The Bardet-Biedl Syndrome - Diagnosis and Follow-up.

[The Bardet-Biedl Syndrome - Diagnosis and Follow-up]. Klin Monbl Augenheilkd. 2020 Mar;237(3):239-247 Authors: Rohrschneider K, Bolz HJ Abstract The Bardet-Biedl syndrome (BBS) is a rare inherited ciliopathy, which is accompanied by retinal disease, i.e. rod-cone dystrophy (retinitis pigmentosa, RP) and other symptoms, especially truncal obesity, polydactyly, renal abnormalities as well as reduced intelligence or learning difficulties. 25 BBS genes are currently known, and these are responsible for the structure and function of primary cilia. Because ciliary integrity is crucial for numerous pathways of developmental signaling, their dysfunction may cause multisystemic disorders - like BBS. Physicians benefit greatly from new molecular genetic methods that have made genetically heterogeneous conditions diagnostically accessible: By next-generation sequencing (NGS), all BBS-associated genes can be analysed simultaneously in a gene panel. As regards the retinal phenotype, genotype-phenotype correlations are not significant. Besides classical autosomal recessive inheritance, oligogenic/triallelic traits have been reported, but these seem to play a minor role, if any (as a growing number of large-scale NGS-based studies suggests). In the absence of causal therapy, the mainstay of ophthalmological endeavour is focused on visual rehabilitation with low vision aids, use of the white cane and training to develop everyday life skills. PMID: 32182628 [PubMed -...
Source: Klinische Monatsblatter fur Augenheilkunde - Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research

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CONCLUSIONS In this Caribbean population, uncontrolled asthma was independently associated with obesity, late-onset disease, and comorbidities of sleep apnea and depression. Poor asthma-related quality of life was independently associated with Indo-Caribbean ethnicity. PMID: 32493146 [PubMed - as supplied by publisher]
Source: Journal of Asthma - Category: Respiratory Medicine Tags: J Asthma Source Type: research
CONCLUSION: We conclude that visfatin in serum may be a new independent potential marker of AMI. PMID: 32495751 [PubMed - as supplied by publisher]
Source: Biomedical Papers of the Medical Faculty of the Univ Palacky Olomouc Czech Repub - Category: Biomedical Science Tags: Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub Source Type: research
This study used nationally representative data from demographic and health surveys (DHS) in Namibia, Kenya and Sierra Leone. A direct sisterhood method was used to estimate pregnancy-related deaths based on 7 years of recollection. Findings of the study reveal that death during the antenatal period was the commonest time of death in mothers aged 15-19, while death during delivery and two months after delivery were the leading causes of death for mothers aged 20-24. Pregnancy-related deaths were more prevalent among women with no schooling or primary education than their counterparts with secondary and higher education.Impa...
Source: Journal of Obstetrics and Gynaecology - Category: OBGYN Tags: J Obstet Gynaecol Source Type: research
ConclusionsThe use of Kaiser score in high-risk MRI screening reliably excludes malignancy in more than 45% of contrast-enhancing lesions classified as BI-RADS 4.Key Points•The Kaiser score shows high diagnostic accuracy in identifying malignancy in contrast-enhancing lesions in patients undergoing high-risk screening for breast cancer.•The application of the Kaiser score may avoid> 45% of unnecessary breast biopsies in high-risk patients.•The Kaiser score aids decision-making in high-risk breast cancer MRI screening programs.
Source: European Radiology - Category: Radiology Source Type: research
Publication date: Available online 4 June 2020Source: Physiology &BehaviorAuthor(s): Maud Miguet, Kristine Beaulieu, Alicia Fillon, Marwa Khammassi, Julie Masurier, Céline Lambert, Martine Duclos, Yves Boirie, Graham Finlayson, David Thivel
Source: Physiology and Behavior - Category: Physiology Source Type: research
Org. Biomol. Chem., 2020, Accepted Manuscript DOI: 10.1039/D0OB01084G, PaperAurea Rivas, Raquel Pequerul, Vito Barracco, Marta Dominguez Seoane, Susana L ópez, Rafael Jiménez, Xavier Pares, Rosana Alvarez, Jaume Farres, Angel R. de LERA The human aldo-keto reductases (AKRs) are enzymes involved in the reduction, among other substrates, of all-trans-retinal to all-trans-retinol (vitamin A), thus contributing to the control of the levels of retinoids... The content of this RSS Feed (c) The Royal Society of Chemistry
Source: RSC - Organic and Biomolecular Chemistry - Category: Molecular Biology Authors: Source Type: research
Authors: Watahiki T, Okada K, Warabi E, Nagaoka T, Suzuki H, Ishige K, Yanagawa T, Takahashi S, Mizokami Y, Tokushige K, Ariizumi SI, Yamamoto M, Shoda J Abstract Gender and menopause influence the severity and development manner of nonalcoholic steatohepatitis (NASH). Male p62/Sqstm1 and nuclear factor E2-related factor-2 (p62 and Nrf2) double-knockout (DKO) mice exhibit severe steatohepatitis caused by hyperphagia-induced obesity, overload of lipopolysaccharide (LPS) into the liver, and potentiation of the inflammatory response in Kupffer cells. However, the pathogenetic phenotype of steatohepatitis in female DKO...
Source: Experimental Animals - Category: Research Tags: Exp Anim Source Type: research
Conclusion: The prevalence of self-reported hypertension increased significantly in the study period. Considering this disease ’ s impact on society, knowing its current prevalence and identifying its main associated factors, the need to intensify the efforts to prevent it disease is evident in order to mitigate damage to individuals and impact on public expenditure.
Source: Revista Brasileira de Epidemiologia - Category: Epidemiology Source Type: research
Conclusion: Worst indicators among women receiving BF reflect social inequalities inherent in this most vulnerable group. The study also shows that BF is being targeted at the most vulnerabl e women.
Source: Revista Brasileira de Epidemiologia - Category: Epidemiology Source Type: research
CONCLUSION: The matrix effect caused by exogenous and endogenous interferences in the blood could be a hidden factor increasing the prevalence of vitamin D deficiency by causing falsely low 25OHD3 values. Suspicious results should be remeasured by a dilution study. PMID: 32496995 [PubMed - as supplied by publisher]
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - Category: Drugs & Pharmacology Tags: Endocr Metab Immune Disord Drug Targets Source Type: research
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