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Turner Syndrome - PubMed

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Last Updated: 09 August 2022

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Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome.

Fragile X and Turner syndromes are X-chromosome-associated disorders. Attention-deficit/hyperactivity, and anxiety disorders: We provide the case of a girl in middle childhood with bicuspid aortic valve in infancy, growth retardation, global developmental delay, visual impairment, and coexisting attention deficit/hyperactivity and anxiety disorders. This case report shows the importance of additional genetic testing in individuals with atypical variant TS, such as unexplained GDD and distinct facial features.

Source link: https://doi.org/10.1136/bcr-2021-247901


Cell-Free DNA Screening Positive for Monosomy X: Clinical Evaluation and Management of Suspected Maternal or Fetal Turner Syndrome.

As an alternative to serum analytes and nuchal translucency testing for pregnancy screening at Trisomy 21 (also known as noninvasive prenatal screening), can now screen for fetal sex anomalies such as monosomy X as early as 9 to ten weeks of gestation. However, cfDNA testing for SCAs and monosomy X in particular is associated with high false positive rates and low positive predictive value, respectively. A positive screen for monosomy X with discordant results of diagnostic fetal karyotype raises new interpretation and management challenges due to the possibility of previously undiagnized maternal Turner syndrome, which could have been unrecognized maternal Turner syndrome. The new international consensus clinical practice guidelines for the care of people with TS throughout the lifespan do not specifically focus on the care of people with a cfDNA test positive for monosomy X.

Source link: https://doi.org/10.1016/j.ajog.2022.07.004


Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).

Turner syndrome is a rare disorder in which one or part of one X chromosome is missing from some or all cells. Karyotypes with an X isochromosome, a Y chromosome, X ring chromosome, X ring chromosome, or deletions of the X chromosome are less frequent. Based on a critical literature review and multidisciplinary consensus, the French National Diagnosis and Care Protocol's goal is to provide health professionals with reports about patients's optimal management and care. From the French Health Authority website, the PNDS, written by members of the French National Reference Center for Rare Growth and Developmental Endocrine disorders, is available. Turner Syndrome is linked to a variety of phenotypic disorders and a higher risk of comorbidity. Multiple healthcare professionals can collaborate to provide patients with TS. The success of patients with TS requires collaboration among several healthcare providers.

Source link: https://doi.org/10.1186/s13023-022-02423-5


COVID-19 Vaccine-Induced Parsonage-Turner Syndrome: A Case Report and Literature Review.

Both modern vaccines have the danger of neurological adverse effects. To date, only a few cases of Parsonage-Turner syndrome, unusual peripheral nerve disorder related to coronavirus disease 2019 immunization, have been reported. We discuss a case of COVID-19 vaccine-incited PTS in the context of a brief literature review. For one hour, a 78-year-old male non-smoker with a medical history of coronary artery disease suffered with non-exertional, persistent chest pain for one hour, and the first signs of bilateral hand weakness for three days. The patient received a second dose of the BNT162b2 COVID-19 vaccine, which was administered 21 days after the first dose was administered 21 days after the first dose. Physical examination revealed a significant deficit in right-hand grip and wrist flexion. There were no other motor deficits, upper motor neuron signs, bulbar vulnerability, or sensory deficits. The diagnostic investigations for the underlying diabetes mellitus, infections, or other autoimmune diseases was negative. PTS was shown by decreased motor unit recruitment in the bilateral first dorsal interosseous and right deltoid, biceps, and triceps muscles, according to nerve conduction studies, which included needle electromyography. To maintain range of motion and daily living, the patient was provided with 40 mg/day of oral prednisone and occupational therapy to maintain mobility and daily activities. PTS is also known as neuralgic plexus neuritis, brachial plexus neuritis, brachial plexopathy, brachial plexopathy, and shoulder-girdle syndrome. PTS can be classified as non-hereditary or inheritance. Similar events occurred after the COVID-19 epidemic and the start of a global immunization campaign. Presently there is no validated or outright measure that definitively confirms or excludes PTS itself.

Source link: https://doi.org/10.7759/cureus.25493


DNA Hypermethylation and a Specific Methylation Spectrum on the X Chromosome in Turner Syndrome as Determined by Nanopore Sequencing.

Turner syndrome's molecular genetic code remains a mystery to be figured out. For the first time, TS was investigated by nanopore sequencing and trio-whole exome sequencing. The trial included thirteen TS patients and eight controls. Except for X chromosome deletion, Trio-WES did not find any infectious or likely pathogenic variants other than X chromosome deletion. ChrX's average methylation levels and patterns were similar in 45X0 and 46XY, and they were noticeably higher than in 46XX. Conclusions: The results indicate that the methylation profile in patients with TS may be determined by the number of X chromosomes; in fact, the methylation profiles in TS were precisely linked to genomic stability and gene expression;.

Source link: https://doi.org/10.3390/jpm12060872


Turner Syndrome and Fertility.

Females with TS are usually treated with female sex steroids from 11-12 years of age to the normal age of natural menopause, which is about 53 to 54 years old. In several countries, Oocyte donation has become the common option and seems to have been successful, particularly if patients have been treated with optimal estrogen and gestagen for a long time before the intervention. It comes at an elevated risk of cardiovascular disease and TS oocyte donation pregnancies, which necessitate increased vigilance. Ovarian tissue cryopreservation is one of the latest methods that have been used safely in children with cancer. The ovaries are likely to show similar changes in DNA methylation and RNA expression in blood from individuals with TS. The genetics and genomics behind the ovarian dysgenesis seen in TS are not understood, but new studies have elucidated global changes in DNA methylation and RNA expression in blood from people with TS, and it is likely that similar changes are present in the ovaries.

Source link: https://doi.org/10.1016/j.ando.2022.06.001


DNA Methylation Analysis of Turner Syndrome BAV.

BAV is also the most common congenital heart disease in the general population, with a hazard rate of 0. 5 percent in males. Comparing TS BAV, TAV, and non-syndromic BAV, we found significant differences in DNA methylation patterns associated with BAV in peripheral blood. We found a marginally methylated region encompassing the BAV-associated gene MYRF and BAV-associated gene MYRF, as well as enrichment of two well-known transcription factor contributors to BAV. When comparing TS with BAV to euploid women with BAV, we found significant overlap between ChIP-seq transcription factor genes such as those involved in the etiology of non-syndromic BAV and other genes that are key regulators of heart valve development.

Source link: https://doi.org/10.3389/fgene.2022.872750


Parsonage-Turner Syndrome mimicking musculoskeletal shoulder pain: A case report during the SARS-CoV-2 pandemic era.

Parsonage-Turner Syndrome, or neuralgic amyotrophy, is a peripheral neuropathy commonly associated with an abrupt onset of pain followed by progressive neurological abnormalities of the upper limb, mainly the shoulder, encompassing a wide variety of clinical signs that are otherwise impossible to recognize. This case report details the proper handling of a 35-year-old bank employee and sports amateur who complained of subtle and progressive upper limb pains with a previous history of neck pain. Patients' access to the healthcare system became more limited during the SARS-CoV-2 pandemic period, making patient access to the healthcare system more difficult.

Source link: https://doi.org/10.1177/1357633X221100059

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions