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Patients carrying two loss-of-function (or hypomorphic) alleles of STAT1 are vulnerable to intracellular bacterial and viral diseases. Heterozygosity for loss-of-function dominant-negative mutations in STAT1 is responsible for autosomal dominant (AD) Mendelian susceptibility to mycobacterial disease (MSMD), whereas heterozygosity for gain-of-function loss-of-dephosphorylation mutations causes AD chronic mucocutaneous candidiasis (CMC). The two previously reported types of AD MSMD-causing STAT1 mutations are located in the tail domain (p.L706S) or in the DNA-binding domain (p.E320Q and p.Q463H), whereas the AD CMC-causing mutations are located in the coiled-coil domain. We identified two cases with AD-STAT1 deficiency in two unrelated patients from Japan and Saudi Arabia carrying heterozygous missense mutations affecting the SH2 domain (p.K637E and p.K673R). p.K673R is a hypomorphic mutation that impairs STAT1 tyrosine phosphorylation, whereas the p.K637E mutation is null and affects both STAT1 phosphorylation and DNA-binding activity. Both alleles are dominant-negative and result in impaired STAT1-mediated cellular responses to IFN-γ and IL-27. By contrast, STAT1-mediated cellular responses against IFN-α and IFN-λ1 were preserved at normal levels in patients’ cells. We describe here the first dominant mutations in the SH2 domain of STAT1, revealing the importance of this domain for tyrosine phosphorylation and DNA-binding, as well as for anti-mycobacterial immunity.
The Saudi Banking industry is an important component of Saudi Arabia Economy. In the view of the high volume of business activities, Saudi Banks are keen to encourage employee participation and employee engagement. These behaviours will help banks in managing their business activities and business development. This paper provides a stimulating opportunity to advance the knowledge of the link between organizational culture, and employee engagement, at Saudi banks. This research paper will investigate the organizational culture enablers and inhibitors of employee engagement in Saudi Arabia Banks. This research is a qualitative approach; the method used is a grounded theory. Data collection adopted an issue focus approach. Interviews were conducted with Bank line managers, and subordinates. The results revealed that the enabler factors that contribute most to employee engagement enablers were training and development, organizational communication, reward, and recognition. Results revealed that Islamic culture has an influence on employee engagement in Saudi banks. This influence shown was in Noninterest bearing transactions, and the female segregation rule.
Background/Aim:Morbidly obese patients have a high prevalence of fatty liver disease and its serious complications, and high prevalence of abnormal liver function tests (LFT). The LFT can give a clue to the liver damage and correlate with activity. We aim to study the pattern of LFT in morbidly obese Saudi patients undergoing bariatric surgery in Eastern region.Patients and Methods:Medical records of patients undergoing bariatric surgery were reviewed. Demographic data, comorbid conditions, and medications taken were recorded. Intraoperative liver appearance was noted. Patients with alcohol intake or without LFT were excluded.Results:Out of 113 patients, 15 patients were excluded, and of the remaining 98 patients analyzed, 58.2% were females. Mean age was 33.1 ± 8.87 years. Mean body mass index (BMI) was 53.7 ± 1.27 kg/m2. Abnormal LFT (alanine aminotransaminase (ALT), aspartate aminotransaminase (AST) alkaline phosphatase (ALK), and Gamma glutamyl transpeptidase (GTT) were observed in 17.3%, with 1.5 to 2 times the upper limit of normal. ALT was most elevated in 12.2%. Abdominal ultrasonography was done in 67 (68.4%) patients, of whom 51 (76%) had fatty liver. Comorbid conditions including diabetes mellitus, hypertension, hyperlipidemia, bronchial asthma, and obstructive sleep apnea were observed in 51 (51.50%) patients, eight of them (16.3%) had abnormal LFT. No intraoperative changes of cirrhosis were observed.Conclusion:The prevalence of abnormal LFT is low in morbidly obese patients from the eastern region of Saudi Arabia. A prospective study with a larger sample and liver biopsy, is needed to clarify the findings.
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