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Mixing up ratio as well as co2 isotopic make up exploration of environmental Carbon dioxide within Beijing, The far east.
Objective To analyze the genetic and clinical characteristics of MYO15A variants associated non-syndromic autosomal recessive deafness3 (DFNB3). Methods The hearing test and high-throughput sequencing data of 108 families with non-syndromic hearing loss, who visited the Center of Genetics and Prenatal Diagnosis in the First Affiliated Hospital of Zhengzhou University from November 2016 to February 2019, were retrospectively analyzed to investigate the characteristics of MYO15A variation. Results Compound heterozygous MYO15A variations were detected in nine patients from eight families, accounting for 7.4% of all 108 families. The variants were c.5910+1G>A/c.9417_9418insTA, c.4234T>G/c.8324G>T, c.3926A>T/c.5002delC, c.9690+1G>A/c.10257_10259delCTT, c.8324G>T/c.10419_10423delCAGCT, c.4519C>T/c.6454G>C, c.6177+1G>T/c.10257_10259delCTT and c.5692C>T/c.7396-1G>A. All patients had severe to profound hearing loss. Among the 14 variations, 12 variations were located in the main structural domains, including 5 in motor domain, 3 in FERM domain, 3 in MyTH4 domain and 1 in IQ motif. The c.3926A>T, c.4234T>G, c.4519C>T, c.5002delC, c.6454G>C, c.8324G>T, c.9417_9418insTA and c.10419_10423delCAGCT had not been reported in the Human Gene Mutation Database up to February 2020. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), 6 reported variants and the first reported c.4519C>T, c.5002delC, c.9417_9418insTA and c.10419_10423delCAGCT were identified as pathogenic variants, while c.8324G>T was likely pathogenic variant, and c.3926A>T, c.4234T>G and c.6454G>C were variants of uncertain significance. Conclusions The variations of MYO15A in patients with DFNB3 are mainly complex heterozygous. The clinical phenotypes are mostly severe to profound hearing loss, and the mutation loci are mainly in the motor, FERM and MyTH4 domains.Objective To investigate the clinical feature, diagnosis, treatment and prognosis of childhood acute lymphoblastic leukemia (ALL) complicated with candida tropicalis bloodstream infection (CTBI), so as to improve the understanding of this disease. Methods The general information, clinical manifestation, auxiliary examination, treatment and outcome of 14 childhood ALL who were diagnosed with tropical candidemia between January 2015 and December 2018 in 6 hospitals were analyzed retrospectively. Clinical data of non invasive fungal disease (IFD) ALL (28 cases) and other IFD children (9 cases) admitted in the same period were collected as control group. Logistic regression model was used to analyze the risk factor of CTBI. click here Results Among 14 cases, there were 7 males and 7 females, with the age ranged from 17 months to 13 years. All the cases had fever, 9 cases had digestive system symptoms and stool fungal culture were positive in 3 of them; 7 cases had respiratory system symptoms and sputum fungal culture was positive in 1 of them; 2 cases had central nervous system symptoms and 10 cases progressed into septic shock. All 14 cases had neutropenia and the neutropenia duration was 1 to 53 days. Among 14 cases, the C-reactive protein was>50 mg/L in 8 cases, in which the proportion was significantly higher than that in other invasive fungal disease(IFD) (8/14 vs. 1/9, P10 days (χ²=10.254, P=0.001), use of broad-spectrum antibiotics (χ²=13.888, P less then 0.01), skin and mucous membrane damage (χ²= 5.923, P=0.015) were statistically significant. Conclusions In childhood ALL complicated with tropical candidemia, the drug resistance rate and mortality rate were high. For azole-resistant tropical candida, amphotericin B liposome or echinocandins(caspofungin) -fluorocytosine combined therapy was recommended to reduce treatment-related deaths.Objective To analyze the clinical characteristics and prognosis of mixed phenotype acute leukemia (MPAL) in children. Methods The data of 29 children diagnosed as MPAL in the Pediatric Blood Disease Center, Institute of Hematology & Blood Disease Hospital, Chinese Academy of Medical Sciences from January 1, 2005 to December 1, 2019 were collected retrospectively. The morphology, immunophenotypes, cytogenetics, molecular biological characteristics, induction chemotherapy regimen, and prognosis were analyzed. Kaplan-Meier Method was used to draw survival curve. Log-Rank was used for univariate analysis. Results (1) Among 29 MPAL cases, there were 1 case with KMT2A rearrangement, 1 case with BCR-ABL1, 13 cases with B/myeloid(B-M) type, 12 cases with T/myeloid(T-M) type and 2 cases with acute undifferentiated leukemia. (2) The common immunophenotypes were CD33 (23 cases, 79%), CD34 (25 cases, 86%) and HLA-DR (20 cases, 69%), and CD19 was positive in 17 cases (59%). (3) In molecular genetics analysis, 8 cases werey with ALL or hybrid regimens is a good choice to obtain favorable prognosis.Objective To assess the anti-hepatitis B surface antibody (HBsAb) titers in children after completion of chemotherapy and (or) hematopoietic stem cell transplantation (HSCT), evaluate the efficacy and safety of the current hepatitis B re-vaccination schedule. Methods A total of 239 children who completed their chemotherapy and (or) HSCT and visited the vaccination clinic of Shanghai Children's Medical Center from March 2017 to July 2019 were enrolled in this study. According to the previous diseases, patients were divided into leukemia group (85 cases), lymphoma group (30 cases), solid tumor group (49 cases) and non-malignant hematological disease group (75 cases). According to the treatment of previous diseases, the patients were divided into chemotherapy group (126 cases), HSCT group (89 cases) and chemotherapy plus HSCT group (24 cases). HBsAb titers were assessed both at the time of diagnosis and after completion of treatment and some children who were HBsAb seronegative were re-vaccinated with 3 doses ofnd different HBsAb titers groups before treatment (χ²=32.117，P less then 0.01). Logistic regression showed that HSCT (chemotherapy group as the reference, odds ratio (OR）=2.999, 95% confidence interval (CI) 1.276-7.050，P=0.012) and HBsAb titers less then 328.2 U/L before treatment (HBsAb titers≥328.2 U/L group as the reference, OR=6.397， 95% CI3.159-12.954，P less then 0.01) were risk factors for negative conversion of HBsAb. Among 48 patients whose HBsAb was seronegative after completion of chemotherapy and (or) HSCT and re-vaccinated with hepatitis B vaccine, 47 (97.9%) cases became HBsAb seropositivie. No serious adverse effects or complications were reported among these patients. Conclusions After completion of chemotherapy and (or) HSCT, most children completely lose their protective humoral immunity against hepatitis B. Hepatitis B re-vaccination schedule can be efficiently and safely applied in those patients.
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