Search results for "Statu"
showing 10 items of 2961 documents
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
2019
In 2011, KIAA1033/WASHC4 was associated with autosomal recessive intellectual disability (ARID) in a large consanguineous family comprising seven affected individuals with moderate ID and short stature. Since then, no other cases of KIAA1033 variants have been reported. Here we describe three additional patients (from two unrelated families) with syndromic ID due to compound heterozygous KIAA1033 variants ascertained by exome sequencing (ES). Two sisters, aged 4 and 5.5 years, had a stop-gain and a missense variants, each inherited from one parent (p.(Gln442*) and p.(Asp1048Gly)). Both had learning disabilities, macrocephaly, dysmorphic features, skeletal anomalies, and subependymal heterot…
Adequate Urinary Iodine Concentration among Infants in the Inland Area of Norway
2021
Considering the importance of iodine to support optimal growth and neurological development of the brain and central nervous system, this study aimed to assess and evaluate iodine status in Norwegian infants. We collected data on dietary intake of iodine, iodine knowledge in mothers, and assessed iodine concentration in mother’s breast milk and in infant’s urine in a cross-sectional study at two public healthcare clinics in the inland area of Norway. In the 130 mother–infant pairs, the estimated infant 24-h median iodine intake was 50 (IQR 31, 78) µg/day. The median infant urinary iodine concentration (UIC) was 146 (IQR 93, 250) µg/L and within the recommended median defined by the World He…
Effect of Occupational Exposure on A(H1N1)pdm09 Infection and Hospitalization.
2016
OBJECTIVE To analyze relationships between occupational exposure and influenza infection and hospitalization during the 2009-2010 pandemic wave and the 2010-2011 influenza seasonal epidemic in Spain. METHODS Occupations were classified as high, medium, or low risk of influenza exposure. To assess the risk of infection, 588 outpatient cases of influenza confirmed by reverse-transcription polymerase-chain-reaction (RT-PCR) were compared with 588 outpatients without influenza symptoms. To assess the risk of hospitalization, 337 outpatient influenza cases were compared with 337 inpatient influenza cases. RESULTS The high risk of occupational exposure group was composed only of health care worke…
Does the educational level of women influence hand grip and pinch strength in carpal tunnel syndrome?
2020
Abstract Background Grip and pinch strength are relevant functional variables for various activities of daily life and are related to the quality of life of patients with carpal tunnel syndrome (CTS). Objective The main aim was to analyze the relationship between grip and pinch strength and the educational level in women with CTS. Study design Cross-sectional study. Methods Thirty-one female patients with CTS awaiting surgery were assigned to the low education group if they only had primary education level (completed or not) and the high education group for those having higher education level. The assessments included: grip strength, pinch strength, Visual Analogue Scale, Quick DASH Questio…
Gene-environment interactions between education and body mass: Evidence from the UK and Finland
2017
More education is associated with a lower body mass index (BMI) and likelihood of being overweight. However, since a large proportion of the variation in body mass is due to genetic makeup, it has been hypothesized that education may moderate the genetic risk. We estimate main associations between (i) education, (ii) genetic risk, and (iii) interactions between education and genetic risk on BMI and the probability of being overweight in the UK and Finland. The estimates show that education is negatively associated with BMI and overweightness, and genetic risk is positively associated. However, the interactions between education and genetic risk are small and statistically insignificant. pee…
From lymphopoiesis to plasma cells differentiation, the age-related modifications of B cell compartment are influenced by “inflamm-ageing”
2017
Ageing is a complex process characterized by a general decline in physiological functions with increasing morbidity and mortality. The most important aspect of ageing is the chronic inflammatory status, named âinflamm-ageingâ, strictly associated with the deterioration of the immune function, termed âimmunosenescenceâ. Both are causes of increased susceptibility of elderly to infectious diseases, cancer, dementia, cardiovascular diseases and autoimmunity, and of a decreased response to vaccination. It has been widely demonstrated that ageing has a strong impact on the remodelling of the B cell branch of immune system. The first evident effect is the significant decrease in circulati…
Nutraceutical effects of table green olives: a pilot study with Nocellara del Belice olives
2016
Background: The aim of this study was to analyse the nutraceutical properties of table green olives Nocellara del Belice, a traditional Mediterranean food. The Mediterranean Diet has as key elements olives and extra virgin olive oil, common to all Mediterranean countries. Olive oil is the main source of fat and can modulate oxidative stress and inflammation, whereas little is known about the role of olives. Moreover, emerging evidences underline the association between gut microbiota and food as the basis of many phenomena that affect health and delay or avoid the onset of some age-related chronic diseases. Methods: In order to show if table green olives have nutraceutical properties and/or…
In vitro effects of vitamins C and E, n-3 and n-6 PUFA and n-9 MUFA on placental cell function and redox status in type 1 diabetic pregnant women.
2016
IF 2.972; International audience; The aim of this investigation was to determine the in vitro effects of vitamin C and E, n-3 and n-6 PUFA and n-9 MUFA on placental cell proliferation and function in type 1 diabetes. Placenta tissues were collected from 30 control healthy and 30 type 1 diabetic women at delivery. Placental cells were isolated and were cultured in RPMI medium supplemented with vitamin C (50 μM), vitamin E (50 μM), n-3 PUFA (100 μM), n-6 PUFA (100 μM) or n-9 MUFA (100 μM). Cell proliferation, cell glucose uptake and intracellular oxidative status were investigated. Our results showed that basal placental cell proliferation, glucose uptake, malondialdehyde (MDA) and carbonyl p…
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
2017
Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B) and subsequent intracellular accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin-4-sulfate. Manifestations are multi-systemic and include skeletal abnormalities such as dysostosis multiplex and short stature. Reference height-for-age growth charts for treatment-naive MPS VI patients have been published for both the slowly and rapidly progressing populations. Categorization of disease progression for these charts was based on urinary GAG (uGAG) level; high (>200μg/mg creatinine) levels identified …
An Algorithm Combining Patient Performance Status, Second Hit Analysis, PROVEAN and Dann Prediction Tools Could Foretell Sensitization to PARP Inhibi…
2021
Simple Summary PARP inhibitors, a family of targeted cancer therapeutics, have been shown to be efficient in patients with some deficiencies in the homologous recombination machinery. However, a quick and reliable identification of patients who would benefit from such therapies remains a challenge. In particular, patients with tumors carrying variants of unknown significance (VUS) in homologous recombination genes do not currently benefit from PARP inhibitor treatments. In this study, we present an algorithm that may allow classification of these variants with regard to their impact on tumor responsiveness to PARP inhibitors. If validated on a larger patient sample, our algorithm would allo…