Results 151 to 160 of about 77,164 (290)

Summary of Research: Risdiplam Treatment Following Onasemnogene Abeparvovec in Individuals with Spinal Muscular Atrophy: A Multicenter Case Series. [PDF]

Adv Ther
Svoboda MD, Kuntz N, Leon-Astudillo C, Byrne BJ, Krueger J, Kwon JM, Sieburg C, Castro D.   +7 more
europepmc   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

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

Free flap reconstruction of a cast-related pressure ulcer in a pediatric patient with spinal muscular atrophy. [PDF]

JPRAS Open
Adıgüzel İF, Yenidünya MK.
europepmc   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review. [PDF]

BMC Neurol
Xi H, He W, Jiang H, Xie W, Yang Y, Yang Y, Diao K, Yang W, Li H.   +8 more
europepmc   +1 more source

Pediatric spinal ependymomas: Long‐term surgical outcomes in a cohort of 61 cases

Pediatric Investigation, EarlyView.
Spinal ependymomas are rare in children, with limited long‐term outcome data. In this retrospective study of 61 pediatric patients undergoing surgical resection, gross total resection was achieved in 62.3% and was associated with favorable functional improvement. Recurrence was observed in 31.1% of cases.
Liang Zhang, Xingyu Liu, Bo Han, Wenqing Jia   +3 more
wiley   +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

Patient reported outcome measures in spinal muscular atrophy and duchenne muscular dystrophy: review of instruments and their inclusion in clinical and regulatory processes. [PDF]

Neurol Sci
Malandrini F, Spataro C, Meregaglia M, Sansone V, D'amico A, Scopinaro A, Ciani O.   +6 more
europepmc   +1 more source

Evaluating Thiram‐Induced Embryotoxicity Using Integrated In Silico, In Vitro, and Transcriptomic Approaches

Environmental Toxicology, EarlyView.
ABSTRACT Long‐term exposure to low‐dose food contact materials (FCMs) has raised concerns regarding developmental toxicity. In the present study, we prioritized FCMs with potential developmental toxicity using a weight‐of‐evidence computational model, which predicted 127 chemicals to be of high concern.
Chia‐Chi Ho, Chun‐Wei Tung, B. Linju Yen, Chen‐Yi Weng, Ju‐Hsin Hsu, Ming‐Hsien Tsai, Salim Arrokhman, Pinpin Lin   +7 more
wiley   +1 more source