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https://www.readbyqxmd.com/read/29664137/msh-homeobox-1-polymorphisms-and-the-risk-of-non-syndromic-orofacial-clefts-a-meta-analysis
#1
Min Gu, Yan Zhang, Hualian Liu, Jue Liu, Danxia Zhu, Xu Yang
MSH homebox 1 (MSX1) is a susceptibility gene for non-syndromic orofacial clefts (NSOCs). Here, a meta-analysis was conducted to assess their associations. A systematic search of PubMed to 1 September 2017, was performed to retrieve all eligible studies. Odds ratios (ORs) were used to calculate the associations. The stability of the results was evaluated by sensitivity analysis. Publication bias was assessed using Begg's funnel plots and the Egger test. In silico Msx1 expression during early mouse craniofacial development was evaluated by the Gene Expression Omnibus...
April 17, 2018: European Journal of Oral Sciences
https://www.readbyqxmd.com/read/29659788/the-burden-and-benefits-of-caregiving-a-latent-class-analysis
#2
Teja Pristavec
Background and Objectives: Informal caregiving to older adults is a key part of the U.S. long-term care system. Caregivers' experiences consist of burden and benefits, but traditional analytic approaches typically consider dimensions independently, or cannot account for burden and benefit levels and combinations that co-occur. This study explores how benefits and burden simultaneously shape experiences of caregiving to older adults, and factors associated with experience types. Research Design and Methods: 2015 National Health and Aging Trends Study (NHATS) and National Study of Caregiving (NSOC) data were linked to obtain reports from caregivers and recipients...
April 6, 2018: Gerontologist
https://www.readbyqxmd.com/read/29609259/-progress-in-next-generation-sequencing-research-of-non-syndromic-oral-clefts
#3
M Y Wang, D J Liu, H Huang, W Y Li, R Zhou, H P Zhu, Z B Zhou, T Wu
Non-syndromic oral clefts (NSOC) are among the most common birth defects. The prevalence of NSOC is 1.13-1.30 per 1 000 live births in China, which is higher than those in other major ethnic groups. The etiology of NSOC is complex and heterogeneous, which involves both genetic and environmental risk factors. Although genome-wide association studies have identified a number of risk loci, these loci can only account for a small proportion of the heritability of NSOC. The next-generation sequencing research provides new ideas for further exploring the genetic risk factors of NSOC...
March 10, 2018: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/29484780/a-functional-polymorphism-in-the-pre-mir-146a-gene-is-associated-with-the-risk-of-non-syndromic-orofacial-cleft
#4
Yongchu Pan, Dandan Li, Shu Lou, Chi Zhang, Yifei Du, Hongbing Jiang, Weibing Zhang, Lan Ma, Lin Wang
microRNAs (miRNAs) are widely involved in craniofacial development, and genetic variants of miRNAs may be associated with the risk of non-syndromic orofacial cleft (NSOC). Here, we systematically selected five single nucleotide polymorphisms (SNPs) of miRNAs and investigated the associations between these variants and NSOC susceptibility in a two-stage case-control study including 1,406 NSOC patients and 1,578 controls from the Chinese population. We found that compared with the C allele, the rs2910164 G allele of pre-miR-146a was associated with an increased risk of NSOC (additive model: odds ratio (OR) = 1...
February 27, 2018: Human Mutation
https://www.readbyqxmd.com/read/29480205/inhibition-of-trpc1-dependent-store-operated-calcium-entry-improves-synaptic-stability-and-motor-performance-in-a-mouse-model-of-huntington-s-disease
#5
Jun Wu, Daniel Ryskamp, Lutz Birnbaumer, Ilya Bezprozvanny
BACKGROUND: Huntington disease (HD) is a dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene. We previously discovered that mutant Huntingtin sensitizes type 1 inositol 1,4,5-trisphosphate receptor (InsP3R1) to InsP3. This causes calcium leakage from the endoplasmic reticulum (ER) and a compensatory increase in neuronal store-operated calcium (nSOC) entry. We previously demonstrated that supranormal nSOC leads to synaptic loss in striatal medium spiny neurons (MSNs) in YAC128 HD mice...
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29247211/stim2-eb3-association-and-morphology-of-dendritic-spines-in-hippocampal-neurons
#6
Ekaterina Pchitskaya, Nina Kraskovskaya, Daria Chernyuk, Elena Popugaeva, Hua Zhang, Olga Vlasova, Ilya Bezprozvanny
Mushroom spines form strong synaptic contacts and are essential for memory storage. We have previously demonstrated that neuronal store-operated calcium entry (nSOC) in hippocampal neurons is regulated by STIM2 protein. This pathway plays a key role in stability of mushroom spines and is compromised in different mice models of Alzheimer's disease (AD). Actin was thought to be the sole cytoskeleton compartment presented in dendritic spines, however, recent studies demonstrated that dynamic microtubules with EB3 capped plus-ends transiently enter spines...
December 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29207917/functional-effects-of-snps-in-myh9-and-risks-of-nonsyndromic-orofacial-clefts
#7
Y Wang, D Li, Y Xu, L Ma, Y Lu, Z Wang, L Wang, W Zhang, Y Pan
Nonsyndromic orofacial clefts (NSOCs) are congenital newborn malformations. Myosin heavy chain 9 ( MYH9) is a candidate gene of NSOCs. To investigate the associations between single-nucleotide polymorphisms (SNPs) of MYH9 and NSOC susceptibility, a 2-stage case-control study was designed and 4 potentially functional SNPs of MYH9 (rs12107, rs2269529, rs9619601, rs5756130) were selected and genotyped by iPLEX Sequenom MassARRAY and TaqMan assay in the first stage (599 NSOC cases and 590 controls). The significant SNPs in the first stage were replicated in the second stage (676 NSOC cases and 705 controls) by TaqMan assay...
December 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29149498/association-between-a-single-nucleotide-polymorphism-in-the-grem1-gene-and-non-syndromic-orofacial-cleft-in-the-chinese-population
#8
Xiaotong Wang, Hongquan Song, Xiaohui Jiao, Yanru Hao, Wei Zhang, Yuwei Gao, Yong Li, Na Mi, Jiaqun Yan
BACKGROUND: Non-syndromic orofacial cleft (NSOC) is a common craniofacial deformity among newborns. The GREM1 gene is correlated with orofacial development. The aim of our study was to investigate the association between a single-nucleotide polymorphism in the GREM1 gene and this malformation in the Chinese population. METHODS: The SNaPshot mini-sequencing technique was used to genotype the locus rs1258763 of the GREM1 gene in 331 patients with NSOC and 271 individuals in a control group...
February 2018: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29091533/changing-structures-and-processes-to-support-family-caregivers-of-seriously-ill-patients
#9
Richard Schulz, Scott R Beach, Esther M Friedman, Grant R Martsolf, Juleen Rodakowski, A Everette James
BACKGROUND: Although family caregivers provide a significant portion of health and support services to adults with serious illness, they are often marginalized by existing healthcare systems and procedures. OBJECTIVE: We examine the role of caregivers in existing systems of care, identify needed changes in structures and processes, and describe how these changes might be monitored and assessed and who should be accountable for implementing them. DESIGN: Based on a broad assessment of the caregiving literature, the recent National Academy of Sciences Report on family caregiving, and descriptive data from two national surveys, we describe structural and process barriers that limit caregivers' ability to provide effective care...
March 2018: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/28833944/genetic-variants-of-microrna-processing-genes-and-risk-of-non-syndromic-orofacial-clefts
#10
M Xu, L Ma, S Lou, Y Du, X Yin, C Zhang, L Fan, H Wang, Z Wang, W Zhang, L Wang, Y Pan
OBJECTIVE: MicroRNA (miRNA) processing genes play important roles in the craniofacial development. The aim of this study was to explore the associations between single nucleotide polymorphisms (SNPs) of miRNA processing genes with the risk of non-syndromic orofacial clefts (NSOC). METHODS: We genotyped 12 potentially functional SNPs from seven miRNA processing genes (GEMIN3, DROSHA, DGCR8, GEMIN4, PIWIL1, XPO5, and DICER) in a case-control study of 602 NSOC cases and 605 controls...
August 20, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28489749/association-between-pax7-and-ntn1-gene-polymorphisms-and-nonsyndromic-orofacial-clefts-in-a-northern-chinese-population
#11
Qiang Guo, Dongmei Li, Xiangbiao Meng, Tingting Liu, Jinna Shi, Yanru Hao, Xiaohui Jiao, Kewen Lv, Tenglong Hu, Tao Song
BACKGROUND: Nonsyndromic orofacial clefts (NSOC) are the most common orofacial congenital defect with a complex etiology. Genome-wide association studies have identified paired box protein 7 (PAX7) and netrin-1 (NTN1) as candidate susceptibility genes for NSOC in both European and Asian populations. Here, possible associations between single-nucleotide polymorphisms (SNPs) in or near PAX7 and NTN1 were investigated in relation to risk of NSOC in a northern Chinese population. METHODS: A total of 602 individuals with NSOC and 510 controls were recruited from northern China...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28228451/african-american-stroke-survivors-more-caregiving-time-but-less-caregiving-burden
#12
COMPARATIVE STUDY
Lesli E Skolarus, Vicki A Freedman, Chunyang Feng, James F Burke
BACKGROUND: Blacks have higher stroke incidence and experience greater poststroke disability than whites. To optimize care for stroke survivors, it is important to understand the amount of care that they receive and the implications for stroke caregivers. METHODS AND RESULTS: Data from 2 nationally representative, population-based studies, the NHATS (National Health and Aging Trends Study) linked to the NSOC (National Study of Caregiving), were used to identify elderly stroke survivors and their caregivers...
February 2017: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/28210993/impact-of-caregiver-activities-and-social-supports-on-multidimensional-caregiver-burden-analyses-from-nationally-representative-surveys-of-cancer-patients-and-their-caregivers
#13
Michael T Halpern, Mallorie H Fiero, Melanie L Bell
PURPOSE: Informal caregivers of individuals with cancer may experience substantial burdens. To develop interventions to support these caregivers, it is crucial to quantify and understand the domains of burdens potentially experienced by caregivers and factors contributing to each domain. METHODS: Using data from two national surveys, the National Survey of Caregiving (NSOC) linked to the National Health and Aging Trends Survey (NHATS), we identified all participants in the NHATS diagnosed with cancer who had a caregiver participating in the NSOC...
June 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28152788/factors-affecting-multidimensional-caregiver-burden-results-from-national-surveys
#14
Mallorie Fiero, Melanie Bell
301 Background: Quality of care for individuals with cancer is affected by the burden on their caregivers. For high quality care, it is important to understand domains of caregiver burden and factors affecting this burden. METHODS: Using data from two national surveys, the National Survey of Caregiving (NSOC) linked to the National Health and Aging Trends Survey (NHATS), we identified all participants in the NHATS diagnosed with cancer who had a caregiver participating in the NSOC. Twenty-two items in the NSOC related to caregiver health, mood and outlook were included in factor analysis to develop scales capturing domains of burden...
March 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28089520/the-association-between-family-caregivers-involvement-in-managing-older-adults-medications-and-caregivers-information-seeking-behavior
#15
Marwa Noureldin, Matthew M Murawski, Holly L Mason, Gerald C Hyner, Kimberly S Plake
OBJECTIVES: 1) To explore the association between family caregivers' involvement in managing care recipients' medications and their information-seeking behavior related to caregiving; and 2) to examine the sources used by caregivers when seeking information. METHODS: A retrospective analysis of cross-sectional data from 2 national studies, the 2011 National Health and Aging Trends Study (NHATS) and its supplement, the National Study of Caregiving (NSOC), was conducted...
March 2017: Journal of the American Pharmacists Association: JAPhA
https://www.readbyqxmd.com/read/28068523/rs12941170-at-sox9-gene-associated-with-orofacial-clefts-in-chinese
#16
Zhong-Lin Jia, Sha He, Shu-Yuan Jiang, Bi-He Zhang, Shi-Jun Duan, Jia-Yu Shi, Ning Huang, Wen-Chao Zhu, Bing Shi
OBJECTIVE: Non-syndromic orofacial cleftings (NSOCs) are considered as complex trait, which results from genetic and/or environmental modifiers. Current findings could only explain small portion of the NSOCs. SOX9 gene plays an important role during craniofacial development in animal models and the Pierre Robin sequence (PRS). However, its role in non-syndromic clefts remains unknown. DESIGN: In this study, we selected eight SNPs in and around SOX9 gene to make maximum coverage, and genotyped them by using RFLP-PCR and ligase detection reaction (LDR) methods to test its associations among 151 NSOCs (53 NSCLP, 52 NSCLO and 46 NSCPO) from Western Han Chinese population...
December 30, 2016: Archives of Oral Biology
https://www.readbyqxmd.com/read/27881772/store-operated-calcium-channel-complex-in-postsynaptic-spines-a-new-therapeutic-target-for-alzheimer-s-disease-treatment
#17
Hua Zhang, Suya Sun, Lili Wu, Ekaterina Pchitskaya, Olga Zakharova, Klementina Fon Tacer, Ilya Bezprozvanny
Mushroom dendritic spine structures are essential for memory storage and the loss of mushroom spines may explain memory defects in aging and Alzheimer's disease (AD). The stability of mushroom spines depends on stromal interaction molecule 2 (STIM2)-mediated neuronal-store-operated Ca2+ influx (nSOC) pathway, which is compromised in AD mouse models, in aging neurons, and in sporadic AD patients. Here, we demonstrate that the Transient Receptor Potential Canonical 6 (TRPC6) and Orai2 channels form a STIM2-regulated nSOC Ca2+ channel complex in hippocampal mushroom spines...
November 23, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27641664/dysregulation-of-neuronal-calcium-homeostasis-in-alzheimer-s-disease-a-therapeutic-opportunity
#18
REVIEW
Elena Popugaeva, Ekaterina Pchitskaya, Ilya Bezprozvanny
Alzheimer's disease (AD) is the disease of lost memories. Synaptic loss is a major reason for memory defects in AD. Signaling pathways involved in memory loss in AD are under intense investigation. The role of deranged neuronal calcium (Ca2+ ) signaling in synaptic loss in AD is described in this review. Familial AD (FAD) mutations in presenilins are linked directly with synaptic Ca2+ signaling abnormalities, most likely by affecting endoplasmic reticulum (ER) Ca2+ leak function of presenilins. Excessive ER Ca2+ release via type 2 ryanodine receptors (RyanR2) is observed in AD spines due to increase in expression and function of RyanR2...
February 19, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27537108/genetic-variants-of-20q12-contributed-to-non-syndromic-orofacial-clefts-susceptibility
#19
X Yin, L Ma, Y Li, M Xu, W Wang, H Wang, H Yuan, Y Du, S Li, J Ma, H Jiang, L Wang, W Zhang, Y Pan
OBJECTIVE: Previous genomewide association studies (GWAS) identified a region near MAFB at chr20q12 associated with non-syndromic orofacial clefts (NSOC) susceptibility. However, whether other SNPs in this area could independently contribute to non-syndromic orofacial clefts in Chinese populations remained obscure. MATERIALS AND METHODS: We selected 24 SNPs based on a haplotype-tagging SNP strategy and evaluated their associations with risk of non-syndromic orofacial clefts in a large-scale two-stage case-control study with 1278 cases and 1295 controls...
January 2017: Oral Diseases
https://www.readbyqxmd.com/read/27520990/caregiving-setting-and-baby-boomer-caregiver-stress-processes-findings-from-the-national-study-of-caregiving-nsoc
#20
Heehyul Moon, Sunshine Rote, Jeff A Beaty
The aim of this study was to provide a comprehensive understanding of how the caregiving setting relates to caregiving experience among Baby Boomer caregivers (CGs). Based on a secondary data analysis (the National Study of Caregiving, N = 782), compared with CGs providing care to an older adult living in the community, CGs to older adults in non-NH residential care settings reported better emotional well-being, self-rated health, and relationship quality and less provision of assistance older adults with daily activities...
January 2017: Geriatric Nursing
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