Spectrum of sleep-disordered breathing and quality of sleep in adolescent and adult patients with spinal muscular atrophy
In conclusion, sleep-disordered breathing is common even among adult patients with spinal muscular atrophy type 2 and 3, and may show either obstructive or different types on non-obstructive features. A worse respiratory muscle function is associated to non-obstructive sleep-disordered breathing and poorer sleep quality. Sleep quality should receive greater attention especially in patients with spinal muscular atrophy type 2, who have a poorer respiratory muscle function, as it could affect their quality of life.PMID:38654474 | DOI:10.1111/jsr.14222 (Source: Journal of Sleep Research)
Source: Journal of Sleep Research - April 24, 2024 Category: Sleep Medicine Authors: Grazia Crescimanno Antonino Lupica Vito Tommasello Vincenzo Di Stefano Filippo Brighina Oreste Marrone Source Type: research
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns
This study presents the findings of a newborn screening (NBS) pilot project for spinal muscular atrophy (SMA) 5q in multiple regions across Russia for a period of 2022 year. The aim was to assess the feasibility and reproducibility of NBS for SMA5q in diverse populations and estimate the real prevalence of SMA5q in Russia as well as the distribution of patients with different number of SMN2 copies. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 24, 2024 Category: Neurology Authors: Irina Yu. Efimova, Rena A. Zinchenko, Andrey V. Marakhonov, Natalya V. Balinova, Kristina A. Mikhalchuk, Olga A. Shchagina, Alexander V. Polyakov, Dzhaina A. Mudaeva, Djamila H. Saydaeva, Svetlana A. Matulevich, Polina D. Parshintseca, Elena Yu. Belyashov Tags: Research Paper Source Type: research
Healthcare resource utilisation and direct medical cost for individuals with 5q spinal muscular atrophy in Sweden
Discussion and conclusionThe economic burden attributable to SMA is significant. Further research is needed to understand the burden in other European countries and the impact of new treatments. (Source: The European Journal of Health Economics)
Source: The European Journal of Health Economics - April 20, 2024 Category: Health Management Source Type: research
Stasimon/Tmem41b is required for cell proliferation and adult mouse survival
This study provides new insights into the essential requirement of Stasimon/Tmem41b for cellular and organismal fitness and expands the experimental toolkit to investigate its functions in the mammalian system.PMID:38640735 | DOI:10.1016/j.bbrc.2024.149923 (Source: Biochemical and Biophysical Research communications)
Source: Biochemical and Biophysical Research communications - April 19, 2024 Category: Biochemistry Authors: Maria J Carlini Meaghan Van Alstyne Hua Yang Shubhi Yadav Neil A Shneider Livio Pellizzoni Source Type: research
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study
Conclusions
These results suggest that language and communication development may follow a similar pattern to that observed in motor function with the possibility to develop skills (eg, ability to say clear words) that are not usually present in untreated infants but with a level of performance that does not reach that of their typically developing peers. (Source: Archives of Disease in Childhood)
Source: Archives of Disease in Childhood - April 18, 2024 Category: Pediatrics Authors: Buchignani, B., Cicala, G., Cumbo, F., Ricci, M., Capasso, A., Ticci, C., Mazzanti, S., Brolatti, N., Tosi, M., Dosi, C., Antonaci, L., Coratti, G., Pera, M. C., Leone, D., Palermo, C., Berti, B., Frongia, A. L., Sacchini, M., Bruno, C., Masson, R., DAmic Tags: Original research Source Type: research
Profound hypoxemia and hypotension during posterior spinal fusion in a spinal muscular atrophy child with severe scoliosis: a case report
We report an unusual case of an SMA girl who developed severe intraoperative hypoxemia and hypotension ... (Source: BMC Anesthesiology)
Source: BMC Anesthesiology - April 18, 2024 Category: Anesthesiology Authors: Qian Shu, Yulei Dong, Weiyun Chen and Jianxiong Shen Tags: Case Report Source Type: research
Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III
CONCLUSION: This study identified metabolic markers are promising candidate prognostic factors for SMA. We also identified the metabolic pathways associated with the severity of SMA. These assessments can help predict the outcomes of screening SMA classification biomarkers.PMID:38615366 | PMC:PMC11016346 | DOI:10.1111/cns.14718 (Source: CNS Neuroscience and Therapeutics)
Source: CNS Neuroscience and Therapeutics - April 14, 2024 Category: Neuroscience Authors: Mengnan Lu Xueying Wang Na Sun Shaoping Huang Lin Yang Dan Li Source Type: research
Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III
CONCLUSION: This study identified metabolic markers are promising candidate prognostic factors for SMA. We also identified the metabolic pathways associated with the severity of SMA. These assessments can help predict the outcomes of screening SMA classification biomarkers.PMID:38615366 | PMC:PMC11016346 | DOI:10.1111/cns.14718 (Source: CNS Neuroscience and Therapeutics)
Source: CNS Neuroscience and Therapeutics - April 14, 2024 Category: Neuroscience Authors: Mengnan Lu Xueying Wang Na Sun Shaoping Huang Lin Yang Dan Li Source Type: research
Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III
CONCLUSION: This study identified metabolic markers are promising candidate prognostic factors for SMA. We also identified the metabolic pathways associated with the severity of SMA. These assessments can help predict the outcomes of screening SMA classification biomarkers.PMID:38615366 | PMC:PMC11016346 | DOI:10.1111/cns.14718 (Source: CNS Neuroscience and Therapeutics)
Source: CNS Neuroscience and Therapeutics - April 14, 2024 Category: Neuroscience Authors: Mengnan Lu Xueying Wang Na Sun Shaoping Huang Lin Yang Dan Li Source Type: research
Fatigue in Spinal Muscular Atrophy: a fundamental open issue
Acta Myol. 2024 Mar 31;43(1):1-7. doi: 10.36185/2532-1900-402. eCollection 2024.ABSTRACTHereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult lif...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Oscar Crisafulli Angela Berardinelli Giuseppe D'Antona Source Type: research
