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https://www.readbyqxmd.com/read/28944857/a-novel-fbn1-mutation-causes-autosomal-dominant-marfan-syndrome
#1
Ying Xiao, Xiaoqi Liu, Xiaoxin Guo, Liping Liu, Linxin Jiang, Qi Wang, Bo Gong
Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals including two patients with MFS were recruited. The family members underwent complete physical, cardiovascular and ophthalmologic examinations. Genomic DNA samples were collected from the family along with 383 unrelated healthy subjects...
September 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28944553/outcomes-for-bipolar-patients-assessed-in-the-french-expert-center-network-a-2-year-follow-up-observational-study-fondamental-advanced-centers-of-expertise-for-bipolar-disorder-face-bd
#2
Chantal Henry, Ophelia Godin, Philippe Courtet, Jean-Michel Azorin, Sébastien Gard, Frank Bellivier, Mircea Polosan, Jean-Pierre Kahn, Paul Roux, Valerie Aubin, Dominique Costagliola, Marion Leboyer, Bruno Etain
OBJECTIVE: A new health care system for patients with bipolar disorders was established in France under the auspices of Fondation FondaMental, based on thorough clinical assessment of patients and on close collaborations between expert centers and referring practitioners. We report the results of outcomes after 2 years of observational follow-up of adult patients assessed within the network. METHOD: A total of 984 patients were included in the study. We compared several parameters (e...
September 12, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28944422/role-of-glutathione-s-transferase-family-genes-in-male-infertility
#3
L I Kolesnikova, N A Kurashova, T A Bairova, M I Dolgikh, O A Ershova, B G Dashiev, L I Korytov, N V Koroleva
Polymorphisms of xenobiotic detoxification genes GSTT1 and GSTM1 and activity of glutathione system enzymes were studied in men with infertility. The frequency of deletion variant of GSTT1 gene in men with infertility was by 2 times higher than in fertile men. Deletion variant of GSTM1 gene was 1.4-fold more frequent in infertile men than in fertile men. Complete deletion of two genes was found in 19% men with infertility and only in 6% fertile men. The balance of activity of glutathione system enzymes essential for the effective detoxification of exogenous xenobiotics and toxic endogenous metabolites was impaired in infertile carriers of deletion variants of genes...
September 25, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28944260/post-treatment-survivorship-care-needs-of-spanish-speaking-latinas-with-breast-cancer
#4
Anna María Nápoles, Carmen Ortiz, Jasmine Santoyo-Olsson, Anita L Stewart, Howard E Lee, Ysabel Duron, Niharika Dixit, Judith Luce, Diana J Flores
BACKGROUND: A comprehensive assessment of Spanish-speaking breast cancer survivors' (SSBCS) survivorship needs is lacking. OBJECTIVE: Assess SSBCS' post-treatment symptom management, psychosocial, and informational needs. METHODS: 118 telephone surveys and 25 in-person semi-structured interviews with SSBCS, and semi-structured interviews with 5 support providers and 4 physicians who serve SSBCS from 5 Northern California counties. RESULTS: Surveys identified the most bothersome (bothered by it in the past month "somewhat/quite a bit/a lot") physical symptoms as: joint pain, fatigue, hot flashes, numbness in hands/feet, and vaginal dryness...
2017: Journal of Community and Supportive Oncology
https://www.readbyqxmd.com/read/28944223/enrollment-childbearing-motivations-and-intentions-of-couples-in-the-creighton-model-effectiveness-intentions-and-behaviors-assessment-ceiba-study
#5
Joseph B Stanford, Christina A Porucznik
CONTEXT: The Creighton Model FertilityCare(TM) System (CrM) is a standardized approach for educating women about the biomarkers of their fertility. Couples can use this information for timing intercourse during "fertile" or "infertile" days in order to try to conceive or to avoid pregnancy. OBJECTIVES: The study of Creighton Model Effectiveness, Intentions, and Behaviors Assessment (CEIBA) was conducted to assess fertility motivations, intentions, fertility-related sexual behaviors, and their impact on effectiveness to avoid and to conceive among new users of the CrM...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28944078/a-pore-forming-protein-implements-vlr-activated-complement-cytotoxicity-in-lamprey
#6
Fenfang Wu, Bo Feng, Yong Ren, Di Wu, Yue Chen, Shengfeng Huang, Shangwu Chen, Anlong Xu
Lamprey is a basal vertebrate with a unique adaptive immune system, which uses variable lymphocyte receptors (VLRs) for antigen recognition. Our previous study has shown that lamprey possessed a distinctive complement pathway activated by VLR. In this study, we identified a natterin family member-lamprey pore-forming protein (LPFP) with a jacalin-like lectin domain and an aerolysin-like pore-forming domain. LPFP had a high affinity with mannan and could form oligomer in the presence of mannan. LPFP could deposit on the surface of target cells, form pore-like complex resembling a wheel with hub and spokes, and mediate powerful cytotoxicity on target cells...
2017: Cell Discovery
https://www.readbyqxmd.com/read/28944044/shifting-paradigm-of-maternal-and-perinatal-death-review-system-in-bangladesh-a-real-time-approach-to-address-sustainable-developmental-goal-3-by-2030
#7
REVIEW
Animesh Biswas
Recently, Bangladesh has made remarkable progress in reducing maternal and neonatal morality, even though the millennium developmental goal to reduce maternal and neonatal mortality was not achieved. Sustainable Developmental Goal (SDG) 3 has already been set for a new target to reduce maternal and neonatal deaths by 2030. The country takes this timely initiative to introduce a maternal and perinatal death review system. This review will discuss the shifting paradigm of the maternal and perinatal death review system in Bangladesh and its challenges in reaching the SDG on time...
2017: F1000Research
https://www.readbyqxmd.com/read/28942731/factors-influencing-trainee-doctor-emigration-in-a-high-income-country-a-mixed-methods-study
#8
Nicholas Clarke, Sophie Crowe, Niamh Humphries, Ronan Conroy, Simon O'Hare, Paul Kavanagh, Ruairi Brugha
BACKGROUND: The Global Code of Practice on the International Recruitment of Health Personnel focuses particularly on migration of doctors from low- and middle-income countries. Less is understood about migration from high-income countries. Recession has impacted several European countries in recent years, and in some cases emigration has reached unprecedented levels. This study measures and explores the predictors of trainee doctor emigration from Ireland. METHODS: Using a partially mixed sequential dominant (quantitative) study design, a nationally representative sample of 893 trainee doctors was invited to complete an online survey...
September 25, 2017: Human Resources for Health
https://www.readbyqxmd.com/read/28942693/training-to-reduce-behavioral-health-disparities-how-do-we-optimally-prepare-family-medicine-residents-for-practice-in-rural-communities
#9
Jennifer S Robohm
Family physicians are a critical part of the healthcare system in rural areas, but little is known about the training they need to more effectively address behavioral health disparities. Practicing family physicians in Montana were surveyed about the behavioral health needs of their patients, the behavioral resources at their disposal, their prioritization of a number of behavioral skills and interventions in the training of family physicians, factors that limit their own use of behavioral skills, and the extent of their behavioral science training...
January 1, 2017: International Journal of Psychiatry in Medicine
https://www.readbyqxmd.com/read/28942469/early-versus-late-diagnosis-of-complement-factor-i-deficiency-clinical-consequences-illustrated-in-two-families-with-novel-homozygous-cfi-mutations
#10
Clara Franco-Jarava, Elena Álvarez de la Campa, Xavier Solanich, Francisco Morandeira-Rego, Virgínia Mas-Bosch, Marina García-Prat, Xavier de la Cruz, Andrea Martín-Nalda, Pere Soler-Palacín, Manuel Hernández-González, Roger Colobran
The complement system is an important effector arm of innate immunity and plays a crucial role in the defense against common pathogens. But effective defense and maintenance of homeostasis requires a careful balance between complement activation and regulation. Factor I (FI) is one of the most important regulators of the complement system. Complete FI deficiency is a rare autosomal recessive disorder typically resulting in severe, recurrent infection by encapsulated bacteria. In the present study, we describe two patients from unrelated families with complete FI deficiency diagnosed at very different ages: Patient 1 is a 60-year-old man who had experienced several severe infections (pneumonia, meningitis, sepsis) since childhood, one of which caused significant and permanent neurologic sequelae...
September 23, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28942442/evolutionary-relationships-among-boulengerella-species-ctenoluciidae-characiformes-genomic-organization-of-repetitive-dnas-and-highly-conserved-karyotypes
#11
José F de Souza E Sousa, Patrik F Viana, Luiz A C Bertollo, Marcelo B Cioffi, Eliana Feldberg
Ctenoluciidae is a Neotropical freshwater fish family whose representatives are known as bicudas. The genus Boulengerella contains 5 species, and 4 of them (B. cuvieri, B. lateristriga, B. lucius, and B. maculata) were cytogenetically analyzed in the present study by conventional and molecular procedures. All 4 species have a very similar karyotype, with 2n = 36 chromosomes (14 metacentrics + 16 submetacentrics + 6 subtelocentrics; FN = 72). However, the heterochromatin distribution pattern is species-specific...
September 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28942441/the-clinical-characteristics-and-prognostic-analysis-of-status-epilepticus-in-northeast-china
#12
Lichao Sun, Chuntao Han, Weihong Lin
OBJECTIVE: Status epilepticus (SE) is a neurological emergency that may cause severe neurological deficiency and even death. The aim of this study was to analyze the clinical characteristics and prognosis of SE in northeast China. Additionally, the etiology and classification are discussed. MATERIALS AND METHODS: We retrospectively collected the clinical profiles of patients diagnosed with SE in the Epilepsy Center of Jilin University between January 2011 and May 2015...
September 22, 2017: European Neurology
https://www.readbyqxmd.com/read/28942216/an-ethnography-on-perceptions-of-pain-in-dutch-natural-childbirth
#13
Katie Logsdon, Carolyn Smith-Morris
OBJECTIVE: this study offers insight into how women perceive childbirth pain and how they make decisions about whether to use an epidural during childbirth in the low technology context of the Netherlands maternity care system. DESIGN: ethnographic research consisting of participant observation at births and prenatal and postnatal appointments; semi-structured interviews with a sample of recently post-partum women; coding and triangulation of data to determine key themes in the interviews...
September 11, 2017: Midwifery
https://www.readbyqxmd.com/read/28942190/assessing-eco-efficiency-and-the-determinants-of-horticultural-family-farming-in-southeast-spain
#14
Ángeles Godoy-Durán, Emilio Galdeano-Gómez, Juan C Pérez-Mesa, Laura Piedra-Muñoz
Eco-efficiency is currently receiving ever increasing interest as an indicator of sustainability, as it links environmental and economic performances in productive activities. In agriculture these indicators and their determinants prove relevant due to the close ties in this activity between the use of often limited natural resources and the provision of basic goods for society. The present paper analyzes eco-efficiency at micro-level, focusing on small-scale family farms as the principal decision-making units (DMUs) of horticulture in southeast Spain, which represents over 30% of fresh vegetables produced in the country...
September 20, 2017: Journal of Environmental Management
https://www.readbyqxmd.com/read/28942130/biosynthesis-and-structure-activity-relationships-of-the-lipid-a-family-of-glycolipids
#15
REVIEW
Xirui Xiao, Karthik Sankaranarayanan, Chaitan Khosla
Lipopolysaccharide (LPS), a glycolipid found in the outer membrane of Gram-negative bacteria, is a potent elicitor of innate immune responses in mammals. A typical LPS molecule is composed of three different structural domains: a polysaccharide called the O-antigen, a core oligosaccharide, and Lipid A. Lipid A is the amphipathic glycolipid moiety of LPS. It stimulates the immune system by tightly binding to Toll-like receptor 4. More recently, Lipid A has also been shown to activate intracellular caspase-4 and caspase-5...
September 19, 2017: Current Opinion in Chemical Biology
https://www.readbyqxmd.com/read/28942089/biochemical-basis-for-distinct-roles-of-the-heterochromatin-proteins-swi6-and-chp2
#16
R Stefan Isaac, Serena Sanulli, Ryan Tibble, Michael Hornsby, Matthew Ravalin, Charles S Craik, John D Gross, Geeta J Narlikar
Heterochromatin protein 1 (HP1) family proteins are conserved chromatin binding proteins involved in gene silencing, chromosome packaging, and chromosome segregation. These proteins recognize histone H3 lysine 9 methylated tails via their chromodomain (CD) and recruit additional ligand proteins with diverse activities through their dimerization domain, the chromoshadow domain (CSD). Species that have HP1 proteins possess multiple paralogs that perform non-overlapping roles in vivo. How different HP1 proteins, which are highly conserved, perform different functions is not well understood...
September 20, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28942055/delivering-social-work-services-in-collaboration-with-the-legal-representation-for-individual-clients-an-effective-ethical-and-economical-approach-to-supporting-families-in-child-abuse-and-neglect-legal-proceedings
#17
Robbin Pott
This article discusses the need to improve the quality of helping relationships between families and social workers in the child protection system and the growing body of evidence that teams of social workers and lawyers are effective at improving outcomes in child protection legal proceedings. The author presents an alternative structure of delivering social work services within the child protection systems once a court gets involved with a family, proposing that social workers should focus on individual clients in collaboration with their legal representation, rather than the traditional model of a governmental agency social worker serving the family as a unit as it also determines placement of the children...
September 20, 2017: Child Abuse & Neglect
https://www.readbyqxmd.com/read/28941983/child-strengths-and-placement-stability-among-racial-ethnic-minority-youth-in-the-child-welfare-system
#18
Faith Summersett-Ringgold, Neil Jordan, Cassandra Kisiel, Rachel M Sax, Gary McClelland
While all children deserve a stable living environment, national data illustrate that many states struggle to achieve placement stability for youth in the child welfare system as a significant number of children in foster care continue to experience multiple placements while in state custody. Prior research has not considered the impact of youth protective factors or strengths on the frequency of placement changes that youth experience while in the child welfare system. This study examined the association between strengths measured at multiple levels (i...
September 20, 2017: Child Abuse & Neglect
https://www.readbyqxmd.com/read/28941978/barriers-to-accessing-abortion-services-and-perspectives-on-using-mifepristone-and-misoprostol-at-home-in-great-britain
#19
Abigail R A Aiken, Katherine A Guthrie, Marlies Schellekens, James Trussell, Rebecca Gomperts
OBJECTIVE: To examine reasons for seeking abortion services outside the formal healthcare system in Great Britain, where abortion is legally available. STUDY DESIGN: We conducted a mixed-methods study among women resident in England, Scotland, and Wales who requested at-home medication abortion through online telemedicine initiative Women on Web (WoW) between November 22nd 2016 and March 22nd 2017. We examined the demographics and circumstances of all women requesting early medication abortion and conducted a content analysis of a sample of their anonymized emails to the service to explore their reasons for seeking help...
September 18, 2017: Contraception
https://www.readbyqxmd.com/read/28941941/novel-toxins-from-type-ii-toxin-antitoxin-systems-with-acetyltransferase-activity
#20
REVIEW
Dukas Jurėnas, Abel Garcia-Pino, Laurence Van Melderen
Type II toxin-antitoxin (TA) systems are widespread in bacterial and archeal genomes. These modules are very dynamic and participate in bacterial genome evolution through horizontal gene transfer. TA systems are commonly composed of a labile antitoxin and a stable toxin. Toxins appear to preferentially inhibit the protein synthesis process. Toxins use a variety of molecular mechanisms and target nearly every step of translation to achieve their inhibitory function. This review focuses on a recently identified TA family that includes acetyltransferase toxins...
September 20, 2017: Plasmid
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