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https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#1
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28719872/health-related-quality-of-life-in-patients-undergoing-lumbar-total-disc-replacement-a-comparison-with-the-general-population
#2
Clavel Pablo, Gheorghe Ungureanu, Catalá Ignasi, Guillermo Montes, Xavier Málaga, Moisés Ríos
OBJECTIVES: In up to half of the cases, low back pain (LBP) is thought to be related to a degeneration of the lumbar disc. Lumbar total disc replacement (LTDR) emerged as an alternative to fusion, but its use and indications are still subject to debate. The purpose of this paper was to compare Health-related Quality of life (HRQOL) in patients undergoing LTDR for one or two-level degenerative disc disease (DDD) with the paired age and gender general population values and to assess functional disability and residual pain at one year after the surgical procedure...
July 11, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28719557/functional-gain-and-pain-relief-after-total-joint-replacement-according-to-obesity-status
#3
Wenjun Li, David C Ayers, Courtland G Lewis, Thomas R Bowen, Jeroan J Allison, Patricia D Franklin
BACKGROUND: Obesity has been associated with lower function and more pain before and after total hip or knee replacement (THR or TKR). We examined the changes between preoperative and postoperative function and pain in a large representative U.S. cohort to determine if there was a relationship to obesity status. METHODS: Preoperative and 6-month postoperative data on function (Short Form-36 Physical Component Summary [PCS] score), joint pain (Hip disability and Osteoarthritis Outcome Score and Knee injury and Osteoarthritis Outcome Score), and body mass index (BMI) were collected from a national sample of 2,040 patients who had undergone THR and 2,964 who had undergone TKR from May 2011 to March 2013...
July 19, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28719555/the-influence-of-shortening-on-clinical-outcome-in-healed-displaced-midshaft-clavicular-fractures-after-nonoperative-treatment
#4
E B Goudie, N D Clement, I R Murray, C R Lawrence, M Wilson, A J Brooksbank, C M Robinson
BACKGROUND: We aimed to evaluate the effect of clavicular shortening, measured with 3-dimensional computed tomography (3DCT), on functional outcomes and satisfaction in patients with healed displaced midshaft clavicular fractures up to 1 year following injury. METHODS: The data used in this study were collected as part of a multicenter, prospective randomized controlled trial of open reduction and plate fixation compared with nonoperative treatment for acute, displaced midshaft clavicular factures...
July 19, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28719554/treatment-of-displaced-midshaft-clavicle-fractures-figure-of-eight-harness-versus-anterior-plate-osteosynthesis-a-randomized-controlled-trial
#5
Marcel Jun Sugawara Tamaoki, Fabio Teruo Matsunaga, Adelmo Rezende Ferreira da Costa, Nicola Archetti Netto, Marcelo Hide Matsumoto, Joao Carlos Belloti
BACKGROUND: Most midshaft clavicle fractures affect the economically active population, which is negatively impacted by transient limb impairment during the treatment. There is still debate about the advantages and disadvantages of surgical treatment for these fractures. METHODS: In this prospective randomized controlled trial, 117 patients were allocated to 1 of 2 groups: nonsurgical treatment with a figure-of-eight harness or surgical treatment with anteroinferior plate osteosynthesis...
July 19, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28719553/the-effect-of-a-lay-led-group-based-self-management-program-for-patients-with-chronic-pain-a-randomized-controlled-trial-of-the-danish-version-of-the-chronic-pain-self-management-programme
#6
Mimi Mehlsen, Lea Hegaard, Eva Ørnbøl, Jens Søndergaard Jensen, Per Fink, Lisbeth Frostholm
The Stanford Chronic Pain Self-Management Programme (CPSMP) consists of six 2½-hour weekly workshops focusing on how to manage pain in daily life. The workshops are facilitated by two workshop leaders of whom at least one must suffer from a long-term pain condition. The program is highly structured and manualized. Only few controlled trials testing the effect of CPSMP exist.Enrolled in the study were 424 adults from 19 Danish municipalities, (72% women; age: 25-93 years) with pain of any etiology and great variation in pain history (0-50 yrs)...
June 22, 2017: Pain
https://www.readbyqxmd.com/read/28719298/cognitive-outcomes-and-psychiatric-symptoms-of-retinopathy-positive-cerebral-malaria-cohort-description-and-baseline-results
#7
Rachel Brim, Sebastian Mboma, Margaret Semrud-Clikeman, Sam Kampondeni, Jed Magen, Terrie Taylor, John Langfitt
Cerebral malaria (CM) is a common cause of death and disability among children in sub-Saharan Africa. Many prior studies of neuropsychiatric morbidity have been limited by a cross-sectional design or a short duration of follow-up. Most have included subjects who may have presented with coma due to a disease process other than CM. No studies have assessed the relationship between magnetic resonance imaging (MRI) findings and long-term outcomes. The Cognitive Outcomes and Psychiatric symptoms of retinopathy-positive CM (COPS) cohort is the first large (N = 221) prospectively recruited cohort of stringently defined cases of CM and hospital-based, age-matched, non-CM controls in whom cognitive and psychiatric outcomes are assessed with standardized measures semi-annually for up to 5 years...
July 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28719286/the-economic-value-of-long-lasting-insecticidal-nets-and-indoor-residual-spraying-implementation-in-mozambique
#8
Bruce Y Lee, Sarah M Bartsch, Nathan T B Stone, Shufang Zhang, Shawn T Brown, Chandrani Chatterjee, Jay V DePasse, Eli Zenkov, Olivier J T Briët, Chandana Mendis, Kirsi Viisainen, Baltazar Candrinho, James Colborn
AbstractMalaria-endemic countries have to decide how much of their limited resources for vector control to allocate toward implementing long-lasting insecticidal nets (LLINs) versus indoor residual spraying (IRS). To help the Mozambique Ministry of Health use an evidence-based approach to determine funding allocation toward various malaria control strategies, the Global Fund convened the Mozambique Modeling Working Group which then used JANUS, a software platform that includes integrated computational economic, operational, and clinical outcome models that can link with different transmission models (in this case, OpenMalaria) to determine the economic value of vector control strategies...
June 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28719274/risk-factors-for-podoconiosis-kamwenge-district-western-uganda-september-2015
#9
Christine Kihembo, Ben Masiira, William Z Lali, Gabriel K Matwale, Joseph K B Matovu, Frank Kaharuza, Alex R Ario, Immaculate Nabukenya, Issa Makumbi, Monica Musenero, Bao-Ping Zhu, Miriam Nanyunja
AbstractPodoconiosis, a noninfectious elephantiasis, is a disabling neglected tropical disease. In August 2015, an elephantiasis case-cluster was reported in Kamwenge District, western Uganda. We investigated to identify the disease's nature and risk factors. We defined a suspected podoconiosis case as onset in a Kamwenge resident of bilateral asymmetrical lower limb swelling lasting ≥ 1 month, plus ≥ 1 of the following associated symptoms: skin itching, burning sensation, plantar edema, lymph ooze, prominent skin markings, rigid toes, or mossy papillomata...
June 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28719263/burden-of-disease-attributed-to-waterborne-transmission-of-selected-enteric-pathogens-australia-2010
#10
Katherine B Gibney, Joanne O'Toole, Martha Sinclair, Karin Leder
AbstractUniversal access to safe drinking water is a global priority. To estimate the annual disease burden of campylobacteriosis, nontyphoidal salmonellosis, cryptosporidiosis, giardiasis, and norovirus attributable to waterborne transmission in Australia, we multiplied regional World Health Organization (WHO) estimates of the proportion of cases attributable to waterborne transmission by estimates of all-source disease burden for each study pathogen. Norovirus was attributed as causing the most waterborne disease cases (479,632; 95% uncertainty interval [UI]: 0-1,111,874) followed by giardiasis and campylobacteriosis...
June 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28719254/prevalence-and-risk-factors-for-human-cystic-echinococcosis-in-the-cusco-region-of-the-peruvian-highlands-diagnosed-using-focused-abdominal-ultrasound
#11
Francesca Tamarozzi, Amy Hou, Maria Luisa Morales, Maria Teresa Giordani, Freddy Vilca, Karen Mozo, Ruben Bascope, A Clinton White, Enrico Brunetti, Lin Chen, Miguel M Cabada
AbstractLatin America is among the highly endemic regions for cystic echinococcosis (CE). In Peru, an estimated 1,139 disability-adjusted life years are lost annually from surgical treatment of CE. This is comparable with the combined total for Argentina, Brazil, Uruguay, and Chile. The prevalence of human infection has been investigated in the central Peruvian Andes, but there are no community-based screening data from other regions of Peru. We carried out a population survey in January 2015 using abdominal ultrasound to estimate the prevalence of abdominal CE in the Canas and Canchis provinces, in the Cusco region of Peru...
June 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28719236/applying-an-artificial-neural-network-model-for-developing-a-severity-score-for-patients-with-hereditary-amyloid-polyneuropathy
#12
Shenia Novis, Felipe Machado, Victor B Costa, Debora Foguel, Marcia W Cruz, José Manoel de Seixas
Hereditary (familial) amyloid polyneuropathy (FAP) is a systemic disease that includes a sensorimotor polyneuropathy related to transthyretin (TTR) mutations. So far, a scale designed to classify the severity of this disease has not yet been validated. This work proposes the implementation of an artificial neural network (ANN) in order to develop a severity scale for monitoring the disease progression in FAP patients. In order to achieve this goal, relevant symptoms and laboratory findings were collected from 98 Brazilian patients included in THAOS - the Transthyretin Amyloidosis Outcomes Survey...
July 18, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28719232/long-term-outcomes-of-a-multidisciplinary-weight-management-intervention-for-youth-with-disabilities
#13
Ashleigh A Pona, Meredith L Dreyer Gillette, Cathleen Odar Stough, Janelle K Gerling, Brooke R Sweeney
BACKGROUND: Youth with disabilities are at increased risk for obesity compared with their typically developing peers and face unique barriers to healthy lifestyles. A limited number of weight management programs have been specifically tailored to accommodate youth with disabilities, and outcomes research in this population is scarce. We investigated the effectiveness of a specialized multidisciplinary weight management program for children with disabilities. METHODS: Youth (N = 115) ages 2-18 years (mean age = 10...
July 18, 2017: Childhood Obesity
https://www.readbyqxmd.com/read/28719227/simvastatin-as-an-adjunctive-therapy-to-risperidone-in-treatment-of-autism-a-randomized-double-blind-placebo-controlled-clinical-trial
#14
Ehsan Moazen-Zadeh, Fatemeh Shirzad, Mohammad-Ali Karkhaneh-Yousefi, Rasoul Khezri, Mohammad-Reza Mohammadi, Shahin Akhondzadeh
OBJECTIVES: Providing novel treatments for autism has been a subject of long-standing research. Based on etiopathological findings, we aim at assessing potential therapeutic effects of statins, here simvastatin, on autism symptoms for the first time. METHODS: In this randomized, double-blind, placebo-controlled, parallel-group 10-week clinical trial, 70 drug-free children aged 4 to 12 years old with diagnosis of autistic disorder based on the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision, who had an Aberrant Behavior Checklist-Community (ABC-C) scale irritability subscale score of ≥12, were equally randomized to receive either simvastatin (20-40 mg/day) or placebo as an adjunct to risperidone (1-2 mg/day) whereas administration of both drugs was started simultaneously from baseline...
July 18, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28719048/developmental-mechanisms-of-intervertebral-disc-and-vertebral-column-formation
#15
REVIEW
Lisa Y Lawson, Brian D Harfe
The vertebral column consists of repeating units of ossified vertebrae that are adjoined by fibrocartilagenous intervertebral discs. These structures form from the embryonic notochord and somitic mesoderm. In humans, congenital malformations of the vertebral column include scoliosis, kyphosis, spina bifida, and Klippel Feil syndrome. In adulthood, a common malady affecting the vertebral column includes disc degeneration and associated back pain. Indeed, recent reports estimate that low back pain is the number one cause of disability worldwide...
July 18, 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28719020/fibrin-ogen-and-neurodegeneration-in-the-progressive-multiple-sclerosis-cortex
#16
Richard L Yates, Margaret M Esiri, Jacqueline Palace, Benjamin Jacobs, Rafael Perera, Gabriele C DeLuca
OBJECTIVE: Neuronal loss, a key substrate of irreversible disability in multiple sclerosis (MS), is a recognised feature of MS cortical pathology of which the cause remains unknown. Fibrin(ogen) deposition is neurotoxic in animal models of MS, but has not been evaluated in human progressive MS cortex. The aim of this study was to investigate the extent and distribution of fibrin(ogen) in progressive MS cortex and elucidate its relationship with neurodegeneration. METHODS: A post-mortem cohort of pathologically confirmed MS (n=47) and control (n=10) cases was used...
July 18, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28718998/disconnected-lives-women-with-intellectual-disabilities-in-conflict-with-the-law
#17
Kathryn Ann Levine, Jocelyn Proulx, Karen Schwartz
BACKGROUND: Women with intellectual/developmental disabilities in conflict with the law experience childhood trauma, substance abuse and intimate partner violence but continue to have difficulty accessing appropriate therapeutic services, both within correctional settings and upon discharge. The aim of this study is to explore women's service needs and to critically assess whether the available services are meeting their identified needs. METHOD: Semi-structured interviews were conducted with 16 women with intellectual/developmental disabilities who were in the Special Needs Unit of a women's correctional centre from December 2014 to March 2015...
July 18, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28718963/peer-support-for-families-of-children-with-complex-needs-development-and-dissemination-of-a-best-practice-toolkit
#18
J Schippke, C Provvidenza, S Kingsnorth
BACKGROUND: Benefits of peer support interventions for families of children with disabilities and complex medical needs have been described in the literature. An opportunity to create an evidence-informed resource to synthesize best practices in peer support for program providers was identified. The objective of this paper is to describe the key activities used to develop and disseminate the Peer Support Best Practice Toolkit. METHODS: This project was led by a team of knowledge translation experts at a large pediatric rehabilitation hospital using a knowledge exchange framework...
July 18, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28718716/estimating-the-number-of-adults-with-severe-and-persistent-mental-illness-who-have-complex-multi-agency-needs
#19
Harvey Whiteford, Bill Buckingham, Meredith Harris, Sandra Diminic, Emily Stockings, Louisa Degenhardt
OBJECTIVE: A population health approach to mental health service planning requires estimates that align interventions with the needs of people with mental illness. The primary objective was to estimate the number of people in Australia living with severe and persistent mental illness who have complex, multi-agency needs. The secondary objective was to describe the possible service needs of individuals with severe mental illness. METHODS: We disaggregated the estimated 12-month prevalence of adults with severe mental illness into needs-based sub-groups, using multiple data sources...
August 2017: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/28718697/pain-drawings-predict-outcome-of-surgical-treatment-for-degenerative-disc-disease-in-the-cervical-spine
#20
Anna MacDowall, Yohan Robinson, Martin Skeppholm, Claes Olerud
INTRODUCTION: Pain drawings have been frequently used in the preoperative evaluation of spine patients. For lumbar conditions comprehensive research has established both the reliability and predictive value, but for the cervical spine most of this knowledge is lacking. The aims of this study were to validate pain drawings for the cervical spine, and to investigate the predictive value for treatment outcome of four different evaluation methods. METHODS: We carried out a post hoc analysis of a randomized controlled trial, comparing cervical disc replacement to fusion for radiculopathy related to degenerative disc disease...
July 18, 2017: Upsala Journal of Medical Sciences
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