Post Clay

Extranodal NK/T cell lymphoma, nasal type, is a rare type of non-Hodgkin’s lymphoma (NHL), and the aetiology is not fully understood. Although the clinical outcome of anthracycline-based chemotherapy was dismal because of multidrug resistance (MDR). Novel therapeutic strategies including L-asparaginase-containing regimens, radiotherapy, sequential…[Read more]

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Using a systematic approach comprised of three steps, 237 pathogenic variants in 478 out of 485 patient samples (98.6%) were detected, including the identification of a heterogeneous mutation spectrum of 91 novel mutations. In addition, prenatal diagnosis of HA in pregnant carriers allowed for accurate determination of the foetal F8…[Read more]

To date, 61 patients are described, harbouring 32 different pathogenic variants in four distinct complex II genes three structural subunit genes (SDHA, SDHB and SDHD) and one assembly factor gene (SDHAF1). Many pathogenic variants result in a null allele due to nonsense, frameshift or splicing defects however, the missense variants that do occur…[Read more]

Accuracy and consistency in RECIST (Response evaluation criteria in solid tumors) measurements are crucial for treatment planning. Manual RECIST measurement is tedious, prone-to-error and operator-subjective. Objective was to develop a fully automated system for tumor segmentation and RECIST score estimation with reasonable accuracy, consistency…[Read more]