Results 31 to 40 of about 137,635 (266)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

A de novo variant of RERE was identified in a patient with neurodevelopmental disorder, enuresis and scoliosis

Scientific Reports
The RERE-related disorders are featured by neurodevelopmental problems with or without anomalies of the eyes, heart, kidneys, and genitourinary tract and hearing loss.
Tian’e Cai, Cuiyun Li, Liting Chen, Hui Zeng, Chunjiao Lu, Ying Yu   +5 more
doaj   +1 more source

Mothers’ Body Appreciation and Postpartum Self-Esteem in Relation to Body Changes and Breastfeeding Difficulties: A Cross-Sectional Survey in Cyprus

Nursing Reports
Objectives: This study explores the effect of pregnancy weight gain, acceptance of body changes, and breastfeeding difficulties on mothers’ self-esteem and body appreciation during the postpartum period.
Anastasia Kalli, Maria Iliadou, Ermioni Palaska, Sevasti Louverdi, Calliope Dagla, Eirini Orovou, Maria Dagla   +6 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

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

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +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

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