35 research outputs found

    Detection of FXIII gene V34L and fibrinogen β-gene -455G/A polymorphisms among Saudi Arabia population via polymerase chain reaction-reverse hybridization technique

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    FXIII gene Val34Leu variant appears to be associated with decreased risk of myocardial infarction and venous thromboembolism as well as with increased risk of intracerebral hemorrhage. Fibrinogen β-gene SNP -455G/A are associated with differences in the plasma levels of fibrinogen and severity of arterial disease. The aim of the present work was to study the prevalence of FXIII gene V34L and Fibrinogen β-gene -455G/A SNPs in Saudi population. Among 200 blood samples randomly collected from unrelated healthy Saudi subjects, FXIII gene V34L and Fibrinogen β-gene -455G/A SNPs were genotyped via cardiovascular disease (CVD) StripAssay (ViennaLab, Austria. Homozygous (V/V) and heterozygous (V/L) genotypes were detected with 96 and 4%, respectively, among FXIII gene V34L genotypes, whereas (L/L) genotype was not found. The allele frequency was 0.98 for V allele and 0.02 for L allele. Three genotypes of Fibrinogen β-gene -455G/A SNP (GG, GA and AA) were obtained and its prevalence (%) was 70, 25 and 5, respectively. The frequency of G allele was 0.825 and 0.175 for A allele. Prevalence of FXIII gene Vl34L polymorphism and its allele frequency are in line with other Asian populations. Distribution of β-gene -455G/A genotypes and allele frequency are in accordance with previous reports in different ethnic groups. This is the first time to report these polymorphisms in Saudi Arabia population. This study provides valuable information on Saudi genetic background in comparison with other populations. In addition, it serves as a template for future clinical research involving cardiovascular and cerebrovascular diseases.Key words: FXIII gene V34L, fibrinogen β-gene -455G/A, polymorphisms, Saudi Arabia

    Association between polymorphisms of SLC6A3 and DRD1 genes and autism among Saudi Arabia Taif population using PCR-restriction fragment length polymorphism (PCR- RFLP)

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    The prevalence of autism in Saudi Arabia is 18 per 10,000, higher than the 13 per 10,000 reported in developed  countries. The etiology of autism is still not completely understood. Different studies support the involvement  of dopaminergic neurotransmitter system in the etiology of autism. Several lines of evidences suggest the role of some dopamine related genes, such as DRD1 and SLC6A3 in the etiology of autism. The aim of the present  work was to study the possible role of rs2550936 A/C polymorphism at SLC6A3 locus as well as rs4532 A/G  polymorphism at DRD1 locus in the etiology of autism among Saudi population. The polymorphisms of DRD1  and LC6A3 were genotyped in the case-control study using polymerase chain reaction-restriction fragment  length polymorphism (PCR-RFLP) technique. Significant association as risk factor was found between autism  and GA genotype of DRD1 [OR = 3.5 CI (1.04, 12.41*)] as well as CA genotype of SLC6A3 [OR = 2.53 CI  (1.03, 6.26*)], while CC genotype of SLC6A3 revealed protective effect. In conclusion, possible risk  genotypes  for autism in the DRD1 and SLC6A3 genes were observed. This is the first report in Saudi Arabia  population and Arab world. Therefore further investigations of these markers and other SNPs of SLC6A3 and  DRD1 genes are considered in large replication samples with other causal factors to enable positive  identification of risk genotypes and generalize obtained results.Key words: Etiology, polymorphism, autism, genotype

    Biological activities of Pereskia bleo extracts

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    The aim of this study is to screen the hexane, dicholoromethane, ethyl acetate and methanol extracts of Pereskia bleo (PB) for their antibacterial, anti-oxidant and anti-cancer properties using disc diffusion method, DPPH assay and MTT cytotoxicity test, respectively. It is found that hexane and methanol extracts showed highly and moderately, respectively, considerable antibacterial activity towards two Gram-negative bacteria, P. aeruginosa 60690 and S. choleraesuis. Ethyl acetate extract showed a week narrow spectrum activity (= 35% of streptomycin activity). The highest antibacterial activity on MRSA is obtained by DCM extract. Hexane extract was the most effective DPPH radical scavenger (37.55%). Ethyl acetate and DCM extracts were less effective free radical scavenger (16.1%). None of the extracts were cytotoxic significantly towards MCF-7, HT-29 and CEM-SS cell lines after 72 h incubation time (IC50 > 30 μg mL-1). It could be concluded that antibacterial activity of P. bleo is the most promising biological activity attributed to this plant

    Body Composition Changes after Weight-Loss Interventions among Obese Females: A Comparison of Three Protocols

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    AIM: To evaluate body composition changes after use of three different types of obesity management protocols: dietary measures and physical activity; acupuncture or laser acupuncture with healthy diet; aiming at achieving stable weight loss among obese Egyptian females.METHODS:  A randomized longitudinal prospective study included 76 obese adult females; aged 26 up to 55 years. Anthropometric, body composition, ultrasonographic and biochemical assessments were done.RESULTS: The three types of obesity management protocols showed significant improvement in body composition (decrease in fat% and increases in FFM and TBW) and visceral fat by US. However, nutritional intervention showed highly significant improvement in the skin fold thickness at triceps and biceps sites and peripheral adiposity index.  Acupuncture intervention showed highly significant improvement in fasting blood glucose (decreased) and lipid profile (decreased triglycerides, total cholesterol and LDL, and increased HDL). Laser intervention showed highly significant improvement in all the skin fold thickness and some parameters of lipid profile (decreased total cholesterol and LDL). CONCLUSIONS: The three obesity management protocols have significant effect on body composition, but acupuncture has the best effect in improving the lipid profile and fasting blood sugar. In addition, Laser intervention was recommended to improve skin fold thickness and subcutaneous fat

    Impact of opioid-free analgesia on pain severity and patient satisfaction after discharge from surgery: multispecialty, prospective cohort study in 25 countries

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    Background: Balancing opioid stewardship and the need for adequate analgesia following discharge after surgery is challenging. This study aimed to compare the outcomes for patients discharged with opioid versus opioid-free analgesia after common surgical procedures.Methods: This international, multicentre, prospective cohort study collected data from patients undergoing common acute and elective general surgical, urological, gynaecological, and orthopaedic procedures. The primary outcomes were patient-reported time in severe pain measured on a numerical analogue scale from 0 to 100% and patient-reported satisfaction with pain relief during the first week following discharge. Data were collected by in-hospital chart review and patient telephone interview 1 week after discharge.Results: The study recruited 4273 patients from 144 centres in 25 countries; 1311 patients (30.7%) were prescribed opioid analgesia at discharge. Patients reported being in severe pain for 10 (i.q.r. 1-30)% of the first week after discharge and rated satisfaction with analgesia as 90 (i.q.r. 80-100) of 100. After adjustment for confounders, opioid analgesia on discharge was independently associated with increased pain severity (risk ratio 1.52, 95% c.i. 1.31 to 1.76; P < 0.001) and re-presentation to healthcare providers owing to side-effects of medication (OR 2.38, 95% c.i. 1.36 to 4.17; P = 0.004), but not with satisfaction with analgesia (beta coefficient 0.92, 95% c.i. -1.52 to 3.36; P = 0.468) compared with opioid-free analgesia. Although opioid prescribing varied greatly between high-income and low- and middle-income countries, patient-reported outcomes did not.Conclusion: Opioid analgesia prescription on surgical discharge is associated with a higher risk of re-presentation owing to side-effects of medication and increased patient-reported pain, but not with changes in patient-reported satisfaction. Opioid-free discharge analgesia should be adopted routinely

    Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)

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    The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance

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    INTRODUCTION Investment in Africa over the past year with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing has led to a massive increase in the number of sequences, which, to date, exceeds 100,000 sequences generated to track the pandemic on the continent. These sequences have profoundly affected how public health officials in Africa have navigated the COVID-19 pandemic. RATIONALE We demonstrate how the first 100,000 SARS-CoV-2 sequences from Africa have helped monitor the epidemic on the continent, how genomic surveillance expanded over the course of the pandemic, and how we adapted our sequencing methods to deal with an evolving virus. Finally, we also examine how viral lineages have spread across the continent in a phylogeographic framework to gain insights into the underlying temporal and spatial transmission dynamics for several variants of concern (VOCs). RESULTS Our results indicate that the number of countries in Africa that can sequence the virus within their own borders is growing and that this is coupled with a shorter turnaround time from the time of sampling to sequence submission. Ongoing evolution necessitated the continual updating of primer sets, and, as a result, eight primer sets were designed in tandem with viral evolution and used to ensure effective sequencing of the virus. The pandemic unfolded through multiple waves of infection that were each driven by distinct genetic lineages, with B.1-like ancestral strains associated with the first pandemic wave of infections in 2020. Successive waves on the continent were fueled by different VOCs, with Alpha and Beta cocirculating in distinct spatial patterns during the second wave and Delta and Omicron affecting the whole continent during the third and fourth waves, respectively. Phylogeographic reconstruction points toward distinct differences in viral importation and exportation patterns associated with the Alpha, Beta, Delta, and Omicron variants and subvariants, when considering both Africa versus the rest of the world and viral dissemination within the continent. Our epidemiological and phylogenetic inferences therefore underscore the heterogeneous nature of the pandemic on the continent and highlight key insights and challenges, for instance, recognizing the limitations of low testing proportions. We also highlight the early warning capacity that genomic surveillance in Africa has had for the rest of the world with the detection of new lineages and variants, the most recent being the characterization of various Omicron subvariants. CONCLUSION Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve. This is important not only to help combat SARS-CoV-2 on the continent but also because it can be used as a platform to help address the many emerging and reemerging infectious disease threats in Africa. In particular, capacity building for local sequencing within countries or within the continent should be prioritized because this is generally associated with shorter turnaround times, providing the most benefit to local public health authorities tasked with pandemic response and mitigation and allowing for the fastest reaction to localized outbreaks. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century

    Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

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    Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

    Synthesis and biological activity of novel series of 4-methoxy, and 4,9-dimethoxy-5-substituted furo[2,3-g]-1,2,3-benzoxathiazine-7,7-dioxide derivatives

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    A novel series of 4-methoxy, and 4,9-dimethoxy-5-substituted furo[2,3-g]-1,2,3-benzoxathiazine-7,7-dioxide derivatives 3a,b, 10a–g and 11a–g were prepared in good yields via the reaction of 4-methoxy (1a) and 4,7-dimethoxy-5-acetyl-6-hydroxybenzofurans (1b) and their α,β-unsaturated keto derivatives 6a–g and 7a–g with chlorosulfonyl isocyanate (CSI). On the other hand, N-chlorosulfonyl carbamate derivatives 4a,b, 12a,b and 13a,b were prepared and allowed to react with piperidine to give the corresponding N-piperidinosulfonyl carbamate derivatives 5a,b, 14a,b and 15a,b, respectively. Sixteen new target compounds 3a,b, 10a–g, and 11a–g were tested for their DPPH radical-scavenging, and in vitro antiproliferative activity against A-549, MCF7 and HCT-116 cancer cell lines. Compounds 10a, 11c, 11e, and 11g showed moderate DPPH radical-scavenging activity compared to ascorbic acid at 100 μg/mL. 4,9-Dimethoxy-5-substituted styrylfuro[3,2-g]-1,2,3-benzoxathiazine-7,7-dioxides 11a, 11b, and 11c were found to be highly active against A-549 and HCT-116 cancer cell lines with IC50 values ranging from 0.02 to 0.08 μmol/mL compared to doxorubicin with IC50 = 0.04 and 0.06 μmol/mL, respectively
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