Results 111 to 120 of about 117,944 (273)

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Study on the efficacy of compound porcine cerebroside and ganglioside injection in patients with ischemic stroke: A randomized, single‐center, open‐label, prospective study

Ibrain, EarlyView., 2023
Compound porcine perebroside and ganglioside injection (CPCGI) was used to treat ischemic stroke. However, there was no clinical evidence of low‐dose CPCGI. We conducted a clinical study to analyze whether the clinical results of low‐dose and standard‐dose CPCGI in patients with ischemic stroke were different.
Ya Chen, Xia Zhang, Hai‐Qing Zhang, Zhong Luo, Xue‐Jiao Zhou, Tao Liang, Fei Yang, Jun Zhang, Zu‐Cai Xu   +8 more
wiley   +1 more source

Pregnancy Associated with Systemic Lupus Erythematosus: Immune Tolerance in Pregnancy and Its Deficiency in Systemic Lupus Erythematosus—An Immunological Dilemma

Journal of Immunology Research, 2015
Pregnancy is a physiological condition that requires immune tolerance to the product of conception. Systemic lupus erythematosus (SLE) is a disease with well-represented immune mechanisms that disturb immune tolerance.
Cristina Gluhovschi, Gheorghe Gluhovschi, Ligia Petrica, Silvia Velciov, Adrian Gluhovschi   +4 more
doaj   +1 more source

Treatment of the vaginal disbiotic disorders in pregnant women before delivery

Медицинский совет, 2019
The urgency of the problem of vaginal infection is determined by its highest prevalence in the structure of obstetric-gynecological morbidity.
V. L. Tyutyunnik, A. A. Balushkina, A. A. Mikhailova, N. E. Kan   +3 more
doaj   +1 more source

Costs and health consequences of chlamydia management strategies among pregnant women in sub-Saharan Africa [PDF]

Objectives: Chlamydia is the most common bacterial sexually transmitted infection worldwide and a major cause of morbidity – particularly among women and neonates.
Hjortdahl, Per, Hussein, Fatrima, Kristiansen, Ivar Sønbø, Romoen, Maria, Steen, Tore W., Sundby, Johanne, Velauthapillai, Manonmany   +6 more
core  

Concomitant contraceptive implant and efavirenz use in women living with HIV: perspectives on current evidence and policy implications for family planning and HIV treatment guidelines. [PDF]

, 2017
IntroductionPreventing unintended pregnancies is important among all women, including those living with HIV. Increasing numbers of women, including HIV-positive women, choose progestin-containing subdermal implants, which are one of the most effective ...
Cohen, Craig R, Kiarie, James, Morroni, Chelsea, Patel, Rena C, Scarsi, Kimberly K, Sripipatana, Tabitha   +5 more
core   +2 more sources

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

Analysis of Pregnancy, Labor and Perinatal Outcomes of Women Infected with Human Immunodeficiency Virus (HIV) Infection

Медицинский вестник Юга России, 2011
Purpose: To estimate the influence of human immunodeficiency virus (HIV) infection on pregnancy, childbirth and neonatal status.Materials and Methods: In total, 54 pregnant women infected with HIV-infection (study group).
A. N. Rymashevsky, A. E. Volkov, M. L. Babaeva, A. V. Oprujenkov   +3 more
doaj  

Congenital Syphilis Prevention Challenges, Pacific Coast of Colombia, 2018–2022

Emerging Infectious Diseases
High incidences of congenital syphilis have been reported in areas along the Pacific coast of Colombia. In this retrospective study, conducted during 2018–2022 at a public hospital in Buenaventura, Colombia, we analyzed data from 3,378 pregnant women ...
Jose F. Fuertes-Bucheli, Diana P. Buenaventura-Alegría, Adriana M. Rivas-Mina, Robinson Pacheco-López   +3 more
doaj   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source