Miracle-dz/UniFAR-FTUs huggingface dataset:
Different genes, different diabetes: lessons from maturity-onset diabetes of the young

Maturity-onset diabetes of the young (MODY) is a genetic subgroup of diabetes characterised by an autosomal dominant inheritance and early onset, non-insulin dependent diabetes. This results from a monogenic defect causing beta-cell dysfunction. The defining of five genes in which mutations cause MODY has allowed us to understand the clinical heterogeneity seen in this condition and can guide clinical management. Mutations in the glucokinase gene lead to stable hyperglycaemia, complications are unusual and treatment is rarely needed. Glucokinase patients are often detected during screening in pregnancy. While maternal mutations increase birth weight by increasing maternal glycaemia, fetal mutations reduce birth weight by reducing fetal insulin secretion. Patients with mutation in genes encoding the transcription factors, hepatocyte nuclear factor (HNF)-1 f, HNF-4 f, HNF-1 g and insulin promoter factor 1 (IPF-1) have a common progressive beta-cell failure resulting in increasing hyperglycaemia and treatment requirements. These patients are at risk of developing microvascular complications. They show a pharmacogenetic effect with a specific sensitivity to sulphonylureas. Patients with transcription factor mutations have a range of discrete extrapancreatic phenotypes including a low renal threshold for glucose with HNF-1 f mutations, altered lipids and lipoproteins with HNF-4 f mutations and a variety of cystic renal diseases and uterine and genital developmental disorders with HNF-1 g mutations. Molecular genetic testing is now available in routine clinical practice. This allows confirmation of a diagnosis of MODY and defines the subgroup. Differences in prognosis and treatment strongly support the increased use of molecular genetic testing in diabetes.
Using machine learning to replicate chaotic attractors and calculate Lyapunov exponents from data.

We use recent advances in the machine learning area known as "reservoir computing" to formulate a method for model-free estimation from data of the Lyapunov exponents of a chaotic process. The technique uses a limited time series of measurements as input to a high-dimensional dynamical system called a "reservoir. " After the reservoir's response to the data is recorded, linear regression is used to learn a large set of parameters, called the "output weights. " The learned output weights are then used to form a modified autonomous reservoir designed to be capable of producing an arbitrarily long time series whose ergodic properties approximate those of the input signal. When successful, we say that the autonomous reservoir reproduces the attractor's "climate. " Since the reservoir equations and output weights are known, we can compute the derivatives needed to determine the Lyapunov exponents of the autonomous reservoir, which we then use as estimates of the Lyapunov exponents for the original input generating system. We illustrate the effectiveness of our technique with two examples, the Lorenz system and the Kuramoto-Sivashinsky (KS) equation. In the case of the KS equation, we note that the high dimensional nature of the system and the large number of Lyapunov exponents yield a challenging test of our method, which we find the method successfully passes.
Dynamic terminal characteristics of a photovoltaic generator

Photovoltaic (PV) cells have non-linear electrical characteristics with only one operating point at which the maximum available power can be extracted. This is called the maximum power point (MPP). In order to maximally utilize the energy of solar radiation by using PV generators, they must be forced to operate at their MPP. This is done by using interfacing devices, which are capable of changing the operating point of PV generators and feeding the maximum electrical power to the loads. Although the static electrical characteristics are important when designing a PV generator, the operation of the interfacing devices is also highly affected by the dynamic characteristics of the PV generator. This paper investigates the dynamic properties of PV generators especially from the point of view of the interfacing devices used between the PV generators and the loads. These loads can be e.g. an electrical grid in case of grid-connected generators or batteries in stand-alone applications.
Wettability and surface roughness characteristics of medium density fiberboard panels from rhododendron (Rhododendron ponticum) biomass

Wettability and surface roughness properties of medium densityberboard (MDF) panels made from Rhododendron biomass were examined in this study. Rhododendron dominates the understory layer of the forests throughout the Black Sea Region in Turkey with substantial biomass potential. � is study was conducted to evaluate suitability of Rhododendronber for MDF production. For the experiments, rhododendron and commercially-manufactured-chip (Pinus sylvestris L. and Quercus robur L.) with 11% moisture content were used. � e mixing ratios of rhododendron with commercially-manufactured-chip were 100:0, 75:25, 50:50, 25:75 and 0:100 %, respectively. Commercial urea formaldehyde (UF) adhesive was used as a binder. A stylus method was employed to evaluate the surface characteristics of the samples. Roughness measurements by the stylus method were taken perpendicularly to theber. � ere was a signicant dierence (p=0.05) between surface roughness parameters (R a , R z , R q , and R y ). � e results obtained in this study revealed that all the panels have met the general purpose-use requirements of European Norm (EN). It was found that panels made with a 25/75 ratio of rhododendron to commercially-manufactured-chip had a signicantly lower contact angle (88.14 o ) than panels made with a 100/0 ratio (117.91 o ). Surface roughness measurements are based on four roughness parameters, average roughness (R a ), mean peak-to-valley height (R z ), root mean square roughness (R q ), and maximum peak-to-valley height (R y ) were considered to evaluate the surface characteristics of the panels and supported the above � ndings as the panels made with a 25/75 ratio had a slightly rougher surface with average values of 2.929 �m (R a ). From the tests performed, we conclude that increasing the rhododendron mixing portion increased surface roughness and decreased wettability. Based on these results, rhododendron biomass could be an alternative raw material for MDF manufacturing.
Understanding the durability of a fire department wellness program.

OBJECTIVES To understand the influences associated with durability and diffusion of benefits of a fire service wellness program. METHODS Qualitative assessment of group interviews. RESULTS Five years following a controlled worksite wellness trial, behavioral improvements were durable and had diffused to control participants. These findings were associated with firefighters' team orientation, enacted healthy norms and competitiveness regarding the results of annual health assessments. The original intervention trial appeared to initiate individual change that coalesced into group effects. Secondary influences included increasing public awareness about health, newly hired younger firefighters, and a modicum of administrative support. Culture shift was achieved at the workplace. CONCLUSIONS Although the fire service is a unique occupation, these findings suggest general strategies to achieve durable positive health change in other occupational settings.
Production of nitric oxide by rat type II pneumocytes: increased expression of inducible nitric oxide synthase following inhalation of a pulmonary irritant.

Nitric oxide is a highly reactive molecule that has been implicated in host defense and tissue injury. In the present studies, we determined whether rat type II alveolar epithelial cells have the capacity to produce this mediator. We found that type II cells synthesize significant quantities of nitric oxide after treatment with the inflammatory cytokines, interferon-gamma (IFN-gamma) and/or interleukin-1 beta (IL-1 beta), or with the combination of IFN-gamma and tumor necrosis factor-alpha. In contrast to rat alveolar macrophages, type II cells were unresponsive to lipopolysaccharide. Production of nitric oxide by type II cells in response to IFN-gamma was dose dependent, reaching a maximum at 100 U/ml, and blocked by NG-monomethyl-L-arginine (L-NMA), a nitric oxide synthase inhibitor. Northern blot analysis demonstrated that nitric oxide production by type II cells was due to expression of mRNA for an inducible form of nitric oxide synthase (iNOS). Following brief exposure of rats to irritant-inducing doses of ozone (2 ppm, 3 h), type II cells were found to produce significantly more nitric oxide than were cells from control animals. This was due to increased expression of iNOS mRNA. Cells from ozone-treated rats were also sensitized to produce more nitric oxide in response to IFN-gamma and IL-1 beta. This was associated with a marked increase in expression of iNOS mRNA and enzyme protein in the cells. We also found that ozone inhalation caused enhanced production of hydrogen peroxide, as well as spontaneous and IFN-gamma-induced cytostasis of type II cells toward P815 mouse mastocytoma cells. (ABSTRACT TRUNCATED AT 250 WORDS)
Myosin 5 b loss of function leads to defects in polarized signaling : implication for microvillus inclusion disease pathogenesis and treatment

Dmitri Kravtsov, Anastasia Mashukova, Radia Forteza, Maria M. Rodriguez, Nadia A. Ameen,* and Pedro J. Salas* Department of Pediatrics, Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut; Department of Physiology, Nova Southeastern University, Ft. Lauderdale, Florida; Department of Cell Biology, University of Miami Miller School of Medicine, Miami, Florida; and Department of Pathology, University of Miami Miller School of Medicine, Miami, Florida
Interobserver Reproducibility in the Diagnosis of Prostatic Intraepithelial Neoplasia

To assess interobserver reproducibility in the categorization of prostatic intraepithelial neoplasia (PIN) seven pathologists reviewed 25 lesions. Rather than classic or consecutive examples of PIN, cases were selected to represent the full spectrum of diagnostic issues in this field. Lesions were classified into one of six categories: (a) benign prostate tissue, (b) PIN1, (c) PIN2, (d) PIN3, (e) PIN3 cannot rule out associated cancer, and (f) PIN3 plus cancer. Following evaluation of the slides, data were also analyzed by combining several of the groups into three categories: (a) benign\PIN1; (b) PIN2\PIN3\PIN cannot rule out cancer; and (c) PIN plus cancer. The level of agreement was fair (Kappa = 0.33) for the six categories and substantial (Kappa = 0.61) for the three groups. In no case was there a uniform diagnosis of PIN1; in all cases at least some pathologists considered the biopsies to be normal. This finding provides support for not commenting on PIN1 in biopsy material. In general, there was good distinction between low-grade PIN (PIN1) and high-grade PIN (PIN2–3). Among the seven cases for which there was a consensus that the lesion represented high-grade PIN, there was no case in which there was uniform agreement as to whether the lesion represented PIN2 or PIN3. This finding supports combining PIN2 and PIN3 into high-grade PIN. Cases classified as low-grade PIN by some and as high-grade PIN by others were those with pleomorphism but without prominent nucleoli. Difficulties in distinguishing “high grade PIN” from “high grade PIN cannot rule out cancer” were those with cribriform glands, glands with necrosis, and where high-grade PIN was associated with only a few adjacent small atypical glands. These same histologies caused the participating pathologists difficulty in distinguishing “high grade PIN cannot rule cancer” from “high grade PIN plus cancer. ”
Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease resulting from mutations in the gene ABCD1 and alterations in peroxisomal beta-oxidation of long chain fatty acids. As it has been frequently discussed, it manifests a wide range of phenotypes in male, with progressive myelopathy being the most common. Even though the gene is localized to the X-chromosome and a region subject to Xinactivation, female carriers still are affected significantly by this condition. It has been stated that between 20 and 50% of women who are carriers may manifest some symptoms and recent evidence has suggested the differences in disease manifestations and relative rates of progression between men and women. However there have been only limited studies specifically addressing this and to date there has been no comprehensive review discussing the different phenotypes in female carriers, as well as the differences in disease onset, progression, disability, nervous system pathology and neuroimaging patterns compared to affected males. This is of key importance as similarities and differences between genders
[Pre-emptive analgesia from intravenous administration of opioid: no effect with pentazocine].

The influence of timing of administration of preoperative pentazocine on pain and analgesic requirements after surgery was studied in 46 patients undergoing total abdominal hysterectomy. Twenty-three patients received thiamylal 5 mg.kg-1 on induction of anesthesia, followed by pentazocine 30 mg or 60 mg before surgical incision (group A). Twenty-three control patients received pentazocine 30 mg or 60 mg, 5 min after abdominal incision (group B). The visual analogue scales for pain 24 h after operation were 6.0 cm at 30 mg dose in group A or 5.3 cm at 60 mg dose in group A and 5.7 cm at 30 mg dose in group B or 4.7 cm at 60 mg dose in group B. There were no differences in the visual analogues scales. Pentazocine consumption in the first 24 h after surgery was 67.5 mg at 30 mg dose in group A or 52.5 mg at 60 mg dose in group A and 70.9 mg at 30 mg dose in group B or 51.8 mg at 60 mg dose in group B. We conclude that postoperative pentazocine consumption and pain scores are no different when pentazocine is given before or after skin incision for abdominal hysterectomy and that there is no clinically useful pre-emptive analgesic effect with these doses of pentazocine.
Matrix metalloproteinase‐2 (MMP‐2) immunoreactive protein—a new prognostic marker in uveal melanoma?

Uveal melanoma is the most common primary intraocular tumour. Once haematogenous metastasis has occurred, there is no cure for the disease and there is an obvious need for new biological prognostic markers to estimate the risk of metastasis. In this study, the expression of matrix metalloproteinase‐2 (MMP‐2) was characterized immunohistochemically in 29 human uveal melanomas. Enzyme‐linked immunoassays and gelatin zymographies were assessed in order to quantify the expression of gelatinases A and B, as well as the tissue inhibitor of metalloproteinases (TIMPs), in the vitreous body. A total of 49 per cent of the uveal melanomas displayed a positive immunoreaction for MMP‐2 in melanoma cells, the epithelioid cells showing the most frequent staining. There was no correlation between the positivity of MMP‐2 staining and the size of the primary tumour, gender or age. The expression of MMP‐2 was associated with a dismal prognosis: the 5‐year overall survival rate for MMP‐2‐positive cases was significantly inferior to that of the MMP‐2 negative cases, 49 per cent vs. 86 per cent, respectively (p=0·02). A patient group at high risk of metastatic disease was identified; only 38 per cent of patients with a MMP‐2‐positive non‐spindle cell uveal melanoma survived for 5 years. The analyses of MMPs or TIMPs in the vitreous body had no prognostic value. Positive immunostaining for MMP‐2 was observed in the retinal pigment epithelium, corneal epithelium, and fibroblasts in the ciliary body and choroid. It is concluded that immunohistochemical analysis of MMP‐2 may help to predict a risk of metastasis in uveal melanoma. Copyright © 1999 John Wiley & Sons, Ltd.
Small-slope approximation for electromagnetic wave scattering at the dielectric rough sea surface

In this paper, the bistatic coefficient of the first-order and the second-order small slope approximation is derived for the dielectric rough surface. Based on the spectral model of Elfouhaily, the scattering coefficient of rough surface is calculated, and the theoretical results are compared between the polarization VV and the polarization HH, the dependence of the backscattering coefficient on the wind speed and the dielectric constant. The results showed that theoretical results are consistent with experimental data. In the case of the backscattering, the result calculated by the small slope approximation is accuracy and the second-order makes the results more accuracy.
Safety, Feasibility, and Outcomes of Induced Hypothermia Therapy Following In-Hospital Cardiac Arrest—Evaluation of a Large Prospective Registry*

Objectives:Despite a lack of randomized trials, practice guidelines recommend that mild induced hypothermia be considered for comatose survivors of in-hospital cardiac arrest. This study describes the safety, feasibility, and outcomes of mild induced hypothermia treatment following in-hospital cardiac arrest. Design:Prospective, observational, registry-based study. Setting:Forty-six critical care facilities in eight countries in Europe and the United States reporting in the Hypothermia Network Registry and the International Cardiac Arrest Registry. Patients:A total of 663 patients with in-hospital cardiac arrest and treated with mild induced hypothermia were included between January 2004 and February 2012. Interventions:None. Measurements and Main Results:A cerebral performance category of 1 or 2 was considered a good outcome. At hospital discharge 41% of patients had a good outcome. At median 6-month follow-up, 34% had a good outcome. Among in-hospital deaths, 52% were of cardiac causes and 44% of cerebral cause. A higher initial body temperature was associated with reduced odds of a good outcome (odds ratio, 0.79; 95% CI, 0.68–0.92). Adverse events were common; bleeding requiring transfusion (odds ratio, 0.56; 95% CI, 0.31–1.00) and sepsis (odds ratio, 0.52; 95% CI, 0.30–0.91) were associated with reduced odds for a good outcome. Conclusions:In this registry study of an in-hospital cardiac arrest population treated with mild induced hypothermia, we found a 41% good outcome at hospital discharge and 34% at follow-up. Infectious complications occurred in 43% of cases, and 11% of patients required a transfusion for bleeding. The majority of deaths were of cardiac origin.
Fixed-Term Employment and Fertility: Evidence from German Micro Data

We study the short- to medium-run effects of starting a career on a fixed-term contract on subsequent fertility outcomes. We focus on the career start since we expect that temporary contracts and their inherent economic uncertainty imply a path dependency which might have spill-over effects on other domains of life. Our empirical analysis is based on rich data from the German Socio-Economic Panel which provides comprehensive information about individuals' labour market history as well as fertility behaviour. Our main results are: Women (i) tend to postpone their first birth due to fixed-term employment at labour market entry and (ii) reduce the number of children in the first 10 years after graduation. These associations are strongest in the subsample of native women with at least vocational training. (iii) In contrast, we find no significant correlations for men. We argue that these findings are robust to potential endogeneity threats.
[Prevalence of psychiatric disorders in prisoners with a short imprisonment: results from a prison in north Germany].

OBJECTIVE The aim of the study was to determine the prevalence of mental disorders among prisoners with a short prison term. METHODS We investigated 102 participants with the Structured Clinical Interview for DSM Disorders (SCID I and II) and the Symptom Check List (SCL-90). RESULTS We found a lifetime-prevalence of mental disorders (axis I) of 83 %. 80 % of the participants showed at least one personality disorder. CONCLUSIONS These results indicate that short-term prisoners are a population which is highly troubled in a psychiatric sense and shows a need of treatment in prison.
Distribution of ABO blood types among fertile and infertile women.

The factors responsible for the maintenance of the ABO polymorphism in man have been the object of intensive but inconclusive investigation. Three principal but not mutually exclusive mechanisms can be visualized, namely, differential mortality of the ABO genotypes; distortions of the proportions of ABO blood groups, as from meiotic drive; and differential fertility of the ABO genotypes. This paper is concerned with the last possibility, first suggested in a paper by Hirszfeld and Zborowski (1925), who called attention to the possibility of a serological incompatibility of the gametes as a cause for infertility. Later studies of Hirszfeld (1934, 1938) failed to support this hypothesis, and the idea was abandoned. Since then, however, several reports have claimed detection of an association between ABO blood groups of the parents and the mean number of children produced in each family. Among these reports are the often quoted publications of Waterhouse and Hogben (1947); Allan (1953); Bryce et al. (1950); Kirk et al. (1953); Kirk et al. (1955); and Matsunaga and Itoh (1953, 1958). Other studies (Johnstone, 1954; Haga, 1959; Hiraizumi, 1964; Reed et al., 1964) have not revealed any such fertility differences related to the ABO blood groups of the parents.
Centred contact density functions for the statistical analysis of random sets A stereological study on benign and malignant glandular tissue using image analysis

Real structures investigated in the material and biological sciences, such as minerals or tissues, can often be reduced to two phases. In a stochastic approach, the components of such binary structures may be considered as the union of grains — random sets implanted with their centres at random points — and their complementary space, which is called the pore space. The simplest stochastic germ‐grain model is the Boolean model of random sets, which we use here instrumentally as a null model (reference model) for comparison with our biological material. After a brief review of basic properties of the Boolean model and related statistical methods, we introduce centred contact density functions as a new approach. Empirical contact density functions are estimated from the empirical contact distribution functions with an image analyser by dilation of the grain phase. Theoretical contact density functions are then predicted from a set of image parameters, under the assumption that the Boolean model holds. A centred contact density function is the difference between the estimated and the predicted contact density function. Apart from a random error term, centred contact density functions amount to zero irrespective of the area fraction of the grain phase, when the germ‐grain model is Boolean. As a section of a spatial Boolean model is a planar Boolean model, the method is also applicable in stereological studies where digitized images are obtained from sections of a three‐dimensional structure. Centred contact density functions were determined for mastopathic tissue as compared to mammary cancer, and for tumour‐free prostatic tissue as compared to prostatic cancer. For each category of specimens, twenty cases with 10 images each were analysed. Benign and malignant glandular tissue of the aforementioned types deviates significantly from the Boolean model. Centred contact density functions show that malignant transformation is connected with profound geometric remodelling of the pore space.