Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).

A rare type of autosomal recessive skeletal disorder, known as microcephalic osteodysplastic primordial dwarfism (MOPD) type II, causes a wide range of clinical abnormalities, including skeletal dysplasia, microcephaly, abnormal skin pigmentation, insulin resistance, typical facial features, and severe tooth deformities. Given the diverse manifestations of MOPD disorders and the overlapping clinical characteristics among primordial dwarfism (PD) subtypes, mutation analysis is crucial for accurate diagnosis and confirmation of MOPD II. In this study, whole-exome sequencing (WES) and GAP-PCR were employed to identify relevant genetic variants in three patients suspected of having MOPD.

A new sensitive layer based on clcinated Zn/Ti-MOF/magnetic molecularly imprinted polypyrrole: Application to preconcentration and electrochemical determination of perfluorooctane sulfonic acid by magnetic carbon paste electrode.

In this research, a new approach based on magnetic electrodes has been developed for the determination of per-fluorooctane sulfonic acid (PSOF). Zinc and Titanium-based Metal-organic framework (MOF) was synthesized and used with polypyrrole as a conductive polymer for preparation of the absorbent to achieve the best performance for electrochemical application. The response of the electrode for determination of the PFOS was affected and optimized by different factors such as buffer solution, pH of the solution, amount of absorbent, extraction time of absorbent, accumulation time, as well as the Square Wave Voltammetry (SWV) instrumental parameters including voltage step, pulse amplitude, frequency and resting time.

Simultaneous Determination of Estradiol Cypionate and Medroxyprogesterone Acetate Hormones in Injectable Suspension by UV Spectrophotometry Based on Least-Squares Support Vector Machine and Fuzzy Inference System: Comparison with HPLC.

Background: The combination of estradiol cypionate (ECA) and medroxyprogesterone acetate (MPA) is used to prevent pregnancy in women. The analysis of the ECA and MPA combination reveals a challenge due to the strong overlap of the spectra of these compounds.

Objective: Spectrophotometry techniques along with chemometrics methods are simple, fast, precise, and low-cost for the simultaneous determination of ECA and MPA in a combined pharmaceutical dosage form.

Simultaneous Quantitative Analysis of Salmeterol and Fluticasone in Inhalation Spray Using HPLC and a Fast Spectrophotometric Technique Combined with a Time Series Neural Network and Multivariate Calibration Methods.

Background: Chromatographic methods have been used for the simultaneous determination of salmeterol (SMT) and fluticasone (FLU). The methods take a lot of analysis time, need sample pre-treatment and large amounts of solvents, and are costly.

Objective: The aim of this paper was to propose a simple, quick, and low-cost method for the determination of SMT and FLU using a time series neural network and multivariate calibration methods, including partial least-squares (PLS) and principal component regression (PCR).

Design of new sensing layer based on ZnO/NiO/FeO/MWCNTs nanocomposite for simultaneous electrochemical determination of Naproxen and Sumatriptan.

Naproxen sodium (NAP) and Sumatriptan (SUM) are pharmacological migraine therapies that are more efficient when administered in combination. In the present work, an electrochemical sensor was developed for simultaneous and sensitive NAP and SUM detection using MWCNTs decorated with ZnO, NiO and FeO nanoparticles on glassy carbon electrode (GCE). This report is the first research on simultaneous electrochemical measuring the target drugs based on the literature.

Modeled Emission of Hydroxyl and Ozone Reactivity from Evaporation of Fragrance Mixtures.

Volatile chemical products (VCPs) account for increasing fractions of organic carbon emitted to the atmosphere, particularly in urban areas. Fragrances are potentially reactive components that are added to many VCPs. To better constrain these emissions, 11 commercially available liquid fragrance mixtures were characterized for their composition and their evaporation modeled.

Detailed chemical characterization of the composition and variability of soil gas at remediated residential heating oil discharges.

Underground storage tanks containing petroleum or other hazardous substances are used widely for residential storage of home heating oil. Spills and leaks of fuel from these tanks are common, and resulting subsurface petroleum vapors may pose health risks. However, understanding of this risk is limited by a lack of observational data on the chemical composition of vapors from discharged fuel.

Formation of disinfection byproducts during Fenton's oxidation of chloride-rich landfill leachate.

Because of the production of chlorine species in leachate during Fenton's oxidation, harmful disinfection byproducts (DBP) can be formed but this has not been well studied before. Herein, we have investigated five classes of DBP: trihalomethanes, haloacetic acids, haloacetonitriles, haloketones, and halonitromethanes during Fenton's oxidation of landfill leachates. The results show that the DBP concentration increased with the increase of [HO]: [Cl] ratio due to the increased concentration of chlorine species.

Incidence of unipolar and bipolar depression, and mania in adults with intellectual disabilities: prospective cohort study.

Background: Incidence and determinants of affective disorders among adults with intellectual disabilities are unknown.AimsTo investigate affective disorder incidence, and determinants of unipolar depression, compared with general population reports.

Method: Prospective cohort study measuring mental ill health of adults with mild to profound intellectual disabilities living within a defined community, over 2 years.

The relationship between physical ill-health and mental ill-health in adults with intellectual disabilities.

Background: People with intellectual disabilities face a much greater burden and earlier onset of physical and mental ill-health than the general adult population. Physical-mental comorbidity has been shown to result in poorer outcomes in the general population, but little is known about this relationship in adults with intellectual disabilities.

Aims: To identify whether physical ill-health is associated with mental ill-health in adults with intellectual disabilities and whether the extent of physical multi-morbidity can predict the likelihood of mental ill-health.

Prevalence of physical conditions and multimorbidity in a cohort of adults with intellectual disabilities with and without Down syndrome: cross-sectional study.

Objectives: To investigate the prevalence of multimorbidity in adults with intellectual disabilities with and without Down syndrome.

Design: Large, population-based cross-sectional study.

Setting: The geographical area of one Health Board, Scotland.

Identification and characterization of phenylacetonitrile as a nitrogenous disinfection byproduct derived from chlorination of phenylalanine in drinking water.

Unregulated disinfection byproducts (DBPs), including nitrogenous disinfection byproducts (N-DBPs), originating from chlorination of the precursor amino acid phenylalanine in aqueous systems, were identified in laboratory reactions and distributed tap. The major N-DBP identified was phenylacetonitrile, and minor DBPs of benzyl chloride, phenylacetaldehyde, 2-chlorobenzyl cyanide, and 2, 6-diphenylpyridine were also formed. Phenylacetonitrile was generated through decarboxylation, dechlorination and/or hydrolysis processes.

Subtleties of human exposure and response to chemical mixtures from spills.

Worldwide, chemical spills degrade drinking water quality and threaten human health through ingestion and inhalation. Spills are often mixtures of chemicals; thus, understanding the interaction of chemical and biological properties of the major and minor components is critical to assessing human exposure. The crude (4-methylcyclohexyl)methanol (MCHM) spill provides an opportunity to assess such subtleties.

Problem behaviours and symptom dimensions of psychiatric disorders in adults with intellectual disabilities: An exploratory and confirmatory factor analysis.

Background: The limited evidence on the relationship between problem behaviours and symptoms of psychiatric disorders experienced by adults with intellectual disabilities leads to conflict about diagnostic criteria and confused treatment. This study examined the relationship between problem behaviours and other psychopathology, and compared the predictive validity of dimensional and categorical models experienced by adults with intellectual disabilities.

Methods: Exploratory and confirmatory factor analyses appropriate for non-continuous data were used to derive, and validate, symptom dimensions using two clinical datasets (n=457; n=274).

Statistical modelling studies examining the dimensional structure of psychopathology experienced by adults with intellectual disabilities: Systematic review.

Diagnosing mental ill-health using categorical classification systems has limited validity for clinical practice and research. Dimensions of psychopathology have greater validity than categorical diagnoses in the general population, but dimensional models have not had a significant impact on our understanding of mental ill-health and problem behaviours experienced by adults with intellectual disabilities. This paper systematically reviews the methods and findings from intellectual disabilities studies that use statistical methods to identify dimensions of psychopathology from data collected using structured assessments of psychopathology.

Aerobic and anaerobic microbial degradation of crude (4-methylcyclohexyl)methanol in river sediments.

Cyclohexane and some of its derivatives have been a major concern because of their significant adverse human health effects and widespread occurrence in the environment. The 2014 West Virginia chemical spill has raised public attention to (4-methylcyclohexyl)methanol (4-MCHM), one cyclohexane derivative, which is widely used in coal processing but largely ignored. In particular, the environmental fate of its primary components, cis- and trans-4-MCHM, remains largely unexplored.

Degradation of cis- and trans-(4-methylcyclohexyl) methanol in activated sludge.

Crude (4-methylcyclohexyl)methanol (MCHM) caused extensive contamination of drinking water, wastewater, and the environment during the 2014 West Virginia Chemical Spill. However, information related to the environmental degradation of cis- and trans-4-MCHM, the main components of the crude 4-MCHM mixture, remains largely unknown. This study is among the first to investigate the degradation kinetics and transformation of 4-MCHM isomers in activated sludge.

Assessing human exposure and odor detection during showering with crude 4-(methylcyclohexyl)methanol (MCHM) contaminated drinking water.

In 2014, crude (4-methylcyclohexyl)methanol (MCHM) spilled, contaminating the drinking water of 300,000 West Virginians and requiring "do not use" orders to protect human health. When the spill occurred, known crude MCHM physicochemical properties were insufficient to predict human inhalation and ingestion exposures. Objectives are (1) determine Henry's Law Constants (HLCs) for 4-MCHM isomers at 7, 25, 40, and 80°C using gas chromatography; (2) predict air concentrations of 4-MCHM and methyl-4-methylcyclohexanecarboxylate (MMCHC) during showering using an established shower model; (3) estimate human ingestion and inhalation exposure to 4-MCHM and MMCHC; and (4) determine if predicted air 4-MCHM exceeded odor threshold concentrations.

Tale of two isomers: complexities of human odor perception for cis- and trans-4-methylcyclohexane methanol from the chemical spill in West Virginia.

Application of gas chromatography with mass spectrometric and human olfactory "sniffer" detectors reveals the nature of odorous chemicals from an industrial chemical spill. Crude 4-methylcyclohexane methanol (4-MCHM) spilled in a river and then contaminated drinking water and air for over 300000 consumers living in West Virginia. Olfactory gas chromatography allows investigators to independently measure the odor of chemical components in a mixture.

Prevalence and associations of anxiety disorders in adults with intellectual disabilities.

Background: Anxiety disorders are known to be common in the general population. Previous studies with adults with intellectual disabilities (IDs) report a prevalence of general anxiety disorder ranging from <2% to 17.4%.

Neighbourhood deprivation, health inequalities and service access by adults with intellectual disabilities: a cross-sectional study.

Background: Adults with intellectual disabilities (IDs) experience health inequalities and are more likely to live in deprived areas. The aim of this study was to determine whether the extent of deprivation of the area a person lives in affects their access to services, hence contributing to health inequalities.

Method: A cross-sectional study design was used.

A cohort study of the prevalence of sleep problems in adults with intellectual disabilities.

Previous studies of the prevalence of sleep problems in adults with intellectual disabilities (ID) are affected by small, potentially biased samples and other limitations. This study aims to determine the prevalence and associations of sleep problems in the adult population with ID. The 4-week period prevalence of sleep problems was determined in a cross-sectional study of all adults with ID in a defined geographical area.