Search results for "Atrophy"

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

2020

ObjectiveTo define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes.MethodsPatients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis and at least 1 cardiac assessment were included. We evaluated the cardiac phenotype in an Atp1a3 knock-in mouse (Mashl+/−) to determine the sequence of events in seizure-related cardiac death.ResultsNinety-eight patients with AHC, 9 with RDP, and 3 with CAPOS (63 female, mean age 17 years) were included. Resting ECG abnormalities…

Fractional CO2 Laser: the new frontier for the treatment of vulvo-vaginal atrophy symptoms

2014

The vulvo-vaginal atrophy (VVA) is a chronic condition characterized by gradual involution of the mucous membranes and vulvo-vaginal tissues, which is manifested in the climacteric phase. Numerous therapeutic options, hormonal and non-hormonal, have been proposed to alleviate the symptoms related to VVA, but to date none of them is able to guarantee long-term effects. The use of Fractional CO2 Laser technology applied to the vulvo-vaginal area represents an innovative procedure to make a real "regeneration treatment" of the vaginal tissues. In fact, it is possible to spread the laser energy in the various layers of the vaginal wall, reactivating the synthesis of extracellular matrix and col…

2015

Age is known to affect prefrontal brain structure and executive functioning in healthy older adults, patients with neurodegenerative conditions and TBI. Yet, no studies appear to have systematically investigated the effect of age on cognitive performance in patients with focal lesions. We investigated the effect of age on the cognitive performance of a large sample of tumour and stroke patients with focal unilateral, frontal (n=68), or non-frontal lesions (n=45) and healthy controls (n=52). We retrospectively reviewed their cross sectional cognitive and imaging data. In our frontal patients, age significantly predicted the magnitude of their impairment on two executive tests (Raven's Advanc…

Increasing power to predict mild cognitive impairment conversion to Alzheimer's disease using hippocampal atrophy rate and statistical shape models

2010

Identifying mild cognitive impairment (MCI) subjects who will convert to clinical Alzheimer's disease (AD) is important for therapeutic decisions, patient counselling and clinical trials. Hippocampal volume and rate of atrophy predict clinical decline at the MCI stage and progression to AD. In this paper, we create p-maps from the differences in the shape of the hippocampus between 60 normal controls and 60 AD subjects using statistical shape models, and generate different regions of interest (ROI) by thresholding the p-maps at different significance levels. We demonstrate increased statistical power to classify 86 MCI converters and 128 MCI stable subjects using the hippocampal atrophy rat…

Hirayama disease – Early MRI diagnosis of subacute medullary ischemia: A case report

2020

Background: Hirayama disease (HD) is a rare, benign, and self-limiting motor neuron disorder that results in selective motor impairment of the C7-T1 myotomes. It is characterized by progressive, unilateral, or bilateral asymmetric muscle atrophy of the distal upper extremities and myelopathy. Case Description: A 23-year-old male presented with bilateral atrophy of the thenar/hypothenar eminences/ interosseous muscles, plus left-hand weakness. The cervical MRI documented subacute ischemic damage of the distal cervical cord. To rule out a tumor and reduce questionable cord compression, the patient underwent a C5–C6 anterior cervical discectomy and fusion (ACDF) immediately followed by a lami…

Therapeutic use of hyaluronic acid fillers in the treatment of corticosteroid-induced skin and subcutaneous atrophy

2016

Corticosteroid injection–related tissue atrophy might cause permanent skin and soft tissue deformities1 due to several factors, most importantly fibroblast inhibition and decreased Type I collagen synthesis. Correction of these deformities is challenging and is mostly based on volume replacement with lipofilling or other methods. Clinical observations and research have shown that injection of stabilized hyaluronic acid (HA) induces collagen synthesis, partially restoring dermal matrix components, and eventually producing a permanent effect.2–5 Based on these data, we hypothesize that HA injections might successfully treat atrophic tissue changes caused by corticosteroid injection. We descri…

Efavirenz induces alterations in lipid metabolism through AMPK activation

2008

Summary of results EFV produced an immediate reduction of mitochondrialfunction, evident by the significant and dose-dependentinhibition of mitochondrial O2 consumption and thedecrease of intracellular ATP and Δψm. This metabolicstress promoted the activation of AMPK, triggering severalof its signalling pathways, as EFV induced an increment inCD36 mRNA expression and in intracellular lipid content,which could have been a result of the formation of lipiddroplets. This intracellular lipid increase was not presentin cells treated with Compound C, which points to a keyrole for AMPK in these mechanisms. Conclusion Given that EFV treatment is usually prolonged, thesemechanisms may effect the gene…

Acid Ceramidase Deficiency

2015

Abstract A deficiency of the lysosomal enzyme ceramidase leads to accumulation of the sphingolipid ceramide in several organs such as skin, liver, brain and other tissues, resulting in a broad spectrum of clinical manifestations. The most common form, called Farber lipogranulomatosis, is characterized by subcutaneous skin nodules and a progressive hoarseness, in many cases also the central nervous system is affected. A lethal hydrops fetalis represents the most severe form. A ceramidase deficiency was also found in a few patients in whom neurological symptoms such as spinal muscular atrophy and myoclonus epilepsy dominated the clinical picture. In the ceramidase gene, which has been mapped …

Local Treatment of Urogenital Atrophy with an Estradiol-Releasing Vaginal Ring: A Comparative and a Placebo-Controlled Multicenter Study

1999

Local estrogen substitution has been shown to be more appropriate than any systemic application for the treatment of urogenital symptoms of hormone defiency. The efficacy, safety and acceptability of a new low-dose drug delivery system consisting of an estradiol-releasing silicone vaginal ring was studied in two multicenter trials. In an open-label comparative trial a total of 219 postmenopausal women were randomized to the estradiol-releasing vaginal ring or to estriol suppositories. In terms of efficacy both treatment arms were shown to be equivalent; however, significantly higher rates of acceptability were found for the vaginal ring. In a double-blinded placebo-controlled study a total …

Panintestinal capsule endoscopy in patients with celiac disease

2021

INTRODUCTION Capsule endoscopy has proven its utility in diagnosing villous atrophy and lymphoma in patients with celiac disease. Recently, a novel capsule endoscopy system was introduced which enables the examination of the small and large bowel. So far, it has not been evaluated in patients with celiac disease. OBJECTIVE The primary objective of this study was to evaluate the novel panintestinal capsule endoscopy system in patients with celiac disease. METHODS Eleven patients with histologically proven celiac disease (Marsh 0-IV), who underwent a panintestinal capsule endoscopy between March 2018 and April 2019 at our institution, were included in this retrospective single-center study. A…