Autoimmune Regulator Gene Polymorphisms in Egyptian Systemic Lupus Erythematosus Patients: Preliminary Results.

BACKGROUND: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease. The autoimmune regulator (AIRE) is a master regulator of self-tolerance development. AIRE mutations lead to the development of autoimmune polyglandular syndrome type 1 while AIRE polymorphisms have been linked to organ-specific autoimmunity. The study is aimed at addressing the association between AIRE polymorphisms, rs2075876 (G > A) and rs760426 (A > G), and SLE susceptibility and expression in Egyptian patients. METHODS: Ninety-nine patients were included. One hundred and ten, and 123 control subjects were genotyped for rs2075876 and rs760426, respectively. Lupus severity was assessed using the Lupus Severity of Disease Index and Lupus Severity Index (LSI). Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) damage index was considered. Genotyping was done using StepOne Real-Time PCR. Results. AIRE rs760426 GG was more frequent in the patients under the genotype level (14.1% vs. 4.9%, p = 0.032) and recessive model (14.1% vs. 4.9%, p = 0.017, OR = 3.2 (1.2-8.7)). Musculoskeletal involvement and nephritis were associated with AIRE rs2075876 under the dominant (97.9% vs. 80.8%, p = 0.009, OR = 11 (1.3-89.2)) and recessive models (100% vs. 69.3%, p = 0.032), respectively; and both were linked to AIRE rs2075876 at the allelic level: 98.3% vs. 85%, p = 0.005, OR = 10.1 (1.3-76.6) and 82.8% vs. 68.6, p = 0.041, OR = 2.2 (1-4.7), respectively. Patients with AIRE rs2075876 A alleles had a higher damage index ( 1 ± 1.3 vs. 0.6 ± 1.1, p = 0.045) while the LSI was greater in patients with AIRE rs2075876 (8.5 ± 0.5 vs. 7.8 ± 1.3, p = 0.002) and rs760426 (8.6 ± 11 vs. 7.8 ± 1.2, p = 0.031) under the recessive models. Conclusion. AIRE rs760426 could share in SLE susceptibility while AIRE rs2075876 could influence the disease expression and burden in Egyptian patients.

Superiority of rectal snip over serology in detection of schistosomiasis eradication: A pilot study.

BACKGROUND AND STUDY AIMS: The diagnosis of schistosomiasis is based on serological determination of anti-schistosoma antibody and schistosoma antigen in serum and urine but the gold standard test is the microscopic detection of schistosoma eggs in urine and stool. However, there is an urgent demand to reach the elimination goal with higher sensitivity and specificity tools. This study aimed to evaluate the sensitivity and specificity of anti-schistosoma antibody and schistosoma antigen in comparaison with rectal snip in the detection and prediction of eradication of schistosomiasis in previously and/or incidentaly diagnosed patients. PATIENTS AND METHODS: Sixty patients were divided into 48 patients with ultrasound evidence of periportal fibrosis and non-calcified Schistosoma eggs detected microscopically in rectal snip biopsy and 12 control subjects with ultrasound evidence of periportal fibrosis only. RESULTS: Rectal snip was more sensitive than standard serological tests in the investigation for detection and eradication of schistosomiasis infection with 100% sensitivity when compared to the sensitivity of Schistosoma antigen (45.8%) and that of Schistosoma antibody (31.2%). CONCLUSION: Patients presenting to tropical medicine clinics with periportal fibrosis and/or abdominal symptoms with history of close proximity to fresh water bodies should be assessed by serology for schistosomiasis infection especially in highly endemic area. Rectal snip sampling should be done for negative or relapsed cases to exclude infection and confirm schistosomiasis clearance.

Outcomes of patients with Severe Acute Respiratory Infections (SARI) admitted to the intensive care unit: results from the Egyptian Surveillance Study 2010-2014.

BACKGROUND: Few data exist about respiratory viral infections in Egyptian patients. Hereby we describe the outcomes of hospitalized Egyptian patients with severe acute respiratory infections (SARI) admitted to the ICU. METHODS: A prospective study in which all hospitalized patients meeting the WHO case definition for SARI and admitted to the ICU, during the period 2010-2014, were enrolled. Samples were tested using RT-PCR for influenza A, B, respiratory syncytial virus (RSV), human metapneumovirus (hMPV), parainfluenza virus, adenovirus, bocavirus, enterovirus, and rhinovirus. Data were analyzed to study the clinical features of SARI-ICU patients and which pathogens are related to severe outcomes. Associated comorbidities were evaluated using Charlson Age-Comorbidity Index (CACI). RESULTS: Out of 1,075 patients with SARI, 219 (20.3%) were admitted to the ICU. The highest rates were reported for RSV (37%). SARI-ICU patients had higher rates of hospital stay, pneumonia, respiratory failure, ARDS, and mortality. Multivariate logistic regression analysis identified associated respiratory disorders (p=0.001), radiological abnormalities (p=0.023), and longer hospital stay (p=0.005) as risk factors for severe outcomes. CONCLUSIONS: This surveillance study showed that 20% of hospitalized Egyptian patients with viral SARI needed ICU admission. SARI-ICU patients had higher rates of hospital stay, pneumonia, respiratory failure, ARDS, and mortality. Higher comorbidity index scores, radiological abnormalities, and longer hospital stay are risk factors for severe outcomes in SARI-ICU patients in our locality.

Tumor necrosis factor gene expression in regular hemodialysis patients.

This study evaluates tumor necrosis factor (TNF)-alfa gene expression in patients with end-stage renal disease (ESRD) on regular hemodialysis as an expression of cardiovascular disease (CVD) risk even on a sub-clinical level and its relation to some of the parameters incriminated in the pathogenesis and the establishment of uremic arteriopathy. A total of 51 patients with ESRD on regular hemodialysis and 20 healthy subjects matching in age and gender as a control group were recruited. All selected cases were subjected to serum lipid profile, Creactive protein (CRP), TNF-alfa gene expression and Doppler study of carotid arteries to estimate carotid intimal media thickness (cIMT). Serum triglycerides (TGS) level (P <0.001), CRP positivity (P = 0.002), relative quantification (RQ) of TNF-alfa gene expression (P = 0.007) and cIMT (P = 0.02) were significantly higher while high-density lipoprotein (HDL) level (P <0.001) was significantly lower among cases compared with controls. RQ showed a significant positive correlation with CRP titer (rho = 0.583, P = 0.011). Results also showed a significant strong negative correlation between with CRP titer and cIMT (rho = -0.590, P = 0.010). CRP titer showed only a significant strong negative correlation with age (rho = -0.589, P = 0.01) and positive correlation with HDL (rho = 0.51, P = 0.031). Patients with ESRD have increased gene expression of TNF-alfa and CRP titer together with increased atherosclerosis as expressed by increased cIMT.

Intrafamilial transmission of hepatitis C infection in Egyptian multitransfused thalassemia patients.

OBJECTIVE: Detecting the current prevalence of hepatitis C virus (HCV) among Egyptian multitransfused thalassemic patients and evaluating the risk of its transmission within their family members. METHODS: Multitransfused Egyptian thalassemia patients (n = 137) were tested for HCV infection. Household contacts of positive members were compared with household contacts of HCV-negative patients. Antibodies to HCV were detected by enzyme immunoassay. Antibody-positive cases were retested for viral load using reverse transcriptase polymerase chain reaction. HCV genotyping was performed on positive samples of the patients and the positive household contacts. RESULTS: In all, 34.4% of patients (n = 47) were positive for HCV antibodies and RNA. The study of 24 families of HCV-positive patients showed 14 affected family members (19.2%). In 27 families of HCV-negative patients, four family members were affected (4.9%). HCV genotyping of seven families was similar in both patients and their family members. CONCLUSION: Our results support the role of intrafamilial transmission in the spread of HCV.

Noninvasive assessment of hepatic fibrosis and necroinflammatory activity in Egyptian children with chronic hepatitis C virus infection using FibroTest and ActiTest.

BACKGROUND: Hepatitis C virus (HCV) is a major cause of chronic hepatitis and hepatic fibrosis. Liver biopsy, because of its limitations and risks, might be considered an imperfect gold standard for assessing the severity of chronic liver diseases. In this study, we aimed to prospectively validate FibroTest (FT) and ActiTest (AT) as noninvasive serum biochemical markers for assessment of the degree of hepatic fibrosis and necroinflammatory activity respectively, in pediatric patients with chronic HCV infection and compare them to liver biopsy. METHODS: Fifty patients, aged 2 to 18 years, with chronic HCV infection were prospectively enrolled. Two assessments were carried out, within 24-h duration, one of a liver biopsy specimen and the other FT and AT measured in serum sample. FINDINGS: A highly significant linear trend and correlation were found between FT-related fibrosis and fibrosis stage by METAVIR scoring on histopathological examination. A highly significant correlation was also found between AT and necroinflammatory histological activity using METAVIR as well. The FT area under the receiver operating characteristic curve (AUROC) is 0.97, SE=0.02 which can diagnose patients with mild stage of fibrosis, thus discriminating them from those with no (or minimal) fibrosis. The AT can successfully discriminate between patients with moderate activity and those with mild activity with AUROC=0.93, SE=0.06. CONCLUSION: FT and AT are potential noninvasive methods for assessment of hepatic fibrosis and necroinflammatory activity in pediatric patients with chronic HCV infection in comparison with liver biopsy.