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https://www.readbyqxmd.com/read/28102719/pregnancy-and-delivery-in-women-with-spinal-muscular-atrophy
#1
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/28101821/prevalence-and-characteristics-of-patients-with-suspected-inherited-renal-cell-cancer-application-of-the-acmg-nsgc-genetic-referral-guidelines-to-patient-cohorts
#2
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
#3
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
#4
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/28100442/rare-diseases-on-the-internet-an-assessment-of-the-quality-of-online-information
#5
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/28100274/using-medical-specialty-and-selection-criteria-clusters-to-study-specialty-selection-by-israeli-medical-students
#6
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/28100136/barriers-to-access-and-uptake-of-antiretroviral-therapy-among-hiv-positive-men-who-have-sex-with-men-in-hanoi-vietnam-from-hiv-testing-to-treatment
#7
Hao T M Bui, Giang M Le, Anh Q Mai, Iryna Zablotska-Manos, Lisa Maher
Little is known about the experiences of Vietnamese men who have sex with men in accessing HIV testing and treatment. We aimed to explore barriers to access and uptake of antiretroviral therapy (ART) among HIV-positive men who have sex with men in Hanoi. During 2015, we conducted qualitative interviews with 35 participants recruited using snowball sampling based on previous research and social networks. Key individual impediments to ART uptake included inadequate preparation for a positive diagnosis and the dual stigmatisation of homosexuality and HIV and its consequences, leading to fear of disclosure of HIV status...
January 19, 2017: Culture, Health & Sexuality
https://www.readbyqxmd.com/read/28100133/development-of-the-clinically-adaptive-multidimensional-outcome-survey
#8
Peter W Sanders, P Scott Richards, Jason A Mcbride
OBJECTIVE: Routine outcome monitoring (ROM) has been strongly endorsed by psychotherapy researchers, but has yet to achieve widespread implementation in clinical settings. This article describes the development of the Clinically Adaptive Multidimensional Outcome Survey (CAMOS), an innovative ROM system that allows for local adaptation while providing high quality data. METHOD: Three-hundred and four clients at a university counseling center and 211 female patients at an eating disorder treatment facility were administered the CAMOS at intake, and 118 took the CAMOS at both intake and discharge...
January 19, 2017: Psychotherapy Research: Journal of the Society for Psychotherapy Research
https://www.readbyqxmd.com/read/28100072/trial-vocal-fold-injection-predicts-thyroplasty-outcomes-in-nonparalytic-glottic-incompetence
#9
Lukas D Dumberger, Lewis Overton, Robert A Buckmire, Rupali N Shah
OBJECTIVES: Trial vocal fold injection (TVFI) may be used prior to permanent medialization when voice outcome is uncertain. We aimed to determine whether voice outcomes of TVFI are predictive of, or correlate with outcomes after type I Gore-Tex medialization thyroplasty (GMT) in patients with nonparalytic glottic incompetence (GI). METHODS: Thirty-five patients with nonparalytic GI who underwent TVFI followed by GMT were retrospectively reviewed. Change in voice-related quality of life (VRQOL) after TVFI was compared to change in VRQOL 3 to 9 months after GMT...
January 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28100068/prevalence-patterns-and-correlates-of-hiv-disclosure-among-tb-hiv-patients-initiating-antiretroviral-therapy-in-lesotho
#10
Eleanor Hayes-Larson, Yael Hirsch-Moverman, Suzue Saito, Koen Frederix, Blanche Pitt, Bridget Llang Maama, Andrea A Howard
Disclosure of HIV-positive status has important implications for patient outcomes and preventing HIV transmission, but has been understudied in TB-HIV patients. We assessed disclosure patterns and correlates of non-disclosure among adult TB-HIV patients initiating ART enrolled in the START Study, a mixed-methods cluster-randomized trial conducted in Lesotho, which evaluated a combination intervention package (CIP) versus standard of care. Interviewer-administered questionnaire data were analyzed to describe patterns of disclosure...
January 18, 2017: AIDS Care
https://www.readbyqxmd.com/read/28099274/can-any-patients-with-chronic-myeloid-leukemia-outside-of-a-clinical-trial-have-their-tyrosine-kinase-inhibitor-discontinued
#11
Michael J Mauro
PURPOSE OF REVIEW: This article critically appraises the state of treatment-free remission as a strategy for patients with chronic myeloid leukemia (CML) in deep remission after therapy with tyrosine kinase inhibitors (TKIs). RECENT FINDINGS: Approximately half of patients with CML defined fairly narrowly by trial criteria - TKI sensitive, in deep molecular remission for a defined period - can successfully maintain protective levels of response after TKI cessation...
January 17, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#12
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
#13
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
#14
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/28097314/complications-of-bilateral-neck-dissection-in-thyroid-cancer-from-a-single-high-volume-center
#15
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
#16
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/28096903/anxiety-and-depression-symptoms-among-women-attending-group-based-patient-education-courses-for-hereditary-breast-and-ovarian-cancer
#17
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
#18
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/28095706/translation-and-pilot-testing-of-a-measure-to-assess-hypertension-self-care-activities-among-hispanics
#19
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
#20
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
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