Asians are known the world over as being"good at math".This is a stereotype perpetuated by popular culture in the west.But is there some truth to it?Probably,and I can see how it happens.I’ve observed that ...Asians are known the world over as being"good at math".This is a stereotype perpetuated by popular culture in the west.But is there some truth to it?Probably,and I can see how it happens.I’ve observed that in daily life,Chinese people do more math than Americans.In fact,one can even say daily life in China is an ongoing math test.I can展开更多
BACKGROUND Juvenile polyposis syndrome(JPS)is a rare hereditary polyposis disease frequently associated with an autosomal-dominant variant of the SMAD4 or BMPR1A gene.It often manifests with symptoms in children and a...BACKGROUND Juvenile polyposis syndrome(JPS)is a rare hereditary polyposis disease frequently associated with an autosomal-dominant variant of the SMAD4 or BMPR1A gene.It often manifests with symptoms in children and adolescents and is infrequently diagnosed in asymptomatic adults.Establishing the diagnosis is important as patients with JPS have a high risk of developing gastrointestinal cancer and require genetic counselling and close routine follow-up.CASE SUMMARY We report on the case of a 56-year-old female diagnosed with JPS after genetic testing revealed a rare variant of the BMPR1A gene BMPR1A c.1409T>C(p.Met470Thr).She was initially referred for colonoscopy by her general practitioner after testing positive on a screening faecal immunochemical test and subsequently found to have polyposis throughout the entire colorectum on her index screening colonoscopy.The patient was asymptomatic with a normal physical examination and no related medical or family history.Blood tests revealed only mild iron deficiency without anemia.To date,there has only been one other reported case of JPS with the same genetic variant.Subsequent colonoscopies were organised for complete polyp clearance and the patient was returned for surveillance follow-up.CONCLUSION JPS patients can present with no prior symptoms or family history.Genetic testing plays an important diagnostic role guiding management.展开更多
文摘Asians are known the world over as being"good at math".This is a stereotype perpetuated by popular culture in the west.But is there some truth to it?Probably,and I can see how it happens.I’ve observed that in daily life,Chinese people do more math than Americans.In fact,one can even say daily life in China is an ongoing math test.I can
文摘BACKGROUND Juvenile polyposis syndrome(JPS)is a rare hereditary polyposis disease frequently associated with an autosomal-dominant variant of the SMAD4 or BMPR1A gene.It often manifests with symptoms in children and adolescents and is infrequently diagnosed in asymptomatic adults.Establishing the diagnosis is important as patients with JPS have a high risk of developing gastrointestinal cancer and require genetic counselling and close routine follow-up.CASE SUMMARY We report on the case of a 56-year-old female diagnosed with JPS after genetic testing revealed a rare variant of the BMPR1A gene BMPR1A c.1409T>C(p.Met470Thr).She was initially referred for colonoscopy by her general practitioner after testing positive on a screening faecal immunochemical test and subsequently found to have polyposis throughout the entire colorectum on her index screening colonoscopy.The patient was asymptomatic with a normal physical examination and no related medical or family history.Blood tests revealed only mild iron deficiency without anemia.To date,there has only been one other reported case of JPS with the same genetic variant.Subsequent colonoscopies were organised for complete polyp clearance and the patient was returned for surveillance follow-up.CONCLUSION JPS patients can present with no prior symptoms or family history.Genetic testing plays an important diagnostic role guiding management.
