Results 161 to 170 of about 120,079,059 (280)

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Uncertainty in illness of patients with panic disorder for first vist to psychiatry department and its influencing factors

Huli yanjiu, 2020
WU Jiaxin, LUO Xiaoqi, LIU Lifang
doaj  

Relationship Between Illness Uncertainty and Family Resilience Among Caregivers of Stroke Patients in Chinese Nuclear Families: The Mediating Role of Perceived Stress

Patient Preference and Adherence
Qian Li,1,2 Caifeng Luo,1 Jianqin Ye,3 Zekun Bian,1 Weiyi Sun,1 Man Zhou,4 Mingzhu Rong4 1School of Medicine, Jiangsu University, Zhenjiang, Jiangsu, People’s Republic of China; 2Department of Neurosurgery, Xiangcheng People’s Hospital, Suzhou, Jiangsu ...
Li Q, Luo C, Ye J, Bian Z, Sun W, Zhou M, Rong M   +6 more
doaj  

Atypical X‐Linked Severe Combined Immunodeficiency in a Patient With Early‐Onset Inflammatory Bowel Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Primary immunodeficiency disorders may present with gastrointestinal inflammation resembling inflammatory bowel disease (IBD), particularly in patients with pediatric or very‐early‐onset disease. We report a 24‐year‐old male with lifelong immune dysregulation and early‐onset IBD who was ultimately found to carry a hemizygous intronic IL2RG ...
Agustina Fainguersch, Jennah Foltz, Theodore E. Wilson, Sydney A. Lau, Xiaonan Zhao, Casey A. Thornton, Morgan Driver, Jay Jun‐Hong Jin, Jean P. Molleston, Xiaoyi Zhang   +9 more
wiley   +1 more source

The Psychological Journey of Patients with Atrophic Acne Scarring: A Qualitative Study Based on Uncertainty in Illness Theory. [PDF]

Clin Cosmet Investig Dermatol
Li M, Li M, Wei J, Zhou L, Zhu Y, Yang K, Li S, Li Q, Li H.   +8 more
europepmc   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source

Stroke recurrence, uncertainty in illness, and self-efficacy as predictors of post-stroke depression in Korean survivors: a cross-sectional study. [PDF]

BMC Psychol
Lee JG, Lee I.
europepmc   +1 more source

Prenatal Detection of Arthrogryposis Multiplex Congenita, Present State and Future Perspectives

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of conditions characterized by congenital contractures in at least two different body regions. Despite increasingly widespread prenatal ultrasound screening, prenatal detection rates for AMC remain disappointingly low, with fewer than half of affected fetuses diagnosed before ...
Arda Arduç, Jill K. Tjon, Ingeborg H. Linskens, Nienke Kok, Julia Slootbeek, Maria B. Tan‐Sindhunata, Harold van Bosse, Sara Lemin, Isabel Filges, Klaus Dieterich, Remco Jansen, Ani Samargian, Victoria Castillo‐Sánches, Judith G. Hall, Johanna I. P. de Vries   +14 more
wiley   +1 more source

Transition From Primary to Secondary School: Igniting Attendance and Engagement Among Aboriginal and Torres Strait Islander Students Through National Policy Reform

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's Closing the Gap reform aims to address disparities experienced by Aboriginal and Torres Strait Islander peoples. There are specific targets focussed on key educational transitions; yet, the transition to secondary education is not a targeted priority.
Azhar Hussain Potia, Kai W. Wheeler, Tracy Woodroffe, Karen Thorpe   +3 more
wiley   +1 more source