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https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#1
John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand
Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#2
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098581/timing-of-pavlik-harness-initiation-can-we-wait
#3
Jill E Larson, Anay R Patel, Brian Weatherford, Joseph A Janicki
BACKGROUND: Developmental dysplasia of the hip is effectively treated with a Pavlik harness (PH) within the first 6 months of life. Over 80% of unstable hips in the newborn period will naturally stabilize by 2 months of age. If there is no difference in the effectiveness of initiating PH treatment at 1 week compared with 4 weeks of age, waiting may allow the hips to naturally stabilize and avoid treatment. The purpose of this study is to evaluate whether the timing of PH implementation influences its effectiveness in the treatment of developmental dysplasia of the hip...
January 16, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28098508/evaluation-of-a-social-norms-approach-to-a-suicide-prevention-campaign
#4
Kami J Silk, Evan K Perrault, Samantha A Nazione, Kristin Pace, Jan Collins-Eaglin
Suicide is a leading cause of death for college-aged youth, and university counseling centers (UCC) strive to educate students about mental health issues and available campus services. The current research evaluates a college campus social norms campaign that used both peer and celebrity sources to promote help seeking among college students as a suicide prevention strategy. Postcampaign surveys of this quasi-experiment (n = 391) revealed that compared to students in the control neighborhood condition, students exposed to the campaign messages in the experimental neighborhood conditions were more likely to perceive students would refer a friend to the UCC and more likely to visit the UCC for a mental health concern...
January 18, 2017: Journal of Health Communication
https://www.readbyqxmd.com/read/28098052/effect-of-maternal-dietary-counselling-during-the-1st-year-of-life-on-glucose-profile-and-insulin-resistance-at-the-age-of-8-years-a-randomised-field-trial
#5
Cintia S Costa, Paula D B Campagnolo, L H Lumey, Marcia R Vitolo
Education interventions that stimulate complementary feeding practices can improve the nutritional status of children and may protect against future chronic diseases. We assessed the long-term effectiveness of dietary intervention during the 1st year of life on insulin resistance levels, and investigated the relationship between insulin resistance and weight changes over time. A randomised field trial was conducted among 500 mothers who gave birth to full-term infants between October 2001 and June 2002 in a low-income area in São Leopoldo, Brazil...
January 18, 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28097314/complications-of-bilateral-neck-dissection-in-thyroid-cancer-from-a-single-high-volume-center
#6
Caitlin McMullen, Daniel Rocke, Jeremy Freeman
Importance: The morbidity of bilateral lateral neck dissection (BLND) for thyroid cancers has not been described in detail. This study delineates the specific complications arising from BLND for thyroid cancers at a single high-volume center. Objective: To determine the morbidity associated with BLNDs for differentiated thyroid cancers at our institution. Design, Setting, and Participants: This was a retrospective review of medical records performed to identify patients having undergone BLNDs for thyroid cancers by a single surgeon at an academic, tertiary medical center in Toronto, Ontario, Canada, from 1988 to 2015...
January 12, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28097296/long-term-postprocedural-outcomes-of-palliative-emergency-stenting-vs-stoma-in-malignant-large-bowel-obstruction
#7
Jonathan S Abelson, Heather L Yeo, Jialin Mao, Jeffrey W Milsom, Art Sedrakyan
Importance: Colonic stenting was introduced for palliation of malignant large-bowel obstruction (MLBO) more than 20 years ago but remains controversial. Objective: To compare outcomes after palliative stenting vs stoma creation in patients with MLBO requiring emergency management. Design, Setting, and Participants: This observational cohort study assessed 345 patients from New York State with an urgent or emergency admission to the hospital for obstruction secondary to colorectal cancer and who underwent stenting or stoma creation from October 1, 2009, through December 31, 2013...
January 11, 2017: JAMA Surgery
https://www.readbyqxmd.com/read/28096981/experience-of-mowat-wilson-syndrome-prenatal-diagnosis-for-a-chinese-family
#8
Qian Jiang, Xiaoxiao Zhang, Yinan Ma, Qi Li, Chunhua Zheng, Yuchun Yan, Zhen Zhang, Ping Xiao, Lin Su, Wei Cheng, Hong Pan, Long Li
Mowat-Wilson syndrome (MWS) is a complex developmental disorder. We report the first prenatal diagnosis provided for a family in mainland China after identifying the causal mutation for the proband. Special focus on MWS-related organs during prenatal ultrasound scan is described which is extremely important for genetic counseling of parents.
January 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28096903/anxiety-and-depression-symptoms-among-women-attending-group-based-patient-education-courses-for-hereditary-breast-and-ovarian-cancer
#9
Wenche Listøl, Hildegunn Høberg-Vetti, Geir Egil Eide, Cathrine Bjorvatn
BACKGROUND: Women carrying BRCA-mutations are facing significant challenges, including decision making regarding surveillance and risk-reducing surgery. They often report that they are left alone with these important decisions. In order to enhance the genetic counselling session we organized a group-based patient education (GPE) course for women with BRCA-mutations. The study aims were to characterize women attending a group-based patient education (GPE) course for hereditary breast and ovarian cancer, consider the usefulness of the course, evaluate symptoms of anxiety and depression among the participants, and finally investigate whether their levels of anxiety and depression changed from before to after the course session...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28096637/prevalence-of-female-sexual-dysfunction-among-indian-fertile-females
#10
Vineet V Mishra, Sakshi Nanda, Bhumika Vyas, Rohina Aggarwal, Sumesh Choudhary, Suwa Ram Saini
BACKGROUND: Female sexual dysfunction (FSD) is described as difficulty experienced by a female during any stage of a normal sexual activity including physical pleasure, desire, arousal, or orgasm. There are various factors responsible for FSD including psychological status of a person, gynecological or medical problems, long use of certain drugs, and social beliefs. OBJECTIVES: To study the prevalence and various factors associated with FSD. MATERIALS AND METHODS: Study Design - This study design was a cross-sectional observational study conducted at Tertiary Care Centre, in Ahmedabad from June 2015 to March 2016...
October 2016: Journal of Mid-life Health
https://www.readbyqxmd.com/read/28095996/antenatal-predictors-of-outcome-in-prenatally-diagnosed-congenital-diaphragmatic-hernia-cdh
#11
REVIEW
Titilayo Oluyomi-Obi, Verena Kuret, Pramod Puligandla, Abhay Lodha, Helen Lee-Robertson, Kovid Lee, David Somerset, Joann Johnson, Greg Ryan
BACKGROUND: Pulmonary hypoplasia is the main cause of mortality in isolated congenital diaphragmatic hernia (CDH) and its prediction is paramount when counseling parents. We sought to identify antenatal parameters that predicted neonatal mortality in CDH. METHOD: Search was conducted in MEDLINE, EMBASE, Cochrane Database of Systematic reviews, PubMed, Scopus, and Web of Science on the ability of lung-to-head ratio (LHR), observed-to-expected LHR (o/e LHR), total fetal lung volume (TFLV), o/e TFLV, percentage predicted lung volume (PPLV) and degree of liver herniation to predict neonatal morbidity and mortality in fetuses with CDH...
December 21, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28095855/meet-us-on-the-phone-mobile-phone-programs-for-adolescent-sexual-and-reproductive-health-in-low-to-middle-income-countries
#12
REVIEW
Nicole B Ippoliti, Kelly L'Engle
INTRODUCTION: mHealth as a technical area has seen increasing interest and promise from both developed and developing countries. While published research from higher income countries on mHealth solutions for adolescent sexual and reproductive health (SRH) is growing, there is much less documentation of SRH mHealth interventions for youth living in resource-poor settings. We conducted a global landscape analysis to answer the following research question: How are programs using mHealth interventions to improve adolescent SRH in low to middle income countries (LMICs)? METHODS: To obtain the latest information about mHealth programs targeting youth SRH, a global call for project resources was issued in 2014...
January 17, 2017: Reproductive Health
https://www.readbyqxmd.com/read/28095804/pulmonary-manifestations-in-niemann-pick-type-c-disease-with-mutations-in-npc2-gene-case-report-and-review-of-literature
#13
Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth
BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene. CASE PRESENTATION: Case-1, a 14-months-old female presented with recurrent respiratory distress, failure to thrive and hepatosplenomegaly...
January 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28095706/translation-and-pilot-testing-of-a-measure-to-assess-hypertension-self-care-activities-among-hispanics
#14
Jan Warren-Findlow, Maren J Coffman, Celia A Karp
OBJECTIVE: Hispanics in the US have high rates of uncontrolled hypertension in comparison to non-Hispanic whites. This pilot study reports on the translation of a validated measure, the Hypertension Self-Care Activity Level Effects (H-SCALE), for use with Spanish speakers. The H-SCALE assesses Hispanics' adherence to lifestyle activities that contribute to primary and secondary risk reduction of high blood pressure. DESIGN: Cross-sectional data were collected from Hispanic primary care patients attending a free health clinic in Charlotte, NC...
January 17, 2017: Ethnicity & Health
https://www.readbyqxmd.com/read/28095440/comprehensive-maturity-onset-diabetes-of-the-young-mody-gene-screening-in-pregnant-women-with-diabetes-in-india
#15
Mahesh Doddabelavangala Mruthyunjaya, Aaron Chapla, Asha Hesarghatta Shyamasunder, Deny Varghese, Manika Varshney, Johan Paul, Mercy Inbakumari, Flory Christina, Ron Thomas Varghese, Kurien Anil Kuruvilla, Thomas V Paul, Ruby Jose, Annie Regi, Jessie Lionel, L Jeyaseelan, Jiji Mathew, Nihal Thomas
Pregnant women with diabetes may have underlying beta cell dysfunction due to mutations/rare variants in genes associated with Maturity Onset Diabetes of the Young (MODY). MODY gene screening would reveal those women genetically predisposed and previously unrecognized with a monogenic form of diabetes for further clinical management, family screening and genetic counselling. However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India. In this study, utilizing the Next generation sequencing (NGS) based protocol fifty subjects were screened for variants in a panel of thirteen MODY genes...
2017: PloS One
https://www.readbyqxmd.com/read/28095160/minimal-loss-of-lifetime-for-patients-with-diffuse-large-b-cell-lymphoma-in-remission-and-event-free-24-months-after-treatment-a-danish-population-based-study
#16
Lasse Hjort Jakobsen, Martin Bøgsted, Peter de Nully Brown, Bente Arboe, Judit Jørgensen, Thomas Stauffer Larsen, Maja Bech Juul, Lene Schurmann, Linda Højberg, Olav Jonas Bergmann, Therese Lassen, Pär Lars Josefsson, Paw Jensen, Hans Erik Johnsen, Tarec Christoffer El-Galaly
Purpose The general outlook for patients with diffuse large B-cell lymphoma (DLBCL) in first remission is important information for patients and for planning post-treatment follow-up. The purpose of this study was to evaluate the survival of patients with DLBCL in remission compared with a matched general population. Methods A total of 1,621 patients from the Danish Lymphoma Registry who were newly diagnosed with DLBCL between 2003 and 2011 were included in this study. All patients were ≥ 16 years of age at diagnosis and had achieved complete remission or complete remission unconfirmed after first-line rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) or R-CHOP-like therapy...
January 17, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28095004/correction-to-mandel-et-al-2015
#17
(no author information available yet)
Reports an error in "Self-critical perfectionism and depressive and anxious symptoms over 4 years: The mediating role of daily stress reactivity" by Tobey Mandel, David M. Dunkley and Molly Moroz (Journal of Counseling Psychology, 2015[Oct], Vol 62[4], 703-717). (The following abstract of the original article appeared in record 2015-32534-001.) This study of 150 community adults examined heightened emotional reactivity to daily stress as a mediator in the relationships between self-critical (SC) perfectionism and depressive and anxious symptoms over a period of 4 years...
January 16, 2017: Journal of Counseling Psychology
https://www.readbyqxmd.com/read/28094433/bmp15-knockout-like-effect-in-familial-premature-ovarian-insufficiency-with-persistent-ovarian-reserve
#18
Anne Mayer, Baptiste Fouquet, Michel Pugeat, Micheline Misrahi
Premature ovarian insufficiency (POI) affects 1-2% of women under 40 years. BMP15 variants have been described in POI. We studied a family with two sisters compound heterozygous for deletions in the BMP15 gene on chromosome Xp11.22 yielding a human "knockout-like" effect: a c.151_152delGA deletion yielded a p.Glu51IlefsTer27 mutation transmitted by the hemizygous father and a c.189_198delAGGGCATTCAinsTG deletion/insertion yielded a p.Glu64AlafsTer12 mutation transmitted by the heterozygous mother. Both deletions resulted in frameshifts with premature stop codons at positions 78 and 76 in the proregion, precluding mature BMP15 production...
January 17, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28094228/health-promotion-in-practice-district-nurses-experiences-of-working-with-health-promotion-and-lifestyle-interventions-among-patients-at-risk-of-developing-cardiovascular-disease
#19
Kristina Lundberg, Miek C Jong, Lisbeth Kristiansen, Mats Jong
OBJECTIVE: Health Promotion Practice (HPP) has the objective to promote a healthier lifestyle and reduce the risk of disease. The aim of this study was to examine district nurses׳ experiences of working with health preventive actions among patients with risk factors for cardiovascular disease (CVD), and to identify facilitators and obstacles in HPP. DESIGN/SETTING: The study was carried out with a qualitative approach where individual semistructured interviews were performed with a total of 12 district nurses in primary care...
December 16, 2016: Explore: the Journal of Science and Healing
https://www.readbyqxmd.com/read/28093663/large-prospective-analysis-of-the-reasons-patients-do-not-pursue-brca-genetic-testing-following-genetic-counseling
#20
Sommer Hayden, Sarah Mange, Debra Duquette, Nancie Petrucelli, Victoria M Raymond
Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT...
January 16, 2017: Journal of Genetic Counseling
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