Hematopoietic cell transplantation in severe combined immunodeficiency : The SCETIDE 2006-2014 European cohort

Publisher Copyright: © 2021 The AuthorsBackground: Hematopoietic stem cell transplantation (HSCT) represents a curative treatment for patients with severe combined immunodeficiency (SCID), a group of monogenic immune disorders with an otherwise fatal outcome. Objective: We performed a comprehensive multicenter analysis of genotype-specific HSCT outcome, including detailed analysis of immune reconstitution (IR) and the predictive value for clinical outcome. Methods: HSCT outcome was studied in 338 patients with genetically confirmed SCID who underwent transplantation in 2006-2014 and who were registered in the SCETIDE registry. In a representative subgroup of 152 patients, data on IR and long-term clinical outcome were analyzed. Results: Two-year OS was similar with matched family and unrelated donors and better than mismatched donor HSCT (P 0.5 × 10e3/μL at +1 year were identified as independent predictors of favorable clinical and immunologic outcome. Conclusion: Recent advances in HSCT in SCID patients have resulted in improved OS and EFS in all genotypes and donor types. To achieve a favorable long-term outcome, treatment strategies should aim for optimal naive CD4 T lymphocyte regeneration.Peer reviewe

Analysis of plateletpheresis donor deferral rate, characteristics, and its preventability

Introduction: Plateletpheresis is a procedure included in donor apheresis in which the donor blood is passed through an extraction machine, the platelets are extracted, and the remainder is returned into the circulation. Donor selection is important because donors are the only source for meeting blood product needs. In our study we aimed to evaluate deferral reasons in applications for plateletpheresis donation and reveal determine the preventable ones among them. Materials And Methods: The persons who were admitted to our Blood Center to be plateletpheresis donors during the period of six month, after a demand/request for platelet suspension was issued by the clinics. Their eligibility for being plateletapeheresis donors was decided. Results: A total of 1098 persons have applied to be plateletpheresis donors; 1045 were male and 53 female. A total of 787 persons were found to be eligible for being plateletpheresis donors; 772 were male and 15 female. 891 units of apheresis platelets were obtained from apheresis donors, including double units collected from 104 of them. Applications of 311 persons were deferred due to various reasons. The most common reason for donor deferral was inappropriate vascular access in 80 persons (25.7%, 69 males, 11 females). This is followed by abnormal laboratory values in 57 persons (18.3%) and drug use (most commonly analgesics) in 46 persons (14.7%). Discussion: During the assessment of blood product donors, proper selection of the candidates should be considered very carefully in order to not to harm the donor but to supply the demand of the recipient properly. When the deferral reasons were evaluated, improvement of in-hospital technical reasons and education sessions for people in order to increase the social awareness may substantially decrease the deferral rates

Ce-O catalysts for elemental sulfur production via selective catalytic oxidation of H2S Highlights

In this study, Ce-O catalysts were prepared by the modified complexation method and their activities were tested for selective catalytic oxidation of H2S to elementel sulfur. The calcination process, which is the last step of catalyst synthesis, was performed at different temperatures (300 degrees C, 350 degrees C, 400 degrees C ve 450 degrees C) and the effect of calcination temperature on the catalytic activity was investigated. Activity tests with the synthesized catalysts were carried out in a fixed-bed reactor system using different feed ratios of O-2/H2S at 250 degrees C. The XRD patterns of all the catalysts, calcined at different temperatures, show the formation of cerianite phase with non-stoichiometric O-2 (CeO(2-x)) in the bulk phase. The XPS analysis of the Ce-O catalyst supported this result, while most of cerium was in +4 oxidation state, + 3 oxidation state was also observed in Ce-O catalyst. Rather high elemental sulfur selectivity (>= 97\%) was achieved with all Ce-O catalysts. However, Ce-O-350 catalyst which was calcined at 350 degrees C gave the longest catalytic activity with an H2S conversion of 69\% in selective oxidation of H2S. The decreasing of calcination temperature of the catalysts was resulted in the increase in its catalytic activity. Catalytic activity for longer periods which was achieved with Ce-O catalyst calcined at lower temperatures was due to better oxygen mobility of the catalyst

Risk Factors of Nasopharyngeal Carcinoma in Turkey - an Epidemiological Survey of the Anatolian Society of Medical Oncology

Background: Nasopharyngeal carcinoma is a rare disease in most parts of the world with a multifactorial etiology involving an interaction of genetic, viral, environmental and dietary risk factors. This is the first epidemiologic study aimed to evaluate the risk factors of nasopharyngeal carcinoma in the Turkish population. Methods: We conducted a multicentric, retrospective, case-control study using a standardized questionnaire which captured age, sex, occupation, household type, blood group, dietary habits, smoking, alcohol consumption and oral hygiene. The study included 183 cases and 183 healthy controls matched by sex and age. Multiple logistic regression and univariate analysis were employed. Results: The peak age incidence was 40-50 years and the male to female ratio was 2:1. We observed significant associations between elevated nasopharyngeal carcinoma risk and low socioeconomic status, rural household type (OR: 3.95, p0.05); furthermore salty foods had a borderline p value (OR: 2.14, p=0.053). Blood type A increased the risk (OR: 2.03, p=0.002) while blood type 0 was a protective factor (OR: 0.53, p=0.009). Rare habit of teeth brushing (OR: 6.17, p= 10 decayed teeth before diagnosis (OR: 2.17, p<0.001) increased the risk. Conclusions: The nasopharyngeal carcinoma risk factors described in the literature are also applicable for the Turkish population. People with type A blood are at risk in Turkey. Salted foods have also a border risk out of the endemic regions. This is the only study showing that poor oral hygene is a serious risk factor for nasopharyngeal carcinoma

The outcome of COVID‐19 in patients with hematological malignancy

In this study, we aim to report the outcomes for COVID-19 in patients with hematological malignancy in Turkey. Data from laboratory-confirmed 188 897 COVID-19 patients diagnosed between 11 March 2020 and 22 June 2020 included in the Republic of Turkey, Ministry of Health database were analyzed retrospectively. All COVID-19 patients with hematological malignancy (n = 740) were included in the study and an age, sex, and comorbidity-matched cohort of COVID-19 patients without cancer (n = 740) at a 1:1 ratio was used for comparison. Non-Hodgkin lymphoma (30.1%), myelodysplastic syndrome (19.7%), myeloproliferative neoplasm (15.7%) were the most common hematological malignancies. The rates of severe and critical disease were significantly higher in patients with hematological malignancy compared with patients without cancer (P =.001). The rates of hospital and intensive care unit (ICU) admission were higher in patients with hematological malignancy compared with the patients without cancer (P =.023, P =.001, respectively). The length of hospital stay and ICU stay was similar between groups (P =.7, P =.3, retrospectively). The rate of mechanical ventilation (MV) support was higher in patients with hematological malignancy compared with the control group (P =.001). The case fatality rate was 13.8% in patients with hematological malignancy, and it was 6.8% in the control group (P =.001). This study reveals that there is an increased risk of COVID-19-related serious events (ICU admission, MV support, or death) in patients with hematological malignancy compared with COVID-19 patients without cancer and confirms the high vulnerability of patients with hematological malignancy in the current pandemic

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinson's disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort. We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel. Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (similar to 0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO <= 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO <= 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9 x 10(-34)). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1 x 10(-35)). Female patients were 22% more likely to have a positive PDGT (P = 3 x 10(-4)), and for individuals with FH+ this likelihood was 55% higher (P = 1 x 10(-14)). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia/dyskinesia- or dementia-related genes. In the emerging era of gene-targeted PD clinical trials, our finding that similar to 15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD