Search results for "sporadic"

Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)

2018

Background: Genetic studies of late-onset sporadic ataxias (>40 years of age) are not routinely indicated. For unresolved cases, next-generation sequencing (NGS) tools, such as whole-exome sequencing (WES), are available for a definitive diagnosis.Case presentation: Our patient is a woman with a usual facial phenotype and anthropometry, who developed ataxia at 45 years of age, with no relevant family history and an initial clinical approach that ruled out common aetiologies. WES was performed when the patient was 54 years old. The results identified the heterozygous pathogenic variant c.248delA (p.N83MfsX4) in the nuclear receptor-binding SET domain protein 1 (NSD1; MIM 606681) gene (rel…

Red Blood Cell Distribution Width, Vascular Aging Biomarkers, and Endothelial Progenitor Cells for Predicting Vascular Aging and Diagnosing/Prognosin…

2018

The emerging evidence emphasizes Red blood cell distribution width (RDW) as optimal prognostic biomarker for cardiovascular diseases. However, several clinical biases impede its clinical application. Recent recommendations suggest combining RDW with other biomarkers. Accordingly, we propose evaluating the well-recognized biomarkers of vascular aging (i.e., the leukocyte telomere length and telomerase activity, and reduced levels of endothelial progenitor cells [EPCs]) with RDW, for predicting the risk for vascular aging and onset and prognosis of age-related degenerative arterial diseases, such as sporadic ascending aorta aneurysm (AAA), characterized to have an increased incidence in old p…

Acute onset of bulbar amyotrophic lateral sclerosis after flu – look at the differential diagnosis: A case report

2018

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting upper and lower motor neurones. It can be either familial (fALS) or sporadic (sALS). ALS is characterized by muscle weakness and atrophy that can involve the limbs and trunk (i.e. the spinal form of the disease) or speech and swallowing (i.e. the bulbar form). The aetiology of sALS remains unclear although a gene–environment interaction has been proposed as a concomitant trigger for the neurodegenerative process together with viral infections, smoking, heavy metals and pesticide exposure. Herein, we report the case of a 67-year-old woman who experienced an acute onset of bulbar ALS with an atypical clinical cours…

Alzheimer's disease associated with sporadic cerebral amyloid angiopathy in an elderly patient

2015

FUS mutations in sporadic amyotrophic lateral sclerosis

2011

Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease. © 2010 .

Predictive chromosomal clusters of synchronous and metachronous brain metastases in clear cell renal cell carcinoma

2014

Synchronous (early) and metachronous (late) brain metastasis (BM) events of sporadic clear cell renal cell carcinoma (ccRCC) (n = 148) were retrospectively analyzed using comparative genomic hybridization (CGH). Using oncogenetic tree models and cluster analyses, chromosomal imbalances related to recurrence-free survival until BM (RFS-BM) were analyzed. Losses at 9p and 9q appeared to be hallmarks of metachronous BM events, whereas an absence of detectable chromosomal changes at 3p was often associated with synchronous BM events. Correspondingly, k-means clustering showed that cluster 1 cases generally exhibited low copy number chromosomal changes that did not involve 3p. Cluster 2 cases ha…

Analysis of thiamine transporter genes in sporadic beriberi

2014

Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…

On 𝓕-subnormal subgroups and Frattini-like subgroups of a finite group

1994

Throughout the paper we consider only finite groups.J. C. Beidleman and H. Smith [3] have proposed the following question: “If G is a group and Ha subnormal subgroup of G containing Φ(G), the Frattini subgroup of G, such that H/Φ(G)is supersoluble, is H necessarily supersoluble? “In this paper, we give not only an affirmative answer to this question but also we see that the above result still holds if supersoluble is replaced by any saturated formation containing the class of all nilpotent groups.

Are the leukocyte telomere length attrition and telomerase activity alteration potential predictor biomarkers for sporadic TAA in aged individuals?

2014

A large variability in occurrence, complications, and age/gender manifestations characterizes individual susceptibility of sporadic thoracic aortic aneurysms (TAA), even in subjects with the same risk factor profiles. The reasons are poorly understood. On the other hand, TAA pathophysiology mechanisms remain unclear than those involved in abdominal aorta aneurysms. However, recent evidence is suggesting a crucial role of biological ageing in inter-individual risk variation of cardiovascular diseases, including sporadic TAA. Biological age rather than chronological age is a better predictor of vascular risk. Relevant assumptions support this concept. In confirming this evidence and our preli…

On a class of generalised Schmidt groups

2015

In this paper families of non-nilpotent subgroups covering the non-nilpotent part of a finite group are considered. An A 5 -free group possessing one of these families is soluble, and soluble groups with this property have Fitting length at most three. A bound on the number of primes dividing the order of the group is also obtained.