-
Moesgaard Kofod posted an update 19 hours, 31 minutes ago
A state-of-the-art zT of 1.0 near room temperature was attained in hot deformed Bi1.5Sb0.5Te3, which is higher than those for most known n-type thermoelectric materials, including commercial Bi2Te3-xSex ingots and the popular Mg3Sb2. Technically, building both the n-leg and p-leg of a thermoelectric module using similar chemical compositions has key advantages in the mechanical strength and the durability of devices. These results attested to the promise of n-type Bi2-xSbxTe3 as a replacement of the mainstream n-type Bi2Te3-xSex near room temperature.Most cases of malignancies appear to be sporadic, but some syndromes are associated with malignancies with germline variants. Herein, a child with an unusual association of oncocytic variant adrenocortical carcinoma (ACC) and rhabdomyosarcoma was presented. An 18-month-old-boy was admitted with virilization of the genital area, penis enlargement, and erection which had begun six months ago. Serum total testosterone 457 ng/dl ( less then 10), androstenedione 3.35ng/ml ( less then 0.5) and DHEA-SO4 206 mcg/dl ( less then 35) were measured higher than normal ranges. Right adrenal mass was detected. After adrenalectomy, histopathological examination revealed oncocytic variant ACC. Three-month later from surgery, the child then presented with 6×8 cm sized swelling of the left leg. Histopathological examination revealed embryonal RMS. Testing for tumour protein (TP53) variant by DNA sequence analysis was positive; however; FISH analysis was negative. After chemotherapy and local radiotherapy, the patient is in good condition without tumour recurrence. Only about one-third of these tumours have a variant of TP53. This status also applies to other genetic variants related to cancer. However, a significant association of malignancies strongly suggests a problem in tumour suppressor genes or new variants. Another suppressor gene that is yet unidentified can also be present and effective in this locus. The occurrence of ACC as a part of a syndrome and positive family history of malignancies in patients are clinically important. These patients and their families should be scanned for genetic abnormalities. The patient with ACC should be followed-up carefully for other tumours to detect malignancy early.Corticosterone methyloxidase deficiency type 2 is an autosomal recessive disorder presenting with salt loss and failure to thrive in early childhood. It is caused by inactivating mutations of the CYP11B2 gene. Herein, we describe four Turkish patients from two families who have clinical and hormonal features compatible with corticosterone methyloxidase deficiency and inherit novel CYP11B2 variants. All of the patients presented with vomiting, failure to thrive and severe dehydration except one patient who had only failure to thrive. Biochemical studies showed hyponatremia, hyperkalemia and acidosis. All patients had normal cortisol response to adrenocorticotropic hormone stimulation test and had elevated plasma renin activity with low aldosterone levels. Three patients from the same family were found a novel homozygous variant c.1175T>C (p.Leu392Pro) and a known homozygous variant c.788T>A(p.Ile263Asn) in CYP11B2 gene. In one patient had a novel homozygous variant c.666_667delCT (p.Phe223ProfsTer35) ] in the CYP11B2 gene which caused a frame shift, forming a stop codon. Corticosterone methyleoxidase deficiency should be considered as a differential diagnosis in patients presenting with hyponatremia, hyperkalemia and growth retardation, and it should not be forgotten that this condition is life-threatening if untreated. Genetic analyses are helpful in diagnosis of the patients and their relatives. Family screening is important for an early diagnosis and treatment. In our cases, we identified novel variants that were not previously reported in the literature, and which are likely to be associated with the disease.Objective Allogeneic hematopoietic stem cell transplantation (AHSCT) is a potentially curative treatment of choice for many hematological diseases. However, there are some transplantation-related risks. Predicting the risk-benefit ratio prior to AHSCT facilitates the choice of conditioning regimens and post-transplant follow-up. Hence, many risk models have been developed. The aim of the present study was to compare six different risk models clinically used. CH7233163 Material and methods Hematological malignancies were enrolled in this study. The European Group for Blood and Marrow Transplantation (EBMT), Hematopoietic Cell Transplantation Comorbidity Index (HCT-CI), Age-Adjusted Hematopoietic Cell Transplantation Comorbidity Index (HCT-CI-Age) , revised Pretransplant Assessment of Mortality Score (rPAM), acute leukemia-EBMT score (AL-EBMT) and Disease risk index (DRI) risk models were applied retrospectively. Results AL-EBMT, HCT-CI, HCT-CI-Age, risk scoring systems were found to be predictive for 2-year OS and 2-year NRM (2-year OS; (AL-EBMT reference vs score 8.5-10 HR1.3 p0.035 reference vs score >10 HR 3.8 p0.001, HCT-CI reference vs score 1-2 HR1.4 p0.018 reference vs score ≥3 HR2.5 p10 HR 3.3 p less then 0.001 HCT-CI reference vs 1-2 HR1.3 p0.028 reference vs score ≥3 HR2.3 p0.011 HCT-CI-Age reference vs score 1-2 HR 1.3 p0.01 reference vs score ≥3 HR 2.4 p 0.003). In terms of Kaplan Meier estimate of 2-year OS and 2-year NRM, the risk scoring systems having the highest predictive power was found to be AL-EBMT (2-year AUC; 0.59-0.60, respectively). The other scores were not found to be predictive for 2-year OS and NRM. Conclusion In the present study at our bone marrow and stem cell transplant center, it has been demonstrated that the HCT-CI, HCT-CI-Age, and AL-EBMT were good predictors of 2-year NRM and OS.Objective The prognosis of multiple myeloma (MM) patients is highly heterogeneous. The aim of this study is to determine the impact of patients’ renal function on the prognostic performance of International Staging System (ISS). In addition, we aimed to evaluate the results of survival of patients with ISS and normal renal function, ISS and abnormal renal function with this study. Materials and methods Two hundred and four patients with newly diagnosed MM who received an autologous stem cell transplantation (ASCT) after induction chemotherapy in our tertiary care center between the years of 2001 and 2018 were evaluated. Results There were 153 (75%) MM patients who had GFR ≥60 ml/min, 51 (25%) MM patients who had glomerular filtration rate (GFR) less then 60 ml/min at the time of diagnosis in this study. There was a strong correlation between ISS stage and GFR. The ISS staging was higher in patients who had GFR less then 60ml/min than patients who had GFR ≥60 ml/min (p less then 0.001). Patients with GFR less then 60 ml/min were significantly higher in ISS III group than ISS I and II (p less then 0.