Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022104 (irritable bowel syndrome)
 8,033 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Effective population size reflects the history of population growth, contraction, and structuring. When the effect of structuring is negligible, the inferred trajectory of the effective population size can be informative about the key events in the history of a population. We used the IBDNe and DoRIS approaches, which exploit the data on IBD sharing between genomes, to reconstruct the recent effective population size in two population datasets of Russians from Eastern European plain: (1) ethnic Russians sampled from the westernmost part of Russia; (2) ethnic Russians, Bashkirs, and Tatars sampled from the Volga-Ural region. In this way, we examined changes in effective population size among ethnic Russians that reside in their historical area at the West of the plain, and that expanded eastward to come into contact with the indigenous peoples at the East of the plain. We compared the inferred demographic trajectories of each ethnic group to written historical data related to demographic events such as migration, war, colonization, famine, establishment, and collapse of empires. According to IBDNe estimations, 200 generations (~6000 years) ago, the effective size of the ancestral populations of Russians, Bashkirs, and Tatars hovered around 3,000, 30,000, and 8,000 respectively. Then, the ethnic Russians exponentially grew with increasing rates for the last 115 generations and become the largest ethnic group of the plain. Russians do not show any drop in effective population size after the key historical conflicts, including the Mongol invasion. The only exception is a moderate drop in the 17th century, which is well known in Russian history as The Smuta. Our analyses suggest a more eventful recent population history for the two small ethnic groups that came into contact with ethnic Russians in the Volga-Ural region. We found that the effective population size of Bashkirs and Tatars started to decrease during the time of the Mongol invasion. Interestingly, there is an even stronger drop in the effective population size that coincides with the expansion of Russians to the East. Thus, 15-20 generations ago, i.e. in the 16-18th centuries in the trajectories of Bashkirs and Tatars, we observe the bottlenecks of four and twenty thousand, respectively. Our results on the recent effective population size correlate with the key events in the history of populations of the Eastern European plain and have importance for designing biomedical studies in the region.
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PMID:Recent effective population size in Eastern European plain Russians correlates with the key historical events. 3254 20

A 38-year-old woman who had been previously diagnosed with irritable bowel syndrome was seen in the outpatient clinic with a 2-year history of intermittent cramp-like abdominal pain which was often followed by watery diarrhoea. She had presented several times previously to the emergency department with episodes of severe pain and collapse although on arrival examination findings were mostly unremarkable other than some mild lower abdominal tenderness. On each occasion, the symptoms resolved spontaneously with conservative management. She had been extensively investigated by her general practitioner to establish the cause of her symptoms but all laboratory findings, cross-sectional imaging, ultrasound and oesophagogastroduodenoscopy to date were unremarkable. After being seen in gastroenterology outpatients' clinic, a colonoscopy was performed and was described as being macroscopically normal but microscopic evaluation of colonic biopsies suggested a possible 'resolving infection'. She was treated symptomatically, but within 6 months she represented to hospital with progressively worsening symptoms of severe abdominal pain, now associated with vomiting, followed by watery diarrhoea and then resolution of the symptoms. An abdominal CT scan was performed which showed a small intraluminal-filling defect in the mid-terminal ileum. A wireless capsule endoscopy was organised to further characterise the lesion although this was reported as showing no abnormality. Prior to any further outpatient investigations, she represented as an emergency to hospital in small bowel obstruction, underwent further cross-sectional imaging followed by surgical resection of the lesion. Histological characterisation revealed a small bowel inflammatory fibroid polyp.
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PMID:Masquerading in the midgut: a rare diagnosis in a patient with recurrent abdominal pain. 3287 25