Moya-moya

BACKGROUND: Turner syndrome (TS) is a rare condition associated with a completely or partially missing X chromosome that affects 1 in 2500 girls. TS increases the risk of autoimmune diseases, including Graves' disease (GD). Moyamoya disease is a rare cerebral arteriopathy of unknown etiology characterized by progressive bilateral stenosis of the internal carotid artery and its branches. Both TS and GD have been associated with Moyamoya. Type 2 spinocerebellar ataxia (SCA2) is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in ATXN2...

Moyamoya disease is characterized by narrowing of cerebral blood vessels and is progressive in nature. We present the case of a 21-year-old female patient who was a known case of Down's syndrome and presented with right-sided facial muscle weakness and was initially suspected of having cholesteatoma, but no evidence for the same was found after extensive radiological investigations. The suspicion of a central nervous system pathology was raised due to the clinical findings of dysphasia and supranuclear facial palsy...

BACKGROUND: Moya Moya disease (MMD) and Moya Moya syndrome (MMS) are cerebrovascular disorders, which affect the internal carotid arteries (ICAs). Diagnosis and surveillance of MMD/MMS in children mostly rely on qualitative evaluation of vascular imaging, especially MR angiography (MRA). OBJECTIVE: To quantitatively characterize arterial differences in pediatric patients with MMD/MMS compared with normal controls. METHODS: MRA data sets from 17 presurgery MMD/MMS (10M/7F, mean age = 10...

Schimke immuno-osseous dysplasia (SIOD) is an uncommon autosomal recessive (AR) spondylo-epiphyseal dysplasia (SED) and its clinical course and phenotype are yet to be properly described. The phenotypic presentation is quite varied with involvement of the renal, skeletal, vascular, immune, and hematopoietic systems being the most common presentation. We describe a 19-year-old female who presented with adolescent-onset brain and skeletal involvement without renal manifestations. Based on imaging and clinical features, she was diagnosed with a case of SIOD...

No abstract text is available yet for this article.

INTRODUCTION: Resident physicians' proper use of nutritional support and knowledge about Clinical Nutrition is essential to ensuring that their patients receive suitable nutritional care. MATERIALS AND METHOD: An online survey was sent to resident physicians at our hospital in specialisations with hospital beds. The survey featured 20 multiple-choice questions scored from 1 to 10 (1 being "completely disagree" and 10 being "completely agree") across the following themes: nutritional assessment, diets, oral nutritional supplements, enteral nutrition and perception of the Nutrition Unit...

Varicella-zoster virus (VZV) infection is notorious for central nervous system involvement, the spectrum of which encompasses vasculopathic manifestations as well. Central nervous system VZV vasculopathy (CVV) most commonly manifests as ischemic strokes or TIA, even though other less common modes of presentation are also well documented in the literature. The pathophysiological mechanism is primarily attributed to active virus infection in the blood vessels secondary to decline in varicella-specific cell-mediated immunity...

INTRODUCTION: A case report is a scientific article describing one or more patients with unusual clinical presentations. In recent years, the number of case reports in publications has decreased. In this study, we analyze the publication of case reports in journals of Endocrinology during the years 2010, 2015 and 2019. MATERIALS AND METHODS: The Pubmed web was browsed for clinical journals of Endocrinology, those published in English and/or Spanish being selected, and the relevant variables analyzed...

OBJECTIVE: Analysis of etiopathogenetic factors and features of the course of hemorrhagic stroke in young people. MATERIAL AND METHODS: A retrospective analysis of 402 case histories with non-traumatic hemorrhagic stroke was carried out, of which 60 (14.93%) patients were young. The average age was 37.37±5.09 years. There were 19 (31.7%) females and 41 (68.3%) males. Statistical data processing was carried out using Microsoft Office 2010 and SPSS v.26. RESULTS: The main causes of hemorrhagic stroke in young people were changes in cerebral vessels by the type of aneurysmal deformation of the vascular wall, including Moya-Moya disease, and arteriovenous malformations (60%)...

Moya Moya disease is an important cause for childhood strokes and morbidity. An early diagnosis and treatment can prevent strokes and disability. Here we report the case of an eight-year-old boy who had transient episodes of headache and hemiparesis secondary to Moya Moya disease. He was misdiagnosed as hemiplegic migraine, seizure disorder, paroxysmal non-kinesigenic dyskinesia and dissociative disorder during the past three years. The diagnosis was significantly delayed as an important clinical cue was overlooked...

OBJECTIVES: Luminal-based imaging have identified different risk factors for extracranial and intracranial atherosclerosis (ICAS), but these techniques are known to underestimate the true extent of the disease. High-resolution (HR) vessel wall imaging (VWI) has recently gained recognition as a valuable tool in the assessment of ICAS. The aim of this study is to determine the association between cardiovascular risk factors and specific intracranial vessel segment involvement using HR-VWI...

BACKGROUND: The use of the classic 2-ends anchoring technique is common in end-to side (ES) microvascular anastomosis. The literature on the toe-first (TF) technique is limited. In the current study we present the successful outcomes with the TF technique in ES anastomoses in rat femoral vessels model. METHODS: ES microvascular anastomosis with the tf technique was performed in the femoral vessels of 10 Sprague Dawley rats. Two-throw reef knot interrupted sutures were used in all cases...

INTRODUCTION: Resident physicians' proper use of nutritional support and knowledge about Clinical Nutrition is essential to ensuring that their patients receive suitable nutritional care. MATERIALS AND METHOD: An online survey was sent to resident physicians at our hospital in specialisations with hospital beds. The survey featured 20 multiple-choice questions scored from 1 to 10 (1 being "completely disagree" and 10 being "completely agree") across the following themes: nutritional assessment, diets, oral nutritional supplements, enteral nutrition and perception of the Nutrition Unit...

INTRODUCTION: A case report is a scientific article describing one or more patients with unusual clinical presentations. In recent years, the number of case reports in publications has decreased. In this study, we analyze the publication of case reports in journals of Endocrinology during the years 2010, 2015 and 2019. MATERIALS AND METHODS: The Pubmed web was browsed for clinical journals of Endocrinology, those published in English and/or Spanish being selected, and the relevant variables analyzed...

In order to prevent stroke, screening for disease-related intracranial vasculopathy using Doppler is recommended in sickle-cell disease (SCD) children. How to screen such vasculopathy in adults remains largely unknown. The objective of this study was to assess whether Transcranial color-coded duplex sonography (TCCD) is sensitive and specific to identify SCD adult patients with vasculopathy, compared with magnetic resonance angiography (MRA). SCD adults followed in referral centers at high risk of vasculopathy were included in this study...

[This corrects the article DOI: 10.1371/journal.pone.0243925.].

BACKGROUND AND PURPOSE: Polymorphisms in Ring Finger Protein 213 (RNF 213) gene have been detected to confer genetic susceptibility to Moya moya disease (MMD) in the East Asian population. We investigated the frequency of RNF 213 gene polymorphism and its association with MMD phenotypes in the Indian population. MATERIALS AND METHODS: A case-control study for RNF 213 polymorphism involving 65 MMD patients, 75 parents, and 120 controls were performed. A total of 21 SNPs were screened, of which 17 SNPs were monomorphic...

No abstract text is available yet for this article.

Combined direct and indirect bypass have been described in the literature as a complementary technique.1 Direct superficial temporal artery-to-middle cerebral artery bypass is a cornerstone for adult moyamoya disease and syndrome as it provides immediate vascular supply.2 However, the donor vessel caliber and thus blood flow are subject to decrease over time, mainly due to new collateral formation.3 Encephaloduroarteriosynangiosis provides long-term blood supply and new collateral formation. We describe a case of progressive left internal carotid artery communicating segment atherosclerosis in a 34-year-old woman...

Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the CYP4V2 gene and characterized by the presence of multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE) and chorioretinal atrophy. The additional presence of glittering dots located at the corneal limbus is also a frequent finding. The CYP4V2 protein belongs to the cytochrome P450 subfamily 4 and is mainly expressed in the retina and the RPE and less expressed in the cornea...