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Genetics

RCT | Effectiveness of genotype-specific tricyclic antidepressant dosing in patients with major depressive disorder

23 May, 2023 | 12:52h | UTC

Effectiveness of Genotype-Specific Tricyclic Antidepressant Dosing in Patients With Major Depressive Disorder: A Randomized Clinical Trial – JAMA Network Open

 

Commentary on Twitter

 


Review | Hereditary colorectal, gastric, and pancreatic cancer

18 May, 2023 | 13:43h | UTC

Hereditary colorectal, gastric, and pancreatic cancer: comprehensive review – BJS Open

 

Commentary on Twitter

 


M-A | Quality of life after risk-reducing surgery for breast and ovarian cancer prevention

9 May, 2023 | 14:21h | UTC

Quality of life after risk-reducing surgery for breast and ovarian cancer prevention: a systematic review and meta-analysis – American Journal of Obstetrics and Gynecology

 


Review | Lynch syndrome genetics and clinical implications

4 May, 2023 | 13:24h | UTC

Lynch syndrome genetics and clinical implications – Gastroenterology

 


Cohort Study | Risk of multiple morbidities across the lifespan in people with Down syndrome or intellectual disabilities

28 Apr, 2023 | 13:19h | UTC

Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records – The Lancet Public Health

 

Commentary from the author on Twitter (thread – click for more)

 


Large-scale study finds genetic causes for 41% of rare pediatric diseases

18 Apr, 2023 | 13:25h | UTC

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland – New England Journal of Medicine (free for a limited period)

News Release: 5,500 people diagnosed with rare genetic diseases in major research study – University of Exeter

Commentary: Study endeavors to strengthen genomic diagnosis of rare pediatric diseases in the United Kingdom and Ireland – News Medical

 

Commentary on Twitter

 


Phase 2 RCT | Dersimelagon in erythropoietic protoporphyrias

17 Apr, 2023 | 13:05h | UTC

Dersimelagon in Erythropoietic Protoporphyrias – News England Journal of Medicine (link to abstract – $ for full-text)

 

Commentary on Twitter

 


Cohort Study | Cancer surveillance as an alternative to prophylactic total gastrectomy in hereditary diffuse gastric cancer

17 Apr, 2023 | 12:57h | UTC

Cancer surveillance as an alternative to prophylactic total gastrectomy in hereditary diffuse gastric cancer: a prospective cohort study – The Lancet Oncology (link to abstract – $ for full-text)

Commentary: Endoscopic Surveillance in Patients at Risk for Hereditary Diffuse Gastric Cancer – The ASCO Post

 


Cohort Study | Value of screening for the risk of sudden cardiac death in young competitive athletes

12 Apr, 2023 | 13:11h | UTC

Value of screening for the risk of sudden cardiac death in young competitive athletes – European Heart Journal

Editorial: Optimizing pre-participation screening to prevent tragedy in young athletes: moving from if to how – European Heart Journal

 


AAP Clinical Report | Health supervision for children and adolescents with Marfan syndrome

10 Apr, 2023 | 13:51h | UTC

Health Supervision for Children and Adolescents With Marfan Syndrome – Pediatrics

 

Commentary on Twitter

 


Review | Comprehensive care of women with genetic predisposition to breast and ovarian cancer

5 Apr, 2023 | 13:32h | UTC

Comprehensive Care of Women With Genetic Predisposition to Breast and Ovarian Cancer – Mayo Clinic Proceedings

 


Gastric Cancer: the combined impact of H. pylori infection and pathogenic gene variants

3 Apr, 2023 | 13:51h | UTC

Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer – New England Journal of Medicine (link to abstract – $ for full-text)

News Release: Helicobacter Pylori Infection Modifies the Risk of Gastric Cancer Associated with Germline Pathogenic Variants in Homologous Recombination Genes – ESMO

Commentary: H. Pylori Infection Negatively Modifies Genetically Increased Risk for Gastric Cancer – Physician’s Weekly

 

Commentary on Twitter

 


RCT | Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention

31 Mar, 2023 | 13:26h | UTC

Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention (VANGUARD): a global, multicentre, randomised, double-blind, placebo-controlled, phase 3 trial – The Lancet (link to abstract – $ for full-text)

 

Commentary on Twitter (thread – click for more)

 


SR | Extracutaneous features and complications of the Ehlers-Danlos syndromes

30 Mar, 2023 | 13:41h | UTC

Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review – Frontiers in Medicine

 


AHA Scientific Statement | Interpreting incidentally identified variants in genes associated with heritable cardiovascular disease

28 Mar, 2023 | 15:12h | UTC

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association – Circulation: Genomic and Precision Medicine

News Release: Genetic tests unexpectedly find genes linked to heart disease — now what? – AHA Newsroom

 


Review | Gene Therapy for Hemophilia — Opportunities and Risks

21 Mar, 2023 | 13:25h | UTC

Gene Therapy for Hemophilia—Opportunities and Risks – Deutsches Ärzteblatt International

 


Single-arm study | Inaxaplin reduces proteinuria in patients with APOL1 variants and focal segmental glomerulosclerosis

21 Mar, 2023 | 13:11h | UTC

Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants – New England Journal of Medicine (link to abstract – $ for full-text)

Commentary: Inaxaplin Reduces Proteinuria in FSGS With APOL1 Variants – Renal & Urology News

 

Commentary on Twitter

 


Review | Diseases affecting middle-aged and elderly individuals with trisomy 21

20 Mar, 2023 | 13:44h | UTC

Diseases Affecting Middle-Aged and Elderly Individuals With Trisomy 21 – Deutsches Ärzteblatt International

 


Single-arm study | Gene therapy with Etranacogene Dezaparvovec for Hemophilia B

9 Mar, 2023 | 14:07h | UTC

Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B – New England Journal of Medicine (link to abstract – $ for full-text)

Commentary: Gene Therapy Beneficial for Patients With Hemophilia B – HealthDay

 


Review | Preoperative frailty screening, assessment and management

16 Feb, 2023 | 14:37h | UTC

Preoperative frailty screening, assessment and management – Current Opinion in Anaesthesiology

 


RCT | Effects of Bardoxolone Methyl in Alport Syndrome

9 Feb, 2023 | 13:43h | UTC

Effects of Bardoxolone Methyl in Alport Syndrome – Clinical Journal of the American Society of Nephrology

 

Commentary on Twitter (thread – click for more)

 


Evaluation of a 12-gene pharmacogenetic panel to prevent adverse drug reactions

7 Feb, 2023 | 14:13h | UTC

A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study – The Lancet (link to abstract – $ for full-text)

News Releases:

Matching medication to DNA leads to 30% fewer side effects – University of Liverpool

Genetic analysis can reduce adverse drug reactions by 30 per cent – Karolinska Institutet

 

Commentary from one of the authors on Twitter

 


Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population

30 Jan, 2023 | 00:51h | UTC

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population – JAMA (free for a limited period)

Commentaries:

Study provides an estimate of people in the United States with VEXAS syndrome – News Medical

VEXAS Syndrome More Prevalent Than Previous Estimates, Certain Types Of Rheumatologic Conditions – HCP Live

Prevalence of VEXAS Syndrome Identified in U.S. Health System – HealthDay

Recently identified inflammatory disease VEXAS syndrome may be more common than thought, study suggests – CNN

 


Consensus Paper | Tumor surveillance guidelines for individuals with neurofibromatosis type 1

25 Jan, 2023 | 11:24h | UTC

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 – eClinicalMedicine

 


Retrospective study | Supernumerary sex chromosome aneuploidies are associated with increased risk of VTE

18 Jan, 2023 | 14:22h | UTC

Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism – JAMA (free for a limited period)

 


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