Publications by authors named "Ali Dehnavi"

Article Synopsis
  • Morbihan's disease is a rare condition that leads to chronic swelling of the face, with unclear causes related to blood vessel and lymphatic system issues.
  • Traditional treatments are usually not effective, and there’s no widely accepted successful therapy for the condition.
  • A case study of a 17-year-old male showed improvement using a new combination treatment of cromolyn sodium nasal spray and oral montelukast, which had not been previously reported for this syndrome.
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This study used an integrated approach to mainly assess the water quality of paddy field during cultivation and quantify its equivalent ecological damages. Accordingly, an isolated pilot area with 0.6 ha and subsurface drainage pipes was prepared for flow measurement and multiple pollutant examination (DO, EC, pH, COD, TKN, TN, TP, NO, butachlor) under controlled condition during 94 days of rice cultivation.

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Article Synopsis
  • A study on early-onset progressive cerebellar ataxia in Iran was conducted at the Children's Medical Center from 2019 to 2022, focusing on genetic factors and patient data.
  • Researchers examined 162 patients, identifying pathogenic genetic variants in 42 genes across 97 families, achieving a genetic diagnostic rate of nearly 60%.
  • The findings highlight Iran's diverse genetic causes of hereditary ataxia, emphasizing the need for preventive strategies and a national guideline to enhance diagnosis and patient care.
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Introduction: variants have been identified as a causative agent of neuronal ceroid lipofuscinosis 2 disease, that ataxia is one of its clinical features. Therefore, here, molecular study of variants is presented in an Iranian cohort and a novel pathogenic variant is described.

Methods: This investigation was conducted as a cross-sectional study in a tertiary referral hospital, Children's Medical Center, Pediatrics Center of Excellence.

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Article Synopsis
  • The study investigates mitochondrial leukodystrophies (MLs) in a cohort of 41 pediatric patients, revealing a strong link between mitochondrial respiratory chain impairments and genetic mutations.
  • Whole exome sequencing was utilized to identify mutations, resulting in the discovery of 39 homozygous variants and five novel variants potentially contributing to the disease's development.
  • Common symptoms included neurological regression, and differences in MRI findings were noted between patients affected by oxidative phosphorylation issues and those with mtDNA maintenance problems.
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Background: Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. Infantile neuroaxonal dystrophy (INAD) and PLA2G6-related dystonia-parkinsonism are the main two subtypes. In this cohort, we reviewed clinical, imaging, and genetic features of 25 adult and pediatric patients harboring variants in the PLA2G6.

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Background: The relationship between attention-deficit/hyperactivity disorder (ADHD) symptoms and type 2 diabetes mellitus (T2D) and its cardiovascular outcomes have not been sufficiently studied.

Methods: 2,986 adults with T2D from the Joslin Diabetes Center at Upstate Medical University were assessed for ADHD-like symptoms, executive dysfunction, and emotional control using the Adult Self-Report Scale V1.1 (ASRS) expanded version.

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Background: This study aimed to investigate the pooled diagnostic ability of circular RNA (circRNA) molecules for diabetes mellitus.

Methods: We searched PubMed, Scopus, and Web of Science for relevant studies. A total of 2070 participants, including 775 diabetic patients and 1295 healthy individuals, from five studies were included in this meta-analysis.

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Background: Multiple sclerosis (MS) is an immune-mediated disease that has been related to several risk factors such as various viral infections. We carried out this study in order to establish a relationship between COVID-19 infection and MS severity.

Methods: In a case-control study, we recruited patients with relapsing-remitting multiple sclerosis (RRMS).

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Background: Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems. Disease-causing variants in the gigaxonin gene (GAN) cause autosomal recessive giant axonal neuropathy. Facial weakness, nystagmus, scoliosis, kinky or curly hair, pyramidal and cerebellar signs, and sensory and motor axonal neuropathy are the main symptoms of this disorder.

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Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by a DNA repair defect caused by ultraviolet light and cutaneous manifestations, including solar lentigines, xerosis, actinic damage, and cutaneous neoplasms (e.g., basal cell carcinoma, squamous cell carcinoma, and melanoma).

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Background: Multiple sclerosis (MS) is an immune-mediated disease that has been related to several risk factors such as various viral infections. We carried out this study in order to establish a relationship between COVID-19 infection and MS severity.

Methods: In a case-control study, we recruited patients with relapsing-remitting multiple sclerosis (RRMS).

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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is now increasingly identified from all countries over the world, possibly rendering it one of the most common autosomal recessive ataxias. Here, we selected patients harboring SACS variants, the causative gene for ARSACS, in a large cohort of 137 patients with early-onset ataxia recruited from May 2019 to May 2021 and were referred to the ataxia clinic. Genetic studies were performed for 111 out of 137 patients (81%) which led to a diagnostic rate of 72.

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Background: Delirium is prevalent among hospitalised patients, especially in critically ill patients. Preventing delirium by recognising its modifiable risk factors could improve life quality, decrease mortality and restrain its devastating consequences.

Method: We investigated 50 patients who had been hospitalised in the general ICU and monitored them for developing delirium.

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Background: Leukodystrophies are the main subgroup of inherited CNS white matter disorders which cause significant mortality and morbidity in early years of life. Diagnosis is mostly based on clinical context and neuroimaging findings; however, genetic tools, particularly whole-exome sequencing (WES), have led to comprehending the causative gene and molecular events contributing to these disorders. Mutation in Alkaline Ceramidase 3 (ACER3) gene which encodes alkaline ceramidase enzyme that plays a crucial role in cellular growth and viability has been stated as an uncommon reason for inherited leukoencephalopathies.

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Correction for 'Protective effects of hydroalcoholic extracts from an ancient apple variety 'Mela Rosa dei Monti Sibillini' against renal ischemia/reperfusion injury in rats' by Hasan Yousefi-Manesh et al., Food Funct., 2019, 10, 7544-7552.

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Background: Various techniques are used in diagnosing cardiac diseases. The electrocardiogram is one of these tools in common use. In this study vectorcardiogram (VCG) signals are used as a tool for detection of cardiac ischemia.

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