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https://www.readbyqxmd.com/read/29786810/-epilepsy-and-comorbid-neurodevelopmental-disorders
#1
Viviann Nordin, Ingrid B Olsson, Torbjörn Tomson
In children and adults with epilepsy, it is important to be aware of and diagnose common comorbidities that may have a large impact on quality of life. Comorbid neurodevelopmental disorders include intellectual disability, autism, and attention deficit hyperactivity disorder (ADHD). Depression and anxiety are common findings, and also the risk of psychosis is increased. The medication used to treat these comorbidities is found to be effective with little risks of seizure exacerbation, i.e. medication with methylphenidate, selective serotonin reuptake inhibitors (SSRIs) and second generation neuroleptics...
May 22, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29786571/-the-disorders-of-the-musculoskeletal-system-in-patients-hospitalized-in-the-geriatric-ward
#2
Maria Matla, Jakub Rajtar-Zembaty, Waldemar Zawada
OBJECTIVE: Introduction: In recent years the interest in the quality of life in old age has been rising, which no doubt is closely linked with the growing population of elderly people. The problems associated with declined functionality of the locomotor system, which naturally occur with age, contribute to increasing morbidity in elderly patients. It is known that lack of exercise can lead to increased aging and disability. Applying the Senior Fitness Test (SFT) allows to explore and assess the patient's mobility...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29786528/modelling-correlated-data-multilevel-models-and-generalized-estimating-equations-and-their-use-with-data-from-research-in-developmental-disabilities
#3
Dimitrios Vagenas, Vasiliki Totsika
BACKGROUND: The use of Multilevel Models (MLM) and Generalized Estimating Equations (GEE) for analysing clustered data in the field of intellectual and developmental disability (IDD) research is still limited. METHOD: We present some important features of MLMs and GEEs: main function, assumptions, model specification and estimators, sample size and power. We provide an overview of the ways MLMs and GEEs have been used in IDD research. RESULTS: While MLMs and GEEs are both appropriate for longitudinal and/or clustered data, they differ in the assumptions they impose on the data, and the inferences made...
May 18, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29786461/gender-and-diagnostic-impact-on-everyday-technology-use-a-differential-item-functioning-dif-analysis-of-the-everyday-technology-use-questionnaire-etuq
#4
Anders Kottorp, Camilla Malinowsky, Maria Larsson-Lund, Louise Nygård
BACKGROUND: As the use of everyday technology is increasingly important for participation in daily activities, more in-depth knowledge of everyday technology use in relation to diagnosis and gender is needed. The purpose of this study was to investigate the stability of the perceived challenge of a variety of everyday technologies across different samples of varying diagnoses including both males and females. METHODS: This cross-sectional study used 643 data records from clinical and research samples, including persons with dementia or related disorders, acquired brain injury, intellectual disability, various mental or medical disorders, and adults without known diagnoses...
May 22, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29786165/comparative-study-of-1-year-clinical-and-radiological-outcomes-using-robot-assisted-pedicle-screw-fixation-and-freehand-technique-in-posterior-lumbar-interbody-fusion-a-prospective-randomized-controlled-trial
#5
Ho-Joong Kim, Kyoung-Tak Kang, Heoung-Jae Chun, Ji Sup Hwang, Bong-Soon Chang, Choon-Ki Lee, Jin S Yeom
BACKGROUND: The purpose of this study was to compare the clinical outcome of surgery using robot-assisted posterior interbody fusion with that using freehand posterior interbody fusion in patients with degenerative spinal disease. METHODS: 78 participants with degenerative spinal disease were randomly allocated (1:1) to the minimally invasive (MIS), posterior lumbar interbody fusion (Robot-PLIF) or conventional, freehand, open-approach, posterior lumbar interbody fusion (Freehand-PLIF)...
May 22, 2018: International Journal of Medical Robotics + Computer Assisted Surgery: MRCAS
https://www.readbyqxmd.com/read/29785926/intramedullary-nail-fixation-versus-locking-plate-fixation-for-adults-with-a-fracture-of-the-distal-tibia-the-uk-fixdt-rct
#6
Matthew L Costa, Juul Achten, Susie Hennings, Nafisa Boota, James Griffin, Stavros Petrou, Mandy Maredza, Melina Dritsaki, Thomas Wood, James Masters, Ian Pallister, Sarah E Lamb, Nick R Parsons
BACKGROUND: The best treatment for fractures of the distal tibia remains controversial. Most of these fractures require surgical fixation, but the outcomes are unpredictable and complications are common. OBJECTIVES: To assess disability, quality of life, complications and resource use in patients treated with intramedullary (IM) nail fixation versus locking plate fixation in the 12 months following a fracture of the distal tibia. DESIGN: This was a multicentre randomised trial...
May 2018: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/29785807/renewal-during-functional-communication-training
#7
Valdeep Saini, William E Sullivan, Emily L Baxter, Nicole M DeRosa, Henry S Roane
Functional communication training (FCT) is one of the most commonly prescribed interventions for the treatment of severe destructive behavior exhibited by individuals with intellectual disabilities. Although highly effective, FCT has been shown to fail in some cases when treatment is introduced into the child's typical environment. Basic and translational research on renewal provides a model for studying the relapse of destructive behavior following successful response to treatment in clinic settings using FCT...
May 21, 2018: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/29785805/fairness-severe-intellectual-disability-and-the-special-case-of-transplantation
#8
REVIEW
Aaron Wightman, Aviva Goldberg, Douglas Diekema
Children with severe intellectual disability have historically been excluded from solid organ transplantation. The purpose of this article was to review the arguments for excluding this population, including claims of poorer recipient and graft survival, a lower QoL as pediatric recipients become adults, and poorer outcomes for other, more deserving pediatric transplant candidates, and make the case that these arguments are no longer persuasive. We will argue that pediatric transplant centers for reasons of social justice, value of relationships, power differential, and fairness should generally not consider intellectual ability or disability as a criterion when making decisions regarding organ transplant eligibility...
May 21, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29785777/paradoxical-effect-of-baclofen-on-social-behavior-in-the-fragile-x-syndrome-mouse-model
#9
Shimriet Zeidler, Andreea S Pop, Israa A Jaafar, Helen de Boer, Ronald A M Buijsen, Celine E F de Esch, Ingeborg Nieuwenhuizen-Bakker, Renate K Hukema, Rob Willemsen
INTRODUCTION: Fragile X syndrome (FXS) is a common monogenetic cause of intellectual disability, autism spectrum features, and a broad range of other psychiatric and medical problems. FXS is caused by the lack of the fragile X mental retardation protein (FMRP), a translational regulator of specific mRNAs at the postsynaptic compartment. The absence of FMRP leads to aberrant synaptic plasticity, which is believed to be caused by an imbalance in excitatory and inhibitory network functioning of the synapse...
April 26, 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29785655/early-results-after-operatively-versus-non-operatively-treated-flail-chest-a-retrospective-study-focusing-on-outcome-and-complications
#10
Mathieu M E Wijffels, Tjebbe Hagenaars, Diba Latifi, Esther M M Van Lieshout, Michael H J Verhofstad
PURPOSE: Flail chest was traditionally treated non-operatively using mechanical ventilation and pain control. In order to reduce the occurrence of ventilation-associated complications and long-term disability, operative rib fixation is becoming a proven standard therapy for these patients. However, the consequences of the surgical complications may influence success rates negatively. The aim of this study was to compare the outcome of flail chest treatment by surgical rib fixation with non-operative treatment, with special focus on the impact of surgical complications...
May 21, 2018: European Journal of Trauma and Emergency Surgery: Official Publication of the European Trauma Society
https://www.readbyqxmd.com/read/29785523/efficacy-and-safety-of-rituximab-in-relapsing-and-progressive-multiple-sclerosis-a-hospital-based-study
#11
Carmen Alcalá, F Gascón, F Pérez-Miralles, S Gil-Perotín, A Navarré, I Boscá, F Coret, B Casanova
INTRODUCTION: Rituximab is considered as a potential therapeutic option in relapsing-remitting (RRMS) and progressive forms (PMS) of multiple sclerosis (MS). OBJECTIVE: To investigate the effectiveness and safety of rituximab in MS. PATIENTS AND METHODS: Observational study of effectiveness (clinical and radiological) and safety of rituximab in RRMS and PMS. RESULTS: A total of 90 rituximab-treated patients were collected: 31 RRMS and 59 PMS All patients had an active disease despite standard treatment...
May 21, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29785467/impact-of-a-safe-resident-handling-program-in-nursing-homes-on-return-to-work-and-re-injury-outcomes-following-work-injury
#12
Alicia Kurowski, Glenn Pransky, Laura Punnett
Purpose This study examined the impact of a Safe Resident Handling Program (SRHP) on length of disability and re-injury, following work-related injuries of nursing home workers. Resident handling-related injuries and back injuries were of particular interest. Methods A large national nursing home corporation introduced a SRHP followed by three years of training for 136 centers. Lost-time workers' compensation claims (3 years pre-SRHP and 6 years post-SRHP) were evaluated. For each claim, length of first episode of disability and recurrence of disabling injury were evaluated over time...
May 21, 2018: Journal of Occupational Rehabilitation
https://www.readbyqxmd.com/read/29785228/evaluating-the-utility-of-a-structured-clinical-protocol-for-reducing-the-impact-of-behavioural-and-psychological-symptoms-of-dementia-in-progressive-neurological-diseases-a-pilot-study
#13
Nicholas P Ryan, Laura Scott, Maryanne McPhee, Susan Mathers, Marie-Claire Davis, Roxanne Maule, Fiona Fisher
Objectives: Behavioural and psychological symptoms of dementia (BPSD) cause significant distress to both aged care residents and staff. Despite the high prevalence of BPSD in progressive neurological diseases (PNDs) such as multiple sclerosis, Huntington's disease, and Parkinson's disease, the utility of a structured clinical protocol for reducing BPSD has not been systematically evaluated in PND populations. Method: Staff ( n = 51) and individuals with a diagnosis of PND ( n = 13) were recruited into the study, which aimed to evaluate the efficacy of a PND-specific structured clinical protocol for reducing the impact of BPSD in residential aged care (RAC) and specialist disability accommodation (SDA) facilities...
2018: Behavioural Neurology
https://www.readbyqxmd.com/read/29785134/the-impact-of-acne-and-facial-post-inflammatory-hyperpigmentation-on-quality-of-life-and-self-esteem-of-newly-admitted-nigerian-undergraduates
#14
Adeolu Oladayo Akinboro, Ogochukwu Ifeanyi Ezejiofor, Fatai Olatunde Olanrewaju, Mufutau Muphy Oripelaye, Olatunde Peter Olabode, Olugbenga Edward Ayodele, Emmanuel Olaniyi Onayemi
Background: Acne and facial post-inflammatory hyperpigmentation are relatively common clinical conditions among adolescents and young adults, and inflict psychosocial injuries on sufferers. Objective: To document the psychosocial and self-esteem implications of acne and facial hyperpigmentation on newly admitted undergraduates. Materials and methods: A cross-sectional survey was conducted among 200 undergraduates. Demographics and clinical characteristics were obtained and acne was graded using the US Food and Drug Administration 5-category global system of acne classification...
2018: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/29785062/outcomes-of-hypoxic-respiratory-failure-at-birth-associated-with-previable-rupture-of-membranes
#15
Michelle Baczynski, Shannon Ginty, Dany Weisz, Patrick J McNamara, Edmond Kelly, Prakesh S Shah, Amish Jain
OBJECTIVE: To characterize clinical outcomes of infants born after previable rupture of membranes (pROM, < 23 weeks gestation and latency period ≥ 2 weeks) in relation to refractory hypoxic respiratory failure (rHRF). STUDY DESIGN: pROM neonates categorized as rHRF (FiO2  > 0.6 for ≥ 2 h) and treated (high frequency ventilation + inhaled nitric oxide) were compared with no rHRF group. Primary outcome was survival until discharge. Factors associated with rHRF and mortality were identified...
May 22, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29785027/targeting-g-quadruplex-dna-as-cognitive-function-therapy-for-atr-x-syndrome
#16
Norifumi Shioda, Yasushi Yabuki, Kouya Yamaguchi, Misaki Onozato, Yue Li, Kenji Kurosawa, Hideyuki Tanabe, Nobuhiko Okamoto, Takumi Era, Hiroshi Sugiyama, Takahito Wada, Kohji Fukunaga
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by mutations in ATRX, which encodes a chromatin-remodeling protein. Genome-wide analyses in mouse and human cells indicate that ATRX tends to bind to G-rich sequences with a high potential to form G-quadruplexes. Here, we report that Atrx mutation induces aberrant upregulation of Xlr3b expression in the mouse brain, an outcome associated with neuronal pathogenesis displayed by ATR-X model mice. We show that ATRX normally binds to G-quadruplexes in CpG islands of the imprinted Xlr3b gene, regulating its expression by recruiting DNA methyltransferases...
May 21, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29784996/dual-function-injectable-angiogenic-biomaterial-for-the-repair-of-brain-tissue-following-stroke
#17
Lina R Nih, Shiva Gojgini, S Thomas Carmichael, Tatiana Segura
Stroke is the primary cause of disability due to the brain's limited ability to regenerate damaged tissue. After stroke, an increased inflammatory and immune response coupled with severely limited angiogenesis and neuronal growth results in a stroke cavity devoid of normal brain tissue. In the adult, therapeutic angiogenic materials have been used to repair ischaemic tissues through the formation of vascular networks. However, whether a therapeutic angiogenic material can regenerate brain tissue and promote neural repair is poorly understood...
May 21, 2018: Nature Materials
https://www.readbyqxmd.com/read/29784657/autism-spectrum-disorder-advances-in-diagnosis-and-evaluation
#18
REVIEW
Lonnie Zwaigenbaum, Melanie Penner
Autism spectrum disorder (ASD) has a variety of causes, and its clinical expression is generally associated with substantial disability throughout the lifespan. Recent advances have led to earlier diagnosis, and deep phenotyping efforts focused on high risk infants have helped advance the characterization of early behavioral trajectories. Moreover, biomarkers that measure early structural and functional connectivity, visual orienting, and other biological processes have shown promise in detecting the risk of autism spectrum disorder even before the emergence of overt behavioral symptoms...
May 21, 2018: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29784641/intrinsic-apoptosis-circumvents-the-functional-decline-of-circulating-platelets-but-does-not-cause-the-storage-lesion
#19
Irina Pleines, Marion Lebois, Pradnya Gangatirkar, Amanda E Au, Rachael M Lane, Katya J Henley, Maria Kauppi, Jason Corbin, Ping Cannon, Jonathan Bernardini, Imala Alwis, Kate E Jarman, Sarah Ellis, Donald Metcalf, Shaun P Jackson, Simone M Schoenwaelder, Benjamin T Kile, Emma C Josefsson
The circulating life span of blood platelets is regulated by the pro-survival protein BCL-XL. It restrains the activity of BAK and BAX, the essential pro-death mediators of intrinsic apoptosis. Disabling the platelet intrinsic apoptotic pathway in mice by deleting BAK and BAX results in a doubling of platelet life span and concomitant thrombocytosis. Apoptotic platelets expose phosphatidylserine (PS) via a mechanism that is distinct from that driven by classical agonists. Whether there is any role for apoptotic PS in platelet function in vivo, however, is unclear...
May 21, 2018: Blood
https://www.readbyqxmd.com/read/29784605/code-seq-an-augmented-whole-exome-sequencing-enables-the-accurate-detection-of-cnvs-and-mutations-in-mendelian-obesity-and-intellectual-disability
#20
Louise Montagne, Mehdi Derhourhi, Amélie Piton, Bénédicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, Dorothée Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, Amélie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-François Zagury, Mélanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Froguel, Amélie Bonnefond
OBJECTIVE: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both copy number variations (CNVs) and point mutations, is crucial for an optimal care of the patients and genetic counseling for their families. Whole-exome sequencing (WES) has benefited considerably this molecular diagnosis, but its poor ability to detect CNVs remains a major limitation. We aimed to develop a method (CoDE-seq) enabling the accurate detection of both CNVs and point mutations in one step...
May 16, 2018: Molecular Metabolism
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