Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
This nonrandomized controlled trial evaluates motor milestones in infants with spinal muscular atrophy diagnosed after clinical symptom onset vs those diagnosed through newborn screening programs. (Source: JAMA Pediatrics)
Source: JAMA Pediatrics - April 8, 2024 Category: Pediatrics Source Type: research
Universal Newborn Screening for Spinal Muscular Atrophy
Evidence of benefit is often viewed differently by regulators, clinicians, and patient communities. This is especially true in rare disease. Newborn screening (NBS) for spinal muscular atrophy (SMA) has been gradually implemented worldwide, yet is not universally available. There is no doubt that initiating disease-modifying therapy (DMT) earlier in newborns who will otherwise develop symptoms of SMA in infancy or childhood results in improved outcomes. The magnitude of this benefit is dependent on SMN2 copy number, clinical condition at treatment onset, and time to treatment initiation. In this context, improving the proc...
Source: JAMA Pediatrics - April 8, 2024 Category: Pediatrics Source Type: research
Reliability and Validity of the Turkish Translation of the PedsQL ™ 3.0 Neuromuscular Module for 2-to 4-Year-Olds in Spinal Muscular Atrophy
Conclusion This study established the PedsQL™ 3.0 NM-TR as reliable, valid, and feasible for use in children aged 2 to 4 years with SMA. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - April 8, 2024 Category: Neurology Authors: Kutlut ürk Yıkılmaz, Seval Tanr ıverdi, Müberra Öktem, Sedat Tags: Original Article Source Type: research
Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function
We reported on motor scores and spirometry parameters.ResultsTen patients were included, with a median follow-up of 34 months (range = 22–46). Four patients (40%) were walkers. None used non-invasive ventilation. In Revised Upper Limb Module (RULM) and Expanded Hammersmith Functional Motor Scale (HFMSE), difference of medians increased at 6, 22 and 46 months comparing to baseline (−0.5vs. + 1.5vs. + 2.5 in RULM; + 4.0vs. + 7.5vs. + 6.0 in HFMSE). Two (50%) walkers presented a clinically meaningful improvement in 6-min walk distance. We did not report any clinically meaningful decrement in mot...
Source: Neurological Sciences - April 8, 2024 Category: Neurology Source Type: research
Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China
Biochem Genet. 2024 Apr 6. doi: 10.1007/s10528-024-10775-9. Online ahead of print.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular disorder with an autosomal recessive inheritance pattern. Patients with severe symptoms may suffer respiratory failure, leading to death. The homozygous deletion of exon 7 in the SMN1 gene accounts for nearly 95% of all cases. Population carrier screening for SMA and prenatal diagnosis by amniocentesis for high-risk couples can assist in identifying the risk of fetal disease. We provided the SMA carrier screening process to 55,447 pregnant women in Yancheng from October 2020 to December...
Source: Biochemical Genetics - April 6, 2024 Category: Genetics & Stem Cells Authors: Huilin Sun Jianli Zheng Qing'e Zhang Feifei Ying Yadong Fu Yongjuan Guan Jing Wu Yueyun Zhou Jingjing Dong Mengjun Xu Fangfang Yang Ning An Ning Shi Lu Zhang Shu Zhu Jianbing Liu Min Li Source Type: research
Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China
Biochem Genet. 2024 Apr 6. doi: 10.1007/s10528-024-10775-9. Online ahead of print.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular disorder with an autosomal recessive inheritance pattern. Patients with severe symptoms may suffer respiratory failure, leading to death. The homozygous deletion of exon 7 in the SMN1 gene accounts for nearly 95% of all cases. Population carrier screening for SMA and prenatal diagnosis by amniocentesis for high-risk couples can assist in identifying the risk of fetal disease. We provided the SMA carrier screening process to 55,447 pregnant women in Yancheng from October 2020 to December...
Source: Biochemical Genetics - April 6, 2024 Category: Genetics & Stem Cells Authors: Huilin Sun Jianli Zheng Qing'e Zhang Feifei Ying Yadong Fu Yongjuan Guan Jing Wu Yueyun Zhou Jingjing Dong Mengjun Xu Fangfang Yang Ning An Ning Shi Lu Zhang Shu Zhu Jianbing Liu Min Li Source Type: research
Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review
This study aims to explore recent findings regarding cognitive outcomes in SMA patients, including correlations between clinical features and cognitive abilities. The investigation seeks to identify commonly used measures for assessing cognitive function in this patient population. A scoping review following the Joanna Briggs Institute methodology examined literature until December 2023. Two databases were searched along with relevant article references using specific terms such as “spinal muscular atrophy,” “SMA,” “cognitive,” “abilities,” “functions,” “intellective,” or “intellectual.” Screeni...
Source: Neurological Sciences - April 6, 2024 Category: Neurology Source Type: research
Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population
CONCLUSION: Monogenic recessive hereditary diseases had a high carrier rate in the population. Pre-pregnancy screening could provide good prenatal and postnatal care guidance for patients and preimplantation genetic testing for monogenic/single gene disorders (PGT-M) and prenatal diagnosis could provide more precise reproductive choices for high-risk parents.PMID:38562051 | DOI:10.1002/mgg3.2425 (Source: Molecular Medicine)
Source: Molecular Medicine - April 2, 2024 Category: Molecular Biology Authors: Li Tan Yuefan Qi Peijuan Zhao LanLan Cheng Guo Yu Dongmei Zhao Yu Xia Song Yun Gai Xiang Source Type: research
Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population
CONCLUSION: Monogenic recessive hereditary diseases had a high carrier rate in the population. Pre-pregnancy screening could provide good prenatal and postnatal care guidance for patients and preimplantation genetic testing for monogenic/single gene disorders (PGT-M) and prenatal diagnosis could provide more precise reproductive choices for high-risk parents.PMID:38562051 | PMC:PMC10985407 | DOI:10.1002/mgg3.2425 (Source: Molecular Medicine)
Source: Molecular Medicine - April 2, 2024 Category: Molecular Biology Authors: Li Tan Yuefan Qi Peijuan Zhao LanLan Cheng Guo Yu Dongmei Zhao Yu Xia Song Yun Gai Xiang Source Type: research
Clinical application value of pre ‐pregnancy carrier screening in Chinese Han childbearing population
ConclusionMonogenic recessive hereditary diseases had a high carrier rate in the population. Pre-pregnancy screening could provide good prenatal and postnatal care guidance for patients and preimplantation genetic testing for monogenic/single gene disorders (PGT-M) and prenatal diagnosis could provide more precise reproductive choices for high-risk parents. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 2, 2024 Category: Genetics & Stem Cells Authors: Li Tan,
Yuefan Qi,
Peijuan Zhao,
LanLan Cheng,
Guo Yu,
Dongmei Zhao,
Yu Xia Song,
Yun Gai Xiang Tags: ORIGINAL ARTICLE Source Type: research
Molecular Mechanisms of Medicinal Plant Securinega Suffruticosa-derived Compound Securinine against Spinal Muscular Atrophy based on Network Pharmacology and Experimental Verification
CONCLUSION: Securinine might alleviate SMA by elevating HDAC1 and PRMT5 expression and reducing PTGS2 via JAK2-STAT3 suppression and PI3K-Akt activation.PMID:38561613 | DOI:10.2174/0113816128288504240321041408 (Source: Current Pharmaceutical Design)
Source: Current Pharmaceutical Design - April 1, 2024 Category: Drugs & Pharmacology Authors: Yinhong Zhang Jing He Lifeng Xiang Xinhua Tang Shiyu Wang Aoyu Li Chaoyan Wang Li Li Baosheng Zhu Source Type: research
Molecular Mechanisms of Medicinal Plant Securinega Suffruticosa-derived Compound Securinine against Spinal Muscular Atrophy based on Network Pharmacology and Experimental Verification
CONCLUSION: Securinine might alleviate SMA by elevating HDAC1 and PRMT5 expression and reducing PTGS2 via JAK2-STAT3 suppression and PI3K-Akt activation.PMID:38561613 | DOI:10.2174/0113816128288504240321041408 (Source: Current Pharmaceutical Design)
Source: Current Pharmaceutical Design - April 1, 2024 Category: Drugs & Pharmacology Authors: Yinhong Zhang Jing He Lifeng Xiang Xinhua Tang Shiyu Wang Aoyu Li Chaoyan Wang Li Li Baosheng Zhu Source Type: research
Cargo specificity, regulation, and therapeutic potential of cytoplasmic dynein
Exp Mol Med. 2024 Apr 1. doi: 10.1038/s12276-024-01200-7. Online ahead of print.ABSTRACTIntracellular retrograde transport in eukaryotic cells relies exclusively on the molecular motor cytoplasmic dynein 1. Unlike its counterpart, kinesin, dynein has a single isoform, which raises questions about its cargo specificity and regulatory mechanisms. The precision of dynein-mediated cargo transport is governed by a multitude of factors, including temperature, phosphorylation, the microtubule track, and interactions with a family of activating adaptor proteins. Activating adaptors are of particular importance because they not onl...
Source: Molecular Medicine - March 31, 2024 Category: Molecular Biology Authors: Jin-Gyeong Park Hanul Jeon Kwang Yeon Hwang Sun-Shin Cha Rafael T Han Hyesung Cho In-Gyun Lee Source Type: research
