Spinal muscular atrophy is a neuromuscular genetic condition associated with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide therapy approved for the treatment of ...5q spinal muscular atrophy in pediatric and adult patients. The objective of this clinical case series is to describe the efficacy and safety of nusinersen in treating spinal muscular atrophy in 20 pediatric and 18 adult patients across six treatment centers in Kuwait. Functional motor assessments (Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders, Hammersmith Functional Motor Scale Expanded, and Revised Upper Limb Module) were used to assess changes in motor function following nusinersen treatment. The safety assessment involved clinical monitoring of adverse events. The results demonstrate clinically meaningful or considerable improvement in motor performance for nearly all patients, lasting over 4 years in some cases. A total of 70% of patients in the pediatric cohort and 72% of patients in the adult cohort achieved a clinically meaningful improvement in motor function following nusinersen treatment. Additionally, nusinersen was well-tolerated in both cohorts. These findings add to the growing body of evidence relating to the clinical efficacy and safety of nusinersen.
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known ...disease genes had been excluded by autozygosity mapping and candidate gene analysis. This prescreening step led to the identification of 69 recessive genes not previously associated with disease, of which 33 are here described (SPDL1, TUBA3E, INO80, NID1, TSEN15, DMBX1, CLHC1, C12orf4, WDR93, ST7, MATN4, SEC24D, PCDHB4, PTPN23, TAF6, TBCK, FAM177A1, KIAA1109, MTSS1L, XIRP1, KCTD3, CHAF1B, ARV1, ISCA2, PTRH2, GEMIN4, MYOCD, PDPR, DPH1, NUP107, TMEM92, EPB41L4A, and FAM120AOS). We also encountered instances in which the phenotype departed significantly from the established clinical presentation of a known disease gene. Overall, a likely causal mutation was identified in >73% of our cases. This study contributes to the global effort toward a full compendium of disease genes affecting brain function.
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•Multiplex consanguineous families are rich sources for novel gene discovery•Prescreening these families for known disease genes accelerates gene discovery•33 novel candidate genes are reported in this study
Using whole-exome sequencing on prescreened multiplex consanguineous families, Alazami et al. describe the identification of 33 novel candidate genes for various neurogenetic conditions. Such families are rich sources for novel gene discovery.
Living with extensive polypharmacy among the elderly population affects their quality of lives and medication compliance. The UK-developed (LMQ-3) which is a valid instrument designed to quantify ...medicine burden.
The objectives of this study were to quantify medicines burden among community-dwelling elderly, describe the numbers and types of drugs used, and identify the risk factors that might need to be addressed.
The descriptive cross-sectional study is designed to interview 500 Bahraini over 65 years of age using LMQ-3 questionnaire. Sample size was determined by Sloven’s formula. Data on socio-demographic characteristics and medication consumption patterns were collected then LMQ-3 and domains scores were compared by patient characteristics using descriptive statistics and statistical tests.
Results found a wide range of burden among participants in Bahrain; ranging from moderate burden in almost a third of participants to high burden over two- thirds of participants. Burden was mainly driven by concerns about medicines, interferences of medicines with daily life and side effects. Higher LMQ-3 scores were associated with those who were employed, technical, aged ≥75 years, using ≥9 medicines, or using medicines four times a day. Anti-diabetics were the most prescribed medicines for the elderly.
In conclusion, over two- thirds of participants experienced high burden. Being employed, technical, aged ≥75 years, using ≥9 medicines, or using medicines 4 times a day had the highest burden. These groups should become the main target for practitioners and pharmacists. Future studies should document potential herb-drug interactions among the elderly.
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