Mikobakteriyel hastalıklara mendel duyarlılığı hastalarının genetik ve klinik profili; tek merkez deneyimi

Objective: Mendelian susceptibility to mycobacterial disease (MSMD) is a subgroup of primary immunodeficiencies which develops with the Bacille Calmette–Guérin (BCG) vaccine or non-tuberculous mycobacterial infections. The clinical symptoms have a broad spectrum, from localized to disseminated infections. Materials and Methods: Herein, we performed whole-exome sequencing (WES) on 13 patients with MSMD phenotype. All variants were confirmed by Sanger sequencing. The mean age was 8.41 years (min 3 – max 14 years), and the mean age of symptom onset was 4.6 years in our cohort. Results: We found previously identified IFNGR1 (n=1), IFNGR2 (n=1), TYK2 (n=1), IL12RB1 (n=1), and CYBB (n=1) gene variants in nine patients. Our patients mostly suffered from lymphadenitis (61.5%), osteomyelitis (38%), and miliary tuberculosis (31%). All patients except one had had the BCG vaccination. Two patients developed BCGitis after vaccination. Three patients suffered from disseminated BCG infection (BCGosis). Conclusion: Our findings show the importance of molecular diagnosis in patients with severe infections as an approach for understanding the genetic basis of infectious diseases and deciding on treatment options. The deficiency of IFN-mediated immunity genes plays a crucial role in the pathogenesis of MSMD and must be considered in pediatric patients with BCGitis.Amaç: Mikobakteriyel hastalığa (MSMD) Mendel duyarlılığı, Bacille Calmette-Guérin (BCG) aşısı veya tüberküloz dışı mikobakteriyel enfeksiyonlarla gelişen primer immün yetmezliklerin bir alt grubudur. Klinik semptomlar, lokalize enfeksiyondan yayılmış enfeksiyona kadar geniş bir spektruma sahiptir. Gereç ve Yöntem: Bu çalışmada; MSMD fenotipli 13 hastada tüm ekzom dizileme (WES) yaptık. Tüm varyantlar Sanger dizileme ile doğrulandı. Bizim kohortumuzda ortalama yaş 8.41 yıl (en az 3 – en fazla 14 yıl) ve ortalama semptom başlangıç yaşı 4.6 idi. Bulgular: Dokuz hastada; IFNGR1 (n=2), IFNGR2 (n=1), TYK2 (n=1), IL12RB1 (n=1) ve CYBB (n=1) gen varyantları bulduk. Hastalarımızda en çok lenfadenit (%61,5), osteomiyelit (%38) ve miliyer tüberküloz (%31) mevcuttu. Biri hariç tüm hastalara BCG aşısı yapıldı. İki hastada aşılamadan sonra BCGitis gelişti. Üç hasta, yayılmış BCG enfeksiyonundan (BCGosis) muzdaripti. Sonuç: Bulgularımız, enfeksiyon hastalıklarının genetik temelinin anlaşılmasında ve tedavi seçeneklerine karar verilmesinde bir yaklaşım olarak ağır enfeksiyonlu hastalarda moleküler tanının önemini göstermektedir. IFN aracılı bağışıklık genlerinin eksikliği, MSMD’nin patogenezinde çok önemli bir rol oynar ve BCGitis’li pediatrik hastalarda düşünülmelidir

Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI

PURPOSElthough clinical ophthalmologic findings have been reported, no study documented magnetic resonance imaging (MRI) findings in mucopolysaccharidosis (MPS) type VI. The aim of this study was to determine the ophthalmologic imaging findings of MPS type VI in the pediatric age group retrospectively.METHODSBrain MRIs of 10 patients with MPS type VI and 49 healthy children were evaluated independently by two pediatric radiologists for the following characteristics: globe volume, ocular wall thickness, and optic nerve sheath diameter for each orbit. The means of the measurement of each group were compared by using an independent t-test. Agreement and bias between reviewers were assessed by intra-class correlation coefficients (ICC).RESULTSA total of 59 children [32 girls (54.23%), 27 boys (45.77%); age range, 4-16 years; mean age, 10.37 ± 3.73 years] were included in the study. Statistical analysis revealed smaller eyeballs and thicker ocular walls of patients with MPS type VI (P < .001 and P < .001, respectively). However, there was no statistically significant difference in terms of optic nerve sheath diameter between the two groups (P=.648).CONCLUSIONPatients with MPS type VI displayed reduced globe volumes and increased ocular wall thicknesses compared to the healthy children. Therefore, we recommend that ophthalmologic imaging findings might prove to be an auxiliary tool in the diagnosis of MPS patients

Metabolic dysfu nctio n-As socia ted fatty liver disease and fibrosis status in patients with Type 2 Diabetes Treated at Internal medicine clinics: Türkiye DAHUDER awareness of fatty liver disease (TR-DAFLD) study

Background/Aims: This awareness study aimed to determine the ultrasound (US) examination rates in relation to US-confirmed metabolic dysfunction-associated fatty liver disease (MAFLD) diagnosis in internal medicine outpatients with type 2 diabetes (T2D) across Turkiye. Materials and Methods: A total of 6283 T2D patients were included in this multicenter retrospective cohort study conducted at 17 internal medicine clinics across Turkiye. The presence and indications for US performed within the last 3 years were recorded along with US-confirmed MAFLD rates, laboratory findings on the day of US, and referral rates. Fibrosis-4 (FIB-4) index was calculated to estimate the risk of advanced liver fibrosis (FIB-4 index ≥ 1.3). Results: Overall, 1731 (27.6%) of 6283 patients had US examination, which revealed MAFLD diagnosis in 69.9% of cases. In addition, 24.4% of patients with US-confirmed MAFLD were at risk of advanced fibrosis (FIB-4 index ≥ 1.3), and the referral rate was 15.5%. Conclusion: In conclusion, our findings emphasize an insufficient MAFLD awareness among clinicians and the likelihood of most of T2D patients to be at risk of living with an unknown status regarding their MAFLD and advanced fibrosis ris

Relationship Between Work-Family Conflict and Turnover Intention in Nurses: A Meta-Analytic Review

Abstract Aim: This meta-analytic review aimed to synthesize and analyze studies that explored the relationship between nurses’ work-family conflicts and turnover intentions. Design: This meta-analytical review was conducted according to the Joanna Briggs Institute guidelines and PRISMA checklist. Data Sources: A total of 191 (k =14) publications published between 2005−2019 in English, including grey literature on turnover intention and work-family conflict, were retrieved from PubMed, PsycINFO, Web of Science, ProQuest, and Scopus databases Review Methods: Studies on the relationship between work-family conflict and turnover intention were summarized. Results: An overall effect size of r = .28 (N = 5781, 95% CI [.23 − .33]) was obtained, indicating a moderate, positive, and significant relationship between work-family conflict and turnover intention. The moderator analysis showed that individualism and long-term orientation accounted for 90 % of effect size heterogeneity of work-family conflict and turnover intention relationship. Conclusion: Exploring the correlation between work-family conflict and turnover intention can provide guidelines and recommendations for the development of strategies to promote nurse retention and alleviate the nursing shortage. National culture, particularly individualism and long-term orientation, were found to play a significant moderator role in this relationship. Cultures that are highly individualistic and have a long-term orientation have a diminishing effect on the relationship between work-family conflict and turnover intention. Impact: Work-family conflict and turnover intention are significantly correlated factors regardless of the studies' cultural characteristics examined in this study. Policymakers and managers should consider this finding and develop strategies that organize a balance-oriented work design to prevent nurse shortage

Quantitative detection of chicken and beef meat from meat products by Real-Time PCR

Et ürünleri üretiminde kullanılan et türlerinin tür bazında ve oransal olarak doğru belirlenmesi tüketicinin alda- tılmasının önlenmesi, halk sağlığının korunması ve üreticiler arası haksız rekabetin önlenmesi açısından büyük önem taşımaktadır.Yapılan bu çalışmada, hem tür analizi hem de kantitatif analiz yapabildiği üretici firma tarafından ifade edilen SureFood Animal QUANT Beef ve SureFood Animal QUANT Chicken real- time PCR kitleri kullanılmştır. Çalışmada deneysel olarak belirli oranlarda (%10 sığır eti + %90 tavuk eti, %20 sığır eti + %80 tavuk eti, %30 sığır eti + %70 tavuk eti, %50 sığır eti + %50 tavuk eti, %20 tavuk eti + %80 sığır eti, %30 tavuk eti + %70 sığır eti olmak üzere) sığır eti + tavuk eti karışımlarının yanı sıra farklı oranlarda sığır ve tavuk etinden hazırlanmış et ürünleri (salam, sosis ve sucuk) test materyali olarak kullanılmıştır. Et karışımlarından ve et ürünlerinden DNA ekstraksiyon işlemleri SureFood Prep Animal DNA ekstraksiyon kiti (Congen S 1003, Berlin, Almanya) ile yapılmıştır. DNA ekstraksiyonunu takiben Real-Time PCR tekniği ile et oranları tayin edilmeye çalışılmıştır. PCR analizleri Light Cycler-2 (Roche) cihazında ger- çekleştirilmiştir. Çalışma sonuçlarına göre, kullanılan SureFood Animal QUANT Beef and SureFood Animal QUANT Chicken real-time PCR kitlerinin deneysel olarak farklı oranlarda sığır ve tavuk etinden hazırlanmış et karışımları ile yine çeşitli sığır ve tavuk eti karışımlarından yapılan salam, sosis ve sucuk örneklerinde sığır ve tavuk eti oranlarını kantitatif olarak doğru tespit edemediği ortaya konulmuştur.Quantitative detection of meat species that are used in production of meat products has a great importance for preventing consumers from adulteration, protection of public health and prevention of unfair competition between producers. In this study, SureFood Animal QUANT Beef and SureFood Animal QUANT Chicken real-time PCR kits were used to detect meat species quantitatively. For this purpose, various proportions (10% bovine + 90% chicken, 20% bovine + 80% chicken, 30% bovine + 70% chicken, 50% bovine + 50% chicken, 80% bovine + 20% chicken, 70% bo- vine + 30% chicken) of bovine and chicken meat mixtures and meat products (salami, sausage and sucuk from different bovine + chicken meat) were experimentally prepared. After DNA extraction process of these meat mixtures and prod- ucts, Real-Time PCR technique was used for the quantitative detection of meat species. SureFood Prep Animal DNA extraction kit (Congen S 1003, Berlin, Germany) was used for the extraction of DNA from mixtures. PCR analyses were carried out with Light Cycler-2 (Roche, Germany). According to the real-time PCR results, SureFood Animal QUANT Beef and SureFood Animal QUANT Chicken kits were not able to detect the rates of meat species in meat mixtures (beef and chicken) and meat products (salami, sausage and sucuk) accurately

Histological analysis of meat products

Bu çalışmada, 2011 ile 2012 yıllarında Veteriner Kontrol Merkez Araştırma Enstitüsü Gıda Kontrol Laboratuarına gönderilen 842 et ürününün (salam, sosis, sucuk ve ısı işlemi görmüş sucuk) bileşiminde doku ve iç organ varlığının histolojik muayene ile belirlenmesi amaçlanmıştır. Yapılan histolojik analizler neticesinde 2011 yılında incelenen 393 örneğin 45’inde (%11,5), 2012 yılında 449 örneğin 66’sında (%14,7) başta kıkırdak doku ve deriye ait epitel doku olmak üzere iç organlara ait hücresel yapılar tespit edilmiş olup toplam 842 örnekten 111’inin (%13,2) ulusal standartlara uygun olmadığı belirlenmiştir.The aim of this study was to detect tissue and internal organs in 842 meat products (salami, sausage and heat-treated sucuk) that were send to Veterinary Control Central Research Institute Food Control Laboratory in 2011 and 2012 by histological analyze. According to the histological analysis in 2011, 45 (11.5%) of the 393 samples and in 2012, 66 (14.7%) of the 449 samples, cartilage tissue, skin epithelial tissue and various internal organ cells were detected. In the study, 111 (13,2 %) out of 842 meat products were not appropriate to national standards

The Evaluation of Leukoaraiosis Etiopathogenesis with MR-Spectroscopy

OBJECTIVE: Leukoaraiosis (LA), is a radiological finding with bilateral, either patchy or diffuse areas of the cerebral white matter.We aimed to determine proton MRS findings of LA and compare to those with chronic ischemic infarcts and control subjects, in order to understand the metabolic changes in LA. METHODS: We compared 25 patients with LA, 10 patients with chronic ischemic infarct and 9 control subjects without LA. Ratios for n-acetyl aspartate (NAA)/creatine (Cr) and myoinositol (MI)/Cr were obtained from leukoaraiotic area, chronic ischemic infarct and normal white matter. For the cognitive impairment Minimental Status Examination (MMSE) was applied to all individuals. RESULTS: Between LA and normal white matter, NAA/Cr values were shown no statistically significant difference. MI/Cr value of LA was significantly increased when compared with normal white matter (0.72±0.22 to 0.59±0.15; p<0.0001). NAA/Cr value of chronic ischemic infarct was significantly reduced when compared with both normal white matter (0.68±0.64 to 1.47±0.11; p<0.01) and leukoaraiotic area (0.68±0.64 to 1.70±0.28; p<0.01). MMSE scores of leukoaraiotic patients were significantly decreased when compared with control subjects (p<0.01). CONCLUSION: Nonsignificant changes in NAA concentrations and high MI values of LA, indicate that gliosis is the major pathological finding. Because of the risk factors that disturbing arterioler structure in LA, altered cerebral blood flow autoregulation seems to contribute to develop gliosis before neuronal or axonal los

Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI.

PURPOSE lthough clinical ophthalmologic findings have been reported, no study documented magnetic resonance imaging (MRI) findings in mucopolysaccharidosis (MPS) type VI. The aim of this study was to determine the ophthalmologic imaging findings of MPS type VI in the pediatric age group retrospectively. METHODS Brain MRIs of 10 patients with MPS type VI and 49 healthy children were evaluated independently by two pediatric radiologists for the following characteristics: globe volume, ocular wall thickness, and optic nerve sheath diameter for each orbit. The means of the measurement of each group were compared by using an independent t-test. Agreement and bias between reviewers were assessed by intra-class correlation coefficients (ICC). RESULTS A total of 59 children [32 girls (54.23%), 27 boys (45.77%); age range, 4-16 years; mean age, 10.37 ± 3.73 years] were included in the study. Statistical analysis revealed smaller eyeballs and thicker ocular walls of patients with MPS type VI (P &lt; .001 and P &lt; .001, respectively). However, there was no statistically significant difference in terms of optic nerve sheath diameter between the two groups (P=.648). CONCLUSION Patients with MPS type VI displayed reduced globe volumes and increased ocular wall thicknesses compared to the healthy children. Therefore, we recommend that ophthalmologic imaging findings might prove to be an auxiliary tool in the diagnosis of MPS patients