Results 31 to 40 of about 136,946 (266)

Short Stature and Developmental Delay Associated With a Novel Frame‐Shift Mutation in ZNF292: Case Report and Literature Review

Clinical Case Reports
Pathogenic mutations in the ZNF292 gene are a significant genetic cause of Intellectual Developmental Disorder (IDD) in individuals, manifesting with a spectrum of clinical features including mild to severe intellectual impairment, speech delay, and co ...
Li Dongxue, Yao Ruen, Yu Ying, Chen Liting, Wang Jie, Lu Chunjiao, Li Wei, Chen Rikun, Li Cuiyun   +8 more
doaj   +1 more source

Neonatal Encephalopathy: Need for Recognition of Multiple Etiologies for Optimal Management

Frontiers in Pediatrics, 2019
Neonatal encephalopathy (NE) is associated with high mortality and morbidity. Factors predisposing to NE can be antenatal, perinatal, or a combination of both.
Saima Aslam, Saima Aslam, Tammy Strickland, Tammy Strickland, Tammy Strickland, Eleanor J. Molloy, Eleanor J. Molloy, Eleanor J. Molloy, Eleanor J. Molloy, Eleanor J. Molloy   +9 more
doaj   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Self-Reported Physical Activity Behavior and Practice of Healthcare Professionals During the Second and Third Trimester of Pregnancy in Greece

Clinics and Practice
Background/Objectives: The primary aim of the study was to investigate the self-reported behavior and practice of healthcare professionals (midwives and obstetricians) regarding physical activity during the second and third trimesters of pregnancy.
Vasileios Daglas, Nikolaos Kostopoulos, Michalis Mitrotasios, Antigoni Sarantaki, Maria Iliadou, Athanasios Moustogiannis, Maria Dagla, Evangelia Antoniou   +7 more
doaj   +1 more source

Prevalence and associated risk factors of antenatal depression among women attending antenatal clinics in primary health care centers in the Ministry of Health in Al-Ahsa City, Saudi Arabia

Journal of Family Medicine and Primary Care, 2019
Objectives: This study was aimed to measure the prevalence and associated risk factors of antenatal depression (AD) among women attending antenatal clinics at primary care centers in the Ministry of Health in Al-Ahsa, Saudi Arabia. Materials and Methods:
Zahra Al-Hejji, Mohammed Al-Khudhair, Maymonah Al-Musaileem, Mohammed Al-Eithan   +3 more
doaj   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Antenatal description of large 4q13.2q21.23 deletion and outcomes

Molecular Genetics & Genomic Medicine
Background 4q21 microdeletion syndrome is an emergent non‐recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech.
Anna‐Gaëlle Giguet‐Valard, Christelle Thevenin, Sophie Dreux, Valérie Decatrelle, Marie‐Laure Juve, Soraya Yazza, Clara Adenet, Marion Lesueur, Patrice Bouvagnet, Michèle Gueneret   +9 more
doaj   +1 more source

Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome

Frontiers in Genetics
BackgroundThe clinical phenotypes of 16p13.11 microduplication syndrome have been extensively reported in previous studies, mostly about adults and children, with limited information available on fetal cases.
Yan Zhao, Lina Song, Shuxia Zhang, Fei Hou, Shan Shan, Hua Jin   +5 more
doaj   +1 more source

Tobacco and Pituri Use in Pregnancy: A Protocol for Measuring Maternal and Perinatal Exposure and Outcomes in Central Australian Aboriginal Women

Methods and Protocols, 2019
Maternal tobacco smoking is a recognized risk behavior that has adverse impacts on maternal and fetal health. However, in some populations, the use of smokeless tobacco exceeds the use of smoked tobacco.
Angela Ratsch, Kathryn Steadman, BoMi Ryu, Fiona Bogossian   +3 more
doaj   +1 more source

Investigating Health Inequality Using Trend, Decomposition and Spatial Analyses: A Study of Maternal Health Service Use in Nepal

International Journal of Public Health, 2023
Objectives: (a) To quantify the level and changes in socioeconomic inequality in the utilization of antenatal care (ANC), institutional delivery (ID) and postnatal care (PNC) in Nepal over a 20-year period; (b) identify key drivers of inequality using ...
Shehzad Ali, Shehzad Ali, Shehzad Ali, Shehzad Ali, Shehzad Ali, Amardeep Thind, Amardeep Thind, Amardeep Thind, Saverio Stranges, Saverio Stranges, Saverio Stranges, M. Karen Campbell, M. Karen Campbell, M. Karen Campbell, M. Karen Campbell, Ishor Sharma   +15 more
doaj   +1 more source