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familial aggregation

Cynthia de Jesus Freire, Lucas Roberto da Silva Barbosa, João Gomes da Costa, Renata Guerda de Araújo Santos, Aldenir Feitosa Dos Santos
OBJECTIVE: To demonstrate the use of phytotherapy as a therapy adopted in the context of Primary Care to Childhood. METHOD: Observational and analytical field research, with quantitative-qualitative approach. A semi-structured survey was used on socio-demographic and ethnopharmacological variables, audio interview and daily observation. RESULTS: The production of knowledge about phytotherapy constitutes a family heritage, but incorporated data resulting from the daily experiences shared by the community...
2018: Revista Brasileira de Enfermagem
Danielle E Mor, Harry Ischiropoulos
In Parkinson's disease (PD), the loss of dopamine-producing neurons in the substantia nigra (SN) leads to severe motor impairment, and pathological inclusions known as Lewy bodies contain aggregated α-synuclein protein. The relationship of α-synuclein aggregation and dopaminergic degeneration is unclear. This commentary highlights a recent study showing that the interaction of α-synuclein with dopamine may be an important mechanism underlying disease. Elevating dopamine levels in mice expressing human α-synuclein with the A53T familial PD mutation recapitulated key features of PD, including progressive neurodegeneration of the SN and decreased ambulation...
2018: Journal of Experimental Neuroscience
Yuyuan Deng, Zhijie Niu, LiangLiang Fan, Jie Ling, Hongsheng Chen, Xinzhang Cai, Lingyun Mei, Chufeng He, Xuewei Zhang, Jie Wen, Meng Li, Wu Li, Taoxi Li, Shushan Sang, Yalan Liu, Yong Feng
X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SLC26A4, a novel truncated variant of SMPX, c.87dupA (p.Gly30Argfs*12) (NCBI ClinVar Submission ID: SUB3136126), was identified by whole-exome sequencing. This variant was co-segregated with hearing loss in the entire family and was absent in 576 unrelated ethnically and geographically matched controls...
March 20, 2018: Journal of Human Genetics
Fazhao Li, Han Xiao, Zhiping Hu, Fangfang Zhou, Binbin Yang
HSPB8 is a member of ubiquitous small heat shock protein (sHSP) family, whose expression is induced in response to a wide variety of unfavorable physiological and environmental conditions. Investigation of HSPB8 structure indicated that HSPB8 belongs to the group of so-called intrinsically disordered proteins and possesses a highly flexible structure. Unlike most other sHSPs, HSPB8 tends to form small-molecular-mass oligomers and exhibits substrate-dependent chaperone activity. In cooperation with BAG3, the chaperone activity of HSPB8 was reported to be involved in the delivery of misfolded proteins to the autophagy machinery...
March 13, 2018: European Journal of Cell Biology
Ali R Keramati, Lisa R Yanek, Kruthika Iyer, Margaret A Taub, Ingo Ruczinski, Diane M Becker, Lewis C Becker, Nauder Faraday, Rasika A Mathias
Coronary artery disease (CAD) remains a major cause of mortality and morbidity worldwide. The aggregation of activated platelets on a ruptured atherosclerotic plaque is a critical step in most acute cardiovascular events like myocardial infarction. Platelet aggregation both at baseline and after aspirin is highly heritable. Genome-wide association studies (GWAS) have identified a common variant within the first intron of the platelet endothelial aggregation receptor1 (PEAR1), to be robustly associated with platelet aggregation...
March 19, 2018: Platelets
Rahul Suresh Bhansali, Ramreddy Krishnarao Yeltiwar, Kishore Bhat
Background: Association of neutrophil function abnormalities with localized aggressive periodontitis (LAP) has been reported in Indian population. There are no published studies on the familial aggregation of aggressive periodontitis (AP) and neutrophil function abnormalities associated with it in Indian population. The present study aimed to assess neutrophil chemotaxis, phagocytosis, and microbicidal activity in AP patients and their family members of Indian origin, who may or may not be suffering from AP...
November 2017: Journal of Indian Society of Periodontology
Parisa Naseri, Soheila Khodakarim, Kamran Guity, Maryam S Daneshpour
BACKGROUND: Mechanisms of metabolic syndrome (MetS) causation are complex, genetic and environmental factors are important factors for the pathogenesis of MetS In this study, we aimed to evaluate familial and genetic influences on metabolic syndrome risk factor and also assess association between FTO (rs1558902 and rs7202116) and CETP(rs1864163) genes' single nucleotide polymorphisms (SNP) with low HDL_C in the Tehran Lipid and Glucose Study (TLGS). MATERIALS AND METHODS: The design was a cross-sectional study of 1776 members of 227 randomly-ascertained families...
March 14, 2018: Gene
Kiminobu Tanizawa, Kazuo Chin
Sleep-disordered breathing (SDB) is characterized by repetitive episodes of decreased or arrested respiratory airflow during sleep. SDB is common and affects approximately 20% of the Japanese general population. Most traits of normal sleep and SDB show familial aggregation, suggesting significant effects of genetic factors. Obstructive sleep apnea (OSA) is the most common type of SDB and has a high heritability. Regardless of high heritability, no risk locus for OSA has reached a genome-wide level of significance (P < 5×10-8 ) in linkage or candidate gene analysis...
March 2018: Respiratory Investigation
Xue-Yang Jiang, Ting-Kai Chen, Jun-Ting Zhou, Si-Yu He, Hong-Yu Yang, Yao Chen, Wei Qu, Feng Feng, Hao-Peng Sun
Designing multitarget-directed ligands (MTDLs) is considered to be a promising approach to address complex and multifactorial maladies such as Alzheimer's disease (AD). The concurrent inhibition of the two crucial AD targets, glycogen synthase kinase-3β (GSK-3β) and human acetylcholinesterase ( h AChE), might represent a breakthrough in the quest for clinical efficacy. Thus, a novel family of GSK-3β/AChE dual-target inhibitors was designed and synthesized. Among these hybrids, 2f showed the most promising profile as a nanomolar inhibitor on both h AChE (IC50 = 6...
March 8, 2018: ACS Medicinal Chemistry Letters
Julia N Bailey, Laurence de Nijs, Dongsheng Bai, Toshimitsu Suzuki, Hiroyuki Miyamoto, Miyabi Tanaka, Christopher Patterson, Yu-Chen Lin, Marco T Medina, María E Alonso, José M Serratosa, Reyna M Durón, Viet H Nguyen, Jenny E Wight, Iris E Martínez-Juárez, Adriana Ochoa, Aurelio Jara-Prado, Laura Guilhoto, Yolly Molina, Elsa M Yacubian, Minerva López-Ruiz, Yushi Inoue, Sunao Kaneko, Shinichi Hirose, Makiko Osawa, Hirokazu Oguni, Shinji Fujimoto, Thierry M Grisar, John M Stern, Kazuhiro Yamakawa, Bernard Lakaye, Antonio V Delgado-Escueta
BACKGROUND: In juvenile myoclonic epilepsy, data are limited on the genetic basis of networks promoting convulsions with diffuse polyspikes on electroencephalography (EEG) and the subtle microscopic brain dysplasia called microdysgenesis. METHODS: Using Sanger sequencing, we sequenced the exomes of six members of a large family affected with juvenile myoclonic epilepsy and confirmed cosegregation in all 37 family members. We screened an additional 310 patients with this disorder for variants on DNA melting-curve analysis and targeted real-time DNA sequencing of the gene encoding intestinal-cell kinase ( ICK)...
March 15, 2018: New England Journal of Medicine
Christopher Steven Marcum, Megan R Goldring, Colleen M McBride, Susan Persky
Background: Meal construction is largely governed by nonconscious and habit-based processes that can be represented as a collection of in dividual, micro-level food choices that eventually give rise to a final plate. Despite this, dietary behavior intervention research rarely captures these micro-level food choice processes, instead measuring outcomes at aggregated levels. This is due in part to a dearth of analytic techniques to model these dynamic time-series events. Purpose: The current article addresses this limitation by applying a generalization of the relational event framework to model micro-level food choice behavior following an educational intervention...
February 17, 2018: Annals of Behavioral Medicine: a Publication of the Society of Behavioral Medicine
Nazario Martin, Alicia López-Andarias, Javier López-Andarias, Carmen Atienza, Francisco J Chichón, José L Carrascosa
Supramolecular chemistry has evolved from the traditional focus on thermodynamic on-pathways to the complex study of kinetic off-pathways, which are strongly dependent of the environmental conditions. Moreover, the control over pathway complexity allows obtaining nanostructures that are inaccessible through spontaneous thermodynamic processes. Here, we present a family of peptide-based π-extended tetrathiafulvalene (exTTF) molecules which show two self-assembly pathways leading to two distinct J-aggregates, namely metastable (M) and thermodynamic (T), with different spectroscopic, chiroptical and electrochemical behavior...
March 14, 2018: Chemistry: a European Journal
Rohini Karunakaran, P S Srikumar
The crystallins are a family of monomeric proteins present in the mammalian lens and mutations in these proteins cause various forms of cataracts. The aim of our current study is to emphasize the structural characterization of aggregation propensity of mutation R58H on γD crystallin using molecular dynamics (MD) approach. MD result revealed that difference in the sequence level display a wide variation in the backbone atomic position, and thus exhibits rigid conformational dynamics. Changes in the flexibility of residues favoured to increase the number of intra-molecular hydrogen bonds in mutant R58H...
March 12, 2018: Molecular and Cellular Biochemistry
Sei Kuriyama, Tadahiro Tsuji, Tetsushi Sakuma, Takashi Yamamoto, Masamistu Tanaka
The anti-apoptotic nature of cancer cells often impedes the effects of anti-cancer therapeutic agents. Multiple death signals influence mitochondria during apoptosis, and though many studies have attempted to elucidate these complicated pathways, Bax oligomerization, an important step in the process, remains controversial. Here we demonstrate that pleckstrin-homology N1 (PLEKHN1), also known as cardiolipin phosphatidic acid binding protein, plays pro-apoptotic roles during reactive oxygen species (ROS)-induced apoptosis...
December 2018: Cell Death Discovery
Ian M MacDonald, Pamela C Sieving
PURPOSE: To review the contributions to ophthalmic genetics through the American Journal of OphthalmologyDesign: Perspective. METHODS: A literature search to retrieve original articles, letters, editorials, and published lectures from 1966 to 2017, providing a 50 year review. Titles were excluded that gave no reference to genetics or presented findings related to a non-genetic ocular condition. RESULTS: From a search of the Scopus database, 719 articles were ascertained...
March 9, 2018: American Journal of Ophthalmology
Timothy C Bates, Brion S Maher, Sarah E Medland, Kerrie McAloney, Margaret J Wright, Narelle K Hansell, Kenneth S Kendler, Nicholas G Martin, Nathan A Gillespie
Research on environmental and genetic pathways to complex traits such as educational attainment (EA) is confounded by uncertainty over whether correlations reflect effects of transmitted parental genes, causal family environments, or some, possibly interactive, mixture of both. Thus, an aggregate of thousands of alleles associated with EA (a polygenic risk score; PRS) may tap parental behaviors and home environments promoting EA in the offspring. New methods for unpicking and determining these causal pathways are required...
March 13, 2018: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
Ciqing Tong, Tingxian Liu, Victorio Saez Talens, Willem E M Noteborn, Thomas H Sharp, Marco M R M Hendrix, Ilja K Voets, Christine L Mummery, Valeria V Orlova, Roxanne E Kieltyka
Synthetic hydrogel materials can recapitulate the natural cell microenvironment; however, it is equally necessary that the gels maintain cell viability and phenotype while permitting reisolation without stress, especially for use in the stem cell field. Here, we describe a family of synthetically accessible, squaramide-based tripodal supramolecular monomers consisting of a flexible tris(2-aminoethyl)amine (TREN) core that self-assemble into supramolecular polymers and eventually into self-recovering hydrogels...
March 12, 2018: Biomacromolecules
M Q Chan, A E Blum, A K Chandar, A M L Kieber Emmons, Y Shindo, W Brock, G W Falk, M I Canto, J S Wang, P G Iyer, N J Shaheen, W M Grady, J A Abrams, P N Thota, K K Guda, A Chak
Barrett's esophagus (BE) is the only known precursor to esophageal adenocarcinoma (EAC). Based on striking aggregation of breast cancer and BE/EAC within families as well as shared risk factors and molecular mechanisms of carcinogenesis, we hypothesized that BE may be associated with breast cancer. Pedigree analysis of families identified prospectively at multiple academic centers as part of the Familial Barrett's Esophagus Consortium (FBEC) was reviewed and families with aggregation of BE/EAC and breast cancer are reported...
March 7, 2018: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
Julian Macoveanu, William Baaré, Kristoffer H Madsen, Lars Vedel Kessing, Hartwig Roman Siebner, Maj Vinberg
Background: Major depression and bipolar disorders aggregates in families and are linked with a wide range of neurobiological abnormalities including cortical gray matter (GM) alterations. Prospective studies of individuals at familial risk may expose the neural mechanisms underlying risk transmission. Methods: We used voxel based morphometry to investigate changes in regional GM brain volume, over a seven-year period, in 37 initially healthy individuals having a mono- or di-zygotic twin diagnosed with major depression or bipolar disorder (high-risk group; mean age 41...
2018: NeuroImage: Clinical
J Contreras, E Hare, G Chavarría-Soley, H Raventós
BACKGROUND: Genetic studies have been consistent that bipolar disorder type I (BPI) runs in families and that this familial aggregation is strongly influenced by genes. In a preliminary study, we proved that anxiety trait meets endophenotype criteria for BPI. METHODS: We assessed 619 individuals from the Central Valley of Costa Rica (CVCR) who have received evaluation for anxiety following the same methodological procedure used for the initial pilot study. Our goal was to conduct a multipoint quantitative trait linkage analysis to identify quantitative trait loci (QTLs) related to anxiety trait in subjects with BPI...
December 11, 2017: Journal of Affective Disorders
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