The Lancet. Haematology; Alvarez-Larrán A, Sant'Antonio E et. al.
Aug 28th, 2021 - Recommendations regarding management of essential thrombocythaemia rely on studies done before the discovery of the CALR mutation. On May 20, 2020, the European LeukemiaNet annual meeting was held with the goal to identify unmet clinical needs in myeloproliferative neoplasms. Because patients with a CALR mutation have specific clinical characteristics, treatment of CALR-mutated essential thromb...
The British Journal of Surgery; Seppälä TT, Latchford A et. al.
May 28th, 2021 - Lynch syndrome is the most common genetic predisposition for hereditary cancer but remains underdiagnosed. Large prospective observational studies have recently increased understanding of the effectiveness of colonoscopic surveillance and the heterogeneity of cancer risk between genotypes. The need for gene- and gender-specific guidelines has been acknowledged. The European Hereditary Tumour Gr...
BMC Medical Ethics; Barnhart AJ, Dierickx K
May 19th, 2021 - Research with cerebral organoids is beginning to make significant progress in understanding the etiology of autism spectrum disorder (ASD). Brain organoid models can be grown from the cells of donors with ASD. Researchers can explore the genetic, developmental, and other factors that may give rise to the varieties of autism. Researchers could study all of these factors together with brain organ...
Clinical & Translational Oncology : Official Publication ... Luque R, Benavides M et. al.
Apr 2nd, 2021 - Recent advances in molecular profiling, have reclassified medulloblastoma, an undifferentiated tumor of the posterior fossa, in at least four diseases, each one with differences in prognosis, epidemiology and sensibility to different treatments. The recommended management of a lesion with radiological characteristics suggestive of MB includes maximum safe resection followed by a post-surgical M...
Clinical & Translational Oncology : Official Publication ... Gómez-España MA, Montes AF et. al.
Mar 5th, 2021 - Pancreatic cancer (PC) and biliary tract cancer (BTC) are both aggressive and highly fatal malignancies. Nowadays we have a profound knowledge about the molecular landscape of these neoplasms and this has allowed new therapeutic options. Surgery is the only potentially curative therapy in both cancers, but disease recurrence is frequent. In PC, adjuvant treatment with mFOLFIRINOX has improved o...
Clinical & Translational Oncology : Official Publication ... Majem M, Manzano JL et. al.
Mar 3rd, 2021 - Melanoma affects about 6000 patients a year in Spain. A group of medical oncologists from Spanish Society of Medical Oncology (SEOM) and Spanish Multidisciplinary Melanoma Group (GEM) has designed these guidelines to homogenize the management of these patients. The diagnosis must be histological and determination of BRAF status has to be performed in patients with stage ≥ III. Stage I-III resec...
International Journal of Immunogenetics; Little AM, Akbarzad-Yousefi A et. al.
Feb 11th, 2021 - A review of the British Society for Histocompatibility and Immunogenetics (BSHI) Guideline 'HLA matching and donor selection for haematopoietic progenitor cell transplantation' published in 2016 was undertaken by a BSHI appointed writing committee. Literature searches were performed and the data extracted were presented as recommendations according to the GRADE nomenclature.
Nature Reviews. Nephrology; Boyer O, Schaefer F et. al.
Jan 31st, 2021 - Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders characterized by nephrotic-range proteinuria, hypoalbuminaemia and oedema, which manifest in utero or during the first 3 months of life. The main cause of CNS is genetic defects in podocytes; however, it can also be caused, in rare cases, by congenital infections or maternal allo-immune disease. Management of CNS is very ...
Current Oncology (Toronto, Ont.); Bebb DG, Banerji S et. al.
Jan 21st, 2021 - The tyrosine receptor kinase (TRK) inhibitors larotrectinib and entrectinib were recently approved in Canada for the treatment of solid tumours harbouring neurotrophic tyrosine receptor kinase (NTRK) gene fusions. These NTRK gene fusions are oncogenic drivers found in most tumour types at a low frequency (<5%), and at a higher frequency (>80%) in a small number of rare tumours (e.g., secretory ...5%),>
Current Oncology (Toronto, Ont.); Perreault S, Chami R et. al.
Jan 14th, 2021 - Neurotrophic tyrosine receptor kinase gene fusions (NTRK) are oncogenic drivers present at a low frequency in most tumour types (<5%), and at a higher frequency (>80%) in a small number of rare tumours (e.g., infantile fibrosarcoma [IFS]) and considered mutually exclusive with other common oncogenic drivers. Health Canada recently approved two tyrosine receptor kinase (TRK) inhibitors, larotrec...5%),>
Clinical & Translational Oncology : Official Publication ... de Juan Ferré A, Álvarez Álvarez R et. al.
Jan 7th, 2021 - Soft-tissue sarcomas constitute an uncommon and heterogeneous group of tumors of mesenchymal origin. Diagnosis, treatment, and management should be performed by an expert multidisciplinary team. MRI/CT of the primary tumor and biopsy is mandatory before any treatment. Wide surgical resection with tumor-free tissue margin is the mainstay for localized disease. Radiotherapy is indicated in large,...
Clinical Pharmacology and Therapeutics; Crews KR, Monte AA et. al.
Jan 3rd, 2021 - Opioids are mainly used to treat both acute and chronic pain. Several opioids are metabolized to some extent by CYP2D6 (codeine, tramadol, hydrocodone, oxycodone, and methadone). Polymorphisms in CYP2D6 have been studied for an association with the clinical effect and safety of these drugs. Other genes that have been studied for their association with opioid clinical effect or adverse events in...
Gastroenterology Peery AF, Shaukat A et. al.
Dec 7th, 2020 - Colonic diverticulitis is a painful gastrointestinal disease that recurs unpredictably and can lead to chronic gastrointestinal symptoms. Gastroenterologists commonly care for patients with this disease. The purpose of this Clinical Practice Update is to provide practical and evidence-based advice for management of diverticulitis. We reviewed systematic reviews, meta-analyses, randomized contro...
Cancer Letters; Jiang T, Nam DH et. al.
Nov 10th, 2020 - To follow the revision of the fourth edition of WHO classification and the recent progress on the management of diffuse gliomas, the joint guideline committee of Chinese Glioma Cooperative Group (CGCG), Society for Neuro-Oncology of China (SNO-China) and Chinese Brain Cancer Association (CBCA) updated the clinical practice guideline. It provides recommendations for diagnostic and management dec...
Geriatrics & Gerontology International; Mori S, Takemoto M et. al.
Nov 7th, 2020 - Management guideline for Werner syndrome 2020. 4. Osteoporosis associated with Werner syndrome.|2020|Mori S,Takemoto M,Kubota Y,Taniguchi T,Motegi SI,|methods,therapeutic use,diagnosis,etiology,prevention & control,complications,diagnosis,drug therapy,etiology,methods,complications,genetics,therapy,genetics,
JAMA Saag MS, Gandhi RT et. al.
Oct 15th, 2020 - Data on the use of antiretroviral drugs, including new drugs and formulations, for the treatment and prevention of HIV infection continue to guide optimal practices. To evaluate new data and incorporate them into current recommendations for initiating HIV therapy, monitoring individuals starting on therapy, changing regimens, preventing HIV infection for those at risk, and special consideration...
British Journal of Haematology; Parry-Jones N, Joshi A et. al.
Oct 15th, 2020 - Guideline for diagnosis and management of hairy cell leukaemia (HCL) and hairy cell variant (HCL-V).|2020|Parry-Jones N,Joshi A,Forconi F,Dearden C, ,|diagnosis,genetics,therapy,
Annals of Oncology : Official Journal of the European Soc... Miller RE, Leary A et. al.
Oct 3rd, 2020 - Homologous recombination repair deficiency (HRD) is a frequent feature of high-grade serous ovarian, fallopian tube and peritoneal carcinoma (HGSC) and is associated with sensitivity to PARP inhibitor (PARPi) therapy. HRD testing provides an opportunity to optimise PARPi use in HGSC but methodologies are diverse and clinical application remains controversial. To define best practice for HRD tes...
Obstetrics and Gynecology; , et. al.
Aug 18th, 2020 - Prenatal testing for chromosomal abnormalities is designed to provide an accurate assessment of a patient's risk of carrying a fetus with a chromosomal disorder. A wide variety of prenatal screening and diagnostic tests are available; each offers varying levels of information and performance, and each has relative advantages and limitations. When considering screening test characteristics, no o...
Clinical & Translational Oncology : Official Publication ... Vera R, Salgado M et. al.
Aug 14th, 2020 - To provide guidance for the management of RAS wild-type (wt) metastatic colorectal cancer (mCRC) in daily practice. Nominal group and Delphi techniques were used. A steering committee of seven experts analyzed the current management of RAS wt mCRC, through which they identified controversies, critically analyzed the available evidence, and formulated several guiding statements for clinicians. S...