In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can ...sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients.
We selected 28 genes of interest associated with monogenic IBD and performed targeted panel sequencing in 71 patients diagnosed with eoIBD or early-onset chronic diarrhea to detect causative variants. We compared these results to whole-exome sequencing (WES) data available for 25 of these patients.
Target coverage was significantly higher in the targeted gene panel approach compared with WES, whereas the cost of the panel was considerably lower (approximately 25% of WES). Disease-causing variants affecting protein function were identified in 5 patients (7%), located in genes of the IL10 signaling pathway (3), WAS (1), and DKC1 (1). The functional effects of 8 candidate variants in 5 additional patients (7%) are under further investigation. WES did not identify additional causative mutations in 25 patients.
Targeted gene panel sequencing is a fast and effective screening method for monogenic causes of eoIBD that should be routinely established in national referral centers.
Bu çalışmada konaklama işletmelerinin, turizm sektöründe önemli bir paydaşı olan seyahat acentelerini tercihlerinde etkili olan faktörler araştırılmıştır. Araştırma evrenini, Fethiye ve Marmaris’te ...faaliyette bulunan konaklama işletmesinde istihdam edilen üst ve orta düzey yöneticiler oluşturmaktadır. Anket tekniği kullanılarak 400 konaklama işletmesi yöneticisinden amaçlı örnekleme yoluyla veri toplanmıştır. Tam ve eksiksiz cevaplanan 354 anket değerlendirilmiştir. Elde edilen bu verilere sırasıyla; frekans ve yüzde, faktör analizi, t-testi ve ANOVA analizleri uygulanmıştır. Yapılan analizler sonucunda konaklama işletmelerinin seyahat acentelerini tercihlerinde etkili olan faktörler beş boyut olarak tespit edilmiştir. Bunlar; “Satış Artırma”, “Tanıtım ve Fiyat”, “İletişim ve Memnuniyet”, “Pazar Farklılığı” ve “Pazar Talebi” şeklinde isimlendirilmiştir. Bu faktörlerin konaklama işletmesi özelliklerine ve yöneticilerinin demografik durumlarına göre farklılık gösterip göstermediği de test edilmiştir. Buna göre; yöneticilerin çalıştıkları konaklama işletmesinin belge durumu, faaliyet süresi ve çalışılan seyahat acentesi sayısına göre anlamlı düzeyde farklılık gösterdiği; cinsiyet, yaş, eğitim durumu ve işletmedeki pozisyonlarına göre ise herhangi bir farklılığın olmadığı tespit edilmiştir.
A strong relation, interaction, loyalty between tourism businesses and their stakeholders is required for businesses in order to compete each other, to protect their situation in market and to reach ...their aims. The factors effective on accommodation businesses’ travel agency choice were investigated. The research area was consisted of the middle and upper managers of accommodation businesses in Fethiye and Marmaris. A questionnaire was prepared in order to collect data and was applied to 400 accommodation business managers. 354 of them turned back and analysed using SPSS 22 statistical package program. Frequency, factor analysis, t test, and ANOVA analysis were used in order to analyse the questionnaires. According to analysis; factors effective on accommodation businesses’ travel agency choice were determined as 5 dimensions. These are named as “Increasing the sales”, “Promotion and Price”, “Communication and Satisfaction”, “Market Differentiation” and “Market Demand”. It was analysed whether there was a difference between factors effective on accommodation businesses’ travel agency choice and features of accommodation business and demographic characteristics of managers. According to results; a significant difference on hotel license, activity period and the number of travel agency which the hotel has been working with, was determined. On the other hand, there was no difference on gender, age, education level and position of managers.
In the first half of 2022, the increase in cases of severe acute hepatitis in children with no epidemiological link and unknown cause has aroused concern worldwide. In this study, we aimed to ...determine the frequency of adenovirus in children with hepatitis of unknown origin in Turkey.
In this study, which was conducted with the participation of 16 centers from Turkey, between July 2022 and January 2023, 36 pediatric patients under the age of 18 who met the definition of acute hepatitis were included.
Twenty (55,6%) of patients were female and 16 (44,4%) were male, with a mean age of 41.55 ± 39.22 (3-192) months. The most common symptoms were fever (66.7%), weakness (66.7%), loss of appetite (66.7%), fatigue (61.1%), vomiting (61.1%), and diarrhea (47.2%). Six (16 %) children had acute hepatic failure. Eight of the 15 children (46%) had respiratory viral infections (rhinovirus/enterovirus, n = 4; rhinovirus + parainfluenza, n = 1; parainfluenza, n = 1, SARS-CoV-2 n = 2). Adenovirus was detected in 16 (44%) patients. Adenovirus and coinfections were detected in 7 patients. History of diarrhea and fatigue in the last month was significantly higher in the adenovirus group ( P = 0.023 and 0.018). One child who had both adenovirus and rhinovirus infection required liver transplantation; all others recovered with supportive care.
There were no deaths in our series; however, the number of cases, etiology, and severity of the clinical course may have differed between countries owing to differences in case definitions, laboratory facilities, or regional genetic differences.
Cubic boron nitride (cBN) is a relatively less studied wide bandgap semiconductor despite its many promising mechanical, thermal, and electronic properties. We report on the electronic, structural, ...and optical characterization of commercial cBN crystal platelets. Temperature dependent transport measurements revealed the charge limited diode behavior of the cBN crystals. The equilibrium Fermi level was determined to be 0.47 eV below the conduction band, and the electron conduction was identified as n-type. Unirradiated dark and amber colored cBN crystals displayed broad photoluminescence emission peaks centered around different wavelengths. RC series zero phonon line defect emission peaks were observed at room temperature from the electron beam irradiated and oxygen ion implanted cBN crystals, making this material a promising candidate for high power microwave devices, next generation power electronics, and future quantum sensing applications.
ObjectiveFood protein-induced enterocolitis syndrome (FPIES) is a non–IgE-mediated gastrointestinal food hypersensitivity manifesting as profuse repetitive vomiting, often with diarrhea. FPIES ...consists of two types, acute and chronic. In the acute type, ingestion of triggering foods induces vomitting, diarrhea, lethargy, and hypotension in up to 4 hours. Episodes can last 24 hours, and both vomiting and systemic symptoms benefit from ondansetron. In the chronic type, there is vomitting and diarrhea, but the time between ingestion and symptoms is longer and the presentation milder. Mild but persistent vomitting and diarrhea cause malnutrition and hypoalbuminemia. Diagnosis is based on clinical symptoms and confirmed via positive food challenge. Symptoms resolve after elimination of triggering foods and recur with re-exposure. This report aims to review the presentation of FPIES using a case-driven approach.CASEFemale 1-year-old admitted with repetitive, projectile emesis, and diarrhea. Symptoms subside after 24 hours with iv fluid resuscitation, and vomitting began with complementary food. Initially diagnosed with a cow milk allergy, but after ingesting bread, she had another attack. This attack lead to a diagnosis of Celiac disease, and she was prescribed a gluten-free diet.After ingesting gluten free pasta, she had another attack with loss of consciousness. After fluid resusitation, laboratory tests including anti-endomysium IgA, cow-milk IgE, wheat IgE, egg yolk IgE, Immunoglobulins, and ANCA were normal. Esophagogastroduodenoscopy and colonoscopy were normal, with a pathology report of mucousal fragments including lenfoid follicules. An oral food challange with possible triggering foods was then performed. The patient was admitted, and a peripheral intravenous line was placed. After 30 minutes of feeding with rice, vomitting with diarrhea presented with tachycardia and hypotension. Furthermore, her neutrophil count was increased. IV saline fluid bolus, IV ondansetron, and IV methylprednisolone were administered. Emesis stopped, and abdominal pain subsided within 30 minutes. After 24 hours, all symptoms subsided. With a diagnosis of acute FPIES, she was discharged with strict dietary restrictions as well as future food challange plans for other possible triggering foods.ConclusionFPIES is often misdiagnosed as an acute viral gastrointestinal illness, sepsis, or anaphylaxis, and a diagnosis of FPIES can often be delayed for months. As in this case, dely in diagnosis lead to unnecessary diagnostic evaluations and erroneous treatments. After diagnosis is approved with an oral food challange, prognosis is good. However, avoiding offending foods and appropriate episode management requires hard work from both the families and the health personel.
Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by lipoatrophy affecting the face, limbs and trunk, acromegaloid features, hepatomegaly, hypertriglyceridemia, and insulin ...resistance. The aim of this study is to evaluate the long-term follow-up findings including gastrointestinal and cardiac manifestations of the patients with CGL1 and CGL4, caused by mutations in the AGPAT2 and CAVIN1 genes, respectively. Two patients aged 2 and 9 years with the same biallelic CAVIN1 mutation and five patients aged between 6 months and 11 years 4 months with AGPAT2 mutations have been followed up for 3–9 years. The patients were between 7 and 20 years of age at their last examination. One of the two patients with CGL4 had congenital pyloric stenosis. The other patient with CGL4 have developed recurrent duodenal perforations which have not been reported in CGL patients previously. The pathological examination of duodenal specimens revealed increased subserosal fibrous tissue and absent submucosal adipose tissue. None of the five CGL1 patients had gastrointestinal problems. Two patients with CGL4 developed hypertrophic cardiomyopathy (HCMP) and severe cardiac arrhythmia, only one patient with CGL1 had HCMP. Hyperinsulinemia was detected in one patient with CGL4 and three patients with CGL1, these three CGL1 patients also had acanthosis nigricans. Hepatic steatosis was detected in one patient with CGL4 and two patients with CGL1 by ultrasonography. In conclusion, these findings suggest that CGL4 patients should also be carefully followed up for gastrointestinal and cardiac manifestations.
Congenital heart defects occur in approximately 50% of children with Down syndrome and they contribute considerably to morbidity and mortality. The aim of this study is to investigate the prevalence, ...classification, and survival of congenital heart defects in Down syndrome.
About 1731 Down syndrome patients who underwent echocardiography between 1986 and 2022 were evaluated. The median follow-up duration was 8.7 years (range 1-35.8 years). Congenital heart defect was grouped as cyanotic and acyanotic.
Among the 1731 patients, 52.1% had congenital heart defects. Congenital heart defect was significantly more common in females than males. The most common cardiac defect was ventricular septal defect (35%), followed by atrial septal defect (31.8%), atrioventricular septal defect (23.4%), tetralogy of Fallot (5%), and patent ductus arteriosus (3.6%). In the follow-up, 43.2% of atrial septal defect, 17.8% of ventricular septal defect, and a total of 20% of congenital heart defects were closed spontaneously. About 34.4% of congenital heart defect was corrected by cardiac surgery/intervention. Five-year survival rate was 97.4% in patients without congenital heart defects, whereas it was 95.6% in mild congenital heart defects and 86.1% in moderate to severe congenital heart defects. There was no relationship between consanguinity, parental age, maternal disease, folic acid supplementation before/during pregnancy, gestational age, birth weight, and congenital heart defects. Neuromotor development was similar in patients with and without congenital heart defects.
We demonstrated that almost half of the patients had congenital heart defects; ventricular septal defect was the most common congenital heart defect type. This study is valuable in terms of the largest single-center study describing the classification, prognostic factors, and survival of Down syndrome patients with congenital heart defect from Turkey.
High-quality single-crystalline Ge nanowires with electrical properties comparable to those of bulk Ge have been synthesized by vapor-liquid-solid growth using Au growth seeds on SiO(2)/Si(100) ...substrates and evaporation from solid Ge powder in a low-temperature process at crucible temperatures down to 700 °C. High nanowire growth rates at these low source temperatures have been identified as being due to sublimation of GeO from substantial amounts of GeO(2) on the powder. The Ge nanowire synthesis from GeO is highly selective at our substrate temperatures (420-500 °C), i.e., occurs only on Au vapor-liquid-solid growth seeds. For growth of nanowires of 10-20 µm length on Au particles, an upper bound of 0.5 nm Ge deposition was determined in areas of bare SiO(2)/Si substrate without Au nanoparticles.
One-dimensional aggregates of CdTe nanoparticles were prepared by an exceptionally simple method of self-assembly initiated by partial removal of the stabilizing shell. The driving force of the ...particle self-organization is likely to be the dipole−dipole attraction between the nanoparticle cores. The obtained nanoparticle chains can be easily transferred on any substrate. Steady-state and time-resolved luminescent spectroscopes revealed strong Forster resonance energy transfer (FRET) between the particles, which led to the migration of excitation along the chain similarly to the waveguiding of light observed for chains of metal nanoparticles. The efficiency of FRET quenching in this one-dimensional system is comparable to that in three-dimensional packed nanoparticle solids despite a substantially smaller number of adjacent particles. The strong coupling of the donor and acceptor excited states is likely due to short inter-nanoparticle distances and partial ground-state dipole alignment taking place during the chain formation.
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