Search results for "YPO"
showing 10 items of 3644 documents
Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. …
2004
We report the results of intrauterine L-thyroxine therapy, and the long-term follow-up in a fetus who presented at 32 weeks' gestation with goitrous hypothyroidism, hyperextension of the neck, and polyhydramnios. Spontaneous delivery was possible and hypothyroidism improved. Molecular analysis revealed a new compound heterozygous mutation (Y453D/C800R) in the TPO gene.
Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene
2020
Abstract Aim The aim of the present study was to identify the affected gene in a French family with maturity-onset diabetes of the young (MODY) using whole-exome sequencing (WES). Methods WES was performed in one patient with MODY, and candidate variants were confirmed in members of the immediate family by Sanger sequencing. Results In the proband, a new heterozygous missense mutation (c.340A>C) was identified in the NEUROD1 gene by WES analysis and confirmed by Sanger sequencing. Additional Sanger sequencing of the proband's sister and mother revealed the same heterozygous mutation. The proband and his sister displayed typical clinical characteristics of MODY, while their mother had the sa…
Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene
2003
Abstract We describe a Sicilian family presenting a recessive form of hypercholesterolemia harboring a mutation of the autosomal recessive hypercholesterolemia (ARH) gene. In two of the three sibs, a 26-year-old male and a 22-year-old female, a severe hypercholesterolemia was diagnosed with very high levels of plasma cholesterol (15.9 and 12.2 mmol/l, respectively); tendon xanthomatas and xanthelasms were present and in the male proband was documented a diffuse coronary atherosclerotic disease with a rapid and fatal progression. Both the parents had normal or slightly increased levels of plasma cholesterol. All causes of secondary hypercholesterolemia were ruled out as well as an involvemen…
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia
2009
Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X).Objective: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded.Results: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and recurrent epis…
BRAF(V600E) mutation influences hypoxia-inducible factor-1alpha expression levels in papillary thyroid cancer
2010
Abstract Hypoxia-inducible factor-1alpha is found frequently overexpressed in solid tumors cells, exerting an important role in angiogenesis, glucose metabolism, cell proliferation, survival and invasion. In thyroid carcinomas, hypoxia-inducible factor-1alpha expression was found increased in differentiated, poorly differentiated, medullary and anaplastic variants. Hypoxia represents the principal stimulus responsible for hypoxia-inducible factor-1alpha induction. Other nonhypoxic stimuli increase hypoxia-inducible factor-1alpha synthesis through the activation of phosphatidylinositol 3-kinase and mitogen-activated protein kinase pathways in a cell-type-specific manner. We have previously s…
Hypochondriasis, Somatoform Disorders, and Anxiety Disorders
2012
The question of whether hypochondriasis (HYP) should be considered a somatoform disorder (SFD) or classified as an anxiety disorder (ANX) has recently been raised. To empirically provide information on this issue, we compared patients with HYP (n = 65) with those with other SFDs (n = 94) and those with ANX (n = 224) regarding sociodemographic and biographical variables, general psychopathology, and naturalistic cognitive-behavioral therapy treatment effects. Compared with SFD, patients with HYP were younger and had fewer comorbid affective disorders and less impaired life domains, suggesting a closer connection between HYP and ANX. Regarding cognitive-behavioral therapy treatment effects, a…
Therapist competence and therapeutic alliance are important in the treatment of health anxiety (hypochondriasis)
2015
The role of treatment delivery factors (i.e., therapist adherence, therapist competence, and therapeutic alliance) is rarely investigated in psychotherapeutic treatment for health anxiety. This study aimed to investigate the role of the assessment perspective for the evaluation of treatment delivery factors and their relevance for treatment outcome. Therapist adherence, therapist competence, and therapeutic alliance were evaluated by independent raters, therapists, patients, and supervisors in 68 treatments. Patients with severe health anxiety (hypochondriasis) were treated with cognitive therapy or exposure therapy. Treatment outcome was assessed with a standardized interview by independen…
Diabetes mellitus prevalence and control in sleep-disordered breathing: The European Sleep Apnea Cohort (ESADA) study
2014
BACKGROUND: OSA is associated with an increased risk of cardiovascular morbidity. A driver of this is metabolic dysfunction and in particular type 2 diabetes mellitus (T2DM). Prior studies identifying a link between OSA and T2DM have excluded subjects with undiagnosed T2DM, and there is a lack of population-level data on the interaction between OSA and glycemic control among patients with diabetes. We assessed the relationship between OSA severity and T2DM prevalence and control in a large multinational population.METHODS: We performed a cross-sectional analysis of 6,616 participants in the European Sleep Apnea Cohort (ESADA) study, using multivariate regression analysis to assess T2DM prev…
Baroreflex control of heart rate during sleep in severe obstructive sleep apnoea: effects of acute CPAP
2006
Baroreflex control of heart rate during sleep (baroreflex sensitivity; BRS) has been shown to be depressed in obstructive sleep apnoea (OSA), and improved after treatment with continuous positive airway pressure (CPAP). Whether CPAP also acutely affects BRS during sleep in uncomplicated severe OSA is still debatable. Blood pressure was monitored during nocturnal polysomnography in 18 patients at baseline and during first-time CPAP application. Spontaneous BRS was analysed by the sequence method, and estimated as the mean sequence slope. CPAP did not acutely affect mean blood pressure or heart rate but decreased cardiovascular variability during sleep. Mean BRS increased slightly during CPAP…
Exercise intolerance at high altitude (5050 m): critical power and W'.
2011
Abstract The relationship between work rate (WR) and its tolerable duration (tLIM) has not been investigated at high altitude (HA). At HA (5050 m) and at sea level (SL), six subjects therefore performed symptom-limited cycle-ergometry: an incremental test (IET) and three constant-WR tests (% of IET WRmax, HA and SL respectively: WR1 70 ± 8%, 74 ± 7%; WR2 86 ± 14%, 88 ± 10%; WR3 105 ± 13%, 104 ± 9%). The power asymptote (CP) and curvature constant (W′) of the hyperbolic WR–tLIM relationship were reduced at HA compared to SL (CP: 81 ± 21 vs. 123 ± 38 W; W′: 7.2 ± 2.9 vs. 13.1 ± 4.3 kJ). HA breathing reserve (estimated maximum voluntary ventilation minus end-exercise ventilation) was also comp…