hllj/quesmed huggingface dataset:
Which of the following describes the most likely set of clinical features in a patient with Kallman’s syndrome?

Options:
explanation: These are features of Kleinfelter’s syndrome, or primary hypogonadism, that is associated with the karyotype 47XXY.
name: Lack of secondary sexual characteristics, infertility, high LH and FSH, gynaecomastia, tall stature
label: b
answer: no
explanation: Kallman’s syndrome is an X-linked recessive disorder thought to be due to the failure of migration of GnRH-secreting cells. It causes hypogonadotropic hypogonadism, manifesting as delayed puberty with normal stature, cryptorchidism and anosmia.
name: Anosmia, delayed puberty, low LH and FSH, low testosterone, cryptorchidism, normal stature
label: a
answer: yes
explanation: These are features of androgen insensitivity syndrome, which is an X-linked recessive condition involving end-organ resistance to testosterone. Genotypically male children with the karyotype 46XY have a female phenotype. The groin swelling is caused by undescended testes.
name: Groin swelling, amenorrhoea, absent pubic and armpit hair, high LH and FSH, high testosterone
label: c
answer: no
explanation: These are characteristic features of Prader-Willi syndrome. This is caused by the deletion of the Prader-Will gene inherited from the individual's father (if the deletion is inherited from the mother, this causes a different disorder, Angelman syndrome).
name: Hypotonia, short stature, infertility, learning difficulties, childhood obesity
label: d
answer: no
explanation: These are characteristic features of Turner’s syndrome. This is a genetic disorder caused by either the deletion of a whole X-chromosome or deletion of its short arm, causing the karyotype 45X.
name: Webbed neck, amenorrhoea, renal and cardiac abnormalities, high FSH and LH, short stature
label: e
answer: no

Correct answer: a
Which of the following statements regarding oogenesis is correct?

Options:
explanation: Following fertilisation, the secondary oocyte splits into two haploid cells of unequal size. The larger cell is the ovum and the smaller cell is the second polar body. These cells are both haploid.
name: The larger cell formed by the secondary oocyte after fertilisation is the ovum
label: a
answer: yes
explanation: The oogonium is a diploid cell produced in utero. It is arrested at prophase I until puberty, where FSH triggers the completion of meiosis I.
name: The oogonium is a diploid cell stuck at metaphase I
label: c
answer: no
explanation: The primary oocyte is diploid and produces two haploid cells of unequal size: the first polar body (smaller cell) and the secondary oocyte (larger cell).
name: Before ovulation, the primary oocyte completes meiosis I, producing two diploid cells of unequal size
label: b
answer: no
explanation: Meiosis I is completed at the start of puberty, following FSH production and secretion. This produces the secondary oocyte, which completes meiosis II after fertilisation.
name: Meiosis II is completed after puberty, following FSH production and secretion
label: e
answer: no
explanation: Meiosis I is completed at the start of puberty, following FSH production and secretion. This produces the secondary oocyte, which is arrested at metaphase II until fertilisation.
name: The secondary oocyte is arrested at metaphase I
label: d
answer: no

Correct answer: a
Which statement regarding the innervation of structures in the perineum is correct?

Options:
explanation: The parasympathetic supply to structures in the perineum comes from the pelvic splanchnic nerves, which arise from spinal levels S2-S4.
name: The parasympathetic supply to structures in the perineum comes from the pelvic splanchnic nerves, which arise from spinal levels L4-S4
label: d
answer: no
explanation: Sensory nerve supply to the labia is from the pudendal nerve, which arises from spinal levels S2-4.
name: Sensory nerve supply to the labia is from spinal levels L2-4
label: e
answer: no
explanation: Sphincters and other voluntary muscles in the perineum are supplied by the pudendal nerve (S2-4).
name: The nerve supply to the anal sphincter is from the pudendal nerve
label: a
answer: yes
explanation: The sensory supply to the scrotum is provided by 4 nerves: the anterior scrotal nerves supply the anterior surface and root of the penis, the posterior scrotal nerves supply the posterior surface, part of the anterolateral surface is supplied by the genitofemoral nerve and perineal branch of the posterior femoral cutaneous nerve supplies part of the inferior surface.
name: The sensory supply to the scrotum is entirely provided by the perineal branch of the posterior femoral cutaneous nerve
label: c
answer: no
explanation: The cremaster muscle surrounds the spermatic cord- it acts to raise the testes if they become too cold. This is supplied by the genitofemoral nerve (L1-2).
name: The cremaster muscle is innervated by the ilioinguinal nerve
label: b
answer: no

Correct answer: a
Which statement correctly describes an aspect of how the human papillomavirus (HPV) can cause cervical cancer?

Options:
explanation: This is the action of oncoprotein E7. E6 inactivates tumour suppressor gene p53 by leading to its proteosomal degradation.
name: The HPV oncoprotein E6 inactivates tumour suppressor gene pRB, allowing transcription of genes which increases the rate of the cell cycle
label: c
answer: no
explanation: 70% of cervical cancer cases are associated with HPV 16 and 18.
name: The majority of cervical cancer cases are associated with HPV 14 and 16
label: b
answer: no
explanation: This is the action of oncoprotein E6. E7 inactivates tumour suppressor gene pRB, allowing transcription of genes which increases the rate of the cell cycle.
name: The HPV oncoprotein E7 inactivates tumour suppressor gene p53 by leading to its proteosomal degradation
label: d
answer: no
explanation: HPV cannot bind to live tissue, it enters the basal cells of stratified squamous epithelium, which are exposed to micro-abrasions. The transcriptional cascade occurs as the host keratinocyte becomes increasingly differentiated in the upper layers.
name: The virus enters the basal cells of stratified squamous epithelium, which are exposed to micro-abrasions
label: a
answer: yes
explanation: HPV is not cytolytic. Newly-created viral particles spread as they are released from the degeneration of desquamating cells.
name: Once it has replicated inside the host cell, HPV causes cell lysis, allowing the release of virus particles and further spread
label: e
answer: no

Correct answer: a
Which statement best describes how p53 affects tumour growth?

Options:
explanation: p53 is a tumour-suppressor gene. It has several mechanisms of action that aim to maintain genomic stability- one of which is initiating apoptosis if DNA damage is irreparable.
name: Initiates apoptosis if there is irreparable DNA damage
label: a
answer: yes
explanation: Shortening of the telomeres of chromosomes happens as cells divide as we age, and is associated with ageing and the development of disease (e.g. cancer). One of p53’s mechanisms to maintain genomic stability is by initiating a senescence response to shortened telomeres.
name: p53 causes the shortening of telomeres, protecting cancer cells from apoptosis
label: d
answer: no
explanation: This is the mode of action of many oncoproteins, which act to promote cell division and tumour growth. p53 is a tumour suppressor gene, which has several mechanisms of action that aim to maintain genomic stability, preventing rapid uncontrollable cell growth.
name: It inactivates tumour suppressor genes by binding to them, allowing rapid uncontrolled cell division
label: c
answer: no
explanation: p53 is a tumour-suppressor gene which acts by several mechanisms to maintain genomic stability. p53 is often mutated or downregulated in tumour cells, which allows them to be highly resistant to cytotoxic drugs.
name: High expression of p53 allows tumours to be highly resistant to cytotoxic drugs
label: e
answer: no
explanation: Pro-apoptotic proteins that interact with mitochondria to trigger apoptosis include BAX and BAK. These are regulated by a complex protein system, including pro-survival BCL2-like proteins.
name: p53 is a pro-apoptotic protein that interacts directly with the mitochondria to trigger apoptosis
label: b
answer: no

Correct answer: a
Which of the following is a feature of Lambert-Eaton myasthenic syndrome?

Options:
explanation: This is a feature of myasthenia gravis, a disorder caused by dysfunctional nicotinic acetylcholine receptors.
name: It is often associated with thymomas or thymic hyperplasia
label: d
answer: no
explanation: Lambert-Eaton syndrome is caused by antibodies directed against presynaptic voltage-gated calcium channels. This means that less acetylcholine can be released at the neuromuscular junction, commonly causing muscular weakness.
name: It is caused by antibodies directed against presynaptic voltage-gated calcium channels in the peripheral nervous system
label: a
answer: yes
explanation: Lambert-Eaton syndrome is commonly associated with small-cell lung cancer. It is occasionally seen alongside breast and ovarian cancers and can occur independently as an autoimmune disorder.
name: It is associated with non-small cell lung cancer
label: e
answer: no
explanation: Extraocular and proximal muscle weakness are features of myasthenia gravis. Lambert-Eaton syndrome causes hyporeflexia and limb girdle weakness, affecting the lower limbs first.
name: Extraocular muscle weakness, resulting in diplopia
label: b
answer: no
explanation: This is a feature of myasthenia gravis. Lambert-Eaton syndrome shows an incremental response to repetitive electrical stimulation on EMG.
name: EMG shows a diminishing response of muscle fibres with repetitive electrical stimulation
label: c
answer: no

Correct answer: a
Which set of findings would most likely point to a diagnosis of chronic myeloid leukaemia?

Options:
explanation: These features are seen in acute promyelocytic leukaemia, a subtype of acute myeloid leukaemia, which has a good prognosis. CML is commonly seen in older patients and features a different genetic hallmark.
name: Disseminated intravascular coagulation, Auer rods, young age, PML/RARa gene fusion
label: c
answer: no
explanation: These are features of myeloma, a neoplastic proliferation of monoclonal plasma cells in the bone marrow.
name: Hypercalcaemia, renal insufficiency, normochromic normocytic anaemia, bone lesions, high free light chains in serum
label: d
answer: no
explanation: The Philadelphia chromosome is a short chromosome 22 containing an abnormal BCR-ABL fusion gene. This is identified by FISH or PCR performed following bone marrow aspiration. The presence of the Philadelphia chromosome is the Gold standard of CML diagnosis and is seen in nearly all cases. Splenomegaly, leucocytosis and severe normochromic normocytic anaemia are also features of CML.
name: Splenomegaly, leucocytosis, severe normochromic normocytic anaemia, presence of Philadelphia chromosome
label: a
answer: yes
explanation: These are features of Hodgkin lymphoma, a malignant proliferation of lymphocytes. The pathological hallmark of Hodgkin lymphoma is the Reed-Sternberg cell, a giant, multinucleate cell.
name: Reed-Sternberg cells, lymphadenopathy, weight loss, splenomegaly
label: e
answer: no
explanation: These are general symptoms often seen in haematological malignancy, but would not point to a diagnosis of CML specifically.
name: Anaemia, splenomegaly, thrombocytopenia, lymphadenopathy, weight loss
label: b
answer: no

Correct answer: a
Which statement best describes the developmental abnormality cryptorchidism?

Options:
explanation: Cryptorchidism is the failure of one or both testes to descend into the scrotum. This is the most common birth defect of the male genital tract and can be classified according to the position of the undescended testicle.
name: The failure of one or both testes to descend into the scrotum
label: a
answer: yes
explanation: This describes hypospadias, which is the second most common congenital abnormality of the male reproductive tract.
name: The urethral meatus is not situated in the head of the penis
label: e
answer: no
explanation: This describes anorchia, when a person with an XY karyotype is born without testes. If the testes fail to develop within 8 weeks, the baby will develop female genitalia (Swyer syndrome).
name: Being born without testes
label: c
answer: no
explanation: Mono-orchism is when there is only one testicle in the scrotum. This can be a result of cryptorchidism or other reasons such as surgical removal of a testicle (orchiectomy).
name: Only one testicle is present in the scrotum
label: b
answer: no
explanation: This describes aphallia, a very rare developmental abnormality resulting from the failure of formation of the foetal genital tubercle to form.
name: Absence of the phallus (penis or clitoris)
label: d
answer: no

Correct answer: a
At which stage of development do the primary germ layers form?

Options:
explanation: This is the folding process that transforms the neural plate into the neural tube. This occurs after the formation of the primary germ layers.
name: Neurulation
label: c
answer: no
explanation: This is the process of forming the blastula from the morula. The blastula eventually becomes the gastrula, which forms the primary germ layers during gastrulation.
name: Blastulation
label: d
answer: no
explanation: This is the stage of development when the blastocyst adheres to and invades the uterine wall. This occurs a few days before gastrulation when the primary germ layers are formed.
name: Implantation
label: b
answer: no
explanation: Gastrulation is the stage of embryonic development in which the primary germ layers form from pluripotent stem cells: ectoderm, mesoderm and endoderm.
name: Gastrulation
label: a
answer: yes
explanation: This is the process which forms the organs. This starts between week 3 and week 8 of embryonic development and continues until birth.
name: Organogenesis
label: e
answer: no

Correct answer: a
Which of the following features is most likely to be found in polycystic ovary syndrome (PCOS)?

Options:
explanation: NICE recommend that sex hormone-binding globulin (SHBG) is a useful investigation in suspected PCOS, however, SHBG will be normal or low in PCOS.
name: High sex hormone-binding globulin
label: e
answer: no
explanation: These are classic features of PCOS. PCOS is a complex disorder and its aetiology is not fully understood, however, hirsutism and acne are commonly present (due to hyperandrogenism).
name: Hirsutism and acne
label: a
answer: yes
explanation: High levels of LH are classically seen in PCOS. A raised LH: FSH ratio used to be thought of as a classical feature of PCOS, however NICE no longer recommended this as useful in diagnosis.
name: Raised FSH: LH ratio
label: c
answer: no
explanation: PCOS is a complex disorder and its aetiology is not fully understood, however, hyperinsulinaemia and impaired glucose tolerance are commonly seen.
name: Hypoinsulinaemia
label: b
answer: no
explanation: PCOS classically involves hyperandrogenism, which usually manifests as hirsutism, acne and elevated total/free testosterone.
name: Hypoandrogenism
label: d
answer: no

Correct answer: a
Epidemiologists wish to assess the risk factors for condition X, a very rare condition.

Which type of study should they choose and why?

Options:
explanation: Cross-sectional studies are carried out at a single point in time, assessing the prevalence of disease in groups exposed to the risk factor and those not exposed to the risk factor. As the exposure and disease factors are measured at the same time, it is difficult to establish cause and effect, so cross-sectional studies are not useful for assessing risk factors for disease.
name: Cross-sectional study, as this is good at assessing risk factors for disease
label: b
answer: no
explanation: A confounding factor is something that is associated with the exposure (risk factor) and outcome (condition X) and can distort the apparent relationship between them. All observational studies, such as case-control studies, are subject to influence by confounding factors.
name: Case-control study, as this reduces the chance of results being affected by confounding factors
label: d
answer: no
explanation: In case-control studies, a group of subjects with the disease and a group of controls without the disease are selected, and their past exposure (risk factor) status is compared. Case-control studies are good to study rare conditions, as a group of subjects with the disease is selected at the beginning of the study.
name: Case-control study, as condition X is a rare condition
label: a
answer: yes
explanation: A randomised control trial (RCT) is an interventional trial and is used to assess the efficacy of a particular intervention (e.g. treatment for a specific disease). They are not used to assess risk factors for disease.
name: Randomised control trial, as they wish to study multiple potential risk factors for condition X
label: c
answer: no
explanation: Cohort studies involve the classification of participants based on their risk factor status at baseline and following up to determine who develops the disease outcome, This requires large numbers of participants, particularly if the disease is uncommon, resulting in cohort studies being time-consuming and expensive.
name: Cohort study, as this is cheaper and quicker than other types of observational study
label: e
answer: no

Correct answer: a
A bed-bound patient with progressive, terminal cancer has asked her partner to stockpile enough paracetamol for her to take a fatal dose. Her partner provides her with these paracetamol tablets, and she takes the fatal dose, ending her life.

Which legal term best describes the actions of the partner in this scenario?

Options:
explanation: Manslaughter is the crime of killing someone unintentionally or without planning. This is not the case in this scenario, where there was clear pre-meditation and planning by both parties.
name: Manslaughter
label: c
answer: no
explanation: This term is used to describe assisting people with long-term progressive conditions, or those without illness. In cases of assisted suicide, the fatal action/drug dose is self-administered.
name: Assisted suicide
label: a
answer: yes
explanation: Involuntary euthanasia occurs when the person does not want to die. In this scenario, the patient has expressed clear intent of her wish to be assisted in her death, therefore we can assume that she does wish to die. This is called voluntary euthanasia.
name: Involuntary euthanasia
label: e
answer: no
explanation: Active euthanasia is when a person deliberately does something that causes the death of a patient (e.g. directly administering the patient a lethal dose of drug).
name: Active euthanasia
label: b
answer: no
explanation: Passive euthanasia occurs when a patient is intentionally left to die, for example by withholding artificial life-supporting treatment (e.g. ventilation or nutritional support).
name: Passive euthanasia
label: d
answer: no

Correct answer: a
A 69-year-old patient is recovering from an ischaemic stroke involving his left middle cerebral artery. His comprehension remains intact, but he struggles to produce fluent language. The words he produces are formed and phonated normally.

Which of the following is the most likely barrier to communication that this patient is experiencing?

Options:
explanation: Wernicke’s (receptive) aphasia is characterised by a lack of language understanding, but no deficit in language production. Patients demonstrate fluent speech, however, this speech lacks content or meaning. Wernicke’s aphasia can also be caused by a left MCA stroke.
name: Wernicke's aphasia
label: b
answer: no
explanation: Broca’s (expressive) aphasia is characterised by the loss of ability to produce fluent language while maintaining intact comprehension. This is most commonly caused by stroke or trauma to Broca’s area, which is in the lower premotor cortex of the language dominant hemisphere (most commonly the left side). Broca’s area is supplied by the middle cerebral artery (MCA), so strokes involving the left MCA commonly cause this language deficit.
name: Broca's aphasia
label: a
answer: yes
explanation: Apraxia is a motor disorders characterised by the inability to create and sequence effective motor plans. This often involves pauses, elongation, repetition, silent voicing, abnormal rhythm and intonation. Speech apraxia can be caused by stroke, however, Broca’s (expressive) aphasia is far more commonly seen.
name: Speech apraxia
label: c
answer: no
explanation: Dysarthria is the inability to properly move the mouth and tongue muscles to produce speech. This can be caused by stroke, however, the patient's deficit in this scenario is with fluency, not word formation.
name: Dysarthria
label: d
answer: no
explanation: Amnesia is a symptom of memory deficit, not language production deficit as described here. There are multiple different types of amnesia, which are mostly associated with damage to the medial temporal lobe, which more commonly occurs due to head trauma, neurodegenerative disease, drugs or vitamin B12 deficiency than ischaemic stroke.
name: Amnesia
label: e
answer: no

Correct answer: a
Observational studies have shown that the health outcomes of patients receiving vaccine A are better than those of vaccine B, however, a randomised control trial shows no difference.

Which of the following describes the most likely reason for this discrepancy?

Options:
explanation: Although double-blinding is a feature used in many randomised control trials, we do not know if this has been done here, and therefore cannot expect this as the likely reason for the discrepancy.
name: The randomised control trial was double-blinded
label: b
answer: no
explanation: If the measures of health outcomes used here were definitely subjective, for example, self-reporting symptoms on a questionnaire, this could lead to false reporting by subjects. However, we do not know what health outcomes have been measured here. For example, objective measures such as antibody levels could not be falsely reported by the subject.
name: Subjects are more likely to lie about their health outcomes in an observational study
label: d
answer: no
explanation: Using more participants increases the sample size of a study, which can affect the results of the study. The key difference between the two study designs in this example is that the randomised control trial allows minimising of confounding factors that may have influenced the findings in the observational studies. Also, we do not know the sample size used in either study, so cannot comment on this.
name: The randomised control trial used more participants, so its results are more reliable
label: e
answer: no
explanation: Although this is a possibility, this is unlikely, and it is far more likely that the randomised trial has removed the effect of confounding factors seen in observational studies.
name: The randomised control trial produced an anomalous, incorrect result
label: c
answer: no
explanation: One of the major advantages of a randomised control trial is that it minimises (or even eliminates) the effect of confounding factors, which may have been present in observational studies.
name: The randomised control trial minimises the effect of confounding factors, which most likely were present in the observational studies
label: a
answer: yes

Correct answer: a