Results 121 to 130 of about 45,438 (256)

Correction: From policy to practice: premarital spinal muscular atrophy screening as a public health initiative in northern Türkiye. [PDF]

Front Public Health
Topcu Yenercag FN, Ozturk S, Kaya Tarhan G.   +2 more
europepmc   +1 more source

A Quantitative Approach to Record Skeletal Manifestations of Leprosy and Its Application to St Mary Magdalen Leprosarium, Winchester

International Journal of Osteoarchaeology, EarlyView.
ABSTRACT This paper presents and tests a new method for publishing and diagnosing leprosy‐related skeletal lesions while making available the leprosy‐related demographic data and pathology for St Mary Magdalen, Winchester (MMW). This method can facilitate interstudy comparisons of leprosy prevalence and severity by improving data comparability.
A. A. Blom, H. Dawson‐Hobbis, S. Gross, K. White‐Iribhogbe, V. J. Schuenemann, S. A. Inskip   +5 more
wiley   +1 more source

Immaturity of the neuromuscular junction in spinal muscular atrophy mouse models. [PDF]

Front Cell Neurosci
Tabares L, Fuentes-Moliz A, Cano R, Ruiz R, Arumugam S.   +4 more
europepmc   +1 more source

Impact of Institutional Protocol on Urinary Catheter Outcome Measures in Orthopedic Children Treated With Epidural Analgesia

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Epidural analgesia is commonly used for pain control after major lower‐limb orthopedic surgery in children, but it is associated with a risk of postoperative urinary retention. Consequently, urinary catheters are often placed and left in situ for the full duration of epidural analgesia, despite the potential risks of prolonged ...
Idan Katz, Tomer Talmy, Dor Barami, Tal S. Beckmann, Barry Danino, Yotam Lior, Margaret Ekstein   +6 more
wiley   +1 more source

Case Report: Spinal muscular atrophy with IgA nephropathy: a coincidence or association? [PDF]

Front Pediatr
Gu Y, Wang L, Yuan X, Han Y, Han P, Cui J, Wang X, Huang Y, Zhang L, Li C.   +9 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

Evaluating effects of risdiplam in adults with spinal muscular atrophy: a monocentric study. [PDF]

ERJ Open Res
Crescimanno G, Alonge P, Lupica A, Tomasello V, Di Stefano V, Brighina F, Marrone O.   +6 more
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

Trends in the Timeliness of Spinal Muscular Atrophy Detection in US Infants, 2016-2023. [PDF]

Int J Neonatal Screen
Grosse SD, Hong K, Yazdanpanah GK, Nash A, Gaviglio A, Gaffney M, Lawrence KAK, Kwon JM.   +7 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