Sanai F.M.,King Abdulaziz Medical City |
Babatin M.A.,King Saud University |
Bzeizi K.I.,King Fahad General Hospital |
AlSohaibani F.,King Faisal Specialist Hospital And Research Center |
And 14 more authors.
Clinical Gastroenterology and Hepatology | Year: 2013
Background & Aims: Differing threshold levels of hepatitis B virus (HBV) DNA and alanine aminotransferase (ALT) are recommended by international guidelines for commencement of antiviral therapy. These guidelines advocate therapy for patients with significant fibrosis (METAVIR score ≥F2); we assessed the accuracy of these guideline-defined thresholds in identifying patients with ≥F2 fibrosis. Methods: We applied the European (European Association for the Study of the Liver [EASL] 2012), Asian-Pacific (Asian-Pacific Association for the Study of the Liver [APASL] 2012), American (American Association for the Study of Liver Diseases [AASLD] 2009), and United States Panel Algorithm (USPA 2008) criteria to 366 consecutive hepatitis B e antigen-negative patients with liver biopsy samples: EASL, ALT >laboratory-defined upper limit of normal (ULN) and HBV DNA ≥2000 IU/mL (n= 171); APASL, ALT >2-fold laboratory-defined ULN and HBV DNA ≥2000 IU/mL (n= 87); AASLD, ALT >2-fold the updated ULN (0.5-fold ULN [corresponding to ≤19 U/L] for women and 0.75-fold the ULN [corresponding to ≤30 U/L] for men) and HBV DNA ≥20,000 IU/mL (n= 53); and USPA, ALT >updated ULN (>0.5-fold ULN for women and >0.75-fold ULN for men) and HBV DNA ≥2000 IU/mL (n= 173). Results: Overall, 113 patients (30.9%) had ≥F2 fibrosis, which was more frequent among patients whofulfilled any guideline criteria (45.7% vs 17.9% for those who did not fulfill any criteria, P<.0001). In applying the EASL, AASLD, APASL, and USPA criteria, sensitivity and specificity values for detection of ≥F2 fibrosis were 45.6%, 58.5%, 56.3%, and 45.7% (P=.145) and82.1%, 73.8%, 77.1%, and 82.4% (P=.366), respectively. The EASL criteria (area under thereceiver operating characteristic [AUROC] curve, 0.66; 95% confidence interval [CI], 0.61-0.71) and USPA criteria (AUROC, 0.66; 95% CI, 0.58-0.73) performed better than APASL (AUROC, 0.64; 95% CI, 0.59-0.69; P=.421) and significantly better than the AASLD criteria (AUROC, 0.59; 95% CI, 0.54-0.64; P=.013). Conclusions: In hepatitis B e antigen-negative patients with chronic hepatitis, the EASL, AASLD, APASL, and USPA criteria identify patients with ≥F2 fibrosis with low levels of accuracy. However, the EASL and USPA criteria are the most accurate for identification of these patients. © 2013 AGA Institute. Source
Aldahmesh M.A.,King Faisal Specialist Hospital And Research Center |
Li Y.,Yale University |
Alhashem A.,Deparment of Pediatrics |
Alhashem A.,Alfaisal University |
And 14 more authors.
Human Molecular Genetics | Year: 2014
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBSgenes havebeen identified andthe majorityofthem are essential for the function ofBBSome, a protein complex involved in transporting membrane proteins into and from cilia. Yet defects in the identified genes cannot account for all the BBS cases. The genetic heterogeneity of this disease poses significant challenge to the identification of additional BBS genes. In this study, we coupled human genetics with functional validation in zebrafishandidentifiedIFT27 as a novelBBSgene(BBS19). This is the first time anintraflagellar transport (IFT)geneis implicated in the pathogenesis of BBS, highlighting the genetic complexity of this disease. © The Author 2014. Published by Oxford University Press. All rights reserved. Source
Al-Owain M.,King Faisal Specialist Hospital And Research Center |
Al-Owain M.,Alfaisal University |
Wakil S.,King Faisal Specialist Hospital And Research Center |
Shareef F.,Maternity and Children Hospital |
And 9 more authors.
Clinical Genetics | Year: 2011
Desmoplakin is an important cytoskeletal linker for the function of the desmosomes. Linking desmoplakin to certain types of cardiocutaneous syndromes has been a hot topic recently. Skin fragility-woolly hair syndrome is a rare autosomal recessive disorder involving the desmosomes and is caused by mutation in the desmoplakin gene (DSP). We report five members from a large family with skin fragility-woolly hair syndrome. The index is a 14-year-old girl with palmoplantar keratoderma, woolly hair, variable alopecia, dystrophic nails, and excessive blistering to trivial mechanical trauma. No cardiac symptoms were reported. Although formal cardiac examination was not feasible, the echocardiographic evaluation of the other two affected younger siblings was normal. Homozygosity mapping and linkage analysis revealed a high LOD score region in the short arm of chromosome 6 that harbors the DSP. Full sequencing of the DSP showed a novel homozygous c.7097 G>A (p.R2366H) mutation in all affected members, and the parents were heterozygous. This is the report of the third case/family of the skin fragility-woolly hair syndrome in the literature. We also present a clinical and molecular review of various desmoplakin-related phenotypes, with emphasis on onset of cardiomyopathy. The complexity of the desmoplakin and its variable presentations warrant introducing the term 'desmoplakinopathies' to describe all the phenotypes related to defects in the desmoplakin. © 2010 John Wiley & Sons A/S. Source
AlHabib K.F.,King Saud University |
Elasfar A.A.,Prince Salman Heart Center |
Elasfar A.A.,Tanta University |
AlFaleh H.,King Saud University |
And 19 more authors.
European Journal of Heart Failure | Year: 2014
Aims The HEart function Assessment Registry Trial in Saudi Arabia (HEARTS) is a national multicentre project, studying clinical features, management, short- and long-term outcomes, and mortality predictors in patients admitted with acute decompensated heart failure (ADHF). Methods and results Our prospective registry enrolled 2610 ADHF patients admitted to 18 hospitals in Saudi Arabia between October 2009 and December 2010, and followed mortality rates until January 2013. The patients included 66% men and 85.5% Saudis, with a median age (interquartile range) of 61.4 (15) years; 64% had acute on chronic heart failure (HF), 64.1% diabetes mellitus, 70.6% hypertension, and 55.7% CAD. Exacerbating factors for hospital admission included acute coronary syndromes (37.8%), infections (20.6%), non-compliance with low-salt diet (25.2%), and non-compliance with HF medications (20%). An LVEF <40% was found in 73%. In-hospital use of evidence-based medications was high. All-cause cumulative mortality rates at 30 days, 6 months, 1 year, 2 years, and 3 years were 8.3, 13.7, 19.5, 23.5, and 24.3%, respectively. Important independent predictors of mortality were history of stroke, acute on chronic HF, systolic blood pressure <90 mmHg upon presentation, estimated glomerular filtration rate <60 mL/min, and haemoglobin <10 g/dL. Conclusion Patients with ADHF in Saudi Arabia presented at a younger age and had higher rates of CAD risk factors compared with those in developed countries. Most patients had reduced LV systolic function, mostly due to ischaemic aetiology, and had poor long-term prognosis. These findings indicate a need for nationwide primary prevention and HF disease management programmes. © 2014 The Authors. Source
Haseeb A.,University of Umm Al - Qura |
Haseeb A.,Universiti Sains Malaysia |
Faidah H.S.,University of Umm Al - Qura |
Bakhsh A.R.,King Fahad General Hospital |
And 7 more authors.
International Journal of Infectious Diseases | Year: 2016
Objective To identify commonly reported community-acquired organisms and antimicrobial resistance patterns exhibited by Gram-positive and Gram-negative pathogens among pilgrims visiting emergency care departments in Makkah. Method The study was designed as a retrospective audit of all patients (pilgrims) admitted to two hospitals and residing in the city of Makkah, Saudi Arabia. Results Among 374 isolates, Gram-negative pathogens accounted for 280 (75%), while the remaining 94 (25%) were Gram-positive organisms. Among all isolated pathogens, the highest resistance was observed for amoxicillin-clavulanic acid. Klebsiella pneumoniae had the highest resistance to amoxicillin-clavulanic acid and ampicillin. Most of the organisms were sensitive to tobramycin except Acinetobacter baumannii (n = 3, 50%), Escherichia coli (n = 4, 57%), and K. pneumoniae (n = 6, 46%). Conclusion Overall, a high resistance was observed for beta-lactam antibiotics. In addition, a high resistance was noted for ceftazidime with A. baumannii species (n = 16, 77%). However, for quinolones, the highest resistance to ciprofloxacin was observed for E. coli, A. baumannii, methicillin-resistant Staphylococcus aureus, and K. pneumoniae. © 2016 The Author(s) Source