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https://www.readbyqxmd.com/read/28103467/-investigation-of-genetic-etiology-in-neurodegenerative-dementias-recommendations-from-the-centro-hospitalar-s%C3%A3-o-jo%C3%A3-o-neurogenetics-group
#1
João Massano, Miguel Leão, Carolina Garrett
In the past few years several gene mutations have been identified as causative of the most frequent neurodegenerative dementias (Alzheimer disease and frontotemporal dementia). These advances, along with the complex phenotype-genotype relationships and the costs associated with genetic testing, have often made it difficult for clinicians to decide with regard to a rational plan for the investigation of the genetic etiology of the degenerative dementias. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of Alzheimer disease and frontotemporal dementia in clinical practice, based on international consensus documents (currently containing partly outdated information) and published scientific evidence on this topic...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28103398/cognitive-behavioral-and-psycho-social-factors-associated-with-successful-and-maintained-quit-smoking-status-among-patients-who-received-smoking-cessation-intervention-with-nurses-counseling
#2
Chie Taniguchi, Hideo Tanaka, Hideo Saka, Isao Oze, Kazunobu Tachibana, Yasuhiro Nozaki, Yukio Suzuki, Hisataka Sakakibara
AIM: To identify cognitive, behavioral and psycho-social factors associated with successful and maintained quit smoking status after patients received smoking cessation intervention with nurses' counseling. BACKGROUND: Although nurses' intervention for smoking cessation is effective for patients, few studies have been conducted to identify cognitive, behavioral and psycho-social factors associated with the success of quitting smoking. DESIGN: Prospective cohort study METHODS: In a multi-institutional study between October 2008 - October 2014, we administered the Japanese smoking cessation therapy, which consists of smoking cessation intervention five times with nurses' counseling over 12 weeks...
January 19, 2017: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28103371/condom-use-and-hiv-status-a-study-of-sex-workers-engaged-with-the-jamaican-aids-support-for-life-jasl
#3
H Budhwani, S Newton, K R Hearld, K Levermore
Objective: HIV prevention programs such as Jamaica AIDS Support for Life (JASL) work to lower the rate of HIV among marginalized groups. Thus, the objective of this study was to evaluate condom use and HIV status in JASL's Sex Worker (SW) population with the intent to identify behavioral differences between this self-selected group and the general SW population in Jamaica. We hypothesized that JASL's SW population would demonstrate higher condom use and a lower prevalence of HIV, potentially attributable to their prevention and education endeavours...
April 4, 2016: West Indian Medical Journal
https://www.readbyqxmd.com/read/28103310/epidemiological-and-molecular-characterization-of-a-mexican-population-isolate-with-high-prevalence-of-limb-girdle-muscular-dystrophy-type-2a-due-to-a-novel-calpain-3-mutation
#4
Carlos A Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C Zenteno
Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising from founder mutation effects have been identified. The aim of this work is to describe the results of clinical, epidemiologic, and molecular studies performed in a Mexican village segregating numerous cases of LGMD2. A population census was conducted in the village to identify all LGMD affected patients...
2017: PloS One
https://www.readbyqxmd.com/read/28103000/fertility-counseling-and-treatment-for-certain-veterans-and-spouses-interim-final-rule
#5
(no author information available yet)
The Department of Veterans Affairs (VA) amends its regulation regarding fertility counseling and treatment available to certain veterans and spouses. VA currently provides certain infertility services other than in vitro fertilization (IVF) to veterans as part of the medical benefits package. IVF is the process of fertilization by manually fertilizing an egg, and then transferring the embryo to the uterus. This interim final rulemaking adds a new section authorizing IVF for a veteran with a service-connected disability that results in the inability of the veteran to procreate without the use of fertility treatment...
19, 2017: Federal Register
https://www.readbyqxmd.com/read/28102939/what-is-the-relationship-between-increased-access-to-haart-relationship-status-and-fertility-decisions-amongst-hiv-positive-women-a-literature-review-and-meta-analysis
#6
REVIEW
Abigail Burgess, Edward Purssell
AIMS AND OBJECTIVES: To investigate the relationship between fertility decisions, to have already had a child or to desire to have one in the future, and the prognostic factors of; access to antiretrovirals, the time since these became widely available (year of the study) and relationship status. BACKGROUND: There have been significant advances in the treatment of Human Immunodeficiency Virus (HIV) with the advent of antiretroviral therapy which has been used to successfully reduce the rate of mother to child transmission; leading researchers to hypothesise that HIV positive women may desire to have children more so now than in the past...
January 19, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/28102719/pregnancy-and-delivery-in-women-with-spinal-muscular-atrophy
#7
Bakri H Elsheikh, Xiaoli Zhang, Kathryn J Swoboda, Sharon Chelnick, Sandra P Reyna, Stephen J Kolb, John T Kissel
OBJECTIVES: To expand the limited available knowledge about pregnancy and delivery in women with spinal muscular atrophy using a cohort of genetically proven SMA patients form USA. METHODS: This was a cross-sectional questionnaire-based study. We mailed questionnaires to 58 women with confirmed SMA. RESULTS: Thirty-two women responded, reporting 35 pregnancies, including 19 women with at least one pregnancy. In this cohort, preterm labor and delivery by cesarean section were more common in mothers with SMA particularly SMA type 2...
January 19, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28102653/the-effect-of-prenatal-and-postnatal-education-on-exclusive-breastfeeding-rates
#8
Fisun Vural, Birol Vural
BACKGROUND: Despite the benefits of breastfeeding, exclusive breastfeeding (EBF) rates remain low globally. Breastfeeding support has increased the initiation and duration of breastfeeding, but the optimal timing, support, and roles of antenatal and postnatal interventions are unclear. This prospective study aimed to investigate whether the addition of individual postnatal support to antenatal group counseling improved the rates of EBF until six months postpartum. METHODS: A total of 240 women who attended antenatal breastfeeding education sessions offered for postnatal support in the second and sixth weeks after delivery...
February 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28102504/stigma-and-postpartum-depression-treatment-acceptability-among-black-and-white-women-in-the-first-six-months-postpartum
#9
Susan Bodnar-Deren, E K T Benn, Amy Balbierz, E A Howell
Objective To measure stigma associated with four types of postpartum depression therapies and to estimate the association between stigma and the acceptance of these therapies for black and white postpartum mothers. Methods Using data from two postpartum depression randomized trials, this study included 481 black and white women who gave birth in a large urban hospital and answered a series of questions at 6-months postpartum. Survey items included socio demographic and clinical factors, attitudes about postpartum depression therapies and stigma...
January 19, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28101821/prevalence-and-characteristics-of-patients-with-suspected-inherited-renal-cell-cancer-application-of-the-acmg-nsgc-genetic-referral-guidelines-to-patient-cohorts
#10
Hong Truong, Sarah E Hegarty, Leonard G Gomella, William K Kelly, Edouard J Trabulsi, Costas D Lallas, Veda N Giri
Patients with suspected hereditary renal cell cancer (RCC) are under-referred for genetic evaluation. Characterizing the prevalence and characteristics of suspected inherited RCC is a crucial step toward advancing personalized, genetically-based cancer risk management for patients and their families. To evaluate the prevalence and characteristics of suspected inherited RCC syndromes based on consensus criteria, we performed a cross-sectional analysis of patients with a diagnosis of RCC in SEER (2001-2011, n = 105,754) and in our institutional cancer registry (2004-2013, n = 998)...
January 19, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28101780/update-of-the-spectrum-of-mucopolysaccharidoses-type-iii-in-tunisia-identification-of-three-novel-mutations-and-in-silico-structural-analysis-of-the-missense-mutations
#11
Souad Ouesleti, Maria Francisca Coutinho, Isaura Ribeiro, Abdehedi Miled, Dalila Saidane Mosbahi, Sandra Alves
BACKGROUND: Mucopolysaccharidoses type III (MPS III) are a group of autosomal recessive lysosomal storage diseases, caused by mutations in genes that code for enzymes involved in the lysosomal degradation of heparan sulphate: heparan sulfate sulfamidase (SGSH), α-N-acetylglucosaminidase (NAGLU), heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT), and N-acetylglucosamine-6-sulfatase (GNS). METHODS: In this study, we have performed the molecular analysis of the SGSH, NAGLU and HGSNAT genes in 10 patients from 6 different MPS III Tunisian families...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28101556/time-for-food-training-physiatrists-in-nutritional-prescription
#12
Rani Polak, Marie Dacey, Edward M Phillips
INTRODUCTION: Sub-optimal nutrition is a leading factor in all-cause mortality, the preponderance of non-communicable chronic diseases, and various health conditions that are treated by physiatrists, such as stroke and musculoske-letal disorders. Furthermore, patients with chronic pain have a high prevalence of nutritional deficiencies, and malnutrition has been associated with limited rehabilitation outcomes in elderly patients with hospital-associated deconditioning. Thus, physiatrists may find it valuable to include nutrition in their patient services...
January 18, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28101115/marital-satisfaction-and-its-influencing-factors-in-fertile-and-infertile-women
#13
Mohammad Amiri, Zakieh Sadeqi, Mohammad Hassan Hoseinpoor, Ahmad Khosravi
Objective: To determine marital satisfaction and its influencing factors among fertile and infertile women in Shahroud. Materials and methods: In this comparative study, 1528 participants (511 infertile and1017 fertile women) were evaluated using Enrich Marital Satisfaction Scale. Data were analyzed using chi-square and t-test. Results: A total of 1402 participants (78.7%) had high marital satisfaction. The results show that no significant differences exist between marital satisfaction, marital communication, conflict resolution and idealistic distortion in fertile and infertile women...
September 2016: Journal of Family & Reproductive Health
https://www.readbyqxmd.com/read/28101112/effect-of-training-preparation-for-childbirth-on-fear-of-normal-vaginal-delivery-and-choosing-the-type-of-delivery-among-pregnant-women-in-hamadan-iran-a-randomized-controlled-trial
#14
Seyedeh Zahra Masoumi, Farideh Kazemi, Khodayar Oshvandi, Mozhgan Jalali, Ali Esmaeili-Vardanjani, Hossein Rafiei
Objective: To examine effect of an educational program on pregnant women's fear of normal vaginal delivery. Fear of natural childbirth during pregnancy may increase the risk of caesarean section. Educational programs may be effective in reducing women fear of natural childbirth. Materials and methods: This randomized controlled trial conducted from September 2012 to January 2013 in Hamadan, Iran. One hundred fifty eligible women were randomly assigned to group "A" (Intervention group, n = 75) or group "B" (Control group, n = 75)...
September 2016: Journal of Family & Reproductive Health
https://www.readbyqxmd.com/read/28100442/rare-diseases-on-the-internet-an-assessment-of-the-quality-of-online-information
#15
Frédéric Pauer, Svenja Litzkendorf, Jens Göbel, Holger Storf, Jan Zeidler, Johann-Matthias Graf von der Schulenburg
BACKGROUND: The importance of the Internet as a medium for publishing and sharing health and medical information has increased considerably during the last decade. Nonetheless, comprehensive knowledge and information are scarce and difficult to find, especially for rare diseases. Additionally, the quality of health or medical information about rare diseases is frequently difficult to assess for the patients and their family members. OBJECTIVE: The aim of this study is to assess the quality of information on the Internet about rare diseases...
January 18, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28100377/-comparison-of-human-papilloma-virus-infection-status-between-men-who-have-sex-with-men-recruited-from-gay-bathhouses-and-hiv-voluntary-counseling-and-testing-clinics-respectively-in-urumqi
#16
T Tian, A J Cai, B X Huang, Ainiwaer Abidan, H Wang, J H Dai
Objective: To understand the human papilloma virus (HPV) infection status in men who have sex with men (MSM) recruited from gay bathhouses and HIV voluntary counseling and testing (VCT) clinics in Urumqi, Xinjiang Uygur autonomous region, and identify the associated risk factors. Methods: A total of 200 MSM aged ≥18 years were recruited by using the " snowballing" sampling method from gay bathhouses and VCT clinics in Urumqi during March-May, 2016. The MSM recruited completed questionnaires after filling in the informed consent form...
January 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28100326/-feeding-difficulty-and-developmental-delay-for-8-months-and-nystagmus-for-4-months-in-an-infant
#17
Jie Zhu, Fei Yu
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28100274/using-medical-specialty-and-selection-criteria-clusters-to-study-specialty-selection-by-israeli-medical-students
#18
Yoram G Weiss, Rachel Yaffa Zisk-Rony, Howard Tandeter, Uriel Elchalal, Alex Avidan, Josh E Schroeder, Charles Weissman
BACKGROUND: During their final year of medical school, Israeli students must consider which specialty to choose for residency. Based on the vocational counseling literature we presumed that choices are made by selecting from a cluster of related specialties while considering professional and socio-economic issues. METHODS: Questionnaires distributed to final-year medical students at two Israeli medical schools ascertained inclinations toward various medical specialties and the importance of various selection criteria...
January 18, 2017: BMC Medical Education
https://www.readbyqxmd.com/read/28100210/prevalence-of-psychiatric-morbidity-in-a-community-sample-in-western-kenya
#19
Edith Kwobah, Steve Epstein, Ann Mwangi, Debra Litzelman, Lukoye Atwoli
BACKGROUND: About 25% of the worldwide population suffers from mental, neurological and substance use disorders but unfortunately, up to 75% of affected persons do not have access to the treatment they need. Data on the magnitude of the mental health problem in Kenya is scarce. The objectives of this study were to establish the prevalence and the socio-demographic factors associated with mental and substance use disorders in Kosirai division, Nandi County, Western Kenya. METHODS: This was a cross sectional descriptive study in which participants were selected by simple random sampling...
January 18, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28100207/rate-and-associated-factors-of-non-retention-of-mother-baby-pairs-in-hiv-care-in-the-elimination-of-mother-to-child-transmission-programme-gulu-uganda-a-cohort-study
#20
Gerald Obai, Ruth Mubeezi, Fredrick Makumbi
BACKGROUND: Poor retention in HIV care of mother-baby pairs remains a public health challenge in the elimination of mother-to-child transmission (eMTCT) of HIV. We determined the rate of non-retention and time to non-retention of mother-baby pairs and associated factors in Gulu district, Northern Uganda. METHODS: Mother-baby pairs enrolled into the eMTCT programme at Gulu Regional Referral Hospital (GRRH) and Lacor Hospital (LH) were retrospectively followed for 18 months...
January 18, 2017: BMC Health Services Research
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