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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/28435477/acrodermatitis-enteropathica-in-a-pair-of-twins
#2
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/28426921/the-marriage-and-family-therapy-practice-research-network-mft-prn-creating-a-more-perfect-union-between-practice-and-research
#3
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/28419498/perceptions-and-experiences-of-marriage-preparation-among-u-s-muslims-multiple-voices-from-the-community
#4
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/28418496/homozygosity-mapping-and-genetic-analysis-of-autosomal-recessive-retinal-dystrophies-in-144-consanguineous-pakistani-families
#5
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/28409167/changes-in-daily-life-of-iranian-patients-with-implantable-cardioverter-defibrillator-a-qualitative-study
#6
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/28404539/a-national-registry-of-thalassemia-in-turkey-demographic-and-disease-characteristics-of-patients-achievements-and-challenges-in-prevention
#7
Yeşim Aydınok, Yeşim Oymak, Berna Atabay, Gönül Aydoğan, Akif Yeşilipek, Selma Ünal, Yurdanur Kılınç, Banu Oflaz, Mehmet Akın, Canan Vergin, Melike Sezgin Evim, Ümran Çalışkan, Şule Ünal, Ali Bay, Elif Kazancı, Dilber Talia İleri, Didem Atay, Türkan Patıroğlu, Selda Kahraman, Murat Söker, Mediha Akcan, Aydan Akdeniz, Mustafa Büyükavcı, Güçhan Alanoğlu, Özcan Bör, Nur Soyer, Nihal Özdemir Karadaş, Ezgi Uysalol, Meral Türker, Arzu Akçay, Süheyla Ocak, Adalet Meral Güneş, Hüseyin Tokgöz, Zümrüt Uysal, Naci Tiftik, Zeynep Karakaş
Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate demographic and disease characteristics of patients, and assessed the efficacy of hemoglobinopathy control program (HCP) over 10 years in Turkey. A total of 2046 patients from 27 Thalassemia Centers were registered in which 1988 were eligible for analysis. This cohort mainly comprised patients with β-thalassemia major (n=1658, 83.4%) and intermedia (n=215, 10.8%). The majority of patients were accumulated into the costal areas of Turkey...
April 13, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/28402722/prevalence-of-diabetic-retinopathy-in-urban-slums-the-aditya-jyot-diabetic-retinopathy-in-urban-mumbai-slums-study-report-2
#8
Mohan Sunita, Arvind Kumar Singh, Ashwini Rogye, Manish Sonawane, Ravina Gaonkar, Radhika Srinivasan, Sundaram Natarajan, Fred C J Stevens, A J J A Scherpbier, Govindasamy Kumaramanickavel, Catherine McCarty
OBJECTIVES: The aims of the study were to estimate the prevalence of diabetic retinopathy (DR) and enumerate history-based risk factors in the urban slums of Western India. METHODS: The population-based study was conducted in seven wards of Mumbai urban slums, where we screened 6569 subjects of ≥ 40 years age, with a response rate of 98.4%, for type 2 diabetes mellitus (T2DM) based on American Diabetes Association criteria. All subjects with T2DM underwent dilated 30° seven-field stereo-fundus-photography for DR severity grading based on modified Airlie House classification...
April 12, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28401577/a-brief-report-on-the-ethical-and-legal-guides-for-technology-use-in-marriage-and-family-therapy
#9
Michael Pennington, Rikki Patton, Amber Ray, Heather Katafiasz
Marriage and family therapists (MFTs) use ethical codes and state licensure laws/rules as guidelines for best clinical practice. It is important that professional codes reflect the potential exponential use of technology in therapy. However, current standards regarding technology use lack clarity. To explore this gap, a summative content analysis was conducted on state licensure laws/rules and professional ethical codes to find themes and subthemes among the many aspects of therapy in which technology can be utilized...
April 12, 2017: Journal of Marital and Family Therapy
https://www.readbyqxmd.com/read/28400349/the-level-of-using-family-planning-methods-and-factors-that-influence-the-preference-of-methods-in-the-konya-meram-area
#10
Zeynep Öztürk İnal, Hasan Ali İnal, Hasan Küçükkendirci, Ayla Sargın Oruç
OBJECTIVE: In this study, we aimed to determine the level of contraceptive method use and the factors that influence the preference of method among women of reproductive age that live in Meram, the central district of Konya. MATERIAL AND METHODS: Parameters such as the age, duration of marriage, the number of pregnancies and births, socioeconomic status, education level, and preferred contraceptive method of the women that applied to the family planning outpatient clinic of our hospital over a five-year period between January 1, 2010 and December 31, 2015 were recorded and evaluated...
February 7, 2017: Journal of the Turkish German Gynecological Association
https://www.readbyqxmd.com/read/28398172/men-s-perceptions-of-child-bearing-and-fertility-control-in-pakistan-insights-from-a-peer-project
#11
Eleanor Brown, Xaher Gul, Aamir Abbas, Asim Nasar, Asma Balal
Notions of masculinity, which promote the role of men as providers and decision-makers, alongside men's opposition to modern forms of contraception, have long been assumed to be a barrier to women's use of contraception in Pakistan. There has been little in-depth exploration of varieties of masculinity and how these may influence men's views of child-bearing or fertility preferences. This study used Participatory Ethnographic and Evaluation Research to explore married men's (aged 18 to 45 years) perceptions of marriage, child-bearing and fertility control...
April 11, 2017: Culture, Health & Sexuality
https://www.readbyqxmd.com/read/28395249/opioid-users-with-comorbid-hepatitis-c-spent-more-time-in-agonist-therapy-a-6-year-observational-study-in-taiwan
#12
Horng-Maw Chen, Tsung-Hsueh Lu, Kun-Chia Chang, Kuan-Ying Lee, Ching-Ming Cheng
BACKGROUND: Hepatitis C virus (HCV) infection is highly prevalent among opioid agonist therapy (OAT) patients, but little is known about long-term OAT use among this population. METHODS: Subjects diagnosed as opioid dependence were recruited from Mar. 2006 to Jul. 2008 in a psychiatry center in southern Taiwan with the OAT censored in 2012, and their socio-demographics, drug use characteristics, and markers of blood-borne infection were assessed at entry. Correlates with HCV infection and OAT retention were analyzed by multivariate logistic regression...
March 31, 2017: Addictive Behaviors
https://www.readbyqxmd.com/read/28394020/-we-will-never-be-normal-the-experience-of-discovering-a-partner-has-autism-spectrum-disorder
#13
Laura F Lewis
Online forums and lay literature suggest that partners of individuals with Autism Spectrum Disorder (ASD) experience depression, distress, and trauma in their everyday lives, exacerbated during the time surrounding diagnosis. In this content analysis, 29 participants were provided with an online open-ended statement asking them to describe in writing their experiences of discovering that their partners had ASD during their relationships. Six themes emerged, including: facing unique challenges within relationships; insisting partners seek diagnosis; initial shock and relief; losing hope for normalcy; making accommodations within relationships; and wishing for professional support...
April 10, 2017: Journal of Marital and Family Therapy
https://www.readbyqxmd.com/read/28392583/within-and-between-family-associations-of-marital-functioning-and-child-well-being
#14
Kayla Knopp, Galena K Rhoades, Elizabeth S Allen, Aleja Parsons, Lane L Ritchie, Howard J Markman, Scott M Stanley
This study clarifies within-family and between-family links between marital functioning and child wellbeing. Expanding on existing prospective research, this study tests whether changes in parents' marital functioning are associated with corresponding changes in their children's wellbeing, independent from associations that exist when comparing different families. Participants (N = 1033) were members of married, opposite-sex couples with children who participated in five waves of a larger study of marriage in the U...
April 2017: Journal of Marriage and the Family
https://www.readbyqxmd.com/read/28378065/long-term-effects-of-mental-disorders-on-marital-outcomes-in-the-national-comorbidity-survey-ten-year-follow-up
#15
Ramin Mojtabai, Elizabeth A Stuart, Irving Hwang, William W Eaton, Nancy Sampson, Ronald C Kessler
PURPOSE: Epidemiological research has consistently shown an association between mental disorders and marital dissolution. However, this research mostly examined the association of divorce as a risk factor for mental illness. This study prospectively examined the associations of mood, anxiety, and substance use disorders with future marital dissolution and new marriages in a representative population sample. METHODS: The study used data from the National Comorbidity Survey panel study-a two-wave community epidemiological survey of 5001 participants interviewed in 1990-1992 and re-interviewed in 2001-2003...
April 4, 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/28366978/gender-parenthood-and-wage-differences-the-importance-of-time-consuming-job-characteristics
#16
Charlotta Magnusson, Magnus Nermo
Using data from the Swedish Level of Living Survey (2000, 2010), we investigate how the gender wage gap varies with occupational prestige and family status and also examine the extent to which this gap is explained by time-consuming working conditions. In addition, we investigate whether there is an association between parenthood, job characteristics and wage (as differentiated by gender). The analyses indicate that there are gender differences regarding prestige-based pay-offs among parents that are partly explained by fathers' greater access to employment characterized by time-consuming conditions...
2017: Social Indicators Research
https://www.readbyqxmd.com/read/28364848/the-adolescent-family-environment-and-cohabitation-across-the-transition-to-adulthood
#17
Maggie L Thorsen
This study draws upon a sample of men and women from Waves I and IV of Add Health to examine the linkages between the adolescent family environment and cohabitation behavior across the transition to adulthood. Using event history modeling the current paper considers the association between a variety of family factors and both the timing of first cohabiting unions and their outcomes (marriage, break up, still cohabiting). This paper also considers whether the impact of predictors for cohabitation timing and outcomes varies depending on the age of individuals...
May 2017: Social Science Research
https://www.readbyqxmd.com/read/28358038/candidate-genes-for-inherited-autism-susceptibility-in-the-lebanese-population
#18
Silva Kourtian, Jihane Soueid, Nadine J Makhoul, Dikran Richard Guisso, Maria Chahrour, Rose-Mary N Boustany
Autism spectrum disorder (ASD) is characterized by ritualistic-repetitive behaviors and impaired verbal/non-verbal communication. Many ASD susceptibility genes implicated in neuronal pathways/brain development have been identified. The Lebanese population is ideal for uncovering recessive genes because of shared ancestry and a high rate of consanguineous marriages. Aims here are to analyze for published ASD genes and uncover novel inherited ASD susceptibility genes specific to the Lebanese. We recruited 36 ASD families (ASD: 37, unaffected parents: 36, unaffected siblings: 33) and 100 unaffected Lebanese controls...
March 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28344368/the-decline-of-arranged-marriage-marital-change-and-continuity-in-india
#19
Keera Allendorf, Roshan K Pandian
This article evaluates whether arranged marriage declined in India from 1970 to 2012. Specifically, the authors examine trends in spouse choice, the length of time spouses knew each other prior to marriage, intercaste marriage, and consanguineous marriage at the national level, as well as by region, urban residence, and religion/caste. During this period, women were increasingly active in choosing their own husbands, spouses meeting on their wedding day decreased, intercaste marriage rose, and consanguineous marriage fell...
September 2016: Population and Development Review
https://www.readbyqxmd.com/read/28333963/why-don-t-urban-youth-in-zambia-use-condoms-the-influence-of-gender-and-marriage-on-non-use-of-male-condoms-among-young-adults
#20
Jessie Pinchoff, Christopher B Boyer, Namuunda Mutombo, Rachna Nag Chowdhuri, Thoai D Ngo
BACKGROUND: Zambia experiences high unmet need for family planning and high rates of HIV, particularly among youth. While male condoms are widely available and 95% of adults have heard of them, self-reported use in the past 12 months is low among young adults (45%). This study describes factors associated with non-use of male condoms among urban young adults in Zambia. METHODS: A household cross-sectional survey in four urban districts was conducted from November 2015 to January 2016 among sexually active young adults ages 18-24 years...
2017: PloS One
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