Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment

Components of experiential value: Case of hospitality industry

Customer experience is acknowledged as a dominant objective for organizational strategy, affecting sustainable differentiation from competition. However concerning planning, application and measurement of experiences literature has failed to create a universal continuum. This study based on a qualitative inquiry with 22 upscale hotel managers, uses the value chain concept in order to determine the activities affecting customers' experiential value for services. Interviews with managers were content analyzed and compared with relevant literature before experiential value creating activities were grouped under human resources, technology, procurement & strategic alliances, and physical design. (C) 2014 The Authors. Published by Elsevier Ltd

Components of Experiential Value: Case of Hospitality Industry

AbstractCustomer experience is acknowledged as a dominant objective for organizational strategy, affecting sustainable differentiation from competition. However concerning planning, application and measurement of experiences literature has failed to create a universal continuum. This study based on a qualitative inquiry with 22 upscale hotel managers, uses the value chain concept in order to determine the activities affecting customers’ experiential value for services. Interviews with managers were content analyzed and compared with relevant literature before experiential value creating activities were grouped under human resources, technology, procurement & strategic alliances, and physical design

Impact of multiple etiology on dizziness handicap

Objective: Our aim was to find the ratio of multiple diagnosis in dizziness patients and to evaluate the effect of multiple etiologies on handicap level of the patient.Study Design: Retrospective chart review.Setting: Tertiary referral center.Intervention: The data of 703 patients (178 men and 525 women) were included in the study. Diagnoses of the patients were made in a multiple-specialty environment including otolaryngology, neurology, cardiology, internal medicine, and rehabilitation medicine.Main Outcome Measures: All patients filled the dizziness handicap inventory and pointed the severity of dizziness on a 10-point visual analog scale.Results: Four hundred thirty-three patients (61.6%) have only one diagnosis, whereas 183 (26%) had two. Three diseases have been found in 34 patients (4.8%), and four diseases were present in eight patients (1.1%). The mean number of diagnosis in one patient was 1.32 +/- 0.71. There was a significant difference between two sexes on the number of disease. There was no correlation between age and the number of diagnosis. There was no significant difference in functional scale, but the statistically significant increases are present in both physical (p < 0.05) and emotional (p < 0.01) scales. There was no correlation between age and handicap levels.Conclusion: Multiple diagnoses were important factors on physical and emotional handicaps. It was also found that this problem is not limited with older age group

Ileocolonic Lymphonodular Hyperplasia in Children Related to Etiologies Ranging from Food Hypersensitivity to Familial Mediterranean Fever

Objective:We aimed to share our observations on the demographics, clinical characteristics, and outcomes of lymphonodular hyperplasia (LNH) in children.Subjects and Methods:The study included children on whom colonoscopy was performed between January 2015 and May 2018 (n= 361). Demographics, treatment modalities, and outcomes of the patients with LNH were recorded.Results:LNH was found in 66 patients (18.3%; mean age 8.6 +/- 5.96 years, 59.1% male). We found that the etiologic factors were food hypersensitivity (FH) in 25 (37.8%), nonspecific colitis in 12 (18.2%), irritable bowel syndrome in 10 (15.2%), familial Mediter-ranean fever in 7 (10.6%), primary immunodeficiency in 4 (6.1%), and intestinal dysmotility, oxyuriasis, Crohn's disease, and giardiasis in 1 (1.5%) patient. Additionally, in the genetic analysis of patients with idiopathic LNH (n= 4), we detected heterozygoteMEFVmutations in all. Cow's milk and egg (25%) were the most common allergens in patients with FH. Symptoms of all patients (n= 25) improved after an elimination diet.Conclusions:LNH is a common finding in pediatric colonoscopies with a variety of etiologies ranging from FH and familial Mediterranean fever to immunodeficiency

Is kiwifruit allergy a matter in kiwifruit-cultivating regions? A population-based study

ORHAN, FAZIL/0000-0002-4850-932XWOS: 000393892500004PubMed: 27732749Background: Although kiwifruit is known as a common cause of food allergy, population-based studies concerning the prevalence of kiwifruit allergy do not exist. We aimed to determine the prevalence and clinical characteristics of IgE-mediated kiwifruit allergy in 6-18-year-old urban schoolchildren in a region where kiwifruit is widely cultivated. Methods: This cross-sectional study recruited 20,800 of the randomly selected 6-18year- old urban schoolchildren from the Rize city in the eastern Black Sea region of Turkey during 2013. Following a self-administered questionnaire completed by the parents and the child, consenting children were invited for skin prick tests (SPTs) and oral food challenges (OFCs). Children with suspected IgE-mediated kiwifruit were skin prick tested with kiwifruit (commercial allergen and prick-to-prick test with fresh kiwifruit) and a pre-defined panel of allergens (banana, avocado, latex, sesame seed, birch, timothy, hazel, cat, Dermatophagoides pteronyssinus, and Dermatophagoides farinae). All children with a positive SPT to kiwifruit were invited for an open OFC. the prevalence of IgE-mediated kiwifruit allergy was established using open OFCs. Results: the response rate to the questionnaire was 75.9% (15783/20800). the estimated prevalence of parental-perceived IgE-mediated kiwifruit allergy was 0.5% (72/15783) (95% CI, 0.39-0.61%). of the 72 children, 52 (72.2%) were skin tested, and 17 (32.7%) were found to be positive to kiwifruit with both commercial extract and kiwifruit. the most frequently reported symptoms in kiwifruit SPT-positive children were cutaneous (n = 10, 58.8%) followed by gastrointestinal (n = 6, 35.3%) and bronchial (n = 4, 23.5%). Oral symptoms were reported in six (35.3%) children. All children who were kiwifruit positive by SPT were found positive during the oral challenge. the confirmed prevalence of IgE-mediated kiwifruit allergy by means of open OFC in 6-18-year-old urban schoolchildren living in Rize city was 0.10% (95% CI, 0.06-0.16). Conclusion: Prevalence of parental-perceived and clinically confirmed kiwifruit allergy is not consistent. in contrast to expectations, kiwifruit allergy prevalence was low in a city where it is cultivated and highly consumed

Complementary and alternative medicine use in pediatric gastroenterology outpatient clinic: Cross-sectional study Pediatrik gastroenteroloji polikliniğinde tamamlayıcı ve alternatif tıp kullanımı: Kesitsel çalışma

Copyright © 2021 by Türkiye Klinikleri.Objective: Although there is sufficient data on the use of complementary and alternative medicine (CAM) in adults, the data on children is relatively limited. The present study was designed to investigate the frequency and factors associated with CAM usage in children with chronic liver and gastrointestinal diseases. Material and Methods: The study included patients aged 0-18 years who were followed up for chronic liver disease or gastrointestinal diseases. A questionnaire was administered to their parents, which probed information on the demographic characteristics and CAM use in children and the socioeconomic status and educational level of parents. Results: The study involved a total of 135 patients (60% girls, mean age of 10.45±5.05 years). Of these, 20 patients (14.8%) were found to be using CAM. The duration of CAM users' follow-up period was significantly higher than non-CAM user (5.84±3.71 years vs. 4.06±3.25 years, p=0.030). The frequency of CAM usage was significantly higher in patients with celiac disease (22.9%, p=0.049) and liver transplant recipients (44.4%, p=0.009). The frequency of CAM usage was significantly higher in patients who were not prescribed or were currently not using any conventional medicine compared to patients using conventional medicine (65% vs. 38.3%, odds ratio: 2.997). Conclusion: Although the frequency of CAM usage was low in our patient group, we consider that parents and physicians should be in full cooperation about the use of CAM and the effectiveness, side effects, toxicity, and potential drug interactions of CAM therapies