Results 141 to 150 of about 37,922 (217)

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Safety and effectiveness of risdiplam in adults with spinal muscular atrophy: a systematic review. [PDF]

J Neurol
Alonge P, Urbano G, Gadaleta G.
europepmc   +1 more source

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

A comparative analysis of bone mineral density in cerebral palsy and spinal muscular atrophy. [PDF]

Bone Rep
Bowden BG, Klamer B, Alexander R, Eisner M, Noritz G.   +4 more
europepmc   +1 more source

Muscle fat infiltration and its relation with pain intensity, disability, and cervical curvature in individuals with nonspecific neck pain: A systematic review study

PM&R, EarlyView.
Abstract Objective To review and analyze the association between muscle fat infiltration (MFI) and pain intensity, disability, and cervical alignment in individuals with nonspecific neck pain. Type Systematic review study. Literature Survey Nonspecific neck pain is associated with muscular changes, including fatty infiltration, which may contribute to ...
Hardianty Andi Munawarah Abduh, Hironobu Kuruma, Takuya Otsuka, Aufa Miftah Firdausy   +3 more
wiley   +1 more source

Hirayama disease: A case report. [PDF]

Radiol Case Rep
Dhungel R, Pokharel R, Pant AR, Pandey B.   +3 more
europepmc   +1 more source

Establishment and Comparative Analysis of Radiation‐Induced Liver Disease in Normal and Fibrotic Rat Models

Precision Radiation Oncology, EarlyView.
This study successfully established two novel rat models of radiation‐induced liver disease (RILD), one in healthy livers and the other in TAA‐induced fibrotic livers, providing valuable insights into the combined effects of radiation and pre‐existing fibrosis.
Yanting Jiang, Yuxi Ding, Fang Wang, Danni Chen, Weixiang Zhong, Zhongjie Lu, Yixiang J. Wang, Senxiang Yan, Xiaoguang Liu, Feng Zhao   +9 more
wiley   +1 more source

Heterogeneous phenotype and cardiovascular comorbidities in Swedish patients with spinobulbar muscular atrophy. [PDF]

J Neurol
Roos AK, Forsberg S, Stenvall E, Andersen PM, Zetterström P, Nordin A, Forsberg KME.   +6 more
europepmc   +1 more source

Multi‐Functional S‐HA/ASTA NPs Coating on Biodegradable ZE21B Alloy for Cerebrovascular Applications

Rare Metals, EarlyView.
ABSTRACT Magnesium (Mg) and its alloys have attracted extensive attention of researchers in the field of cerebrovascular implants due to their good mechanical properties and biosafety. However, rapid degradation and delayed endothelialization pose challenges. To address these issues, this study introduces a multifunctional composite coating.
Aqeela Yasin, Mujahid Iqbal, Yachen Hou, Jingan Li, Shaokang Guan   +4 more
wiley   +1 more source

Vertebral rotation as a predictor of residual deformity following scoliosis correction in spinal muscular atrophy: a retrospective analysis. [PDF]

J Pediatr Orthop B
Hung CY, Tu PY, Liang WC, Lu CC, Tien YC, Jong YJ, Chou SH, Chen LM, Shen PC.   +8 more
europepmc   +1 more source