing or playing football.  This patient has no history of repeat head injury and this therefore does not represent a likely differential.
name: Dementia Pugilistica
label: e
answer: no
explanation: Depression is an important differential since the loss of sociability may represent anhedonia. However, the verbal aggression and low MMSE are not clinical features of depression and as such, Alzheimer's disease should be considered. In severe depression, a pseudo-dementia type picture may occur, but there are no clinical features here to suggest this patient has a severe depressive illness.
name: Depression
label: b
answer: no
explanation: Delirium is an acute confusional state characterised by  fluctuating consciousness. Delirium has several causes which can be remembered with the mnemonic PINCHME: pain, infection, nutrition, constipation, hydration, medications and the environment. It is important to exclude causes of delirium in patients with acute onset confusion. However, in this patient, the decline has been gradual, over months, as opposed to acute.
name: Delirium
label: c
answer: no
explanation: Patients with Down's syndrome are at a high risk of developing early-onset Alzheimer's disease. This is because they have a greater quantity of amyloid plaques and tau protein within their brain cells at a younger age. Changes in personality and behaviour are especially associated with Alzheimer's disease in the context of Down's syndrome. Note that his MMSE score is less than 27 which indicates there is cognitive decline.
name: Alzheimer's disease
label: a
answer: yes

Correct answer: a


Learning point: Individuals with Down's syndrome have an increased risk of early-onset Alzheimer's disease, often presenting with cognitive decline and behavioural changes.