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https://www.readbyqxmd.com/read/28805615/prenatal-diagnosis-of-holoprosencephaly-associated-with-smith-lemli-opitz-syndrome-slos-in-a-46-xx-fetus
#1
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805613/a-complicated-urethrovaginal-fistula-following-an-inappropriate-urethral-diverticulum-management
#2
Tsia-Shu Lo, Sukanda Bin Jaili, Rami Ibrahim
OBJECTIVE: Urethral diverticulum is uncommon, therefore appropriate evaluation, preoperative planning and counseling must be done in order to make correct diagnosis and prevent complications. MATERIALS AND METHODS: A case of anterior vaginal wall mass was treated elsewhere by a gynecologist as periurethral cyst abscess; incision and drainage were done but a symptom of pus discharge was observed after 2 weeks. Therefore, exploration, cyst wall excision and primary closure were done though histopathological examination surprisingly confirmed the presence of urethral tissue suggestive of diverticulum...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805599/nationwide-trends-and-in-hospital-complications-of-trachelectomy-for-surgically-resectable-cervical-cancer-in-taiwanese-women-a%C3%A2-population-based-study-1998-2013
#3
Jerry Cheng-Yen Lai, Hung-Hui Chen, Kuei-Hui Chu, Chia-Sui Weng, Yiing-Jenq Chou, Nicole Huang, Yu-Ju Chien, Kung-Liahng Wang
OBJECTIVE: To describe the nationwide trends in the utilization of trachelectomy among Taiwanese women with surgically resectable cervical cancer over the past decade, and to compare associated demographic characteristics, in-hospital complications and related outcomes using a population-based dataset from 1998 to 2013. MATERIALS AND METHODS: We conducted a population-based, cohort study using inpatient admission claims data of Taiwan's National Health Insurance program...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805535/if-when-and-how-to-discuss-available-abortion-services-in-the-primary-care-setting
#4
Megan Hatcher, Carie Muntifering Cox, Grace Shih
Many women prefer to receive abortion care with their primary care provider; yet, prior studies have suggested that women do not know or assume that their provider does not offer abortion care. Our objective was to explore if, when, and how women wish to be informed of available abortion services at their primary care clinics. We conducted interviews with 21 women at their primary care site during June-July 2014. Vignettes were used to identify clinic visit types in which information regarding abortion services would be welcome, and appropriate and inappropriate ways for providers to inform patients of these services...
August 14, 2017: Women & Health
https://www.readbyqxmd.com/read/28805074/comparing-the-new-york-state-smokers-quitline-reach-services-offered-and-quit-outcomes-to-44-other-state-quitlines-2010-to-2015
#5
Nathan Mann, James Nonnemaker, LeTonya Chapman, Asma Shaikh, Jesse Thompson, Harlan Juster
PURPOSE: To summarize the reach, services offered, and cessation outcomes of the New York Quitline and compare with other state quitlines. DESIGN: Descriptive study. SETTING: Forty-five US states. PARTICIPANTS: State-sponsored tobacco cessation quitlines in 45 US states that provided complete data to the Centers for Disease Control and Prevention's National Quitline Data Warehouse (NQDW) for 24 quarters over 6 years (2010-Q1 through 2015-Q4)...
January 1, 2017: American Journal of Health Promotion: AJHP
https://www.readbyqxmd.com/read/28804652/use-of-over-the-counter-medication-among-pregnant-women-in-sharjah-united-arab-emirates
#6
Abduelmula R Abduelkarem, Hafsa Mustafa
BACKGROUND: Over-the-counter medications are widely available in pharmacies Their safety profile, however, does not extend to pregnant women. Accordingly, there should be educational programs developed for pregnant women to protect them from the harms of the side effects. AIM: This study was planned and designed with the aim of exploring the awareness and assessing the usage of OTC medications among pregnant women in Sharjah, UAE. METHOD: A cross-sectional survey using a self-administered questionnaire...
2017: Journal of Pregnancy
https://www.readbyqxmd.com/read/28803953/fibrosis-stage-but-not-nash-predicts-mortality-and-time-to-development-of-severe-liver-disease-in-biopsy-proven-nafld
#7
Hannes Hagström, Patrik Nasr, Mattias Ekstedt, Ulf Hammar, Per Stål, Rolf Hultcrantz, Stergios Kechagias
BACKGROUND AND AIMS: Non-alcoholic fatty liver disease (NAFLD) is highly common in the general population, but identifying patients with increased risk for mortality and liver-specific morbidity remains a challenge. Non-alcoholic steatohepatitis (NASH) is thought to enhance this risk; therefore, resolution of NASH is a major endpoint in current pharmacologic studies. METHODS: We conducted a retrospective cohort study of 646 biopsy-proven NAFLD patients. Each case was matched for age, sex and municipality to ten controls...
August 10, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28803755/communicating-complex-genomic-information-a-counselling-approach-derived-from-research-experience-with-autism-spectrum-disorder
#8
Ny Hoang, Cheryl Cytrynbaum, Stephen W Scherer
Individuals with Autism Spectrum Disorder (ASD) share characteristics (impairments in socialization and communication, and repetitive interests and behaviour), but differ in their developmental course, pattern of symptoms, and cognitive and language abilities. The development of standardized phenotyping has revealed ASD to clinically be vastly heterogeneous, ranging from milder presentations to more severe forms associated with profound intellectual disability. Some 100 genes have now been implicated in the etiology of ASD, and advances in genome-wide testing continue to yield new data at an unprecedented rate...
July 29, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28803754/corrigendum-to-ehealth-literacy-in-chronic-disease-patients-an-item-response-theory-analysis-of-the-ehealth-literacy-scale-eheals-patient-educ-counseling-100-2-february-2017-320-326
#9
Samantha R Paige, Janice L Krieger, Michael Stellefson, Julia M Alber
No abstract text is available yet for this article.
August 10, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28803420/psychosocial-needs-and-facilitators-of-mothers-caring-for-children-with-duchenne-becker-muscular-dystrophy
#10
Holly L Peay, Bettina Meiser, Kathleen Kinnett, Aad Tibben
Care guidelines for Duchenne/Becker muscular dystrophy (DBMD) include recommendations for assessment of caregivers of patients with DBMD followed by proactive psychosocial interventions. To inform clinical assessment, this study described appraisals of psychosocial needs and caregiving facilitators of mothers of individuals with DBMD. Two hundred and five mothers completed an online survey. More than 50% endorsed unmet needs for managing uncertainty about the future and managing DBMD fears. Higher levels of unmet need were associated with less disease progression/earlier stage of DBMD (rho = -0...
August 12, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28803392/attitudes-of-individuals-with-gaucher-disease-toward-substrate-reduction-therapies
#11
Victoria F Wagner, Hope Northrup, S Shahrukh Hashmi, Joanne M Nguyen, Mary Kay Koenig, Jessica M Davis
Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapies (ERTs). More recently, oral substrate reduction therapies (SRTs) were approved for treatment of GD. Although both therapies alleviate disease symptoms, attitudes toward SRTs and patient perceptions of health while using SRT have not been well established. Electronic surveys were administered to adults with GD and asked about treatment history, attitudes toward SRTs, and perception of health while using SRTs as compared to ERTs, if applicable to the participant...
August 13, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28803391/mutational-analysis-of-the-rb1-gene-and-the-inheritance-patterns-of-retinoblastoma-in-jordan
#12
Yacoub A Yousef, Abdelghani Tbakhi, Maysa Al-Hussaini, Ibrahim AlNawaiseh, Ala Saab, Amal Afifi, Maysa Naji, Mona Mohammad, Rasha Deebajah, Imad Jaradat, Iyad Sultan, Mustafa Mehyar
Retinoblastoma (RB) is a childhood cancer developing in the retina due to RB1 pathologic variant. Herein we are evaluating the oncogenic mutations in the RB1 gene and the inheritance patterns of RB in the Jordanian patients. In this prospective study, the peripheral blood of 50 retinoblastoma patients was collected, genomic DNA was extracted, mutations were identified using Quantitative multiplex PCR (QM-PCR), Allele-specific PCR, Next Generation Sequencing analysis, and Sanger sequencing. In this cohort of 50 patients, 20(40%) patients had unilateral RB and 30(60%) were males...
August 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28803169/stereotactic-radiosurgery-for-dural-arteriovenous-fistulas-without-cortical-venous-reflux
#13
Daniel A Tonetti, Bradley A Gross, Brian T Jankowitz, Kyle M Atcheson, Hideyuki Kano, Edward A Monaco, Ajay Niranjan, L Dade Lunsford
BACKGROUND: The rationale for treatment of dural arteriovenous fistulas (dAVF) without cortical venous reflux is symptomatic resolution. Most studies of dural arteriovenous fistula treatment, including those for stereotactic radiosurgery (SRS), have focused on angiographic obliteration instead of clinical symptomatic outcome. METHODS: The authors evaluated their institutional experience with SRS for cerebral dAVFs without cortical venous reflux from 1991 to 2016, evaluating angiographic and clinical outcomes, focusing on the course of pulsatile tinnitus and/or ocular symptoms after treatment...
August 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28801981/pregnancy-outcomes-in-mothers-of-offspring-with-inherited-bone-marrow-failure-syndromes
#14
Neelam Giri, Helen D Reed, Pamela Stratton, Sharon A Savage, Blanche P Alter
BACKGROUND: Children with inherited bone marrow failure syndromes (IBMFSs) may be symptomatic in utero, resulting in maternal and fetal problems during the pregnancy. Subsequent pregnancies by their mothers should be considered "high risk". METHODS: We retrospectively analyzed outcomes of 575 pregnancies in 165 unaffected mothers of offspring with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) for events noted during pregnancy, labor, and delivery...
August 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28801976/implications-of-fetoplacental-mosaicism-on-cell-free-dna-testing-for-sex-chromosome-aneuploidies
#15
Francesca Romana Grati, Komal Bajaj, Valentina Zanatta, Francesca Malvestiti, Barbara Malvestiti, Livia Marcato, Beatrice Grimi, Federico Maggi, Giuseppe Simoni, Susan J Gross, Jose Ferreira
OBJECTIVE: The unique biological behavior of sex chromosomes has implications for cell-free DNA (cfDNA) testing. Our purpose is to predict the i) false positive/negative rates (FPR/FNR) of cfDNA testing consequent to feto-placental mosaicism for any sex chromosome anomaly (SCA) ii) positive (PPV) and negative predictive values (NPV) of a high- and low-risk cfDNA result for any SCA. METHOD: Retrospective analysis of 67030 chorionic villus sampling (CVS) karyotypes, including feto-placental mosaicism cases...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28801880/effects-of-educational-intervention-on-nurses-knowledge-and-attitude-towards-providing-cervical-cancer-screening-information-in-selected-health-facilities-in-ibadan-nigeria
#16
Chizoma M Ndikom, Bola A Ofi, Folashade O Omokhodion, Patricia O Bakare, Cecilia Olusade Adetayo
Cervical cancer is a major cause of death among women especially in developing nations. It can be prevented through screening yet many women are unaware of screening options. Nurses are in vantage position to provide cervical cancer screening (CCS) information and services especially in antenatal clinics. The purpose of this study is to evaluate the effects of an educational intervention (EI) on nurses' knowledge and attitude towards providing CCS information. This quasi-experimental study was conducted in eight health facilities in Ibadan, Nigeria...
August 11, 2017: Journal of Cancer Education: the Official Journal of the American Association for Cancer Education
https://www.readbyqxmd.com/read/28801648/an-effective-combination-of-whole-exome-sequencing-and-runs-of-homozygosity-for-the-diagnosis-of-primary-ciliary-dyskinesia-in-consanguineous-families
#17
Ting Guo, Zhi-Ping Tan, Hua-Mei Chen, Dong-Yuan Zheng, Lv Liu, Xin-Gang Huang, Ping Chen, Hong Luo, Yi-Feng Yang
Primary ciliary dyskinesia (PCD) is clinically characterized by neonatal respiratory distress, chronic sinusitis, bronchiectasis and infertility, and situs inversus in 50% of the patients. PCD is a result of mutations in genes encoding proteins involved in ciliary function, and is primarily inherited in an autosomal recessive fashion. Diagnosis of PCD is often a challenging task due to its high clinical and genetic heterogeneities. In the present study, we attempted to use whole-exome sequencing (WES) combined with runs of homozygosity (ROH) approaches to identify the genetic defects in four Chinese consanguineous families with clinical PCD...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28801009/management-of-radiation-side-effects-to-the-skin
#18
REVIEW
Tracy Gieger, Michael Nolan
Radiation therapy (RT) is an essential component for management of many cancers. Veterinary health care professionals must counsel owners about the potential side effects of RT, the anticipated management plan, and associated costs. For most veterinary patients treated with RT, acute radiation side effects are mild; however, careful radiation treatment planning and appropriate management of acute side effects are essential to try to prevent chronic sequelae and the need for ongoing wound care. This article reviews acute and late side effects to the skin and their management...
August 9, 2017: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/28800943/genetic-consultation-embedded-in-a-gynecologic-oncology-clinic-improves-compliance-with-guideline-based-care
#19
Leigha Senter, David M O'Malley, Floor J Backes, Larry J Copeland, Jeffery M Fowler, Ritu Salani, David E Cohn
OBJECTIVE: Analyze the impact of embedding genetic counseling services in gynecologic oncology on clinician referral and patient uptake of cancer genetics services. METHODS: Data were reviewed for a total of 737 newly diagnosed epithelial ovarian cancer patients seen in gynecologic oncology at a large academic medical center including 401 from 11/2011-7/2014 (a time when cancer genetics services were provided as an off-site consultation). These data were compared to data from 8/2014-9/2016 (n=336), when the model changed to the genetics embedded model (GEM), incorporating a cancer genetic counselor on-site in the gynecologic oncology clinic...
August 8, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28800606/whole-exome-sequencing-as-a-diagnostic-tool-for-patients-with-ciliopathy-like-phenotypes
#20
Sheila Castro-Sánchez, María Álvarez-Satta, Mohamed A Tohamy, Sergi Beltran, Sophia Derdak, Diana Valverde
Ciliopathies are a group of rare disorders characterized by a high genetic and phenotypic variability, which complicates their molecular diagnosis. Hence the need to use the latest powerful approaches to faster identify the genetic defect in these patients. We applied whole exome sequencing to six consanguineous families clinically diagnosed with ciliopathy-like disease, and for which mutations in predominant Bardet-Biedl syndrome (BBS) genes had previously been excluded. Our strategy, based on first applying several filters to ciliary variants and using many of the bioinformatics tools available, allowed us to identify causal mutations in BBS2, ALMS1 and CRB1 genes in four families, thus confirming the molecular diagnosis of ciliopathy...
2017: PloS One
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