Search results for "Expansion"
showing 10 items of 630 documents
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily
2015
Greek colonisation of South Italy and Sicily (Magna Graecia) was a defining event in European cultural history, although the demographic processes and genetic impacts involved have not been systematically investigated. Here, we combine high-resolution surveys of the variability at the uni-parentally inherited Y chromosome and mitochondrial DNA in selected samples of putative source and recipient populations with forward-in-time simulations of alternative demographic models to detect signatures of that impact. Using a subset of haplotypes chosen to represent historical sources, we recover a clear signature of Greek ancestry in East Sicily compatible with the settlement from Euboea during the…
Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions
2017
Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in the ataxin 10 gene. In a subset of SCA10 families, the 5'-end of the repeat expansion contains a complex sequence of penta- and heptanucleotide interruption motifs which is followed by a pure tract of tandem ATCCT repeats of unknown length at its 3'-end. Intriguingly, expansions that carry these interruption motifs correlate with an epileptic seizure phenotype and are unstable despite the theory that interruptions are expected to stabilize expanded repeats. To examine the apparent contradiction of unstable, interruption-positive SCA10 e…
Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis
2020
Amyotrophic lateral sclerosis (ALS) is a multifactorial disease characterized by the interplay of genetic and environmental factors. In the majority of cases, ALS is sporadic, whereas familial forms occur in less than 10% of patients. Herein, we present the results of molecular analyses performed in a large cohort of Italian ALS patients, focusing on novel and already described variations in ALS-linked genes. Our analysis revealed that more than 10% of tested patients carried a mutation in one of the major ALS genes, with C9orf72 hexanucleotide expansion being the most common mutation. In addition, our study confirmed a significant association between ALS patients carrying the ATNX-1 interm…
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
2012
It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (familial ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1,757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1,523 from mainland Italy. Sixty (3.7%) of 1,624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally-matched control samples (1,238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified d…
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
2013
The C9ORF72 Spanish Study Group, et al.
Economic cycles and inequalities in alcohol‐related mortality in the Baltic countries and Finland in 2000–2015: a register‐based study
2021
Publisher Copyright: © 2021 The Authors. Addiction published by John Wiley & Sons Ltd on behalf of Society for the Study of Addiction. Aim: To estimate whether large macroeconomic fluctuations in the 2000s affected inequalities in alcohol-related mortality in the Baltic countries and Finland. Design: Longitudinal register-based follow-up study. Setting: Estonia, Latvia, Lithuania and Finland. Participants: General population in the 35–74 age group. Measurements: Socioeconomic status was measured by the highest achieved educational level and was categorised using the International Standard Classification of Education 2011 as low (included categories 0–2), middle (3–4), and high (5–8). Educat…
ATXN2 trinucleotide repeat length correlates with risk of ALS
2017
We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS. There was an overall increased risk of ALS for those carry…
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
2013
Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The difficulty of developing a precise method to determine the expansion size has hampered the study of possible correlations between the hexanucleotide repeat number and clinical phenotype. Here we characterize, through a new non-radioactive Southern blot protocol, the expansion size range in a series of 38 ALS and 22 FTD heterozygous carriers of >30 copies of the repeat. Maximum, median and modal hexanucleotide repeat number were higher in ALS patients than in FTD patients (P < 0.05 in all comparisons). A higher median numb…
Changes in nasal air flow and school grades after rapid maxillary expansion in oral breathing children
2011
Objective: To analyse the changes in nasal air flow and school grades after rapid maxillary expansion (RME) in oral breathing children with maxillary constriction. Material and Methods: Forty-four oral breathing children (mean age 10.57 y) underwent orthodontic RME with a Hyrax screw. Forty-four age-matched children (mean age 10.64 y) with nasal physiological breathing and adequate transverse maxillary dimensions served as the control group. The maxillary widths, nasal air flow assessed via peak nasal inspiratory flow (PNIF), and school grades were recorded at baseline, and 6 months and one year following RME. Results: After RME, there were significant increases in all the maxillary widths …
Rapid palatal expansion: the role of microcirculation
2015
Transverse palate modifications fall under expansive orthopedic therapy of the upper maxilla. The only practical approach to the problem on the transverse plane is that of performing the expansion of the maxillary arch through an opening of the median palatal suture. It is important to understand the changes of the vascular network in midpalatal suture following the starting of rapid maxillary expansion. It is critical to maintain the blood supply and circulation for the osteogenesis and bone remodeling after the expansion. The aim of this research was to evaluate the effects of rapid orthopedic expansion (REP) at the microcirculatory level through capillaroscopic examination. METHODS: Fift…