Risdiplam and nusinersen in spinal muscular atrophy: a descriptive real-world study on motor function outcomes in northwestern Iran.

Spinal muscular atrophy (SMA) types 2 and 3 are chronic neuromuscular disorders characterized by progressive motor impairment. Although disease-modifying therapies such as risdiplam and nusinersen have shown clinical efficacy, real-world data in pediatric populations remain limited. This prospective observational study evaluated motor function outcomes in 20 children with SMA (aged 3 to 13 years; 12 with type 2, 8 with type 3) receiving either risdiplam or nusinersen in Northwestern Iran.

Identification of a Novel TRIT1 Mutation in a Consanguineous Iranian-Azeri-Turkish Family With Global Developmental Delay.

Global developmental delay (GDD) and intellectual disability (ID) affect up to 3% of the paediatric population, with a multifactorial aetiology that complicates genetic identification. To date, over 400 genes have been implicated in GDD. Here, we report a novel homozygous splice acceptor variant, NC_000001.

A publicly available pharyngitis dataset and baseline evaluations for bacterial or nonbacterial classification.

Accurate and early differentiation between bacterial and nonbacterial pharyngitis is crucial for optimizing treatment and minimizing unnecessary antibiotic use. The similar clinical presentation of sore throat in bacterial and nonbacterial infections poses significant diagnostic challenges, even for experienced clinicians. To address this, we developed a publicly available dataset consisting of high-resolution throat images captured using smartphone cameras.

Economic Evaluation of Acute Appendicitis Therapeutic Interventions: A Systematic Review.

Background And Aims: Acute appendicitis (AA) is a prevalent cause of lower abdominal pain, often leading patients to seek emergency department care, particularly among young individuals. The present study aimed to systematically review cost-effectiveness studies focusing on therapeutic interventions for AA.

Method: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we systematically reviewed economic evaluations of AA treatments published between 2000 and 2020.

Hepatic toll of keto: unveiling the inflammatory and structural consequences of ketogenic diet in rats.

Background: The ketogenic diet (KD) has been used as a therapeutic diet for a range of diseases such as epilepsy, obesity, and cancer. However, it may cause some adverse effects that are not well known. This study aimed to assess the possible impact of the KD on liver structure and function, as well as hepatic inflammatory markers.

Genetic insights into progressive myoclonic epilepsies: A case study of mutation in an Iranian-Azeri-Turkish family.

Progressive Myoclonic Epilepsies (PMEs) are a rare and heterogeneous group of epileptic disorders often with progressive neurologic deterioration. The intensity of the clinical features varies depending on the underlying genetic etiology. This study aims to identify the genetic mutation associated with PME in a family belonging to the Iranian-Azeri-Turkish ethnic population.

Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data.

Background: Three medications have been approved for spinal muscular atrophy (SMA) treatment. No head-to-head clinical trials have directly compared the efficacy of nusinersen and risdiplam. We compare the efficacy of them in Type 2 and 3 SMA patients, with 6 months of follow-up.

Correlation between Electrodiagnostic Findings and Cerebrospinal Fluid Changes in Children with Guillain-Barre syndrome.

Objectives: Guillain-Barré syndrome (GBS) involves the peripheral nervous system developed by infections or immune conditions. Cerebrospinal fluid (CSF) analysis and electrodiagnostic tests are essential diagnostic methods for GBS. However, limited data are available on how the findings from these methods relate to each other.

Design and validation of the reflection skills self-assessment questionnaire (RSSAQ).

Background: Reflection is one of the main components of the medical sciences curriculum. It is one of the learner-centered educational strategies, leading to deep learning, and is necessary to attain professional capabilities. A pertinent challenge is how to assess reflection.

Economic evaluation of proton pump inhibitors in patients with gastro-oesophageal reflux disease: a systematic review.

Objectives: Our aim was to systematically review the cost-effectiveness of proton pump inhibitor (PPI) therapies and surgical interventions for gastro-oesophageal reflux disease (GORD).

Design: The study design was a systematic review of economic evaluations.

Data Sources: We searched PubMed, Embase, Scopus, and Web of Science for publications from January 1990 to March 2023.

Design, methodology, and early findings of an autism registry program: ABBILAR project.

This study aims to outline the establishment of an autism registry program in the East Azerbaijan province of Iran, delineate its components, present the initial descriptive analysis results of the registered cases, and outline potential opportunities for further utilization of registry data. The children and adolescents of age ⩽18 years, who met the Fourth Edition of the Diagnostic and Statistical Manual of Mental Disorders or Fifth Edition of the Diagnostic and Statistical Manual of Mental Disorders criteria for autism spectrum disorder, were eligible for inclusion in the autism spectrum disorder registry program. A total of 1120 cases were registered from January 2015 to December 2023.

Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation.

We present a 7.5-year-old boy born to a family from the Iranian Azeri Turkish ethnic group with a consanguineous marriage who presents with a unique set of symptoms, suggesting Giant Axonal Neuropathy. He achieved independent walking at age 3 years, with frequent falling during running.

Medication adherence and its relationship with stress, anxiety and depression in parents or caregivers of epileptic children.

Background: Epilepsy during childhood can have a highly important effect on the family system. Parents of epileptic children may experience stress, anxiety, and depression. Adherence to treatment has been reported to be suboptimal among children with epilepsy.

Medical students' perception of mobile learning during COVID-19 in Iran: A national study.

Introduction: Mobile learning has gained significant attention in medical education in recent years. The COVID-19 crisis has further accelerated its adoption. A lack of research on student perceptions of mobile learning during pandemics limits strategies for maintaining education during these times.

Multi-modal classification of breast cancer lesions in Digital Mammography and contrast enhanced spectral mammography images.

Breast cancer ranks as the second most prevalent cancer in women, recognized as one of the most dangerous types of cancer, and is on the rise globally. Regular screenings are essential for early-stage treatment. Digital mammography (DM) is the most recognized and widely used technique for breast cancer screening.

Economic evaluation of stereotactic radiotherapy and stereotactic radiosurgery technologies in the treatment of cancers: a systematic review.

Introduction: This systematic review study investigated the cost-effectiveness of stereotactic radiotherapy (SRT) and stereotactic radiosurgery (SRS) for treatment of various types of cancers.

Methods: PubMed, Scopus, and Web of Science were searched from 30 December 1990 to 1 January 2023. The entered studies were screened in accordance with the inclusion criteria.

The Effects of Vitamin B-Complex Supplementation on Serum Homocysteine Levels and Migraine Severity in Children A Randomized Controlled Trial.

Objectives: Given that deficiency in B vitamins can lead to the accumulation of homocysteine (Hcy), and hyperhomocysteinemia may have a role in migraine pathogenesis, the present prospective randomized double-blinded placebo-controlled trial aimed to evaluate the effect of vitamin B-complex supplementation on the alleviation of migraine in children through a possible reduction in Hcy levels.

Materials & Methods: Ninety children under 15 years of age suffering from typical migraine were included in the present trial. They were randomly assigned into two groups (forty-five patients in each group) to receive either vitamin B-complex or a matching placebo for six months.

The possible anti-seizure properties of Klotho.

Recurrent seizures in epilepsy may lead to progressive neuronal damage, which can diminish health-related quality of life. Evaluation and control of pathological processes in the brain is valuable. It seems imperative that new markers and approaches for seizure alleviation be discovered.

Cost-effectiveness of remdesivir for the treatment of hospitalized patients with COVID-19: a systematic review.

Background: Remdesivir is being studied and used to treat coronavirus disease 2019 (COVID-19). This study aimed to systematically identify, critically evaluate, and summarize the findings of the studies on the cost-effectiveness of remdesivir in the treatment of hospitalized patients with COVID-19.

Methods: In this systematic review, PubMed, EMBASE, Web of Science, SCOPUS, and the Cochrane Library were searched for studies published between 2019 and 2022.

Identification of a novel mutation in the gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion.

Congenital fibre-type disproportion (CFTD) with myopathy, is a genetically heterogeneous disease in which there is relative hypotrophy of type-1-muscle-fibres compared to type-2-fibres on skeletal muscle biopsy. The classical characteristics of CFTD are infantile hypotonia and nonprogressive muscle weakness with a broad range of clinical manifestations. Pathogenic mutations in the gene encoding 3-hydroxyacyl-CoA-dehydratase-1 have recently been reported to be associated with this disease.

Economic evaluation of next-generation sequencing techniques in diagnosis of genetic disorders: A systematic review.

In recent years, massively parallel sequencing or next generation sequencing (NGS) has considerably changed both the research and diagnostic fields, and rapid developments have led to the combination of NGS techniques in clinical practice, ease of analysis, and detection of genetic mutations. This article aimed at reviewing the economic evaluation studies of the NGS techniques in the diagnosis of genetic diseases. In this systematic review, scientific databases (PubMed, EMBASE, Web of Science, Cochrane, Scopus, and CEA registry) were searched from 2005 to 2022 to identify the related literature on the economic evaluation of NGS techniques in the diagnosis of genetic diseases.

Economic evaluation of ferric carboxymaltose compared with placebo in iron-deficient patients with heart failure: a systematic review.

Background: It has been shown that ferric carboxymaltose (FCM) improves symptoms and quality of life in iron-deficient patients with heart failure (HF).

Aim: We aimed to systematically review studies conducted on the cost-effectiveness of FCM compared to placebo in iron-deficient patients with HF.

Method: We searched PubMed, EMBASE, Scopus, and Web of Science to find the relevant studies.

The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.

Background: Insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had not been determined.

Objective: To describe the key demographic, clinical, and genetic characteristics of patients with SMA registered in the Iranian Registry of SMA (IRSMA).