PURPOSE. To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients. METHODS. A total of 591 probands (315 with family history and 276 sporadics) were analyzed. For 155 of them, we performed a family segregation study, considering a total of 382 relatives. Probands were analyzed by a...
Published in Infection and Drug Resistance
Purpose To identify novel sequence types 4564 (ST4564) carbapenem-resistant Klebsiella pneumoniae (CRKP). Characterizing the feature of the clinic, resistance, and virulence of a co-producing NDM-1 and CTX-M-9 family and mcr-1 ST4564 strain. Methods A novel ST4564 CRKP was collected from June 2018 to July 2018. We investigated its antimicrobial sus...
Published in Frontiers in Cell and Developmental Biology
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, and 15–25% of RP is transmitted as an autosomal dominant (ad) trait. The objectives of this study were to establish the variant profile in a large cohort of adRP families and to elucidate the variant spectrum of each adRP gene in Chinese patients. A total of 138 proba...
Published in Emerging Infectious Diseases
Severe malaria (SM) is a major public health problem in malaria-endemic countries. Sequestration of Plasmodium falciparum –infected erythrocytes in vital organs and the associated inflammation leads to organ dysfunction. MicroRNAs (miRNAs), which are rapidly released from damaged tissues into the host fluids, constitute a promising biomarker for th...
Published in Frontiers in Oncology
Here we compared clonotype identification by allele-specific oligonucleotide real-time quantitative-PCR (ASO RQ-PCR) and next-generation sequencing (NGS) in 80 multiple myeloma patients. ASO RQ-PCR was applicable in 49/55 (89%) and NGS in 62/78 (80%). Clonotypes identified by both methods were identical in 33/35 (94%). Sensitivity of 10−5 was confi...
Published in Mitochondrial DNA. Part B, Resources
The complete chloroplast genome of Paeonia cv. Hwang-Moran (PHM), a yellow flowering tree peony, was de novo assembled and characterized from high-throughput next-generation sequencing data. The total length of the circular PHM chloroplast genome was 152,519 bp, including a large single-copy (LSC) region of 84,214 bp, a small single-copy (SSC) regi...
Published in Frontiers in Oncology
Background To evaluate the efficacy and safety of everolimus, a mTOR inhibitor, on invasive malignant renal epithelioid angiomyolipoma (EAML). Materials and Methods From Oct 2014 to May 2019, we collected data from seven patients with a definite (clinical and pathological) diagnosis of EAML received everolimus in our hospital. Targeted sequence cap...
Published in Frontiers in Endocrinology
Background Infertility affects about 7% of the general male population. The underlying cause of male infertility is undefined in about 50% of cases (idiopathic infertility). The number of genes involved in human spermatogenesis is over two thousand. Therefore, it is essential to analyze a large number of genes that may be involved in male infertili...
Published in Frontiers in Pharmacology
Purpose: The effectiveness of poly (adenosine diphosphate–ribose) polymerase (PARP) inhibitor olaparib for metastatic castration-resistant prostate cancer (MCRPC) with multiple loss-of-function alterations in genes that are involved in DNA repair has been demonstrated. We aimed to evaluate the cost-effectiveness of genomic test-directed olaparib on...
Kyoto University (京都大学) / 0048 / 新制・課程博士 / 博士(社会健康医学) / 甲第22889号 / 社医博第113号 / 京都大学大学院医学研究科社会健康医学系専攻 / (主査)教授 川上 浩司, 教授 松田 文彦, 教授 中島 貴子 / 学位規則第4条第1項該当
