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https://www.readbyqxmd.com/read/28441660/the-phenotype-and-outcome-of-infantile-cardiomyopathy-caused-by-a-homozygous-elac2-mutation
#1
Zarghuna M A Shinwari, Abdulrahman Almesned, Ali Alakhfash, Ahmad M Al-Rashdan, Eissa Faqeih, Zainab Al-Humaidi, Ahmed Alomrani, Malak Alghamdi, Dilek Colak, Abdullah Alwadai, Monther Rababh, Majid Al-Fayyadh, Zuhair N Al-Hassnan
OBJECTIVE: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. METHODS: We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families...
April 26, 2017: Cardiology
https://www.readbyqxmd.com/read/28441571/negative-histology-with-surgically-treated-tubal-ectopic-pregnancies-a-retrospective-cohort-study
#2
Linda Farahani, Anjita Sinha, Jilly Lloyd, Melissa Islam, Jackie A Ross
OBJECTIVE: To determine the outcome of histological examinations of surgical specimens obtained from treatment of tubal ectopic pregnancy and to correlate with clinical findings, pre-operative ultrasound scans and the type of surgery. STUDY DESIGN: A retrospective cohort study of 941 women diagnosed with a tubal ectopic pregnancy in the Early Pregnancy Unit and having surgical treatment at King's College Hospital, London. Clinical and ultrasound data had been entered contemporaneously on our electronic early pregnancy database and hospital clinical records over an 11year period from 2004 to 2014...
April 2, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28441381/text-message-reminders-in-colorectal-cancer-screening-triccs-a-randomised-controlled-trial
#3
Yasemin Hirst, Hanna Skrobanski, Robert S Kerrison, Lindsay C Kobayashi, Nicholas Counsell, Natasha Djedovic, Josephine Ruwende, Mark Stewart, Christian von Wagner
BACKGROUND: We investigated the effectiveness of a text-message reminder to improve uptake of the English Bowel Cancer Screening programme in London. METHODS: We performed a randomised controlled trial across 141 general practices in London. Eight thousand two hundred sixty-nine screening-eligible adults (aged 60-74 years) were randomised in a 1 : 1 ratio to receive either a text-message reminder (n=4134) or no text-message reminder (n=4135) if they had not returned their faecal occult blood test kit within 8 weeks of initial invitation...
April 25, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28441314/radiologic-parameters-can-affect-the-preoperative-decision-making-of-three-column-spinal-osteotomies-in-the-treatment-of-severe-and-stiff-kyhposcoliosis
#4
Hengwei Fan, Xueshi Li, Zifang Huang, Wenyuan Sui, Jingfan Yang, Yaolong Deng, Chongwen Wang, Chuandong Lang, Junlin Yang
STUDY DESIGN: Retrospective analysis. OBJECTIVE: To evaluate radiologic parameters affect spine surgeon's osteotomy choice on patients with severe and stiff thoracic kyphoscoliosis. SUMMARY OF BACKGROUD DATA: Three-column osteotomies were developed to address severe and stiff kyphoscolisis. Current choice on osteotomies based on the morphology of kyphosis, global balance and locations of the main curvature, however, quantitative basis for decision-making is still lacking...
April 24, 2017: Spine
https://www.readbyqxmd.com/read/28441311/feasibility-and-outcome-of-an-accelerated-recovery-protocol-in-asian-adolescent-idiopathic-scoliosis-patients
#5
Chris Yin Wei Chan, Shweh Fern Loo, Jun Yin Ong, Kulathunga Arachchige Lisitha, M Shahnaz Hasan, Chee Kean Lee, Chee Kidd Chiu, Mun Keong Kwan
STUDY DESIGN: Prospective cohort study OBJECTIVE.: To determine the feasibility of an accelerated recovery protocol for Asian Adolescent Idiopathic Scoliosis (AIS) patients undergoing posterior spinal fusion (PSF). SUMMARY OF BACKGROUND DATA: There has been successful implementation of an accelerated recovery protocol for AIS patients undergoing PSF in the western population. No similar studies have been reported in the Asian population. METHODS: 74 AIS (65F, 9 M) patients scheduled for PSF surgery were recruited...
April 24, 2017: Spine
https://www.readbyqxmd.com/read/28441300/speech-detection-in-noise-for-young-bilaterally-implanted-children-is-there-evidence-of-binaural-benefit-over-the-shadowed-ear-alone
#6
Karyn L Galvin, Richard C Dowell, Richard J van Hoesel, Mansze Mok
OBJECTIVES: To measure binaural benefit over the shadowed ear alone for young bilateral cochlear implant (CI) users. It was hypothesized that children who received bilateral CIs at a young age (<4 years), and had significant bilateral experience, would demonstrate lower detection thresholds for speech sounds in background noise in the bilateral CI over the unilateral CI condition when the added CI was ipsilateral to the noise source. DESIGN: Children receiving bilateral CIs at the Eye and Ear Hospital Clinic in Melbourne were invited to participate in a wider research project evaluating outcomes; those participating in the wider project who were bilaterally implanted by 4 years and were approximately 2 years postoperative were included in the present study...
April 22, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28441279/congenital-etiology-is-an-independent-risk-factor-for-complications-in-adolescents-undergoing-corrective-scoliosis-surgery-comparison-of-in-hospital-comorbidities-using-nationwide-kid-s-inpatient-database
#7
Gregory W Poorman, Cyrus M Jalai, Bassel Diebo, Shaleen Vira, John Buza, Joe Baker, Jared Tishelman, Samantha Horn, Olivia Bono, Kartik Shenoy, Saqib Hasan, Justin Paul, Evan Isaacs, Ian Kaye, Abiola Atanda, Aaron J Buckland, Virginie LaFage, Thomas Errico, Peter G Passias
BACKGROUND: Congenital scoliosis (CS) is associated with more rigid, complex deformities relative to adolescent idiopathic scoliosis (AIS) which theoretically increases surgical complications. Despite extensive literature studying AIS patients, few studies have been performed on CS patients. The purpose of this study was to evaluate complications associated with spinal fusions for CS and AIS. METHODS: A retrospective review of the Kid's Inpatient Database (KID) years 2000 to 2009 was performed...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28441276/augs-consensus-statement-association-of-anticholinergic-medication-use-and-cognition-in-women-with-overactive-bladder
#8
(no author information available yet)
Overactive bladder affects a significant portion of the overall population and has substantial impact on daily activities and quality-of-life. When considering treatment, behavioral therapies should be instituted first, followed by medical therapies. Anticholinergic medications and beta-3 agonists are often used as initial pharmacologic therapy, but caution should be taken in prescribing anticholinergic medications in frail or cognitively impaired patients. Recently, concerns have developed regarding anticholinergic medications and the associated risk of cognitive impairment, dementia, and Alzheimer disease in the general population...
May 2017: Female Pelvic Medicine & Reconstructive Surgery
https://www.readbyqxmd.com/read/28441272/treating-smoking-in-adults-with-co-occurring-acute-psychiatric-and-addictive-disorders
#9
Smita Das, Norval J Hickman, Judith J Prochaska
OBJECTIVES: Tobacco use is undertreated in individuals with psychiatric and substance use disorders (SUDs), with concerns that quitting smoking may compromise recovery. We evaluated outcomes of a tobacco intervention among psychiatric patients with co-occurring SUDs. METHODS: Data from 2 randomized tobacco treatment trials conducted in inpatient psychiatry were combined; analyses focused on the subsample with co-occurring SUDs (n = 216). Usual care provided brief advice to quit and nicotine replacement therapy during the smoke-free hospitalization...
April 24, 2017: Journal of Addiction Medicine
https://www.readbyqxmd.com/read/28440899/lissencephaly-expanded-imaging-and-clinical-classification
#10
Nataliya Di Donato, Sara Chiari, Ghayda M Mirzaa, Kimberly Aldinger, Elena Parrini, Carissa Olds, A James Barkovich, Renzo Guerrini, William B Dobyns
Lissencephaly ("smooth brain," LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The LIS spectrum includes agyria, pachygyria, and subcortical band heterotopia. Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS-LIS1 (PAFAH1B1) and DCX. However, progress in molecular genetics has led to identification of 19 LIS-associated genes, leaving the existing classification system insufficient to distinguish the increasingly diverse patterns of LIS...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28440866/a-prospective-comparison-of-how-the-level-of-response-to-alcohol-and-impulsivity-relate-to-future-dsm-iv-alcohol-problems-in-the-coga-youth-panel
#11
Marc A Schuckit, Tom L Smith, George Danko, Robert Anthenelli, Lara Schoen, Mari Kawamura, John Kramer, Danielle M Dick, Zoe Neale, Samuel Kuperman, Vivia McCutcheon, Andrey P Anokhin, Victor Hesselbrock, Michie Hesselbrock, Kathleen Bucholz
BACKGROUND: Alcohol problems reflect both environmental and genetic characteristics that often operate through endophenotypes like low levels of response (low LRs) to alcohol and higher impulsivity. Relationships of these preexisting characteristics to alcohol problems have been studied, but few analyses have included both low LR and impulsivity in the same model. METHODS: We extracted prospective data from 1,028 participants in the Prospective Youth Sample of the Collaborative Study for the Genetics of Alcoholism (COGA)...
April 25, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28440587/risk-benefit-perception-of-pregnancy-among-breast-cancer-survivors
#12
P-L Hsieh, S-M Huang, L-Y Chien, C-F Lee, Y Hsiung, C-J Tai
Helping breast cancer patients who desire a pregnancy after cancer treatment is a vital issue. Little is known about the complex context of the decision to become pregnant after breast cancer treatment. The purpose of this study was to understand the risk-benefit perception of choosing conception or contraception after treatment in Taiwan. We applied grounded theory to guide this exploratory qualitative study. Data were collected through in-depth interviews with 16 breast cancer patients. Pregnancy was addressed in the context of cancer as a potentially life-threatening diagnosis and its treatment...
April 25, 2017: European Journal of Cancer Care
https://www.readbyqxmd.com/read/28440572/feasibility-of-a-multidisciplinary-intervention-to-help-cancer-patients-return-to-work
#13
M C J Leensen, I F Groeneveld, T Rejda, P Groenenboom, S van Berkel, T Brandon, A G E M de Boer, M H W Frings-Dresen
This study evaluates feasibility of a multidisciplinary intervention combining occupational counselling with physical exercise to enhance cancer patients' return to work, assesses whether care providers and patients were satisfied with the intervention, and describes barriers to and facilitators of execution. Newly diagnosed cancer patients, treated with chemotherapy and on sick leave from (self-)employment participated. Patients received counselling from an oncological occupational physician (OOP), were assessed by a sports physician, and performed a 12-week training programme supervised by physiotherapists...
April 25, 2017: European Journal of Cancer Care
https://www.readbyqxmd.com/read/28440507/a-novel-splice-site-mutation-of-wrn-c-ivs28-2t-c-identified-in-a-consanguineous-family-with-werner-syndrome
#14
Pan-Feng Wu, Jie-Yuan Jin, Jing-Jing Li, Ji-Qiang He, Liang-Liang Fan, Min Jin, Hao Huang, Kun Xia, Ju-Yu Tang, Rong Xiang
Werner Syndrome (WS) is a rare, adult‑onset progeroid syndrome that is associated with multiple age‑associated complications and relatively short life expectancy. The characteristics of WS include a 'bird‑like' appearance, canities, cataracts and ulcerations around the ankles. In addition, certain patients develop hypogonadism with atrophic genitalia and infertility. The average life span of affected individuals is 54 years. Previous studies have demonstrated that mutations in the Werner syndrome RecQ like helicase gene (WRN) may contribute to WS...
April 12, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28439756/psychological-distress-among-methadone-maintenance-patients-in-vietnamese-mountainous-areas
#15
Long Hoang Nguyen, Bach Xuan Tran, Huong Lan Thi Nguyen, Cuong Tat Nguyen, Canh Dinh Hoang, Hai Quan Le, Hung Van Nguyen, Huong Thi Le, Tho Dinh Tran, Carl A Latkin, Thuc Minh Thi Vu
We conducted a cross-sectional study in Tuyen Quang Province, a mountainous province in northern Vietnam, to examine rates of psychological distress among 241 patients receiving methadone maintenance treatment (MMT). Using the Kessler psychological distress Scale, we found that approximately one-fourth (26.8%) of respondents suffered from mental health pathologies. Physical health problems, current drug use, and alcohol abuse were found to be associated with mental health problems among the participants. Our findings highlight the high prevalence of psychological distress among MMT patients in northern Vietnam, and the need to integrate mental and physical health care services, as well as behavioral health counseling, into currently existing MMT clinics in this region...
April 24, 2017: AIDS and Behavior
https://www.readbyqxmd.com/read/28439755/what-do-key-stakeholders-think-about-hiv-self-testing-in-canada-results-from-a-cross-sectional-survey
#16
N Pant Pai, M Smallwood, D Gulati, N Lapczak, A Musten, C Gaydos, C Johnston, M Steben, T Wong, N Engel, J Kim
Human immunodeficiency virus (HIV) self-testing presents an empowering alternative to facility-based testing for reaching undiagnosed HIV infected individuals, but is not currently available in Canada. We surveyed stakeholders (clinical providers, public health professionals, researchers) engaged in HIV testing initiatives nationwide to identify the concerns, opportunities and challenges to implementing HIV self-testing in Canada. An online cross-sectional survey was disseminated by the Canadian Institutes of Health Research Centre for REACH 2...
April 24, 2017: AIDS and Behavior
https://www.readbyqxmd.com/read/28439726/a-pilot-study-of-patient-centered-outcome-assessment-using-promis-for-patients-undergoing-colorectal-surgery
#17
Traci L Hedrick, Amy M Harrigan, Robert H Thiele, Charles M Friel, Benjamin D Kozower, George J Stukenborg
PURPOSE: Few studies have assessed patient-reported outcomes following colorectal surgery. The absence of this information makes it difficult to inform patients about the near-term effects of surgery, beyond outcomes assessed by traditional clinical measures. This study was designed to provide information about the effects of colorectal surgery on physical, mental, and social well-being outcomes. METHODS: The NIH Patient-Reported Outcomes Measurement Information System (PROMIS®) Assessment Center was used to collect patient responses prior to surgery and at their routine postoperative visit...
April 24, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28439698/synergistic-effects-of-cigarette-smoking-and-varicocele-on-semen-parameters-in-715-patients
#18
Badereddin Mohamad Al-Ali, Klaus Eredics
OBJECTIVE: To evaluate whether there is a synergistic effect of varicocele and smoking status on semen parameters. METHODS: A retrospective evaluation of 715 men attending an infertility clinic between 2001 and 2009 was carried out. The presence of a varicocele was determined by clinical examination and cigarette smoking habits were documented allowing patients to be divided into 4 groups: non-smokers (n = 369), mild smokers (n = 186, 1-10 cigarettes/day), moderate smokers (n = 129, 10-20 cigarettes/day) and heavy smokers (n = 31, over 20 cigarettes/day)...
April 24, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28439579/severe-tooth-wear-european-consensus-statement-on-management-guidelines
#19
Bas Loomans, Niek Opdam, Thomas Attin, David Bartlett, Daniel Edelhoff, Roland Frankenberger, Goran Benic, Simon Ramseyer, Peter Wetselaar, Bernadette Sterenborg, Reinhard Hickel, Ulla Pallesen, Shamir Metha, Subir Banerji, Adrian Lussi, Nairn Wilson
This paper presents European expert consensus guidelines on the management of severe tooth wear. It focuses on the definition of physiological vs pathological tooth wear and recommends diagnosis, prevention, counseling, and monitoring aimed at elucidating the etiology, nature, rate and means of controlling pathological tooth wear. Management decisions are multifactorial, depending principally on the severity and effects of the wear and the wishes of the patient. Restorative intervention is typically best delayed as long as possible...
April 21, 2017: Journal of Adhesive Dentistry
https://www.readbyqxmd.com/read/28439360/psychiatry-residents-perceptions-and-reported-practices-in-providing-primary-care
#20
Lisa M Wehr, Erik R Vanderlip, Patrick H Gibbons, Jess G Fiedorowicz
BACKGROUND: Patients with psychiatric disorders have higher rates of chronic medical conditions and decreased life expectancy. Integrating medical and psychiatric care is likely to improve health outcomes for these patients. OBJECTIVE: This study examined what proportion of psychiatry residents viewed psychiatry as a primary care specialty, how important they felt it was to provide primary care to patients, and how this perception altered self-reported comfort and practice patterns in providing screening and treatment for select general medical conditions...
April 2017: Journal of Graduate Medical Education
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