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https://www.readbyqxmd.com/read/29156830/fbn3-gene-involved-in-pathogenesis-of-a-chinese-family-with-bardet-biedl-syndrome
#1
Yun Wang, Abir Garraoui, Liuzhi Zeng, Mingying Lai, Fen He, Huaizhou Wang, Chongyi Jiang, Yulan Chen, Lanlan Dai, Ning Fan, Huanming Yang, Jianguo Zhang, Xuyang Liu
Purpose: This study was designed to evaluate the molecular genetics of a Chinese family with Bardet-Biedl syndrome (BBS). Methods: All the family members underwent medical history evaluation, ophthalmologic and physical examinations. Whole exome sequencing was performed on two affected individuals and their parents. All variants were verified in all family members by PCR amplification and Sanger sequencing. Results: Patients in this family were diagnosed as Bardet-Biedl syndrome, with an inheritance pattern of autosomal recessive...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156222/cerebral-small-vessel-disease-in-middle-age-and-genetic-predisposition-to-late-onset-alzheimer-s-disease
#2
James D Stefaniak, Li Su, Elijah Mak, Nasim Sheikh Bahaei, Katie Wells, Karen Ritchie, Adam Waldman, Craig W Ritchie, John T O'Brien
INTRODUCTION: Cerebral small vessel disease (CSVD) is associated with late-onset Alzheimer's disease (LOAD) and might contribute to the relationship between apolipoprotein E ε4 (APOEε4) and LOAD, in older people. However, it is unclear whether CSVD begins in middle age in individuals genetically predisposed to LOAD. METHODS: We assessed the relationship between radiological markers of CSVD, white matter hyperintensities and microbleeds, and genetic predisposition to LOAD in a cross-sectional analysis of cognitively normal subjects aged 40-59 years recruited from the PREVENT Dementia study...
November 18, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29156212/history-and-purpose-of-postpartum-support-international
#3
Wendy Newhouse Davis, Christena Raines, Pec Indman, Birdie Gunyon Meyer, Ann Smith
Postpartum Support International provides training for professionals and supports families who experience perinatal mood and anxiety disorders. The purpose of this article is to describe Postpartum Support International, which was founded in 1987 to increase awareness among public and professional communities about the emotional difficulties women experience during and after pregnancy. We recommend strategies with which health care professionals can support families, reduce stigma, and offer resources for treatment and support...
November 17, 2017: Journal of Obstetric, Gynecologic, and Neonatal Nursing: JOGNN
https://www.readbyqxmd.com/read/29156196/familial-myelodysplastic-syndrome-acute-myeloid-leukemia
#4
REVIEW
Jane E Churpek
A growing number of inherited genetic loci that contribute to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) development in both children as well as adults are rapidly being identified. In recognition of the clinical impact of this emerging field, the World Health Organization, National Comprehensive Cancer Network, and European LeukemiaNet have all added consideration of inherited predisposition to MDS/AML classification and management. Study of these disorders is providing unique insight into the biology of both sporadic and familial MDS/AML...
December 2017: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/29155464/both-life-history-plasticity-and-local-adaptation-will-shape-range-wide-responses-to-climate-warming-in-the-tundra-plant-silene-acaulis
#5
Megan L Peterson, Daniel F Doak, William F Morris
Many predictions of how climate change will impact biodiversity have focused on range shifts using species-wide climate tolerances, an approach that ignores the demographic mechanisms that enable species to attain broad geographic distributions. But these mechanisms matter, as responses to climate change could fundamentally differ depending on the contributions of life history plasticity vs local adaptation to species-wide climate tolerances. In particular, if local adaptation to climate is strong, populations across a species' range - not only those at the trailing range edge - could decline sharply with global climate change...
November 20, 2017: Global Change Biology
https://www.readbyqxmd.com/read/29155082/association-of-gastric-intestinal-metaplasia-and-east-asian-ethnicity-with-the-risk-of-gastric-adenocarcinoma-in-a-u-s-population
#6
Alyssa Y Choi, Lisa L Strate, Matthew C Fix, Rodney A Schmidt, Alexander R Ende, Matthew M Yeh, John M Inadomi, Joo Ha Hwang
BACKGROUND AND AIMS: Although the incidence of gastric cancer is higher than esophageal cancer in the United States, no screening or surveillance guidelines exist. The aim of this study is to evaluate the association between gastric intestinal metaplasia and the risk of gastric cancer in a U.S. tertiary care system with a large immigrant population. METHODS: This is a retrospective case-control study with cases of biopsy-proven gastric cancer matched (by age and gender) to controls without gastric cancer who had undergone EGD...
November 16, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29154608/a-life-stress-emotional-awareness-and-expression-interview-for-primary-care-patients-with-medically-unexplained-symptoms-a-randomized-controlled-trial
#7
Maisa S Ziadni, Jennifer N Carty, Heather K Doherty, John H Porcerelli, Lisa J Rapport, Howard Schubiner, Mark A Lumley
OBJECTIVE: Lifetime trauma, relationship adversities, and emotional conflicts are elevated in primary care patients with medically unexplained symptoms (MUS), and these risk factors likely trigger or exacerbate symptoms. Helping patients disclose stressors, increase awareness and expression of inhibited emotions, and link emotions to physical symptoms may improve health. We developed an emotional awareness and expression interview that targets stressful life experiences and conflicts and then tested its effects on primary care patients with MUS...
November 20, 2017: Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association
https://www.readbyqxmd.com/read/29154461/patient-understanding-of-disease-and-the-use-and-outcome-of-implantable-cardioverter-defibrillators-in-hypertrophic-cardiomyopathy
#8
Shankar Baskar, John L Jefferies, Lisa Salberg, Philip R Khoury, David S Spar, Timothy K Knilans, Richard J Czosek
Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death (SCD) in young individuals. Implantable cardioverter defibrillators (ICD) are the primary therapy for sudden death prevention; however, are associated with both physical and psychological complications. We sought to determine factors associated with ICD understanding and patient satisfaction. This was a cross-sectional study, using patient/parent answered questionnaires distributed to patients enrolled in the Hypertrophic Cardiomyopathy Association...
November 20, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29154238/ctrc-gene-polymorphism-may-increase-pancreatic-cancer-risk-preliminary-study
#9
Stanisław Głuszek, Artur Kowalik, Dorota Kozieł, Iwona Wawrzycka, Martyna Głuszek-Osuch, Jarosław Matykiewicz
Pancreatic cancer is often fatal due to delayed diagnosis and treatment difficulties. OBJECTIVE: To analyze selected SPINK1, CTRC, CFTR, and PRSS1 gene mutations in cancer tissue and blood samples of patients with pancreatic tumors. MATERIALS AND METHOD: We enrolled 16 consecutive patients diagnosed with pancreatic tumors. We collected cancer tissue, normal pancreatic tissue, and blood samples for genetic tests. The control group consisted of 419 healthy individuals...
October 31, 2017: Polski Przeglad Chirurgiczny
https://www.readbyqxmd.com/read/29154142/child-trafficking-and-the-european-migration-crisis-the-role-of-forensic-practitioners
#10
Zuzana Obertová, Cristina Cattaneo
Trafficking in children is one of the worst forms of human rights violation and is categorised as a serious crime. Children at high risk of becoming victims of trafficking are runaways, children with a history of abuse, and migrant children. Internationally, cases of child trafficking are increasing the most in Europe, which is likely the result of the current migration crisis. In crises, preventing and combating human trafficking needs to be prioritized, considering that the aims of humanitarian action include saving lives, easing suffering and preserving human dignity...
November 4, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29153750/family-history-of-diabetes-is-associated-with-enhanced-adipose-lipolysis-evidence-for-the-implication-of-epigenetic-factors
#11
I Dahlman, M Ryden, P Arner
AIMS: Type 2 diabetes is associated with insulin resistance, adipose hypertrophy and increased lipolysis. The heritability of these traits has been determined by associating them with a family history of diabetes. METHODS: Abdominal subcutaneous fat biopsies were obtained from 581 subjects in a cross-sectional study. Fat cells were isolated, and the difference between measured and expected fat-cell volume was used to determine adipose morphology (degree of hypertrophy or hyperplasia)...
November 11, 2017: Diabetes & Metabolism
https://www.readbyqxmd.com/read/29153663/prognostic-model-for-chronic-hypertension-in-women-with-a-history-of-hypertensive-pregnancy-disorders-at-term
#12
V S Visser, W Hermes, J Twisk, A Franx, M G van Pampus, C Koopmans, B W J Mol, C J M de Groot
INTRODUCTION: The association between hypertensive pregnancy disorders and cardiovascular disease later in life is well described. In this study we aim to develop a prognostic model from patients characteristics known before, early in, during and after pregnancy to identify women at increased risk of cardiovascular disease e.g. chronic hypertension years after pregnancy complicated by hypertension at term. METHODS: We included women with a history of singleton pregnancy complicated by hypertension at term...
October 2017: Pregnancy Hypertension
https://www.readbyqxmd.com/read/29153459/-intrafamilial-disruptive-behaviour-disorders-in-children-and-adolescents-present-data-and-treatment-prospects
#13
E Bousquet, N Franc, C Ha, D Purper-Ouakil
Child-to-parent violence is a form of family violence that is still a well-kept secret. Abused parents can be victims of different types of abuse. Children can use both physical and psychological violence such as financial threats to take control of the home. In this situation, parents often no longer dare to contradict their children by fear of triggering uncontrollable violence. Although the phenomenon recently drew the attention of the media, there is still little knowledge about its prevalence and clinical characteristics...
November 16, 2017: L'Encéphale
https://www.readbyqxmd.com/read/29153402/phylogenetics-and-phylogenomics-of-rust-fungi
#14
M Catherine Aime, Alistair R McTaggart, Stephen J Mondo, Sébastien Duplessis
Rust fungi (Pucciniales) are the most speciose and the most complex group of plant pathogens. Historically, rust taxonomy was largely influenced by host and phenotypic characters, which are potentially plastic. Molecular systematic studies suggest that the extant diversity of this group was largely shaped by host jumps and subsequent shifts. However, it has been challenging to reconstruct the evolutionary history for the order, especially at deeper (family-level) nodes. Phylogenomics offer a potentially powerful tool to reconstruct the Pucciniales tree of life, although researchers working at this vanguard still face unprecedented challenges working with nonculturable organisms that possess some of the largest and most repetitive genomes now known in kingdom fungi...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/29153294/impact-of-family-history-of-substance-abuse-on-admission-opioid-dose-depressive-symptoms-and-pain-catastrophizing-in-patients-with-chronic-pain
#15
Elizabeth L Pestka, Julia Craner, Michele Evans, Virginia Nash, Njoki Kimondo, Deborah Pestka, Larissa Loukianova, Jeannie Sperry
The objectives of this study were to examine association between a family history of substance abuse and admission morphine equivalent dose, depression and pain catastrophizing screening scores, as well as reported personal history of substance use. The retrospective research was completed in an interdisciplinary three-week pain rehabilitation center. The subject cohort included admissions from January through December 2014 with 351 datasets for family history of substance abuse and oral morphine equivalency and 341 for depression, pain catastrophizing and use of substances...
November 15, 2017: Pain Management Nursing: Official Journal of the American Society of Pain Management Nurses
https://www.readbyqxmd.com/read/29153096/correlations-between-microsatellite-instability-ercc1-xrcc1-polymorphism-and-clinical-characteristics-and-folfox-adjuvant-chemotherapy-effect-of-colorectal-cancer-patients
#16
Liping Zhang, Jiangman Zhao, Bin Yu, Xinjiang Song, Guogang Sun, Lijiang Han, Lu Wang, Shu Dong
Patients with MSI colorectal tumor have good prognosis and cannot benefit from 5-fluorouracil (5-Fu)-based chemotherapy reported by previous studies. While, single nucleotide polymorphisms (SNP) of ERCC1 and XRCC1 have be proved to influence clinical outcome of colorectal cancer patients treated with oxaliplatin-based chemotherapy. We aim to study the correlation between molecular status and clinical- pathological features, and their effect on CRC patients' clinical outcome treated with mFOLFOX6 adjuvant chemotherapy...
December 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29153010/family-experiences-and-sexual-victimization-histories-a-comparative-analysis-between-youth-sexual-and-nonsexual-offenders
#17
Jamie Yoder, Rebecca Dillard, George S Leibowitz
Youth who commit sexual offenses often have sexual victimization histories that occur in the family context. These victimization experiences can be exacerbated by other risks present in the family environment. This research study uses MANOVAs to explore how family environments including substance use, mental health, physical and emotional victimization experiences, attachment, and parenting styles differentiate subgroups of youth offenders including youth sexual offenders with ( n = 179) and without ( n = 176) sexual victimization histories, and nonsexual offenders without sexual victimization histories ( n = 150)...
November 1, 2017: International Journal of Offender Therapy and Comparative Criminology
https://www.readbyqxmd.com/read/29152711/the-burst-phase-folding-intermediate-of-ribonuclease-h-changes-conformation-over-evolutionary-history
#18
Shion A Lim, Susan Marqusee
The amino acid sequence encodes the energy landscape of a protein. Therefore, we expect evolutionary mutations to change features of the protein energy landscape, including the conformations adopted by a polypeptide as it folds to its native state. Ribonucleases H (RNase H) from Escherichia coli and Thermus thermophilus both fold via a partially folded intermediate in which the core region of the protein (helices A-D and strands 4-5) is structured. Strand 1, however, uniquely contributes to the T. thermophilus RNase H folding intermediate (Icore+1 ), but not the E...
November 20, 2017: Biopolymers
https://www.readbyqxmd.com/read/29151306/evaluation-of-risk-factors-for-the-recurrence-of-colorectal-polyps-and-colorectal-cancer
#19
Öztürk Ateş, Bülent Sivri, Saadettin Kılıçkap
Background/aim: Colorectal adenomatous polyps are precursors of colorectal cancer (CRC), which can be prevented with surveillance colonoscopy. This study aimed to assess risk factors for the recurrence of colorectal polyps and CRC following polypectomy. Materials and methods: In this single-center trial, a total of 510 patients who applied to the endoscopy unit of Hacettepe University Hospital for various reasons and who were diagnosed with at least one colorectal adenomatous polyp between 2000 and 2010 were retrospectively analyzed...
November 13, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29151195/risk-factors-in-preschool-children-for-predicting-asthma-during-the-preschool-age-and-the-early-school-age-a-systematic-review-and-meta-analysis
#20
REVIEW
Yixia Bao, Zhimin Chen, Enmei Liu, Li Xiang, Deyu Zhao, Jianguo Hong
PURPOSE OF REVIEW: The aim of this study was to identify risk factors of asthma among children < 6 years old (preschool age) for predicting asthma during the preschool age and early school age (≤ 10 years of age). METHOD OF THE STUDY: MEDLINE, Cochrane, EMBASE, and Google Scholar databases were searched until June 30, 2017. Prospective or retrospective cohort and case-control studies were included. Studies had to have evaluated risk factors or a predictive model for developing asthma in children ≤ 6 years of age or persistent asthma in early school age...
November 18, 2017: Current Allergy and Asthma Reports
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