Results 171 to 180 of about 166,443,374 (239)

The Made‐in‐Africa Evaluation framework: A decolonial approach to program evaluation

American Journal of Community Psychology, EarlyView.
Abstract The Made in Africa Evaluation (MAE) framework is a decolonial approach to program evaluation developed by African evaluators over the past 14 years. MAE may be appropriate to community psychologists who practice program evaluation or conduct research in Africa, but little is known about its implementation.
Takatso Sibanda, Robin Lin Miller
wiley   +1 more source

HOPE Kids 2: Phase 3, Randomized Trial of Voxelotor in Children With SCD and Conditional Cerebral Blood Flow Velocities

American Journal of Hematology, EarlyView.
ABSTRACT Children with SCD have elevated stroke risk, correlated with cerebral blood flow velocity (CBFV). HOPE Kids 2 was a phase 3, multicenter, double‐blind, placebo‐controlled trial evaluating the effect of voxelotor on CBFV. Participants aged 2 to < 15 years with SCD (HbSS/HbSβ0) and conditional CBFV (170 to < 200 cm/s) were randomized 1:1 to ...
Halima Bello‐Manga, Shehu Umar Abdullahi, Hoda Hassab, Biobele Brown, Videlis Nduba, Jessie Githanga, Adeseye Michael Akinsete, Amal El‐Beshlawy, Diana Hanna, Catherine Segbefia, Iheanyi Okpala, Azza Tantawy, Bernhards Ogutu, Venée N. Tubman, Vivian Paintsil, Yasser Wali, Mohammed Essa, Paul Telfer, Sandy Dixon, Anne Hickman, Jennifer F. Doss, Mark W. Davis, Jeremy Rupon, Fenella J. Kirkham, R. Clark Brown, on behalf of the HOPE Kids 2 Investigators, Amal El‐Beshlawy, Mohamed Badr, Diana Hanna*, Hoda Hassab, Azza Tantawy, Vivian Paintsil, Catherine Segbefia, Raffaella Colombatti, Daniela Cuzzubbo, Silverio Perrotta, Jessie Githanga, Videlis Nduba, Bernhards Ogutu, Shehu Umar Abdullahi, Adeseye Michael Akinsete, Halima Bello‐Manga, Biobele Brown, Iheanyi Okpala, Yasser Wali, Mohammed Essa, Banu Kaya, Paul Telfer, Ofelia Alvarez, Natasha Archer, Shayla Bergmann, R Clark Brown, Andrew Campbell, Carlton Dampier*, Richard Hurwitz, Erin Jackson, Janet Kwiatkowski, Melissa M. McNaull*, Venée N. Tubman   +58 more
wiley   +1 more source

Occupational Conditions and Well‐Being Among Informal Waste Pickers in Hong Kong: A Comparative Study of 2018 and 2023

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Informal waste pickers play a crucial role in urban recycling systems but often face precarious employment and systematic marginalization. This study examines the evolving demographic, occupational, and health trends of informal waste pickers in Hong Kong between 2018 and 2023.
Siu‐Ming Chan, Alan Tam, Heng Xu, Yu‐tian He, Yuen‐Ki Tang, Gum‐Ryeong Park, Wing‐Him Tang   +6 more
wiley   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

THE MECHANISM OF LEGAL REGULATION INFORMATION RELATIONSHIPS

Law and public administration, 2020
openaire   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 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