Bentolhoda Ziaadini

Charcot-Marie-Tooth type 4 C misdiagnosed as CIDP: electrodiagnostic pitfalls and genetic confirmation

Ali Asghar Okhovat, Hamed Shahriyari, Aida Ghasemi, Elham Dirandeh et autres

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Sacroiliitis and endocarditis in the absence of fever: an unusual clinical presentation following diarrhea in a young patient

Amin Karimzadeh Kiskani, Tarlaan Hassanaghaei, Nazanin Sanjari Banestani, Faranak Salajegheh et autres

Abstract We present a case of a 23-year-old woman who developed afebrile left-sided sacroiliitis and tricuspid valve endocarditis caused by Staphylococcus aureus, one week after experiencing a bout of diarrhea. The patient presented with bilateral lower extremity weakness and left sacroiliac joint …

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

Mahmoud Reza Ashrafi, Marzieh Babaee, Seyed Saeed Hashemi Nazari, Mohammad Barzegar et autres

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 …

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CHRNE-related congenital myasthenic syndrome in Iran: Clinical and molecular insights

Narges Karimi, Aida Ghasemi, Akram Panahi, Bentolhoda Ziaadini et autres

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Diffusion tensor imaging biomarkers and clinical assessments in amyotrophic lateral sclerosis (ALS) patients: an exploratory study

Saharnaz Pezeshgi, Sadegh Ghaderi, Sana Mohammadi, Narges Karimi et autres

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive loss of upper and lower motor neurons. Biomarkers are needed to improve diagnosis, gauge progression, and evaluate treatment. Diffusion tensor imaging (DTI) is a promising biomarker for detecting microstructural alterations in …

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Lipodystrophy following Covid-19 Vaccination: A case report

Mehrnaz Shakarami, Farnaz Sinaei, Bardiya Ghaderi Yazdi, Bentolhoda Ziaadini

Lipodystrophy is a medical condition characterized by complete or partial loss of adipose tissue. The etiology of lipoatrophy can be congenital or acquired, including traumatic, iatrogenic, or idiopathic. Rarely, vaccination can cause lipodystrophy. Here, we report the first case of lipodystrophy associated …

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DOK7 congenital myasthenic syndrome: case series and review of literature

Bentolhoda Ziaadini, Bardyia Ghaderi Yazdi, Elham Dirandeh, Reza Boostani et autres

BACKGROUND: Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. A mutation in the Docking Protein 7 (Dok-7) is a common cause of CMS. DOK7 CMS requires different treatment than …

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COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum

Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi et autres

BACKGROUND: Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsible for recessive forms of synaptic congenital myasthenic syndromes with end …

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Cerebral venous sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia in middle-income countries

Anita van de Munckhof, Afshin Borhani‐Haghighi, Sanjith Aaron, Katarzyna Krzywicka et autres

Background: Adenovirus-based COVID-19 vaccines are extensively used in low- and middle-income countries (LMICs). Remarkably, cases of cerebral venous sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia (CVST-VITT) have rarely been reported from LMICs. Aims: We studied the frequency, manifestations, treatment, and outcomes …

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Iranian clinical practice guideline for amyotrophic lateral sclerosis

Reza Boostani, Nahid Olfati, Hosein Shamshiri, Zanireh Salimi et autres

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegeneration involving motor neurons. The 3-5 years that patients have to live is marked by day-to-day loss of motor and sometimes cognitive abilities. Enormous amounts of healthcare services and resources are necessary to support …

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Atypical Presentation of Amyloidosis in a Female Patient with Muscle Weakness

Raziyeh Lashkari, Maryam Loghman, Leila Aghaghazvini, Hiva Saffar et autres

Muscle involvement represents a well-recognized but rare manifestation of amyloidosis. Here, we report a 40-year-old female who presented with muscle weakness, musculoskeletal pain, and proteinuria, which was eventually diagnosed as myopathic amyloidosis based on muscle biopsy results. A multidisciplinary approach appears to …

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A retrospective study of the safety and efficacy of rituximab in Iranian patients with myasthenia gravis: A single-center experience

Bentolhoda Ziaadini, Narges Karimi, Akram Panahi, Ali Asghar Okhovat et autres

Background: This retrospective cohort study was conducted to evaluate the efficacy and tolerance of rituximab (RTX) for the management of myasthenia gravis (MG). Methods: This retrospective cross-sectional study was conducted on 61 patients with refractory and non-refractory MG who received RTX. The …

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