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Galactosialidosis (GS, OMIM #256540) is a systemic autosomal recessive disorder that is due to a mutation in the cathepsin A (CTSA) gene. Its worldwide prevalence is rare, accounting for ~146 cases reported cases globally. In Bahrain alone, nine cases have been confirmed. This article aims to shed a light on the clinical spectrum and outcome of these nine patients who share the same novel genetic mutation. The article was written retrospectively based on the review of patients' medical records, which included clinical notes, biochemical, radiological, and genetic assessments. Analysis of the data from all nine patients revealed that the diagnosis was most commonly made at the early years of life. As expected from any systemic disorder, the disease affects multiple organ systems with musculoskeletal and the gastrointestinal system being most commonly involved. Short stature, skeletal deformities, coarse facial features, and different degrees of hepatomegaly are among initial presentations of the disease. Notably, one of the patients described in this article, developed severe form of cardiomyopathy and another one, presented with nonimmune hydrops fetalis, both of which considered rare occurrences in the context of GS. Genetically, all patients had the similar genetic mutation confirmed by laboratory tests. A few patients have had their diagnoses made based upon family history alone.

This review presents the current methods used for determining ethyl glucuronide (EtG) and ethyl sulfate (EtS) concentrations in postmortem specimens, including sample preparation, analysis and the role of EtG and EtS in the postmortem assessment of the extent of alcohol abuse. Papers pertaining to postmortem investigation were collected from scientific databases and reviewed. The papers were published between January 2006 and October 2020. Most of the analyses involved postmortem blood and urine samples, with a few reports using other bodily specimens and tissues. The method validation was not conducted for all applications. These reports were mostly intended to present data rather than interpret them, and the lack of effort in relating these ethanol biomarkers with the cause of death and/or determination of the time of deaths due to ethanol intoxication might decrease the applicability of these makers after a promising start between 2006 and 2010. Nevertheless, by the beginning of 2020, papers investigating ethanol biomarkers were still increasing. A considerable number of methods used liquid chromatography coupled with mass spectrometry (LC-MS) techniques that require less sample preparation (e.g., protein precipitation extraction, dilution, filtration, and centrifugation). Although solid-phase extraction can be applied, only three applications were reported. Matrix effects can be a substantial challenge in analytical methods based on LC–MS because they directly affect the ionization of analytes. However, these problems can be avoided due to the high cutoff values used to identify positive results for these ethanol biomarkers, which are often above 0.1–1 mg/L, and using internal standards. Research on using tissue specimens is recommended as most of the reported results on this type of specimen were promising.

To investigate the seroprevalence of the community-acquired bacterial that causes atypical pneumonia among confirmed severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) patients.In this cohort study, we retrospectively investigated the seroprevalence ofThe seropositivity forOur study documented the seroprevalence of community-acquired bacteria co-infection among COVID-19 patients. In this study, procalcitonin was an inconclusive biomarker for non-severe bacterial co-infections among COVID-19 patients. Consideration and proper detection of community-acquired bacterial co-infection may minimize misdiagnosis during the current pandemic and positively reflect disease management and prognosis.

The emerging of the COVID-19 pandemic is currently challenging for the public health system globally. Beyond SARS-CoV-2 pathogenicity, co-infections with recycling respiratory pathogens, whether bacterial, viral, or fungal, might increase disease symptoms, morbidity, and mortality. In this study, we reported two COVID-19 cases in the early phase of the virus spread in Saudi Arabia with underdiagnosed respiratory viruses' co-infections, influenza B and Parainfluenza-2, detected retrospectively. Fortunately, both patients recovered and were discharged home. Underestimation of co-infection among COVID19 patients might lead to hospital stay prolongation and increases morbidity and mortality. Therefore, it is crucial to consider and screen for co-infecting pathogens among COVID-19 patients and those with risk factors.

This review presents the current methods used for determining ethyl glucuronide (EtG) and ethyl sulfate (EtS) concentrations in postmortem specimens, including sample preparation, analysis and the role of EtG and EtS in the postmortem assessment of the extent of alcohol abuse.Papers pertaining to postmortem investigation were collected from scientific databases and reviewed. The papers were published between January 2006 and October 2020.Most of the analyses involved postmortem blood and urine samples, with a few reports using other bodily specimens and tissues. The method validation was not conducted for all applications. These reports were mostly intended to present data rather than interpret them, and the lack of effort in relating these ethanol biomarkers with the cause of death and/or determination of the time of deaths due to ethanol intoxication might decrease the applicability of these makers after a promising start between 2006 and 2010. Nevertheless, by the beginning of 2020, papers investigating ethanol biomarkers were still increasing. A considerable number of methods used liquid chromatography coupled with mass spectrometry (LC-MS) techniques that require less sample preparation (e.g., protein precipitation extraction, dilution, filtration, and centrifugation). Although solid-phase extraction can be applied, only three applications were reported.Matrix effects can be a substantial challenge in analytical methods based on LC-MS because they directly affect the ionization of analytes. However, these problems can be avoided due to the high cutoff values used to identify positive results for these ethanol biomarkers, which are often above 0.1-1 mg/L, and using internal standards. Research on using tissue specimens is recommended as most of the reported results on this type of specimen were promising.

Objectives: The current study aimed to carry out a post-validation item analysis of multiple choice questions (MCQs) in medical examinations in order to evaluate correlations between item difficulty, item discrimination and distraction effectiveness so as to determine whether questions should be included, modified or discarded. In addition, the optimal number of options per MCQ was analysed. Methods: This cross-sectional study was performed in the Department of Paediatrics, Arabian Gulf University, Manama, Bahrain. A total of 800 MCQs and 4,000 distractors were analysed between November 2013 and June 2016. Results: The mean difficulty index ranged from 36.70–73.14%. The mean discrimination index ranged from 0.20–0.34. The mean distractor efficiency ranged from 66.50–90.00%. Of the items, 48.4%, 35.3%, 11.4%, 3.9% and 1.1% had zero, one, two, three and four nonfunctional distractors (NFDs), respectively. Using three or four rather than five options in each MCQ resulted in 95% or 83.6% of items having zero NFDs, respectively. The distractor efficiency was 91.87%, 85.83% and 64.13% for difficult, acceptable and easy items, respectively (P

Estimates show that asthma is highly prevalent across the different communities, and recent reports showed that by 2015, 300 million patients will be affected by asthma, and projections show that additional 100 million individuals will furtherly be affected by 2025. Many factors can attribute to the development of asthma, including genetic, environmental, and allergic causes. They have essential roles in the pathogenesis and development of the condition. Exposure to the different environmental factors has been an area of research for a long time to identify the potential factors that can cause sensitization and asthma development, especially among children that are more exposed to these factors because of their physical structure and daily outdoor activities. In the present literature review, we aim to provide a thorough discussion about the allergic and environmental causes of asthma in children. Our evidence indicates that exposure to different environmental factors including indoor and outdoor pollutants can significantly increase the risk of asthma. Furthermore, maternal exposure to certain pollutants in the prenatal period was also reported to be significantly associated with developing asthma in children around the age of 5 years old. Exposure to these substances increases the inflammatory and airway reactions leading to the development of asthma. Accordingly, healthcare authorities should plan for adequate interventions to reduce the exposure to these compounds among children and reduce the risk of developing asthma and respiratory tract morbidities.

Vasculitis is a vascular disorder characterized by inflammation of the blood vessels’ wall either as primary process or secondary to a systemic disorder. Though rare in paediatric age group, vasculitis may have a devastating and even fatal course. Vasculitides present with a wide range of clinical manifestation in childhood and they require a high index of suspicion for diagnosis. Vasculitis can be classified according to their clinical presentation, the size and location of the blood vessels affected, and histopathological patterns. Henoch- Schönlein purpura and Kawasaki disease are the two most common types of vasculitis occurring in children. Less common types include Takayasu arteritis, polyarteritis nodosa, Churg-Strauss syndrome, Wegener’s granulomatosis, microscopic polyangiitis, and others. Diagnosis of vasculitis is based on clinical, laboratory, and imaging features that should be collaborated to fulfil the established criteria for each form of the disease. Management depends on the stage of the disease (active disease, relapse, remission, or refractory disease) and should be tailored to each particular patient and each specific type of vasculitides. The aim of this article is to review the classification, clinical presentation, diagnosis, and management of different types of vasculitis in children. Keywords: Children, classification, clinical manifestations, epidemiology, management, paediatric, vasculitis.

Background. Analysis of clinical samples from patients with new viral infections is critical to confirm the diagnosis, to specify the viral load, and to sequence data necessary for characterizing the viral kinetics, transmission, and evolution. We analyzed samples from 112 patients infected with the recently discovered Middle East respiratory syndrome coronavirus (MERS-CoV). Methods. Respiratory tract samples from cases of MERS-CoV infection confirmed by polymerase chain reaction (PCR) were investigated to determine the MERS-CoV load and fraction of the MERS-CoV genome. These values were analyzed to determine associations with clinical sample type. Results. Samples from 112 individuals in which MERS-CoV was detected by PCR were analyzed, of which 13 were sputum samples, 64 were nasopharyngeal swab specimens, 30 were tracheal aspirates, and 3 were bronchoalveolar lavage specimens; 2 samples were of unknown origin. Tracheal aspirates yielded significantly higher MERS-CoV loads, compared with nasopharyngeal swab specimens (P = .005) and sputum specimens (P = .0001). Tracheal aspirates had viral loads similar to those in bronchoalveolar lavage samples (P = .3079). Bronchoalveolar lavage samples and tracheal aspirates had significantly higher genome fraction than nasopharyngeal swab specimens (P = .0095 and P = .0002, respectively) and sputum samples (P = .0009 and P = .0001, respectively). The genome yield from tracheal aspirates and bronchoalveolar lavage samples were similar (P = .1174). Conclusions. Lower respiratory tract samples yield significantly higher MERS-CoV loads and genome fractions than upper respiratory tract samples.

BACKGROUND: Accurate and economic detection of nerve damage in diabetes is key to more widespread diagnosis of patients with diabetic peripheral neuropathy (DPN) and painful diabetic neuropathy. This study examined the diagnostic performance of NerveCheck, an inexpensive ($500) quantitative sensory testing (QST) device.METHODS: One hundred forty-four subjects (74 with and 70 without diabetes) underwent assessment with NerveCheck, neuropathy disability score (NDS), nerve conduction studies (NCS), intraepidermal and corneal nerve fiber density (IENFD and CNFD), and McGill questionnaire for neuropathic pain.RESULTS: Of the 74 subjects with diabetes, 41 were diagnosed with DPN based on the NDS. The NerveCheck scores for vibration perception threshold (VPT), cold perception threshold (CPT), and warm perception threshold (WPT) were significantly lower (P ≤ 0.0001) in diabetic patients with DPN compared to patients without DPN. The diagnostic accuracy of VPT was high with reference to NCS (area under the curve [AUC]: 82%-84%) and moderate for IENFD, CNFD, and neuropathic pain (AUC: 60%-76%). The diagnostic accuracy of CPT and WPT was moderate with reference to NCS, IENFD, and CNFD (AUC: 69%-78%) and low for neuropathic pain (AUC: 63%-65%).CONCLUSIONS: NerveCheck is a low-cost QST device with good diagnostic utility for identifying sensory deficits, comparable to established tests of large and small fiber neuropathy and for the severity of neuropathic pain.

BACKGROUND Middle East respiratory syndrome coronavirus (MERS-CoV) causes severe respiratory illness in humans. Fundamental questions about circulating viruses and transmission routes remain. METHODS We assessed routinely collected epidemiologic data for MERS-CoV cases reported in Saudi Arabia during 1 January-30 June 2015 and conducted a more detailed investigation of cases reported during February 2015. Available respiratory specimens were obtained for sequencing. RESULTS During the study period, 216 MERS-CoV cases were reported. Full genome (n = 17) or spike gene sequences (n = 82) were obtained from 99 individuals. Most sequences (72 of 99 [73%]) formed a discrete, novel recombinant subclade (NRC-2015), which was detected in 6 regions and became predominant by June 2015. No clinical differences were noted between clades. Among 87 cases reported during February 2015, 13 had no recognized risks for secondary acquisition; 12 of these 13 also denied camel contact. Most viruses (8 of 9) from these 13 individuals belonged to NRC-2015. DISCUSSIONS Our findings document the spread and eventual predominance of NRC-2015 in humans in Saudi Arabia during the first half of 2015. Our identification of cases without recognized risk factors but with similar virus sequences indicates the need for better understanding of risk factors for MERS-CoV transmission.

AIMS: Sensory neuropathy is central to the development of painful neuropathy, and foot ulceration in patients with diabetes. Currently, available QST devices take considerable time to perform and are expensive. NerveCheck is the first inexpensive ($500), portable QST device to perform both vibration and thermal testing and hence evaluate diabetic peripheral neuropathy (DPN). This study was undertaken to establish the reproducibility and diagnostic validity of NerveCheck for detecting neuropathy.METHODS: 130 subjects (28 with DPN, 46 without DPN and 56 control subjects) underwent QST assessment with NerveCheck; vibration perception and thermal testing. DPN was defined according to the Toronto criteria.RESULTS: NerveCheck's intra correlation coefficient for vibration, cold and warm sensation testing was 0.79 (95% LOA: -4.20 to 6.60), 0.86 (95% LOA: -1.38 to 2.72) and 0.71 (95% LOA: -2.36 to 3.83), respectively. The diagnostic accuracy (AUC) for vibration, cold and warm sensation testing was 86% (SE: 0.038, 95% CI 0.79-0.94), 79% (SE: 0.058, 95% CI 0.68-0.91) and 72% (SE: 0.058, 95% CI 0.60-0.83), respectively.CONCLUSIONS: This study shows that NerveCheck has good reproducibility and comparable diagnostic accuracy to established QST equipment for the diagnosis of DPN.

Ebola hemorrhagic fever is a lethal viral disease transmitted by contact with infected people and animals. Ebola infection represents a worldwide health threat causing enormous mortality rates and fatal epidemics. Major concern is pilgrimage seasons with possible transmission to Middle East populations. In this review, we aim to shed light on Ebola hemorrhagic fever as regard: virology, transmission, biology, pathogenesis, clinical picture, and complications to get the best results for prevention and management. We also aim to guide future research to new therapeutic perspectives to precise targets. Our methodology was to review the literature extensively to make an overall view of the biology of Ebola virus infection, its serious health effects and possible therapeutic benefits using currently available remedies and future perspectives. Key findings in Ebola patients are fever, hepatic impairment, hepatocellular necrosis, lymphopenia (for T-lymphocyte and natural killer cells) with lymphocyte apoptosis, hemorrhagic manifestations, and complications. Pathogenesis in Ebola infection includes oxidative stress, immune suppression of both cell-mediated and humoral immunities, hepatic and adrenal impairment and failure, hemorrhagic fever, activation of deleterious inflammatory pathways, for example, tumor necrosis factor-related apoptosis-inducing ligand, and factor of apoptotic signal death receptor pathways causing lymphocyte depletion. Several inflammatory mediators and cytokines are involved in pathogenesis, for example, interleukin-2, 6, 8, and 10 and others. In conclusion, Ebola hemorrhagic fever is a serious fatal viral infection that can be prevented using strict health measures and can be treated to some extent using some currently available remedies. Newer treatment lines, for example, prophetic medicine remedies as nigella sativa may be promising.

The role of coronaviruses in paediatric gastro-enteritis is not well defined. We investigated the detection rate and epidemiological features of infection with coronavirus in children receiving hospital care for acute gastro-enteritis in Maddina, Saudi Arabia.Stool specimens were collected from children less than 5 years of age who were either hospitalised in Maddina or given oral rehydration therapy as outpatients between April 2004 and April 2005. Coronaviruses were detected by electron microscopy.Coronaviruses were detected in 63 (6%) of 984 children with acute gastro-enteritis and were more commonly detected in outpatients (47/423, 11%) than in inpatients (16/561, 3%). The median age (range) of children with coronavirus infection was 42 months (10-60). Coronaviruses were detected throughout the year with the highest detection rate at the end of the winter season.Coronaviruses were commonly identified in children with diarrhoea in Saudi Arabia. Their role in paediatric gastro-enteritis warrants further evaluation.

In anticipation of rotavirus vaccine introduction in Saudi Arabia, this study was undertaken to determine the distribution of the G and P genotypes of rotaviruses in order to examine whether there was any emerging serotype or unusual strain circulating in children in Saudi Arabia. Of 984 stool specimens collected between 17 April 2004 and 16 April 2005, rotavirus was detected by an enzyme-linked immunosorbent assay in 187 (19%) diarrheal children less than 5 years of age. Of these, 160 (86%) were classified into G and P genotypes as follows: G1P[8] (44%), G2P[4] (20%), G9P[8] (11%), G12P[8] (4%), and G3P[8] (4%). RNA polyacrylamide gel electrophoresis identified 94 (50%) specimens as long RNA patterns, 30 (16%) specimens as short RNA patterns, and 1 mixed infection. Only a single long RNA electropherotype was identified for seven specimens containing G12P[8] rotavirus. RNA-RNA hybridization demonstrated that the G12P[8] strains were similar in their genomic constellation to locally cocirculating strains and to a Nepalese G12P[8] strain. The Saudi Arabian G12 VP7 gene had a 99% nucleotide sequence identity with Nepalese and Indian G12 VP7 genes and belonged to the third lineage. This study is the first to describe the distribution of rotavirus G and P types and also the first to identify G9P[8] and G12P[8] strains in the country.

Neuropad is currently a categorical visual screening test that identifies diabetic patients at risk of foot ulceration. The diagnostic performance of Neuropad was compared between the categorical and continuous (image-analysis (Sudometrics)) outputs to diagnose diabetic peripheral neuropathy (DPN). 110 subjects with type 1 and 2 diabetes underwent assessment with Neuropad, Neuropathy Disability Score (NDS), peroneal motor nerve conduction velocity (PMNCV), sural nerve action potential (SNAP), Deep Breathing-Heart Rate Variability (DB-HRV), intraepidermal nerve fibre density (IENFD), and corneal confocal microscopy (CCM). 46/110 patients had DPN according to the Toronto consensus. The continuous output displayed high sensitivity and specificity for DB-HRV (91%, 83%), CNFD (88%, 78%), and SNAP (88%, 83%), whereas the categorical output showed high sensitivity but low specificity. The optimal cut-off points were 90% for the detection of autonomic dysfunction (DB-HRV) and 80% for small fibre neuropathy (CNFD). The diagnostic efficacy of the continuous Neuropad output for abnormal DB-HRV (AUC: 91%,P=0.0003) and CNFD (AUC: 82%,P=0.01) was better than for PMNCV (AUC: 60%). The categorical output showed no significant difference in diagnostic efficacy for these same measures. An image analysis algorithm generating a continuous output (Sudometrics) improved the diagnostic ability of Neuropad, particularly in detecting autonomic and small fibre neuropathy.

Human rotavirus, an important causative agent of severe gastroenteritis in infants and young children worldwide, leads to high morbidity in both developing and developed countries, including Saudi Arabia, and high mortality in developing countries. Effective control depends upon an accurate understanding of disease burden and the relative importance of circulating serotypes.We examined the epidemiology and disease burden of rotavirus in Saudi Arabia through a review of 22 published studies of rotavirus and the aetiology of diarrhoea carried out from 1982 to 2003.The prevalence of rotavirus infection ranged between 10% to 46% with a median of 30%. Most cases were among children less than 2 years of age, and particularly in the first year of life. There were significant differences in seasonality within Saudi Arabia, with increased infection during winter in some cities and during summer in others. G1 was the predominant serotype followed by G4, G3 and G2, in 4 studies where strains had been G-typed. The prevalence of nontypeable strains ranged from 11.0% to 31.3%. No data were available on P types. Results of electropherotyping in 4 studies revealed that the long electropherotype was predominant.Rotavirus is an important cause of severe diarrhoea in Saudi children. However, the available data on rotavirus strains in circulation are limited and there is an urgent need for up-to-date and comprehensive studies to evaluate rotavirus strains in circulation and identify unusual types that could be incorporated into future vaccines.

Diabetes mellitus is a common group of metabolic disorders characterized by chronic hyperglycaemia as a result of insulin deficiency, insulin resistance or both. Peripheral neuropathies are the most common complication of diabetes mellitus affecting approximately 50% of patients with type 1 and type 2 diabetes and can also occur in subjects with impaired glucose tolerance (IGT). They include a heterogeneous group of neuropathies affecting sensory, motor and autonomic nerves and present with a range of clinical manifestation which can lead to pain, foot ulceration and amputation. Vitamin D deficiency is a major health problem affecting approximately 1 billion individuals worldwide and it has been linked with diabetic neuropathy. This research aimed to explore the molecular relationship between vitamin D and neuropathy in subjects with IGT and diabetes. 30 subjects with IGT, 43 type 1 diabetic patients (T1DM) with mild neuropathy, 12 T1DM with severe neuropathy and 26 healthy control subjects were studied. Circulating 25(OH)D level was measured and vitamin D receptor (VDR) expression in skin biopsies was assessed using immunohistochemistry. The intensity of immunostaining on the stratum basale, stratum spinosum, overall microvessels and on the endothelial cells and pericytes of the microvessels was semi-quantified. Plasma 25(OH)D levels (nmol/L) were globally reduced in subjects with IGT (54.03+/-5.51), T1DM with mild neuropathy (73.02+/-6.21), T1DM with severe neuropathy (56.85+/-12.64) and control subjects (55.06+/-10.03). There was a significant increase in VDR expression in IGT subjects compared to control subject on the overall microvessels (P=0.02), endothelium (P=0.02) and pericytes (P=0.02), but there was no difference on overall epidermis (P=0.19), stratum basale (P=0.20) and stratum spinosum (P=0.09). There was an increase in VDR expression in T1DM with mild neuropathy compared to controls on the epidermis (P=0.02), stratum basale (P=0.02), stratum spinosum (P=0.02), overall microvessels (P