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About 1,318 results

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...

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...

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...

Therapy for Diffuse Astrocytic and Oligodendroglial Tumors in Adults: ASCO-SNO Guideline.
https://doi.org/10.1200/JCO.21.02036
Journal of Clinical Oncology : Official Journal of the Am... Mohile NA, Messersmith H et. al.

Dec 14th, 2021 - To provide guidance to clinicians regarding therapy for diffuse astrocytic and oligodendroglial tumors in adults. ASCO and the Society for Neuro-Oncology convened an Expert Panel and conducted a systematic review of the literature. Fifty-nine randomized trials focusing on therapeutic management were identified. Adults with newly diagnosed oligodendroglioma, isocitrate dehydrogenase (IDH)-mutant...

Risk-Reducing Salpingo-Oophorectomy and the Use of Hormone Replacement Therapy Below th...
https://doi.org/10.1111/1471-0528.16896
BJOG : an International Journal of Obstetrics and Gynaeco... Manchanda R, Gaba F et. al.

Oct 22nd, 2021 - This paper deals with the use of hormone replacement therapy (HRT) after the removal of fallopian tubes and ovaries to prevent ovarian cancer in premenopausal high risk women. Some women have an alteration in their genetic code, which makes them more likely to develop ovarian cancer. Two well-known genes which can carry an alteration are the BRCA1 and BRCA2 genes. Examples of other genes associ...

Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth F...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8548242
Annals of Laboratory Medicine; Shin S, Woo HI et. al.

Oct 13th, 2021 - Standardization of cell-free DNA (cfDNA) testing processes is necessary to obtain clinically reliable results. The pre-analytical phase of cfDNA testing greatly influences the results because of the low proportion and stability of circulating tumor DNA (ctDNA). In this review, we provide evidence-based clinical practice guidelines for pre-analytical phase procedures of plasma epidermal growth f...

Management of Pyrexia Associated with the Combination of Dabrafenib and Trametinib: Can...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8482100
Current Oncology (Toronto, Ont.); Thawer A, Miller WH et. al.

Oct 1st, 2021 - The combination of dabrafenib and trametinib is a well-established treatment for BRAF-mutated melanoma. However, the effectiveness of this approach may be hindered by the development of treatment-related pyrexia syndrome, which occurs in at least 50% of treated patients. Without appropriate intervention, pyrexia syndrome has the potential to worsen and can result in hypotension secondary to deh...

Guidelines for reporting on animal fecal transplantation (GRAFT) studies: recommendatio...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8489962
Gut Microbes; Secombe KR, Al-Qadami GH et. al.

Sep 30th, 2021 - Fecal microbiota transplant (FMT) is a powerful tool used to connect changes in gut microbial composition with a variety of disease states and pathologies. While FMT enables potential causal relationships to be identified, the experimental details reported in preclinical FMT protocols are highly inconsistent and/or incomplete. This limitation reflects a current lack of authoritative guidance on...

A digest from evidence-based Clinical Practice Guideline for Polycystic Kidney Disease ...
https://doi.org/10.1007/s10157-021-02097-6
Clinical and Experimental Nephrology; Nishio S, Tsuchiya K et. al.

Sep 27th, 2021 - A digest from evidence-based Clinical Practice Guideline for Polycystic Kidney Disease 2020.|2021|Nishio S,Tsuchiya K,Nakatani S,Muto S,Mochizuki T,|diagnosis,genetics,therapy,diagnosis,drug therapy,

Unmet clinical needs in the management of CALR-mutated essential thrombocythaemia: a co...
https://doi.org/10.1016/S2352-3026(21)00204-0
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...