The Significance Of Western Blot In Primary Immunodeficiencies: Examples From Two Families

Introduction: Primary immunodeficiencies (PID) with extended clinical spectrum, evaluated in rare genetic disorders, are difficult to diagnose and treat. Utilization of the next generation sequencing more than 300 genes have been associated with PIDs and new genes are continued to be determined. Even though, variants identified by the next generation sequencing are described as pathogenic in silico, investigating their possible pathogenic roles by analysing protein expression is crucial in patients. Western blot method is an old and reliable method used in molecular biology to investigate the responses of intracellular and extracellular proteins to exogenous stimuli and evaluate protein expression as existing or lost, increased or decreased as well as determining cell-specific protein isoforms, and in particular truncated proteins responsible for occurrence of a disease. Material and Methods: In this study, STK4 and LRBA protein expressions were evaluated with western blot in three patients from two families having STK4 variants and one patient having LRBA variant from a family. Results: It was determined that protein expression was lost in patients. Conclusions: New variants were evaluated as pathogenic due to lose of protein expressions in patients.WoSScopu

Tumor Necrosis Factor Alpha-308 G/A And Interleukin 1 Beta-511 C/T Gene Polymorphisms In Patients With Scarring Acne

Background Acne is a chronic inflammatory skin disorder which may heal with scarring. Tumor necrosis factor alpha (TNF alpha) and interleukin 1 beta (IL-1 beta) are considered as the main responsible proinflammatory mediators of acne pathogenesis. Oversecretion of these cytokines was found to be associated with TNF alpha-308 G>A and IL-1 beta-511 C Aim To evaluate the association of TNF alpha-308 and IL-1 beta-511 gene polymorphisms with acne and postacne scarring susceptibility and acne severity. Methods Study subjects included 90 patients with acne vulgaris (31 males, 59 females; mean age: 19.6 +/- 3.7 years) and 30 healthy controls (11 males, 19 females; mean age: 19.2 +/- 5.1 years). Patients were sub-grouped on the basis of acne severity into mild, moderate, and severe acne groups and on the presence postacne scarring into scarring acne and nonscarring acne groups. Peripheral venous blood samples were obtained for performing real-time PCR analysis for detecting TNF alpha-308 and IL-1 beta-511 genotypic variants. Results Among patients, 21.7% (n = 26) had mild, 22.5% (n = 27) had moderate, 30.8% (n = 37) had severe, and 30% (n = 36) had scarring acne. Genotypic variants of TNF alpha-308 and IL-1 beta-511 did not statistically differ between acne patients and controls (P values: .245 and .466). When compared in terms of acne severity and the presence of postacne scarring, no statistical significance was observed regarding frequencies of genotypic variants related to the both TNF alpha-308 and IL-1 beta polymorphisms (P > .05). Conclusion TNF alpha-308 and IL-1 beta polymorphic variants are not associated with acne and postacne scarring susceptibility and acne severity.WoSScopu

The Association Between Vitamin D Levels And Infections In Patients With Primary Immunodeficiency

Introduction: Vitamin D is a hormone responsible in the regulation of immune response. This study was designed to assess the relationship of vitamin D deficiency on the development of infections in patients with primary immunodeficiency (PID). Materials and Methods: A total of 39 patients (M/F: 23/16) and 39 age-and sex-matched healthy controls (M/F: 23/16) were enrolled in the study. We measured the frequency of infections and serum vitamin D levels in winter and summer seasons. Results: The median age of the patient and control groups were 15.0 (Interquartile range: 7.5-26.0) years and 14.0 (9.0-25.0) years, respectively (P=0.810). Winter and summer vitamin D levels were similar both in patient and control groups (p=0.492 for winter, p=0.503 for summer). Number of the patients with low serum vitamin D levels and with infections were higher in winter than in summer. Auroimmune and inflammatory diseases (AID) were predominantly observed in patients with low winter vitamin D levels and in common variable immunodeficiency (CVID) group. Patients with CVID had lower serum vitamin D levels both in summer (p=0.048) and in winter (p=0.008). Conclusions: In this study, we showed the seasonal variation of serum vitamin D in patients with PID. There was also increased frequency of CVID and AID in those patients with low vitamin D levels. In addition, vitamin D might be given in winter to the patients with PID to rake infections and autoimmune disorders under control.WoSScopu

Light and Scanning Electron Microscopic Structure of the Pecten Oculi in the Common Barn Owl (Tyto alba)

This study was carried out to investigate the structural properties of pecten oculi in the common barn owl (Tyto alba) by light and electron microscope. Fourteen eyeballs from seven owls were studied. The pecten oculi was located postero-anteriorly in the retina layer where the optic nerve enters the eye. The pecten oculi that was dark brown and pleated type consisted of 7 (n=4) or 8 (n=10) vascularised pectineal pleats. Histologically, there were numerous vessels of different size and melanocytes in the area of the pleats. Melanocytes were more frequently observed in the periphery of the pecten oculi's pleats. Scanning electron microscopy showed hyalocytes on the surface of the pecten oculi. The results of the study indicated that the pecten oculi of the common barn owl was morphologically similar to that of other nocturnal birds

Does Employing a Flowchart Improve the Diagnostic Performance of Cardiac Magnetic Resonance Imaging in Left Ventricular Noncompaction?

Background: To test the hypothesis that making a diagnosis of left ventricular noncompaction (LVNC) on cardiac magnetic resonance imaging (CMRI) using a noncompacted-to-compacted (NC/C) myocardium ratio > 2.3 would yield significant errors, and also to test a diagnostic flowchart in patients who undergo CMRI and have clinical and echocardiographic findings suggesting LVNC could improve the diagnosis of LVNC

Clinical And Genetic Features Of Il12R Beta 1 Deficiency: Single Center Experience Of 18 Patients

Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by infections with weakly virulent mycobacteria (BCG and environmental mycobacteria), M. tuberculosis, Salmonella, candida and some other intracellular microorganisms. Nine different genetic defects have been defined to cause MSMD and IL-12R beta 1 deficiency is the most common form. We present here the clinical and genetic features of 18 patients with IL12R beta 1 deficiency diagnosed by surface expression of IL-12R beta 1 and Sanger's sequencing. Seventeen patients showed classical presentation (infections with BCG, salmonella and candida) while one patient experienced recurrent leishmaniasis. In all patients the percentage of activated lymphocytes with surface expression of IL12R beta 1 was <1% indicating that it is an effective method for the screening of these patients. Three recurrent mutations were responsible for 85% of our families. Prognosis was good in patients, in whom specific antimicrobial therapy was given before dissemination occurs, as well as prophylactic antimicrobial treatment when needed and IFN-gamma therapy for severe infectious episodes.WoSScopu

Defective Pneumococcal Antibody Response In Patients With Recurrent Respiratory Tract Infections

Streptococcus pneumoniae is a common pathogen responsible for pulmonary infections and the leading cause of mortality and morbidity in patients with particularly B cell immunodeficiencies. Antibody production is the principal protective immune response against S. pneumoniae and measurement of the production of antipolysaccharide antibodies is important in the evaluation of B cell deficiencies. We quantified serotype-specific immunoglobulin G antibodies against seven common pneumococcal serotypes before and three weeks after unconjugated vaccine in 416 patients with recurrent respiratory tract infections; fifty-five (13%) of whom showed impaired antibody response. We could evaluate 41 of these 55 patients for their particular clinical features. Specific antibody deficiency, was diagnosed in 10 of these patients, common variable immunodeficiency in 18, ataxia telangiectasia in 10 and other antibody deficiencies in 7 (transient hypogammaglobulinemia in 4, IgG subclass deficiency in 1, partial and selective IgA deficiency in 1) patients. Evaluation of the antibody response to polysaccharide antigens should be considered early on in patients with recurrent respiratory infections and required particularly for the diagnosis of specific antibody deficiency and the decision of the appropriate treatment approaches.WoSScopu

Comparison of three-dimensional ultrasound and magnetic resonance imaging diagnosis in surgically proven Mullerian duct anomaly cases

WOS: 000371187300005PubMed ID: 26699099Objective: To determine and compare the diagnostic accuracy of 3-dimensional ultrasound (3D US) and magnetic resonance imagining (MRI) in patients with surgically diagnosed Mullerian duct anomaly (MDA). Study design: Charts of patients with MDA were retrospectively evaluated. Patients who underwent both laparoscopic and hysteroscopic surgery and had 3D US and MRI examinations were included in the study. The diagnoses achieved via 3D US and MRI were compared with the surgical diagnoses to determine the diagnostic accuracy of these imagining techniques. Results: Twenty-nine patients were included in the study. Three-dimensional ultrasound detected 28 out of 29 (96%) patients correctly. Only one patient was diagnosed with a uterine septum instead of uterine arcuatus. Magnetic resonance imaging detected 23 out of 29 patients correctly (79%). The Kappa indexes of the 3D US and MRI were 0.896 and 0.592, respectively. Conclusion: Our results indicate that 3D US has a higher diagnostic accuracy level than MRI in evaluating MDA, especially when used in experienced hands. However, additional, well-designed studies are needed to better compare the diagnostic accuracy of the 3D US and MRI. Crown Copyright (C) 2015 Published by Elsevier Ireland Ltd. All rights reserved

Long Term Follow-Up of the Patients with Severe Combined Immunodeficiency After Hematopoietic Stem Cell Transplantation: A Single-Center Study

Background: We aimed to evaluate hematopoietic stem cell transplantation (HSCT) related outcomes of patients with severe combined immunodeficiency (SCID). Methods: We retrospectively collected data from SCID patients who were diagnosed, followed up and survived at least 2 years after HSCT. Results: Forty four SCID patients were included in the study. Median age of HSCT and follow-up period after HSCT were 7.1 months and 8.7 years, respectively. Human leukocyte antigen (HLA) identical donors were used in 77.3% (n = 34) of the patients (23 siblings, six fathers, two mothers, three extended family donors), HLA 1–2 mismatched family donors in 11.3% (n = 5), and haploidentical family donors in 11.3% (n = 5). CD3 and CD19 counts were normal in more than 90% and in 45.4% at last follow-up, respectively. Intravenous immunoglobulin (IVIG) could be stopped in 72.7% (n = 32) after HSCT. B+ SCID patients had better CD19 counts than B- (p < .001). T cell numbers, lymphocyte proliferation, IVIG need, immunoglobulin levels, antibody responses did not differ among B- and B+ immunophenotypes. Acute graft-versus-host disease (GVHD) was less in bone marrow transplanted patients (19.4%) than peripheral stem cell (58.3%) transplanted ones (p = .024). There was no correlation between age at transplantation and immune reconstitution. At the last follow-up, 70.2% and 78.3% of the patients had body weight and height above 3rd percentile, respectively. Conclusion: The immune reconstitution and the growth were normal in the majority of SCID patients after HSCT. It may be rational to use bone marrow instead of peripheral stem cell, as acute GVHD was less in bone marrow transplanted patients.Wo