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https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#1
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28436373/fatco-syndrome-fibular-aplasia-tibial-campomelia-oligosyndactyly-with-talar-aplasia-a-case-study
#2
Khurshid Ahmad, Hilal Ahmad Malla, Sheikh Dawood
FATCO syndrome consists of fibular hemimelia, tibial campomelia and oligosyndactyly. FATCO syndrome can also be associated with other congenital anomalies; therefore, every case needs thorough evaluation so as to make the management of the patient easier. A few cases of this syndrome have been described in literature but only two cases have been reported in India so far. We present a 3-year-old male child born of a non-con-sanguinous marriage with FATCO syndrome and ipilateral talar aplasia without any other congenital anomalies...
January 26, 2017: Ortopedia, Traumatologia, Rehabilitacja
https://www.readbyqxmd.com/read/28435477/acrodermatitis-enteropathica-in-a-pair-of-twins
#3
Abdullatif Al Rashed, Mohja Al Shehri, Feroze Kaliyadan
BACKGROUND: Acrodermatitis enteropathica (AE) is a rare autosomal recessive metabolic disorder. First described by Brandt in 1936 and was named by Danbolt. A mutation in the SLC39A4 gene on chromosome 8 q24.3 is responsible for this disorder, which encodes zinc transporter Zip4. The diagnosis is made by the clinical presentation and histopathology and laboratory tests. In this case, we reported a twin presented with a typical rash and low zinc level. To our knowledge, very few cases reported as a twin with typical acrodermatitis enteropathica presentation...
December 31, 2016: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28433259/building-the-foundations-for-sustainable-development-a-case-for-global-investment-in-the-capabilities-of-adolescents
#4
Peter Sheehan, Kim Sweeny, Bruce Rasmussen, Annababette Wils, Howard S Friedman, Jacqueline Mahon, George C Patton, Susan M Sawyer, Eric Howard, John Symons, Karin Stenberg, Satvika Chalasani, Neelam Maharaj, Nicola Reavley, Hui Shi, Masha Fridman, Alison Welsh, Emeka Nsofor, Laura Laski
Investment in the capabilities of the world's 1·2 billion adolescents is vital to the UN's Sustainable Development Agenda. We examined investments in countries of low income, lower-middle income, and upper-middle income covering the majority of these adolescents globally to derive estimates of investment returns given existing knowledge. The costs and effects of the interventions were estimated by adapting existing models and by extending methods to create new modelling tools. Benefits were valued in terms of increased gross domestic product and averted social costs...
April 19, 2017: Lancet
https://www.readbyqxmd.com/read/28432559/the-marriage-wealth-premium-revisited-gender-disparities-and-within-individual-changes-in-personal-wealth-in-germany
#5
Philipp M Lersch
This study examines the association between marriage and economic wealth of women and men. Going beyond previous research that focused on household wealth, I examine personal wealth, which allows identifying gender disparities in the association between marriage and wealth. Using unique data from the German Socio-Economic Panel Study (2002, 2007, and 2012), I apply random-effects and fixed-effects regression models to test my expectations. I find that both women and men experience substantial marriage wealth premiums not only in household wealth but also in personal wealth...
April 21, 2017: Demography
https://www.readbyqxmd.com/read/28431365/attitudes-towards-people-with-epilepsy-in-moscow
#6
Alla Guekht, Anna Gersamiya, Igor Kaimovskiy, Maria Mizinova, Alexander Yakovlev, Alexander Shpak
PURPOSE: To assess the knowledge and attitudes in Moscow towards people with epilepsy (PWE). METHODS: Data were collected from 1167 adults, permanent residents of Moscow, who were interviewed. A 10-item questionnaire was used addressing three major domains: familiarity with epilepsy (2 questions), understanding of epilepsy (5 questions), and attitude towards the PWE (3 questions). Results were standardized to the Moscow population. RESULTS: The study population was generally well informed about epilepsy...
April 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28430082/a-community-based-survey-on-syrian-refugee-women-s-health-and-its-predictors-in-%C3%A5-anliurfa-turkey
#7
Zeynep Simsek, Nebiye Yentur Doni, Nese Gül Hilali, Gokhan Yildirimkaya
Reproductive characteristics, mental health symptoms, micronutrient deficiencies, and symptoms of sexually transmitted infections (STI) were determined among married Syrian refugee women aged 15-49 years who were living outside of camps in 2015, using probability sampling. Of the 458 participants, 51.3% married before the age of 18 years. Early-age marriages and number of desired children increased after the war. In multivariable analyses, education (adjusted odds ratio [aOR] = 1.2; 95% confidence interval [CI] = 1...
April 21, 2017: Women & Health
https://www.readbyqxmd.com/read/28429915/adolescent-women-as-a-key-target-population-for-community-nutrition-education-programs-in-indonesia
#8
Amy Savage, Judhiastuty Februhartanty, Anthony Worsley
BACKGROUND AND OBJECTIVES: Adolescence is a critical life-stage that sets the foundation for health in adulthood. Adolescent women are a unique population and should be targeted as such for nutrition promotion activities. Using Indonesia as a case study, this qualitative study aimed to identify existing nutrition promotion programs aimed at adolescent girls, how best to target this population and effective recommendations to inform nutrition education program design for this important group...
May 2017: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28426921/the-marriage-and-family-therapy-practice-research-network-mft-prn-creating-a-more-perfect-union-between-practice-and-research
#9
Lee N Johnson, Richard B Miller, Angela B Bradford, Shayne R Anderson
This article describes the Marriage and Family Therapy Practice Research Network (MFT-PRN). The MFT-PRN is designed to build a professional community based on practice-informed research and research-informed practice, increase the diversity of participants in MFT research, and unify researchers and clinicians. Clinics choose measures from a list that best represent their clinic needs. Clients' outcomes are assessed regularly, and therapists receive immediate graphical feedback on how clients are progressing or digressing...
April 20, 2017: Journal of Marital and Family Therapy
https://www.readbyqxmd.com/read/28424031/yellow-fever-from-angola-and-congo-a-storm-gathers
#10
Qanta A Ahmed, Ziad A Memish
In common with Zika, Chikungunya and Dengue, Yellow Fever (YF) is an arthropod-borne flavivirus. It is transmitted between humans and from monkeys by mosquitoes of the Aedes aegypti (its principal vector), haemogogus and albopictus varieties. Three cycles of transmission may occur: urban; sylvatic; and intermediate. Recently, sub-Saharan Africa has seen the resurgence of this neglected disease. The current YF outbreak in Angola began in December 2015 in the capital Luanda and by October 2016 there had been > 4300 suspected cases, with 376 deaths (case fatality rate = 8...
April 2017: Tropical Doctor
https://www.readbyqxmd.com/read/28423614/marriage-is-a-dependent-risk-factor-for-mortality-of-colon-adenocarcinoma-without-a-time-varying-effect
#11
Minling Liu, Lixian Li, Wei Yu, Jie Chen, Weibin Xiong, Shuang Chen, Li Yu
BACKGROUND: It has been well recognized that the effects of many prognostic factors could change during long-term follow-up. Although marriage has been proven to be a significant prognostic factor for the survival of colon cancer, whether the effect of marriage is constant with time remain unknown. This study analyzed the impact of marital status on the mortality of colon cancer patients with an extended Cox model that allowed for time-varying effects. METHODS: We identified 71,955 patients who underwent colectomy between 2004 and 2009 to treat colon adenocarcinoma from the Surveilance, Epidemiology and End Results Database...
March 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28419498/perceptions-and-experiences-of-marriage-preparation-among-u-s-muslims-multiple-voices-from-the-community
#12
Amal Killawi, Elham Fathi, Iman Dadras, Manijeh Daneshpour, Arij Elmi, Hamada Altalib
Although Muslims in the United States are a growing population, there is limited research on their relational patterns and how they prepare for marriage. We conducted in-depth interviews with 32 members of the Muslim community in Southeast Michigan including married individuals, divorced individuals, therapists, and imams (Muslim religious leaders) to explore their perceptions and experiences of marriage preparation. Our analysis revealed that marriage preparation varies but is less likely to involve a requirement of premarital counseling, with imams being the primary providers, not therapists...
April 17, 2017: Journal of Marital and Family Therapy
https://www.readbyqxmd.com/read/28418727/poor-sleep-is-associated-with-greater-marital-aggression-the-role-of-self-control
#13
Peggy S Keller, Eric A Haak, C Nathan DeWall, Claire Renzetti
BACKGROUND/OBJECTIVE: Although sleep problems are linked to relationship difficulties, the mechanisms involved have not been empirically demonstrated. The present study considers self-control as such a mechanism. PARTICIPANTS: Data were collected from 342 predominantly white, middle-class, married adults. METHOD: Participants completed online questionnaires about sleep, marital aggression, and self-control, and a virtual voodoo doll task. RESULTS AND CONCLUSIONS: Sleep problems were associated with higher levels of aggression on all measures, and lower self-control mediated these associations...
April 18, 2017: Behavioral Sleep Medicine
https://www.readbyqxmd.com/read/28418496/homozygosity-mapping-and-genetic-analysis-of-autosomal-recessive-retinal-dystrophies-in-144-consanguineous-pakistani-families
#14
Lin Li, Yabin Chen, Xiaodong Jiao, Chongfei Jin, Dan Jiang, Mukesh Tanwar, Zhiwei Ma, Li Huang, Xiaoyin Ma, Wenmin Sun, Jianjun Chen, Yan Ma, Oussama M'hamdi, Gowthaman Govindarajan, Patricia E Cabrera, Jiali Li, Nikhil Gupta, Muhammad Asif Naeem, Shaheen N Khan, Sheikh Riazuddin, Javed Akram, Radha Ayyagari, Paul A Sieving, S Amer Riazuddin, J Fielding Hejtmancik
Purpose: The Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD). This study was carried out to delineate the genetic architecture of arRD in the Pakistani population. Methods: The genetic origin of arRD in a total of 144 families selected only for having consanguineous marriages and multiple members affected with arRD was examined. Of these, causative mutations had been identified in 62 families while only the locus had been identified for an additional 15...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28416034/cohabitation-and-union-dissolution-in-central-uganda-differences-between-cohabitors-and-non-cohabitors
#15
Charles Lwanga, Ishmael Kalule-Sabiti, Natal Ayiga
The aim of this paper was to establish whether the differences in the risks of union dissolution between cohabitors and non-cohabitors in Uganda have converged over time using event history data. Data were collected in 2013 from 1200 women in central Uganda using retrospective methods. Of these, 839 provided information on three types of first union: women who married directly (without first cohabiting), those who married following cohabitation and those who were still cohabiting. The data were analysed using decrement lifetable analysis...
April 18, 2017: Journal of Biosocial Science
https://www.readbyqxmd.com/read/28415921/intimate-strangers-eritrean-male-asylum-seekers-perceptions-of-marriage-and-sexuality
#16
Lior Birger, Einat Peled
This study examined perceptions of marriage and sexuality among male asylum seekers from Eritrea. Semi-structured in-depth interviews were conducted with 14 men living in Israel. Their perceptions of marriage and sexuality were found to be influenced by their life as asylum seekers, and particularly by their encounter with a different culture, by their lack of legal status, and by the marked numerical imbalance between women and men within their community. Changes in their perceptions occurred after their arrival in Israel, and included greater relaxing of social codes and the transition from a relatively 'closed' sexual mindset to a more 'open' one...
April 18, 2017: Culture, Health & Sexuality
https://www.readbyqxmd.com/read/28415710/marital-status-and-survival-of-patients-with-oral-cavity-squamous-cell-carcinoma-a-population-based-study
#17
Xiao Shi, Ting-Ting Zhang, Wei-Ping Hu, Qing-Hai Ji
BACKGROUND: The relationship between marital status and oral cavity squamous cell carcinoma (OCSCC) survival has not been explored. The objective of our study was to evaluate the impact of marital status on OCSCC survival and investigate the potential mechanisms. RESULTS: Married patients had better 5-year cancer-specific survival (CSS) (66.7% vs 54.9%) and 5-year overall survival (OS) (56.0% vs 41.1%). In multivariate Cox regression models, unmarried patients also showed higher mortality risk for both CSS (Hazard Ratio [HR]: 1...
March 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28409704/attitudes-toward-homosexuality-in-adolescence-an-italian-study
#18
Alessandra Santona, Giacomo Tognasso
This study investigates Italian adolescents' attitudes toward gay men and lesbians and same-sex marriage, and their beliefs about the origins of homosexuality. The sample consists of 449 subjects (226 males), aged between 14 and 21 years. The principal instruments used are: the Attitudes Toward Lesbians and Gay men (ATLG), the Modern Homonegativity Scale (MHS) and the Attitudes Toward Same-Sex Marriage (ATSM). Results suggest that males show a more negative attitude than females toward homosexuals. Furthermore data reveal that respondents with a lack of personal direct contact with gay people have less positive attitudes toward homosexual people and same-sex marriage...
April 14, 2017: Journal of Homosexuality
https://www.readbyqxmd.com/read/28409167/changes-in-daily-life-of-iranian-patients-with-implantable-cardioverter-defibrillator-a-qualitative-study
#19
Nilofar Pasyar, Farkhondeh Sharif, Mahnaz Rakhshan, Mohammad Hossein Nikoo, Elham Navab
BACKGROUND: Although Implantable Cardioverter Defibrillator (ICD) saves the life of patients with life-threatening ventricular dysrhythmias, it causes various challenges in their life span. Considering the increase in the number of ICD users, more knowledge is required regarding changes in the patients' life after device implantation. The aim of this study was description of changes in daily life of patients after ICD implantation. METHODS: This qualitative study was conducted through content analysis method...
April 2017: International Journal of Community Based Nursing and Midwifery
https://www.readbyqxmd.com/read/28404614/cohort-profile-a-data-linkage-cohort-to-examine-health-service-profiles-of-people-with-intellectual-disability-in-new-south-wales-australia
#20
Simone Reppermund, Preeyaporn Srasuebkul, Theresa Heintze, Rebecca Reeve, Kimberlie Dean, Eric Emerson, David Coyne, Phillip Snoyman, Eileen Baldry, Leanne Dowse, Tracey Szanto, Grant Sara, Tony Florio, Julian N Trollor
PURPOSE: People with intellectual disability are a minority group who experience poorer physical and mental health than the general population and have difficulty accessing healthcare services. There is lack of knowledge about healthcare service needs and gaps experienced by people with intellectual disability. This study aims to interrogate a large linked administrative data set containing hospital admissions, presentations to emergency departments (ED) and mortality data to provide evidence to inform the development of improved health and mental health services for this population...
April 12, 2017: BMJ Open
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