Laboratory Genetic Testing in Clinical Practice 2016.

WOS: 000392526600001PubMed ID: 2813360

Evolution of Genetic Techniques: Past, Present, and Beyond.

Genetics is the study of heredity, which means the study of genes and factors related to all aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in the mid-19th century. Prior to Mendel, genetics was primarily theoretical whilst, after Mendel, the science of genetics was broadened to include experimental genetics. Developments in all fields of genetics and genetic technology in the first half of the 20th century provided a basis for the later developments. In the second half of the 20th century, the molecular background of genetics has become more understandable. Rapid technological advancements, followed by the completion of Human Genome Project, have contributed a great deal to the knowledge of genetic factors and their impact on human life and diseases. Currently, more than 1800 disease genes have been identified, more than 2000 genetic tests have become available, and in conjunction with this at least 350 biotechnology-based products have been released onto the market. Novel technologies, particularly next generation sequencing, have dramatically accelerated the pace of biological research, while at the same time increasing expectations. In this paper, a brief summary of genetic history with short explanations of most popular genetic techniques is given

Laboratory genetic testing in clinical practice 2014.

WOS: 000352434200001PubMed ID: 2587902

Daratumumab and venetoclax in combination with chemotherapy provide sustained molecular remission in relapsed/refractory CD19, CD20, and CD22 negative acute B lymphoblastic leukemia with KMT2A-AFF1 transcript.

Relapsed/refractory (R/R) B-cell acute lymphoblastic leukemia (B-ALL) has a very poor prognosis with a median overall survival of four to nine months. Achieving a complete molecular response is most often required to obtain a sustained leukemia-free survival after allogeneic hematopoietic stem cell transplantation. Immunotherapies targeting CD19, CD20, or CD22 are very efficient in achieving this goal. However, in the absence of the expression of these immunotherapeutic targets by lymphoblasts, treatment options are extremely scarce. We report the successful treatment of a 26-year-old man who suffered R/R, CD19, CD20, and CD22 negative B-ALL targeting Bcl-2 and CD38 by combining venetoclax and daratumumab with chemotherapy

Techno-economic assessment at full scale of a biogas refinery plant receiving nitrogen rich feedstock and producing renewable energy and biobased fertilisers

Anaerobic digestion of nitrogen (N) rich substrates might be hindered when ammonia (NH3) formation reaches toxic levels for methanogenic microorganisms. One possible strategy to avoid inhibiting conditions is the removal of NH3 from digestate by stripping and scrubbing technology and by recirculating N depleted digestate back to the digester. This study aimed to i) monitor the performance (mass and energy balances) of a full scale digestate processing cascade that includes an innovative vacuum side stream NH3stripping and scrubbing system, ii) assess the production cost of ammonium sulphate (AS) solution and iii) evaluate its fertiliser quality. The use of gypsum to recover NH3 in the scrubbing unit, instead of the more common sulphuric acid, results in the generation of AS and a fertilising liming substrate. Mass and nutrient balances indicated that 57% and 7.5% of ammonium N contained in digestate was recovered in the form of a 22% AS and liming substrate, respectively. The energy balance showed that about 3.8 kWhel and 59 kWhth were necessary to recover 1 kg of N in the form of AS. Furthermore, the production cost of AS, including both capital and operational costs, resulted to be 5.8 € t−1 of digestate processed. According to the fertiliser quality assessment, this technology allows for the recovery of NH3in the form of salt solutions that can be utilised as a substitute for synthetic mineral nitrogen fertilisers.</p

Mogelijkheden en beperkingen van een gebiedsgerichte uitwerking van de Nitraatrichtlijn

Wordt de landbouw onevenredig hard getroffen in die gebieden in Nederland waar aan de nitraatconcentratie in het grondwater wordt voldaan? Die vraag probeerden Alterra en de Universiteit Utrecht te beantwoorden in een studie naar de mogelijkheden die de Nitraatrichtlijn biedt om de aanwijzing van nitraatuitspoelingsgevoelige gebieden (kwetsbare zones) en bijbehorende nitraatactieprogramma's te differentiëren naar de landbouw- en milieukundige omstandigheden in de verschillende regio's. Het doel hierachter is een betere aansluiting te krijgen bij de gebiedsgerichte uitwerking van de Kaderrichtlijn Water. De resultaten zijn gebaseerd op literatuurstudie, brainstormsessies, interviews en een bijeenkomst met actoren uit het veld. Een verdere differentiatie is technisch mogelijk via aanwijzing van specifieke kwetsbare zones en het uitzonderen van andere gebieden. Verwacht wordt echter dat het uit te zonderen areaal beperkt zal zijn. Meer perspectief bied een verdergaande (gebiedsgerichte) differentiatie van gebruiksnormen die van toepassing zijn op de aangewezen kwetsbare zones. Nitraatactieprogramma's zijn verder te 'harmoniseren' met stroomgebiedsplannen van de Kaderrichtlijn Water, maar dienen wel als zodanig herkenbaar in stand te blijven

t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders.

Through a combined approach integrating RNA-Seq, SNP-array, FISH and PCR techniques, we identified two novel t(15;21) translocations leading to the inactivation of RUNX1 and its partners SIN3A and TCF12. One is a complex t(15;21)(q24;q22), with both breakpoints mapped at the nucleotide level, joining RUNX1 to SIN3A and UBL7-AS1 in a patient with myelodysplasia. The other is a recurrent t(15;21)(q21;q22), juxtaposing RUNX1 and TCF12, with an opposite transcriptional orientation, in three myeloid leukemia cases. Since our transcriptome analysis indicated a significant number of differentially expressed genes associated with both translocations, we speculate an important pathogenetic role for these alterations involving RUNX1

Uitkomsten Mestinnovaties in een notendop

De minister van LNV heeft Wageningen UR verzocht om inzichtelijk te maken welke technische innovaties er mogelijk zijn die aansluiten bij de ontwikkelingen in de markt om tot een betere mestverwerking te komen. De innovaties zijn gericht op het inbreken van de fosfaatkringloop in Nederland