Genes, Vol. 10, Pages 967: Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

This study refines the phenotype recently delineated in association with biallelic null alleles in TNXB, and adds three novel variants to its mutational repertoire. Unusual digital anomalies seem confirmed as possibly peculiar of TNXB-clEDS, while vascular fragility could be more than a chance association also in this Ehlers-Danlos syndrome type.
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research

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IJERPH, Vol. 17, Pages 638: Dietary Folate Intake and Folic Acid Supplements among Pregnant Women from Southern Italy: Evidence from the “Mamma & Bambino” Cohort International Journal of Environmental Research and Public Health doi: 10.3390/ijerph17020638 Authors: Martina Barchitta Andrea Maugeri Roberta Magnano San Lio Giuliana Favara Claudia La Mastra Maria Clara La Rosa Antonella Agodi Folate requirement among women who plan to become pregnant should be raised to 600 μg/day during the periconceptional period. To meet this need, several countries began to promote the use of foli...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
There are various and diversified ways of admission of a substance user into a therapeutic community. When these ways result from actions that are inconsistent with the general objective of the service, they may lead to adverse outcomes that substantially ...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Alcohol and Other Drugs Source Type: news
AIMS: We aimed at analyzing homicide trends and patterns in Italy over the period 1980-2014. METHODS: We collected data from the Italian Mortality Database (Italian National Institute of Statistics), for the study period. Temporal trends were analy...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Risk Factor Prevalence, Injury Occurrence Source Type: news
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Source: Journal of Ethnicity in Substance Abuse - Category: Addiction Authors: Source Type: research
Publication date: Available online 16 January 2020Source: American Journal of Kidney DiseasesAuthor(s): Jelmer K. Humalda, Gerald Klaassen, Hanne de Vries, Yvette Meuleman, Lara C. Verschuur, Elisabeth J.M. Straathof, Gozewijn D. Laverman, Willem Jan W. Bos, Paul J.M. van der Boog, Karin M. Vermeulen, Olivier A. Blanson Henkemans, Wilma Otten, Martin H. de Borst, Sandra van Dijk, Gerjan J. Navis, P.J.M. van der Boog, S. van Dijk, G.J. Navis, J.K. Humalda (project coordination), G. KlaassenRationale &ObjectivePatients with chronic kidney disease (CKD) are particularly sensitive to dietary sodium. We evaluated a self-man...
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
Primary care is the bedrock of a health care system that works. For most people, seeing a doctor regularly can help prevent small medical concerns from turning into full-blown emergencies. For the next episode of The Dose podcast, we hear from Los Angeles Times reporter Noam Levey, who recently wrote about the differences between the primary care systems in the United States and the Netherlands through the eyes of two doctors, one working in each country.        
Source: The Commonwealth Fund: Publications - Category: International Medicine & Public Health Authors: Source Type: research
In Italy, earthquakes caused by volcanoes are of primary importance in the evaluation of seismic hazard, since several volcanoes seriously endanger densely populated areas (e.g. Catania and surroundings, Campi Flegrei, Vesuvius). On the other hand, there a...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Disaster Preparedness Source Type: news
A 30 year-old female was admitted with a five-day history of chest and abdominal pain with vomiting and constipation . She had undergone laparoscopic Roux-en-Y gastric bypass in Chile five months prior. Her medical history included Ehlers Danlos syndrome (vascular type) and bipolar disorder. A CT chest and abdomen revealed a large diaphragmatic hernia with small bowel, gastric pouch and gastric remnant within the left hemithorax. She was transferred to St Mary ’s Hospital under the care of the Bariatric Surgery team and underwent an emergency laparoscopy.
Source: Surgery for Obesity and Related Diseases - Category: Surgery Authors: Source Type: research
This article is protected by copyright. All rights reserved. PMID: 29917237 [PubMed - as supplied by publisher]
Source: The Journal of Physiology - Category: Physiology Authors: Tags: J Physiol Source Type: research
This study was a review of one institution's experience with pediatric robotic rectopexy. With short-term follow-up, there was no recurrence of prolapse. Robotic rectopexy provided a safe, reliable, and short-term resolution of rectal prolapse in pediatric patients. PMID: 29336759 [PubMed - in process]
Source: The American Surgeon - Category: Surgery Authors: Tags: Am Surg Source Type: research
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