hllj/quesmed huggingface dataset:
18 year old who has a past medical history of hayfever and eczema presents with a night-time cough, wheezing, shortness of breath and exercise intolerance.

What is most likely to be seen on spirometry with the most likely diagnosis?

Options:
explanation: This is where there is a reduction in the volume of air the lungs can hold, this is often due to the loss of elasticity of the alveoli.

The speed of airflow out of the lungs is not impaired so FVC is reduced and FEV1 is relatively preserved.

This produces a ratio > 70% also known as a restrictive picture. Conditions that cause this include fibrosis/ scarring of the lungs or a pleural effusion.
name: FEV1/FVC ratio 85%
label: b
answer: no
explanation: This would support the restrictive spirometry picture.

The diagnosis of asthma would result in an obstructive spirometry finding.
name: FVC is reduced, FEV1 is preserved
label: e
answer: no
explanation: Restrictive lung conditions can cause an increased FEV1/FVC ratio or can present with a normal ratio with a decreased FVC.

This is because FVC will be reduced with fibrotic or other pathological changes and FEV1 can be preserved. With worsening disease, FEV1 can decraese also and cause a normal ratio.
name: FEV1/FVC ratio 70% with decreased FVC
label: c
answer: no
explanation: The likely diagnosis, in this case, is asthma. This is because the patient has a past medical history of atopy (eczema and hayfever) and the symptoms are highly suggestive.

Spirometry measures forced vital capacity and forced expiratory volume in one second. The normal ratio is about 70%.

In asthma, there is an increase in airway resistance due to secretions and bronchospasm and therefore expiratory flow is reduced. FVC is likely to be normal or slightly low due to air trapping but FEV1 is reduced as airway flow out is not as quick. This results in a ratio of <70%, this can be interpreted as an obstructive lung condition.
name: FEV1/FVC ratio 60%
label: a
answer: yes
explanation: Spirometry can be normal in well-managed asthma but this is the first presentation for this symptomatic patient so is not likely.
name: FEV1/FVC 70%
label: d
answer: no

Correct answer: a
A 66 year old male is diagnosed with community-acquired pneumonia (CAP) based on the clinical features and consolidation on chest X-ray.

On examination, he is orientated to time and place. He has a temperature of 37.8, respiratory rate of 22, blood pressure of 120/90 and oxygen saturation of 93%.

Blood tests show a raised CRP, and urea of 5.

What is her CURB-65 score?

Options:
explanation: The patient has a score of 1 as he is over the age of 65.

Patients with a score of 3 or more have a mortality of >15% and should be admitted to ICU and monitored closely.
name: 4
label: d
answer: no
explanation: The patient scores 1 point for his age.
name: 0
label: b
answer: no
explanation: The patient has a score of 1 as he is over the age of 65.

Patients with a score of 2 have an intermediate risk (mortality 3-15%) and should be treated as an inpatient.
name: 2
label: c
answer: no
explanation: There are only 5 features that are scored 1 point on the CURB- 65 scores.

Therefore, you can only score 0-5 on this assessment tool.
name: 6
label: e
answer: no
explanation: CURB65 stands for:

> Confusion
>
> Urea > 7mg/dL
>
> Respiratory Rate > 30 breaths per minute
>
> Blood pressure <90mmHg systolic or <60mmHg diastolic
>
> Age > 65 years old
>

Each of these features scores 1. The patient is orientated and not confused, urea is normal and under 7, respiratory rate is slightly raised but under 30, blood pressure is normal and the patient is over 65.

Therefore the patient only scores 1 point for 65.

scores 0-1 have a low risk of mortality (<3%) and are treated as an outpatient. However, clinical judgement can overrule this decision and the patient can be treated as an inpatient.
name: 1
label: a
answer: yes

Correct answer: a
A heterosexual couple attends a fertility clinic to discuss their options for conception.

One parent has Cystic Fibrosis (CF) and one parent is a known carrier.

They have a 5 year old child who does not have the disease. If they decide to conceive naturally what is the chance the second child will have CF?

Options:
explanation: One of the parents has a homozygous recessive genotype so the offspring has to inherit one recessive allele.

The other parent is heterozygous so 50% chance of inheriting another recessive gene.
name: 0%
label: b
answer: no
explanation: In autosomal recessive conditions, if both parents are carriers (heterozygous) there is 75% that children will not have the condition.
name: 75%
label: e
answer: no
explanation: CF is an autosomal recessive condition.

When one parent has CF the genotype must be homozygous recessive and the other parent is a heterozygous carrier.

50% of offspring would have CF but if the dominant allele was inherited from the carrier, 50% would be carriers.
name: 50%
label: a
answer: yes
explanation: There is still a 50% chance of inheriting a dominant allele from the heterozygous carrier so not all will have the disease.

If this was a mitochondrial inheritance and the mother was affected, all would be affected.
name: 100%
label: d
answer: no
explanation: If both were heterozygous carriers, there would be a 25% of disease.

50% would be carriers and 25% are not carriers.

These chances don't change depending on previous children.
name: 25%
label: c
answer: no

Correct answer: a
60 year old male presents to the GP with a chronic cough and breathlessness.

Chronic Obstructive Pulmonary Disorder (COPD) diagnosis is made.

What is the greatest risk factor for this condition?

Options:
explanation: Asthma, especially uncontrolled, can lead to chronic inflammation within the lungs. This leads to an increased risk of COPD.
name: Asthma
label: b
answer: no
explanation: This can cause chronic inflammation and irritation within the lungs. Therefore is a risk factor but not as significant as tobacco smoking.
name: Occupational exposure to dust and chemicals
label: e
answer: no
explanation: 90% of cases of COPD are associated with smoking. However, only 10% of smokers develop the condition indicating that there may be a genetic role in the development.

It would be important to ask this patient about his smoking history calculated in pack years.

Pack years = number of cigarettes a day divided by 20 x number of years smoked.
name: Smoking
label: a
answer: yes
explanation: Not a risk factor. However, smokers that are older will have a larger pack-year history and therefore will be more at risk.
name: Age
label: d
answer: no
explanation: Alpha-1 antitrypsin is a protease inhibitor - this acts in the lungs to oppose elastase. Therefore, deficiency results in more breakdown of elastin which is crucial in the structure of alveoli.

1-2% of those with COPD have an underlying deficiency in alpha-1 antitrypsin.

It is a risk factor and should be suspected in patients that are young and non-smokers.
name: Alpha- 1 antitrypsin deficiency
label: c
answer: no

Correct answer: a
80 year old presents to the GP with a chronic cough, haemoptysis and weight loss.

On further questioning, he states he is a retired constructor that previously worked with asbestos.

Which cancer would be most associated with this man?

Options:
explanation: This type of lung cancer is primarily seen in smokers.

It accounts for 15-20% of lung cancers and has an aggressive nature with early metastases.
name: Small cell lung cancer
label: b
answer: no
explanation: This cancer develops in the lining of the lungs known as the pleura.

The only known cause is asbestos exposure.
name: Mesothelioma
label: a
answer: yes
explanation: This is a type of non-small cell lung cancer that makeup 40% of lung cancers. This is seen in the periphery of the lung

smoking and asbestos exposure are both risk factors.

However, asbestos exposure mainly leads to mesothelioma so that is the most likely diagnosis.
name: Adenocarcinoma
label: d
answer: no
explanation: This can cause cannonball metastases to the lungs which can be seen on X-ray.

There is no association with asbestos exposure.
name: Renal cell carcinoma
label: c
answer: no
explanation: This is a type of non-small cell lung cancer that makeup 20% of lung cancers. This is seen in the central parts of the lung so pneumonia secondary to obstruction is common.

Smoking is the most common cause.
name: Squamous cell
label: e
answer: no

Correct answer: a
38 year old female presents to the GP with a painless breast lump. She felt it when she was in the shower about a year ago and has increased in size since then.

On examination, there is a 10mm by 20mm breast lump in the upper right quadrant of the left breast. It feels hard and nodular. There are no skin changes such as erythema and dipping

Her mother was diagnosed with breast cancer at 50 years of age and her grandfather on her mother's died from pancreatic cancer.

Which of these genes is likely to have contributed to the presentation in this family?

Options:
explanation: P53 is a tumour suppressor gene. Mutation in this gene can be seen in the development of sporadic cancers.

Mutations in P53 genes may cause cancer cells to grow and spread in the body and are linked to a genetic condition called Li- Fraumeni Syndrome which increases the risk of various cancers including sarcomas, breast cancer, leukaemias and adrenal cancer.
name: P53
label: c
answer: no
explanation: BRCA genes are tumour suppressor genes and help repair damaged DNA that has had double-strand breaks.

When mutations occur, they increase the risk of developing cancers such as breast, ovarian, colorectal, pancreatic and prostate cancer.
name: BRCA1 and 2
label: a
answer: yes
explanation: This is a mismatch repair gene. These genes allow corrections that DNA polymerase has made. For example, insertion and deletion can be reversed to prevent frameshift mutations.

They specifically allow the detection of mistake in DNA. This allows the excision of the mistake and resynthesis of the DNA with DNA polymerase. There is a normal cell division rate but an increased mutation rate.

This is associated with Hereditary Non-polyposis Colorectal Carcinoma/ Lynch Syndrome. These patients can develop polyps which can rapidly convert to large, non-fibrous cancerous tumours in the colon.
name: MLH1
label: b
answer: no
explanation: This is a tumour suppressor gene that regulates cell cycle progression. There is an inherited condition called Familial adenomatous polyposis (FAP) where a defective APC gene is inherited.

When defective, there is more susceptibility that the gene will develop more mutations that can lead to colorectal cancers as there is an increased rate of cell division.

Colonoscopy shows multiple benign tumours - polyp.
name: APC
label: d
answer: no
explanation: These are also mismatch repair genes that lead to an increased mutation rate in Lynch syndrome.

The other genes associated are MLH1 and PMS1 and 2.
name: MSH2 and 6
label: e
answer: no

Correct answer: a
71 year old female is asking about the prognosis after receiving a diagnosis of colon cancer.

A combination of analytical tests is performed on the tissue biopsy to examine the tumour microenvironment and see what receptors are present within the tumour.

Which of these correlates with a poor prognosis of cancer?

Options:
explanation: High interstitial pressure within the tumour forms a barrier to transcapillary transport. This can result in a barrier to inefficient uptake of therapeutic agents by the tumour.

Therefore lower pressures may allow better delivery of cancer-targeted medications.
name: Low Interstitial Fluid Pressure within Extracellular matrix
label: d
answer: no
explanation: When this receptor is present, it means that the tumour can be targeted with anti-oestrogen therapy to slow down the tumour growth.

This is a target for treatment and can improve prognostic outcomes
name: Oestrogen Receptor positive
label: b
answer: no
explanation: cancer-associated fibroblasts are similar to those involved in the tissue repair process.

They play a role in maintaining the extra-cellular matrix of a tumour by remodelling and depositing cells.

They communicate with cells nearby and promote invasion and metastases. They also play a role in angiogenesis and immune cell recruitment.

Therefore, the presence of these cells is associated with poor prognosis.
name: Absence of cancer-associated fibroblasts
label: c
answer: no
explanation: The tumour can recruit immune cells and block the CD8 T cells from proliferating and attacking the tumour.

Correlates with a poor prognosis.
name: Tumour Associated macrophages
label: a
answer: yes
explanation: Cancers with this receptor are associated with being faster growing but can be better targeted with drug treatments and can respond well and improve prognosis.
name: Presence of epidermal growth receptors
label: e
answer: no

Correct answer: a
70 year old male has been diagnosed with bowel cancer in the sigmoid colon.

There is no family history of cancers and he has no significant past medical history.

Which of these is likely to mutate first to produce an early adenoma?

Options:
explanation: In those with melanoma, 50-60% will have a mutation in the B-RAF gene. This gene plays a crucial role in activating the MAP - Kinase pathway which drives cellular proliferation.

This is activated by K-RAS upstream to promote cellular proliferation.
name: B- RAF
label: b
answer: no
explanation: TERT mutations are responsible for the transformation of the intermediate lesion to melanoma in situ.

TERT works with the enzyme telomerase to increase the length of chromosomes. These are mainly inactive in adults. Mutation results in increased expression and activation of this protein. Mutations are most likely to occur in sun-exposed areas and with B-RAF and CDKN2A mutations.

TERT promoter region mutations are seen in 30% of malignant melanomas.
name: TERT
label: d
answer: no
explanation: BRCA genes are tumour suppressor genes and help repair damaged DNA that has had double-strand breaks.

In homologous recombination, BRCA1 and 2 associate themselves at the terminal where the strand break is. These, along with other proteins guide them to other undamaged DNA and by the complementary pairing of the nucleotide bases the DNA strand is reformed and stuck together.

When mutations occur, they increase the risk of developing cancers such as breast, ovarian, colorectal, pancreatic and prostate cancer.
name: BRCA 1
label: e
answer: no
explanation: Responsible for 60-80% of sporadic cancers.

Beta-catenin within the colonic crypt cells binds to DNA and promotes transcription. APC targets Beta-catenin for destruction to prevent transcription and proliferation.

When APC is mutated beta-catenin is not degraded and is free to go into the nucleus and promote proliferation.

Adenomas develop which are precursors for cancer.
name: APC
label: a
answer: yes
explanation: This oncogene is the most frequently mutated gene in human cancers.

Ras is responsible for the downstream signalling of cellular proliferation in the MAP-kinase pathway.

When mutated, Ras becomes permanently active resulting in uncontrolled proliferation.

This is seen in Colorectal cancer (CRC) for transforming adenoma into a late adenoma.
name: K-RAS
label: c
answer: no

Correct answer: a
A heterosexual couple attends a fertility clinic to discuss their options for conception.

Mother is a known carrier of haemophilia.
Father is unaffected.

What is the likelihood the child will have the disease?

Options:
explanation: The father is unaffected therefore his X chromosome has the dominant allele.

This confirms that if they had a girl she may be a carrier but would not be affected by this condition
name: 100%
label: d
answer: no
explanation: Haemophilia is an example of an X-linked recessive condition. This means the gene is only carried on the X chromosome; females inherit 2 copies and males only inherit 1. Therefore, males only need to inherit 1 copy to have the disease and females need 2 copies.

As the father is unaffected and does not carry the gene, the X chromosome will have the dominant allele. Therefore, if the couple has a girl they will not have the disease but there is a 50% that they will be a carrier.

There is a 50% chance of having a boy and a 50% chance of a mother passing on her X chromosome with the recessive gene, therefore the overall risk is 25%.
name: 25%
label: a
answer: yes
explanation: If they had a boy, there would be a 50% chance this child would inherit the allele from the mother and have the disease.

However, this question is asking about the risk overall not based on the sex of the baby.
name: 50%
label: b
answer: no
explanation: There is a 75% chance the child would NOT have the condition.
name: 75%
label: e
answer: no
explanation: There is a 50% chance the mother will pass on this gene. Therefore, the case of a child being affected by the condition is above 0%.
name: 0%
label: c
answer: no

Correct answer: a
A family is currently being counselled on their family history of Huntington's disease.

They are told that even if the gene is inherited doesn't mean they will go on to have the disease.

Which of the following describes this genetic phenomenon?

Options:
explanation: Huntington's disease is inherited in an autosomal dominant manner. This means that only one allele is required for someone to have the disease.

However, this question is asking how you can inherit a gene and not 'express' the gene. In other words not develop Huntington's disease.
name: Autosomal Dominant
label: e
answer: no
explanation: Only one allele is required for the expression of the gene and development of a disease, examples include sickle cell anaemia and cystic fibrosis.

Huntington's disease is autosomal dominant and is more likely to show incomplete penetrance which is what this question is describing.
name: Autosomal Recessive
label: c
answer: no
explanation: The mitochondrial DNA is only inherited from the mother. Therefore if the mother is affected by a condition 100% of the offspring will be affected. If the father is affected by the condition, no offspring will be affected.
name: Mitochondrial inheritance
label: d
answer: no
explanation: This is where a patient can have the mutation but be asymptomatic for their entire life.

This is mostly associated with autosomal dominant conditions where even though they inherit the gene, the disease may not develop.

Another example is the inheritance of a BRCA mutation. This is a dominant inheritance but not all people will develop cancer.
name: Incomplete Penetrance
label: a
answer: yes
explanation: This is seen in trinucleotide repeat expansion disorders. Examples of these could be Huntington's disease and fragile x syndrome.

This refers to the disease severity and duration worsening with each generation. This is due to the expansion of the region of triplet base repeats.

Even though this can happen with Huntington's disease, this doctor is describing the possibility of offspring not expressing the gene at all. This is called incomplete penetrance.
name: Anticipation
label: b
answer: no

Correct answer: a
A 7 year old child is recently diagnosed with Fredrich's ataxia and is struggling to carry out everyday activities such as washing and dressing. The parents are concerned that he may even need a wheelchair in a few years.

The father states that the child's symptoms are developing much faster than his father's.

Why is the boy's symptom onset worse than his grandfather who had the same condition?

Options:
explanation: This is seen in trinucleotide repeat expansion disorders such as Fredrich's ataxia.

This case describes worsening of disease severity and duration with increasing generations. This is due to the expansion of the region of triplet base repeats.
name: Anticipation
label: a
answer: yes
explanation: The mitochondrial DNA is only inherited from the mother. Therefore if the mother is affected by a condition 100% of offspring will be affected. If the father is affected by the condition, no offspring will be affected.
name: Mitochondrial Inheritance
label: e
answer: no
explanation: This is where both alleles for a gene are expressed.

For example a flower that have red and white flowers formed from a purely white flowered plant and purely red flowered plant.

This is different from incomplete dominance, where an intermediate is formed such as pink flowers.
name: Codominance
label: d
answer: no
explanation: Fredrich's ataxia is inherited in an autosomal recessive way which means two alleles are required to express the gene and develop this condition.

However, this case is describing anticipation which is where there is an earlier, more severe presentation of the disease with increasing generations due to amplification of the mutation.
name: Autosomal recessive inheritance
label: b
answer: no
explanation: This refers to an autosomal dominant trait that is only partially expressed.

For example, if one parent has straight hair and one parent has curly hair, incomplete dominance in the child could be wavy hair. This is an intermediate of the two alleles.
name: Incomplete dominance
label: c
answer: no

Correct answer: a
A concerned mother brings her 2 day old baby to the GP concerned of weight loss.

Weight at birth was 3000g, today he was 2800g.

What is the most appropriate action?

Options:
explanation: If weight loss >10% or they had not regained weight by 3 weeks this would be the appropriate action.
name: Refer urgently to paediatrics
label: b
answer: no
explanation: They should be offered regular health and development reviews with plenty of support on feeding and development until then.
name: Reassure with no follow-up
label: e
answer: no
explanation: <10% of birth weight loss in the first few days is normal. Therefore this would be inappropriate as the baby is otherwise healthy.
name: Send straight to the emergency department
label: c
answer: no
explanation: This may be considered if the newborn is showing signs of infection such as persistent crying, irritability and fever. However, this child is otherwise well so infection seems unlikely.

This doctor should safety net and say if the baby develops any of these symptoms or weight drops below 2700g to seek medical attention.
name: Prescribe antibiotics
label: d
answer: no
explanation: A healthy newborn is expected to lose up to 10% of their body weight due to the retention of fluid.

However, should regain this weight within the first 2 weeks. The mother should be reassured and provided support from a health professional about feeding.

Regular health and development reviews should be arranged up to the age of 2 years of age.

If there are no concerns this should be every month up til the age of 6 months, then every 2 months up to 12 months and then every 3 months up to the age of 24 months.
name: Reassure with follow up in one month
label: a
answer: yes

Correct answer: a