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Xing Chen, Detlef Wolf, Juliane Siebourg-Polster, Christian Czech, Ulrike Bonati, Dirk Fischer, Omar Khwaja, Martin Strahm
Progressive and irreversible muscle atrophy characterizes Spinal Muscular Atrophy (SMA) and other similar muscle disorder diseases. Objective assessment of muscle functions is an essential and important, although challenging, prerequisite for successful clinical trials. Current clinical rating scales restrain the movement abnormalities to certain predefined coarse-grained individual items. The Kinect 3-D sensor has emerged as a low-cost and portable motion sensing technology used to capture and track people's movement in many medical and research fields...
February 12, 2018: Journal of Visualized Experiments: JoVE
S Palacios, R E Nappi, N Bruyniks, M Particco, N Panay
OBJECTIVES: The primary objective of the European Vulvovaginal Epidemiological Survey (EVES) was to assess, at a country level, the prevalence of postmenopausal women with vulvovaginal atrophy (VVA) confirmed by gynecological clinical assessment among all postmenopausal women attending menopause centers. METHOD: Women aged 45-75 years old with their last menstrual period more than 12 months before and who attended menopause or gynecology centers were included...
March 19, 2018: Climacteric: the Journal of the International Menopause Society
Grace M Wang, Daniel Thuente, Brenda L Bohnsack
Purpose: Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Observations: Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye...
June 2018: American Journal of Ophthalmology Case Reports
Aziza Alrafiah, Evangelia Karyka, Ian Coldicott, Kayleigh Iremonger, Katherin E Lewis, Ke Ning, Mimoun Azzouz
Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease. SMA is caused by mutations in the survival motor neuron gene ( SMN1 ), leading to reduced levels of SMN protein in the CNS. The actin-binding protein plastin 3 (PLS3) has been reported as a modifier for SMA, making it a potential therapeutic target. Here, we show reduced levels of PLS3 protein in the brain and spinal cord of a mouse model of SMA. Our study also revealed that lentiviral-mediated PLS3 expression restored axonal length in cultured Smn-deficient motor neurons...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
Hamzah Mustak, Danica Fiaschetti, Adit Gupta, Robert Goldberg
Background: The eyebrow region presents challenges for filling: the skin is thick, the three-dimensional anatomy is complex and there is a predisposition towards fat atrophy and skeletonization with aging. Hyaluronic acid gel fillers are well known for their use in the periorbital region. We report our long-term experience with eyebrow filling over a period of five years. Methods: Twenty cases of periorbital eyebrow filling with hyaluronic acid gel fillers were followed up over a period of five years. The eyebrow filling was customized based on the patient's anatomical features in a three-dimensional plane...
February 2018: Journal of Clinical and Aesthetic Dermatology
Mathieu Verdurand, Elise Levigoureux, Sophie Lancelot, Waël Zeinyeh, Thierry Billard, Isabelle Quadrio, Armand Perret-Liaudet, Luc Zimmer, Fabien Chauveau
The accumulation of aggregated alpha-synuclein ( α -syn) in multiple brain regions is a neuropathological hallmark of synucleinopathies. Multiple system atrophy (MSA) is a synucleinopathy characterized by the predominant cerebral accumulation of aggregated α -syn as cytoplasmic glial inclusions (CGI). A premortem diagnosis tool would improve early diagnosis and help monitoring disease progression and therapeutic efficacy. One Positron Emission Tomography (PET) study suggested [11 C]BF-227 as a promising radiotracer for monitoring intracellular α -syn deposition in MSA patients...
2018: Contrast Media & Molecular Imaging
Sujun Sun, Haiyu Ji, Yingying Feng, Yu Kang, Juan Yu, Anjun Liu
Background: Thymic atrophy was discovered in tumor-bearing mice in recent years. Methods: Flow cytometry was carried out including Annexin V-FITC/PI double staining, PI staining, Terminal dUTP nick-end labeling, CD3-FITC/CD19-PE and CD8-FITC/CD4-PE double staining. Enzyme-linked immunosorbent assay and polymerase chain reaction were also investigated. Results: According to our experiments, we demonstrated that no signs of apoptosis in thymocytes were found in H22-bearing mice, while the proportions of CD4+ T cells and CD8+ T cells in thymuses were remarkably increased, the opposite tendency was found in peripheral bloods, and only CD3+ CD8+ T cells were discovered in H22 solid tumors...
2018: Cancer Management and Research
Arash Mansourian, Shamsoulmolouk Najafi, Nazila Nojoumi, Parisa Parhami, Mahdieh-Sadat Moosavi
Patients with oral lichen planus (OLP) may develop immune sialadenitis that causes a dry mouth. The role of cortisol in autoimmune diseases is well known; yet studies on this subject are controversial. In this study, the salivary flow rate and salivary cortisol level were compared among subtypes of OLP. This study involved three groups of patients: (1) 11 with reticular OLP, (2) 20 with atrophic-erosive OLP, and (3) 30 with no apparent oral lesion. The salivary flow rate in the control group was significantly higher than in OLP patients...
2018: Skinmed
Russell Ouellette, Åsa Bergendal, Sara Shams, Juha Martola, Caterina Mainero, Maria Kristoffersen Wiberg, Sten Fredrikson, Tobias Granberg
OBJECTIVE: To investigate the long-term progression of cognitive dysfunction and its neuroanatomical correlates and predictors in multiple sclerosis (MS). METHODS: A cohort of 37 MS patients reflecting five decades of disease duration and all subtypes was followed over 17.5 years. Matched controls were recruited at the last follow-up. Global cognitive functioning was assessed using a principal component cognitive index based on comprehensive neuropsychological testing...
March 6, 2018: Multiple Sclerosis and related Disorders
Hanh T M Phan, Jason C Bartz, Jacob Ayers, Benoit I Giasson, Mathias Schubert, Keith B Rodenhausen, Negin Kananizadeh, Yusong Li, Shannon L Bartelt-Hunt
The assembly and accumulation of α-synuclein fibrils are implicated in the development of several neurodegenerative disorders including multiple system atrophy and Parkinson's disease. Pre-existing α-synuclein fibrils can recruit and convert soluble non-fibrillar α-synuclein to the fibrillar form similar to what is observed in prion diseases. This raises concerns regarding attachment of fibrillary α-synuclein to medical instruments and subsequent exposure of patients to α-synuclein similar to what has been observed in iatrogenic transmission of prions...
March 9, 2018: Colloids and Surfaces. B, Biointerfaces
Jinpeng Li, Megumi Kanasaki, Ling Xu, Munehiro Kitada, Kenji Nagao, Yusuke Adachi, Hiroko Jinzu, Yasushi Noguchi, Miyuki Kohno, Keizo Kanasaki, Daisuke Koya
Muscle biology is important topic in diabetes research. We have reported that a diet with ketogenic amino acids rich replacement (KAAR) ameliorated high-fat diet (HFD)-induced hepatosteatosis via activation of the autophagy system. Here, we found that a KAAR ameliorated the mitochondrial morphological alterations and associated mitochondrial dysfunction induced by an HFD through induction of the AKT/4EBP1 and autophagy signaling pathways in both fast and slow muscles. The mice were fed with a standard HFD (30% fat in food) or an HFD with KAAR (HFDKAAR )...
March 14, 2018: Biochimica et Biophysica Acta
Rumiko Takayama, Katsumi Imai, Hiroko Ikeda, Koichi Baba, Naotaka Usui, Yukitoshi Takahashi, Yushi Inoue
We describe two cases of refractory epilepsy with cerebral hemiatrophy and contralateral electroencephalographic (EEG) abnormalities, in which hemispherotomy of the atrophic hemisphere effectively controlled seizures. Case 1 was a 5-year-1-month-old girl with refractory bilateral asymmetrical tonic posturing seizures predominantly in the right arm. Magnetic resonance imaging showed left porencephaly corresponding to a left middle cerebral artery infarction. Case 2 was a 3-year-8-month-old boy with refractory bilateral asymmetrical tonic posturing seizures predominantly in the right arm due to atrophy of the left cerebral hemisphere after septic meningitis...
March 14, 2018: Brain & Development
Martha Kim, Ho-Kyung Choung, Kyoung Min Lee, Sohee Oh, Seok Hwan Kim
PURPOSE: To delineate longitudinal changes in the optic nerve head (ONH) and peripapillary structure during myopia progression in childhood using spectral-domain (SD) OCT and to explore the factors associated with myopic ONH and peripapillary changes. DESIGN: Prospective cohort study. PARTICIPANTS: Twenty-three healthy children with myopia (46 eyes). METHODS: The participants underwent fundus photography, SD OCT, and axial length (AXL) measurements every 6 months for 2 years...
March 14, 2018: Ophthalmology
Min Li, Jia Liu, Huan Yi, Li Xu, Xiufeng Zhong, Fuhua Peng
BACKGROUND: Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies. CASE PRESENTATION: Here we report a 11-year-old Chinese boy who presented with visual loss, was suspected with optic neuritis (ON) or neuromyelitis optica (NMO) and referred to our department for further diagnosis...
March 17, 2018: BMC Pediatrics
Reinaldo Uribe-San-Martín, Ethel Ciampi, Roberta Di Giacomo, Macarena Vásquez, Claudia Cárcamo, Jaime Godoy, Giorgio Lo Russo, Laura Tassi
OBJECTIVE: Our aim in this retrospective study was to explore whether corpus callosum atrophy could predict the post-surgical seizure control in patients with temporal lobe epilepsy associated with Hippocampal Sclerosis (HS). METHODS: We used the Corpus Callosum Index (CCI) obtained from best mid-sagittal T2/FLAIR or T1-weighted MRI at two time-points, more than one year apart. CCI has been mainly used in Multiple Sclerosis (MS), but not in epilepsy, so we tested the validity of our results performing a proof of concept cohort, incorporating MS patients with and without epilepsy...
March 3, 2018: Epilepsy Research
Efrat Fleissig, Mor Pavlovksy, Anat Loewenstein, Dinah Zur, Hadas Newman, Shay Keren, Dafna Goldenberg, Efrat Bar-Ilan, Michaella Goldstein
PURPOSE: To investigate ocular manifestations in patients with vitiligo by multimodal imaging, including optical coherence tomography (OCT), color fundus photography, and fundus autofluorescence (FAF). METHODS: In this prospective, observational clinical study, vitiligo patients underwent ophthalmologic and dermatologic clinical assessment and imaging by spectral-domain OCT, FAF, and color fundus imaging. Ocular echography was performed as indicated. Statistical analysis was performed using paired T test and Pearson correlation...
March 16, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Michelle A Farrar, Hooi Ling Teoh, Kate A Carey, Anita Cairns, Robin Forbes, Karen Herbert, Sandra Holland, Kristi J Jones, Manoj P Menezes, Margot Morrison, Kate Munro, Daniella Villano, Richard Webster, Ian R Woodcock, Eppie M Yiu, Hugo Sampaio, Monique M Ryan
BACKGROUND: Spinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EAP) to enable preapproval access to nusinersen, the first disease-modifying therapy, for SMA type 1. METHODS: An Australian multicentre, open-label EAP for nusinersen enrolled patients with infantile-onset SMA type 1 from November 2016 to September 2017...
March 16, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
Mahsa Dadar, Vladimir S Fonov, D Louis Collins
INTRODUCTION: Linear registration to a standard space is one of the major steps in processing and analyzing magnetic resonance images (MRIs) of the brain. Here we present an overview of linear stereotaxic MRI registration and compare the performance of 5 publicly available and extensively used linear registration techniques in medical image analysis. METHODS: A set of 9693 T1-weighted MR images were obtained for testing from 4 datasets: ADNI, PREVENT-AD, PPMI, and HCP, two of which have multi-center and multi-scanner data and three of which have longitudinal data...
March 13, 2018: NeuroImage
Ana Isabel Padrão, Rita Nogueira-Ferreira, Rui Vitorino, Dulce Carvalho, Catarina Correia, Maria João Neuparth, Maria João Pires, Ana Isabel Faustino-Rocha, Lúcio Lara Santos, Paula Alexandra Oliveira, José Alberto Duarte, Daniel Moreira-Gonçalves, Rita Ferreira
Limiting cancer-induced cardiac damage has become an increasingly important issue to improve survival rates and quality of life. Exercise training has been shown to reduce cardiovascular complications in several diseases; however, its therapeutic role against cardiovascular consequences of cancer is in its infancy. In order to add new insights on the potential therapeutic effect of exercise training on cancer-related cardiac dysfunction, we used an animal model of urothelial carcinoma submitted to 13 weeks of treadmill exercise after 20 weeks of exposure to the carcinogenic N-butyl-N-(4-hydroxybutyl)-nitrosamine (BBN)...
March 13, 2018: Archives of Biochemistry and Biophysics
Davis C Woodworth, Langston T Holly, Emeran A Mayer, Noriko Salamon, Benjamin M Ellingson
BACKGROUND: Advanced cervical spondylosis (CS) can cause structural damage to the spinal cord resulting in long-term neurological impairment including neck pain and motor weakness. We hypothesized long-term structural reorganization within the brain in patients with CS. OBJECTIVE: To explore the associations between cortical thickness, subcortical volumes, neurological symptoms, and pain severity in CS patients with or without myelopathy and healthy controls (HCs)...
March 14, 2018: Neurosurgery
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