Search results for "Neuropathy"

A Rare Case of Docetaxel-Induced Hydrocephalus Presenting with Gait Disturbances Mimicking and Coexisting with Taxane-Associated Polyneuropathy: The …

2017

Docetaxel constitutes a widely used chemotherapeutic agent as a first-line treatment for several neoplastic diseases. One of the most common side effects induced by this drug is polyneuropathy, which among other symptoms can cause gait disbalance. However, in exceptional cases gait disturbances could be related to docetaxel-induced hydrocephalus, a rare event that up to the present has been overseen throughout the medical literature and should be meticulously differentiated from polyneuropathy, since its clinical features, treatment, and prognosis differ drastically. We present the case of a woman with a progressive gait disturbance that started immediately after having been treated with do…

Adherence and Reactogenicity to Vaccines against SARS-COV-2 in 285 Patients with Neuropathy: A Multicentric Study

2022

Background: The safety of the new vaccines against SARS-CoV-2 have already been shown, although data on patients with polyneuropathy are still lacking. The aim of this study is to evaluate the adherence to SARS-CoV-2 vaccination, as well as the reactogenicity to those vaccines in patients affected by neuropathy. Methods: A multicentric and web-based cross-sectional survey was conducted among patients affected by neuropathy from part of South Italy. Results: Out of 285 responders, n = 268 were included in the final analysis and n = 258 of them (96.3%) were fully vaccinated. Adherence to vaccination was higher in patients with hereditary neuropathies compared to others, while it was lower in …

Pleomorphic anaplastic neuroblastoma

2000

Dejerine-Sottas neuropathy associated with De Novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene

1998

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth

2012

Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). Here we address the findings of a genetic study of 29 Gypsy Spanish families with autosomal recessive demyelinating CMT. The most frequent form is CMT4C (57.14%), followed by HMSN-Russe (25%) and HMSN-Lom (17.86%). The relevant frequency of HMSN-Russe has allowed us to inv…

Indication of a common origin of German and American Families with Familial Amyloidneuropathy Typ II

1999

Abstract The classification of familial amyloid neuropathies (FAP) is traditionally based on clinical and regional aspects. In the last 10 years more than 40 mutations of the transthyretin gene have been found to be responsible for different clinical forms of amyloidosis including familial FAP.FAP II is caused by a mutation on the codon 58 of the transthyretin gene. Only two american kindreds (the Maryland/German and the Ohio family) have previously been reported with FAP II starting in the 3rd or 4th decade by sensory disturbances of the hands typically as a carpal tunnel syndrome. We report on a german family with FAP II from the rhine river area south of Mainz. Four members with typical …

Is quality of life different between diabetic and non-diabetic people? The importance of cardiovascular risks.

2017

BackgroundTo analyse and compare the impact of cardiovascular risk factors and disease on health-related quality of life (HRQoL) in people with and without diabetes living in the community.MethodsWe used data of 1,905 people with diabetes and 19,031 people without diabetes from the last Spanish National Health Survey (years 2011 +/- 2012). The HRQoL instrument used was the EuroQol 5D-5L, based on time trade-off scores. Matching methods were used to assess any differences in the HRQoL in people with and without diabetes with the same characteristics (age, gender, education level, and healthy lifestyle), according to cardiovascular risk factors and diseases. Disparities were also analysed for…

Akutes Nierenversagen auf dem Boden einer Hyperkalzämie und periphere Polyneuropathie – seltene Manifestationen einer Sarkoidose

2000

Hintergrund: Als Systemerkrankung kann die Sarkoidose alle Organsysteme befallen. Neben dem haufigen Befall von Lungen und thorakalen Lymphknoten kommen auch seltene Manifestationen wie Nierenversagen und eine Beteiligung des Nervensystems vor. Fallbericht: Ein 57-jahriger Patient wurde nach einem Urlaub im Suden mit Belastungsdyspnoe und akutem Nierenversagen bei Hyperkalzamie stationar aufgenommen. Der klinische Verdacht einer Sarkoidose als Grunderkrankung mit den ausergewohnlichen extrapulmonalen Manifestationen einer Kalziumnephropathie sowie einer sensiblen Polyneuropathie lies sich bestatigen. Schlusfolgerung: Dieser Fall zeigt, dase eine asymptomatische Sarkoidose durch vermehrte UV…

Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: A single-center experience

2010

Liver transplantation (LT) is the only curative option for patients with familial amyloid polyneuropathy (FAP) at present. Twenty patients with FAP underwent LT between May 1998 and June 2007. Transthyretin mutations included predominantly the Val30Met mutation but also 10 other mutations. Seven patients received a pacemaker prior to LT, and because of impairment of mechanical cardiac function, 4 combined heart-liver transplants were performed, 1 simultaneously and 3 sequentially. The first patient, who underwent simultaneous transplantation, died. Seven patients died after LT, with 5 dying within the first year after transplantation. The causes of death were cardiac complications (4 patien…

Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

2021

Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.