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A pilot study of the association between genetic polymorphisms involved in estrogen signaling and infant male genital phenotypes

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Asian Journal of Andrology 2012年第5期14卷 766-772页

作者： Sheela Sathyanarayana Shanna H Swan Federico M Farin Hui-Wen Wilkerson Michael Bamshad richard grady Chuan Zhou Stephen M Schwartzy Department of Pediatrics University of WashingtonSeattleWA 98195USA Center for Child Health Behaviorand DevelopmentSeattle Children's Research InstituteSeattleWA 98105USA Department of Preventive Medicine Mount Sinai School of MedicineNew YorkNY 10029USA Department of Environmental and Occupational Health Sciences University of WashingtonSeattleWA 98195USA Department of Genome Sciences University of WashingtonSeattleWA 98195USA Division of Pediatric Urology Seattle Children's HospitalSeattleWA 98105USA Department of Epidemiology University of WashingtonSeattleWA 98195USA Epidemiology Program Fred Hutchinson Cancer Research CenterSeattleWA 98109USA

Single nucleotide polymorphisms （SNPs） in genes that influence development of the male reproductive tract have been associated with male genitourinary abnormalities. However, no studies have tested the relationship between SNPs and intermediate phenotypes such as anogenital distance （AGD）, anoscrotal distance （ASD） and penile width （PW）. We tested whether 24 common SNPs in eight genes that influence male genital development were associated with intermediate phenotypes in 106 healthy male infants from the Study for Future Families. We used DNA from buccal smears and linear regression models to assess the relationship between anogenital measurements and SNP genotypes with adjustment for covariates. We found that the rs2077647 G allele, located in the coding region of estrogen receptor alpha （ESR1）, was associated with a shorter AGD （P=0.02; -7.3 mm, 95% confidence interval （CI）： -11.6 to -3.1）, and the rs10475 T allele, located in the 3＇ untranslated region of activating transcription factor 3 （ATF3）, was associated with a shorter ASD （-4.3 mm, 95% Ch -7.2 to -1.4）, although this result was not significant （P=0.07） after controlling for multiple comparisons. We observed no association between PW and the SNPs tested. Minor alleles for two SNPs in genes that regulate estrogen signaling during male genital development were associated with AGD and ASD, although the significance of the association was marginal. Our findings suggest that AGD and ASD are influenced by heritable factors in genes known to be associated with frank male genital abnormalities such as hvpospadias and crvotorchidism.

关键词： gene hypospadias male phenotype polymorphism reproductive

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Review of the role of abdominal imaging in irritable bowel syndrome

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World Journal of Radiology 2018年第11期10卷 143-149页

作者： richard G Kavanagh John O'grady Brian W Carey Owen J O'Connor Michael M Maher Department of Radiology Cork University Hospital Department of Gastroenterology Cork University Hospital APC Microbiome Ireland University College Cork

The role of radiologic imaging in the investigation of irritable bowel syndrome(IBS) remains a subject of debate and there is some evidence, from recent studies of utilization of imaging in IBS, which focused on associated costs and radiation exposure, that imaging is being used relatively widely in these patients. This review aims to assess current best evidence to accurately define the role of radiologic imaging in IBS patients. Primary and secondary literature searches were performed. Evidence suggests that the lack of "red flag" or alarm features in IBS patients should reassure the clinician that the diagnosis of IBS is correct and United States and United Kingdom guidelines recommend no radiologic imaging for IBS patients if alarm features are not present. In patients presenting with IBS symptoms and alarm features, radiologic testing may be used to exclude an alternative diagnosis and the imaging modality should be chosen based on the most likely alternative diagnosis.

关键词： Abdominal imaging Rome criteria Irritable bowel syndrome

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Intensive care unit hospitalizations and outcomes in patients with severe COVID-19 during summer and fall surges in Georgia

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World Journal of Critical Care Medicine 2021年第6期10卷 369-376页

作者： Titilope Olanipekun Temidayo Ayotomiwa Abe Valery Sammah Effoe Joffi E Musonge-Effoe Agusiegbe Chuks Esther Kwara Alexandra Caldwell Samed Obeng Nicolas Bakinde Gloria Westney richard Snyder Department of Hospital Medicine Covenant Health SystemKnoxvilleTNCovenant Health SystemKnoxvilleTX 37922United States Department of Medicine Morehouse School of MedicineAtlantaGA 30310United States Department of Cardiology Morehouse School of MedicineAtlantaGA 30310United States Department of Clinical Research Morehouse School of MedicineAtlantaGA 30310United States Department of Medicine Pulmonary and Critical Care SectionMorehouse School of MedicineAtlantaGA 30310United States

BACKGROUND There is limited data on the difference in the clinical characteristics and outcomes of patients with severe coronavirus disease 2019(COVID-19)infection in the summer compared to the fall *** To compare the sociodemographic,clinical characteristics,and outcomes among mechanically ventilated patients with severe COVID-19 infection admitted to the intensive care unit(ICU)during the summer and fall surges in the year *** We included patients admitted to the ICU and treated with invasive mechanical ventilation for COVID-19 associated respiratory failure between April 1 and December 31,*** were categorized into summer surge for ICU admissions between June 15,2020,and August 15,2020,and fall surge between October 15,2020,and December 31,*** compared patients'characteristics and outcomes using descriptive and inferential *** A total of 220 patients were admitted to the grady Memorial Hospital ICU and mechanically ventilated for COVID-19 associated hypoxemic respiratory failure during the period considered(125 during the summer surge and 95 during the fall surge).More women were admitted in the fall compared to summer(41.1%vs 36.8%,difference,4.3%;95%CI:1.2,7.5).Patients admitted in the fall had fewer comorbidities(chronic obstructive pulmonary disease,stroke,diabetes mellitus,obstructive sleep apnea and body mass index≥35 kg/m2).Overall,patients in the fall had a lower ICU mortality rate(27.4%vs 38.4%,difference,-11.0;95%CI:-6.4,-18.2),shorter length of stay on the mechanical ventilator(7 d vs 11 d,difference,4 d;95% CI:2.1,6.6)and shorter ICU length of stay(9 d vs 14 d,difference,5 d;95% CI:2.7,9.4).CONCLUSION Patients admitted with severe COVID-19 infection requiring mechanical ventilation had better outcomes in the fall than *** difference observed is likely attributable to a better understanding of the condition and advances in treatment strategies.

关键词： COVID-19 COVID-19 surge Georgia Intensive care unit Mechanical ventilation

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