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

Omurga aparatlarının modellenmesi ve analizi

Bu tezde bilgisayarlı tomografi görüntüleri alınan hastaların dicom verilerini kullanarak hasarlı omurları üç boyutlu hale getirerek modellemek ve ölçülere göre modüler cage tasarımı geliştirmek incelenmiştir. Bir örnek çalışma 3Ddoctor programı kullanarak 3 nolu lomber omurunda yapılmıştır. 3D haline getirilmiş omur iges formatına dönüştürerek Ansys paket programın aktarılmış ve modelin sonlu elemanlar analizi incelenmiştir. Bu aşamada üç yeni cage modeli tasarlanmış ve katı modelleri oluşturulmuştur. Tasarımı yapılan cageʼlerin ortak özelliği yüksekliklerinin ayarlanabilir olmasıdır. Cage malzemesi olarak Ti-6Al-4V seçilmiştir. Bu malzemenin mekanik özellikleri kullanılarak cagelerin Ansys programında sonlu elemanlar analizleri incelenmiştir

Observation Of Stress Distribution On a 3D Wrist Model After Scaphoid Fracture

19th National Biomedical Engineering Meeting (BIYOMUT) -- NOV 05-06, 2015 -- Istanbul, TURKEYWOS: 000380507300016Scaphoid bone fractures are very often among carpus fractures. However, sacphoid fractures are diagnozed tardily. So, this lateness changes the treatment prognosis. Kirschner wires are mostly preffered because of its easiness of use as scaphoid fracture detection materials. Aim of this study is analyzing the stress distrubution of wrist and the change of total deformation before and after scaphoid fractures and also after the application of Kirschner wire. Segmentation process was done on CT images of wrist and 3D "stl" model was obtained and converted to solid model and finite element analysis were performed to realise this study. Metacarpal, carpas, radius and ulna bones were linked as linear arc before the analysis. Afterwards, total stress distrubution and deformation were analyzed according to applied forces on metacarpal bones of fixed radius and ulna bones. By regarding the finite element analysis results, von-Misses stress distrubution were found 240,62 MPa before scaphoid fracture, 338,27 MPa after scaphoid fracture and 2678,1 MPa with after Kirschner wire application. Consequently, stress accumulation were observed on both scaphoid bone and Kirschner wire after scaphoid fracture. After this study, different fixation methods should be compared under same boundry conditions and then the most suitable fixation method may be determined. Moreover, it is encouraging that the most suitable personel implant designs may be done by using engineering approaches mentioned in this study

Detennination of erythrocyte potassium and glutathione polymorphism in Saanen, Maltese and Turkish hair goats

Main purpose of this study was to investigate genetic polymorphisms of Saanen (S), Maltese (M) and Turkish Hair (TH) goats based on erythrocyte potassium and glutathione types. It was also designed to detect the association between these components and some blood parameters depending on the breed comparisons. The phenotypic and alleles frequencies were calculated for potassium and glutathione types of all three breeds. The difference between low and high potassium (LK and HK, respectively) types for the means of erythrocyte potassium concentration (K-e) were statistically important for all breeds (p<0.01). The significant relationships between erythrocyte potassium types and blood parameters of erythrocyte sodium (Na-e), whole blood potassium (K-wb), plasma potassium (K-p), erythrocyte potassium (K-e) were observed for S and TH goats. On the other hand, the important relationships were detected between erythrocyte potassium types and blood parameters of whole blood sodium (Na-wb), Na-e K-wb, K-p, K-e, total monovalent cation concentration in erythrocyte (Na-e+K-e) for M goat breed (p<0.05). The correlation coefficient between Na-e and K-e blood parameters was important and it was ranged from -0.26 to -0.34. In addition, Maltese goat breeds had a higher K-e than the others but Na-e was higher in TH goats. Even if parity and birth type differences were not statistically important for all blood parameters, there was indication of significant differences for these values except hematocrit value (PCV), Na-p and GSH concentrations depending on the potassium types within breed (p<0.05) and also among all breed analyses (p<0.001)

Detennination of erythrocyte potassium and glutathione polymorphism in Saanen, Maltese and Turkish hair goats

Main purpose of this study was to investigate genetic polymorphisms of Saanen (S), Maltese (M) and Turkish Hair (TH) goats based on erythrocyte potassium and glutathione types. It was also designed to detect the association between these components and some blood parameters depending on the breed comparisons. The phenotypic and alleles frequencies were calculated for potassium and glutathione types of all three breeds. The difference between low and high potassium (LK and HK, respectively) types for the means of erythrocyte potassium concentration (Ke) were statistically important for all breeds (p&lt;O.Ol). The significant relationships between erythrocyte potassium types and blood parameters of erythrocyte sodium (Nae), whole blood potassium (Kwb), plasma potassium (Kp), erythrocyte potassium (Ke) were observed for S and TH goats. On the other hand, the important relationships were detected between erythrocyte potassium types and blood parameters of whole blood sodium (Nawb), Nae, KwbKp Ke, total monovalent cation concentration in erythrocyte (Nae+Ke) for M goat breed (p&lt;0.05). The correlation coefficient between Na, and K, blood parameters was important and it was ranged from -0.26 to -0.34. In addition, Maltese goat breeds had a higher K, than the others but Na, was higher in TH goats. Even if parity and birth type differences were not statistically important for all blood parameters, there was indication of significant differences for these values except hematocrit value (peV), N~ and GSH concentrations depending on the potassium types within breed (p&lt;0.05) and also among all breed analyses (p&lt;O.OOI). © Medwell Journals, 2011

Determination of Erythrocyte Potassium and Glutathione Polymorphism in Saanen, Maltese and Turkish Hair Goats

Main purpose of this study was to investigate genetic polymorphisms of Saanen (S), Maltese (M) and Turkish Hair (TH) goats based on erythrocyte potassium and glutathione types. It was also designed to detect the association between these components and some blood parameters depending on the breed comparisons. The phenotypic and alleles frequencies were calculated for potassium and glutathione types of all three breeds. The difference between low and high potassium (LK and HK, respectively) types for the means of erythrocyte potassium concentration (K-e) were statistically important for all breeds (p<0.01). The significant relationships between erythrocyte potassium types and blood parameters of erythrocyte sodium (Na-e), whole blood potassium (K-wb), plasma potassium (K-p), erythrocyte potassium (K-e) were observed for S and TH goats. On the other hand, the important relationships were detected between erythrocyte potassium types and blood parameters of whole blood sodium (Na-wb), Na-e K-wb, K-p, K-e, total monovalent cation concentration in erythrocyte (Na-e+K-e) for M goat breed (p<0.05). The correlation coefficient between Na-e and K-e blood parameters was important and it was ranged from -0.26 to -0.34. In addition, Maltese goat breeds had a higher K-e than the others but Na-e was higher in TH goats. Even if parity and birth type differences were not statistically important for all blood parameters, there was indication of significant differences for these values except hematocrit value (PCV), Na-p and GSH concentrations depending on the potassium types within breed (p<0.05) and also among all breed analyses (p<0.001)

PSYCHOMETRIC PROPERTIES OF THE TURKISH VERSION (AYTA-TR) OF THE WHO-EUROPE ATTITUDES OF AGING (EAAQ) QUESTIONNAIRE

Introduction: This study was carried out for psychometric analysis of the Turkish version of the WHO - Atittudes of Aging Questionnaire (AAQ)