RESUMEN
Von Willebrand factor (VWF) is a plasma glycoprotein that plays a key role in hemostasis. Mutations in this protein can result in von Willebrand disease (VWD), the most common form of bleeding disorder in humans. Patients with type 1 VWD have a quantitative plasmatic deficiency of normal structural and functional VWF. Our study aimed to investigate the phenotypic and genotypic characteristics of VWD type 1 patients in eastern Saudi Arabia, focusing on exon 28. We included patients previously diagnosed with WWD type 1 at the King Fahad teaching hospital in Al Khobar and their family members. The correlations between various phenotypic data and genotypic (exon 28) were analyzed using statistical software (SPSS) version 21. While these variants were generally considered benign with minor clinical effects, our analysis did identify two pathogenic variants that could lead to severe VWD symptoms. Specifically, we found these two pathogenic variants in three VWD patients from Saudi Arabia, providing essential insights into pathogenic VWD mutations in this population. Our study, therefore, sheds light on the prevalence of VWF variants in the eastern province of the Kingdom and highlights the need for continued research into the genetic causes of VWD in this region.
Asunto(s)
Enfermedades de von Willebrand , Factor de von Willebrand , Humanos , Factor de von Willebrand/genética , Factor de von Willebrand/metabolismo , Enfermedades de von Willebrand/genética , Enfermedades de von Willebrand/diagnóstico , Arabia Saudita/epidemiología , Genotipo , Mutación/genéticaRESUMEN
Thrombophilia, where multiple genetic and acquired risk factors interact synergistically, are associated with thrombosis and pregnancy-related complications. Despite being studied profusely, an inconsistent association exists between thrombophilia and pregnancy complications. Between 2018 and 2020, ninety-three women with pregnancy complications were enrolled in the study. Twenty-five healthy pregnant women without pregnancy complications reported to the same hospital were also recruited as controls. Blood samples were tested for homocysteine, coagulation studies, and molecular diagnosis included FVL, PTH and MTHFR genes amplified using PCR strip assay (Vienna Lab Diagnostics, Austria). Other thrombophilia screening, including testing for AT, PC, and LA, were done by chromogenic assays (Dade Diagnostica, Munich, Germany). Homocysteine level was determined by fluorescence polarization immunoassay technology (Axsym, Abbot company, Germany). Overall, 29.03% of women with pregnancy complications had thrombophilia relative to 16% in the control group. However, the difference between the case and control groups did not reach a significant level (p=0.1175). Additionally, combined thrombophilia was more prevalent among cases (10.75%) than in the control group (4%). However, the difference did not reach statistical significance (p=0.1046). Our study demonstrated that the frequency of thrombophilia among healthy women was 16%, and among women with pregnancy-related complications, 29%. Relative to control, all measured thrombophilia markers were more frequent in women with pregnancy-related complications except for LA. Including all the studies on the Saudi population in a meta-analysis study could reveal more information about thrombophilia and pregnancy-related complications in our population.
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Complicaciones del Embarazo , Trombofilia , Femenino , Embarazo , Humanos , Trombofilia/complicaciones , Trombofilia/epidemiología , Factores de Riesgo , Tamizaje Masivo/efectos adversos , HomocisteínaRESUMEN
INTRODUCTION: Bloodstream infections (BSI) among patients with hematological malignancies (HM) could predispose them to higher morbidity and mortality for various underlying conditions. Several microorganisms, either pathogenic or opportunistic normal human flora, could cause severe bacteremia and septicemia. While conventional methods have their own limitations, molecular methods such as next-generation sequencing (NGS) can detect these blood infections with more reliability, specificity, and sensitivity, in addition to information on microbial population landscape. Methodology. Blood samples from HM patients (n = 50) and volunteer blood donor control individuals with no HM (n = 50) were subjected to 16S rRNA gene amplification using standard PCR protocols. A metagenomic library was prepared, and NGS was run on a MiSeq (Illumina) sequencer. Sequence reads were analyzed using MiSeq Reporter, and microbial taxa were aligned using the Green Genes library. RESULTS: 82% of the patients showed BSI with Gram-negative bacteria as the most predominant group. E. coli comprised a major chunk of the bacterial population (19.51%), followed by K. pneumoniae (17.07%). The CoNS and Viridans Streptococci groups are 17.07% and 14.63%, respectively. Other major species were S. aureus (9.75%), P. aeruginosa (7.31%), A. baumannii (4.87%), E. cloacae (4.87%), and P. mirabilis (4.87%). 34.14% of the cases among patients showed a Gram-positive infection, while 14.63% showed polymicrobial infections. CONCLUSION: Most of the BSI in patients were characterized by polymicrobial infections, unlike the control samples. Molecular methods like NGS showed robust, fast, and specific identification of infectious agents in BSI in HM, indicating the possibility of its application in routine follow-up of such patients for infections.
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Bacteriemia , Neoplasias Hematológicas/complicaciones , Técnicas de Diagnóstico Molecular/métodos , Análisis de Secuencia de ADN/métodos , Adolescente , Adulto , Anciano , Bacteriemia/complicaciones , Bacteriemia/diagnóstico , Bacteriemia/epidemiología , Bacteriemia/microbiología , Bacterias/clasificación , Bacterias/genética , Coinfección/complicaciones , Coinfección/diagnóstico , Coinfección/epidemiología , Coinfección/microbiología , ADN Bacteriano/análisis , ADN Bacteriano/genética , Femenino , Humanos , Masculino , Metagenoma/genética , Metagenómica/métodos , Microbiota/genética , Persona de Mediana Edad , Arabia Saudita , Adulto JovenRESUMEN
BACKGROUND: Transfusion-transmissible hepatitis B virus (HBV) infection is a major problem worldwide. Recently, confirmatory nucleic acid tests (NATs) for HBV DNA have been employed in several countries. We assessed the prevalence and yearly trends of HBV infection in blood donors in the Eastern Province of Saudi Arabia, screening for HBV surface antigen (HBsAg), antibody against HBV core antigen (anti-HBc), and HBV DNA. METHODS: Between 2011 and 2015, a total of 22,842 donors were screenedfor HBsAg, anti-HBc, and HBV DNA using the HBsAg Qualitative II kit (Abbott, Ireland Diagnostics Division, Sligo, Ireland), ARCHITECT Anti-hepatitis B core antigen antibody (HBc) II Assay kit (Abbott GmbH & Co. KG, Wiesbaden, Germany), and NAT Procleix Ultrio Elite Assay kit (Grifols Diagnostic Solutions Inc., Los Angeles, CA, USA), respectively. RESULTS: A total of 739 (3.24%) donors were HbsAg(+), anti-HBc(+), or HBV DNA(+); 63 (0.28%) were HbsAg(+), anti-HBc(+), and HBV DNA(+). Twelve (0.05%) were anti-HBc(+) and HBV DNA(+) but HBsAg(-); they were considered to have occult infection. Further, 664 (2.91%) were HBsAg(-) but anti-HBc(+), indicating chronic or resolving infection. HBV prevalence increased significantly from 2011 to 2012, increased marginally till 2013, and showed a decreasing trend from 2013 (P>0.05). CONCLUSIONS: The five-year prevalence of HBV infection among blood donors in the Eastern Province of Saudi Arabia (3.24%) is lower than that reported for other regions in the country. The occult HBV infection rate of 0.05% emphasizes the importance of NATs in isolating potential infectious blood units.
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Biomarcadores/sangre , Virus de la Hepatitis B/metabolismo , Hepatitis B/diagnóstico , Donantes de Sangre , ADN Viral/sangre , Hepatitis B/epidemiología , Hepatitis B/virología , Anticuerpos contra la Hepatitis B/sangre , Antígenos de Superficie de la Hepatitis B/sangre , Virus de la Hepatitis B/genética , Humanos , Prevalencia , Estudios Retrospectivos , Arabia Saudita/epidemiologíaRESUMEN
OBJECTIVE: To examine the effect of smoking on complete blood count, serum C-reactive protein and magnesium levels in male smokers. METHODS: The prospective case-control study was conducted in two villages of Matiari district in rural Sindh, Pakistan, from July to December 2013, and comprised healthy adult male smokers and an equal number of matching non-smokers as controls.The complete blood count, serum C-reactive protein and magnesium levels in all the subjects were measured to assess the effect of smoking on these parameters. RESULTS: The two groups had 48 subjects each with an overall age range of 20-40 years. The results of complete blood count were comparable except for lymphocyte, which was significantly higher (p<0.001), and neutrophil, which was lower (p<0.001) in smokers than in the non-smokers. Serum C-reactive protein concentrations among the cases (14.62±0.16mg/L) compared to the controls (4.81±0.38mg/L) were significantly higher (p<0.001). However, reverse was true for serum magnesium levels which were significantly higher (p<0.001) in the controls (2.52±0.18mg/L) as against the cases (1.09±0.38mg/dl).Serum C-reactive protein-to-magnesium ratio was significantly higher (p<0.001) in smokers than in the non-smokers. CONCLUSION: Lymphocyte count was higher while neutrophil count was lower in smokers. Smoking also caused significant increase in serum C-reactive protein concentration concomitant to decrease in magnesium concentration in the smokers.