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https://www.readbyqxmd.com/read/27922243/late-diagnosed-phenylketonuria-in-an-eight-year-old-boy-with-dyslexia-and-attention-deficit-hyperactivity-disorder
#1
Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri
Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922231/evaluation-of-central-nervous-system-in-patients-with-glycogen-storage-disease-type-1a
#2
Yusuf Aydemir, Figen Gürakan, İnci Nur Saltık Temizel, Hülya Demir, Kader Karlı Oğuz, Dilek Yalnızoğlu, Meral Topçu, Hasan Özen, Aysel Yüce
We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and poor metabolic control and healthy children. Twenty-three patients with GSD type 1a were studied. Twelve patients were in poor metabolic control group and 11 patients in good metabolic control group...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27921436/-diabetes-mellitus-in-older-adults-from-the-point-of-view-of-the-clinical-diabetologist
#3
Alena Šmahelová
Disorders of glucose homeostasis affect quite a large part of the older population and their incidence including manifest diabetes is growing. Diabetes in older adults is associated with an increased risk of geriatric syndrome expressed in various ways (decrease in muscle size, functional disability, frailty) and early mortality. Diabetes care for the elderly requires, also in view of heterogeneity of diabetes itself, an individual specific approach. This involves not only diagnostics and a clinical picture, but also the treatment goals and the therapy of diabetes and complications in itself...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921410/downregulation-of-immunosuppressive-molecules-pd-1-and-pd-l1-but-not-pd-l2-in-the-patients-with-multiple-sclerosis
#4
Mohammad Reza Javan, Saeed Aslani, Mohammad Reza Zamani, Javad Rostamnejad, Milad Asadi, Mahdi Farhoodi, Mohammad Hossein Nicknam
Programmed cell death-1 (PD-1) and its ligands, PD-L1 and PD-L2, have been regarded as important immune system regulatory molecules. The aberrant expression of the molecules has been related to several autoimmune disorders. This study is aimed to assess the mRNA expression level of PD-1, PD-L1, and PD-L2 molecules in the peripheral blood mononuclear mells (PBMCs) from multiple sclerosis (MS) patients. PBMCs were isolated from the whole blood of 50 MS and 50 healthy individuals. Total RNA content of the leukocytes was extracted...
August 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27921408/evaluation-of-apoptosis-in-the-lung-tissue-of-sulfur-mustard-exposed-individuals
#5
Marjan Mosayebzadeh, Tooba Ghazanfari, Alireza Delshad, Hassan Akbari
Lung exposure to sulfur mustard (SM) results in pulmonary complications, which is the main cause of long-term disability and morbidity. Up to now, the precise mechanisms of SM-induced lung complications has not been identified. The aim of this study was to evaluate apoptosis in the lung tissue of SM-exposed individuals. The study was performed on archived lung paraffin-embedded tissue specimens of21 patients suffering from pulmonary complications due to previous SM exposure and 9 unexposed patients who had undergone lung resections for another lung disease...
August 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27921324/statins-and-mortality-the-untold-story
#6
Michael S Kostapanos, Moses S Elisaf
Statins are first-line evidence-based drugs for the management of dyslipidaemias and to reduce the risk of cardiovascular events. However, statin clinical trials have shown marginally significant benefits on mortality, especially in the primary prevention setting. A major limitation of those trials is their relatively short follow-up. A reduced number of fatal events within a 5-year follow-up make mortality benefits unlikely to arise. This is particularly relevant for the primary prevention trials, whereby the risk of cardiovascular death is low...
December 6, 2016: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27921221/safety-and-efficacy-of-natalizumab-in-japanese-patients-with-relapsing-remitting-multiple-sclerosis-open-label-extension-study-of-a-phase-2-trial
#7
Takahiko Saida, Jun-Ichi Kira, Shuji Kishida, Takashi Yamamura, Nobuhisa Ohtsuka, Yan Ling, Shinichi Torii, Nisha Lucas, Geoffrey Kuesters, Deb Steiner, J T Tibung
INTRODUCTION: The efficacy of natalizumab was evaluated in Japanese patients with relapsing-remitting multiple sclerosis (RRMS) in a 24-week, phase 2 bridging study. An open-label, 2-year extension study from this trial was conducted to assess the safety and efficacy of natalizumab treatment in Japanese patients. METHODS: A total of 97 patients (43 previously on placebo; 54 previously on natalizumab) who had completed the bridging study were treated with 300 mg natalizumab every 4 weeks...
December 5, 2016: Neurology and Therapy
https://www.readbyqxmd.com/read/27921129/-shoulder-endoprosthesis-in-the-elderly-hemiarthroplasty-or-total-shoulder-arthroplasty-anatomic-or-reverse
#8
J Kircher
Implantation of reverse shoulder endoprostheses is becoming more popular for elderly patients besides the well-established standard anatomic endoprostheses. The reasons for this are the increased life expectancy, age-dependent degeneration of the rotator cuff leading to cuff tear arthropathy, posttraumatic disability after failed osteosynthesis and primary reverse fracture arthroplasty. Stemless implants are more frequently used for primary osteoarthritis with the bone quality being the limiting factor. Modern implant systems allow the stepwise extension from bone preserving primary implants to modular and convertible revision implants that allow a partial exchange of components...
December 5, 2016: Der Orthopäde
https://www.readbyqxmd.com/read/27920970/a-review-and-treatment-selection-model-for-individuals-with-developmental-disabilities-who-engage-in-inappropriate-sexual-behavior
#9
Tonya N Davis, Wendy Machalicek, Rachel Scalzo, Alicia Kobylecky, Vincent Campbell, Sarah Pinkelman, Jeffrey Michael Chan, Jeff Sigafoos
Some individuals with developmental disabilities develop inappropriate sexual behaviors such as public masturbation, disrobing, and touching others in an unwanted sexual manner. Such acts are problematic given the taboo nature of the behaviors and the potential for significant negative consequences, such as restricted community access, injury, and legal ramifications. Therefore, it is necessary to equip caregivers and practitioners with effective treatment options. The purpose of this paper is to review studies that have evaluated behavioral treatments to reduce inappropriate sexual behavior in persons with developmental disabilities...
December 2016: Behavior Analysis in Practice
https://www.readbyqxmd.com/read/27920745/mother-child-play-a-comparison-of-autism-spectrum-disorder-down-syndrome-and-typical-development
#10
Arianna Bentenuto, Simona De Falco, Paola Venuti
The purpose of the present study was to analyze mother-child collaborative play in children with Autism Spectrum Disorders (ASD) compared to children with Down Syndrome (DS) and typical developing children (TD). Children with ASD are often described as having deficient play skills, particularly in the symbolic domain. Caregivers' involvement in child play activities increases the structural complexity of playing in both typically developing children and children with disabilities. Participants included 75 mothers and their children with ASD (n = 25), with down syndrome (n = 25) and with typical development (n = 25)...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#11
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920637/endocrinological-abnormalities-are-a-main-feature-of-17p13-1-microduplication-syndrome-a-new-case-and-literature-review
#12
Ilenia Maini, Ivan Ivanovski, Alessandro Iodice, Simonetta Rosato, Marzia Pollazzon, Manuela Mussini, Elga F Belligni, Charles Coutton, Maria Marinelli, Veronica Barbieri, Manuela Napoli, Rosario Pascarella, Chiara Sartori, Francesca Madia, Carlo Fusco, Fabrizia Franchi, Maria E Street, Livia Garavelli
To date, 5 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability was reported as the core feature, together with minor facial dysmorphisms and obesity, but a characteristic phenotype for 17p13.1 microduplication has not been delineated. Here, we describe a patient with a 1.56-Mb de novo duplication in 17p13.1, affected by mild intellectual disability, facial dysmorphisms, obesity, and diabetes. By comparing the different phenotypes of currently described cases, we delineated the main clinical features of 17p13...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920633/lesch-nyhan-syndrome-models-theories-and-therapies
#13
REVIEW
Scott Bell, Ilaria Kolobova, Liam Crapper, Carl Ernst
Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920590/a-comparison-of-the-oxford-shoulder-score-and-shoulder-pain-and-disability-index-factor-structure-in-the-context-of-a-large-randomized-controlled-trial
#14
Jill Dawson, Kristina K Harris, Helen Doll, Ray Fitzpatrick, Andrew Carr
BACKGROUND: To explore and compare the factor structure of the 12-item Oxford shoulder score (OSS) and 13-item shoulder pain and disability index (SPADI). METHODS: Exploratory factor analysis (EFA) and confirmatory factor analysis (CFA) of data from 660 patients attending 46 hospitals in the UK. Complete OSS and SPADI data were available for 648 (98.2%) and 628 (95.2%) participants, respectively. RESULTS: For both instruments, either one or two factors were indicated, depending on the extraction method...
2016: Patient related Outcome Measures
https://www.readbyqxmd.com/read/27920575/an-individually-tailored-behavioral-medicine-treatment-in-physical-therapy-for-tension-type-headache-two-experimental-case-studies
#15
Anne Söderlund, Helena Lagerlöf
AIM: The aim of this study was to describe and evaluate the effect of an individually tailored behavioral medicine treatment in physical therapy, based on a functional behavioral analysis (FBA), for tension-type headache (TTH). PATIENTS AND METHODS: Two case studies with A1-A2-B-A3 design of two patients with TTH was conducted. Outcome variables were headache frequency, headache index (mean intensity), consumption of analgesics, self-efficacy in headache management (Headache Management Self-efficacy Scale [HMSE]), disability, and perceived loss of happiness for activities with family and friends...
2016: Journal of Pain Research
https://www.readbyqxmd.com/read/27920537/factors-related-to-depression-and-anxiety-in-adults-with-bronchiectasis
#16
Elif Yelda Özgün Niksarlioglu, Gülcihan Özkan, Gülşah Günlüoğlu, Mehmet Atilla Uysal, Sule Gül, Lütfiye Kilic, Ayse Yeter, Güngör Çamsarı
INTRODUCTION AND BACKGROUND: Patients with chronic lung diseases frequently have depressive and anxiety symptoms, but there are very few studies looking at this in patients with bronchiectasis. AIM: This study aimed to investigate depression and anxiety and related factors among patients with non-cystic fibrosis bronchiectasis. PATIENTS AND METHODS: This was a prospective study of 133 patients with bronchiectasis. Patients with confirmed diagnosis of bronchiectasis with high-resolution computed tomography were enrolled in the study...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27920410/a-novel-splice-site-mutation-in-the-aspm-gene-underlies-autosomal-recessive-primary-microcephaly
#17
Jamil A Hashmi, Khalid M Al-Harbi, Khushnooda Ramzan, Alia M Albalawi, Amir Mehmood, Mohammed I Samman, Sulman Basit
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. Patients with MCPH exhibit reduced occipito-frontal head circumference and non-progressive intellectual disability. To date, 17 genes have been known as an underlying cause of MCPH in humans. ASPM (abnormal spindle-like, microcephaly associated) is the most commonly mutated MCPH gene. OBJECTIVE: Identify the genetic defect underlying MCPH in a Saudi family...
November 2016: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/27920311/school-based-dental-sealant-programs-prevent-cavities-and-are-cost-effective
#18
Susan Griffin, Shillpa Naavaal, Christina Scherrer, Paul M Griffin, Kate Harris, Sajal Chattopadhyay
Untreated cavities can have far-reaching negative consequences for people's ability to eat, speak, and learn. By adolescence, 27 percent of low-income children in the United States will have untreated cavities. School-based sealant programs typically provide dental sealants (a protective coating that adheres to the surface of molars) at little or no cost to students attending schools in areas with low socioeconomic status. These programs have been shown to increase the number of students receiving sealants and to prevent cavities...
December 1, 2016: Health Affairs
https://www.readbyqxmd.com/read/27920283/what-can-we-do-for-people-with-drug-resistant-epilepsy-the-2016-wartenberg-lecture
#19
Jerome Engel
Treatment goals for epilepsy are no seizures, no side effects, as soon as possible, but these goals are too often unmet. Approximately 1 million people in the United States continue to have seizures despite adequate treatment with antiseizure drugs, representing 40% of those with epilepsy, and 80% of the cost of epilepsy. Drug-resistant epilepsy (DRE) can be associated with developmental delay in infants and young children, and severe disability and morbidity in older children and adults, as well as a mortality rate 5-10 times that of the general population...
December 6, 2016: Neurology
https://www.readbyqxmd.com/read/27920085/quality-of-prescribing-of-antipsychotic-medication-for-people-with-intellectual-disability-under-the-care-of-uk-mental-health-services-a-cross-sectional-audit-of-clinical-practice
#20
Carol Paton, Sumera Bhatti, Kiran Purandare, Ashok Roy, Tre Barnes
OBJECTIVES: To determine the prevalence and quality of antipsychotic prescribing for people with intellectual disability (ID). DESIGN: A clinical audit of prescribing practice in the context of a quality improvement programme. Practice standards for audit were derived from relevant, evidence-based guidelines, including NICE. Data were mainly collected from the clinical records, but to determine the clinical rationale for using antipsychotic medication in individual cases, prescribers could also be directly questioned...
December 5, 2016: BMJ Open
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