Bathymetry estimation for coastal regions using self-attention.

Bathymetric mapping of the coastal area is essential for coastal development and management. However, conventional bathymetric measurement in coastal areas is resource-expensive and under many constraints. Various research have been conducted to improve the efficiency or effectiveness of bathymetric estimations.

Improved estimation of carbon dioxide and methane using machine learning with satellite observations over the Arabian Peninsula.

Estimating spatiotemporal maps of greenhouse gases (GHGs) is important for understanding climate change and developing mitigation strategies. However, current methods face challenges, including the coarse resolution of numerical models, and gaps in satellite data, making it essential to improve the spatiotemporal estimation of GHGs. This study aims to develop an advanced technique to produce high-fidelity (1 km) maps of CO and CH over the Arabian Peninsula, a highly vulnerable region to climate change.

Report of DeSanto-Shinawi Syndrome in Three Boys With Two Novel Variants in the WAC Gene and Expansion of the Phenotype.

Desanto-Shinawi syndrome (DESSHS) is a rare autosomal dominant disorder caused by a loss of function variant or deletion of the WAC gene. DESSHS is characterized by dysmorphic features and global developmental delay. In this report, we discuss three boys with DESSHS.

Iodide ion-imprinted chitosan beads for highly selective adsorption for nuclear wastewater treatment applications.

Iodide ions from radioactive iodine isotopes are common contaminants present in nuclear wastewater from nuclear power plants which are considered hazardous contaminants to be released in water sources even at low concentrations due to their association with metabolic disorders, therefore its removal from the nuclear wastewater effluents is necessary. Chitosan beads are natural and cost-efficient adsorbents that have been used for ion removal from wastewater. However, issues of poor selectivity persist in achieving high-efficiency iodide ion removal.

Upwelling and nutrient dynamics in the Arabian Gulf and sea of Oman.

This study demonstrates the vertical and horizontal distribution of nutrients and the seasonal response of nutrients to upwelling in the Arabian Gulf and the Sea of Oman. Thus, monthly data on nitrate, phosphate, and silicate are obtained from the World Ocean Atlas 2018 (WOA), as well as estimates of coastal and curl driven upwelling in both regions. The results of the study indicate that the Sea of Oman's surface and deep waters contained higher concentrations of nutrients than the Arabian Gulf by 80%.

Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.

Studies on the acceptance of prenatal diagnosis and termination of pregnancy for single gene disorders within Islamic societies in the Middle East are limited. A few have examined the attitudes toward pregnancy termination for fetal indications, but a dearth of published data exists on actual behavior and uptake. This study reports on all prenatal diagnosis requests for single gene disorders, from the Sultanate of Oman, over 9 years.

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the gene.

Purpose: We sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause.

Methods: Exome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA sequencing of samples from the nasal mucosa from patients, carriers and controls followed by transcriptome analysis was performed.

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients.

Biallelic pathogenic variants in POC1A are ultra rare. They have been reported in 13 families as causing either Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis (SOFT) syndrome, or a milder partially overlapping phenotype, variant POC1A-related syndrome. This pleiotropic effect is likely precipitated by the variant's location and respective affected protein domain.

Myocarditis as a lupus challenge: two case reports.

Background: Myocarditis is an uncommon manifestation of systemic lupus erythematosus in which the clinical presentation can range from subclinical to life-threatening. We report cases of two patients who presented to our hospital with myocarditis as an initial manifestation of systemic lupus erythematosus despite negative results of extensive workup that excluded other diagnoses. The mainstays of treatment are corticosteroids, immunosuppressive agents, and anti-heart failure medications, with use of the latter being case-specific.

Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review.

Pallister-Killian mosaic syndrome (PKS) is a rare sporadic condition with multiple congenital anomalies and intellectual deficits caused by mosaic tissue-limited tetrasomy of the short arm of chromosome 12 (12p). The clinical features are highly variable, ranging from mild to severe. Diagnosis is usually missed because of the low level of mosaicism in peripheral lymphocytes.

Towards establishing consistency in triage in a tertiary specialty.

Clinical Genetics services provide a diagnostic, counselling and genetic testing service for children and adults affected by, or at risk of, a genetic condition, most of which are rare, and/or genetically heterogeneous. Appropriate triage of referrals is crucial to ensure that the most urgent referrals are seen as quickly as possible, without negatively impacting the waiting times of less urgent cases. We aimed to examine triage practice in six Clinical Genetic centres across the United Kingdom and Ireland.

NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.

The spectrum of phenotypes associated with heterozygous deletions of neurexin-1 (NRXN1) is diverse and includes: autism spectrum disorder, attention deficit hyperactivity disorder, intellectual disability, seizures, schizophrenia, mood disorders and congenital malformations. Reduced penetrance and variable expressivity of deletions in this gene remain a challenge for genetic counselling. We clinically reviewed 67 NRXN1 deletions from 34 families to document the phenotype and determine odds ratio.

In situ spectral response of the Arabian Gulf and Sea of Oman coastal waters to bio-optical properties.

Mapping of Chlorophyll-a (Chl-a) over the coastal waters of the Arabian Gulf and the Sea of Oman using the satellite-based observations, such as MODIS (Moderate Resolution Imaging Spectro-radiometer), has shown inferior performance (Chl-a overestimation) than that of deep waters. Studies in the region have shown that this poor performance is due to three reasons: (i) water turbidity (sediments re-suspension), and the presence of colored dissolved organic matter (CDOM), (ii) bottom reflectance and (iii) incapability of the existing atmospheric correction models to reduce the effect of the aerosols from the water leaving radiance. Therefore, this work focuses on investigating the sensitivity of the in situ spectral signatures of these coastal waters to the algal (chlorophyll: Chl-a), non-algal (sediments and CDOM) and the bottom reflectance properties, in absence of contributions from the atmosphere.

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Rubinstein-Taybi syndrome (RTS) is an autosomal dominant neurodevelopmental disorder characterized by growth deficiency, broad thumbs and great toes, intellectual disability and characteristic craniofacial appearance. Mutations in CREBBP account for around 55% of cases, with a further 8% attributed to the paralogous gene EP300. Comparatively few reports exist describing the phenotype of Rubinstein-Taybi because of EP300 mutations.

Analysis of the spatio-temporal variability of seawater quality in the southeastern Arabian Gulf.

In this study, seawater quality measurements, including salinity, sea surface temperature (SST), chlorophyll-a (Chl-a), Secchi disk depth (SDD), pH, and dissolved oxygen (DO), were made from June 2013 to November 2014 at 52 stations in the southeastern Arabian Gulf. Significant variability was noticed for all collected parameters. Salinity showed a decreasing trend, and Chl-a, DO, pH, and SDD demonstrated increasing trends from shallow onshore stations to deep offshore ones, which could be attributed to variations of ocean circulation and meteorological conditions from onshore to offshore waters, and the likely effects of desalination plants along the coast.

An overview of historical harmful algae blooms outbreaks in the Arabian Seas.

Harmful algae blooms (HABs), often composed of oceanic plants called phytoplankton, are potentially harmful to the marine life, water quality, human health, and desalination plants, a chief source of potable water in the Arabian Gulf. The last decade has seen a noticeable increase in the frequency of HAB outbreaks in the Arabian Seas. This increase is mainly caused by the unprecedented economic growth in the region.