Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.

BACKGROUND: Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea), a decrease in the initial primordial follicle number, high follicle-stimulating hormone (FSH) levels and hypoestrogenism. Although the etiology of a majority of POI cases is not yet identified, several data suggest that POI has a strong genetic component. Conventional cytogenetic and molecular analyses have identified regions of the X chromosome that are associated with ovarian function, as well as POI candidate genes, such as FMR1 and DIAPH2. Here we describe a 10.5-year-old girl presenting with high FSH and luteinizing hormone (LH) levels, pathologic GH stimulation arginine and clonidine tests, short stature, pterygium, ovarian dysgenesis, hirsutism and POI. RESULTS: Cytogenetic analysis demonstrated a balanced reciprocal translocation between the q arms of chromosomes X and 1, with breakpoints falling in Xq21 and 1q41 bands. Molecular studies did not unravel any chromosome microdeletion/microduplication, and no XIST-mediated inactivation was found on the derivative chromosome 1. Interestingly, through immunofluorescence assays, we found that part of the Xq21q22 trait, translocated to chromosome 1q41, was late replicating and therefore possibly inactivated in 30 % metaphases both in lymphocytes and skin fibroblasts, in addition to a skewed 100 % inactivation of the normal X chromosome. These findings suggest that a dysregulation of gene expression might occur in this region. Two genes mapping to the Xq translocated region, namely DIAPH2 and FMR1, were found overexpressed if compared with controls. CONCLUSIONS: We report a case in which gonadal dysgenesis and POI are associated with over-expression of DIAPH2 gene and of FMR1 gene in wild type form. We hypothesize that this over-expression is possibly due to a phenomenon known as "chromosomal position effect", which accounts for gene expression variations depending on their localization within the nucleus. For the same effect a double mosaic inactivation of genes mapping to the Xq21-q22 region, demonstrated by immunofluorescence assays, may be the cause of a functional Xq partial monosomy leading to most Turner traits of the proband's phenotype.

Caloric restriction induces energy-sparing alterations in skeletal muscle contraction, fiber composition and local thyroid hormone metabolism that persist during catch-up fat upon refeeding.

Weight regain after caloric restriction results in accelerated fat storage in adipose tissue. This catch-up fat phenomenon is postulated to result partly from suppressed skeletal muscle thermogenesis, but the underlying mechanisms are elusive. We investigated whether the reduced rate of skeletal muscle contraction-relaxation cycle that occurs after caloric restriction persists during weight recovery and could contribute to catch-up fat. Using a rat model of semistarvation-refeeding, in which fat recovery is driven by suppressed thermogenesis, we show that contraction and relaxation of leg muscles are slower after both semistarvation and refeeding. These effects are associated with (i) higher expression of muscle deiodinase type 3 (DIO3), which inactivates tri-iodothyronine (T3), and lower expression of T3-activating enzyme, deiodinase type 2 (DIO2), (ii) slower net formation of T3 from its T4 precursor in muscles, and (iii) accumulation of slow fibers at the expense of fast fibers. These semistarvation-induced changes persisted during recovery and correlated with impaired expression of transcription factors involved in slow-twitch muscle development. We conclude that diminished muscle thermogenesis following caloric restriction results from reduced muscle T3 levels, alteration in muscle-specific transcription factors, and fast-to-slow fiber shift causing slower contractility. These energy-sparing effects persist during weight recovery and contribute to catch-up fat.

Incidence and consequence of major bleeding in primary percutaneous intervention for ST-elevation myocardial infarction in the era of radial access: an analysis of the international randomized Acute myocardial infarction Treated with primary angioplasty and intravenous enoxaparin Or unfractionated heparin to Lower ischemic and bleeding events at short- and Long-term follow-up trial.

AIMS: The aims of the study are to compare the outcome with and without major bleeding and to identify the independent correlates of major bleeding complications and mortality in patients described in the ATOLL study. METHODS: The ATOLL study included 910 patients randomly assigned to either 0.5 mg/kg intravenous enoxaparin or unfractionated heparin before primary percutaneous coronary intervention. Incidence of major bleeding and ischemic end points was assessed at 1 month, and mortality, at 1 and 6 months. Patients with and without major bleeding complication were compared. A multivariate model of bleeding complications at 1 month and mortality at 6 months was realized. Intention-to-treat and per-protocol analyses were performed. RESULTS: The most frequent bleeding site appears to be the gastrointestinal tract. Age >75 years, cardiac arrest, and the use of insulin or >1 heparin emerged as independent correlates of major bleeding at 1 month. Patients presenting with major bleeding had significantly higher rates of adverse ischemic complications. Mortality at 6 months was higher in bleeders. Major bleeding was found to be one of the independent correlates of 6-month mortality. The addition or mixing of several anticoagulant drugs was an independent factor of major bleeding despite the predominant use of radial access. CONCLUSIONS: This study shows that major bleeding is independently associated with poor outcome, increasing ischemic events, and mortality in primary percutaneous coronary intervention performed mostly with radial access.

Drug-eluting stents compared to bare-metal stents improve short-term survival in patients with acute myocardial infarction undergoing primary percutaneous coronary intervention: a nationwide prospective analysis of the AMIS Plus registry.

BACKGROUND: Recently, it has been suggested that the type of stent used in primary percutaneous coronary interventions (pPCI) might impact upon the outcomes of patients with acute myocardial infarction (AMI). Indeed, drug-eluting stents (DES) reduce neointimal hyperplasia compared to bare-metal stents (BMS). Moreover, the later generation DES, due to its biocompatible polymer coatings and stent design, allows for greater deliverability, improved endothelial healing and therefore less restenosis and thrombus generation. However, data on the safety and performance of DES in large cohorts of AMI is still limited. AIM: To compare the early outcome of DES vs. BMS in AMI patients. METHODS: This was a prospective, multicentre analysis containing patients from 64 hospitals in Switzerland with AMI undergoing pPCI between 2005 and 2013. The primary endpoint was in-hospital all-cause death, whereas the secondary endpoint included a composite measure of major adverse cardiac and cerebrovascular events (MACCE) of death, reinfarction, and cerebrovascular event. RESULTS: Of 20,464 patients with a primary diagnosis of AMI and enrolled to the AMIS Plus registry, 15,026 were referred for pPCI and 13,442 received stent implantation. 10,094 patients were implanted with DES and 2,260 with BMS. The overall in-hospital mortality was significantly lower in patients with DES compared to those with BMS implantation (2.6% vs. 7.1%,p < 0.001). The overall in-hospital MACCE after DES was similarly lower compared to BMS (3.5% vs. 7.6%, p < 0.001). After adjusting for all confounding covariables, DES remained an independent predictor for lower in-hospital mortality (OR 0.51,95% CI 0.40-0.67, p < 0.001). Since groups differed as regards to baseline characteristics and pharmacological treatment, we performed a propensity score matching (PSM) to limit potential biases. Even after the PSM, DES implantation remained independently associated with a reduced risk of in-hospital mortality (adjusted OR 0.54, 95% CI 0.39-0.76, p < 0.001). CONCLUSIONS: In unselected patients from a nationwide, real-world cohort, we found DES, compared to BMS, was associated with lower in-hospital mortality and MACCE. The identification of optimal treatment strategies of patients with AMI needs further randomised evaluation; however, our findings suggest a potential benefit with DES.

Short-term HIIT and Fatmax training increase aerobic and metabolic fitness in men with class II and III obesity.

OBJECTIVE: To compare the effects of two different 2-week-long training modalities [continuous at the intensity eliciting the maximal fat oxidation (Fatmax ) versus high-intensity interval training (HIIT)] in men with class II and III obesity. METHODS: Nineteen men with obesity (BMI ≥ 35 kg(.) m(-2) ) were assigned to Fatmax group (GFatmax ) or to HIIT group (GHIIT ). Both groups performed eight cycling sessions matched for mechanical work. Aerobic fitness and fat oxidation rates (FORs) during exercise were assessed prior and following the training. Blood samples were drawn to determine hormones and plasma metabolites levels. Insulin resistance was assessed by the homeostasis model assessment of insulin resistance (HOMA2-IR). RESULTS: Aerobic fitness and FORs during exercise were significantly increased in both groups after training (P ≤ 0.001). HOMA2-IR was significantly reduced only for GFatmax (P ≤ 0.001). Resting non-esterified fatty acids (NEFA) and insulin decreased significantly only in GFatmax (P ≤ 0.002). CONCLUSIONS: Two weeks of HIIT and Fatmax training are effective for the improvement of aerobic fitness and FORs during exercise in these classes of obesity. The decreased levels of resting NEFA only in GFatmax may be involved in the decreased insulin resistance only in this group.

On Short Exponential Sums Involving Fourier Coefficients of Holomorphic Cusp Forms

By an exponential sum of the Fourier coefficients of a holomorphic cusp form we mean the sum which is formed by first taking the Fourier series of the said form,then cutting the beginning and the tail away and considering the remaining sum on the real axis. For simplicity’s sake, typically the coefficients are normalized. However, this isn’t so important as the normalization can be done and removed simply by using partial summation. We improve the approximate functional equation for the exponential sums of the Fourier coefficients of the holomorphic cusp forms by giving an explicit upper bound for the error term appearing in the equation. The approximate functional equation is originally due to Jutila [9] and a crucial tool for transforming sums into shorter sums. This transformation changes the point of the real axis on which the sum is to be considered. We also improve known upper bounds for the size estimates of the exponential sums. For very short sums we do not obtain any better estimates than the very easy estimate obtained by multiplying the upper bound estimate for a Fourier coefficient (they are bounded by the divisor function as Deligne [2] showed) by the number of coefficients. This estimate is extremely rough as no possible cancellation is taken into account. However, with small sums, it is unclear whether there happens any remarkable amounts of cancellation.

Lajittumisen dynamiikka epäpuhtauksien ja kuitujen painelajittelussa

Viimevuosina kuvantamistekniikat ovat kehittyneet huomattavasti. Näiden uusien tekniikoiden avulla voidaan tarkastella erilaisia prosesseja aiempaa tarkemmin. Painelajittelun teoriat perustuvat pääasiassa makrotason mittauksien pohjalta tehtyihin matemaattisiin malleihin, ja itse lajittumistapahtumaa ei ole aiemmin päästy kovinkaan tarkasti havainnoimaan. Tämän työn tavoitteena olikin selvittää lajittumistapahtumaa uuden kuvantamistekniikan avulla. Työn kirjallisuusosassa esiteltiin lyhyesti painelajitin ja sen toiminta. Myös painelajittelun perusteoriat käytiin lyhyesti läpi. Teoriaosan pääpaino oli lajittumistapahtumassa ja siihen vaikuttavissa tekijöissä. Lisäksi teoriaosassa esiteltiin teollisen painelajittelun nykytilannetta, työtä varten tehdyn esiselvityksen pohjalta. Lajitinsimulaattorikoeajoissa selvitettiin kuitujen ja roskapartikkelien käyttäyty-mistä painelajittimessa kuvantamisen avulla. Kuvauksissa keskityttiin rakosihdin raon tapahtumiin, sekä sihtipinnan tapahtumiin. Kuvamateriaalista laskettiin kuitujen ja roskien liikenopeuksia lankasihtiprofiilin raossa, sekä sihdin pinnalla. Lisäksi tutkittiin kehänopeuden, tuotannon ja sakeuden vaikutusta liike-nopeuksiin. Kuvamateriaalista pyrittiin myös havainnoimaan mahdollista kuitujen takaisinvirtausta. Kuvantamisella saatiin uutta tietoa kuitujen ja roskapartikkelien liikkeestä painelajittimessa. Tuloksista kävi muun muassa ilmi, että roottorin elementin pienimmän välyksen kohdalla akseptoituu huomattava määrä massaa. Tämä selittyy sillä, että pienimmän välyksen kohta tuottaa huomattavan positiivisen painepulssin. Kuitujen ja roskapartikkelien nopeudet raossa noudattelivat muutenkin hyvin selkeästi elementin tuottamaa painepulssia. Lisäksi kuvamateriaalista havaittiin, että sihdin raon suulle kertyy profiilin korkuinen kuituflokki. Koko sihdin peittävää kuitumattoa ei havaittu.

Fiber flows in global paper and pulp industry. A panel data approach.

The purpose of this thesis is to study factors that explain the bilateral fiber trade flows. This is done by analyzing bilateral trade flows during 1990-2006. It will be studied also, whether there are differences between fiber types. This thesis uses a gravity model approach to study the trade flows. Gravity model is mostly used to study the aggregate data between trading countries. In this thesis the gravity model is applied to single fibers. This model is then applied to panel data set. Results from the regression show clearly that there are benefits in studying different fibers in separate. The effects differ considerably from each other. Furthermore, this thesis speaks for the existence of Linder’s effect in certain fiber types.

Fabrication technology and applications of fiber Bragg gratings

In this thesis theoretical and technological aspects of fiber Bragg gratings (FBG) are considered. The fabrication of uniform and chirped fiber Bragg gratings using phase mask technique has been exploited throughout this study. Different requires of FBG inscription were considered and implemented experimentally to find economical and effective procedure. The hydrogen loading was used as a method for enhancement the photosensitivity of the fiber. The minimum loading time for uniform and chirped fiber Bragg gratings was determined as 3 days and 7 days at T = 50°C and hydrogen pressure 140 bar, respectively. The post-inscription annealing was considered to avoid excess losses induced by the hydrogen. The wavelength evolution during annealing was measured. The strain and temperature sensor application of FBG was considered. The wavelength shifts caused by tension and temperature were studied for both uniform and chirp fiber Bragg gratings.

A short screener is valid for assessing mediterranean diet adherence among older spanish men and women

Ensuring the accuracy of dietary assessment instruments is paramount for interpreting diet-disease relationships. The present study assessed the relative and construct validity of the 14-point Mediterranean Diet Adherence Screener (MEDAS) used in the Prevencio´n con Dieta Mediterra´nea (PREDIMED) study, a primary prevention nutrition-intervention trial. A validated FFQ and the MEDAS were administered to 7146 participants of the PREDIMED study. The MEDASderived PREDIMED score correlated significantly with the corresponding FFQ PREDIMED score (r = 0.52; intraclass correlation coefficient = 0.51) and in the anticipated directions with the dietary intakes reported on the FFQ. Using Bland Altman"s analysis, the average MEDAS Mediterranean diet score estimate was 105% of the FFQ PREDIMED score estimate. Limits of agreement ranged between 57 and 153%. Multiple linear regression analyses revealed that a higher PREDIMED score related directly (P , 0.001) to HDL-cholesterol (HDL-C) and inversely (P , 0.038) to BMI, waist circumference, TG, the TG:HDL-C ratio, fasting glucose, and the cholesterol:HDL-C ratio. The 10-y estimated coronary artery disease risk decreased as the PREDIMED score increased (P , 0.001). The MEDAS is a valid instrument for rapid estimation of adherence to the Mediterranean diet and may be useful in clinical practice.

A short screener is valid for assessing mediterranean diet adherence among older spanish men and women

Ensuring the accuracy of dietary assessment instruments is paramount for interpreting diet-disease relationships. The present study assessed the relative and construct validity of the 14-point Mediterranean Diet Adherence Screener (MEDAS) used in the Prevencio´n con Dieta Mediterra´nea (PREDIMED) study, a primary prevention nutrition-intervention trial. A validated FFQ and the MEDAS were administered to 7146 participants of the PREDIMED study. The MEDASderived PREDIMED score correlated significantly with the corresponding FFQ PREDIMED score (r = 0.52; intraclass correlation coefficient = 0.51) and in the anticipated directions with the dietary intakes reported on the FFQ. Using Bland Altman"s analysis, the average MEDAS Mediterranean diet score estimate was 105% of the FFQ PREDIMED score estimate. Limits of agreement ranged between 57 and 153%. Multiple linear regression analyses revealed that a higher PREDIMED score related directly (P , 0.001) to HDL-cholesterol (HDL-C) and inversely (P , 0.038) to BMI, waist circumference, TG, the TG:HDL-C ratio, fasting glucose, and the cholesterol:HDL-C ratio. The 10-y estimated coronary artery disease risk decreased as the PREDIMED score increased (P , 0.001). The MEDAS is a valid instrument for rapid estimation of adherence to the Mediterranean diet and may be useful in clinical practice.

Fiber-reinforced Composite as Oral Implant Material. Experimental studies of glass fiber and bioactive glass in vitro and in vivo

Fiber-reinforced composite as oral implant material: Experimental studies of glass fiber and bioactive glass in vitro and in vivo Department of Prosthetic Dentistry and Biomaterials Science, Institute of Dentistry, University of Turku, Turku, Finland 2008. Biocompatibility and mechanical properties are important variables that need to be determined when new materials are considered for medical implants. Special emphasis was placed on these characteristics in the present work, which aimed to investigate the potential of fiber-reinforced composite (FRC) material as an oral implant. Furthermore, the purpose of this study was to explore the effect of bioactive glass (BAG) on osseointegration of FRC implants. The biocompatibility and mechanical properties of FRC implants were studied both in vitro and in vivo. The mechanical properties of the bulk FRC implant were tested with a cantilever bending test, torsional test and push-out test. The biocompatibility was first evaluated with osteoblast cells cultured on FRC substrates. Bone bonding was determined with the mechanical push-out test and histological as well as histomorplanimetric evaluation. Implant surface was characterized with SEM and EDS analysis. The results of these studies showed that FRC implants can withstand the static load values comparably to titanium. Threaded FRC implants had significantly higher push-out strength than the threaded titanium implants. Cell culture study revealed no cytotoxic effect of FRC materials on the osteoblast-like-cells. Addition of BAG particles enhanced cell proliferation and mineralization of the FRC substrates The in vivo study showed that FRC implants can withstand static loading until failure without fracture. The results also suggest that the FRC implant is biocompatible in bone. The biological behavior of FRC was comparable to that of titanium after 4 and 12 weeks of implantation. Furthermore, addition of BAG to FRC implant increases peri-implant osteogenesis and bone maturation.