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https://www.readbyqxmd.com/read/29024831/multiple-slc26a2-mutations-occurring-in-a-three-generational-family
#1
Ana Coral Barreda-Bonis, Jimena Barraza-García, Manuel Parrón, Ignacio Pastor, Karen E Heath, Isabel González-Casado
Multiple epiphyseal dysplasias (MED) are a group of heterogeneous skeletal dysplasias, which share a common phenotype: short stature, skeletal deformities, joint pain and early onset osteoarthritis. Mutations in COMP account for approximately half of autosomal dominant MED cases whilst SLC26A2 mutations account for ∼25% of the recessive cases in the Caucasian population. We present here an interesting family, which was thought to initially have an autosomal dominant skeletal dysplasia. Using a targeted sequencing skeletal dysplasia panel, the proband was found to be a compound heterozygote for two mutations in SLC26A2, one novel mutation, p...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29024770/biochemical-biological-and-molecular-characterization-of-an-l-amino-acid-oxidase-laao-purified-from-bothrops-pictus-peruvian-snake-venom
#2
Fanny Lazo, Dan E Vivas-Ruiz, Gustavo A Sandoval, Edith F Rodríguez, Edgar E G Kozlova, F Costal-Oliveira, Carlos Chávez-Olórtegui, Ruperto Severino, Armando Yarlequé, Eladio F Sanchez
An L-amino acid oxidase from Peruvian Bothrops pictus (Bpic-LAAO) snake venom was purified using a combination of size-exclusion and ion-exchange chromatography. Bpic-LAAO is an homodimeric glycosylated flavoprotein with molecular mass of ∼65 kDa under reducing conditions and ∼132 kDa in its native form as analyzed by SDS-PAGE and gel filtration chromatography, respectively. N-terminal amino acid sequencing showed highly conserved residues in a glutamine-rich motif related to binding substrate. The enzyme exhibited optimal activity towards L-Leu at pH 8...
October 9, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28991270/how-job-and-family-demands-impact-change-in-perceived-stress-a-dyadic-study
#3
Ewelina Smoktunowicz, Roman Cieślak
OBJECTIVES: The aim of this two-wave study has been to test the spillover and crossover of job and family demands on changes in perceived stress at work and in the family. Specifically, we proposed that demands from one domain (work or family) spilled over to another domain through interrrole conflict (work-family/family-work conflict) and context-specific self-efficacy. Additionally, we hypothesized that changes in perceived stress were impacted not only by a person's own demands through interrole conflict but also by the demands of one's significant other, in the process of crossover...
October 9, 2017: International Journal of Occupational Medicine and Environmental Health
https://www.readbyqxmd.com/read/28987451/smoking-prevention-in-children-and-adolescents-a-systematic-review-of-individualized-interventions
#4
REVIEW
Lindsay R Duncan, Erin S Pearson, Ralph Maddison
OBJECTIVE: This study systematically reviewed the literature to determine what type of cognitive-behavioral based interventions administered outside of formal school settings effectively prevent smoking initiation among children and adolescents. METHODS: Applying the PRISMA guidelines we searched MEDLINE, PsycINFO, CINHAL, Pub Med, SCOPUS, and Sport Discus. Article review, data extraction, and assessment of risk of bias were conducted by two independent reviewers...
September 21, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28976053/collaborative-care-using-six-thinking-hats-for-decision-making
#5
Jane Marie Cioffi
AIM: To apply six thinking hats technique for decision making in collaborative care. BACKGROUND: In collaborative partnerships, effective communications need to occur in patient, family, and health care professional meetings. The effectiveness of these meetings depends on the engagement of participants and the quality of the meeting process. The use of six thinking hats technique to engage all participants in effective dialogue is proposed. DESIGN: Discussion paper...
October 4, 2017: International Journal of Nursing Practice
https://www.readbyqxmd.com/read/28970070/characteristics-of-subgroups-in-the-adult-baby-diaper-lover-community
#6
Brian D Zamboni
BACKGROUND: There is a lack of research on adult baby/diaper lover (ABDL) behavior, particularly from community samples. Prior studies have not examined differences between the AB and DL subgroups in the ABDL community. AIM: To explore whether endorsements of AB role-play enjoyment and ratings of sexual enjoyment during ABDL activity were related to parenting and attachment variables, negative mood states, and reported problems with ABDL and to explore differences by relationship status and by sexual orientation...
September 29, 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/28964710/differential-dna-methylation-in-monozygotic-twins-discordant-for-female-sexual-functioning
#7
Andrea Burri, Myriam Leupin, Timothy Spector, Zoya Marinova
BACKGROUND: Research has repeatedly suggested genetic and environmental factors in the etiology underlying female sexual dysfunction (FSD). Because sexual functioning is a highly variable trait, epigenetics could provide a promising approach to tackle the origins of FSD and consequently offer a step-change in our understanding of these problems. AIM: To identify differentially methylated CpG positions for sexual functioning in a sample of monozygotic twin pairs discordant for sexual functioning...
September 27, 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/28944055/understanding-the-links-between-resilience-and-type-2-diabetes-self-management-a-qualitative-study-in-south-australia
#8
A L Wilson, D McNaughton, S B Meyer, P R Ward
BACKGROUND: Research conducted by Ward, Muller, Tsourtos, et al. (Soc Sci Med 72(7):1140-1148, 2011) has led to the development of the psycho-social interactive model of resilience, which reveals the interaction between individual resilience factors (i.e. coping, confidence and self esteem) and external resilience environments (i.e. employment, supportive family environments and health promoting policies) in facilitating the development of resilience. This present study explored the utility of this model of resilience for understanding how people self-manage type-2 diabetes...
2017: Archives of Public Health, Archives Belges de Santé Publique
https://www.readbyqxmd.com/read/28930303/mitigation-measures-of-electromagnetic-field-exposure-in-the-vicinity-of-high-frequency-welders
#9
Bartłomiej Zubrzak, Pawel Bieńkowski, Pawel Cała
BACKGROUND: Presented information about the welding process and equipment, focusing on the emission of electromagnetic field (EMF) with levels significant in terms of the labor safety regulations in force in Poland - the ordinances of the Minister of Family, Labour and Social Policy that came into force on June 27, 2016 and June 29, 2016 - emerged due to harmonization with EU directive 2013/35/EU of 26 June 2013 of the European Parliament and the Council. They presented methods of determination of the EMF distribution in the welding machine surroundings and analyzed the background knowledge from the available literature...
September 20, 2017: Medycyna Pracy
https://www.readbyqxmd.com/read/28925348/identification-with-terrorist-attack-victims-association-with-television-viewing-and-prior-life-threat
#10
Holly B Herberman Mash, Carol S Fullerton, K Nikki Benevides, Robert J Ursano
OBJECTIVE: A series of sniper attacks in the Washington, DC, area left 10 people dead and 3 wounded. We developed and tested a model that examined the unique and interdependent relationships of sniper-related television viewing, prior life-threatening events, and parental status to identification with attack victims. METHODS: Participants were 1238 residents of the DC area (aged 18-90 years, mean=41.7 years; 51% female; 68% white) who completed an online survey that assessed identification with sniper attack victims, amount of television viewing, and prior life-threatening events...
September 19, 2017: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/28910201/reentry-high-altitude-pulmonary-edema-in-the-himalayas
#11
Santosh Baniya, Christopher Holden, Buddha Basnyat
Baniya, Santosh, Christopher Holden, and Buddha Basnyat. Reentry high altitude pulmonary edema in the Himalayas. High Alt Med Biol. 16:000-000, 2017.-Reentry high altitude pulmonary edema (HAPE), a subset of HAPE, is a well recognized, life-threatening illness documented almost exclusively in the North and South Americans, who live at high altitude (>2500 m) and return to their homes after a brief sojourn of days to months at lower altitude. This phenomenon has not been reported in Sherpas or other people of Tibetan origin in Nepal or India...
September 14, 2017: High Altitude Medicine & Biology
https://www.readbyqxmd.com/read/28899435/optimizing-visits-to-the-site-of-death-for-bereaved-families-after-disasters-and-terrorist-events
#12
Pål Kristensen, Atle Dyregrov, Lars Weisæth, Marianne Straume, Kari Dyregrov, Trond Heir, Renate Grønvold Bugge
In recent years it has been common after disasters and terrorist events to offer bereaved families the opportunity to visit the place where their loved ones died. Many report that such visits are beneficial in processing their loss. Various factors, both cognitive (eg, counteracting disbelief) and existential or emotional (eg, achieving a sense of closeness to the deceased), are associated with the experienced benefit. Nonetheless, exacerbations of trauma and grief reactions (eg, re-enactment fantasies) are common, with some of the bereaved also reporting adverse reactions after the visit...
September 13, 2017: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/28868023/next-generation-sequencing-in-order-to-better-characterize-a-brca-variant-of-uncertain-significance
#13
Steven Sorscher, Shakti Ramkissoon
BRCA germline mutations are the most common predisposing factor in familial breast-ovarian cancer syndrome families. However, many screened patients are identified as harboring BRCA variants of uncertain significance (VUS), rather than carrying deleterious germline mutations [Calo et al.: Cancers 2010; 2:1644-1660]. While such VUSs are typically reclassified as benign polymorphisms, this may occur years after the VUS is first identified [Murray et al.: Genet Med 2011; 13; 998-1005]. Loss of heterozygosity (LOH) of BRCA is nearly always the gatekeeper event in inherited BRCA-related breast cancer and LOH of BRCA is rare in sporadic cancers [Osorio et al...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28858847/pheochromocytoma-diagnosis-and-treatment-review-of-the-literature
#14
F A Farrugia, G Martikos, P Tzanetis, A Charalampopoulos, E Misiakos, N Zavras, D Sotiropoulos
OBJECTIVE: We conducted an extensive review of the literature and tried to cite the most recent recommendations concerning the pheochromocytoma (PHEO). METHODS: Pub Med and Google Scholar databases were searched systematically for studies concerning pheochromocytomas (intra-adrenal paragangliomas) from 1980 until 2016. Bibliographies were searched to find additional articles. RESULTS: More than four times elevation of plasma fractionated metanephrines or elevated 24-h urinary fractionated metanephrines are keys to diagnosing pheochromocytoma...
July 1, 2017: Endocrine Regulations
https://www.readbyqxmd.com/read/28856687/a-novel-relationship-for-schizophrenia-bipolar-and-major-depressive-disorder-part-3-evidence-from-chromosome-3-high-density-association-screen
#15
Xing Chen, Feng Long, Bin Cai, Xiaohong Chen, Gang Chen
Familial clustering of schizophrenia(SCZ), bipolar disorder (BPD), and major depressive disorder (MDD) was systematically reported (Aukes et al, Genet Med 2012, 14, 338-341) and convergent evidence from genetics, symptomatology and psychopharmacology imply that there are intrinsic connections between these three major psychiatric disorders, for example, any two or even three of these disorders could co-exist in some families. A total of 60, 838 single-nucleotide polymorphisms (SNPs)on chromosome 3 were genotyped by Affymetrix Genome-Wide Human SNP array 6...
August 30, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28831950/post-traumatic-stress-disorder-symptoms-among-children-of-kathmandu-1-year-after-the-2015-earthquake-in-nepal
#16
Shneha Acharya, Dharma Nanda Bhatta, Sawitri Assannangkornchai
OBJECTIVE: The 2015 earthquake in Nepal affected the country in terms of economy, and by causing damage and stress reactions. This study aimed to estimate the prevalence and determine individual child- and family-level predictors of post-traumatic stress disorder (PTSD) symptoms. METHODS: A community-based cross-sectional study was carried out in Kathmandu district 15 months after the earthquake. Multistage cluster sampling was adopted to collect 800 earthquake-affected children aged 7-16 years and a face-to-face interview was conducted...
August 23, 2017: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/28818147/attention-deficit-hyperactivity-disorder-and-fatal-accidents-in-aviation-medicine
#17
Tanja Laukkala, Robert Bor, Bruce Budowle, Antti Sajantila, Pooshan Navathe, Markku Sainio, Alpo Vuorio
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder with symptoms of inattention and/or hyperactivity-impulsivity that interfere with functioning and/or development. ADHD occurs in about 2.5% of adults. ADHD can be an excluding medical condition among pilots due to the risk of attentional degradation and therefore impact on flight safety. Diagnosis of ADHD is complex, which complicates aeromedical assessment. This study highlights fatal accident cases among pilots with ADHD and discusses protocols to detect its presence to help to assess its importance to flight safety...
September 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28789927/commentary-on-inherited-dna-repair-gene-mutations-in-men-with-metastatic-prostate-cancer-pritchard-cc-mateo-j-walsh-mf-de-sarkar-n-abida-w-beltran-h-garofalo-a-gulati-r-carreira-s-eeles-r-elemento-o-rubin-ma-robinson-d-lonigro-r-hussain-m-chinnaiyan-a-vinson
#18
Byron H Lee
BACKGROUND: Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized prostate cancer who are unselected for family predisposition is insufficient to warrant routine testing, the frequency of such mutations in patients with metastatic prostate cancer has not been established. METHODS: We recruited 692 men with documented metastatic prostate cancer who were unselected for family history of cancer or age at diagnosis...
August 5, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28770699/risk-and-protective-factors-for-mental-health-and-community-cohesion-after-the-2013-calgary-flood
#19
Erin Hetherington, Sheila McDonald, Muci Wu, Suzanne Tough
OBJECTIVE: To examine mental health and community cohesion in women living in Calgary after a natural disaster considering previously collected mental health data. METHODS: Data from an ongoing longitudinal cohort, the All Our Families study, were used to examine mental health and community cohesion 5 months after a major flood in Calgary, Canada. Participants who had completed a baseline questionnaire before the flood were eligible for inclusion in this study (N=923)...
August 3, 2017: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/28742397/morbidity-in-the-mountainous-province-of-kyrgyzstan-results-from-a-population-based-cross-sectional-study
#20
Nurlan Brimkulov, Louis Louton, Salima Sydykova, Denis Vinnikov, Farida Imanalieva
Brimkulov, Nurlan, Louis Louton, Salima Sydykova, Denis Vinnikov, and Farida Imanalieva. Morbidity in the mountainous Province of Kyrgyzstan: results from a population-based cross-sectional study. High Alt Med Biol 00:000-000, 2017.-The aim of this study was to identify the main causes of using primary care facilities in the mountainous Naryn Province of Kyrgyzstan to set resources allocation priorities. We collected data on all admissions to family doctors in three Family Medical Centers (FMCs) in Naryn Province: (1) the city of Naryn (2200 meters above sea level [MASL]); (2) the town of At-Bashy (3200 MASL); and the town of Kochkor (1800 MASL) by using an original questionnaire during one full week (5 days) in spring 2016...
July 25, 2017: High Altitude Medicine & Biology
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