Annals of medicine
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The prevalence of obesity and dyslipidaemia was observed to be increased among the tribal populations, due to globalization. ⋯ The observed differences can possibly attribute to both their respective ancestries resulting in different gene pools and the physical environment. The results of the study highlight the importance of gene-gene and gene-environment interactions in adverse phenotype groups.KEY MESSAGEAmong the tribal population, the prevalence of obesity and dyslipidaemia has been increased.Differential distribution and associations of selected markers hint towards differential genetic architecture in these populations.MC4R rs17782313 polymorphism was found to show a significantly decreased risk for WHtR and low HDL among the Liangmai tribe and BMI among the Mizo tribe.Significant increased risk posed by FTO rs9939609 gene polymorphism was moderated by the interaction with MC4R rs17782313.
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Maternal hypothyroidism has been reported to have concerns over neonatal outcomes, not only in the context of neurocognitive development but also in the short term as birth weight and neonatal jaundice. ⋯ We report the neonatal outcomes and spectrum of congenital anomalies of hypothyroid pregnancies diagnosed before and during conception for the first time from the region of Pakistan.KEY MESSAGEOverall, none of the neonates of hypothyroid pregnancies developed congenital hypothyroidism.Cardiovascular defects in these neonates imply extensive screening and monitoring during pregnancy.Low birth weight and congenital anomalies are associated with the timings of diagnosis of hypothyroidism in pregnancy.
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The SARS-CoV-2 pandemic has forced healthcare providers to reorganize their activities to protect the population from infection, postponing or suspending many medical procedures. Patients affected by chronic conditions were among the most affected. In the case of catastrophes, women have a higher lifetime prevalence of post-traumatic stress disorder (PTSD), and those with endometriosis have higher anxiety levels, making them fragile in such circumstances. ⋯ Women with endometriosis are particularly exposed to the risk of PTSD during the SARS-CoV-2 pandemic, especially if they are older or have higher levels of anxiety. Gynaecologists should resort to additional strategies, and telemedicine could represent a feasible tool to help patients cope with this situation.KEY MESSAGESThe COVID-19 pandemic significantly impacted the lives of women with endometriosis, who appeared to have a considerable risk of PTSD.Older age, higher anxiety levels and unemployment were independently associated with the risk of developing PTSD.Clinicians should develop successful alternative strategies to help patients cope with this situation, and telemedicine might represent an applicable and acceptable solution.
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During early embryo invasion (48 h after embryo attachment), what functional changes accompany dynamic gene expression alterations in human endometrial stromal cells? ⋯ Our data identify dynamic transcriptome changes that occur in endometrial stromal cells within 48 h after embryo invasion. The pathways that we found to be enriched in phESCs after embryo invasion (oxidative phosphorylation, mitochondrial organization, and P53 signalling) may represent novel mechanisms underlying embryo implantation, and may illuminate the reasons that some women experience reproductive failure.Key messagesHuman endometrial stromal cells have undergone changes in gene expression regulation and signalling pathways during the embryo invasion.Mitochondrial-oxidative phosphorylation changes in human stromal cells manifested as down-regulation of gene expression in the electron transport chain.TP53 signalling pathway and transcriptional regulator EP300 assist stromal cells to get adaptive changes during embryo invasion phase.
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Observational Study
Variability of blood eosinophil count and prognosis of COPD exacerbations.
Eosinophils in peripheral blood are one of the emerging biomarkers in chronic obstructive pulmonary disease (COPD) patients. However, when analysing the relationship between peripheral eosinophilia and COPD prognosis, highly variable results are obtained. The aim of our study is to describe the serum eosinophilia levels in COPD patients and to analyse their relationship to prognosis following hospital admission. ⋯ The results of our study do not seem to support the usefulness of BEC as a COPD biomarker.KEY MESSAGESThere is evidence that BEC participates in pathophysiological mechanisms of the COPD.BEC may be useful as a biomarker in COPD for aspects such as the optimization of treatments.We did not find any relationship between BEC levels and prognosis following hospital admission for AECOPD.