Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

DYT16: the original cases.

ABSTRACT: OBJECTIVE:DYT16 is an autosomal recessive dystonia-parkinsonism due to putative mutations at PRKRA gene. The aim of this study was to describe clinical features providing video documentation of patients with DYT16 dystonia. METHODS:We examined and videotaped all homozygous carriers of the DYT16 gene. RESULTS:We identified two phenotypes, generalised dystonia and dystonia-parkinsonism non-responsive to levo-dopa, with three patients belonging to each of the groups. There was inter-individual and intra-family phenotypic heterogeneity. CONCLUSIONS:DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism. Patients are refractory to pharmacological therapy.

SUBMITTER: Camargos S

PROVIDER: S-EPMC6376866 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

DYT16: the original cases.

Camargos Sarah S Lees Andrew J AJ Singleton Andrew A Cardoso Francisco F

Journal of neurology, neurosurgery, and psychiatry 20120728 10

<h4>Objective</h4>DYT16 is an autosomal recessive dystonia-parkinsonism due to putative mutations at PRKRA gene. The aim of this study was to describe clinical features providing video documentation of patients with DYT16 dystonia.<h4>Methods</h4>We examined and videotaped all homozygous carriers of the DYT16 gene.<h4>Results</h4>We identified two phenotypes, generalised dystonia and dystonia-parkinsonism non-responsive to levo-dopa, with three patients belonging to each of the groups. There was ...[more]

PMID: 22842711

Similar Datasets

Original findings associated with two cases of bovine papular stomatitis.

Project description:Bovine papular stomatitis virus was isolated from two calves in an animal house with biosafety level 3 confinement. The hypotheses on the origin of the infection, the interesting features of the partial amino acid sequences of the major envelope viral protein, and the importance of diagnostic tools available for animal diseases that are not listed by the World Organization for Animal Health (OIE) are discussed.

| S-EPMC3233010 | biostudies-literature

Making the Difference in Occupational Health: Three Original and Significant Cases Presented at ICOH Congresses in the 20<sup>th</sup> Century.

Project description:BackgroundThe aim of this study is to illustrate the historical role of the International Commission on Occupational Health (ICOH) congresses as an arena where national and international occupational medicine can dialogue and as the first example of scientific transferability of the research and prevention results that have had such an impact on global public health.MethodsWe used the ICOH Heritage Repository, in which ICOH congress proceedings (from the first congress in Milan in 1906 to the last congress, held in Dublin in 2018), are organised in an orderly way, updated and easily accessible according to open access logic.ResultsWe describe studies by three physicians who submitted significant scientific work to ICOH congresses, one on the battle against ancylostomiasis (Volante, 1906), the second (Quarelli, 1928) on carbon disulphide poisoning, and the third (Viola, 1969) on the carcinogenicity of vinyl chloride monomer. Priority is given to Italian cases, on account of the authors' obvious familiarity with the issues.ConclusionThe visibility offered in ICOH conferences and their published proceedings has boosted the international spread of their findings, contributing to the scientific transferability of the research results and influencing the development of policies and prevention interventions that have had a great impact on global public health.

| S-EPMC7303537 | biostudies-literature

MTHFR 677C>T polymorphism and the risk of breast cancer: evidence from an original study and pooled data for 28031 cases and 31880 controls.

Project description:BackgroundMethylenetetrahydrofolate reductase (MTHFR) acts at an important metabolic point in the regulation of cellular methylation reaction. It assists in the conversion of 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. The latter aids in remethylation of homocysteine to de novo methionine that is required for DNA synthesis. The objective of this study was to examine the effect of MTHFR 677 C>T polymorphism on the risk of breast cancer in the Indian sub-continent.Methods and resultsWe genotyped 677 C>T locus in 1096 individuals that were classified into cases (N=588) and controls (N=508). Genotype data were analyzed using chi-square test. No significant difference was observed in the distribution of genotypes between cases and controls in north Indian (P = 0.932), south Indian (P = 0.865), and pooled data (P = 0.680). To develop a consensus regarding the impact of 677C>T polymorphism on breast cancer risk, we also conducted a meta-analysis on 28031 cases and 31880 controls that were pooled from sixty one studies. The overall summary estimate upon meta-analysis suggested no significant correlation between the 677C>T substitution and breast cancer in the dominant model (Fixed effect model: OR = 0.97, P=0.072, Random effects model: OR = 0.96, P = 0.084) or the recessive model (Fixed effect model: OR = 1.05, P = 0.089; Random effects model: OR= 1.08, P= 0.067).Conclusion677 C>T substitution does not affect breast cancer risk in the Indo-European and Dravidian populations of India. Analysis on pooled data further ruled out association between the 677 C>T polymorphism and breast cancer. Therefore, 677 C>T substitution does not appear to influence the risk of breast cancer.

| S-EPMC4372432 | biostudies-literature

PICU cases

Project description:PICU cases

| PRJEB73551 | ENA

Accelerating the Original Profile Kernel.

Project description:One of the most accurate multi-class protein classification systems continues to be the profile-based SVM kernel introduced by the Leslie group. Unfortunately, its CPU requirements render it too slow for practical applications of large-scale classification tasks. Here, we introduce several software improvements that enable significant acceleration. Using various non-redundant data sets, we demonstrate that our new implementation reaches a maximal speed-up as high as 14-fold for calculating the same kernel matrix. Some predictions are over 200 times faster and render the kernel as possibly the top contender in a low ratio of speed/performance. Additionally, we explain how to parallelize various computations and provide an integrative program that reduces creating a production-quality classifier to a single program call. The new implementation is available as a Debian package under a free academic license and does not depend on commercial software. For non-Debian based distributions, the source package ships with a traditional Makefile-based installer. Download and installation instructions can be found at https://rostlab.org/owiki/index.php/Fast_Profile_Kernel. Bugs and other issues may be reported at https://rostlab.org/bugzilla3/enter_bug.cgi?product=fastprofkernel.

| S-EPMC3688983 | biostudies-literature

Ludwig's Angina: The Original Angina.

Project description:Ludwig's angina was first detailed by the German surgeon Wilhelm Friedrich von Ludwig in 1836. We present a case which needed awake fibreoptic intubation due to severe trismus and a prolonged period intubated in the Intensive Care Unit after incision and drainage of neck spaces and removal of his lower wisdom teeth. He was finally discharged a week after admission and followed up in the outpatient clinic. The case is presented with clinical photographs and a video of the fibreoptic intubation to illustrate the airway.

| S-EPMC3674689 | biostudies-literature

Human rectal adenoma (8 cases) vs. rectal carcinoma (8 cases)

Project description:Genomic profiling of human rectal adenoma and carcinoma by array-based comparative genomic hybridization

2011-12-20 | GSE34472 | GEO

HCMV paediatric cases

Project description:Longitudinal whole genome sequencing of cytomegalovirus from children

| PRJEB12814 | ENA

Legionella - Humidifier Cases

Project description:Design and application of a core genome multilocus sequence typing scheme for investigation of Legionnaires' disease incidents.

| PRJEB7140 | ENA

HCMV SOT cases

Project description:Longitudinal whole genome sequencing of cytomegalovirus from solid organ transplant recipients (liver/kidney)

| PRJEB55701 | ENA