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Eleonora Palagano, Giulia Zuccarini, Paolo Prontera, Renato Borgatti, Gabriela Stangoni, Sandro Elisei, Stefano Mantero, Ciro Menale, Antonella Forlino, Paolo Uva, Manuela Oppo, Paolo Vezzoni, Anna Villa, Giorgio R Merlo, Cristina Sobacchi
Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, short stature and intellectual disability. We analyzed an Indian family with two affected siblings by exome sequencing and identified a novel homozygous truncating mutation in the Neuroblastoma-Amplified Sequence (NBAS) gene in the patients' genome. Mutations in the NBAS gene have recently been associated with different phenotypes mainly involving skeletal formation, liver and cognitive development...
June 18, 2018: Bone
Nibardo Lopez Rios, Alexandru Foias, Gregory Lodygensky, Mathieu Dehaes, Julien Cohen-Adad
Neonatal brain injury suffered by preterm infants and newborns with some medical conditions can cause significant neurodevelopmental disabilities. MRI is a preferred method to detect these accidents and perform in vivo evaluation of the brain. However, the commercial availability and optimality of receive coils for the neonatal brain is limited, which in many cases leads to images lacking in quality. As extensively demonstrated, receive arrays closely positioned around the scanned part provide images with high signal-to-noise ratios (SNRs)...
June 21, 2018: NMR in Biomedicine
Stacey J Ellery, Meredith Kelleher, Peta Grigsby, Irina Burd, Jan B Derks, Jon Hirst, Suzanne L Miller, Larry S Sherman, Mary Tolcos, David Walker
No abstract text is available yet for this article.
June 21, 2018: Journal of Physiology
Keir X X Yong, Ian D McCarthy, Teresa Poole, Tatsuto Suzuki, Biao Yang, Amelia M Carton, Catherine Holloway, Nikolaos Papadosifos, Derrick Boampong, Julia Langham, Catherine F Slattery, Ross W Paterson, Alexander J M Foulkes, Jonathan M Schott, Chris Frost, Nick Tyler, Sebastian J Crutch
Objective: Deficits in spatial navigation are characteristic and disabling features of typical Alzheimer's disease (tAD) and posterior cortical atrophy (PCA). Visual cues have been proposed to mitigate such deficits; however, there is currently little empirical evidence for their use. Methods: The effect of visual cues on visually guided navigation was assessed within a simplified real-world setting in individuals with tAD ( n  = 10), PCA ( n  = 8), and healthy controls ( n  = 12)...
June 2018: Annals of Clinical and Translational Neurology
Ai-Min Wu, Kai Zhang, Xun-Lin Li, Xiao-Fei Cheng, Tang-Jun Zhou, Lin Du, Chen Chen, Hai-Jun Tian, Xiao-Jiang Sun, Chang-Qing Zhao, Yan Michael Li, Jie Zhao
Background: The L5 nerve root could be compressed at both L4-5 and L5-S1 regions. If L5 nerve root has confirmed compression at L4-5 level and questionable compression at L5-S1 foramina, performing both surgeries at L4-5 and L5-S1 levels may induce unnecessary extra surgery on L5-S1; however, ignoring foraminal stenosis of L5/S1 may require re-exploration. Methods: Two hundred seventeen patients with L5 nerve root compressed at L4-5 lateral access were performed with L4-5 decompression and interbody fusion...
May 2018: Quantitative Imaging in Medicine and Surgery
Ashwinikumar Patil, Datta More, Anant Patil, Kishor A Jadhav, Myriam E Vijil Mejia, Suresh S Patil
OBJECTIVE: To examine the clinical pattern of foot-related complications in type 2 diabetes patients. MATERIAL AND METHODS: A cross-sectional study was conducted among indoor, adult type 2 diabetes patients with risk factors for diabetic foot complications. The diabetic neuropathy symptom score (DNSS), Doppler scanning, ankle brachial pressure index (ABPI) assessment, neuropathy assessment, neuropathic disability score (NDS), biothesiometry evaluation, and bacteriological examination was performed...
April 18, 2018: Curēus
Roya Abolfazli, Shirin Pournourmohammadi, Ahmadreza Shamshiri, Sara Samadzadeh
Background: The aim of this study was to evaluate the safety, tolerability, and efficacy of a brand-generic glatiramer acetate product in patients with relapsing-remitting multiple sclerosis over a 12-month period. A noninterventional cohort study was conducted on 185 patients. The patients had a confirmed and documented diagnosis of relapsing-remitting multiple sclerosis as defined by the Revised McDonald Criteria (2010), were ambulatory with a Kurtzke Expanded Disability Status Scale score of 0 to 5...
2018: Current Therapeutic Research, Clinical and Experimental
Litao Yan, Junwei Zong, Jin Chu, Wendong Wang, Mingshu Li, Xianfeng Wang, Mingzhi Song, Shouyu Wang
The calcaneus is a rare location for the occurrence and development of primary tumour types. Clinicians are unfamiliar with calcaneal tumour types, which may result in a delay in diagnosis or a missed diagnosis, resulting in unnecessary morbidity and amputation. Heel pain and localized swelling of the ankle are the most common symptoms. X-ray is the first choice for a tentative diagnosis of a calcaneal tumour. The final diagnosis depends on a histological examination. The treatment of calcaneal tumour types varies depending on the Enneking system...
June 2018: Oncology Letters
Rosa M Vivanco-Hidalgo, Sònia Abilleira, Mercè Salvat-Plana, Aida Ribera, Guillem Gallofré, Miquel Gallofré
Stroke, and mainly ischemic stroke, is the second cause of death and disability. To confront the huge burden of this disease, innovative stroke systems of care are mandatory. This requires the development of national stroke plans to offer the best treatment to all patients eligible for reperfusion therapies. Key elements for success include a high level of organization, close cooperation with emergency medical services for prehospital assessment, an understanding of stroke singularity, the development of preassessment tools, a high level of commitment of all stroke teams at Stroke Centres, the availability of a disease-specific registry, and local government involvement to establish stroke care as a priority...
2018: Frontiers in Neurology
Aneta Szymaszek, Anna Dacewicz, Paulina Urban, Elzbieta Szelag
Many studies revealed a link between temporal information processing (TIP) in a millisecond range and speech perception. Previous studies indicated a dysfunction in TIP accompanied by deficient phonemic hearing in children with specific language impairment (SLI). In this study we concentrate in SLI on phonetic identification, using the voice-onset-time (VOT) phenomenon in which TIP is built-in. VOT is crucial for speech perception, as stop consonants (like /t/ vs. /d/) may be distinguished by an acoustic difference in time between the onsets of the consonant (stop release burst) and the following vibration of vocal folds (voicing)...
2018: Frontiers in Human Neuroscience
Yazed AlRuthia, Bander Balkhi, Marwan Alrasheed, Ahmed Altuwaijri, Mohammad Alarifi, Huda Alzahrani, Wael Mansy
This study aimed to explore the health beliefs and patterns of dietary supplement usage among fitness center members. This cross-sectional study was conducted in four large indoor fitness centers in Riyadh, Saudi Arabia. This study involved male fitness center members aged ≥18 years with no speech or hearing disabilities. In-person interviews were conducted with fitness center members who agreed to participate using a newly developed questionnaire. Information on participants' sociodemographics (e.g., age and education), smoking status, health status, exercise frequency, average time spent exercising, different supplements used, used supplements sources, and health beliefs regarding dietary supplements were obtained...
2018: PloS One
Aïda M Valevicius, Quinn A Boser, Ewen B Lavoie, Glyn S Murgatroyd, Patrick M Pilarski, Craig S Chapman, Albert H Vette, Jacqueline S Hebert
BACKGROUND: Dexterous hand function is crucial for completing activities of daily living (ADLs), which typically require precise hand-object interactions. Kinematic analyses of hand trajectory, hand velocity, and grip aperture provide valuable mechanistic insights into task performance, but there is a need for standardized tasks representative of ADLs that are amenable to motion capture and show consistent performance in non-disabled individuals. Our objective was to develop two standardized functional upper limb tasks and to quantitatively characterize the kinematics of normative hand movement...
2018: PloS One
Rohit Shankar, Charles Rowe, Alje Van Hoorn, William Henley, Richard Laugharne, David Cox, Raj Pande, Ashok Roy, Josemir W Sander
PURPOSE: One quarter of people with epilepsy have an intellectual disability (ID) and one fifth of people with an ID have epilepsy. Both conditions are associated with higher levels of morbidity, stigma and premature mortality. There have been calls for action to promote more research in this group. We examined if this group are represented adequately in current research. METHODS: The proportion of research output in epilepsy conferences and publications relevant to ID and the proportion in ID conferences and publications on epilepsy for 2015-2016 were identified...
2018: PloS One
Jared Ament, Zhuo Yang, Bart Thaci, Edwin Kulubya, Wellington Hsu, Gerrit Bouma, Kee D Kim
STUDY DESIGN: Cost-utility analysis of an annular closure device (ACD) based on data from a prospective, multicenter randomized controlled trial (RCT) OBJECTIVE.: Determine the cost-effectiveness of a novel ACD in a patient population at high risk for recurrent herniation following discectomy SUMMARY OF BACKGROUND DATA.: Lumbar disc herniation patients with annular defect widths ≥ 6 mm are at high risk for recurrent herniation following limited discectomy. Recurrent herniation is associated with worse clinical outcomes and greater healthcare costs...
June 20, 2018: Spine
Ariana Helena Ribeiro de Barros, João Paulo Fiadeiro Sequeira, Ary Severino Lopes de Sousa, Carlos Miguel Cheganças Capela, Rui Manuel Gomes Pedrosa, Manuel Alexandre Dos Santos Manita
OBJECTIVES: The aim of this study was to evaluate postmarketing fingolimod safety and effectiveness in a real-world clinical population. METHODS: This was a retrospective, single-center study with active multiple sclerosis patients treated with fingolimod with at least 12 months of follow-up. Demographic and clinical and imaging characteristics, including annualized relapse rate (ARR), Expanded Disability Status Score, previous treatment, adverse events, treatment duration, and reason for discontinuation, were analyzed...
June 20, 2018: Clinical Neuropharmacology
Luigi Russo, Francesco Craig, Marta Ruggiero, Claudio Mancuso, Rita Galluzzi, Alessandro Lorenzo, Isabella Fanizza, Antonio Trabacca
INTRODUCTION: Recent evidence suggests that impairments in social cognition are associated to the cognitive abilities needed to take several viewpoints in perceptual situations and body awareness. The aim of the current study was to investigate Visual Perspective Taking (VPT) and Body awareness performance in a group of children with Autism Spectrum Disorders (ASD) compared with a group of children with Intellectual Disability (ID) and typically developing (TD) children. METHODS: Our groups were administered an IQ test and a VPT task, and body awareness tests...
June 21, 2018: Cognitive Neuropsychiatry
Maria Sandborgh, Elizabeth Dean, Eva Denison, Maria Elvén, Johanna Fritz, Petra von Heideken Wågert, Johan Moberg, Thomas Overmeer, Åsa Snöljung, Ann-Christin Johansson, Anne Söderlund
In 2004, Mälardalen University, Sweden, introduced a new undergraduate entry-level physiotherapy program. Program developers constructed the curriculum with behavioral medicine content that reflected the contemporary definition and values of the physiotherapy profession aligning it with current best practices, evidence, and the International Classification of Functioning, Disability, and Health (ICF). The new curriculum conceptualized movement and function as modifiable behaviors in that they reflect behavioral contingencies, perceptions, beliefs, and lifestyle factors as well as pathophysiology and environmental factors...
June 21, 2018: Physiotherapy Theory and Practice
Ya A Latyshev, A D Kravchuk, L B Likhterman, N E Zakharova, O S Zaytsev, A G Gavrilov, V A Okhlopkov, A A Potapov
One of the frequent consequences of severe traumatic brain injury is posttraumatic hydrocephalus that not only hampers the processes of consciousness recovery, rehabilitation, and social adaptation of patients but also is the cause of disability. Pathological processes underlying the clinical picture of posttraumatic hydrocephalus and the relationship between CSF circulation disorders and structural changes in the brain substance have not been adequately studied. Of particular importance are patients in the chronic vegetative or minimally conscious state, recovery from which is blocked by posttraumatic hydrocephalus...
2018: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
A P Kovalenko, O V Kamaeva, V K Misikov, Yu R Poleshchuk, M A Koshkarev
The problem-oriented approach in the rehabilitation of patients with spasticity requires careful assessment of the situation in the concept of The International Classification of Functioning, Disability and Health (ICF): impairment of the structure, functions and limitation of activity in specific environmental factors. Standardized tools in the assessment of muscle tone allow to get objective data about motor function. The use of the Modified Ashworth scale (MAS) and the Tardieu Scale are discussed. The standardized assessment of independent mobility is an important issue in outcome measuring...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Orna Fennelly, Catherine Blake, Oliver FitzGerald, Roisin Breen, Cliona O'Sullivan, Marie O'Mir, François Desmeules, Caitriona Cunningham
BACKGROUND: Since 2011, advanced practice physiotherapists (APPs) have triaged the care of patients awaiting orthopaedic and rheumatology consultant/specialist doctor appointments in Ireland. APP services have evolved across the major hospitals (n = 16) and, after 5 years, profiling and evaluation of APP services was warranted. The present study profiled the national musculoskeletal APP services, focusing on service, clinician and patient outcome factors. METHODS: An online survey of physiotherapists in the allocated APP posts (n = 25) explored: service organization; clinician profile and experience of the advanced role; and patient wait times and outcome measures...
June 21, 2018: Musculoskeletal Care
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