Search results for "Whole"
showing 10 items of 581 documents
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient
2020
Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pentatricopeptide repeat-containing (LRPPRC). It is an autosomal recessive neurogenetic OXPHOS disorder, phenotypically distinct from other types of Leigh syndrome, with a carrier frequency up to 1:23 and an incidence of 1:2063 in the Saguenay-Lac-St Jean region of Quebec. Recently, LSFC has also been reported outside the French-Canadian population. Patient presentation We report a male Italian (Sic…
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on i…
2021
Abstract BACKGROUND Our genetic code is now readable, writable and hackable. The recent escalation of genome-wide sequencing (GS) applications in population diagnostics will not only enable the assessment of risks of transmitting well-defined monogenic disorders at preconceptional stages (i.e. carrier screening), but also facilitate identification of multifactorial genetic predispositions to sub-lethal pathologies, including those affecting reproductive fitness. Through GS, the acquisition and curation of reproductive-related findings will warrant the expansion of genetic assessment to new areas of genomic prediction of reproductive phenotypes, pharmacogenomics and molecular embryology, fur…
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population
2003
We have systematically screened the genome for evidence of linkage disequilibrium (LD) with multiple sclerosis (MS) by typing 6000 microsatellite markers in case-control and family based (AFBAC) cohorts from the Italian population. DNA pooling was used to reduce the genotyping effort involved. Four DNA pools were considered: cases (224 Italian MS patients), controls (231 healthy Italians), index (185 index cases from trio families) and parents (the 370 parents of the patient included in the Index pool), respectively. After refining analysis of the most promising 14 markers to emerge from this screening process, only marker D2S367 retained evidence for association. © 2003 Elsevier B.V. All r…
Whole-Blood Mitochondrial DNA Copies Are Associated With the Prognosis of Acute Respiratory Distress Syndrome After Sepsis
2021
Acute respiratory distress syndrome (ARDS) is an inflammatory process of the lungs that develops primarily in response to pulmonary or systemic sepsis, resulting in a disproportionate death toll in intensive care units (ICUs). Given its role as a critical activator of the inflammatory and innate immune responses, previous studies have reported that an increase of circulating cell-free mitochondrial DNA (mtDNA) is a biomarker for fatal outcome in the ICU. Here we analyzed the association of whole-blood mtDNA (wb-mtDNA) copies with 28-day survival from sepsis and sepsis-associated ARDS. We analyzed mtDNA data from 687 peripheral whole-blood samples within 24 h of sepsis diagnosis from unrelat…
Intravenous bisphosphonate-related osteonecrosis of the jaws: Influence of coadjuvant antineoplastic treatment and study of buccodental condition
2012
Objectives: To determine whether coadjuvant antineoplastic treatment can influence the number and size of bone exposures among patients with intravenous bisphosphonate-related osteonecrosis of the jaws (iBRONJ), and to analyze the buccodental condition of these patients. Material and methods: The study sample comprised 67 patients with iBRONJ, 53 patients without iBRONJ receiving treatment with intravenous bisphosphonates, and 36 healthy subjects. In all three groups, measurements were made of the CAO index and of resting whole saliva and stimulated whole saliva. In the patients with iBRONJ, the size (cm) and number of bone exposures were recorded. The data obtained were subjected to analys…
The 15-Country Collaborative Study of Cancer Risk among Radiation Workers in the Nuclear Industry: Estimates of Radiation-Related Cancer Risks
2007
International audience; A 15-Country collaborative cohort study was conducted to provide direct estimates of cancer risk following protracted low doses of ionizing radiation. Analyses included 407,391 nuclear industry workers monitored individually for external radiation and 5.2 million person-years of follow-up. A significant association was seen between radiation dose and all-cause mortality [excess relative risk (ERR) 0.42 per Sv, 90% CI 0.07, 0.79; 18,993 deaths]. This was mainly attributable to a dose-related increase in all cancer mortality (ERR/Sv 0.97, 90% CI 0.28, 1.77; 5233 deaths). Among 31 specific types of malignancies studied, a significant association was found for lung cance…
Associations of fat mass and fat-free mass with physical fitness in 4-year-old children: Results from the MINISTOP trial
2016
Physical fitness is a powerful marker of health in youth. Studies in adolescents and adults suggest that higher fat mass is related to worse physical fitness. However, there is limited knowledge whether fat mass and fat-free mass are associated with physical fitness already in preschoolers. Baseline data from the MINISTOP (Mobile-based INtervention Intended to STop Obesity in Preschoolers) trial was utilized for this cross-sectional analysis. Body composition was assessed using air-displacement plethysmography. Fat mass index [fat mass (kg)/height(2) (m)] and fat-free mass index [fat-free mass (kg)/height(2) (m)] were used to provide height-adjusted measures of body composition. Physical fi…
Weight Gain Composition in Preterm Infants with Dual Energy X-Ray Absorptiometry
2001
Whole body composition was investigated using dual energy x-ray absorptiometry in 54 healthy preterm infants, birth weight < 1750 g, who were fed fortified human milk (n = 20) and preterm formula (n = 34) when full enteral feeding was attained and then again 3 wk later at around the time of discharge. Weight gain composition was calculated from the difference between the earlier and later measurement. The minimal detectable changes in whole body composition over time according to the variance of the population (within groups of 20 infants) and the minimal detectable changes according to the dietary intervention (between two groups of 20 infants) were determined at 5% significance and 80% po…
Neonatal screening for congenital hypothyroidism in an Italian Centre: a 5-years real-life retrospective study
2021
Abstract Introduction Congenital hypothyroidism is an endocrine disease with a significant incidence in the general population (1:2000–1:3000 newborns in Italy) and a different geographical distribution, partially explained by endemic iodine deficiency, genetic traits and autoimmune thyroid diseases. Objectives Aims of this study are: to evaluate the incidence of positive neonatal blood spot screening for CH in western Sicily, identified by the screening centre of the Children Hospital “G. Di Cristina”, ARNAS, Palermo; to evaluate the impact of a lower TSH cutoff in the neonatal blood spot screening for CH. Materials and methods The TSH threshold of the neonatal screening was established as…
Measurement of phase I volume breath by breath in spontaneously breathing guinea pigs.
1990
A new method to determine phase I volume in tracheotomized spontaneously breathing guinea pigs is presented. Measurements were performed in three animals weighing 567-896 g. In simultaneous tracings of tidal volume (VT) and expiratory profiles of endogenous gases (PO2 or PCO2), the phase I volume of each breath was determined graphically as the volume expired up to the end of phase I of the expirogram. The mean phase I volume of different animals ranged from 0.29 to 0.43 ml with an arithmetic dispersion between 0.014 and 0.021 ml. Spontaneous sighs sometimes with doubling of the VT caused a significant rise of phase I volume up to 50% of the normal values. The linear regression curve was c…