Publications by authors named "A-C Servais"
Article Synopsis
- Nemaline myopathy (NM) is a muscle disorder characterized by a wide range of clinical severity, largely influenced by specific genetic mutations, with ACTA1 being a key gene linked to severe cases.
- Researchers studied a cohort of ten families with severe NM, finding that affected individuals often faced significant muscle weakness from birth and many did not survive beyond the early months of life; DNA testing revealed mutations in the ACTA1 gene for all cases.
- Muscle biopsy analysis showed distinctive NM histopathology, such as abnormal muscle structure and changes in nuclear organization, which were validated by examining similar cases, suggesting a deeper understanding of the disease's genetic and structural complexities.
Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT ( NCT03505099 ), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated within six postnatal weeks. Of 15 children with three SMN2 copies treated before symptom onset, all stood independently before 24 months (P < 0.
View Article and Find Full Text PDFCoastal wetlands are globally important sinks of organic carbon (C). However, to what extent wetland C cycling will be affected by accelerated sea-level rise (SLR) and saltwater intrusion is unknown, especially in coastal peat marshes where water flow is highly managed. Our objective was to determine how the ecosystem C balance in coastal peat marshes is influenced by elevated salinity.
View Article and Find Full Text PDFBackground: Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein.
Methods: We conducted a randomized, double-blind, sham-controlled, phase 3 efficacy and safety trial of nusinersen in infants with spinal muscular atrophy.
This study aimed to find out whether genetic polymorphisms were present in positions potentially affecting susceptibility to antiretrovirals in non-B subtypes from HIV-1-infected patients in Rwanda. Viral pol gene diversity was investigated by direct sequencing in 43 treatment-naive women. In addition, 10 DNA sequences from uncultured peripheral blood mononuclear cells were analyzed 6 weeks after a single dose of nevirapine (prevention of mother-to-child transmission program).
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