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https://www.readbyqxmd.com/read/28813086/translation-and-validation-of-the-life-satisfaction-index-for-adolescents-scale-with-neuromuscular-disorders-lsi-a-brazil
#1
Valdecir Antonio Simon, Edmar Zanoteli, Margarete Andreozzi Vaz Pereira Simon, Maria Bernadete Dutra de Resende, Umbertina Conti Reed
Objective: To validate the Life Satisfaction Index for Adolescents (LSI-A) scale, parent version and patient version, for Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA) and limb-girdle muscular dystrophy (LGMD). Methods: The parent version of the instrument was divided into Groups A, B, C and D; and the patient version, divided into B, C and D. For the statistical calculation, the following tests were used: Cronbach's α, ICC, Pearson and the ROC Curve...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28812043/swallowing-markers-in-spinal-and-bulbar-muscular-atrophy
#2
Haruhiko Banno, Masahisa Katsuno, Keisuke Suzuki, Seiya Tanaka, Noriaki Suga, Atsushi Hashizume, Tomoo Mano, Amane Araki, Hirohisa Watanabe, Yasushi Fujimoto, Masahiko Yamamoto, Gen Sobue
OBJECTIVE: We examined the characteristics of dysphagia in spinal and bulbar muscular atrophy, a hereditary neuromuscular disease causing weakness of limb, facial, and oropharyngeal muscles via a videofluoroscopic swallowing study, and investigated the plausibility of using these outcome measures for quantitative analysis. METHODS: A videofluoroscopic swallowing study was performed on 111 consecutive patients with genetically confirmed spinal and bulbar muscular atrophy and 53 age- and sex-matched healthy controls...
August 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28811488/deregulation-of-zpr1-causes-respiratory-failure-in-spinal-muscular-atrophy
#3
Naresh K Genabai, Annapoorna Kannan, Saif Ahmad, Xiaoting Jiang, Kanchan Bhatia, Laxman Gangwani
Spinal muscular atrophy (SMA) is caused by the low levels of survival motor neuron (SMN) protein and is characterized by motor neuron degeneration and muscle atrophy. Respiratory failure causes death in SMA but the underlying molecular mechanism is unknown. The zinc finger protein ZPR1 interacts with SMN. ZPR1 is down regulated in SMA patients. We report that ZPR1 functions downstream of SMN to regulate HoxA5 levels in phrenic motor neurons that control respiration. Spatiotemporal inactivation of Zpr1 gene in motor neurons down-regulates HoxA5 and causes defects in the function of phrenic motor neurons that results in respiratory failure and perinatal lethality in mice...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28811259/should-i-trust-you-learning-and-memory-of-social-interactions-in-dementia
#4
Stephanie Wong, Muireann Irish, Claire O'Callaghan, Fiona Kumfor, Greg Savage, John R Hodges, Olivier Piguet, Michael Hornberger
Social relevance has an enhancing effect on learning and subsequent memory retrieval. The ability to learn from and remember social interactions may impact on susceptibility to financial exploitation, which is elevated in individuals with dementia. The current study aimed to investigate learning and memory of social interactions, the relationship between performance and financial vulnerability and the neural substrates underpinning performance in 14 Alzheimer's disease (AD) and 20 behavioural-variant frontotemporal dementia (bvFTD) patients and 20 age-matched healthy controls...
August 12, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28810002/retinal-oximetry-discovers-novel-biomarkers-in-retinal-and-brain-diseases
#5
Einar Stefánsson, Olof Birna Olafsdottir, Anna Bryndis Einarsdottir, Thorunn Scheving Eliasdottir, Thor Eysteinsson, Wouter Vehmeijer, Evelien Vandewalle, Toke Bek, Sveinn Hakon Hardarson
Purpose: Biomarkers for several eye and brain diseases are reviewed, where retinal oximetry may help confirm diagnosis or measure severity of disease. These include diabetic retinopathy, central retinal vein occlusion (CRVO), retinitis pigmentosa, glaucoma, and Alzheimer's disease. Methods: Retinal oximetry is based on spectrophotometric fundus imaging and measures oxygen saturation in retinal arterioles and venules in a noninvasive, quick, safe manner. Retinal oximetry detects changes in oxygen metabolism, including those that result from ischemia or atrophy...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28809989/a-comparative-study-to-evaluate-epidermal-barrier-integrity-of-psoriasis-patients-treated-with-calcipotriene-betamethasone-topical-suspension-versus-betamethasone-dipropionate-0-05-lotion
#6
Peter W Hashim, John K Nia, David Terrano, Gary Goldenberg, Leon H Kircik
<p>BACKGROUND: Topical corticosteroids are known to impair the epidermal barrier, even after short-term use, whereas topical vitamin D analogues can have a reparative effect. Combination products using corticosteroids and vitamin D analogues have gained popularity in recent years and may provide a means to minimize skin atrophy in patients treated with topical corticosteroids.</p> <p>OBJECTIVE: To compare epidermal barrier function and cutaneous atrophy after 4 weeks of calcipotriene 0.005% and betamethasone dipropionate 0...
August 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28809518/mir-542-promotes-mitochondrial-dysfunction-and-smad-activity-and-is-raised-in-icu-acquired-weakness
#7
Roser Farre Garros, Richard Paul, Martin Connolly, Amy Lewis, Benjamin E Garfield, S Amanda Natanek, Susannah Bloch, Vincent Mouly, Mark J Griffiths, Michael I Polkey, Paul R Kemp
RATIONALE: Loss of skeletal muscle mass and function is a common consequence of critical illness and a range of chronic diseases but the mechanisms by which this occurs are unclear. OBJECTIVES: We aimed to identify miRNAs that were increased in the quadriceps of patients with muscle wasting and to determine the molecular pathways by which they contributed to muscle dysfunction. METHODS: miR-542-3p/-5p were quantified in the quadriceps of patients with COPD and intensive care unit acquired weakness (ICUAW)...
August 15, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28809053/case-of-possible-multiple-system-atrophy-with-a-characteristic-imaging-finding-of-open-bladder-neck-during-storage-phase-as-an-initial-sign
#8
Lu Zhang, Nobuhiro Haga, Soichiro Ogawa, Kanako Matsuoka, Tomoyuki Koguchi, Hidenori Akaihata, Junya Hata, Masao Kataoka, Kei Ishibashi, Yoshiyuki Kojima
Multiple system atrophy is a neurodegenerative disease that affects autonomic and motor systems. Patients with multiple system atrophy usually experience lower urinary tract symptoms, which sometimes appear as an initial symptom before the emergence of the generalized symptoms. An open bladder neck during the filling phase on video urodynamic study is one characteristic imaging finding after the diagnosis of multiple system atrophy, but has not previously been reported at an early phase of the disease. We report a case in which an open bladder neck was observed on several imaging modalities before generalized symptoms emerged...
August 15, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28808928/regulation-of-survival-motor-neuron-protein-by-the-nuclear-factor-kappa-b-pathway-in-mouse-spinal-cord-motoneurons
#9
Saravanan Arumugam, Stefka Mincheva-Tasheva, Ambika Periyakaruppiah, Sandra de la Fuente, Rosa M Soler, Ana Garcera
Survival motor neuron (SMN) protein deficiency causes the genetic neuromuscular disorder spinal muscular atrophy (SMA), characterized by spinal cord motoneuron degeneration. Since SMN protein level is critical to disease onset and severity, analysis of the mechanisms involved in SMN stability is one of the central goals of SMA research. Here, we describe the role of several members of the NF-κB pathway in regulating SMN in motoneurons. NF-κB is one of the main regulators of motoneuron survival and pharmacological inhibition of NF-κB pathway activity also induces mouse survival motor neuron (Smn) protein decrease...
August 14, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28808809/evidence-of-dengue-virus-replication-in-a-non-traumatic-spleen-rupture-case
#10
Luiz José de Souza, João de Azevedo, Liza Ingride Acha Kohler, Lorena de Freitas Barros, Mariana Arêdes Lima, Emiliana Mandarano Silva, Ronaldo Mohana-Borges, Priscila Conrado Guerra Nunes, Marciano Viana Paes
The present report describes a case of splenic rupture due to dengue, a rare complication of dengue that should be considered in any patient with suspected dengue disease who started with left upper quadrant abdominal pain and hypotension. The pathophysiology of this entity is not yet well elucidated, but one of the theories present in the literature is that it is due to a depletion of coagulation factors and platelets leading to intra-splenic hemorrhage and rupture. The RT-PCR technique detected serotype 1 and histopathological studies of the spleen revealed significant atrophy of lymphoid follicles and extensive hemorrhage areas...
August 14, 2017: Archives of Virology
https://www.readbyqxmd.com/read/28808617/a-novel-method-of-quantifying-brain-atrophy-associated-with-age-related-hearing-loss
#11
Z Jason Qian, Peter D Chang, Gul Moonis, Anil K Lalwani
A growing body of evidence has shown that a relationship between age-related hearing loss and structural brain changes exists. However, a method to measure brain atrophy associated with hearing loss from a single MRI study (i.e. without an interval study) that produces an independently interpretable output does not. Such a method would be beneficial for studying patterns of structural brain changes on a large scale. Here, we introduce our method for this. Audiometric evaluations and mini-mental state exams were obtained in 34 subjects over the age of 80 who have had brain MRIs in the past 6 years...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28807824/flavan-3-ol-delays-the-progression-of-disuse-atrophy-induced-by-hindlimb-suspension-in-mice
#12
Mao Ito, Naoto Kudo, Yuji Miyake, Tatsuya Imai, Tomoki Unno, Yoko Yamashita, Yoshihisa Hirota, Hitoshi Ashida, Naomi Osakabe
Periods of skeletal muscle disuse, for example due to a sedentary lifestyle or bed rest, are associated with aging and can lead to muscle atrophy. We previously found that the flavan 3-ol fraction derived from cocoa (FL) enhanced energy expenditure with metabolic changes in skeletal muscle. In the present study, we examined the effect of FL on disuse muscle atrophy induced by hindlimb suspension in mice. Male C57BL/6J mice were assigned to four groups as follows: unsuspended-vehicle, unsuspended-FL, suspended-vehicle, and suspended-FL...
August 11, 2017: Experimental Gerontology
https://www.readbyqxmd.com/read/28807454/reconsidering-olfactory-bulb-magnetic-resonance-patterns-in-kallmann-syndrome
#13
Thomas Hacquart, Aïcha Ltaief-Boudrigua, Cécile Jeannerod, Salem Hannoun, Gérald Raverot, Michel Pugeat, Aude Brac de la Perriere, Véronique Lapras, Frédérique Nugues, Catherine Dode, Francois Cotton
OBJECTIVE: The aim of this retrospective study was to perform magnetic resonance imaging assessment of olfactory pathway and skull base abnormalities in Kallmann syndrome (KS) patients with hypogonadotropic hypogonadism and olfaction disorder. METHODS: Magnetic resonance brain patterns were retrospectively studied in 19 patients clinically classified as KS. Qualitative assessment of olfactory bulb region comprised bulb atrophy and rectus and medial orbital gyrus ptosis; quantitative assessment measured olfactory fossa depth and width, sulcus depth and ethmoid angle...
August 11, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28807264/deconstructing-interstitial-fibrosis-and-tubular-atrophy-a-step-toward-precision-medicine-in-renal-transplantation
#14
Michael Mengel
The prerequisite for successful treatment is an accurate diagnosis, a concept coined precision medicine. Progression of interstitial fibrosis and tubular atrophy is widely considered the natural course for all transplanted kidneys. In this issue, Gosset et al. describe discrete disease entities in individual patients and their contribution to interstitial fibrosis and tubular atrophy and its progression. This represents a major step forward in stratifying patients for targeted treatment trials (i.e., a step toward precision medicine in renal transplantation)...
September 2017: Kidney International
https://www.readbyqxmd.com/read/28807072/clavicle-fracture-with-osteomyelitis-after-neck-dissection-and-post-operative-radiotherapy-case-report
#15
R Shodo, Y Sato, H Ota, A Horii
BACKGROUND: Non-traumatic bone fractures in cancer patients are usually pathological fractures due to bone metastases. In head and neck cancer patients, clavicle stress fractures may occur as a result of atrophy of the trapezius muscle after neck dissection in which the accessory nerve becomes structurally or functionally damaged. CASE REPORT: A 71-year-old man underwent modified radical neck dissection with accessory nerve preservation and post-operative radiotherapy for submandibular lymph node metastases of tongue cancer...
August 15, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28806621/traumatic-common-hepatic-artery-injury-causing-isolated-right-hepatic-ischemia-due-to-a-left-accessory-artery-a-case-report
#16
Eduardo Fernandes, Corrado Pedrazzani, Marielia Gerena, Ellen Omi
INTRODUCTION: Hepatic arterial liver flow is renowned for its redundancy. Previous studies have demonstrated that the common hepatic artery is not essential for liver survival. We present a case of a 31year-old involved in a high-speed motor vehicle accident whose liver survived thanks to the presence of an accessory hepatic artery. PRESENTATON OF THE CASE: We present the case of a 31year-old male who sustained a traumatic injury of the proper hepatic artery following a motor vehicle accident...
August 8, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28805573/nonmotor-features-in-atypical-parkinsonism
#17
Kailash P Bhatia, Maria Stamelou
Atypical parkinsonism (AP) comprises mainly multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD), which are distinct pathological entities, presenting with a wide phenotypic spectrum. The classic syndromes are now called MSA-parkinsonism (MSA-P), MSA-cerebellar type (MSA-C), Richardson's syndrome, and corticobasal syndrome. Nonmotor features in AP have been recognized almost since the initial description of these disorders; however, research has been limited...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28804999/diversity-of-astroglial-responses-across-human-neurodegenerative-disorders-and-brain-aging
#18
Isidro Ferrer
Astrogliopathy refers to alterations of astrocytes occurring in diseases of the nervous system, and it implies the involvement of astrocytes as key elements in the pathogenesis and pathology of diseases and injuries of the central nervous system. Reactive astrocytosis refers to the response of astrocytes to different insults to the nervous system, whereas astrocytopathy indicates hypertrophy, atrophy/degeneration and loss of function and pathological remodeling occurring as a primary cause of a disease or as a factor contributing to the development and progression of a particular disease...
September 2017: Brain Pathology
https://www.readbyqxmd.com/read/28804760/autopsy-case-of-the-c12orf65-mutation-in-a-patient-with-signs-of-mitochondrial-dysfunction
#19
Hideaki Nishihara, Masatoshi Omoto, Masaki Takao, Yujiro Higuchi, Michiaki Koga, Motoharu Kawai, Hiroo Kawano, Eiji Ikeda, Hiroshi Takashima, Takashi Kanda
OBJECTIVE: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene. METHODS: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. RESULTS: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respiratory failure at the age of 60...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28804634/muscle-mri-findings-in-a-one-year-old-girl-with-merosin-deficient-congenital-muscular-dystrophy-type-1a-due-to-lama2-mutation-a-case-report
#20
Yingyin Liang, Guidian Li, Songlin Chen, Rongxing He, Xiangxue Zhou, Yingming Chen, Xue Xu, Ronglan Zhu, Cheng Zhang
The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the Cornu posterius of the ventricular lateral...
August 2017: Biomedical Reports
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