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

The autism spectrum disorder (ASD) registry program presents a unique opportunity to facilitate advanced research in various aspects of ASD, particularly in low-resource countries like Iran. Given the international significance of autism research, registry programs play a critical role in data sharing. ASD registry programs have been effectively established in high-income countries over a few decades; however, there are limited examples from low- and middle-income countries.

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).

The effects of ketogenic diet on beta-hydroxybutyrate, arachidonic acid, and oxidative stress in pediatric epilepsy.

The exact mechanism of a ketogenic diet (KD) as a suitable alternative therapeutic approach for drug-resistant epilepsy (DRE) in alleviating seizures is not yet fully understood. The present study aimed to evaluate the role of the KD in reducing oxidative stress (OS) by increasing the ketone body beta-hydroxybutyrate (BHB) and Arachidonic acid (ARA), an essential polyunsaturated fatty acid, as a possible mechanism in relieving seizure attacks in children with DRE. Forty children with refractory epilepsy were included in the present study.

Cost Effectiveness of Adding Dapagliflozin to Standard Care in Heart Failure Patients with Reduced Ejection Fraction: A Systematic Review.

Introduction: Dapagliflozin, a new treatment option for heart failure, leads to a significant reduction in the hospitalization of patients with heart failure. We aimed to review studies on the economic evaluation of adding dapagliflozin to standard care compared with standard care alone in heart failure patients with reduced ejection fraction (HFrEF).

Methods: For this systematic review, the PubMed, EMBASE, Web of Science, Cochrane, Scopus, and CEA Registry scientific databases were searched from 1 January 2020 to 25 March 2022.

A report on the blended short-term supplementary course on "Developmental Care for infants and toddlers" taught with a multidisciplinary approach for pediatricians -qualitative and quantitative study.

Background: The implementation of follow-up programs for high-risk infants and toddlers aimed to promptly diagnose developmental delays and disorders and initiate early intervention to help improve their developmental status, reduce their care costs in the future, as well as improve their productivity as members of society. There is a lack of qualified specialists in the infant and toddler development field in Iran. To compensate for the lack of training in this area, for the first time, Tabriz University of Medical Sciences has designed a short-term supplementary course of "Developmental Care for Infants and Toddlers".

Developing a Roadmap for Mass Vaccination of COVID-19 in Iran: A Qualitative Study.

Background: Nowadays, the Covid-19 pandemic is 1 of the most important challenges worldwide, especially in terms of health. The most important strategy to prevent and control the Covid-19 pandemic is mass vaccination. This study aimed at developing a roadmap for the mass vaccination of COVID-19 in Iran.

Clinical presentation, electrodiagnostic findings and outcomes of acute flaccid myelitis: A brief review and case series.

Acute flaccid myelitis (AFM) is an acute condition occurring mostly in children. Although affected patients can show a broad spectrum of symptoms, it is mainly characterized by the progressive onset of focal limb weakness, presenting over a period of hours to a week, with or without pain, and spinal cord gray matter involvement on magnetic resonance imaging (MRI). There is compelling evidence to support the role of viruses, in particular enteroviruses.

Comparison of the Performance of Iranian Azeri-Speaking Children Based on Iran and Reference Bayley III Norms.

Objectives: The present study aimed to compare the performance of Iranian Azeri-speaking children based on Iran and the reference of the Bayley Scales of Infant and Toddler Development Third Edition (Bayley III) norms.

Materials & Methods: The total sample included 248 infants and toddlers aged 16 days to 42 months and 15 days. The Iranian version of the Bayley III scale was used in this study.

Peripheral neuropathy as a very rare symptom in a patient with Niemann-Pick type C with negative enzymatic evaluation: a case report.

Background: Niemann-Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and nerves. Niemann-Pick disease is categorized into four groups: A, B, C, and D.

The Effect of Everolimus on Subependymal Giant Cell Astrocytoma (SEGA) in Children with Tuberous Sclerosis Complex.

Objective: Subependymal Giant Cell Astrocytomas (SEGAs) are slow-growing glioneuronal tumors typically found around the ventricles of the brain, particularly near the foramen of Monro in 15%-20% of patients with tuberous sclerosis complex (TSC). Surgical resection is the standard treatment for these symptomatic tumors. The mTOR inhibitor everolimus can be regarded as an alternative treatment for SEGAs due to the complications of surgery.

The clinical and paraclinical manifestations of tuberous sclerosis complex in children.

Tuberous sclerosis complex (TSC) is an autosomal-dominant, multi-system, neurocutaneous disorder characterized by hamartomas in multiple organs. This study aimed to evaluate the clinical and paraclinical manifestations of children with TSC. The clinical and paraclinical characteristics of 79 children with TSC were evaluated and the possible correlations between the factors were calculated.