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About 1,335 results

Radiation Therapy for IDH-Mutant Grade 2 and Grade 3 Diffuse Glioma: An ASTRO Clinical ...
https://doi.org/10.1016/j.prro.2022.05.004
Practical Radiation Oncology; Halasz LM, Attia A et. al.

Jul 29th, 2022 - This guideline provides evidence-based recommendations for adults with isocitrate dehydrogenase (IDH)-mutant grade 2 and grade 3 diffuse glioma, as classified in the 2021 World Health Organization (WHO) Classification of Tumours. It includes indications for radiation therapy (RT), advanced RT techniques, and clinical management of adverse effects. The American Society for Radiation Oncology con...

Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resour...
https://doi.org/10.1016/j.gim.2022.03.018
Genetics in Medicine : Official Journal of the American C... Li MM, Tayoun AA et. al.

Jul 9th, 2022 - Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagn...

Guidelines on Germline Testing for Urologic Tumor Syndromes.
https://doi.org/10.1016/j.euf.2022.06.010
European Urology Focus; Gomella PT, Mark JR et. al.

Jul 9th, 2022 - In the expanding precision medicine landscape, along with improvements in and the availability of testing, the use of genetics in the evaluation and treatment of patients has increased significantly. Multiple urologic cancers in different organ systems associated with an inherited gene mutation have been described. As these mutations can impact screening and treatment decisions for patients and...

EASL Clinical Practice Guidelines on haemochromatosis.
https://doi.org/10.1016/j.jhep.2022.03.033
Journal of Hepatology; ,

Jun 7th, 2022 - Haemochromatosis is characterised by elevated transferrin saturation (TSAT) and progressive iron loading that mainly affects the liver. Early diagnosis and treatment by phlebotomy can prevent cirrhosis, hepatocellular carcinoma, diabetes, arthropathy and other complications. In patients homozygous for p.Cys282Tyr in HFE, provisional iron overload based on serum iron parameters (TSAT >45% and fe...

European consensus-based interdisciplinary guideline for melanoma. Part 2: Treatment - ...
https://doi.org/10.1016/j.ejca.2022.04.018
European Journal of Cancer (Oxford, England : 1990); Garbe C, Amaral T et. al.

May 28th, 2022 - A unique collaboration of multidisciplinary experts from the European Dermatology Forum (EDF), the European Association of Dermato-Oncology (EADO), and the European Organization of Research and Treatment of Cancer (EORTC) was formed to make recommendations on cutaneous melanoma diagnosis and treatment, based on the systematic literature reviews and the experts' experience. Cutaneous melanomas a...

Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis...
https://doi.org/10.1053/j.gastro.2022.02.021
Gastroenterology Boland CR, Idos GE et. al.

Apr 30th, 2022 - The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndro...

Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis...
https://doi.org/10.1016/j.gie.2022.02.044
Gastrointestinal Endoscopy; Boland CR, Idos GE et. al.

Apr 30th, 2022 - The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndro...

Guidelines for Mobile Laboratories for Molecular Diagnostic Testing of COVID-19.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9057824
Annals of Laboratory Medicine; Roh KH, Hong KH et. al.

Apr 27th, 2022 - With the rapid spread of the coronavirus disease (COVID-19), the need for rapid testing and diagnosis and consequently, the demand for mobile laboratories have increased. Despite this need, there are no clear guidelines for the operation, maintenance, or quality control of mobile laboratories. We provide guidelines for the operation, management, and quality control of mobile laboratories, and s...

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global...
https://doi.org/10.1016/j.kint.2022.03.019
Kidney International;

Apr 24th, 2022 - Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management of nephropathies, and have led to improved diagnostics, disease surveillance, choice of therapy, and family counseling....

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Pro...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019936
Orphanet Journal of Rare Diseases; Mosbah H, Donadille B et. al.

Apr 21st, 2022 - Dunnigan syndrome, or Familial Partial Lipodystrophy type 2 (FPLD2; ORPHA 2348), is a rare autosomal dominant disorder due to pathogenic variants of the LMNA gene. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins), is to provide health professionals with a guide to optimal management and care of patients with FPLD2, based on a ...

KASL clinical practice guidelines for management of chronic hepatitis B.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9013624
Clinical and Molecular Hepatology;

Apr 18th, 2022 - KASL clinical practice guidelines for management of chronic hepatitis B.|2022| ,|therapeutic use,genetics,drug therapy,

Measurement of lysosomal enzyme activities: A technical standard of the American Colleg...
https://doi.org/10.1016/j.gim.2021.12.013
Genetics in Medicine : Official Journal of the American C... Strovel ET, Cusmano-Ozog K et. al.

Apr 9th, 2022 - Assays that measure lysosomal enzyme activity are important tools for the screening and diagnosis of lysosomal storage disorders (LSDs). They are often ordered in combination with urine oligosaccharide and glycosaminoglycan analysis, additional biomarker assays, and/or DNA sequencing when an LSD is suspected. Enzyme testing in whole blood/leukocytes, serum/plasma, cultured fibroblasts, or dried...

The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fib...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424324
Chest Newton CA, Oldham JM et. al.

Mar 27th, 2022 - Patients with familial pulmonary fibrosis represent a subset of patients with pulmonary fibrosis in whom inherited gene variation predisposes them to disease development. In the appropriate setting, genetic testing allows for personalized assessment of disease, recognition of clinically relevant extrapulmonary manifestations, and assessing susceptibility in unaffected relatives. However current...

ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptib...
https://doi.org/10.1016/j.gie.2021.12.001
Gastrointestinal Endoscopy; Sawhney MS, Calderwood AH et. al.

Feb 21st, 2022 - ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations.|2022|Sawhney MS,Calderwood AH,Thosani NC,Rebbeck TR,Wani S,|diagnosis,genetics,

American Society for Gastrointestinal Endoscopy guideline on screening for pancreatic c...
https://doi.org/10.1016/j.gie.2021.12.002
Gastrointestinal Endoscopy; Calderwood AH, Sawhney MS et. al.

Feb 21st, 2022 - American Society for Gastrointestinal Endoscopy guideline on screening for pancreatic cancer in individuals with genetic susceptibility: methodology and review of evidence.|2022|Calderwood AH,Sawhney MS,Thosani NC,Rebbeck TR,Wani S,|diagnosis,genetics,

Gastric Cancer, Version 2.2022, NCCN Clinical Practice Guidelines in Oncology.
https://doi.org/10.6004/jnccn.2022.0008
Journal of the National Comprehensive Cancer Network : JN... Ajani JA, D'Amico TA et. al.

Feb 8th, 2022 - Gastric cancer is the third leading cause of cancer-related deaths worldwide. Over 95% of gastric cancers are adenocarcinomas, which are typically classified based on anatomic location and histologic type. Gastric cancer generally carries a poor prognosis because it is often diagnosed at an advanced stage. Systemic therapy can provide palliation, improved survival, and enhanced quality of life ...

Standards for the classification of pathogenicity of somatic variants in cancer (oncoge...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9081216
Genetics in Medicine : Official Journal of the American C... Horak P, Griffith M et. al.

Feb 2nd, 2022 - Several professional societies have published guidelines for the clinical interpretation of somatic variants, which specifically address diagnostic, prognostic, and therapeutic implications. Although these guidelines for the clinical interpretation of variants include data types that may be used to determine the oncogenicity of a variant (eg, population frequency, functional, and in silico data...

The international WAO/EAACI guideline for the management of hereditary angioedema-The 2...
https://doi.org/10.1111/all.15214
Allergy Maurer M, Magerl M et. al.

Jan 11th, 2022 - Hereditary angioedema (HAE) is a rare and disabling disease for which early diagnosis and effective therapy are critical. This revision and update of the global WAO/EAACI guideline on the diagnosis and management of HAE provides up-to-date guidance for the management of HAE. For this update and revision of the guideline, an international panel of experts reviewed the existing evidence, develope...

Interpretation and reporting of large regions of homozygosity and suspected consanguini...
https://doi.org/10.1016/j.gim.2021.10.004
Genetics in Medicine : Official Journal of the American C... Gonzales PR, Andersen EF et. al.

Dec 16th, 2021 - Genomic testing, including single-nucleotide variation (formerly single-nucleotide polymorphism)-based chromosomal microarray and exome and genome sequencing, can detect long regions of homozygosity (ROH) within the genome. Genomic testing can also detect possible uniparental disomy (UPD). Platforms that can detect ROH and possible UPD have matured since the initial American College of Medical ...

Canadian Consensus Recommendations on the Management of MET-Altered NSCLC.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8628757
Current Oncology (Toronto, Ont.); Cheema PK, Banerji SO et. al.

Dec 14th, 2021 - In Canada, the therapeutic management of patients with advanced non-small cell lung cancer (NSCLC) with rare actionable mutations differs between provinces, territories, and individual centres based on access to molecular testing and funded treatments. These variations, together with the emergence of several novel mesenchymal-epithelial transition (MET) factor-targeted therapies for the treatme...