Permanent Neonatal Diabetes in a Patient with a KCNJ11/Q52R Mutation Accompanied by Intermittent Hypoglycemia and Liver Failure

The most common monogenic cause of neonatal diabetes is mutation in KCNJ11, which encodes a potassium channel in pancreatic beta cells. Some mutations in this gene, including Q52R, have been described in association with neurological deficits, but never with hepatic involvement. We report the second case of neonatal diabetes in a patient with a KCNJ11/Q52R mutation. This patient's clinical course did not include obvious neurological deficits despite the presence of prematurity, but did include transient hyperbilirubinemia, and recurrent hypoglycemia. The phenotypic spectrum of KCNJ11 mutations is variable and is likely influenced by additional genetic and environmental factors

Evaporite karst geohazards in the Delaware Basin, Texas: review of traditional karst studies coupled with geophysical and remote sensing characterization

Evaporite karst throughout the Gypsum Plain of west Texas is complex and extensive, including manifestations ranging from intrastratal brecciation and hypogene caves to epigene features and suffosion caves. Recent advances in hydrocarbon exploration and extraction has resulted in increased infrastructure development and utilization in the area; as a result, delineation and characterization of potential karst geohazards throughout the region have become a greater concern. While traditional karst surveys are essential for delineating the subsurface extent and morphology of individual caves for speleogenetic interpretation, these methods tend to underestimate the total extent of karst development and require surficial manifestation of karst phenomena. Therefore, this study utilizes a composite suite of remote sensing and traditional field studies for improved karst delineation and detection of potential karst geohazards within gypsum karst. Color InfraRed (CIR) imagery were utilized for delineation of lineaments associated with fractures, while Normalized Density Vegetation Index (NDVI) analyses were used to delineate regions of increased moisture flux and probable zones of shallow karst development. Digital Elevation Models (DEM) constructed from high-resolution LiDAR (Light Detection and Ranging) data were used to spatially interpret sinkholes, while analyses of LiDAR intensity data were used in a novel way to categorize local variations in surface geology. Resistivity data, including both direct current (DC) and capacitively coupled (CC) resistivity analyses, were acquired and interpreted throughout the study area to delineate potential shallow karst geohazards specifically associated with roadways of geohazard concern; however, detailed knowledge of the surrounding geology and local karst development proved essential for proper interpretation of resistivity inversions. The composite suite of traditional field investigations and remotely sensed karst delineations used in this study illustrate how complex gypsum karst terrains can be characterized with greater detail through the utilization of rapidly advancing technologies, especially in arid environments with low vegetation densities

A schematic overview of the current status of male infertility practice.

The practice of male infertility has dramatically evolved over the past few decades. This has been achieved after the realization of the important contribution the male counterpart holds in the couple's infertility. It is also supported by a number of breakthroughs in the diagnosis and treatment of this medical condition. Several tests to investigate sperm quality and function were introduced along with refinements and/or institution of novel surgical techniques that can correct several causes of infertility. This manuscript is aimed at highlighting the current state of male infertility practice in a robust, schematic method addressing a broader audience involved in the treatment of male infertility

Nocturnal Dexamethasone versus Hydrocortisone for the Treatment of Children with Congenital Adrenal Hyperplasia

Classic congenital adrenal hyperplasia affects approximately 1 in 15,000 children. Current treatment strategies using multiple daily doses of hydrocortisone lead to suboptimal outcomes. We tested the hypothesis that nocturnal administration of dexamethasone will suppress the hypothalamic-pituitary-adrenal axis more effectively than standard hydrocortisone treatment by blocking the inherent diurnal secretion of ACTH. We performed a pilot study of five prepubertal patients comparing CAH control during two 24-hour hospitalizations, one on hydrocortisone and the other on dexamethasone. The patterns of adrenal suppression differed markedly between hydrocortisone and nocturnal dexamethasone, with significant suppression of the morning rise in ACTH, 17-hydroxyprogesterone, and androstenedione while on dexamethasone. On hydrocortisone therapy, there is a marked variation in ACTH and adrenal hormones depending on time of day and timing of hydrocortisone administration. Longer-term studies are needed to investigate the lowest effective dose and potential toxicity of nocturnal dexamethasone to determine its utility as a therapy for CAH

Evaluating interpretable machine learning predictions for cryptocurrencies

This study explores various machine learning and deep learning applications on financial data modelling, analysis and prediction processes. The main focus is to test the prediction accuracy of cryptocurrency hourly returns and to explore, analyse and showcase the various interpretability features of the ML models. The study considers the six most dominant cryptocurrencies in the market: Bitcoin, Ethereum, Binance Coin, Cardano, Ripple and Litecoin. The experimental settings explore the formation of the corresponding datasets from technical, fundamental and statistical analysis. The paper compares various existing and enhanced algorithms and explains their results, features and limitations. The algorithms include decision trees, random forests and ensemble methods, SVM, neural networks, single and multiple features N-BEATS, ARIMA and Google AutoML. From experimental results, we see that predicting cryptocurrency returns is possible. However, prediction algorithms may not generalise for different assets and markets over long periods. There is no clear winner that satisfies all requirements, and the main choice of algorithm will be tied to the user needs and provided resources

LiSc(BH_4)_4 as a Hydrogen Storage Material: Multinuclear High-Resolution Solid-State NMR and First-Principles Density Functional Theory Studies

A lithium salt of anionic scandium tetraborohydride complex, LiSc(BH_4)_4, was studied both experimentally and theoretically as a potential hydrogen storage medium. Ball milling mixtures of LiBH_4 and ScCl_3 produced LiCl and a unique crystalline hydride, which has been unequivocally identified via multinuclear solid-state nuclear magnetic resonance (NMR) to be LiSc(BH_4)_4. Under the present reaction conditions, there was no evidence for the formation of binary Sc(BH_4)_3. These observations are in agreement with our first-principles calculations of the relative stabilities of these phases. A tetragonal structure in space group I (#82) is predicted to be the lowest energy state for LiSc(BH_4)_4, which does not correspond to structures obtained to date on the crystalline ternary borohydride phases made by ball milling. Perhaps reaction conditions are resulting in formation of other polymorphs, which should be investigated in future studies via neutron scattering on deuterides. Hydrogen desorption while heating these Li−Sc−B−H materials up to 400 °C yielded only amorphous phases (besides the virtually unchanged LiCl) that were determined by NMR to be primarily ScB_2 and [B_(12)H_(12)]^(−2) anion containing (e.g., Li_2B_(12)H_(12)) along with residual LiBH_4. Reaction of a desorbed LiSc(BH_4)_4 + 4LiCl mixture (from 4LiBH_4/ScCl_3 sample) with hydrogen gas at 70 bar resulted only in an increase in the contents of Li_2B_(12)H_(12) and LiBH_4. Full reversibility to reform the LiSc(BH_4)_4 was not found. Overall, the Li−Sc−B−H system is not a favorable candidate for hydrogen storage applications

Efficacy of antioxidant supplementation on conventional and advanced sperm function tests in patients with idiopathic male infertility.

Antioxidants are used in the empirical treatment of infertile men. The aim of this study was to evaluate the effects of antioxidant therapy on conventional semen parameters and advanced sperm function tests in men seeking fertility treatment. A total of 148 infertile men of unknown etiology were divided into idiopathic (n = 119) and unexplained male infertility (UMI; n = 29). All participants were treated with the antioxidant supplement 'FH PRO for Men' for a period of three months. Compared with pretreatment results, there was a significant improvement in conventional semen parameters including sperm concentration, total and progressive motility and normal morphology, and seminal oxidation reduction potential (ORP), and sperm DNA fragmentation (SDF) in idiopathic infertile men. The changes were more prominent in idiopathic infertile men positive for ORP and SDF. UMI patients showed an improvement in progressive motility, ORP, and SDF after antioxidant treatment. Statistical analysis revealed that the efficacy of FH PRO for Men was significant in idiopathic male infertility compared with UMI. Treatment of idiopathic male infertility patients with the FH PRO for Men antioxidant regimen for three months resulted in a significant improvement in conventional semen parameters and sperm function. Therefore, FH PRO for Men offers promise for the medical treatment of idiopathic male infertility

Chromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar and their association with sperm retrieval intracytoplasmic sperm injection outcomes

Objective: To study the types and incidence of chromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar, and to compare the hormonal changes, testicular sperm retrieval rate, and intracytoplasmic sperm injection (ICSI) outcome between patients with chromosomal abnormalities and patients with idiopathic infertility. Patients and methods: This study involved the retrospective chart review of 625 infertile male patients attending an academic tertiary medical centre in Qatar. Retrieved information included data on medical history, family history, clinical examination, semen analysis, initial hormonal profiles, and genetic studies, ICSI, and sperm retrieval results. Results: The incidence of chromosomal abnormalities was 9.59% (10.6% amongst Qatari patients, 9.04% amongst non-Qataris). About 63.6% of the sample had azoospermia, of whom 10.8% had chromosomal abnormalities. Roughly 36.4% of the sample had oligozoospermia, of whom 7.5% had chromosomal abnormalities. There were no differences between patients with chromosomal abnormalities and those with idiopathic infertility for demographic and infertility features; but for the hormonal profiles, patients with idiopathic infertility had significantly lower luteinising hormone and follicle-stimulating hormone values. For ICSI outcomes, patients with chromosomal abnormalities had a significantly lower total sperm retrieval rate (47.4% vs 65.8%), surgical sperm retrieval rate (41.2% vs 58.1%), and lower clinical pregnancy rate (16.7% vs 26.6%) when compared to the idiopathic infertility group. Conclusion: The incidence of chromosomal abnormalities in Qatar as a cause of severe male infertility is within a similar range as their prevalence internationally. - 2017 Arab Association of UrologyScopu