familial Archives

Bad Gene Hunting-Sudden Unexplained Death and Familial Long QT Syndrome.

NewsemiaJanuary 15, 2021

by NewsemiaJanuary 15, 202109

Related Articles Bad Gene Hunting-Sudden Unexplained Death and Familial Long QT Syndrome. JAMA Cardiol. 2020 04 01;5(4):375-376 Authors: Wallis KA PMID: 32101253 [PubMed – indexed...

Cardiology

A Polygenic Risk Score for Low-density Lipoprotein Cholesterol is Associated with Risk of Ischemic Heart Disease and Enriches for Individuals with Familial Hypercholesterolemia.

NewsemiaJanuary 14, 2021

by NewsemiaJanuary 14, 2021013

Related Articles A Polygenic Risk Score for Low-density Lipoprotein Cholesterol is Associated with Risk of Ischemic Heart Disease and Enriches for Individuals with Familial Hypercholesterolemia....

Cardiology

The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect.

NewsemiaJanuary 11, 2021

by NewsemiaJanuary 11, 2021012

Related Articles The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect. BMC Cardiovasc Disord. 2021 Jan...

Latest News

A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer's disease

NewsemiaJanuary 7, 2021

by NewsemiaJanuary 7, 2021013

Sepulveda-Falla, D; Chavez-Gutierrez, L; Portelius, E; Vélez, JI; Dujardin, S; Barrera-Ocampo, A; Dinkel, F; … Glatzel, M; + view all Sepulveda-Falla, D; Chavez-Gutierrez, L; Portelius,...

Latest News

Visuomotor integration deficits are common to familial and sporadic preclinical Alzheimer's disease

NewsemiaDecember 21, 2020

by NewsemiaDecember 21, 202000

Lu, K; Nicholas, JM; Weston, PSJ; Stout, JC; O’Regan, AM; James, SN; Buchanan, SM; … Crutch, SJ; + view all Lu, K; Nicholas, JM; Weston,...

Cardiology

A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve.

NewsemiaDecember 14, 2020

by NewsemiaDecember 14, 202006

Related Articles A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve. Genet Mol Biol. 2020;43(4):e20200142...

AI/ML

NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.

NewsemiaDecember 12, 2020

by NewsemiaDecember 12, 202000

Related Articles NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance. Clin Endocrinol (Oxf). 2020 Dec 09;: Authors: Laan M, Kasak...

Cardiology

Familial hypercholesterolaemia: history, diagnosis, screening, management and challenges

NewsemiaNovember 26, 2020

by NewsemiaNovember 26, 2020010

Learning objectives Acknowledge the history of familial hypercholesterolaemia (FH). Understand the pathophysiology of FH. Acknowledge the importance and significance of FH. Make a diagnosis of...

Latest News

Psychological flexibility may be the key to happy romantic and familial relationships

NewsemiaNovember 26, 2020

by NewsemiaNovember 26, 202005

“Happy families are all alike; every unhappy family is unhappy in its own way,” Leo Tolstoy wrote famously in 1878 in the opening lines of...

Cardiology

The familial and genetic contribution to the association between depression and cardiovascular disease: a twin cohort study.

NewsemiaNovember 22, 2020

by NewsemiaNovember 22, 202008

Related Articles The familial and genetic contribution to the association between depression and cardiovascular disease: a twin cohort study. Mol Psychiatry. 2020 Nov 20;: Authors:...

Latest News

Parents' Rights, Children's Religion: A Familial Relationship Goods Approach

NewsemiaNovember 18, 2020

by NewsemiaNovember 18, 202008

Swift, A; (2020) Parents’ Rights, Children’s Religion: A Familial Relationship Goods Approach. Journal of Practical Ethics (In press). Source link...

Gastroenterology

VIDEO: Odevixibat well tolerated in progressive familial intrahepatic cholestasis

NewsemiaNovember 17, 2020

by NewsemiaNovember 17, 2020014

In this exclusive video, Richard Thompson, MD, PhD, discussed results from two abstracts presented at The Liver Meeting Digital Experience on using odevixibat in progressive...

Neurology

Mutational analysis in familial Alzheimer’s disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile

NewsemiaNovember 13, 2020

by NewsemiaNovember 13, 202008

Mutational analysis in familial Alzheimer’s disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile Source link...

Gastroenterology

Endocytoscopic observation with methylene blue staining for duodenal neoplasms associated with familial adenomatous polyposis

NewsemiaNovember 5, 2020

by NewsemiaNovember 5, 2020016

Endocytoscopic observation with methylene blue staining for duodenal neoplasms associated with familial adenomatous polyposis Source link...

Neurology

A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia – A comprehensive mutational analysis-

NewsemiaNovember 4, 2020

by NewsemiaNovember 4, 2020020

Primary familial brain calcification (PFBC), traditionally described as Fahr’s disease or idiopathic basal ganglia calcification, is characterized by symmetric calcification in the basal ganglia and...

Cardiology

Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care.

NewsemiaOctober 16, 2020

by NewsemiaOctober 16, 2020011

Related Articles Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care. J Am Heart Assoc. 2019 07 02;8(13):e011822 Authors:...

Neurology

Familial aggregation of status epilepticus in generalized and focal epilepsies

NewsemiaOctober 14, 2020

by NewsemiaOctober 14, 2020012

Objective To determine whether familial aggregation of status epilepticus (SE) occurs in a large cohort of familial common epilepsies. Methods We used the Epilepsy Phenome/Genome...

Latest News

Measuring cortical mean diffusivity to assess early microstructural cortical change in presymptomatic familial Alzheimer's disease

NewsemiaSeptember 22, 2020

by NewsemiaSeptember 22, 2020011

Weston, PSJ; Poole, T; Nicholas, JM; Toussaint, N; Simpson, IJA; Modat, M; Ryan, NS; … Fox, NC; + view all Weston, PSJ; Poole, T; Nicholas,...

Neurology

Mutation analysis of LRP10 in a large Chinese familial Parkinson disease cohort.

NewsemiaSeptember 21, 2020

by NewsemiaSeptember 21, 2020011

Mutation analysis of LRP10 in a large Chinese familial Parkinson disease cohort. Neurobiol Aging. 2020 Aug 27;: Authors: Li C, Chen Y, Ou R, Gu...

Neurology

Association of education with A{beta} burden in preclinical familial and sporadic Alzheimer disease

NewsemiaSeptember 16, 2020

by NewsemiaSeptember 16, 2020020

Objective To determine whether years of education and the 4 risk allele at APOE influence β-amyloid (Aβ) pathology similarly in asymptomatic individuals with a family...

A case report of a coronary artery…

CLONAZEPAM tablet [Bryant Ranch Prepack]

Adaptation and preliminary psychometric properties of three…

HDR UK supporting mobilising computable biomedical knowledge…

Cardiovascular Deaths During the COVID-19 Pandemic in the…

QPP 2020 Extreme and Uncontrollable Circumstances Exception

New patent for Vertex Pharms drug SYMDEKO…

Reason for Optimism in the War on…

Shear wave cardiovascular MR elastography using intrinsic…

Using intravascular ultrasound image-based fluid-structure interaction models…

Newsemia

Tag : familial

Bad Gene Hunting-Sudden Unexplained Death and Familial Long QT Syndrome.

A Polygenic Risk Score for Low-density Lipoprotein Cholesterol is Associated with Risk of Ischemic Heart Disease and Enriches for Individuals with Familial Hypercholesterolemia.

The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect.

A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer's disease

Visuomotor integration deficits are common to familial and sporadic preclinical Alzheimer's disease

A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve.

NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.

Familial hypercholesterolaemia: history, diagnosis, screening, management and challenges

Psychological flexibility may be the key to happy romantic and familial relationships

The familial and genetic contribution to the association between depression and cardiovascular disease: a twin cohort study.

Parents' Rights, Children's Religion: A Familial Relationship Goods Approach

VIDEO: Odevixibat well tolerated in progressive familial intrahepatic cholestasis

Mutational analysis in familial Alzheimer’s disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile

Endocytoscopic observation with methylene blue staining for duodenal neoplasms associated with familial adenomatous polyposis

A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia – A comprehensive mutational analysis-

Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care.

Familial aggregation of status epilepticus in generalized and focal epilepsies

Measuring cortical mean diffusivity to assess early microstructural cortical change in presymptomatic familial Alzheimer's disease

Mutation analysis of LRP10 in a large Chinese familial Parkinson disease cohort.

Association of education with A{beta} burden in preclinical familial and sporadic Alzheimer disease