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https://www.readbyqxmd.com/read/28339061/identification-of-two-novel-mutations-in-the-slco2a1-prostaglandin-transporter-gene-in-a-chinese-patient-with-primary-hypertrophic-osteoarthropathy
#1
Ting Guo, Kai Yang, Lv Liu, Zhi-Ping Tan, Hong Luo
Primary hypertrophic osteoarthropathy (PHO), which is a rare multi‑organic disease characterized by digital clubbing, pachydermia and periosteal reaction, typically begins during childhood or adolescence and progresses gradually over years prior to disease stabilization. To date, only two genes have been reported to be associated with PHO, 15‑hydroxyprostaglandin dehydrogenase and solute carrier organic anion transporter family, member 2A1 (SLCO2A1). However, the pathogenesis and the functions of the underlying genes remain to be fully elucidated...
March 24, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28339057/gpr143-mutations-in-chinese-patients-with-ocular-albinism-type-1
#2
Xiuhua Jia, Jin Yuan, Xiaoyun Jia, Shiqi Ling, Shiqiang Li, Xiangming Guo
The aim of the present study was to evaluate mutations of the G protein-coupled receptor 143 (GPR143) gene for ocular albinism type 1 (OA1) in Chinese patients. For the current study, 8 patients with OA1 were selected from the database of ocular genetic diseases. Genomic DNA of OA1 was prepared from venous leukocytes collected from the patients. Cycle sequencing was used to analyze the exons and adjacent introns of GPR143. The variation detected was analyzed by bidirectional DNA sequencing and further evaluated in 96 controls using heteroduplex‑single strand conformational polymorphism analysis...
March 23, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28338449/development-of-a-preoperative-predictive-model-for-major-complications-following-adult-spinal-deformity-surgery
#3
Justin K Scheer, Justin S Smith, Frank Schwab, Virginie Lafage, Christopher I Shaffrey, Shay Bess, Alan H Daniels, Robert A Hart, Themistocles S Protopsaltis, Gregory M Mundis, Daniel M Sciubba, Tamir Ailon, Douglas C Burton, Eric Klineberg, Christopher P Ames
OBJECTIVE The operative management of patients with adult spinal deformity (ASD) has a high complication rate and it remains unknown whether baseline patient characteristics and surgical variables can predict early complications (intraoperative and perioperative [within 6 weeks]). The development of an accurate preoperative predictive model can aid in patient counseling, shared decision making, and improved surgical planning. The purpose of this study was to develop a model based on baseline demographic, radiographic, and surgical factors that can predict if patients will sustain an intraoperative or perioperative major complication...
March 24, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28338444/the-role-of-diet-in-multiple-sclerosis-a-review
#4
Sabrina Esposito, Simona Bonavita, Maddalena Sparaco, Antonio Gallo, Gioacchino Tedeschi
Multiple sclerosis (MS) is a multifactorial, inflammatory, and neurodegenerative disease of the central nervous system, where environmental factors interact with genetic susceptibility. The role of diet on MS has not been comprehensively elucidated; therefore, through an extensive search of relevant literature, this review reports the most significant evidence regarding nutrition as a possible co-factor influencing the inflammatory cascade by acting on both its molecular pathways and gut microbiota. Since nutritional status and dietary habits in MS patients have not been extensively reported, the lack of a scientific-based consensus on dietary recommendation in MS could encourage many patients to experiment alternative dietetic regimens, increasing the risk of malnutrition...
March 24, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28338303/what-is-the-quickest-scoring-system-to-predict-percutaneous-nephrolithotomy-outcomes-a-comparative-study-among-s-t-o-n-e-score-guy-s-stone-score-and-croes-nomogram
#5
Fabio C Vicentini, Felipe R Serzedello, Kay Thomas, Giovanni S Marchini, Fabio C M Torricelli, Miguel Srougi, Eduardo Mazzucchi
OBJECTIVE: To compare the application time and the capacity of the nomograms to predict the success of Guy's Stone Score (GSS), S.T.O.N.E. Nephrolithometry (STONE) and Clinical Research Office of the Endourological Society nephrolithometric nomogram (CROES) of percutaneous nephrolithotomy (PCNL), evaluating the most efficient one for clinical use. MATERIALS AND METHODS: We studied 48 patients who underwent PCNL by the same surgeon between 2010 and 2011. We calculated GSS, STONE and CROES based on preoperative non-contrast computed tomography (CT) images and clinical data...
March 24, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/28336768/care-of-girls-and-women-with-turner-syndrome-beyond-growth-and-hormones
#6
Caroline Culen, Diana-Allexandra Ertl, Katharina Schubert, Lisa Bartha-Doering, Gabriele Haeusler
Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2,500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life...
March 23, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28336746/understanding-dutch-practice-nurses-adherence-to-evidence-based-smoking-cessation-guidelines-and-their-needs-for-web-based-adherence-support-results-from-semistructured-interviews
#7
D de Ruijter, E S Smit, H de Vries, L Goossens, C Hoving
OBJECTIVES: Practice nurses in general practices suboptimally adhere to smoking cessation guidelines. Since the effectiveness of their smoking cessation support is greatest when full adherence to these guidelines is achieved, interventions need to be developed to improve practice nurses' guideline adherence, for example, by tailoring their content to adherence determinants. However, the sociocognitive determinants explaining adherence have not yet been investigated. Therefore, this qualitative needs assessment aimed to explore practice nurses' current counselling practices, as well as their sociocognitive beliefs related to their smoking cessation guideline adherence and their needs regarding web-based adherence support...
March 22, 2017: BMJ Open
https://www.readbyqxmd.com/read/28336485/low-dose-computed-tomography-for-lung-cancer-screening-clinical-and-coding-considerations
#8
REVIEW
Yiwey Shieh, Martin Bohnenkamp
Lung cancer screening with low-dose computed tomography (LDCT) was shown to reduce lung cancer mortality in the National Lung Screening Trial, a large randomized-controlled trial of high-risk current and former smokers. Despite ongoing uncertainty over the effectiveness of LDCT in the real-world setting, the Centers for Medicare and Medicaid Services (CMS) decided to cover LDCT as a preventive service. As part of its national coverage determination, CMS set forth a series of requirements for reimbursement of LDCT, including a counseling and shared decision-making visit prior to a LDCT being ordered...
March 21, 2017: Chest
https://www.readbyqxmd.com/read/28336349/decisional-capacity-for-advanced-care-directives-in-parkinson-s-disease-with-cognitive-concerns
#9
Muneer Abu Snineh, Richard Camicioli, Janis M Miyasaki
INTRODUCTION: Physician Orders for Life Sustaining Therapies (POLST) or Goals of Care (GOC) are legal documents to guide intensity of interventions (ICU, resuscitation, hospitalization or comfort care) completed by healthcare professionals following counseling of patients or their designated medical decision makers. Capacity (understanding, appreciation, reasoning and expressing a choice) to consent to POLST or GOC has not been determined among Parkinson's disease (PD) patients. We sought to assess GOC PD decisional capacity for those with cognitive complaints but not dementia...
March 8, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28335664/cognitive-behavioral-intervention-compared-to-telephone-counselling-early-after-mild-traumatic-brain-injury-a-randomized-trial
#10
Myrthe Elisabeth Scheenen, Annemarie Cecile Visser-Keizer, Myrthe Elisabeth de Koning, Harm Jan van der Horn, Peter van de Sande, Marlies Elisabeth van Kessel, Joukje van der Naalt, Jacoba M Spikman
Many patients do not return to work (RTW) following mild Traumatic Brain Injury (mTBI) due to persistent complaints that are often resistant to therapy in the chronic phase. Recent studies suggest that psychological interventions should be implemented early after injury to prevent patients from developing chronic complaints. This study is a randomized controlled trial which examines the effectiveness of a newly developed CBT intervention (CBTi) compared to telephonic counseling (TC) in at risk mTBI patients (patients with high reports of early complaints)...
March 23, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28334328/vestibular-aqueduct-midpoint-width-and-hearing-loss-in-patients-with-an-enlarged-vestibular-aqueduct
#11
Mustafa S Ascha, Nauman Manzoor, Amit Gupta, Maroun Semaan, Cliff Megerian, Todd D Otteson
Importance: Elucidating the relationship between vestibular aqueduct size and hearing loss progression may inform the prognosis and counseling of patients who have an enlarged vestibular aqueduct (EVA). Objectives: To examine the association between vestibular aqueduct size and repeated measures of hearing loss. Design, Setting, and Participants: For this retrospective medical record review, 52 patients with a diagnosis of hearing loss and radiologic diagnosis of EVA according to the Valvassori criterion were included...
March 23, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28333906/-phonosurgery-treatment-options-in-male-to-female-and-female-to-male-transsexuals
#12
Bożena Kosztyła-Hojna, Greta Berger, Vitaly Gryniewicz, Eugeniusz Tarasów
The voice is an important part of human identity. The voice is susceptible to impact of hormons mainly sexual hormons. The larynx is one of secondary sex characacteristics. Disorders of voice pose serious obstacle to full social integration in male to female and female to male transsexuals. The causes of transsexuality are still a matter of considerable debate. Now it is considered that, big nucleus suprachiasmaticus in the hypothalamus may be a cause of transsexuality. The aim of phonosurgery in transsexual patients is to gain acceptable voice by the patients...
March 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28333842/review-article-sexuality-and-risk-reducing-salpingo-oophorectomy
#13
Paige E Tucker, Paul A Cohen
INTRODUCTION: Women with familial cancer syndromes such as hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2) and Lynch syndrome are at a significantly increased risk of developing ovarian cancer and are advised to undergo prophylactic removal of their ovaries and fallopian tubes at age 35 to 40 years, after childbearing is complete. METHODS: A comprehensive literature search of studies on risk-reducing salpingo-oophorectomy (RRSO), sexuality, and associated issues was conducted in MEDLINE databases...
March 23, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28333841/audit-of-ca125-follow-up-after-first-line-therapy-for-ovarian-cancer
#14
Daniel Krell, Fran Said Battistino, Sarah Benafif, Lochani Ganegoda, Marcia Hall, Gordon J S Rustin
AIMS: The Medical Research Council OVO5/EORTC 55955 trial showed that patients in remission after first-line therapy for ovarian cancer did not benefit from routine measurement of CA125 during follow-up. Since the presentation of these results, we have counseled patients about the options for follow-up and provided them with an information leaflet about the trial results and the symptoms that should prompt an early appointment and CA125 measurement. We present an audit of practice after the presentation of those results...
March 23, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28333822/committee-opinion-no-694-management-of-mesh-and-graft-complications-in-gynecologic-surgery
#15
(no author information available yet)
This document focuses on the management of complications related to mesh used to correct stress urinary incontinence or pelvic organ prolapse. Persistent vaginal bleeding, vaginal discharge, or recurrent urinary tract infections after mesh placement should prompt an examination and possible further evaluation for exposure or erosion. A careful history and physical examination is essential in the diagnosis of mesh and graft complications. A clear understanding of the location and extent of mesh placement, as well as the patient's symptoms and therapy goals, are necessary to plan treatment approaches...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28333821/committee-opinion-no-693-counseling-about-genetic-testing-and-communication-of-genetic-test-results
#16
(no author information available yet)
Given the increasing availability and complexity of genetic testing, it is imperative that the practicing obstetrician-gynecologist or other health care provider has a firm comprehension of the benefits, limitations, and risks of offering a specific genetic test, as well as the importance of appropriate pretest and posttest counseling. The purpose of this Committee Opinion is to provide an outline of how obstetrician-gynecologists and other health care providers can best incorporate these tests into their current practices and provide appropriate pretest and posttest counseling to patients...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28333814/committee-opinion-no-694-summary-management-of-mesh-and-graft-complications-in-gynecologic-surgery
#17
(no author information available yet)
This document focuses on the management of complications related to mesh used to correct stress urinary incontinence or pelvic organ prolapse. Persistent vaginal bleeding, vaginal discharge, or recurrent urinary tract infections after mesh placement should prompt an examination and possible further evaluation for exposure or erosion. A careful history and physical examination is essential in the diagnosis of mesh and graft complications. A clear understanding of the location and extent of mesh placement, as well as the patient's symptoms and therapy goals, are necessary to plan treatment approaches...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28333813/committee-opinion-no-693-summary-counseling-about-genetic-testing-and-communication-of-genetic-test-results
#18
(no author information available yet)
Given the increasing availability and complexity of genetic testing, it is imperative that the practicing obstetrician-gynecologist or other health care provider has a firm comprehension of the benefits, limitations, and risks of offering a specific genetic test, as well as the importance of appropriate pretest and posttest counseling. The purpose of this Committee Opinion is to provide an outline of how obstetrician-gynecologists and other health care providers can best incorporate these tests into their current practices and provide appropriate pretest and posttest counseling to patients...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28333777/arteriovenous-lesions-of-the-internal-auditory-canal
#19
Charles L Anzalone, John I Lane, Michael J Link, Matthew L Carlson
OBJECTIVE: To describe a unique case of an asymptomatic arteriovenous lesion of the internal auditory canal (IAC) and present the associated imaging findings. METHODS: Retrospective case report and review of the literature. RESULTS: A 55-year-old man presented for further evaluation of a left-sided sudden sensorineural hearing loss that occurred 8 years earlier. Careful review of outside serial magnetic resonance (MR) imaging revealed a contralateral, ill-defined right-sided IAC mass with low T2 signal and subtle peripheral enhancement on postcontrast T1-weighted sequencing...
March 22, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28333698/misuse-of-pediatric-medications-and-parent-physician-communication-an-interactive-voice-response-intervention
#20
Kathleen E Walsh, Janine Bacic, Barrett D Phillips, William G Adams
BACKGROUND: Children take 1 medication each week on average at home. Better communication between parents and providers could support safer home medication use and prevent misuse of pediatric medications, such as intentional underdosing or overdosing. Our primary objective was to assess the impact of an interactive voice response system on parent-provider communication about medications. METHODS: Parents of children 4 months to 11 years of age with upcoming well child visits were invited to call our interactive voice response system, called Personal Health Partner (PHP), which asked questions about the child's health and medication use...
March 22, 2017: Journal of Patient Safety
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