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  • Hertz Klemmensen posted an update 2 days, 16 hours ago

    GATA6 pathogenic variants primarily manifest a phenotype with pancreatic agenesis and cardiac malformations. However, additional congenital malformations affecting the biliary system, congenital diaphragmatic hernia and developmental delay have been reported. We report a newborn, prenatally diagnosed with truncus arteriosus and intrauterine growth restriction, who was postnatally found to have pancreatic agenesis associated with neonatal diabetes and hepatobiliary abnormalities. Whole exome sequencing identified a de novo, heterozygous mutation in the GATA6 gene (c.1366C>T; p.Arg456Cys). Further investigations revealed abnormalities not previously associated with GATA6 mutation, including unilateral thyroid lobe agenesis associated with congenital hypothyroidism, absent gall bladder, possible adrenal insufficiency, thrombocytopenia, and neonatal stroke. © 2020 Wiley Periodicals, Inc.BACKGROUND Liver metastases are rare in children with Wilms tumor (WT), and their impact on the outcome is unclear. PATIENTS AND METHODS The French cohort of patients with WT presenting liver metastases at diagnosis and enrolled in the International Society of Pediatric Oncology (SIOP) 2001 study was reviewed. RESULTS From 2002 to 2012, 906 French patients were enrolled in the SIOP2001 trial. Among them, 131 (14%) presented with stage IV WT and 18 (1.9%) had liver metastases at diagnosis. Isolated liver metastases were displayed in four of them. After preoperative chemotherapy, persistent liver disease was reported in 14/18 patients, and 13 of them underwent metastasectomy after nephrectomy. In resected liver lesions, the same histology of the primary tumor was reported for three patients, blastemal cells without anaplasia were identified in one patient with DA-WT, and post-chemotherapy necrosis/fibrosis was identified for the other 10 patients. For the four patients who had liver and lung surgery, both sites had nonviable cells with post-chemotherapy necrosis/fibrosis. Six patients had hepatic radiotherapy. Sixteen patients achieved primary complete remission and were alive at the last follow-up (median follow-up 6.4 years). The only two deceased patients presented diffuse anaplasia histology. The five-year EFS and OS were 83% (60%-94%) and 88% (66%-97%), respectively. CONCLUSION Liver involvement does not appear to be an adverse prognostic factor in metastatic WT. The role of hepatic surgery and radiotherapy remains unclear, and should be carefully considered in case of persistent liver metastases, according to histology and radiological response to other metastatic sites. © 2020 Wiley Periodicals, Inc.Mentoring to many is the informal highly unstructured teaching, advising, and nurturing which we receive from various individuals during our school years and professional lives and then give back to our students and more junior colleagues. However, with the advances in science and technology, the increasing competitiveness in the workplace, fast pace of life, and globalization, the importance of proper mentoring in the training of science professionals has gained the attention of and has been discussed and studied by higher institutions of learning and national academies of science. Uprosertib During the past two decades, efforts toward making mentoring more structured by national academies of sciences and academic and professional institutions have produced guidelines, mentoring programs for mentors and mentees, faculty, students, scholarly research publications on mentoring, and related aspects. This article attempts to discuss the various aspects and concerns of traditional, structured, and institutional mentoring. © 2020 International Union of Biochemistry and Molecular Biology.Accreditation of academic programs and recognition of student degrees provide academic institutions a measure of a set of community agreed upon standards. These can aid pedagogical change, support faculty to successfully engage students in their discipline and to provide a mechanism to maintain standards. Several professional scientific societies from engineering, chemistry, and biochemistry and molecular biology have developed standards by which departments can be recognized for accreditation. As one of the members of the American Society for Biochemistry and Molecular Biology who helped develop the accreditation and standardized exams and a committee member of the American Chemical Society’s Committee on Professional Training I will present the evolution of the accreditation process, discuss the benefits and challenges with being an accreditation. How these programs serve their communities and at times can hinder or be used to support potential creativity and teaching pedagogies will also be discussed. © 2020 International Union of Biochemistry and Molecular Biology.Ubiquitin C-terminal hydrolase 1 (UCHL1) is an enzyme unique for its multiple activity – both ligase and hydrolase. UCHL1 was first identified as an abundant protein found in the brain and testes, however its expression is not limited to the neuronal compartment. UCHL1 is also highly expressed in carcinomas of various tissue origins, including those from brain, lung, breast, kidney, colon, prostate, pancreas and mesenchymal tissues. Loss-of-function studies and an inhibitor for UCHL1 confirmed the importance of UCHL1 for cancer therapy. So far biological significance of UCHL1 was described in the following processes spermatogenesis, oncogenesis, angiogenesis, cell proliferation and differentiation in skeletal muscle, inflammation, tissue injury, neuronal injury and neurodegeneration. © 2020 John Wiley & Sons Ltd.AIMS To determine a safe bactericidal cleaning method that does not damage urethral catheters used for intermittent catheterization. In some countries, single-use catheters are the norm; in others, the reuse of catheters is common depending on health insurance, personal preference, or individual concerns about the environment. However, no recent study of cleaning methods has been published to provide evidence for the safe reuse of catheters. METHODS Using advanced microbiological methods, a laboratory study of eight cleaning methods was conducted. Sections of uncoated polyvinylchloride (PVC) catheters were exposed to bacterial uropathogens in physiologically correct artificial urine media then tested with a range of heat, chemical, and mechanical cleaning methods. Analysis of culturable and viable but nonculturable (VBNC) bacteria was done and direct microscopy was used. Descriptive statistics were used to compare values. RESULTS Heat treatments, although effective, resulted in catheter surface breakdown and damage.