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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 (Ca(2+)) signaling in synaptic loss in AD is described in this review. Familial AD (FAD) mutations in presenilins are linked directly with synaptic Ca(2+) signaling abnormalities, most likely by affecting endoplasmic reticulum (ER) Ca(2+) leak function of presenilins. Excessive ER Ca(2+) release via type 2 ryanodine receptors (RyanR2) is observed in AD spines due to increase in expression and function of RyanR2...
September 15, 2016: Biochemical and Biophysical Research Communications
Xiaoqing Yin, Lan Ma, Yuan Li, Min Xu, Wei Wang, Hua Wang, Hua Yuan, Yifei Du, Sheng Li, Junqing Ma, Hongbing Jiang, Lin Wang, Weibing Zhang, Pan Yongchu
OBJECTIVE: Previous genome-wide 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 1,278 cases and 1,295 controls...
August 18, 2016: Oral Diseases
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...
August 9, 2016: Geriatric Nursing
Dandan Li, Hongchuang Zhang, Lan Ma, Yue Han, Min Xu, Zhendong Wang, Hongbing Jiang, Weibing Zhang, Lin Wang, Yongchu Pan
We hypothesized that microRNA binding site single nucleotide polymorphisms (SNPs) in fibroblast growth factors (FGFs) and their receptor genes (FGFRs) may affect microRNA and mRNA interactions and are thereby associated with susceptibility of non-syndromic orofacial cleft (NSOC). Ten SNPs among the FGF and FGFR genes were selected and their associations with NSOC susceptibility were investigated in a case-control study of 602 patients with NSOC and 605 healthy controls. FGF2/rs1048201, FGF5/rs3733336 and FGF9/rs546782 showed suggestive association with NSOC susceptibility...
2016: Scientific Reports
Jennifer L Wolff, Brenda C Spillman, Vicki A Freedman, Judith D Kasper
IMPORTANCE: Family and unpaid caregivers commonly help older adults who are at high risk for poorly coordinated care. OBJECTIVE: To examine how caregivers' involvement in older adults' health care activities relates to caregiving responsibilities, supportive services use, and caregiving-related effects. DESIGN, SETTING, AND PARTICIPANTS: A total of 1739 family and unpaid caregivers of 1171 community-dwelling older adults with disabilities who participated in the 2011 National Health and Aging Trends Study (NHATS) and National Study of Caregiving (NSOC)...
March 2016: JAMA Internal Medicine
Xiaojun Wang, Jingshun Zhuang, Yingjuan Fu, Guoyu Tian, Zhaojiang Wang, Menghua Qin
A combined process of lime treatment and mixed bed ion exchange was proposed to separate hemicellulose-derived saccharides (HDS) from prehydrolysis liquor (PHL) of lignocellulose as value added products. The optimization of lime treatment achieved up to 44.2% removal of non-saccharide organic compounds (NSOC), mainly colloidal substances, with negligible HDS degradation at 0.5% lime level and subsequent neutralization by phosphoric acid. The residual NSOC and calcium ions in lime-treated PHL were eliminated by mixed bed ion exchange...
April 2016: Bioresource Technology
Yajing Qian, Dandan Li, Lan Ma, Hongchuang Zhang, Miao Gong, Sheng Li, Hua Yuan, Weibing Zhang, Junqing Ma, Hongbing Jiang, Yongchu Pan, Lin Wang
Located at 15q22 a susceptibility region for nonsyndromic orofacial clefts (NSOC), TPM1 encodes a group of highly conserved ubiquitous actin-binding proteins involved in the muscle contraction and cytoskeleton organization. Considering the multiple functions of TPM1 gene, we investigated the potential relationship between TPM1 polymorphisms and risk of NSOC in a Chinese Han population. Four tag single nucleotide polymorphisms (tSNPs) of TPM1 (rs11071720, rs3803499, rs12148828, and rs1972041) were selected to conduct a case-control study with 673 NSOC patients and 705 unrelated healthy controls from a Chinese Han population...
May 2016: American Journal of Medical Genetics. Part A
Hua Zhang, Lili Wu, Ekaterina Pchitskaya, Olga Zakharova, Takashi Saito, Takaomi Saido, Ilya Bezprozvanny
Alzheimer's disease (AD) is the most common reason for elderly dementia in the world. We proposed that memory loss in AD is related to destabilization of mushroom postsynaptic spines involved in long-term memory storage. We demonstrated previously that stromal interaction molecule 2 (STIM2)-regulated neuronal store-operated calcium entry (nSOC) in postsynaptic spines play a key role in stability of mushroom spines by maintaining activity of synaptic Ca(2+)/calmodulin kinase II (CaMKII). Furthermore, we demonstrated previously that the STIM2-nSOC-CaMKII pathway is downregulated in presenilin 1 M146V knock-in (PS1-M146V KI) mouse model of AD, leading to loss of hippocampal mushroom spines in this model...
September 30, 2015: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Yanru Hao, Subao Tian, Xiaohui Jiao, Na Mi, Bing Zhang, Tao Song, Le An, Xudong Zheng, Deshu Zhuang
The aim of present study was to check the possible association of potential parental environmental exposures and maternal supplementation intake with the risk of nonsyndromic orofacial clefting (NSOC). A retrospective study comprised 499 cases and 480 controls was conducted in Heilongjiang Province. Chi-square analysis and unconditional multiple logistic regression were used in the study. The results showed that maternal history of fever and the common cold without fever (ORCL/P = 3.11 and 5.56, 95%CI: 1.67-5...
September 2015: Nutrients
Steven A Cohen, Sarah Cook, Lauren Kelley, Trisha Sando, Allison E Bell
BACKGROUND: Over 50 million informal caregivers in the United States provide care to an aging adult, saving the economy hundreds of billions of dollars annually from costly hospitalization or institutionalization. Despite the benefits associated with caregiving, caregiver stress can lead to negative physical and mental health consequences, or "caregiver burden". Given these potential negative consequences of caregiver burden, it is important not only to understand the multidimensional components of burden but to also understand the experience from the perspective of the caregiver themselves...
2015: Health and Quality of Life Outcomes
Qiongqiong Yu, Sha He, Ni Zeng, Jian Ma, Bihe Zhang, Bing Shi, Zhonglin Jia
BACKGROUND: Nonsyndromic orofacial clefts (NSOCs) are the most common craniofacial birth defects with complex etiology in which multiple genes and environmental exposures are involved. Bone morphogenetic protein 7 (BMP7), as a member of the transforming growth factor-beta (TGF-beta) superfamily, has been shown to play crucial roles in palate and other orofacial ectodermal appendages development in animal models. MATERIAL AND METHODS: This study was designed to investigate the possible associations between BMP7 gene and the NSOCs (221 case-parent trios) in Western Han Chinese...
May 2015: Medicina Oral, Patología Oral y Cirugía Bucal
Ni Zeng, Jun Wu, Wen-Chao Zhu, Bing Shi, Zhong-Lin Jia
BACKGROUND: Non-syndromic orofacial clefts (NSOCs) are complex disease involving genetic triggers, environmental factors, and their interplay. Recent studies demonstrated that EYA1, a member of eye absent gene family, might contribute to NSOCs. METHODS: We investigated three single nucleotide polymorphisms (SNPs) and eight environmental factors (multivitamin, folic acid and calcium supplementation history, maternal alcohol consumption, common cold history, maternal smoking and environmental tobacco smoke in the first trimester, and paternal smoking in the 3 months before pregnancy) among 294 case-parent trios and 183 individual controls in western Han Chinese to evaluate the relationship between EYA1, environmental factors, and NSOCs...
November 2015: Journal of Oral Pathology & Medicine
Heehyul Moon, Peggye Dilworth-Anderson
BACKGROUND: Previous studies have well documented the characteristics of baby boomers but less is known about the experiences of boomer caregivers (CGs) of people with dementia. OBJECTIVE: The purpose of this study was to compare the characteristics of boomer CGs of people with dementia with those of boomer CGs for people without dementia and to ascertain factors associated with outcomes. DESIGN: We selected baby boomer CGs from the National Study of Caregiving (NSOC) with 650 primary boomer CGs (138 CGs of people with dementia and 512 CGs of people without dementia)...
March 2015: Age and Ageing
Yanru Hao, Na Mi, Xiaohui Jiao, Xudong Zheng, Tao Song, Deshu Zhuang, Subao Tian, Dongfei Feng
OBJECTIVES: Non-syndromic orofacial clefts (NSOC) are the most common human craniofacial malformation in all worldwide populations. Recently, the jumoji AT-rich interaction domain 2 (JARID2) had been reported to be a novel candidate gene for non-syndromic cleft lip with or without cleft palate (CL/P). The SNPs rs2076056, rs2237138 and rs2299043 in JARID2 were highly significant in Italian families. MATERIAL AND METHODS: In the current research, a case-control study was conducted to examine the association between these three SNPs and NSOC in a northern Chinese Han population...
May 2015: Journal of Oral Pathology & Medicine
Leonardo Santos Antunes, Caroline Pelagio Raick Maués, Mariana Rocha Nadaes, Marcelo Castro Costa, Erika Calvano Küchler, Lívia Azeredo Alves Antunes
This study aimed to assess the impact of nonsyndromic oral cleft (NSOC) on families' quality of life (QoL) using the Brazilian version of the Family Impact Scale (B-FIS). A hospital-based case-control study was conducted with NSOC cases and unaffected controls recruited at Dental Clinic in Federal University. The mean B-FIS scores were 10.32 (SD 6.53) and 5.04 (SD 4.73), while the median scores were 9.00 and 3.50 (p < .05 Wilcoxon test), respectively, in case and control group. The "parental/family activity" subscale had the highest impact average score in case (5...
May 2014: Special Care in Dentistry
Suya Sun, Hua Zhang, Jie Liu, Elena Popugaeva, Nan-Jie Xu, Stefan Feske, Charles L White, Ilya Bezprozvanny
Mushroom dendritic spine structures are essential for memory storage, and the loss of mushroom spines may explain memory defects in Alzheimer's disease (AD). Here we show a significant reduction in the fraction of mushroom spines in hippocampal neurons from the presenilin-1 M146V knockin (KI) mouse model of familial AD (FAD). The stabilization of mushroom spines depends on STIM2-mediated neuronal store-operated calcium influx (nSOC) and continuous activity of Ca(2+)/calmodulin-dependent protein kinase II (CaMKII)...
April 2, 2014: Neuron
L Ma, M Xu, D Li, Y Han, Z Wang, H Yuan, J Ma, W Zhang, H Jiang, Y Pan, L Wang
MSX1 is a favorable candidate gene for susceptibility to non-syndromic orofacial clefts (NSOCs). However, the roles of MSX1 genetic variants in the development of NSOC are controversial and vary among human populations. In the present study, the roles of 4 potentially functional single-nucleotide polymorphisms (SNPs) of MSX1 (rs12532 in 3'-untranslated region [UTR], and rs3821947, rs3821949, and rs4464513 in 5' upstream) were investigated in a case-control study of 602 NSOC cases and 605 healthy controls. The findings showed that rs12532 located within 3'-UTR of MSX1 could influence the risk of developing NSOC...
June 2014: Journal of Dental Research
Yue Han, Lian Zhou, Lan Ma, Dandan Li, Min Xu, Hua Yuan, Junqing Ma, Weibing Zhang, Hongbing Jiang, Yunong Wu, Lin Wang, Yongchu Pan
BACKGROUND: The axis inhibition protein 2 (AXIN2) is an important regulator of β-catenin degradation in the Wnt pathway, which plays a key role in craniofacial morphogenesis. The goal of this study was to investigate the potential relationship between AXIN2 polymorphisms and the risks of non-syndromic orofacial clefts (NSOC) in a Chinese Han population. METHODS: Four polymorphisms of AXIN2 (rs2240307, rs11867417, rs2240308, and rs7591) were selected to perform a case-control study with 599 NSOC cases and 602 healthy individuals from a Chinese Han population...
August 2014: Journal of Oral Pathology & Medicine
Collin M Torok, Cindy Lee, Paul Nagy, David M Yousem, Jonathan S Lewin
OBJECTIVE: The purpose of this study was to characterize the performance of the Neuroradiology Second Opinion Consultation Service (NSOCS) at our institution to establish the rate, causes, and implications of requests for repeat imaging. MATERIALS AND METHODS: We queried 11,753 complete reports of all NSOCS studies for calendar year 2010 for the words "repeat" and "follow-up." We categorized study limitations described in these reports into poor image quality, missing or inadequate MR sequences or CT reformats, lack of IV contrast administration where otherwise deemed appropriate, an "other" category for miscellaneous items, and a "clarification" category for indeterminate findings or recommendations for more advanced protocols...
November 2013: AJR. American Journal of Roentgenology
Elena Popugaeva, Ilya Bezprozvanny
Alzheimer's disease (AD) is the threat of modern humankind that is provoked by increased human lifespan. Despite extensive studies on AD pathology for more than 100 years, there are no disease-preventing therapies. Growing evidence suggests the role of calcium (Ca2+) in the pathogenesis of AD. The main purpose of the article is to understand whether modern science is able to explain the synapse loss observed in early AD and discuss the role of Ca2+ hypothesis in it. Based on results obtained in our laboratory and others, we propose that familial AD-associated mutations in presenilins cause a Ca2+ overload of endoplasmic reticulum stores which leads to compensatory downregulation of the neuronal store-operated Ca2+ (nSOC) entry pathway...
2014: Neuro-degenerative Diseases
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