A5066448056- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Metabolism and Genetic Disorders
- Trace Elements in Health
- Neurogenetic and Muscular Disorders Research
- Cerebral Venous Sinus Thrombosis
- Cerebral Palsy and Movement Disorders
- RNA modifications and cancer
- Nigella sativa pharmacological applications
- Genetics and Neurodevelopmental Disorders
- Folate and B Vitamins Research
- Bioactive Compounds and Antitumor Agents
- Infant Development and Preterm Care
- Congenital Anomalies and Fetal Surgery
- Neonatal Health and Biochemistry
- Neurological Complications and Syndromes
- Neuroscience and Neuropharmacology Research
- Genetic and Kidney Cyst Diseases
- Hearing, Cochlea, Tinnitus, Genetics
- Lysosomal Storage Disorders Research
- Mitochondrial Function and Pathology
- Botulinum Toxin and Related Neurological Disorders
- Fetal and Pediatric Neurological Disorders
- Neonatal and fetal brain pathology
- Stroke Rehabilitation and Recovery
Mashhad University of Medical Sciences
2015-2024
Ghaem Hospital
2005-2023
Shahid Sadoughi University of Medical Sciences and Health Services
2020
Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme purine metabolism. We delineate the genotypic phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. investigated cohort 28 new patients reviewed previously described cases, providing comprehensive characterization 40 subjects. Exome sequencing was performed to...
Background: Neonatal hypernatremic dehydration (NHD) is a dangerous condition that can lead to severe weight loss, renal impairment, and central nervous system complications. We aimed evaluate the consequences of NHD in infants their second year life. Materials Methods: This was prospective case–control study Ghaem hospital, Mashhad, Iran. Sixty-five healthy breastfed neonates (serum sodium concentration <150 mmol/L) 65 ≥150 were followed up from 2008 2011. Maternal neonatal factors compared...
Cerebral palsy (CP) is one of the most common causes serious physical disability in childhood and a persistent movement disorder before age three. This can negatively affect both child their family. In recent years, use melatonin as safe, effective, cheap drug has been expanding improving sleep disorders these children. Therefore, this study aimed to investigate melatonin's effect on children with CP.
Many neurologic manifestations of Epstein-Barr virus (EBV) infection have been documented, including encephalitis, aseptic meningitis, transverse myelitis, and Guillain-Barre syndrome. These can occur alone or coincidentally with the clinical picture infectious mononucleosis. EBV encephalitis is rare indicated as a wide range manifestations. We report 10-year-old girl presented fever, gait disturbance, bizarre behavior for one week. The results physical examination were unremarkable....
Abstract Background Zinc is an essential element for normal embryogenesis and embryonic neonatal development. Therefore, we compared the birth weights of neonates born to mothers who consumed zinc supplement during pregnancy with that did not. Methods In a cross-sectional study, divided 200 pregnant into two groups: case group (mothers receiving pregnancy) control not Then, neonate’s cord level mother’s serum were measured growth charts (weight, height head circumference)were completed....
SLC4A10 encodes a plasma membrane-bound transporter, which mediates Na
Brucellosis is a multi-system infectious disease that presents with various manifestations and complications. Neurobrucellosis an uncommon but serious presentation of brucellosis can be seen in all stages the disease. High index suspicion, especially endemic areas essential to prevent morbidity from this The case was 11- year -old female patient who admitted severe headache worsening over period 2 months. day after each attack, she experienced transient right hemiparesia lasting less than...
Biallelic pathogenic variants in the genes encoding dolichol-phosphate mannose synthase subunits (DPM) which produce mannosyl donors for glycosylphosphatidylinositols, N-glycan and protein O- C-mannosylation, are rare causes of congenital disorders glycosylation. Pathogenic DPM1 DPM2 associated with muscle-eye-brain (MEB) disease, whereas DPM3 have mostly been reported patients isolated muscle disease-dystroglycanopathy. Thus far, only one affected individual compound heterozygous presenting...
Purpose: Idiopathic intracranial hypertension (IIH) is a clinical syndrome that mimics brain tumors with increased pressure. The present study designed to investigate the diagnostic criteria of magnetic resonance imaging (MRI) and severity cerebrospinal fluid (CSF) pressure understand relationship frequency these level CSF pressure.Methods: cross-sectional was conducted on children diagnosed IIH between years 2011 2020, who were admitted pediatric neurology department Ghaem Hospital,...
Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms of this condition include retinitis pigmentosa, chronic progressive external ophthalmoplegia, and one or more the following factors: cardiac conduction system diseases, cerebellar ataxia, cerebrospinal fluid (CSF) with protein content above 100 mg/dL. The nature uncommon disease yet to be clarified. According previous reports, it see hypoparathyroidism as manifestation...