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Parental mosaicism in de novo neurodevelopmental diseases.

Am J Med Genet A 2021 Apr 14. Epub 2021 Apr 14.

Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, China.

Neurodevelopmental diseases are increasingly recognized to be caused by "de novo" variants with the expanding use of next-generation sequencing. The apparent de novo variants may actually be low-level hereditary parental mosaic variants, which could increase the recurrence risk of disease by >50% and is thought to be an underappreciated cause of neurodevelopmental diseases. Our study aimed to investigate the frequency of parental mosaicism in "de novo" neurodevelopmental diseases. Read More

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Knowledge, stigma and health-seeking behavior of patients co-infected with HIV and tuberculosis in Jakarta.

Enferm Clin 2021 Apr;31 Suppl 2:S291-S295

Faculty of Nursing Universitas Indonesia, Depok, West Java, Indonesia.

The purpose was to identify knowledge and TB stigma, as well as its relationship with health-seeking behavior in HIV and TB co-infection patients. A cross-sectional study was conducted with 115 HIV and TB co-infection patients who visited the VCT Polyclinic in five hospitals in Jakarta. This study was using instruments: Brief HIV-Knowledge Questionnaire (HIV-KQ-18), Knowledge TB survey Questionnaire, Berger HIV stigma Scale, Tuberculosis-Related Stigma Scale. Read More

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Social support networks of adults with sickle cell disease.

J Genet Couns 2021 Apr 12. Epub 2021 Apr 12.

Social Network Methods Section, Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD, USA.

Sickle cell disease (SCD) can cause both physical and psychological complications, such as severe pain and depression. These effects often necessitate social and caregiving support. Few studies have assessed support networks within the adult SCD population. Read More

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A population-based study of self-reported adverse drug events among Lebanese outpatients.

Sci Rep 2021 Apr 12;11(1):7921. Epub 2021 Apr 12.

INSPECT-LB: National Institute of Public Health, Clinical Epidemiology and Toxicology, Beirut, Lebanon.

There is a limited number of studies assessing the epidemiology of Adverse Drug Events (ADEs) in the outpatient setting, especially those that do not result in healthcare use. The primary objective of this study was to assess the prevalence and determinants of self-reported ADEs among Lebanese outpatients. It was a cross-sectional observational study performed among Lebanese outpatients visiting community pharmacies across Lebanon. Read More

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Sociodemographic Characteristics, HIV-Related Risk Behaviors and HIV preva-lence of Vulnerable Men in Tehran, Iran.

Curr HIV Res 2021 Apr 11. Epub 2021 Apr 11.

Department of Health Informatics, Graduate School of Medicine, Kyoto University, Kyoto. Japan.

Background: Sexual minorities, such as men who have sex with men (MSM), are dis-proportionately impacted by HIV/AIDS compared to heterosexual men . The increased prevalence of HIV/AIDs among this group of individuals is associated with increased participation in HIV-related risk behavior, such as multiple sexual partnerships and in-jection drug use. However, very little is known about the prevalence of HIV and the risk behaviors related to HIV infection among MSM in Iran. Read More

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Utility of preoperative labs in posterior spinal fusions for idiopathic scoliosis.

Spine Deform 2021 Apr 12. Epub 2021 Apr 12.

Department of Orthopaedic Surgery, St Louis Children's Hospital, Washington University School of Medicine, 1 Children's Place, Suite 4S60, Saint Louis, MO, 63110, USA.

Purpose: Review of 216 consecutive idiopathic scoliosis (IS) patients undergoing posterior spinal fusion (PSF) demonstrated 94.9% having abnormal lab values, but only 3.9% were referred for further evaluation. Read More

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An immunohistochemical panel of three small ubiquitin-like modifier genes predicts outcomes of patients with triple-negative breast cancer.

Gland Surg 2021 Mar;10(3):1067-1084

Department of Breast Surgery, Fujian Medical University Union Hospital, Fuzhou, China.

Background: Triple-negative breast cancer (TNBC) is a highly heterogeneous and aggressive disease. Developing new candidate biomarkers for chemotherapy response and possible therapeutic targets has become an urgent clinical need. Small ubiquitin-like modifiers (SUMOs) mediate post-translational modifications (SUMOylation) has been shown to be involved in numerous biological processes. Read More

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Impulsivity, Social Support and Depression Are Associated With Latent Profiles of Internet Addiction Among Male College Freshmen.

Front Psychiatry 2021 25;12:642914. Epub 2021 Mar 25.

Department of Clinical Epidemiology, Shengjing Hospital of China Medical University, Shenyang, China.

The rate of internet addiction is increasing in college students. The first year at college is a particularly vulnerable period for internet addiction. Students' psychological characteristics are likely to play an important role in internet addiction. Read More

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Obesity and no call results: optimal timing of cell-free DNA testing and redraw.

Am J Obstet Gynecol 2021 Apr 8. Epub 2021 Apr 8.

Department of Obstetrics and Gynecology, University of Pennsylvania Perelman School of Medicine, Divisions of Reproductive Genetics and Maternal Fetal Medicine, Philadelphia, PA.

Background: Fetal fraction of cell free DNA decreases with increasing maternal weight. Consequently, cell-free DNA screening for fetal aneuploidy has higher screen failures or "no call" rates in women with obesity due to a low fetal fraction. The optimal timing of testing based on maternal weight is unknown. Read More

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"Far More than Just a Prescription": Focus Groups With U.S. Family Planning Providers and Staff About Integrating PrEP for HIV Prevention Into Their Work.

Womens Health Issues 2021 Apr 7. Epub 2021 Apr 7.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California San Francisco, San Francisco, California.

Background: Cisgender women in the United States use pre-exposure prophylaxis (PrEP) for HIV prevention at lower rates relative to other groups. Advocacy groups and patients identify family planning clinics as the preferred sites to lead PrEP implementation for women in the United States. However, limited qualitative exploration exists of U. Read More

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"Since I'm a little bit more mature": contraception and the arc of time for women in midlife.

Womens Midlife Health 2021 Apr 9;7(1). Epub 2021 Apr 9.

Vanderbilt University, Nashville, USA.

Background: Contraceptive methods have rapidly evolved over the past several decades, but little research has explored how women interact with contraception over time. Exploring contraceptive beliefs, perceptions, and attitudes of women in midlife can reveal much about how lived experience affects contraceptive decisions and reproductive health choices.

Methods: Individual, semi-structured interviews were conducted with 20 women between the ages of 40 and 55 who had not reached menopause and did not have a permanent method of sterilization. Read More

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HIV voluntary counseling and testing uptake and associated factors among Ethiopian youths: evidence from the 2016 EDHS using multilevel modeling.

BMC Infect Dis 2021 Apr 9;21(1):334. Epub 2021 Apr 9.

College of Natural & Computational Sciences, Department of Statistics, Addis Ababa University, Addis Ababa, Ethiopia.

Background: Existing evidence showed that Human Immunodeficiency Virus counselling and testing uptake among Ethiopian youths is low, and factors contributing to it are not well studied. Therefore, this study aims to assess the status of uptake and identify its determinants using the 2016 Ethiopia Demographic and Health Survey data.

Method: Data of 10,903 Ethiopian youths were extracted from the 2016 Ethiopian Demographic and Health Survey. Read More

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Comparison of HIV-Positive Incidence Among Transgender Women and Men Who Have Sex with Men at Stand-Alone and Mobile Voluntary Counseling and Testing Facilities in Chiang Mai Province, Thailand.

AIDS Patient Care STDS 2021 Apr;35(4):116-125

Department of Statistics, Faculty of Science, Chiang Mai University, Chiang Mai, Thailand.

Human immunodeficiency virus (HIV) infection is still a major cause of death in Thais and new cases of infection are still emerging among the key population comprising men who have sex with men (MSM), sex workers and their clients, and transgender women (TGW) and people who inject drugs. The objective of this study was to compare the incidence of HIV infection between MSM and TGW who were tested at stand-alone and mobile HIV voluntary counseling and testing (VCT) centers and to identify factors associated with HIV-positive individuals from the two services. We conducted an observational study using MSM and TGW individuals with unknown HIV status from the databases at a stand-alone center and a mobile VCT belonging to the MPlus in Chiang Mai province, Thailand. Read More

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Professional quality of life and perceptions of spirituality and spiritual care among nurses: Relationship and affecting factors.

Perspect Psychiatr Care 2021 Apr 8. Epub 2021 Apr 8.

Department of Nursing Education, Faculty of Health Sciences, Izmir Katip Celebi University, Izmir, Turkey.

Purpose: This study aims to determine the relationship of nurses' perception of spirituality and spiritual care to the dimensions of professional quality of life, namely, nurses' compassion fatigue, burnout and compassion satisfaction, and identify the influencing factors, respectively.

Design And Methods: The population consisted of 316 nurses (response rate: 91.32%) working in various clinics of a Training and Research Hospital (gynecology, pediatrics, surgery, internal medicine and emergency service) between December 2018 and May 2019. Read More

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Team-Based Care of Women With Cardiovascular Disease From Pre-Conception Through Pregnancy and Postpartum: JACC Focus Seminar 1/5.

J Am Coll Cardiol 2021 Apr;77(14):1763-1777

Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.

The specialty of cardio-obstetrics has emerged in response to the rising rates of maternal morbidity and mortality related to cardiovascular disease (CVD) during pregnancy. Women of childbearing age with or at risk for CVD should receive appropriate counseling regarding maternal and fetal risks of pregnancy, medical optimization, and contraception advice. A multidisciplinary cardio-obstetrics team should ensure appropriate monitoring during pregnancy, plan for labor and delivery, and ensure close follow-up during the postpartum period when CVD complications remain common. Read More

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Outcomes of Women Undergoing Excision of the Retained Cervix After Supracervical Hysterectomy.

Obstet Gynecol 2021 Apr 8. Epub 2021 Apr 8.

Johns Hopkins Hospital, Baltimore, Maryland; the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania; and the Kelly Gynecologic Oncology Service, Johns Hopkins School of Medicine, Baltimore, Maryland.

Objective: To characterize the indications for and complication rates of excision of the retained cervix after supracervical hysterectomy.

Methods: We performed a retrospective cohort study of women undergoing excision of the retained cervix after supracervical hysterectomy in the 2010-2014 National Inpatient Sample. International Classification of Diseases, Ninth Revision codes were used to identify indication for the procedure and surgical complications. Read More

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Associations between weight-based teasing and disordered eating behaviors among youth.

Eat Behav 2021 Mar 29;41:101504. Epub 2021 Mar 29.

Section on Growth and Obesity, Division of Intramural Research Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD 20892, USA.

Weight-based teasing (WBT) is commonly reported among youth and is associated with disinhibited and disordered eating. Specifically, youth who experience WBT may engage in disordered eating behaviors to cope with the resultant negative affect. Therefore, we examined associations between WBT and disordered eating behaviors among youth and assessed whether negative affect mediated these relationships. Read More

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Hypospadias induced by medications and environmental exposures- A scoping review.

J Pediatr Urol 2021 Jan 21. Epub 2021 Jan 21.

Adelson School of Medicine, Ariel University, Israel.

Objectives: Hypospadias is a congenital birth defect affecting around one in every 300 male infants, characterized by incomplete fusion of the urethralfold.Our objective was to identify drug and chemical exposure in pregnancy associated with increased risk for hypospadias.

Methods: We conducted a scoping review of studies of drugs and chemicals associated with hypospadias by searching Medline, EMBASE, Cochrane, Google and Google Scholar from inception to October 9, 2020 in any language. Read More

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January 2021

Delayed breast feeding initiation increases the odds of colostrum avoidance among mothers in Northwest Ethiopia: a community-based cross-sectional study.

Arch Public Health 2021 Apr 7;79(1):44. Epub 2021 Apr 7.

Department of Epidemiology and Biostatistics, Institute of Public Health, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.

Background: Colostrum is a yellowish and sticky breast milk produced in late pregnancy. Annually, 60% of 10.9 million under-five deaths globally are due to malnutrition. Read More

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Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China.

BMC Med Genomics 2021 Apr 7;14(1):97. Epub 2021 Apr 7.

Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, 563000, Guizhou, China.

Background: α-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations of α-globin gene aberration for genetic counseling, we examined the prevalence of the α-globin triplication and the genotype-phenotype correlation in this subpopulation METHODS: A cohort of 7644 subjects was selected from nine ethnicities covering four regions in Guizhou province of China. Peripheral blood was collected from each participant for routine blood testing and hemoglobin electrophoresis. Read More

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Reducing stigma associated with mental health problems among university students in the Asia-Pacific: A video content analysis of student-driven proposals.

Int J Soc Psychiatry 2021 Apr 7:207640211007511. Epub 2021 Apr 7.

Department of Social Work and Social Administration, University of Hong Kong, China.

Introduction: Studies have demonstrated that mental health problems among university students may be increasing in both prevalence and severity. This study aimed to identify ways to reduce stigma and improve students' utilization of mental health services.

Methods: We performed a content analysis on video proposals to address stigma and mental health at universities, submitted by 15 teams from nine Asian-Pacific countries as part of a case competition. Read More

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Long-read sequencing identified a novel nonsense and a de novo missense of PPA2 in trans in a Chinese patient with autosomal recessive infantile sudden cardiac failure.

Clin Chim Acta 2021 Apr 4. Epub 2021 Apr 4.

Department of Cardiology, Children's Hospital of Soochow University, 92 Zhongnan Street, Suzhou Industrial Park, Suzhou 215025, Jiangsu, China. Electronic address:

Background And Aims: Biallelic missense variants in PPA2 gene cause infantile sudden cardiac failure (SCFI; OMIM #617222) characterized by sudden cardiac failure, sudden cardiac death in infants. Here, we present an unusual survivor with one inherited plus one de novo variant in PPA2. Since next-generation sequencing (NGS) fails to resolve variant phasing, which require long-read sequencing to clarify the diagnosis. Read More

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Audit of sweat chloride testing reveals analytical errors.

Clin Chem Lab Med 2021 Apr 7. Epub 2021 Apr 7.

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Objectives: Sweat chloride testing (SCT) is the mainstay for the diagnosis of cystic fibrosis (CF) and biomarker in the evaluation of CFTR-modifying drugs. To be a reliable and valid tool, analytical variance (CVA) must be minimized. However, external quality assessments have revealed significant deviations in routine clinical practice. Read More

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Predictors of preterm birth in Western Ethiopia: A case control study.

PLoS One 2021 7;16(4):e0247927. Epub 2021 Apr 7.

School of Medicine, Institute of Health sciences,Wollega University, Nekemte, Ethiopia.

Background: Early neonatal death caused by preterm birth contributes the most for perinatal death. The prevalence of preterm birth continues to rise and is a significant public health problem. The exact cause of preterm birth is yet unanswered, as mostly preterm birth happens spontaneously. Read More

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Patients' and professionals' perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic.

Genet Med 2021 Apr 6. Epub 2021 Apr 6.

Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.

Purpose: To identify predictors of patient acceptance of non-in-person cancer genetic visits before and after the COVID-19 pandemic and assess the preferences of health-care professionals.

Methods: Prospective multicenter cohort study (N = 578, 1 February 2018-20 April 2019) and recontacted during the COVID-19 lockdown in April 2020. Health-care professionals participated in May 2020. Read More

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Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic.

Genet Med 2021 Apr 6. Epub 2021 Apr 6.

St George's University of London, Department of Academic Primary Care, London, UK.

Purpose: The COVID-19 pandemic has forced reorganization of clinical services to minimize face-to-face contact between patients and health-care providers. Specialist services, including clinical genetics, must consider methods of remote delivery including videoconferencing-termed telegenetics. This review evaluates the evidence for telegenetics and its applicability to future service development. Read More

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Clinical Practice Guideline: Opioid Prescribing for Analgesia After Common Otolaryngology Operations Executive Summary.

Otolaryngol Head Neck Surg 2021 Apr;164(4):687-703

American Academy of Otolaryngology-Head and Neck Surgery Foundation, Alexandria, Virginia, USA.

Objective: Opioid use disorder (OUD), which includes the morbidity of dependence and mortality of overdose, has reached epidemic proportions in the United States. Overprescription of opioids can lead to chronic use and misuse, and unused narcotics after surgery can lead to their diversion. Research supports that most patients do not take all the prescribed opioids after surgery and that surgeons are the second largest prescribers of opioids in the United States. Read More

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Clinical Practice Guideline: Opioid Prescribing for Analgesia After Common Otolaryngology Operations.

Otolaryngol Head Neck Surg 2021 Apr;164(2_suppl):S1-S42

American Academy of Otolaryngology-Head and Neck Surgery Foundation, Alexandria, Virginia, USA.

Objective: Opioid use disorder (OUD), which includes the morbidity of dependence and mortality of overdose, has reached epidemic proportions in the United States. Overprescription of opioids can lead to chronic use and misuse, and unused narcotics after surgery can lead to their diversion. Research supports that most patients do not take all the prescribed opioids after surgery and that surgeons are the second largest prescribers of opioids in the United States. Read More

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