Vertebral artery dissection in a female patient with Turner's syndrome : Unusual cause of a radicular lesion.

[Vertebral artery dissection in a female patient with Turner's syndrome : Unusual cause of a radicular lesion.] Nervenarzt. 2014 May 23; Authors: Barg N, Kapp B, Isenhardt K PMID: 24849119 [PubMed - as supplied by publisher]
Source: Der Nervenarzt - Category: Neurology Authors: Tags: Nervenarzt Source Type: research

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Conclusions: Our study demonstrates that applying GS in fetuses with increased NT can comprehensively detect and delineate the various genomic variants that are causative to the diseases. Importantly, prenatal diagnosis by GS doubled the diagnostic yield compared with routine protocols. Given a comparable turn-around-time and less DNA required, our study provides strong evidence to facilitate GS in prenatal diagnosis, particularly in fetuses with increased NT.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short statu...
Source: Italian Journal of Pediatrics - Category: Pediatrics Authors: Tags: Letter to the Editor Source Type: research
The study of Turner syndrome offers a unique window of opportunity for advancing scientific knowledge of how X chromosome gene imprinting, epigenetic factors, hormonal milieu and chronologic age affects brain development in females.
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Archival Report Source Type: research
In this study, we compared the types of congenital heart malformation, accompanying diseases and fetal outcomes in the first and second trimesters of pregnancy to clarify the advantage of early screening. From January 2013 to June 2018, 230 fetuses were diagnosed with congenital heart malformations using ultrasound method in Qilu Hospital of Shandong University, and divided into 2 groups:the first trimester fetuses (group A) and the second trimester fetuses (group B). In addition, we collected and organized medical data of 347 cases diagnosed with congenital heart disease during 1998 to 2005 (group C). We compared the s...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
Conclusions: Our study showed a higher incidence of autoimmune diseases in TS, which is in line with the literature; however, the impact of iXq, or spontaneous / inducted puberty was not confirmed.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
One of the most important principles in medicine is that early detection improves healthcare outcomes. Although this mantra applies across specialties and diagnoses, it is especially critical in patients with Turner syndrome. Patients with Turner syndrome have increased risks of a number of health issues including, but not limited to, liver dysfunction, metabolic disorders, hypothyroidism, hearing loss, ocular abnormalities, short stature and skeletal anomalies, cardiovascular disease and cardiac malformations, and primary ovarian insufficiency and dysgenesis.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Reflections Source Type: research
Authors: Peticolas K, Khairat S, Seashore C, Law J Abstract In 2015, a pediatric endocrinologist designed a progress note in an electronic health record (EHR) system to improve adherence to clinical practice guidelines for pediatric patients with Turner Syndrome. In 2018, to improve upon the note template, a flowsheet containing embedded decision support content from an international guideline was designed and implemented with help from a general pediatrician who was also an Epic Physician Builder. The flowsheet allowed for the creation of discrete data elements for improved consistency and enhanced reporting. The ...
Source: Studies in Health Technology and Informatics - Category: Information Technology Tags: Stud Health Technol Inform Source Type: research
Turner syndrome (TS) is one of the most common sex chromosomal disorders affecting 25 to 50 females out of 100,000 females (1). Most women with TS are infertile because of an accelerated depletion of ovarian follicles causing premature ovarian insufficiency (POI). Among all main characteristics of TS, including short stature, cardiovascular malformations and hearing problems, women with TS report that POI and infertility are the greatest challenges that they face (2). The inability to have biological children remains a central source of pain and hardship for TS women of all ages across their lifespan (2).
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Fertile battle Source Type: research
Publication date: Available online 23 July 2019Source: Stem Cell ResearchAuthor(s): Aleksey Y. Domozhirov, John L. Mazzilli, Rick A. Wetsel, Eva M. ZsigmondAbstractMonosomy of chromosome X is associated with high prenatal mortality of female embryos and severe developmental abnormalities of patients born with Turner's syndrome (45,XO). The CDMLe012-A-1 human embryonic stem cell (hESC) line, derived from a day six blastocyst with a normal 46,XX female karyotype spontaneously lost an X-chromosome during cell culture. This 45,XO karyotype was stably maintained for more than 55 passages. Since the CDMLe012-A-1 cells express pl...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Turner syndrome (45,X), accounts for 1 –2% of conceptions which typically miscarry early in the first trimester. Cases detected prenatally often present with cystic hygroma, which is an ultrasound marker for an...
Source: Italian Journal of Pediatrics - Category: Pediatrics Authors: Tags: Case report Source Type: research
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