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https://www.readbyqxmd.com/read/28320158/addressing-post-stroke-care-in-rural-areas-with-peru-as-a-case-study-placing-emphasis-on-evidence-based-pragmatism
#1
REVIEW
J Jaime Miranda, Miguel G Moscoso, Lijing L Yan, Francisco Diez-Canseco, Germán Málaga, Hector H Garcia, Bruce Ovbiagele
Stroke is a major cause of death and disability, with most of its burden now affecting low- and middle-income countries (LMIC). People in rural areas of LMIC who have a stroke receive very little acute stroke care and local healthcare workers and family caregivers in these regions lack the necessary knowledge to assist them. Intriguingly, a recent rapid growth in cell-phone use and digital technology in rural areas has not yet been appropriately exploited for health care training and delivery purposes. What should be done in rural areas, at the community setting-level, where access to healthcare is limited remains a challenge...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319885/bacterioplankton-assembly-and-interspecies-interaction-indicating-increasing-coastal-eutrophication
#2
Wenfang Dai, Jinjie Zhang, Qichao Tu, Ye Deng, Qiongfen Qiu, Jinbo Xiong
Anthropogenic perturbations impose negative effects on coastal ecosystems, such as increasing levels of eutrophication. Given the biogeochemical significance of microorganisms, understanding the processes and mechanisms underlying their spatial distribution under changing environmental conditions is critical. To address this question, we examined how coastal bacterioplankton communities respond to increasing eutrophication levels created by anthropogenic perturbations. The results showed that the magnitude of changes in the bacterioplankton community compositions (BCCs) and the importance of deterministic processes that constrained bacterial assembly were closely associated with eutrophication levels...
March 9, 2017: Chemosphere
https://www.readbyqxmd.com/read/28319788/functional-and-dysfunctional-impulsivity-and-attempted-suicide-in-rural-china-a-paired-case-control-study
#3
Yang-Yang Liu, Xin-Ting Wang, Hui-Min Qiu, Ai-Qiang Xu, Cun-Xian Jia
This study aimed to clarify the relationship between functional and dysfunctional impulsivity and attempted suicide in rural China. Data of this study came from the investigation of 407 suicide attempters and their paired non-suicide attempters matched with the same gender, age (±3 years) and residence area in six counties in rural Shandong, China. Suicide attempters accounted for a lower proportion on high functional impulsivity, but a higher proportion on high dysfunctional impulsivity than non-suicide attempters...
March 14, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28319682/n-substituted-5-amino-1-hydroxymethyl-cyclopentanetriols-a-new-family-of-activity-promotors-for-a-gm1-gangliosidosis-related-human-lysosomal-%C3%AE-galactosidase-mutant
#4
Michael Schalli, Christina Tysoe, Roland Fischer, Bettina M Pabst, Martin Thonhofer, Eduard Paschke, Tanja Rappitsch, Arnold E Stütz, Marion Tschernutter, Werner Windischhofer, Stephen G Withers
From 1,2;3,4-di-O-isopropylidene-α-D-galactopyranose, a series of highly functionalized (hydroxymethyl)cyclopentanes was easily available. In line with reports by Reymond and Jäger on similar structures, these amine containing basic carbasugars are potent inhibitors of β-D-galactosidases and, for the first time, could be shown to act as pharmacological chaperones for GM1-gangliosidosis-associated lysosomal acid β-galactosidase mutant R201C, thus representing a new structural type of pharmacological chaperones for this lysosomal storage disease...
March 11, 2017: Carbohydrate Research
https://www.readbyqxmd.com/read/28319438/systemic-deregulation-of-autophagy-upon-loss-of-als-and-ftd-linked-c9orf72
#5
Yon Ji, Janet Ugolino, Nathan Ryan Brady, Anne Hamacher-Brady, Jiou Wang
A genetic mutation in the C9orf72 gene causes the most common forms of neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The C9orf72 protein, predicted to be a DENN-family protein, is reduced in ALS and FTD, but its functions remain poorly understood. Using a 3110043O21Rik/C9orf72 knockout mouse model, as well as cellular analysis, we have found that loss of C9orf72 causes alterations in the signaling states of central autophagy regulators. In particular, C9orf72 depletion leads to reduced activity of MTOR, a negative regulator of macroautophagy/autophagy, and concomitantly increased TFEB levels and nuclear translocation...
March 20, 2017: Autophagy
https://www.readbyqxmd.com/read/28319412/un-methylation-of-the-survivin-gene-has-no-effect-on-immunohistochemical-expression-of-survivin-protein-in-lung-cancer-patients-with-squamous-cell-carcinoma
#6
O Yalcin, M Budak
Survivin is a member of the inhibitor of apoptosis (IAP) family. The function of the survivin protein is to inhibit caspase activation, thereby leading to negative regulation of apoptosis or programmed cell death. This has been shown by the disruption of survivin induction pathways leading to an increased apoptosis and decreased tumour growth. These data suggest that survivin may provide a new target for cancer treatment, which would distinguish transformed cells from normal cells. In the present study, we aimed to investigate exon 1 of the survivin gene by means of methylation-specific PCR and evaluate its impact on survivin protein expression following DNA isolation and bisulphite modification in paraffin-embedded normal and tumour tissues of lung cancer patients with squamous cell carcinoma...
2017: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/28319273/gastric-microbiota-features-associated-with-cancer-risk-factors-and-clinical-outcomes-a-pilot-study-in-gastric-cardia-cancer-patients-from-shanxi-china
#7
Guoqin Yu, Nan Hu, Lemin Wang, Chaoyu Wang, Xiao-You Han, Mike Humphry, Jacques Ravel, Christian C Abnet, Philip R Taylor, Alisa M Goldstein
Little is known about the link between gastric microbiota and the epidemiology of gastric cancer. In order to determine the epidemiologic and clinical relevance of gastric microbiota, we used 16S ribosomal RNA gene sequencing analysis to characterize the composition and structure of the gastric microbial community of 80 paired samples (non-malignant and matched tumor tissues) from gastric cardia adenocarcinoma (GCA) patients in Shanxi, China. We also used PICRUSt to predict microbial functional profiles. Compared to patients without family history of upper gastrointestinal (UGI) cancer in the non-malignant gastric tissue microbiota, patients with family history of UGI cancer had higher Helicobacter pylori (Hp) relative abundance (median: 0...
March 20, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28319083/structures-of-human-o-glcnacase-and-its-complexes-reveal-a-new-substrate-recognition-mode
#8
Baobin Li, Hao Li, Lei Lu, Jiaoyang Jiang
Human O-GlcNAcase (hOGA) is the unique enzyme responsible for the hydrolysis of the O-linked β-N-acetyl glucosamine (O-GlcNAc) modification, an essential protein glycosylation event that modulates the function of numerous cellular proteins in response to nutrients and stress. Here we report crystal structures of a truncated hOGA, which comprises the catalytic and stalk domains, in apo form, in complex with an inhibitor, and in complex with a glycopeptide substrate. We found that hOGA forms an unusual arm-in-arm homodimer in which the catalytic domain of one monomer is covered by the stalk domain of the sister monomer to create a substrate-binding cleft...
March 20, 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28319066/nucleus-accumbens-associated-protein-1-promotes-glycolysis-and-survival-of-hypoxic-tumor-cells-via-the-hdac4-hif-1%C3%AE-axis
#9
Y Zhang, Y-J Ren, L-C Guo, C Ji, J Hu, H-H Zhang, Q-H Xu, W-D Zhu, Z-J Ming, Y-S Yuan, X Ren, J Song, J-M Yang
Nucleus accumbens-associated protein-1 (NAC1), a nuclear factor of the BTB/POZ gene family, has emerging roles in cancer. In this study, we identified the NAC1-HDAC4-HIF-1α axis as an important pathway in regulating glycolysis and hypoxic adaptation in tumor cells. We show that nuclear NAC1 binds to histone deacetylase type 4 (HDAC4), hindering phosphorylation of HDAC4 at Ser(246) and preventing its nuclear export that leads to cytoplasmic degradation of the deacetylase. Accumulation of HDAC4 in the nuclei results in an attenuation of HIF-1α acetylation, enhancing the stabilization and transcriptional activity of HIF-1α and strengthening adaptive response of cells to hypoxia...
March 20, 2017: Oncogene
https://www.readbyqxmd.com/read/28319063/compromised-brca1-palb2-interaction-is-associated-with-breast-cancer-risk
#10
T K Foo, M Tischkowitz, S Simhadri, T Boshari, N Zayed, K A Burke, S H Berman, P Blecua, N Riaz, Y Huo, Y C Ding, S L Neuhausen, B Weigelt, J S Reis-Filho, W D Foulkes, B Xia
The major breast cancer suppressor proteins BRCA1 and BRCA2 play essential roles in homologous recombination (HR)-mediated DNA repair, which is thought to be critical for tumor suppression. The two BRCA proteins are linked by a third tumor suppressor, PALB2, in the HR pathway. While truncating mutations in these genes are generally pathogenic, interpretation of missense variants remains a challenge. To date, patient-derived missense variants that disrupt PALB2 binding have been identified in BRCA1 and BRCA2; however, there has not been sufficient evidence to prove their pathogenicity in humans, and no variants in PALB2 that disrupt either its BRCA1 or BRCA2 binding have been reported...
March 20, 2017: Oncogene
https://www.readbyqxmd.com/read/28319008/structure-of-yeast-osbp-related-protein-osh1-reveals-key-determinants-for-lipid-transport-and-protein-targeting-at-the-nucleus-vacuole-junction
#11
Mohammad Kawsar Manik, Huiseon Yang, Junsen Tong, Young Jun Im
Yeast Osh1 belongs to the oxysterol-binding protein (OSBP) family of proteins and contains multiple targeting modules optimized for lipid transport at the nucleus-vacuole junction (NVJ). The key determinants for NVJ targeting and the role of Osh1 at NVJs have remained elusive because of unknown lipid specificities. In this study, we determined the structures of the ankyrin repeat domain (ANK), and OSBP-related domain (ORD) of Osh1, in complex with Nvj1 and ergosterol, respectively. The Osh1 ANK forms a unique bi-lobed structure that recognizes a cytosolic helical segment of Nvj1...
March 10, 2017: Structure
https://www.readbyqxmd.com/read/28318885/genetic-association-of-the-functional-cdhr3-genotype-with-early-onset-adult-asthma-in-japanese-populations
#12
Jun Kanazawa, Hironori Masuko, Yohei Yatagai, Tohru Sakamoto, Hideyasu Yamada, Yoshiko Kaneko, Haruna Kitazawa, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Emiko Noguchi, Satoshi Konno, Masaharu Nishimura, Tomomitsu Hirota, Mayumi Tamari, Nobuyuki Hizawa
BACKGROUND: Recent studies have demonstrated that a coding SNP (rs6967330, Cys529→Tyr) in cadherin-related family member 3 (CDHR3), which was previously associated with wheezing illness and hospitalizations in infancy, could support efficient human rhinovirus C (RV-C) entry and replication. Here, we sought to examine the genetic contribution of this variant to the development of adult asthma. METHODS: We performed a candidate gene case-control association study of 2 independent Japanese populations (a total of 3366 adults)...
March 16, 2017: Allergology International: Official Journal of the Japanese Society of Allergology
https://www.readbyqxmd.com/read/28318522/prognostic-stratification-and-healthcare-approach-in-patients-with-multiple-pathologies
#13
M Bernabeu-Wittel, B Barón-Franco, D Nieto-Martín, L Moreno-Gaviño, N Ramírez-Duque, M Ollero-Baturone
Polypathological patients constitute a prevalent, fairly homogeneous population, which is characterised by high clinical complexity, substantial vulnerability and significant resource consumption, in addition to high mortality and the need for comprehensive, coordinated care. It is particularly important to establish a reliable prognosis in these patients. It is also extremely useful for professionals involved in the decision-making process for patients and their families in vital planning and their preferences, for strategic health planning in management fields, and for clinical research, by facilitating their incorporation into clinical trials and other intervention studies...
March 16, 2017: Revista Clínica Española
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#14
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28318499/loss-of-function-mutations-in-lgi4-a-secreted-ligand-involved-in-schwann-cell-myelination-are-responsible-for-arthrogryposis-multiplex-congenita
#15
Shifeng Xue, Jérôme Maluenda, Florent Marguet, Mohammad Shboul, Loïc Quevarec, Carine Bonnard, Alvin Yu Jin Ng, Sumanty Tohari, Thong Teck Tan, Mung Kei Kong, Kristin G Monaghan, Megan T Cho, Carly E Siskind, Jacinda B Sampson, Carolina Tesi Rocha, Fawaz Alkazaleh, Marie Gonzales, Luc Rigonnot, Sandra Whalen, Marta Gut, Ivo Gut, Martine Bucourt, Byrappa Venkatesh, Annie Laquerrière, Bruno Reversade, Judith Melki
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome sequencing in four unrelated multiplex families presenting with severe AMC, we identified biallelic loss-of-function mutations in LGI4 (leucine-rich glioma-inactivated 4). LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons...
March 8, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28318356/sexual-violence-against-adolescent-girls-labeling-it-to-avoid-normalization
#16
Giussy Barbara, Federica Collini, Cristina Cattaneo, Federica Facchin, Paolo Vercellini, Laura Chiappa, Alessandra Kustermann
Violence against women is a pervasive complex phenomenon that destroys women's feelings of love, trust, and self-esteem. In this commentary, we specifically focus on sexual violence against adolescent girls, whose impact is particularly harmful since it may lead to impaired mental health, social functioning, and neurodevelopment. Between 12% and 25% of adolescent girls throughout the world experience sexual violence, very often perpetrated by a family member or a friend. Moreover, for an alarming proportion of girls, the first sexual experience is coerced...
March 20, 2017: Journal of Women's Health
https://www.readbyqxmd.com/read/28318352/the-role-of-nlrp3-casp1-in-inflammasome-mediated-neuroinflammation-and-autophagy-dysfunction-in-manganese-induced-hippocampal-dependent-impairment-of-learning-and-memory-ability
#17
Diya Wang, Jianbin Zhang, Wenkai Jiang, Zipeng Cao, Fang Zhao, Tongjian Cai, Michael Aschner, Wenjing Luo
Central nervous system (CNS) inflammation and autophagy dysfunction are known to be involved in the pathology of neurodegenerative diseases. Manganese (Mn), a neurotoxic metal, has the potential to induce microglia-mediated neuroinflammation as well as autophagy dysfunction. NLRP3 (NLR family, pyrin domain containing 3)- CASP1 (caspase 1) inflammasome-mediated neuroinflammation in microglia has specific relevance to neurological diseases. However, the mechanism driving these phenomena remains poorly understood...
February 27, 2017: Autophagy
https://www.readbyqxmd.com/read/28318269/quartic-dispersion-strong-singularity-magnetic-instability-and-unique-thermoelectric-properties-in-two-dimensional-hexagonal-lattices-of-group-va-elements
#18
Haldun Sevincli
The critical points and the corresponding singularities in the density of states of crystals were first classified by Van Hove with respect to their dimensionality and energy-momentum dispersions. Here, different from saddle-point Van Hove singularities, the occurrence of a continuum of critical points, which give rise to strong singularities in two-dimensional elemental hexagonal lattices, is shown using a minimal tight-binding formalism. The model predicts quartic energy-momentum dispersions in spite of quadratic or linear ones, which is also the origin of the strong singularity...
March 20, 2017: Nano Letters
https://www.readbyqxmd.com/read/28318209/end-of-life-care-managing-common-symptoms
#19
Ross H Albert
Physicians should be proficient at managing symptoms as patients progress through the dying process. When possible, proactive regimens that prevent symptoms should be used, because it is generally easier to prevent than to treat an acute symptom. As swallowing function diminishes, medications are typically administered sublingually, transdermally, or via rectal suppository. Opiates are the medication of choice for the control of pain and dyspnea, which are common symptoms in the dying process. Delirium and agitation may be caused by reversible etiologies, which should be identified and treated when feasible...
March 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/28317498/school-achievement-iq-and-risk-of-alcohol-use-disorder-a-prospective-co-relative-analysis-in-a-swedish-national-cohort
#20
Kenneth S Kendler, Henrik Ohlsson, Jan Sundquist, Kristina Sundquist
OBJECTIVE: Most studies suggest that poor cognitive functioning in adolescence increases risk of alcohol use disorders (AUDs). We seek to clarify the causes of this association. METHOD: In Swedish individuals born from 1972 to 1990 in whom cognitive functioning was assessed by school achievement at age 16 years (males and females, N = 1,796,048) and by IQ at ages 18-20 (males, N = 554,644), we examined the hazard ratio (HR) for AUD ascertained from public registries...
March 2017: Journal of Studies on Alcohol and Drugs
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