Results 181 to 190 of about 78,875 (281)

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

The temporal trends of prevalence and years lived with disability of anaemia in China, Japan, and South Korea, from 1990 to 2021: Results from the Global Burden of Disease Study 2021. [PDF]

J Glob Health
Hu J, Song Z, Zhao L, Gonzalez SC, Wang E, Hou X.   +5 more
europepmc   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 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

Improved and standardized method for assessing years lived with disability after burns and its application to estimate the non-fatal burden of disease of burn injuries in Australia, New Zealand and the Netherlands. [PDF]

BMC Public Health, 2020
Spronk I, Edgar DW, van Baar ME, Wood FM, Van Loey NEE, Middelkoop E, Renneberg B, Öster C, Orwelius L, Moi AL, Nieuwenhuis M, van der Vlies CH, Polinder S, Haagsma JA.   +13 more
europepmc   +1 more source

Homelessness Service Usage Patterns of 30,000 Homeless and At‐Risk Households: The Melbourne Access Point Study

Australian Journal of Social Issues, EarlyView.
ABSTRACT Over the last three decades, overseas researchers have utilised administrative data to identify distinct patterns in shelter use. In Australia, the use of administrative data to understand service utilisation patterns among people ‘at risk’ of homelessness and experiencing homelessness is limited.
Godwin Kavaarpuo, Kathryn Daley, Guy Johnson   +2 more
wiley   +1 more source

Trauma‐Informed Practice in Welfare‐to‐Work and Employment Services: A Scoping Review

Australian Journal of Social Issues, EarlyView.
ABSTRACT There is increasing recognition within welfare services, including employment services, that many participants may have histories of trauma. Research suggests that experiences of trauma not only impact individuals' psychosocial health but also vocational elements such as job performance, employability, career progression, and financial ...
Emily Corbett, Michael McGann, Mark Considine, René Rejón   +3 more
wiley   +1 more source

Hearing Loss Prevalence, Years Lived With Disability, and Hearing Aid Use in the United States From 1990 to 2019: Findings From the Global Burden of Disease Study. [PDF]

Ear Hear
Haile LM, Orji AU, Reavis KM, Briant PS, Lucas KM, Alahdab F, Bärnighausen TW, Bell AW, Cao C, Dai X, Hay SI, Heidari G, Karaye IM, Miller TR, Mokdad AH, Mostafavi E, Natto ZS, Pawar S, Rana J, Seylani A, Singh JA, Wei J, Yang L, Ong KL, Steinmetz JD, GBD 2019 USA Hearing Loss Collaborators.   +25 more
europepmc   +1 more source

Age-standardized years lived with disability (YLD) due to types HHA in the WHO African Region, 2000–2021.

Temitope T Ojo (13268562), Prince M Amegbor (18709930), Farha Islam (19850826), Joyce Gyamfi (3293661), Andi Mai (22291001), Carly M Malburg (22291004), Deborah B Adenikinju (22291007), Nicholas J Kassebaum (8383509), Shimelis Tadesse Abebe (19184107), Richard Gyan Aboagye (11062921), Ganiyu Adeniyi Amusa (18346479), Seth Christopher Yaw Appiah (8673417), Haftu Asmerom Asmerom (19715341), Isaac Sunday Chukwu (17255680), Tadesse Asmamaw Dejenie (12197236), Fitsum Wolde Demisse (18301738), Gashaw Dessie (11512858), Mengistie Diress (10136788), Christopher Imokhuede Esezobor (18474798), Habitu Birhan Eshetu (13267716), Adeniyi Francis Fagbamigbe (4344979), Sefineh Fenta (22291010), Teferi Gebru Gebremeskel (8544399), Segun Emmanuel Ibitoye (9154130), Robel Hussen Kabthymer (10105700), Woldeteklehaymanot Dagne Kassahun (19136566), Biruk Getahun Kibret (19912263), Osaretin Christabel Okonji (16415994), Prof Mayowa O Owolabi (22291013), Prof Léon Muepu M Tshilolo (22291016), Berhanu Woldu (3555188), Emmanuel K Peprah (9714998)   +31 more
openalex   +1 more source