Search results for " deficiency"
showing 10 items of 669 documents
Vitamin D supplementation, bone turnover, and inflammation in HIV-infected patients
2018
IF 1.307 (2017); International audience; ObjectiveTo assess whether vitamin D supplementation could be associated with a modification of inflammatory markers and bone turnover in HIV-1-infected patients.Patients and methodsPatients who participated in an initial survey in 2010 and who were followed in the same department were included in a new study in 2012. Between 2010 and 2012, vitamin D supplementation was offered to patients presenting with hypovitaminosis D as per appropriate guidelines. Clinical examinations were performed, and fasting blood samples were taken for inflammation and bone marker evaluations.ResultsOf the 263 patients who participated in the 2010 study, 198 were included…
Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency.
2012
Background Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) is characterized by relapsing skin swellings, abdominal pain attacks, and, less frequently, potentially life-threatening laryngeal attacks. Objective This study determined the mortality of patients with and without the diagnosis of HAE-C1-INH and analyzed fatal laryngeal attacks. Methods A cohort of 728 patients from 182 families with HAE-C1-INH was evaluated for death cases by analyzing pedigrees. Detailed information on fatal laryngeal attacks in 36 patients was obtained by questioning relatives and treating physicians. Results Of the 214 patients who had died, 70 asphyxiated during a laryngeal attack. Mortality …
Time trends (1995–2008) in dietary habits among adolescents in relation to the Norwegian school fruit scheme: the HUNT study
2019
Abstract Introduction The importance of healthy eating in adolescence is well established. The present study examined possible effects of the free Norwegian School Fruit Scheme (NSFS), changes in dietary habits between 1995 and 2008, and whether secular changes in dietary habits differed among schools who implemented the NSFS during September 2007. Method We used data from the Young-HUNT1 survey conducted from 1995 to 1997 and the Young-HUNT3 survey conducted from 2006 to 2008, which are part of the Nord-Trøndelag Health Study (HUNT), a longitudinal population health study. To evaluate the NSFS, the date Young-HUNT3 participants answered the questionnaire was used to identify affiliation to…
Loss of SMARCB1 expression in colon carcinoma
2020
International audience; SMARCB1 is a tumor suppressor gene, which is part of SWI/SNF complex involved in transcriptional regulation. Recently, loss of SMARCB1 expression has been reported in gastrointestinal carcinomas. Our purpose was to evaluate the incidence and prognostic value of SMARCB1 loss in colon carcinoma (CC). Patients with stage III CC (n = 1695), and a second cohort of 23 patients with poorly differentiated CC were analyzed. Immunohistochemistry for SMARCB1 was performed on tissue microarrays, and cases with loss of expression were controlled on whole sections. Loss of SMARCB1 was compared with the clinico-pathological and molecular characteristics, and the prognostic value wa…
Within-Day Energy Deficiency and Metabolic Perturbation in Male Endurance Athletes.
2018
Endurance athletes are at increased risk of relative energy deficiency associated with metabolic perturbation and impaired health. We aimed to estimate and compare within-day energy balance in male athletes with suppressed and normal resting metabolic rate (RMR) and explore whether within-day energy deficiency is associated with endocrine markers of energy deficiency. A total of 31 male cyclists, triathletes, and long-distance runners recruited from regional competitive sports clubs were included. The protocol comprised measurements of RMR by ventilated hood and energy intake and energy expenditure to predict RMRratio (measured RMR/predicted RMR), energy availability, 24-hr energy balance a…
A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.
2011
In hereditary angioedema with normal C1-inhibitor two different missense mutations of codon p.Thr328* in the coagulation factor 12 gene have been reported in some families. In this study a novel factor 12 gene mutation, the deletion of 72 base pairs (bp) (c.971_1018+24del72*), was identified in a family of Turkish origin, in two sisters with recurrent skin swellings and abdominal pain attacks and in their symptom-free father. This deletion caused a loss of 48 bp of exon 9 (coding amino acids 324* to 340*) in addition to 24 bp of intron 9, including the authentic donor splice site of exon 9. The large deletion of 72 bp was located in the same F12 gene region as the missense mutations p.Thr32…
Hypertension and the Fat-Soluble Vitamins A, D and E
2015
Hypertension affects populations globally and is thus a public health and socio-economic problem. Macronutrient and micronutrient deficiencies are common in the general population, and may be even more prevalent in hypertensive patients. This study aimed to determine a possible association between hypertension and intake of fat-soluble vitamins A, D and E. Participants were from the cross-sectional Hortega nutrition study conducted with a random sample of 1514 people (50.3% women, 49.7% men) and two groups: nonhypertensive controls ≥40 years old (n = 429
Antibody Response to Meningococcal Polysaccharides A and C in Patients with Complement Defects
1993
Patients with defects of terminal complement components are particularly exposed to the risk of developing neisserial infections and seem to respond poorly to meningococcal capsular polysaccharide (PS) C via natural immunization. The sole meningococcal PSC is. on the other hand, an excellent immunogen in normal people. Considering the great importance of vaccine prophylaxis for the prevention of meningococcal infections in patients with complement defects, it is crucial to study the antibody response to the sole meningococcal PS in these patients. We therefore analysed the levels of anti-PSA and PSC antibodies in the members of four families including patients with homozygous and heterozygo…
Thrombosis in inherited factor VII deficiency
2003
Thrombosis in congenital factor (F) VII deficiency was investigated through extensive phenotypic and molecular-genetic studies. Patients with a history of thrombosis among 514 entries in the FVII Deficiency Study Group database were evaluated. Thrombotic events were arterial in one case, disseminated intravascular coagulation in another and venous in seven. Gene mutations were characterized in eight patients: three were homozygous, three compound heterozygous and two heterozygous. FXa and IIa generation assays were consistent with the genetic lesions. One patient was heterozygous for the FV Leiden and one for the FIIG20210A mutation. In seven patients, surgical interventions and/or replacem…
Physical activity, sugar-sweetened beverages, whole grain bread and insomnia among adolescents and psychological distress in adulthood: prospective d…
2021
Abstract Background In this study, we examined the relationship between low levels of physical activity, high consumption of sugar-sweetened beverages and low consumption of whole grain bread and experiencing insomnia in adolescence and psychological distress in young adults. Methods This prospective study was based on information retrieved from the Trøndelag Health Study (HUNT) in Norway and included adolescents (age 13–19) participating in Young-HUNT3 (2006–2008) and in HUNT4 (2017–2019) 11 years later (age 23–31). The study sample consisted of 2,230 participants (1,287 females and 943 males). The exposure variables collected in adolescence included self-reported physical activity, consum…