Search results for "Neuropathy"
showing 10 items of 213 documents
Neuropathologic and morphometric studies in hereditary motor and sensory neuropathy type II with neurofilament accumulation.
1986
Histological, electron microscopic and morphometric data on sural nerve, muscle, and skin biopsies of three patients affected by autosomal dominant hereditary motor and sensory neuropathy type II with neurofilament accumulation, whose neurological, cardiological and electrophysiological data have been provided in a previous paper disclosed focally enlarged myelinated axons, due to aggregation of neurofilaments in sural nerves of all 3 biopsied patients, as well as densely packed clusters of filaments in occasional non-myelinated axons without axonal enlargement, in several fibroblasts and endothelial cells in muscle and particularly in skin. This accumulation of filaments was less pronounce…
Clinical spectrum of BICD2 mutations.
2020
Background and purpose Mutations in the BICD2 gene cause autosomal dominant lower extremity-predominant spinal muscular atrophy 2A (SMALED2A), a condition that is associated with a specific pattern of thigh and calf muscle involvement when studied by magnetic resonance imaging (MRI). Patients may present minor clinical sensory impairment, but objective sensory involvement has yet to be demonstrated. Methods We collected clinical data from 11 patients from five different families carrying mutations in BICD2. Genetic diagnosis was achieved using gene panel testing and skin biopsies were taken from two patients to study the epidermal nerve fiber density. Results In the studied patients, three …
The eye in thyroid autoimmunity – Autoimmunité et œil lors de la maladie de Basedow
2014
Thyroid eye disease or thyroid-associated orbitopathy (TAO) is the commonest cause of orbital disease with an inflammatory component. With a basic knowledge of both orbital anatomy and the pathogenesis of TAO, it is easy to understand how its typical constellation of features originates. These features can be considered as primary or secondary. Primary features are those due directly to the disease process affecting a tissue e.g. restrictive myopathy. Secondary features occur due to the interaction of the affected tissue and the anatomical configuration of the tissues e.g. corneal ulceration or optic neuropathy, and are less likely to be florid at presentation. TAO is characterized by an im…
Etiopathological aspects of achalasia: lessons learned with Hirschsprung's disease
2011
SUMMARY The etiology of primary esophageal achalasia is largely unknown. There is increasing evidence that genetic alterations might play an important but underestimated role. Current knowledge of the genetic base of Hirschsprung's disease in contrast is far more detailed. The two enteric neuropathies have several clinical features in common. This association may also exist on a cellular and molecular level. The aim of this review is to enlighten those etiopathogenetic concepts of Hirschsprung's disease that seem to be useful in uncovering the pathological processes causing achalasia. Three aspects are looked at: (i) the genetic base of Hirschsprung's disease, particularly its major suscept…
Correlation Between Ischemic Retinal Accidents and Radial Peripapillary Capillaries in the Optic Nerve Using Optical Coherence Tomographic Angiograph…
2017
Background: Perfusion of the optic nerve has been widely studied using fluorescein angiography (FAG), which is currently regarded as the criterion standard. However, FAG has adverse effects associated with intravenous contrast administration and is limited in its capacity to characterize and stratify the different vascular layers of the optic nerve and retina. The use of new imaging techniques, such as optical coherence tomographic angiography (Angio-OCT), is therefore important. Aim: A qualitative description is made of the vascular layers of the optic nerve and of how vascular events affect radial peripapillary capillaries (RPC). Two patients with central retinal artery occlusion (CRAO), …
AZITHROMYCIN IN AN OLDER WOMAN WITH DIABETIC GASTROPARESIS
2008
Diabetic neuropathy is a common chronic complication of diabetes and cause of significant morbidity and mortality, because it may involve the autonomous and peripheral nervous systems. Autonomic diabetic neuropathy is a challenging chronic complication of long-standing diabetes manifested with hypotension, syncope, gastroparesis, diarrhea, constipation, bladder dysfunction, sexual dysfunction, cardiac arrest, and/or sudden death. We present a case of diabetic gastroparesis in an older woman. The patient was an 83-year-old woman with a 40-year history of type 2 diabetes who was admitted with hypoglycemia, malnutrition, persistent vomiting, and obstinate constipation. After several unsuccessf…
Essential of audiology: screening and postscreening
2014
Newborn hearing screening is a type of screening testfor the early detection of hearing loss. It can recognizewith good accuracy newborns affected by hearingimpairment allowing an early diagnosis and interventionand avoiding cognitive and linguistic deficits [1-6].The incidence of bilateral sensorineural hearing loss(SNHL) in Sicily is 2.35 cases per 1000 newborns; thisvalue increases to 2.95 if we consider also unilateral SNHL[2,3] and to 10 cases per 1000 births among infants at risk[7-9].A correct newborn hearing screening programme isbased on different protocols depending on the presence/absence of audiologic risk factors:† Newborns without risk factors: [1-3]Initial Hearing Screening (…
Chronic inflammatory demyelinating polyradiculoneuropathy: can a diagnosis be made in patients not fulfilling electrodiagnostic criteria?
2021
Background and purpose The aim was to identify the clinical and diagnostic investigations that may help to support a diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in patients not fulfilling the European Federation of Neurological Societies and Peripheral Nerve Society (EFNS/PNS) electrodiagnostic criteria. Methods The data from patients with a clinical diagnosis of CIDP included in a national database were retrospectively reviewed. Results In all, 535 patients with a diagnosis of CIDP were included. This diagnosis fulfilled the EFNS/PNS criteria in 468 patients (87.2%) (definite in 430, probable in 33, possible in three, while two had chronic immune sensory p…
Perifērās neiropātijas izmeklēšana hemodialīzes pacientiem
2018
Pamatinformācija: Hroniska nieru slimība (HNS) ir globāla veselības problēma, kuras vidējā izplatība Eiropā ir 18.4 %. Perifērā neiropātija (PN) ir visizplatītākā neiroloģiskā komplikācija (~ 60 līdz 100 %) šiem pacientiem. PN diagnoze ietver padziļinātu klīnisko izmeklēšanu, tai skaitā pacienta slimības vēstures analīzi, neiroloģisko izmeklēšanu, laboratorisko testēšanu un elektrofizioloģiskās izmeklēšanas metodes. Skrīninga metodes var palīdzēt agrīni noteikt PN HNS pacientiem un laicīgi sākt terapiju, mainot slimības attīstības gaitu. Mērķis: Noteikt perifēro neiropātiju HNS pacientiem ar Mičiganas neiropātijas skrīninga metodes (MNSI) palīdzību, kas apstiprināta un pielietota cukura dia…
Vitamin D in the Prevention and Treatment of Diabetic Neuropathy.
2022
Neuropathy is one of the most important complications of diabetes. According to recent advances, vitamin D deficiency might play a role in the development and progression of diabetic neuropathy. Moreover, therapeutic vitamin D supplementation has the potential to improve this condition. The aim of the present review was to summarize new data available in this area.The PubMed database was searched for articles written in English and published through September 2021, using combinations of the following key words: vitamin D, diabetes, diabetes mellitus, diabetic neuropathy, polyneuropathy, peripheral neuropathy, cardiac autonomic neuropathy, supplementation, and therapy.A number of studies hav…