Results 31 to 40 of about 14,133 (214)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

‘I Don't Babysit’: Stay‐at‐Home Dads' Perspectives and Experiences Within Australian Society

Australian Journal of Social Issues, EarlyView.
ABSTRACT Stay‐at‐home‐dads are an emerging group in Australia, impacted by societal assumptions and expectations. However, there is a scarcity of research on the perspectives and experiences of fathers assuming stay‐at‐home dad roles within Australian society.
Elyse Manie, Patricia Taylor, Hayley McKenzie, Norma Barrett   +3 more
wiley   +1 more source

ANK1 and EPB41 Variants and the Risk of Steroid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

Associations Between Comorbidities, Developmental Status, and Disease Severity in Children With Autism Spectrum Disorder: A Multicenter Cross‐Sectional Study in China

Autism Research, EarlyView.
ABSTRACT Children with autism spectrum disorder (ASD) frequently present with co‐occurring conditions that can influence autism symptom severity and complicate clinical management. However, studies with clinician‐confirmed diagnoses in non‐Western populations remain limited.
Dizhou Pang, Guiqin Duan, Qing Shang, Huichun Zhang, Binbin Wang, Huaili Ding, Huihui Kang, Yue Zhao, Yuxia Lu, Gai Tian, Li Zhang, Wu Jiang, Ganyu Wang, Cailing Liang, Lingling Zhang, Bingbing Li, Zhenghua Li, Chunlan Song, Yanyan Yang, Yazhe Wang, Kaichen Yue, Yongbin Lang, Jiatian Liu, Xiaoli Zhang, Yiran Xu, Changlian Zhu   +25 more
wiley   +1 more source

Psychological Impact of Autism Screening on Caregivers

Autism Research, EarlyView.
ABSTRACT Autism screening in childhood is common, yet little is known about its potential psychological impact on caregivers. The U.S. Preventive Services Task Force, an independent national panel of disease prevention experts, stated that this gap in knowledge limited their ability to endorse universal autism screening.
Ramkumar Aishworiya, Devon Gangi, Van Kim Ma, Chandni Parikh, Nor Azyati Yusoff, Narueporn Likhitweerawong, Sally Ozonoff   +6 more
wiley   +1 more source