A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.

BACKGROUND: Limb girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders with a very variable clinical presentation and overlapping traits. The clinical symptoms of LGMD typically appear in adolescence or early adulthood. Genetic variation in the dysferlin gene (DYSF) has been associated with LGMD. METHODS: We characterized a recessive LGMD in a young adult from consanguineous Irani families using whole-exome sequencing (WES) technology. Sanger sequencing was performed to verify the identified variant. Computational modeling and protein-protein docking were used to investigate the impact of the variant on the structure and function of the DYSF protein. RESULTS: By WES, we identified a novel homozygous missense variant in DYSF (NM_003494.4: c.5876T > C: p. Leu1959Pro) previously been associated with LGMD phenotypes. CONCLUSIONS: The identification and validation of new pathogenic DYSF variant in the present study further highlight the importance of this gene in LGMD.

Catheter ablation as first-line treatment for ventricular tachycardia in patients with structural heart disease and preserved left ventricular ejection fraction: a systematic review and meta-analysis.

In this systematic review and meta-analysis, we aim to evaluate the efficacy and safety of catheter ablation as the first-line treatment of ventricular tachycardia (VT) in patients with structural heart disease (SHD) and preserved left ventricular ejection fraction (LVEF). Patients with SHD are particularly susceptible to VT, a condition that increases the risk of sudden cardiac death (SCD). Implantable cardioverter-defibrillators (ICDs) can terminate VT and prevent SCD but do not prevent VT recurrence. The efficacy and safety of CA as a first-line treatment in SHD patients with preserved LVEF remain unclear. We searched PubMed/Medline, EMBASE, Web of Science, and Cochrane CENTRAL for studies reporting the outcomes of CA therapy in patients with VT and preserved LVEF, published up to January 19, 2023. The primary outcome was the incidence of SCD following catheter ablation as the first-line treatment of VT in patients with SHD and preserved LVEF. Secondary outcomes included all-cause mortality, VT recurrence, procedural complications, CA success rate, and ICD implantation after catheter ablation. We included seven studies in the meta-analysis, encompassing a total of 920 patients. The pooled success rate of catheter ablation was 84.6% (95% CI 67.2-93.6). Complications occurred in 6.4% (95% CI 4.0-9.9) of patients, and 13.9% (95% CI 10.1-18.8) required ICD implantation after ablation. VT recurrence was observed in 23.2% (95% CI 14.8-34.6) of patients, while the rate of sudden cardiac death (SCD) was 3.1% (95% CI 1.7-5.6). The overall prevalence of all-cause mortality in this population was 5% (95% CI 1.8-13). CA appears promising as a first-line VT treatment in patients with SHD and preserved LVEF, especially for monomorphic hemodynamically tolerated VT. However, due to the lack of direct comparisons with ICDs and anti-arrhythmic drugs, further research is needed to confirm these findings.

Prevalence of depressive symptoms and suicidal behaviors among Iranian high school students: A systematic review and meta-analysis.

AIM: The objective of this meta-analysis was to determine the prevalence of depressive symptoms and suicidal behaviors among high-school students in Iran. MATERIALS AND METHODS: A comprehensive search strategy was conducted in the following original databases: PubMed, Web of Science (ISI), Scopus, Psycinfo, and national databases, including the Scientific Information Database (SID) and MagIran, from January 1988 through January 2023. Studies that reported the prevalence of depressive symptoms and suicidal behaviors among high school students in Iran were included. Two investigators extracted all relevant data independently. For deriving mean prevalence rates, random-effects meta-analyses were used. We assessed the quality of studies by the Joanna Briggs Institute (JBI). RESULTS: Total of 67 studies (45,798 participants) were included in the syntheses on depressive symptoms and suicidal ideation. For depressive symptoms, the mean prevalence rate was 48 % (40 %, 55 %). 2804 participants were enrolled for assessing of the prevalence of suicide ideation, and the mean prevalence rate was 21 % (6 %, 36 %). The meta-analysis pooling of the prevalence estimates of suicide attempts was 18 % (15 %, 20 %). CONCLUSIONS: Approximately half of the high school students experience depressive symptoms and, astonishingly, one in five high school students experiences suicidal ideation, so to identify strategies for preventing and treating depressive symptoms and suicidal behaviors in this special population, further research and policymaking are urgently needed.