BACKGROUND:Anti-N-methyl D-aspartate receptor (anti-NMDAR) encephalitis is a treatable autoimmune disorder increasingly recognized in children. We aimed to evaluate cerebrospinal fluid (CSF) anti-NMDAR antibody levels in pediatric encephalitis, and to assess their diagnostic and prognostic utility in relation to clinical, laboratory, and neuroimaging features METHODS: In this prospective observational study, 85 children with encephalitis admitted to the pediatric intensive care unit were evaluated. Patients were categorized into Group I (n = 37) with anti-NMDAR encephalitis and Group II (n = 48) with non-anti-NMDAR encephalitis. Clinical manifestations, CSF findings, Electroencephalogram (EEG), and CSF anti-NMDAR antibody levels (measured by ELISA) were analyzed. Receiver operating characteristic (ROC) curves assessed diagnostic performance RESULTS: Group I demonstrated significantly higher rates of psychiatric symptoms, seizures, abnormal movements, and speech disturbances than Group II. EEG abnormalities, particularly extreme delta brush, were more common in anti-NMDAR encephalitis. CSF anti-GluN1 antibody levels correlated positively with alanine aminotransferase(ALT), platelet count, and Glasgow Coma Scale score (GCS), and negatively with CSF neutrophils and protein. Antibody levels were significantly elevated in Group I, with ROC analysis showing high sensitivity and specificity for diagnosis CONCLUSION: CSF anti-NMDAR antibody measurement is a robust diagnostic biomarker in pediatric encephalitis. Early detection may facilitate timely immunotherapy and improve outcomes. IMPACT:This study demonstrates that CSF anti-NMDAR antibody testing improves both the diagnosis and prognosis of pediatric encephalitis. Antibody positivity was associated with distinct clinical and neuroimaging features, supporting earlier recognition and initiation of immunotherapy. Incorporating antibody testing into pediatric practice may enhance patient outcomes and advance the management of autoimmune encephalitis in children.
Background: Interleukin (IL)-32 is a multi-functional cytokine. IL-32 was reported in atopic dermatitis and psoriasis. Aim: To investigate the possible role of IL32 in non-segmental vitiligo (NSV) pathogenesis. Subjects and methods: Fifty patients with active NSV, in addition to 40 healthy volunteers, were included in this case-control study. All participants underwent a full medical history and a general and dermatological examination. A complete blood count (CBC), hemoglobin (Hb)A1c, lipid profile, IL-32 serum level by enzyme-linked immunosorbent assay (ELISA), and detection of IL-32 gene expression by polymerase chain reaction (PCR) were done. Results: A significant elevation in serum levels of IL-32 in NSV patients (95.1 +/- 9.3 vs 130.6 +/- 20.3 pg/ml) (P < 0.001) was found. A significant upregulation of gene expression of IL-32 and its isomers alpha and beta in patients (29.5 +/- 27.1; 13.1 +/- 0.88; 7.6 +/- 0.97) than controls (3.1 +/- 0.48; 2.95 +/- 0.31; 2.1 +/- 0.54), respectively (P < 0.001 for all), was detected. A significant positive correlation between IL-32 serum level and vitiligo disease activity score (VIDA) score (r = 0.275; P = 0.05) was detected. Significant positive correlations between IL-32 serum level and IL-32 and its isoforms alpha and beta gene expressions were detected (r = 0.516; r = 0.743; r = 0.698; P < 0.001 for all, respectively). Conclusions: Upregulated IL-32 serum levels as well as IL-32 and its isoforms alpha and beta gene expressions might participate in NSV development and progression through its associated glucose intolerance and dyslipidemia.
Background:Hepatic steatosis, nonalcoholic steatohepatitis (NASH), fibrosis, cirrhosis, and even hepatocellular carcinoma are all possible outcomes of metabolic dysfunction-associated fatty liver disease (MAFLD). Some platelet function measures are strongly correlated with the incidence of insulin resistance's intensity and its associated problems. Platelet indices, including platelet count (PC), mean platelet volume (MPV), platelet distribution width (PDW), plateletcrit (PCT), red cell distribution width (RDW), and red cell distribution width to platelet ratio (RPR), were found to be associated with the presence of many diseases. Hence, this research aimed to evaluate the significance of platelet indices and RDW in MAFLD and their possible association with the degree of liver steatosis and fibrosis.Patients and methods:This study was carried out on 220 patients who attended Tanta Tropical Medicine and fulfilled MAFLD criteria and CBC, including PC, MPV, PDW, PCT, RDW, and RPR, determined in all patients.Results:It was found that the PC was significantly decreased as the steatosis grade increased (p <0.00). There was a significant increase in MPV as the steatosis grade increased (p <0.001). PDW% also substantially increased as the steatosis grade increased (p <0.001). It also found that RDW% showed a significant increase when the steatosis grade increased (p<0.001), while PCT% showed no significant difference in its level about the steatosis grades, p= 0.917.Conclusion: MPV, PDW, RDW, and RPR may be used as non-invasive indicators for liver fibrosis and steatosis in MAFLD.
Background and Aim: This study evaluated the association between rs1396409 and rs9883258 and the risk of schizophrenia (SCZ) and treatment outcomes in Egyptian patients.Methods: This study included 88 patients with SCZ and 88 healthy controls. Lipid profile was assayed. Genotyping of rs1396409 and rs9883258 polymorphisms was analyzed using real-time PCR.Results: The rs1396409 AG genotype frequency was significantly associated with SCZ risk (p = 0.002). Also, significant increased risk of SCZ was observed under allelic (p = 0.001), dominant (p = 0.001) and overdominant (p = 0.001) genetic model of rs1396409. However, rs9883258 AA genotype revealed nonsignificant association with SCZ. Cases with the rs1396409AG genotype exhibited hypertriglyceridemia (p < 0.001) and hypercholesterolemia (p = 0.001). In total, 72.3% and 74.5% of the cases presented with rs1396409 AG have negative symptoms (p = 0.022) and exhibited poor drug response (p = 0.023), respectively; all cases with rs1396409 GG genotype attempted suicide (p = 0.002) and are drug-free (p = 0.003). SCZ patients with negative symptoms had hypercholesterolemia (p = 0.008) mainly low-density lipoproteins (LDLc) (p = 0.016), and those with cognitive symptoms presented with low level of high-density lipoprotein (HDLc) (p = 0.023). Moreover, the multivariate regression analysis revealed that both rs1396409 G allele and HDLc were predictors of SCZ (p = 0.003 and 0.001, resp.).Conclusion: The current study concluded that metabotropic glutamate receptor 7 (GRM7) rs1396409 AG could be a potential biomarker for SCZ diagnosis. It also revealed an independent association between the GRM7 rs1396409 G allele, HDLc and SCZ development.
Background and Aim: Genetic factors play a significant role in the onset and progression of coronary artery disease (CAD). PIK3C2A may contribute to the development of acute coronary syndrome (ACS) by affecting blood glucose levels and oxidative stress. The expression levels of TXNIP were significantly higher in patients with unstable angina pectoris. However, the situation is different in ACS. In the current study, we aim to investigate the role of PIK3C2A and TXNIP as independent risk factors for chronic stable angina (CSA) and ACS. Subjects and Methods: This study involved 215 subjects (60 patients with CSA, 55 patients with ACS, and 100 controls). All subjects were exposed for assaying gene expressions of PIK3C2A and TXNIP by quantitative real-time polymerase chain reaction. Results: It was found that TXNIP was upregulated, whereas PIK3C2A was downregulated in patients with CAD compared to the control group. PIK3C2A was significantly downregulated in patients with ACS compared to that in patients with CSA (p < 0.001), but TXNIP was not (p = 0.7). TXNIP was significantly upregulated in STEMI-ACS patients compared to CSA (p = 0.045) and NSTEMI ACS (p = 0.046), among non-diabetic (p = 0.023) smokers (p = 0.036) with hypertension (p = 0.005) and hypercholesterolemia (p = 0.001). ROC (receiver operating characteristic) curve analysis revealed that PIK3C2A (0.981; p < 0.001; 98.18) was the most sensitive mRNA for discriminating ACS from control, followed by TXNIP (0.775; p < 0.001; 70.91). However, for discriminating ACS from CSA combined mRNAs, (PIK3C2A + TXNIP) (0.893; p < 0.001; 98.18) and PIK3C2A (0.892; p < 0.001; 81.82) are promising biomarkers. On the other hand, the most sensitive mRNA for differentiating CSA from control is mRNAs (PIK3C2A + TXNIP) (0.963; p < 0.001; 95), then TXINP (81.3; p < 0.001; 93.33), and finally, PIK3C2A (0.782; p < 0.001; 81.67). In the multivariate regression model, PIK3C2A ((p = 0.002), 0.118 (0.031–0.445)) and smoking status ((p = 0.034); 0.151 (0.026–0.866)) were independent variables for ACS. Moreover, PIK3C2A ((p < 0.013); 0.706 (0.614–0.812)), Hb ((p = 0.013); 0.525 (0.317–0.871)), and total cholesterol ((p = 0.04); 0.865 (0.784–0.955)) were significantly (p < 0.05) and independently related to the prognosis of CSA. Furthermore, PIK3C2A ((p = 0.002), 0.923 (0.877–0.971)), TXNIP ((p = 0.001); 2.809 (1.558–5.064)) the body weight ((p = 0.033); 1.254 (1.018–1.544)) were independently associated with CSA. Conclusions: Our study concluded that the dysregulated mRNA PIK3C2A and TXNIP gene expressions may be useful in diagnosis of CAD and prediction of ACS development.
Background and study aim: Cirrhotic patients are more vulnerable to bacterial infection. Pneumonia is the fourth most common infection, particularly in advanced disease. Antimicrobial resistance (AMR) has great concern among cirrhotic. The aim of this study was to characterize the AMR, distribution of bacteria isolated from chronic hepatic patients with pulmonary infections, and evaluation the antimicrobial susceptibility of bacteria isolated from sputum. Patients and Methods: This cross-sectional observational study was carried on 98 cirrhotic patients with healthcare-associated pneumonia. Antimicrobial susceptibility testing was conducted using the Kirby–Bauer disc diffusion process according to Clinical and Laboratory Standards Institute (CLSI) guidelines for various therapeutically applicable antibiotics. Data manipulation was done using Microsoft Excel® spreadsheet. Results: The most common organisms isolated from sputum samples in the present study were E coli (19.39%), Klebsiella spp (15.31%), Staph aureus (14.29%) and Pseudomonas (9.18%) while no growth of organisms observed in 28.58%. The antimicrobial-susceptibility for Enterobacteriaceae species isolated from sputum showed higher sensitivity to Imipenem (88.2%), Piperacillin – tazobactam (73.5%), and Ampicillin (70.59%) while Ceftriaxone , Ceftazidime and Cefotaxime showed higher resistance respectively (64.71%, 58.82% and 55.89%). The antimicrobial-susceptibility results for S.aureus species isolated from sputum showed higher sensitivity to Vancomycin (100%) followed by Oxacillin ( 64.29%) while Penicillin G showed complete resistance 100%, followed by Tetracycline 92.86% ,and Co- trimoxazole 85.71%. Conclusion: Gram-negative bacteria were the cause of bacterial infections in significant proportion of patients with increased sensitivity to B-lactam antibiotics and ampicillin. However third and fourth generation cephalosporin had the higher resistance values.
Background. Soluble urokinase plasminogen activator receptor (suPAR) is an emerging biomarker in different clinical disorders but data in pediatric pneumonia is scarce. Our objective was to assess utility of suPAR in pediatric community-acquired and hospital-acquired pneumonia. Methods. A prospective observational study including 120 hospitalized pneumonia patients and 55 healthy controls. Patients fell into two groups: community-acquired pneumonia (CAP) group (75 patients) and hospitalacquired pneumonia (HAP) group (45 patients). CAP severity scores were calculated, including Predisposition, Insult, Response, Organ dysfunction modified (PIROm) score and Pediatric Respiratory Severity (PRESS) Score. suPAR was measured to CAP patients on admission and to HAP patients on the day of pneumonia diagnosis. suPAR was also measured to controls. Results. suPAR was higher among the whole patient cohort compared with controls (p < 0.001) and higher among CAP group compared with both controls (p < 0.001) and HAP group (p < 0.001). No significant difference was found between HAP and control groups. suPAR was higher among CAP patients with shock, PICU admission, mechanical ventilation, and death (p=0.013, 0.044, 0.019, 0.049 respectively). Among CAP patients, suPAR correlated with oxygen saturation, pulse rate, respiratory rate, PRESS, and PIROm. suPAR had area under Receiver Operating Characteristic Curve=0.68 for prediction of severe CAP. Among HAP group, suPAR was negatively correlated with oxygen saturation (rs=-0.31; p=0.048) and was higher among patients with shock (p=0.005) and among those with increased pediatric Sequential Organ Failure Assessment (pSOFA) score (p=0.034). Conclusions. suPAR is promising for diagnosing pediatric CAP but not HAP. suPAR predicted illness severity in both CAP and HAP but performed better in the former.
Background:Acute myeloid leukemia (AML) is of heterogeneous pathogenesis and caused by alterations of multiple genes. CircRNAs act as oncogenes or tumor suppressors in numerous tumors and could be novel diagnostic and prognostic biomarkers. Few studies had incorporated circRNAs in AML.Aim of the Work:Assessment of circANXA2, circ0075001, and circFBXW7 gene expressions in AML patients. Evaluation of their relations with clinical, cytogenetic, and overall survival outcome to emphasize their diagnostic role and prognostic impact.Methods:This study was carried out on 120 subjects (66 AML patients and 54 controls). All subjects were subjected to gene expressions assay for circANXA2, circ0075001, circFBXW7 by quantitative real-time polymerase chain reaction.Results:Prominent overexpression of circANAX2 and circ0075001 in patients than control (P < 0.001), whereas circFBXW7 was markedly downregulated in patients than in control (P < 0.001). Moreover, circANXA2 with AUC 0.824, P <0.001, had a sensitivity of 74.24%, specificity 88.89% whereas circ0075001 with AUC 0.855, P < 0.001, had the highest sensitivity of 83.33% and specificity 79.63%, and circFBXW7 with AUC 0.826, P < 0.001, had a sensitivity of 75.76% and specificity 74.07% in the distinction of AML patients from controls. Additionally, we find out that high expression of circANXA2 and circ0075001 correlated significantly with splenomegaly, hepatomegaly, less differentiated FAB subtypes (M5, M7), short overall survival, and had an adverse cytogenetic pattern.Conclusion:CircANXA2, circ0075001, and circFBXW7 gene expressions could serve as potential diagnostic biomarkers for AML disease. Moreover, CircANXA2 and circ0075001 exert poor prognostic effects on AML patients.
Background:We aimed to evaluate the diagnostic roles of AFAP1-AS1 and ASB16-AS1 in colorectal cancer and highlight their roles in predicting colorectal cancer patients' prognosis.Methods:In this case-control study, 146 participants were involved. Group I included 47 patients with CRC. Group II composed of 49 patients with benign lesions in the colon, and Group III included 50 apparently normal subjects of coincided age and gender as controls. All participants were subjected to clinical and endoscopic evaluations, CA19-9, CEA, and quantification of relative expression of lncRNAs ASB16-AS1 and AFAP1-AS1.Results:CRC patients had significantly elevated expression levels of both lncRNAs in tissue and plasma samples versus benign and control groups (p < 0.001). Despite the higher sensitivity of tissue samples results, the relative expression of both lncRNAs in plasma samples was very encouraging in the discrimination between patients with CRC versus control and benign groups. Furthermore, both lncRNAs could discriminate patients with early-stage CRC (stage I&II) from being colonic lesion and control groups with better sensitivity and specificity presented by ASB16-AS1 in tissue and plasma than results detailed by AFAP1-AS1. High expression levels of ASB16-AS1 in tissue and plasma and tissue lncRNA AFAP1-AS1 are significantly correlated with decreased overall survival (p < 0.001) and reduced progression-free (p < 0.001) compared to low expression in CRC patients.Conclusion:We propose the utilization of lncRNA ASB16-AS1 and lncRNA AFAP1-AS1 as biomarkers in diagnosis and prognosis estimation for CRC patients. Moreover, their value in early CRC patients may affect the assortment of target therapy and treatment protocols.
Objective To assess the ability of serum soluble urokinase plasminogen activator receptor (suPAR) to predict the severity of pediatric community-acquired pneumonia (CAP). Background CAP is an important cause of pediatric mortality and morbidity. Elevated level of suPAR has been associated with activation of the immune system, and it may be a novel biomarker for pneumonia severity. Patients and methods A prospective observational study was conducted on a patient group, consisting of 75 patients hospitalized for CAP, in addition to 15 healthy children as a control group. CAP severity was evaluated by Pediatric Respiratory Severity Score. The blood samples were collected within 24 h of hospital admission of patients and for all children in the control group for measurement of suPAR. Results The suPAR level in the patient group was significantly higher than controls [median and range, 3798 pg/ml (395–5694) vs. 395 pg/ml (173–729); P < 0.001]. suPAR level was significantly higher in children with severe pneumonia compared with those having nonsevere pneumonia [median and range, 4430 pg/ml (586.7–5540.3) vs. 3338.5 pg/ml (395–5694.9); P < 0.021]. suPAR was negatively correlated with age, weight, and saturation of peripheral oxygen (rs = 0.31, 0.32, and -0.24, and P = 0.007, 0.004, and 0.041, respectively) but positively correlated with respiratory rate and pulse (rs = 0.24 and 0.26, and P = 0.041 and 0.027, respectively). Conclusion suPAR is a marker of pediatric CAP and can be used for prediction of CAP severity.
Background and aim: Gastric Cancer (GC) is a leading cause of morbidity and mortality worldwide, particularly in developing nations, only a few suitable gastric cancer serum biomarkers with acceptable sensitivity and specificity exist. This work aims to highlight and uncover miR-30a-5p and miR-182-5p's diagnostic roles regarding gastric cancer and their roles in predicting prognosis. Methods: 148 patients participated in this study. Groups I, II, and III had 47 patients with GC, 54 patients with benign gastric lesions, and 47 apparently healthy subjects of coincided age and gender as controls, respectively. All participants were clinically evaluated and subjected to CBC, serum CEA, and CA19-9 by ELISA, and real-time PCR tests of miR-30a-5p and miR-182-5p. Results: MiR30a-5p and miR-182-5p were down regulated in gastric cancer patients in Group I more than Groups II and III (P < 0.001). ROC curve analysis revealed that miR30a-5p had better AUC, sensitivity, and specificity (0.961%, 93.62%, and 90.74%respectively). When miR-182-5p was gathered with CEA and CA19-9, specificity raised to 98.15% and PPV to 97.6%. Lower miR-30a-5p levels are linked with the presence of distant metastases, advanced TNM stage, and degree of pathological differentiation of tumors in GC patients (p = 0.034, 0.019, 0.049) respectively. According to the multivariate analysis, miR30a-5p expression level could be an independent predictor of GC. Conclusion: Our results exhibited that miRNAs, miR-30a-5p and miR182-5p, gene expression have a diagnostic power and can identify patients with GC. MiR-30a-5p displayed the highest diagnostic specificity and sensitivity. Besides other known tumor markers, they could offer simple noninvasive biomarkers that predict gastric cancer.
Acne vulgaris (AV) is a very common inflammatory dermatosis. It has a complex pathogenesis in which oxidative stress plays an important role. Neutrophil cytosolic factor (NCF)-1 gene encodes for NCF1 protein which shares in reactive oxygen species (ROS) production. Copy number variation (CNV) is a type of genetic variance in which gene copies are duplicated or deleted. The current work aimed to detect the association between NCF1 CNV and NCF-1 genotypes and AV to explore their possible role in increased disease risk or influencing its clinical presentation. Twenty-five cases with AV and 25 age- and gender-matched healthy volunteers were selected. NCF1 CNV and genotypes were determined using quantitative real-time polymerase chain reaction. NCF1 copy number was significantly increased in patients compared to the control group (p = 0.02). Higher copy number increased the risk of occurrence of AV by about 4-fold. The NCF1 genotype was more prevalent in patients (72%) compared to NCF1B (24%) and NCF1C (4%) variants, while NCF1B and NCF1C variants (68%) were more prevalent in the control group. The NCF1B genotype decreased the risk of occurrence of AV by 0.2-fold. NCF1 was significantly associated with cases more than controls (p = 0.005). It increased the risk of occurrence of acne by 5.4-fold. There was significant association between NCF1 copy number and disease duration where higher number was associated with long disease duration (p = 0.03). Higher copy number was also associated with the NCF1 genotype (p = 0.01). This study suggests that increased copy number of NCF1 gene may be a predisposing factor for AV development. However, the presence of NCF1B and NCF1C variants lowers ROS production and subsequently decreases the risk of development of AV.
ObjectiveThis study was designed to highlight clinicoepidemiological profile investigation findings of acute viral encephalitis in children.BackgroundOwing to the high morbidity and mortality associated with viral encephalitis, it is important to establish a diagnosis and initiate therapy as soon as possible.Patients and methodsThis study was conducted on 50 cases that met the diagnostic criteria of encephalitis. Most of these patients were admitted at either General Department or Pediatric ICUs of Menoufia University Hospital and Shebin El-Kom Fever Hospital. All were subjected to complete history and examination, cerebrospinal fluid examination, electroencephalogram, computed tomography brain, and MRI brain.ResultsOf the 50 patients included in the study, there were 30 (60%) male 20 (40%) female patients, with mean ± SD age of 5.56 ± 4.90 (0.42–15.0) years. A total of 35 (70%) patients were from the rural area, 25 (50%) patients had low socioeconomic status, and 20% had positive consanguinity. Delayed development was observed only in 14% of patients. Pus cells ranged from 5 to 500 cell in 74% of patients, with mean lymphocyte percentage of 53.33 ± 35.98. Protein was elevated more than or equal to 50 in 82% of patients, and 20% of the patients showed background slowing and focal sharp wave in temporal lobe by electroencephalogram. Brain edema was detected in 15% patients. MRI abnormalities were detected in 24 patients.ConclusionClinical data, laboratory results, and neuroimaging findings support the diagnosis of encephalitis.
ObjectiveTo evaluate the role of serum S100B in vitiligo. This may provide a closer understanding of the pathogenesis of this disease entity. Hopefully, this insight can set the route for newer therapeutic approaches.BackgroundVitiligo is an acquired dyschromia of the skin, in which there is a loss of epidermal melanocytes. The prevalence of vitiligo is ~ 0.1–2% worldwide. The exact pathogenesis of vitiligo remains elusive and is likely multifactorial. S100 proteins are localized in the cytoplasm and nucleus of a wide range of cells and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation.Patients and methodsThis case–control study was carried out on 40 patients with vitiligo and 40 age-matched and sex-matched healthy volunteers as a control group. All participants were subjected to a full history taking, general examination, local examination with determination of site of the lesions, assessment of vitiligo activity and severity, and laboratory investigation for quantitative measurement of S100B protein in vitiligo serum.ResultsThere was a highly significant difference between cases and controls regarding the mean S100B level. There was a significant difference between cases with elevated S100B and normal level of S100B regarding vitiligo area scoring index score. There was a significant positive correlation between S100B and vitiligo disease activity score.ConclusionS100 protein is elevated in patients with vitiligo more than healthy population. This may be owing to that S100 protein is involved in vitiligo pathogenesis through affecting Ca homeostasis and activation of proinflammatory cascade with release of interleukin-1B and interleukin-6.
Background The aim of this study is to evaluate the use of on-admission plasma levels of BNP, MR-proADM, and cTnI in diagnosing the clinical severity and progression of heart failure (HF) in children with CHD. Also, to correlate the levels of these biomarkers with the HF outcome (survival versus in-hospital mortality). Results A prospective cohort study conducted in period from January 2017 to March 2018. All children presenting with HF had a Ross score assessment, echocardiography, and on-admission plasma level assay of BNP, MR-proADM, and cTnI. Patients were followed clinically throughout their hospital stay. The discriminatory power of on-admission measurement of each biomarker was determined using the receiver-operating characteristic (ROC). The results showed a significantly high on-admission plasma level of the 3 biomarkers among CHD cohort children than healthy controls ( p < 0.001). Linear correlation was noted between the 3 biomarkers with Ross score, ejection fraction, and duration of hospital stay. Furthermore, significant association between on-admission level of the 3 biomarkers (BNP, MR-proADM, and cTnI) with patient’s in-hospital mortality ( p = 0.0003, Beta coefficient = 0.842; p = 0.0495, Beta coefficient = 0.183; and p < 0.001, Beta coefficient = 0.635, respectively), with on-admission BNP (cut of point 507.13) predicting in-hospital mortality, with 95.5% sensitivity, 88% specificity. Conclusions There is a high diagnostic value of measuring the on-admission levels of BNP, MR-proADM, and cTnI regarding the clinical severity and disease progression in the setting of pediatric heart failure, but the BNP level was more superior in prediction of the patients’ outcome.
Background: Vitiligo is a complicated disorder identified by advanced degeneration and loss of melanocytes. Some of the main factors that cause vitiligo are cytotoxicity, autoimmunity, along with several genetic factors. Aim: The current study aims at evaluating the association of TNFAIP3 rs6920220 and DEFB1 rs1800972 gene polymorphisms as risk factors of non-segmental vitiligo in Egyptian patients. Patients and methods: This study was conducted on 125 patients with non-segmental vitiligo and 110 age and gender-matched healthy controls. Genotyping of TNFAIP3 rs6920220 and DEFB1 rs1800972 polymorphisms were analyzed by TaqMan probe-based real-time PCR. Results: Significant differences in the genotypes and alleles distributions of both polymorphisms were detected between patients and controls. The AA and GA genotypes of TNFAIP3 rs6920220 increase the risk of vitiligo with OR 4.422 and 1.863 respectively. The (GA + AA) model reported risk with OR 2.016 compared to the GG genotype. The CG, GG genotypes compared to the CC genotype of DEFB1 rs1800972 were found to have an increased risk of vitiligo with OR1.7 and 2.865 respectively. The (GG+ CG) model had OR 1.856. The AA genotype, the A allele of TNFAIP3 rs6920220, the GG genotype, and the G allele of DEFB1 rs1800972 were more frequent in patients with the progressive course and those with a positive family history of other autoimmune diseases as compared to controls. Conclusion: TNFAIP3 rs6920220 and DEFB1 rs1800972 polymorphisms could participate in the pathogenesis of vitiligo and might be considered as potential risk factors for vitiligo.
Background and study aim: Liver biopsy is the gold standard method to assess hepatic inflammation and fibrosis in chronic hepatitis C infection (HCV). The non-invasive assessment of liver fibrosis is the key target that has inspired many new methods because of the limitations of liver biopsy. The aim of the work was to improve the efficiency of non-invasive liver fibrosis assessment in Egyptian patients with chronic hepatitis C by comparing Doppler ultrasound (US) of hepatic blood flow and fibroscan with liver biopsy. Patients and Method: In this retrospective analysis, 78 patients with HCV had already undergone liver biopsies as part of work panel prior to HCV treatment. Fibroscan examination, abdominal ultrasonography and Doppler ultrasound were done to the patients by experienced operators. Results: There was a strong positive correlation between the degree of liver fibrosis by fibroscan and the degree of inflammation in the histopathological analysis. Receiver Operator Characteristic (ROC) curve analysis revealed that fibroscan failed to detect FII fibrosis. However, fibroscan was more accurate in detecting FIII fibrosis.The Doppler ultrasound parameter ROC curve analysis, the portal vein blood flow volume (PVBFV) was shown to be more accurate in detecting lower grades of fibrosis than higher. Conclusion: For detection higher degrees of fibrosis, Fibroscan has a strong match with liver biopsy; however, Doppler US is more sensitive in detecting lower grades of fibrosis in patients infected with HCV .
Systemic lupus erythematosus (SLE) is a chronic autoimmune illness with a growing prevalence in many populations. Few studies have examined genetic predisposition to SLE, so we aimed to examine the clinical impact of the genetic polymorphisms MECP2 rs2734647and TIRAP rs8177374 on the outcomes and therapeutic precision of SLE with and without nephritis. This study included 110 SLE patients-divided into 63 with lupus nephritis (LN), and 47 without nephritis-and 100 controls. Laboratory measurements including CRP, ESR, ACR, CBC, anti-ds-DNA, vitamin A, C3, and C4 were carried out, along with genotyping of MECP2 rs2734647and TIRAP rs8177374 by real-time PCR and sequencing. Treg %, vitamin A, C3, and C4 were lower, whereas Th17 % was higher, in patients vs. controls (p < 0.001). The T allele of MECP2 rs2734647 was higher in LN than in non-nephritis and control subjects. Moreover, the T allele of TIRAP rs8177374 was higher in LN than in non-nephritis and control subjects. The MECP2 and TIRAP genes could play a role in predisposition to SLE, and can also predict disease progress to nephritis, helping to personalize medicine.
Background: One of the most recent approaches of tumor molecular characterization is mainly based on microRNA expression profile. No single marker is sufficiently accurate for clinical use and multiple biomarker panels are developed for three main purposes tumor subtype classification, early detection and prediction of tumor responses to treatment and prognosis of patients. Micro- 21 and Micro-126 have received special attention because of their relationship with many cancer sites we aimed to study their diagnostic and prognostic utility in lung cancer patients. Methods: 100 subjects classified into two groups: group 1 comprised 60 Lung cancer patients, and group II comprised 40 age- and sex-matched volunteers, Real-time PCR of micro RNA 21 and 126 were done and studied in control and patients to detect diagnostic utility and correlated with all disease clinicopathological data and patients survival. Results: Higher miR-21 and lower miR-126 levels were found in lung patients than in controls. The sensitivity of CEA and miR-21 and miR-126 (78.3%, 96.7%, 90%) at cutoff points (7.5, 2.35, 2.175) respectively to distinguish NSCLC patients from controls. On combining both microRNA21 & microRNA 126 an improvement of sensitivity to 97% was noted. For patients, miR-21 increased significantly with metastatic stage and highest grade GIII. Regarding survival there was significantly longer overall survival among patients with more early stages and lower grades GI &II and with low Micro- 21 and high micro-126. On Cox regression analysis for independent prognostic factors of survival; micro-126 and presence of metstases were the independent factor for survival with hazard ratio 0.26 (95% CI 0.06–1.09) 3.64 (95% CI 1.22–16.5) respectively. Conclusions: CirculatorymiR-21 and miR-126 may play significant role in diagnosis and prognosis in NSCLC patients. Legal entity responsible for the study: Menoufia University. Funding: Has not received any funding. Disclosure: All authors have declared no conflicts of interest.
Objective To shed light on the possible role of apelin-36 in psoriasis and to evaluate the propensity of the psoriatic population to a prediabetic condition through determining the serum level of apelin-36 in psoriatic patients. Background Psoriasis is a chronic, inflammatory skin disease characterized by the formation of sharply demarcated, scaly, erythematous plaques. Research over the last few decades has shown the relation of psoriasis pathogenesis to systemic diseases and metabolic syndrome (obesity, hypertension, dyslipidemia, and diabetes). Patients and methods This case–control study was carried out on 60 cases with psoriasis and 60 age-matched and sex-matched healthy individuals as a control group. All were subjected to full history taking, general examination, local examination with determination of site of lesions and assessment of psoriasis area and severity index score. Serum apelin-36 and glycosylated hemoglobin (HbA1c) was done for all cases and control (P Results The serum level of apelin-36 was lower in psoriatic patients than controls (mean: 37.17 ± 75.93 vs. 221.85 ± 483.40 ng/ml; P = 0.028), while the blood level of HbA1c was higher in psoriatic patients than controls (mean: 5.98 ± 0.62 vs. 5.55 ± 0.54%; P Conclusion Apelin-36 serum level was decreased and HbA1c was increased in psoriasis patients that indicated impairment in glucose metabolism in psoriatic patients.