Search results for "Early onset"
showing 10 items of 24 documents
Congenital muscular dystrophy: from muscle to brain.
2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder. Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis. In this article, the Authors report on CMDs belonging to the group of dystroglyc…
Tyrosine hydroxylase Val-81-Met polymorphism associated with early-onset alcoholism
2005
The present study examined the association of the Tyrosine hydroxylase Val-81-Met polymorphism with alcohol dependence. One hundred and fifty-nine patients in a psychiatric unit with alcohol dependence were genotyped as well as 92 healthy volunteers. The Val allele was more frequent in patients with alcohol dependence (69.5%) than in controls (62.5%). This effect was largely due to the association with early-onset alcoholism (77.8%), whereas no difference was noted between late-onset patients and controls. Our results suggest a role for tyrosine hydroxylase in early-onset alcoholism.
Functions of adolescent drinking in Finland and the Soviet Union
1987
The present study was conducted in Finland and the USSR (Estonia) with two birth cohorts (14 and 17 years old) and their parents. The subjects, 504 in Finland and 329 in Estonia, were drawn from urban and rural areas. 85% of the Estonian and 55% of the Finnish parents returned the questionnaire. The results supported the hypothesis that adolescent drinking is an age-related behaviour aimed at active coping efforts to adopt adult-like behaviour. In both countries abstinence decreased with age, and the use of alcohol was seen as behaviour which became acceptable at an older age than the age when the actual initiation occurred. However, the use of alcohol remained occasional through the ages o…
Factors affecting the UV-Transparency of Molecular Sieves
1994
The optical properties in the UV-region of several types of molecular sieves were studied. The initial onset of absorption around 280 nm which was observed for basically all samles synthesized without special precautions is not due to an early onset of band gap absorption, but might be correlated to the crystal size as well as structural defects within the crystals, e.g. E'-center or peroxy-radical. Using template free synthesis procedures which lead to small crystals containing few defect sites, we were able to synthesize molevular sieves which were almost completely transparent down to 200 nm. Such crystals can become very important in the development of technical luminophores.
The titanium-made growth-guidance technique for early-onset scoliosis at minimum 2-year follow-up: A prospective multicenter study.
2019
Background The management of early-onset scoliosis (EOS) remains a serious challenge in pediatric orthopedics. The growth-guidance system (GGS) is a surgical option that allows continuous growth along a rod, averting the need for repeated operative lengthening. Objectives The objective of this study was to evaluate the outcomes of the GGS in the treatment of EOS. Material and methods A prospective study, including 81 patients from 4 departments treated with this method from 2013 to 2015, was conducted with a minimum follow-up period of 24 months. The follow-up data of 57 patients was available, thus the drop-out rate was 29.63%. There were 44 girls with a mean age of 10.03 years and 13 boys…
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
2016
Background Primary congenital glaucoma (PCG) and early onset glaucomas are one of the major causes of children and young adult blindness worldwide. Both autosomal recessive and dominant inheritance have been described with involvement of several genes including CYP1B1, FOXC1, PITX2, MYOC and PAX6. However, mutations in these genes explain only a small fraction of cases suggesting the presence of further candidate genes. Methods To elucidate further genetic causes of these conditions whole exome sequencing (WES) was performed in an Italian patient, diagnosed with PCG and retinal detachment, and his unaffected parents. Sanger sequencing of the complete coding region of COL1A1 was performed in…
Early Onset of Guillain–Barré Syndrome Following Lumbar Disc Herniation Surgery: An Unexpected Clinical Evolution
2021
Letter: Guillain–Barré syndrome (GBS), is a neurologic complication rarely reported following a spinal surgery procedure.1, 2, 3, 4, 5, 6 GBS is a potentially fatal, immune-mediated disease of the peripheral nerves and nerve roots that is usually triggered by infections. It is the most common cause of acute flaccid paralysis, with an annual global incidence of approximately 1–2 per 100,000 person-years.7 Although the clinical presentation of the disease is heterogeneous, patients typically present with weakness and sensory signs in the legs that progress to the arms and cranial muscles. Disease progression can be rapid in approximately 20% of patients with respiratory failure requiring mech…
Psychological distress of children with early-onset type 1 diabetes and their mothers' well-being
2015
Aim Few studies have focused on the psychological adjustment of pre-adolescent children with type 1 diabetes. This study examined psychosocial functioning in nine- and 10-year-old children with early-onset type 1 diabetes, and their mothers, and associations between psychosocial functioning and diabetes management. Methods The mothers of 63 children with early-onset diabetes and 86 healthy children evaluated their own psychosocial functioning, and their child's, with standardised rating scales. We used general linear models to analyse the children's behaviour problems and the mothers' well-being. Associations between the children's behaviour problems, diabetes-related measures and the mothe…
Early-onset tobacco use and suicide-related behavior – A prospective study from adolescence to young adulthood
2018
Abstract Background Developmental relationships between tobacco use and suicide-related behaviors (SRB) remain unclear. Our objective was to investigate the longitudinal associations of tobacco use in adolescence and SRB in adulthood. Methods Using a prospective design, we examined whether tobacco use in adolescence is associated with SRB (intentional self-injury, suicide ideation) in young adulthood in a population-based sample of 1330 twins (626 males, 704 females). The baseline and follow-up data were collected by professionally administered semi-structured poly-diagnostic interviews at ages 14 and 22, respectively. Results After adjusting for multiple potential confounders, those who re…