Hematopoietic stem cell transplantation in patients with severe combined immunodeficiency: A single-center experience

Objective: The aim of this study was to determine the factors affecting outcomes in patients who underwent hematopoietic stem cell transplantation (HSCT) with the diagnosis of severe combined immunodeficiency (SCID). Furthermore, our aim is to share our singlecenter experience of HSCT among SCID patients. Materials and Methods: The data of patients who underwent HSCT with the diagnosis of SCID between January 2014 and January 2021 in the pediatric bone marrow transplant unit of Istanbul Medipol University were retrospectively analyzed. Demographic and clinical data, treatment regimens, donor source, type of transplantation, pre- and post-transplantation infections, and complications were evaluated. Results: Among fifteen patients who underwent HSCT, 5 (33%) were female. The mean age at diagnosis was 3 months (1-6 months), and at transplantation 6 months (3-10 months). The mean time from diagnosis to transplantation was 3 months (2-9 months). There was a history of consanguineous marriage in thirteen (87%) and sibling death in eight (53%) cases. As donors, six (40%) were siblings and five (33%) were unrelated, while four (27%) patients underwent haploid transplantation. Four (27%) patients died during the first 100 days of transplantation. The median follow-up period was 23 months (9-61 months). Overall survival probability was calculated as 73%. Conclusion: SCID should be considered as an emergency in pediatrics. Devastating complications, including severe organ damage, lifethreatening infections, and even death, could appear in case of diagnostic delay. HSCT is a currently available curative treatment option. Subjects with a confirmed diagnosis should be referred to the appropriate bone marrow transplant center and treated as soon as possible

Lösemili pediyatrik hastalarda hematopoetik kök hücre transplantasyonu sonrası graft versus host hastalığı ve sağkalımda insan lökosit antijenlerinin etkisi

Objective: Hematopoietic stem cell transplantation (HSCT) is an important therapy for hematological diseases. One of the most significant complications of HSCT is graft versus host disease (GVHD), and major histocompatibility complex (MHC) is well known to affect GVHD and graft rejection. This study aimed to examine the effect of human leukocyte antigens (HLA) on the incidence of GVHD development in patients with leukemia. Methods: The association between HLA and GVHD formation was evaluated in 57 patients with HSCT with HLA-identical sibling donors, of whom 37 were boys and 20 were girls with a mean age of 10.11 years. All patients were diagnosed with leukemia; acute myeloid leukemia (n=33), acute lymphoblastic leukemia (n=15), and chronic myeloid leukemia (n=9). Transplantation pairs were worked for HLA-A, -B, -C, and -DRB1 alleles. Class I HLA antigens were investigated using Terasaki microlymphocytotoxicity, whereas class II HLA alleles with polymerase chain reaction - sequence-specific amplification method. Results: The frequency of developing GVHD in patients with HSCT was found to be 17.5% (n=10). HLA-DRB1∗04 allelic frequency [p=0.024, odds ratio (OR): 4.87] was found to be higher in patients who developed GVHD. However, the HLA-DRB1∗11 allelic frequency (p=0.031, OR: 0.12) was lower in patients who developed GVHD compared to patients who did not develop GVHD. Furthermore, HLA-B38 (p=0.002) and HLA-B41 (p=0.002) antigens were found only in patients who developed GVHD. The frequencies of the HLA-A26 allele (p=0.12) and the HLADRB1∗11 allele (p=0.037, OR: 4.0) were higher in patients with relapse after HSCT; however, the frequencies of the HLA-A2 allele (p=0.033, OR: 0.19) was lower in patients who relapsed after HSCT. Conclusion: This study assessed the relationship of HLA class with GVHD, relapse, and survival in children after HSCT in pediatric patients with leukemia.Amaç: Hematopoetik kök hücre nakli (HKHN), hematolojik hastalıklar için önemli bir tedavidir. HKHN’nin en önemli komplikasyonlarından biri, graft-versus-host hastalığıdır (GVHH) ve büyük doku uyumluluk kompleksinin (major histocompatibility complex-MHC) GVHH ve greft reddini etkilediği iyi bilinmektedir. İnsan lökosit antijenleri (human leukocyte antigen - HLA) tipinin lösemili hastalarda GVHH insidansı üzerindeki etkisini incelemeyi amaçladık. Gereç ve Yöntem: HLA uyumlu kardeş donörleri ile HKHN olan 57 hastada HLA ve akut, kronik GVHH oluşumu arasındaki ilişki değerlendirildi. Çalışmaya yaş ortalaması 10,11 olan 37 erkek ve 20 kız dahil edildi. Tüm hastaların tanıları; Akut myeloid lösemi (n=33), akut lenfoblastik lösemi (n=15), kronik myeloid lösemi (n=9) idi. Tüm nakil kardeş çiftleri HLA-A, -B, -C, -DRB1 allelleri için tiplendirildi. Sınıf I HLA antijenleri Terasaki mikrolenfositotoksisite kullanılarak saptandı ve sınıf II HLA allelleri polimeraz zincir reaksiyonu-diziye özgü primerler (polymerase chain reaction with specific primer sequence) yöntemi ile analiz edildi. Bulgular: HKHN uygulanan hastalar arasında GVHH insidansı %17,5 (n=10) olarak bulundu. HLA-DRB1*04 allelik frekansı [p=0,024, risk oranı (OR): 4,87] GVHH gelişen hastalarda daha yüksekti. Bununla birlikte, HLA-DRB1*11 allelik frekansı (p=0,031, OR: 0,12), GVHH gelişen hastalarda, GVHH geliştirmeyen hastalara göre daha düşüktü. Ayrıca, HLA-B38 (p=0,002) ve HLA-B41 (p=0,002) antijenleri sadece GVHH gelişen hastalarda bulundu. HLA-A26 alelinin (p=0,12) ve HLA-DRB1*11 alelinin (p=0,037, OR: 4,0) frekansları daha yüksekken, HLA-A2 allelinin frekansları (p=0,033, OR: 0,19) HKHN sonrası nükseden hastalarda daha düşük olarak saptandı. Sonuç: Bu çalışma, lösemili pediatrik hastalarda HKHN sonrası çocuklarda HLA sınıfının GVHH, relaps ve sağkalım ile ilişkisini değerlendiren çalışmadır

Effect of cytokine genes in the pathogenesis and on the clinical parameters for the treatment of multiple myeloma

WOS: 000394527000002PubMed ID: 27611810In this study, we aimed to explore the association among gene variants of five cytokines, tumor necrosis factor alpha (TNF-alpha), transforming growth factor beta-1 (TGF-beta 1), interferon gamma (IFN-gamma), interleukin-6 (IL-6), and interleukin-10 (IL-10), and clinical parameters and prognosis in patients with multiple myeloma (MM) treated with novel therapeutic drugs in Turkish population for the first time except TNF-alpha. We analyzed five cytokine genes in 113 cases with MM and 113 healthy controls. Cytokine genotyping was performed by the polymerase chain reaction-sequence-specific primer method (PCR-SSP). AG genotype associated with high expression in TNF-alpha gene (-308) variant was found to be significantly higher (p = 0.019), and GG genotype associated with low expression in TNF-alpha gene (-308) variant was significantly lower in MM group as compared with controls (p = 0.012). IFN-gamma (+874) variant TT genotype was increased (p = 0.037), and AA genotype was decreased (p = 0.002) in MM group in contrast to controls. IFN-gamma (+874) T allele was higher inMMpatients compared with controls (OR = 1.985, p = 0.000), while A allele was significantly lower (OR = 0.5037, p = 0.0005). Multivariate analysis revealed that factors associated with 5-year overall survival (OS) were only IPI III (RR = 1.630, p = 0.018) and thrombocytopenia (RR = 2.207, Cox p = 0.021), while 5-year event-free survival (EFS) was associated with IPI III (RR = 1.524, p = 0.022), thrombocytopenia (RR = 2.902, p = 0.002), APSCT treatment (RR = 1.729, p = 0.035), and female gender (RR = 0.435, p = 0.002) with negative prognostic values. Our results suggested that TNF-alpha gene (-308) AG genotype and IFN-gamma (+874) TT genotype and T allele may have a role on MM, while other cytokines were not associated with the risk of MM

Cytokine gene polymorphism frequencies in Turkish population living in Marmara region

Objectives Sequence variants in cytokine genes are related to affect cytokine gene levels. In this study, it was aimed to examine eight single nucleotide polymorphisms (SNPs) in five cytokine genes (TNF-alpha, INF-gamma, IL-6, IL10, TGF-beta) for the Turkish population living in Marmara region and to reveal the genetic distance between the study group and other populations. Methods In this study, three-hundred unrelated healthy individuals were involved and all genotyping were performed by using sequence-specific primers PCR (PCR-SSP) method. The SNP data were analyzed for Hardy Weinberg equilibrium fit by calculating expected genotype frequencies and comparing them to the observed values using Arlequin software version 3.1. The genetic distances between the study group and other populations were calculated and a neighbor-joining tree was constructed by PHYLIP. Results The observed genotypes of TNF-alpha (-308), IFN-gamma (+874), TGF-beta (codon 10), and TGF-beta (codon 25) of the subjects were found to be similar with other populations investigated in this study. However, there is a significant frequency difference for IL-6 and IL-10 genotypes between populations. Conclusions The current population study provided more reference values for these polymorphisms and generated a control group to be used in further association studies especially for transplantation, GVHD, autoimmune and malign disease

Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis

Objectİive: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophagocytic lymphohistiocytosis patients. Materials and Methods: Medical records of 9 patients diagnosed with primary hemophagocytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retrospectively. Clinical, genetic, and laboratory characteristics, family histories, initial complaints, physical examination findings, age at diagnosis, treatment choices, and clinical follow-up of all patients were investigated. Results: The mean age at diagnosis was 11 months (range: 1.5 months to 17 years). Genetic analysis was performed in all patients, and a disease-related mutation was detected in 8 (89%) of them. Among clinical features, 6 (66%) patients had fever, 5 (56%) had splenomegaly, 4 (44%) had lymphadenopathy, 4 (44%) had skin rash, and 4 (44%) had neurological findings. Hemophagocytosis was observed in the bone marrow samples of 6 (66%) patients. Disease remission was achieved in 7 (78%) patients. Hematopoietic stem cell transplantation was performed in 7 (78%) patients. Conclusion: Hemophagocytic lymphohistiocytosis may present with different clinical symptoms that can cause a significant diagnostic delay. The only curative treatment option in primary hemophagocytic lymphohistiocytosis patients is hematopoietic stem cell transplantation. The chemotherapy should be started as early as possible, in order to achieve a disease remission. Patients should be referred to the appropriate bone marrow transplant center for hematopoietic stem cell transplantation as soon as they reach the disease remission

Hematopoietic stem cell transplantation and high dose chemotherapy in recurrent and/or chemotherapy resistant hodgkin lymphoma cases: A single center experience

Giriş: Standart tedavi alan Hodgkin Lymphoma (HL) hastalarının yaklaşık %20’sinde hastalık dirençli seyredebilir veya tekrar edebilir. Tekrar eden/ dirençli HL’da standart tedavi yüksek doz kemoterapi ve takip eden otolog kök hücre naklidir (OKHN). Otolog KHN sonrası tekrar eden hastalarda ise allojeneik kök hücre nakli (AKHN) önemli bir kurtarma tedavisi olarak görülmektedir. Amaç: Medipol Üniversitesi Tıp Fakültesi çocuk kemik iliği nakil ünitesinde OKHN ve AKHN yapılan hastalarda sonuçları değerlendirmek. Yöntem: Tekrar eden/dirençli HL nedeniyle 2014 Kasım ile Temmuz 2019 tarihleri arasında merkezimizde OKHN yapılan 18 olgu retrospektif olarak değerlendirilmiştir. Otolog KHN sonrası hastalığı tekrar eden ve AKHN yapılan hastalarda ayrıca değerlendirilmiştir. Bulgular: Onaltı hasta halen hayattadır. Onbir hastada OKHN sonrası has talık tekrar etmiştir. Relaps eden hastalardan 10’una AKHN yapılmıştır. Bu hastalardan üçünde tekrar görülmüş olup, sekizi nakil sonrası hayattadır lar.Background: Nearly 20% of patients with Hodgkin Lymphoma (HL) who receive standard treatment will relapse or have a refractory disease. Standard treatment for the Relapsed/Refractory (RR) HL is salvage high dose chemotherapy followed by autologous stem cell transplantation (AuSCT). Management of RR HL after AuSCT with allogeneic stem cell transplantation (ASCT) is also considered as an important salvage therapy. Objective: To describe the outcome in pediatric patients with RR HL who underwent AuHSCT and ASCT in Medipol University hematopoietic stem cell transplantation center. Method: We retrospectively evaluated 18 pediatric patients with RR HL who underwent AHSCT between November 2014 and July 2019. The evaluation of ASCT after RR HL AuSCT is also done. Results: Sixteen patients are still alive. Eleven of them relapsed after AuHSCT. AllogeneicHSCT was performed on 10 patients who relapsed. Relapse was seen in three patients after AHSCT. Eight of them are still alive

İç hastalıkları hemşireliği uygulama rehberi

İç Hastalıkları Hemşireliği: İç Hastalıkları ile ilgili gelişen temel bilgiler ve toplumun sağlık gereksinimleri doğrultusunda sağlıklı/hasta bireyin, ailenin, toplumun sağlığının korunması, geliştirilmesi, tedavi ve rehabilite edilmesine yönelik bilgi ve uygulamaları kapsar. Uygulamalı temel derslerden biri olan bu derste öğrencinin iç hastalıkları kapsamında yer alan tüm sistemlerle ilgili hastalılar konusunda bilgi sahibi olması ve bilgileri hasta bireyin bakım gereksinimlerinin karşılanmasında uygulayabilmesi hedeflenir. Uygulamalı eğitim sürecinde rehber kaynak kitaplar büyük önem taşır.İÇİNDEKİLER BÖLÜM 1. BAŞTAN AYAGA FİZİK MUAYENE 1.1. FİZİK MUAYENE 1.1.1. Fizik Muayene Araç-Gereçleri 1. 1.2. Baştan Ayağa Fizik Muayene 1.1.2.1. Mental Muayene 1.1.2.2. Beslenme 1.1.2.3. Saç, Deri ve Tırnaklar 1.1.2.4. Lenfatik Sistem 1.1.2.5. Baş-Boyun 1.1.2.6. Gözler 1. ı .2.7. Kulak-Burun-Boğaz 1.1.2.8. Göğüs ve Akciğerler 1.1.2.9. Kalp ve Damarlar 1 .1.2.1 O. Memeler 1 .1.2.11. Abdomen 1.1.2.12. Kadın Üreme Organları 1.1.2.13. Erkek Üreme Organları 1. ı .2.14. Anüs-Rektum ve Prostat 1.1.2.15. Hareket Sistemi 1.1.2:16. Nörolojik Sistem 1.2. BAŞTAN AYAGA MUAYENE (Özet) BÖLÜM 2. HASTALIKLAR VE BAKIM 2.1. Kronik Obstrüktif Akciğer Hastalığı 2.2. Tüberküloz 2.3. Miyokard Enfarktüsü 2.4. Kalp Yetersizliği 2.5. Demir Eksikliği Anemisi 2.6. Lösemi 2.7. Peptik Ülser 2.8. Hepatit 2.9. Siroz 2.10. Pankreatit 2.11. İnflamatuar Barsak Hastalıkları 2.12. Diabet 2.13. Hipertroidi 2.14. Nefrotik Sendrom 2.15. Böbrek Yetersizliği 2.16. Parkinson 2.17. İnme 2.18. HIV ve AIDS 2.19. Sistemik Lupus Eritematozus BÖLÜM 3. BİYOKİMYASAL TANI TESTLERİ VE BAKIM GİRİŞİMLERİ 4. İLAÇ GRUPLARI VE BAKIM GİRİŞİMLERİ 4.1. İnsülinler 4.2. Kortikosteroidler 4.3. Antİülserler 4.4. Vazodilatatörler 4.5. Diüretikler 4.6. Bronkodilatatörler 4.7. Nitrit Grubu İlaçlar 4.8. Antiaritmikler 4.9. Kalp Glikozitleri 4.10. Trombolitikler 4.11. Antikoagulanlar BÖLÜM 5. HEMŞİRELİK BAKIMI TANILAMA VE İZLEM FORMLARI (Örnek Formlar) BÖLÜM 6. KISALTMALAR VE KAYNAKLA

A preliminary association study in Turkish population: Do IL-17 and UCP2 gene variants contributes to the ethiology of microtia?

Annual Joint Meeting of the American-Society-for-Cell-Biology and the European-Molecular-Biology-Organization (ASCB/EMBO) -- DEC 02-06, 2017 -- Philadelphia, PAWOS: 000426664302068Counselling sessions with her family revealed that there were atleast four of her relatives suffering from the same symptoms. We draw a pedigree displaying three generations and consanguinity of the family and carried out a WES analysis to selected. Results revealed that, three severely affected family members had 1-bp insertion in the WNK1 gene and homozygous for the allele. This WNK1 gene was one of the candidate genes for HSAN type 2.American Society for Cell BiologyEuropean Molecular Biology Organization (EMBO

Cerrahi kliniğinde çalışan hemşirelerde tükenmişlik ve iş tatmini düzeylerinin belirlenmesi

Objective: The aim of this study was to assess the effect of sociodemographic and professional characteristics of nurses working in thesurgical services on their burnout and job satisfaction levels.Method: The study was conducted with 95 nurses, who were voluntary toparticipate in the study, among 104 nurses working in the surgical services(except for outpatient clinics and emergency surgery units). Introductoryinformation form, Maslach Burnout Inventory, and Minnesota SatisfactionQuestionnaire were used in order to collect the data. The statisticalanalysis was performed using frequency and percentage distribution,t-test, one-way analysis of variance, Tukey test, Kruskal-Wallis test, andMann-Whitney U test.Results: It was found that 78.9% of the nurses were female, 28.4% werein the age group of 30-34 years, 38.9% had a bachelor’s degree, 56.8%were single, 46.3% were working in the institution for 0-3 years, 57.9%had no children, 64.2% had an income equal to expenses, and 60% usedpublic transportation. It was observed that the emotional exhaustionand depersonalization subscale scores of the nurses were higher in theage group of 25-29 years than the age group of 20-24 years (p<0.05)and 40 years and over (emotional exhaustion p<0.01; depersonalization,p<0.05). It was determined that the depersonalization subscale scoresof those without children were higher than those having two and morechildren (p<0.05). Personal accomplishment subscale scores of thenurses working for 9-11 years were lower than the other groups. It wasobserved that those having a working year of 1-3 years had higher scoreson extrinsic satisfaction than those having a working year of 4-8 years(p<0.05). All score of nurses who chose the profession due to finding ajob quickly was significantly lower than the other groups (p<0.05). It wasdetermined that intrinsic, extrinsic and general satisfaction of those who had higher income than expenses, extrinsic and general satisfaction ofthose who came with shuttle, and job satisfaction, general satisfactionscore and subscale scores of those having two weeks of annual leavewere higher than those having annual leave of three weeks (p<0.05).Also, the burnout and job satisfactions of the nurses were moderate andthere was a negative correlation between the burnout and job satisfaction(p<0.05).Conclusion: It was observed that nurses which age group of 25-29years, without children, who worked for 9-11 years in the institutionburnout levels were high. At the same time, nurses which with higheconomic status, transporting with shuttle, who used a 2-week annualleave, who did not chose the profession due to finding a job quickly hadhigher job satisfaction. Organizing the regulations that will increase thework motivation of the nurses will reduce the emotional exhaustion anddepersonalization.Amaç: Bu çalışma, cerrahi servislerinde çalışan hemşirelerde sosyodemografik ve mesleki özelliklerin, tükenmişlik ve iş doyumu düzeylerine etkisinin değerlendirilmesi amacıyla yapıldı. Yöntem: Araştırma cerrahi servislerinde çalışan (poliklinikler ve acil cerrahi birimler dışında) 104 hemşireden çalışmaya katılmayı gönüllü olarak kabul eden 95’i ile gerçekleştirildi. Verileri toplamak amacıyla hemşirelere tanıtıcı bilgi formu, Maslach Tükenmişlik Ölçeği ve Minnesota Doyum Ölçeği uygulandı. İstatistiksel analizde; frekans ve yüzde dağılımı, t-test, tek yönlü varyans analizi, Tukey testi, Kruskal-Wallis test, MannWhitney U testleri kullanıldı. Bulgular: Hemşirelerin %78,9’unun kadın, %28,4’ünün 30-34 yaş grubunda, %38,9’u lisans mezunu, %56,8’i bekar olduğu, %46,3’ünün 0-3 yıldır kurumda çalıştığı, %57,9’unun çocuk sahibi olmadığı, %64,2’sinin gelirinin gidere eşit olduğu, %60’ının toplu taşımayla ulaşım sağladığı saptandı. Yirmi beş-yirmi dokuz yaş grubu hemşirelerin duygusal tükenme ve duyarsızlaşma alt boyut puanlarının 20-24 yaş grubundan (p<0,05), 40 yaş ve üzeri hemşirelerden (duygusal tükenme p<0,01; duyarsızlaşma, p<0,05) daha yüksek olduğu görüldü. Çocuk sahibi olmayanların duyarsızlaşma alt boyutu puanlarının iki ve daha fazla çocuk sahibi olanlardan daha yüksek olduğu saptandı (p<0,05). Dokuz-onbir yıldır çalışan hemşirelerin kişisel başarı alt boyutu puanı 4-8 yıl (p<0,05) ve 16 yıl ve üzeri çalışanlardan (p<0,001) yüksek olduğu saptandı. Çalışma yılı 0-3 yıl olanların dışsal doyumdan 4-8 yıl olanlara göre daha yüksek puan aldıkları görüldü (p<0,05). Kısa yoldan iş sahibi olma nedeni ile mesleği seçenlerin içsel, dışsal doyum alt boyut puanları ve toplam puanının diğer tüm gruplara göre düşük olduğu saptandı (p<0,05). Geliri giderinden yüksek olanların içsel, dışsal ve genel, servis aracıyla gelenlerin dışsal ve genel, yıllık izin süresi iki hafta olanların üç hafta olanlara göre iş doyumu, genel doyum puanı ve alt boyutları puanı daha yüksek saptandı (p<0.05). Hemşirelerin tükenmişlik ve iş doyumlarının orta düzeyde olduğu, tükenmişlik ile iş doyumu arasında negatif yönde ilişki olduğu saptandı (p<0.05). Sonuç: Hemşirelerden 25-29 yaş grubundakilerin, çocuk sahibi olmayanların, kurumda bulunma süresi 9-11 yıl olanların tükenmişliklerinin yüksek olduğu görüldü. Aynı zamanda yüksek ekonomik duruma sahip olanların, kısa yoldan iş sahibi olma nedeni ile mesleği seçmeyenlerin, yıllık izin süresi iki hafta olanların, servis aracı kullananların iş doyumlarının yüksek olduğu görüldü. Hemşirelerin çalışma motivasyonunu artıracak düzenlenmelerin yapılması duygusal tükenmişlik ve duyarsızlaşmayı azaltacaktır