Dhahran Health Center

Nanomaterials have emerged as an amazing class of materials that consists of a broad spectrum of examples with at least one dimension in the range of 1 to 100 nm.

Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion, is linked to chromosome 11p14-15.1. The newly cloned high-affinity sulfonylurea receptor (SUR) gene, a regulator of insulin secretion, was mapped to 11p15.1 by means of fluorescence in situ hybridization. Two separate SUR gene splice site mutations, which segregated with disease phenotype, were identified in affected individuals from nine different families. Both mutations resulted in aberrant processing of the RNA sequence and disruption of the putative second nucleotide binding domain of the SUR protein. Abnormal insulin secretion in PHHI appears to be caused by mutations in the SUR gene.

Recently, research studies in the fields of science and engineering are directed towards the synthesis, design, development, and consumption of environment-friendly chemical species to replace traditional toxic chemicals.

Bilirubin, a breakdown product of heme, is normally glucuronidated and excreted by the liver into bile. Failure of this system can lead to a buildup of conjugated bilirubin in the blood, resulting in jaundice. The mechanistic basis of bilirubin excretion and hyperbilirubinemia syndromes is largely understood, but that of Rotor syndrome, an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics, has remained enigmatic. Here, we analyzed 8 Rotor-syndrome families and found that Rotor syndrome was linked to mutations predicted to cause complete and simultaneous deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3. These important detoxification-limiting proteins mediate uptake and clearance of countless drugs and drug conjugates across the sinusoidal hepatocyte membrane. OATP1B1 polymorphisms have previously been linked to drug hypersensitivities. Using mice deficient in Oatp1a/1b and in the multispecific sinusoidal export pump Abcc3, we found that Abcc3 secretes bilirubin conjugates into the blood, while Oatp1a/1b transporters mediate their hepatic reuptake. Transgenic expression of human OATP1B1 or OATP1B3 restored the function of this detoxification-enhancing liver-blood shuttle in Oatp1a/1b-deficient mice. Within liver lobules, this shuttle may allow flexible transfer of bilirubin conjugates (and probably also drug conjugates) formed in upstream hepatocytes to downstream hepatocytes, thereby preventing local saturation of further detoxification processes and hepatocyte toxic injury. Thus, disruption of hepatic reuptake of bilirubin glucuronide due to coexisting OATP1B1 and OATP1B3 deficiencies explains Rotor-type hyperbilirubinemia. Moreover, OATP1B1 and OATP1B3 null mutations may confer substantial drug toxicity risks.

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed according to standardized settings. We identified the underlying pathogenic or likely pathogenic variants in 307 families (30.7%). In further 253 families (25.3%) a variant of unknown significance, possibly explaining the clinical symptoms of the index patient was identified. WES enabled timely diagnosing of genetic diseases, validation of causality of specific genetic disorders of PTPN23, KCTD3, SCN3A, PPOX, FRMPD4, and SCN1B, and setting dual diagnoses by detecting two causative variants in distinct genes in the same patient. We observed a better diagnostic yield in consanguineous families, in severe and in syndromic phenotypes. Our results suggest that WES has a better yield in patients that present with several symptoms, rather than an isolated abnormality. We also validate the clinical benefit of WES as an effective diagnostic tool, particularly in nonspecific or heterogeneous phenotypes. We recommend WES as a first-line diagnostic in all cases without a clear differential diagnosis, to facilitate personal medical care.

The possibility to fulfill the increasing market demand and producers' needs in processing straightforwardly crude oil, a cheap and universally available feedstock, to produce petrochemicals appears to be a very attractive strategy.

BACKGROUND: The Middle East respiratory syndrome coronavirus (MERS-CoV) has been reported to have a high case-fatality rate. Currently, there is no specific therapy or vaccine with proven effectiveness for MERS-CoV infections. METHODS: A combination of ribavirin and interferon therapy was used for the treatment of five MERS-CoV-positive patients. We reviewed the therapeutic schedule and the outcome of these patients. RESULTS: All patients were critically ill with acute respiratory distress syndrome treated with adjunctive corticosteroids and were on mechanical ventilation at the time of initiation of therapy. The median time from admission to therapy with ribavirin and interferon was 19 (range 10-22) days. None of the patients responded to the supportive or therapeutic interventions and all died of their illness. CONCLUSIONS: While ribavirin and interferon may be effective in some patients, our practical experience suggests that critically ill patients with multiple comorbidities who are diagnosed late in the course of their illness may not benefit from combination antiviral therapy as preclinical data suggest. There is clearly an urgent need for a novel effective antiviral therapy for this emerging global threat.

Graphene is an ultra-thin material, which has received broad interest in many areas of science and technology because of its unique physical, chemical, mechanical and thermal properties.

The translation of "next-generation" sequencing directly to the clinic is still being assessed but has the potential for genetic diseases to reduce costs, advance accuracy, and point to unsuspected yet treatable conditions. To study its capability in the clinic, we performed whole-exome sequencing in 118 probands with a diagnosis of a pediatric-onset neurodevelopmental disease in which most known causes had been excluded. Twenty-two genes not previously identified as disease-causing were identified in this study (19% of cohort), further establishing exome sequencing as a useful tool for gene discovery. New genes identified included EXOC8 in Joubert syndrome and GFM2 in a patient with microcephaly, simplified gyral pattern, and insulin-dependent diabetes. Exome sequencing uncovered 10 probands (8% of cohort) with mutations in genes known to cause a disease different from the initial diagnosis. Upon further medical evaluation, these mutations were found to account for each proband's disease, leading to a change in diagnosis, some of which led to changes in patient management. Our data provide proof of principle that genomic strategies are useful in clarifying diagnosis in a proportion of patients with neurodevelopmental disorders.

We present an effective way to develop superhydrophobic steel surface which shows stable superhydrophobicity under harsh mechanical bending.

Catalytic CO₂ hydrosilylation is a chemical process that could be potentially applied to large-scale transformations.

Carbonate rock reservoirs comprise approximately 60% of the world’s oil and gas reserves. Complex flow mechanisms and strong adsorption of crude oil on carbonate formation surfaces can reduce hydrocarbon recovery of an oil-wet carbonate reservoir to as low as 10%. Low salinity waterflooding (LSW) has been confirmed as a promising technique to improve the oil recovery factor. However, the principal mechanism underpinning this recovery method is not fully understood, which poses a challenge toward designing the optimal salinity and ionic composition of any injection solution. In general, it is believed that there is more than one mechanism involved in LSW of carbonates; even though wettability alteration toward a more desirable state for oil to be recovered could be the main cause during LSW, how this alteration happens is still the subject of debate. This paper reviews different working conditions of LSW, previous studies, and field observations, alongside the proposed interfacial mechanisms which affect the colloidal interactions at oil–rock–brine interfaces. This paper provides a comprehensive review of studies on LSW in carbonate formation and further analyzes the latest achievements of LSW application in carbonates, which helps to better understand the challenges involved in these complicated multicomponent systems and potentially benefits the oil production industry.

The inhibition of mild steel corrosion in 1 M HCl by three newly synthesized 2,4-diamino-5-(phenylthio)-5<italic>H</italic>-chromeno[2,3-<italic>b</italic>]pyridine-3-carbonitriles was studied using the weight loss method, electrochemical techniques, surface morphology studies and theoretical methods.

The corrosion protection of N80 steel in 15% HCl using 2-(3-amino-5-oxo-4,5-dihydro-1<italic>H</italic>-pyrazol-1-yl)(<italic>p</italic>-tolyl)methyl)malononitrile (PZ-1) and 2-((3-amino-5-oxo-4,5-dihydro-1<italic>H</italic>-pyrazol-1-yl)(phenyl)methyl)malononitrile (PZ-2) has been investigated.

The experimental corrosion inhibition properties were supported by detailed theoretical studies that revealed the dependence of protection efficiency on proton affinity.

Chemically enhanced oil recovery methods are utilized to increase the oil recovery by improving the mobility ratio, altering the wettability, and/or lowering the interfacial tension between water and oil. Surfactants and polymers have been used for this purpose for the last few decades. Recently, nanoparticles have attracted the attention due to their unique properties. A large number of nanoparticles have been investigated for enhanced oil recovery applications either alone or in combination with surfactants and/or polymers. This review discusses the various types of nanoparticles that have been utilized in enhanced oil recovery. The review highlights the impact of nanoparticles on wettability alteration, interfacial tension, and rheology. The review also covers the factors affecting the oil recovery using nanoparticles and current challenges in field implementation.

To advance the progress of photoelectrolysis, various promising devices integrated with p- and n-type photocatalysts and dye sensitized photoelectrodes have been systematically studied. This review discusses, from theory to practice, an integration strategy for state-of-the-art dye sensitized solar cells (DSSCs) with potential p- and n-type photo-electrocatalysts or directly with dye sensitized photoanodes and cathodes for hydrogen and oxygen production through water splitting. Thorough insight into the theoretical approach which systematically drives the photoelectrolysis reaction directly or in a coupled mode, with diverse configurations of DSSCs and other photovoltaic (PV) cells, is crucial to understand the underlying fundamental concepts and elucidate trends in such reactions, and will serve as a guide to design new electrocatalysts and their integration with new PV devices, while simultaneously underlining major gaps that are required to address the challenges. Likewise, challenges, opportunities and frontiers in tandem and hybrid perovskite electrolysis processes are also discoursed in the present tutorial review. We illustrate our analysis by encompassing these integrated systems to photo-electrolysis, artificial photosynthesis such as CO2 conversion into value-added chemical reduction-products, where advancements in new catalysts and solution-processed inexpensive PV devices can certainly enrich the overall performance of the renewable production of solar fuels, including solar driven carbonaceous fuels.

can be exploited as an effective candidate for antibacterial and dye degradation applications.

The inhibition of mild steel corrosion in 1 M HCl by four 5-arylpyrimido-[4,5-<italic>b</italic>]-quinoline-diones has been investigated using weight loss, electrochemical, surface, and quantum chemical calculations and molecular dynamics simulation methods.

Two isoxazolidine derivatives (BDMTI and HMBTI) were synthesized and characterized using FTIR, C-NMR, H-NMR and elemental analysis and evaluated as corrosion inhibitors for X60 steel in 1 M HCl solution.