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.

Brucellosis in transplant recipients: A systematic review.

BACKGROUND: Brucellosis is a bacterial disease caused by Brucella species. The purpose of this study was to evaluate brucellosis in all types of transplant patients. METHODS: All the cases of brucellosis in transplant patients with no time and language limitations were searched and retrieved on May 20, 2020, using the following search keywords: (Brucella OR Brucellosis) AND (Transplant OR Transplantation) through the following medical databases: Web of Sciences, Google Scholar, Scopus, PubMed, and regional databases, for example, SID. All clinical features, including the time of transmission (before, during, and after transplantation), treatment protocols and medications, and patients' outcomes were investigated. RESULTS: A total of 14 cases reported in 14 studies (out of 777 studies) were retrieved. Kidney (50%), liver (28.5%), and hematopoietic stem cell transplantation (14.2%) were the most reported types of transplantation. The presentation of brucellosis in 42.8% of the patients occurred in the early post-transplantation period, whereas 57.1% of the cases presented with late onset disease. CONCLUSION: Brucellosis in transplant recipients seems to be uncommon even in the endemic regions. However, rare cases could be transmitted through bone marrow transplantation and transfusion. Precise screening and meticulous supervision during and after transplantation might lead to a reduction in the frequency of brucellosis.

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.

An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature.

Canavan disease is a rare fetal inherited leukodystrophy, caused by accumulation of N-acetyl-aspartate in the brain. Here, we report a child presented with frequent intractable seizures and visual impairment. A 14-month-old female infant with a complaint of the absence of neck holding and generalized tonic-clonic seizures was referred to our hospital. Macrocephaly, setting sun eyes, tremor, and hypotonia were observed. Funduscopy showed optic atrophy. Our patient's flash visual evoked potential showed blindness. Her brain magnetic resonance imaging showed diffuse white matter in subcortical, basal ganglia, and dorsal pons. Electroencephalography showed diffuse slow and sharp waves. The genetic study detected a hemizygous mutation in the aspartoacylase gene. Our patient was diagnosed with Canavan disease and began anticonvulsant treatment. However, seizures were not under control. Then, her medications were discontinued, and clobazam and primidone were administered. In conclusion, starting clobazam and primidone may help prevent frequently intractable seizures in Canavan disease patients.

A rare presentation of pulmonary thromboembolism as seizure.

Acute pulmonary thromboembolism is a critical and sometimes fatal event that is difficult for clinicians to diagnose because of its various initial manifestations. Here, we report a previously healthy 50-year-old man without any history of seizures who presented to the emergency ward with the new-onset seizure. Neurology consult was performed, but found no focal neurological deficits. The diagnosis of massive pulmonary embolism was confirmed by echocardiography and pulmonary CT angiography. Alteplase and heparin with therapeutic dosage were started for the patient. After initiating treatment, patient's dyspnea, arterial O2 saturation, and general condition were significantly improved. Echocardiography was repeated and showed a smaller right ventricle size and lower pulmonary artery pressure than the first echocardiography.