The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans.

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans. Biomed Res Int. 2019;2019:9797104 Authors: Paththinige CS, Sirisena ND, Kariyawasam UGIU, Dissanayake VHW Abstract Translocations are the most common type of structural chromosomal abnormalities. Unbalanced translocations are usually found in children who present with congenital abnormalities, developmental delay, or intellectual disability. Balanced translocations are usually found in adults who frequently present with reproductive failure; either subfertility, or recurrent pregnancy loss. Herein, we report the spectrum and frequency of translocations in a Sri Lankan cohort. A database of patients undergoing cytogenetic testing was maintained prospectively from January 2007 to December 2016 and analyzed, retrospectively. A total of 15,864 individuals were tested. Among them, 277 (1.7%) had translocations. There were 142 (51.3%) unbalanced translocations and 135 (48.7%) balanced translocations. Majority (160; 57.8%) were Robertsonian translocations. There were 145 (52.3%) children and adolescents aged less than 18 years with translocations, and 142 (97.9%) were unbalanced translocations. Majority [138 (95.2%)] were referred due to congenital abnormalities, developmental delay, or intellectual disability, and 91 were children with translocation Down syndrome. All adults aged 18 years or above (132) had balanced translocations. Subfertility and recurrent pregnancy loss [84...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research

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Authors: Kuck KH, Phan HL, Tilz RR Abstract The new guidelines for the management of supraventricular tachycardia (SVT) were published by the European Society of Cardiology (ESC) in September 2019. The key message of the guidelines is that catheter ablation should be offered as a first line treatment to most patients during a comprehensive discussion of the risks and advantages. This recommendation recognizes that catheter ablation has nowadays become a widely established, effective and safe treatment method with a very low complication rate, which has revolutionized the treatment of SVT due to the substa...
Source: Herz - Category: Cardiology Tags: Herz Source Type: research
ConclusionsIn skeletal muscle, GSK-3β inactivation causes dephosphorylation and nuclear translocation of TFEB resulting in TFEB-dependent induction of Pgc-1α expression.
Source: Biochimica et Biophysica Acta (BBA) Molecular Cell Research - Category: Molecular Biology Source Type: research
A busy day at UNISON’s LGBT+ conference saw delegates discuss a number of major issues. Mental health was high on the agenda, with Alan Williams for the union’s North West LGBT group saying that there was a “concerningly high rate of suicide attempts by LGBT+ members” and called for more training for reps on the issues. Hannah Stephenson urged delegates to return to their branches and ask their employers for mental ill health training, while a speaker from the North West talked of how “one person with the right information can make all the difference”. She said that research suggests tha...
Source: UNISON meat hygiene - Category: Food Science Authors: Tags: Article News LGBT Source Type: news
This article explores the pathophysiology, identification, and treatment of military se...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Alcohol and Other Drugs Source Type: news
In this study, we have assessed persons on average 16 years after their injury and determined ch...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news
ConclusionPLO has a significant impact on pain, mental state, quality of life, and capacity to work. However, the long-term prognosis is promising. The severe mental distress is presumably related to several contributing factors in life such as physical integrity and independence, family life, employment, and financial security.Key Points• PLO has a strong impact on quality of life and can lead to severe mental distress.• At onset of symptoms, patients with PLO are in very poor mental and physical condition; however, the long-term outcome after inpatient rehabilitation seems to be good.• Most patients do not...
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
AbstractObjectivesThe effect of age on the Health Assessment Questionnaire Disability Index (HAQ-DI) scores of rheumatoid arthritis (RA) patients and the validity of adopting HAQ-DI  3-year treatment under T2T were evaluated. The relationships between the HAQ-DI score at follow-up (HAQ) and 28-joint Disease Activity Score with C-reactive protein, Sharp/van der Heijde Score, age at follow-up, and HAQ-DI at baseline were statistically evaluated with best subset regression analy sis in groups separated according to age and the EULAR response. CDC status was evaluated with a chi-square test.ResultsThe HAQ score signific...
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
Authors: Etemadi A, Amouzegar A, Mehran L, Tohidi M, Azizi F, Moradi K, Delshad H Abstract Objective Thyroid disorders such as subclinical hypothyroidism and isolated maternal hypothyroxinemia are understudied in pregnant women, despite their possible adverse effects on the health of mother and child. Also, the role of iodine deficiency in developing such disorders has not yet been fully understood. Design The present national population-based cross-sectional study was conducted on 1080 randomly recruited pregnant women, aged 20-40 from 12 provinces of Iran from 2013 to 2014. Method Serum concentrations of TSH, T4,...
Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research
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Source: Postgraduate Obstetrics and Gynecology - Category: OBGYN Tags: Article Source Type: research
Publication date: Available online 15 November 2019Source: The Lancet HIVAuthor(s): Paige L Williams, Cenk Yildirim, Ellen G Chadwick, Russell B Van Dyke, Renee Smith, Katharine F Correia, Alexandria DiPerna, George R Seage, Rohan Hazra, Claudia S Crowell, Surveillance Monitoring for ART Toxicities (SMARTT) study of the Pediatric HIV/AIDS Cohort StudySummaryBackgroundPerinatal HIV transmission has substantially decreased with combination antiretroviral regimens, but complications in children who are HIV-exposed but uninfected, such as microcephaly, warrant ongoing surveillance. We aimed to evaluate whether individual in ut...
Source: The Lancet HIV - Category: Infectious Diseases Source Type: research
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