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https://www.readbyqxmd.com/read/28222571/the-edurep-approach-plus-manual-therapy-for-the-management-of-insertional-achilles-tendinopathy-a-case-report
#1
Francesco Sartorio, Anna Zanetta, Giorgio Ferriero, Elisabetta Bravini, Stefano Vercelli
BACKGROUND: Insertional Achilles tendinopathy (IAT) is a challenging overuse disorder. The aim of this case report was to study the feasibility of a comprehensive rehabilitative approach according to the Education, Unloading, Reloading, and Prevention (EdUReP) framework combined with Instrument-Augmented Soft Tissue Mobilization (I-ASTM). METHODS: An active 51-year-old man patient with chronic IAT was studied. Clinical assessment battery was composed by visual analogue scale for pain during the Achilles tendon palpation test, passive straight leg raise test, single leg hop test, Patient-Specific Functional Scale, and Foot and Ankle Ability Measure...
February 21, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/28222570/communication-vulnerable-in-patients-with-amyotrophic-lateral-sclerosis-a-systematic-review
#2
Lavoisier Leite Neto, Ana Carolina Constantini, Regina Yu Shon Chun
BACKGROUND: Individuals with Amyotrophic Lateral Sclerosis (ALS) exhibits speech disorders since the early stages that decrease the communication rate and interfere in social participation. OBJECTIVE: To conduct a literature review on communication vulnerable and Augmentative and Alternative Communication (AAC) in Amyotrophic Lateral Sclerosis. METHOD: Descriptors of the Health Sciences Descriptors (DeCS) were used: Amyotrophic Lateral Sclerosis, Health Vulnerability, Communication Barriers, Nonverbal Communication, and Communication Aids for Disabled...
February 10, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28222547/brain-plasticity-after-implanted-peroneal-nerve-electrical-stimulation-to-improve-gait-in-chronic-stroke-patients-two-case-reports
#3
Aurore Thibaut, Florent Moissenet, Carol Di Perri, Céline Schreiber, Angélique Remacle, Elisabeth Kolanowski, Frédéric Chantraine, Claire Bernard, Roland Hustinx, Jean-Flory Tshibanda, Paul Filipetti, Steven Laureys, Olivia Gosseries
BACKGROUND: Recent studies have shown that stimulation of the peroneal nerve using an implantable 4-channel peroneal nerve stimulator could improve gait in stroke patients. OBJECTIVES: To assess structural cortical and regional cerebral metabolism changes associated with an implanted peroneal nerve electrical stimulator to correct foot drop related to a central nervous system lesion. METHODS: Two stroke patients presenting a foot drop related to a central nervous system lesion were implanted with an implanted peroneal nerve electrical stimulator...
February 6, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28222506/synaptic-compensation-as-a-probable-cause-of-prolonged-mild-cognitive-impairment-in-alzheimer-s-disease-implications-from-a-transgenic-mouse-model-of-the-disease
#4
Narjes Baazaoui, Michael Flory, Khalid Iqbal
Alzheimer's disease (AD) is a slow, progressive neurodegenerative disease in which cognitive decline takes place over a period of several years with a very variable period of mild cognitive impairment (MCI) and, in some cases, relatively long period before progression to dementia. The cognitive deficit during MCI is probably due to neuronal loss, an intermediate level of amyloid-β (Aβ) plaques and neurofibrillary tangles (NFT) and synaptosis, which is interrupted with a transient compensatory increase. We found impairment in reference memory accompanied by a decrease in the expression of synaptophysin, β-III tubulin, and MAP2 and a trend for GluR1, at 12 weeks of age in 3xTg-AD mice (hAPPSwe, P301L tau, PS1 [M146V] knock-in), a widely used transgenic model of AD...
February 7, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222501/a-molecular-case-control-study-of-association-of-hnf1a-gene-polymorphisms-rs2259816-and-rs7310409-with-risk-of-coronary-artery-disease-in-iranian-patients
#5
Samaneh Adami Barzi, Sayyed Mohammad Hossein Ghaderian, Zahra Noormohammadi
BACKGROUND: Coronary artery disease (CAD) is the one of the most common heart diseases, being the main factor of mortality and morbidity worldwide. CAD has been known as a multifactorial disease and its progression depends on genetic and environmental factors. Numerous studies have shown evidence for association between 12q24.3 locus and CAD. OBJECTIVES: In the present study, the association of two HNF1A polymorphisms, rs2259816 and rs7310409, located on 12q24.3 locus with CAD was investigated in Iranian patients...
January 24, 2017: Human Antibodies
https://www.readbyqxmd.com/read/28222494/selecting-cases-and-controls-for-dna-sequencing-studies-using-family-histories-of-disease
#6
Wonji Kim, Dandi Qiao, Michael H Cho, Soo Heon Kwak, Kyong Soo Park, Edwin K Silverman, Pak Sham, Sungho Won
Recent improvements in sequencing technology have enabled the investigation of so-called missing heritability, and a large number of affected subjects have been sequenced in order to detect significant associations between human diseases and rare variants. However, the cost of genome sequencing is still high, and a statistically powerful strategy for selecting informative subjects would be useful. Therefore, in this report, we propose a new statistical method for selecting cases and controls for sequencing studies based on family history...
February 21, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/28222427/impact-of-fmr1-pre-mutation-status-on-blastocyst-development-in-patients-undergoing-pre-implantation-genetic-diagnosis
#7
Anne P Hutchinson, Nigel Pereira, Debra P Lilienthal, Siobhán Coveney, Jovana P Lekovich, Rony T Elias, Zev Rosenwaks
BACKGROUND/AIMS: The study aimed to investigate the impact of fragile X mental retardation 1 (FMR1) pre-mutation status on blastocyst development in patients undergoing pre-implantation genetic diagnosis (PGD). METHODS: Case-control study of patients <40 years undergoing PGD at blastocyst stage for FMR1 pre-mutation status. Age-matched patients undergoing PGD for other single gene disorders were considered controls. Blastocyst development, calculated per metaphase II (MII) oocyte retrieved and per 2 pronuclear (2PN) embryos, was compared between the 2 groups...
February 22, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/28222425/post-finasteride-adverse-effects-in-male-androgenic-alopecia-a-case-report-of-vitiligo
#8
Ion G Motofei, David L Rowland, Simona R Georgescu, Mircea Tampa, Stana Paunica, Vlad D Constantin, Cristian Balalau, Mirela Manea, Bogdan C Baleanu, Ioanel Sinescu
Finasteride has proved to be relatively safe and effective in the therapeutic management of male androgenic alopecia. However, literature data report several endocrine imbalances inducing various adverse effects, which often persist after treatment cessation in the form of post-finasteride syndrome. Here we present the case of a 52-year-old man receiving finasteride (1 mg/day) who developed an uncommon adverse effect represented by generalized vitiligo 2 months after finasteride discontinuation. Associated adverse effects encountered were represented by mild sexual dysfunction (as determined by the International Index of Erectile Function, IIEF) and moderate depressive symptoms (according to DSM-V criteria), all of these manifestations aggregating within/as a possible post-finasteride syndrome...
February 22, 2017: Skin Pharmacology and Physiology
https://www.readbyqxmd.com/read/28222408/severe-osteoporosis-with-multiple-spontaneous-vertebral-fractures-in-a-young-male-carrying-triple-polymorphisms-in-the-vitamin-d-receptor-collagen-type-1-and-low-density-lipoprotein-receptor-related-peptide-5-genes
#9
Maria P Yavropoulou, Panagoulia Kollia, Dimitris Chatzidimitriou, Stavroula Samara, Lemonia Skoura, John G Yovos
: Osteoporosis is a common disease with a strong genetic component. Several studies have reported the vitamin D receptor (VDR), collagen type I (COL1A1), and LDL receptor-related protein 5 (LRP5) genes as the most likely candidates. However, most of the studies have been carried out in postmenopausal women and older men and show inconsistent results. CASE PRESENTATION: We report a case of a 26-year old male who presented with severe back pain of acute onset, unrelated to any kind of trauma, and diffuse myalgia...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28222406/leydig-cell-clustering-and-reinke-crystal-distribution-in-relation-to-hormonal-function-in-adult-patients-with-testicular-dysgenesis-syndrome-tds-including-cryptorchidism
#10
Rikke R Soerensen, Trine H Johannsen, Niels E Skakkebaek, Ewa Rajpert-De Meyts
OBJECTIVE: Testicular dysgenesis syndrome (TDS) comprises testicular germ cell cancer, cryptorchidism and some cases of male infertility and hypospadias, which can be linked to impairment of intrauterine gonadal development. Among histological signs of TDS, large Leydig cell (LC) clusters (micronodules) are frequently present. This study aimed to investigate possible associations of LC micronodules with the presence of Reinke crystals and hormonal function of LCs, the latter primarily reflected by serum concentrations of luteinising hormone (LH) and testosterone, in patients with TDS...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28222389/correlation-between-ploidy-status-using-flow-cytometry-and-nucleolar-organizer-regions-in-benign-and-malignant-epithelial-odontogenic-tumors
#11
Sarah Ahmed Mohamed Mahmoud, Dalia Hussein El-Rouby, Safa Fathy Abd El-Ghani, Omnia Mohamed Badawy
OBJECTIVE: Differentiation between the aggressive benign odontogenic tumors and their malignant counterparts is controversial and difficult. While flow cytometry (FCM) allowed DNA analysis in neoplasia, argyrophilic organizer regions (AgNORs) number and/or size in a nucleus are correlated with the ribosomal gene activity and therefore with cellular proliferation. The aim of this research was to study the diagnostic accuracy of FCM and AgNORs staining in differentiating between benign and malignant epithelial odontogenic tumors and to correlate between these two interventions...
February 14, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28222382/corporeal-illusions-in-chronic-spinal-cord-injuries
#12
Michele Scandola, Salvatore Maria Aglioti, Renato Avesani, Gianettore Bertagnoni, Anna Marangoni, Valentina Moro
While several studies have investigated corporeal illusions in patients who have suffered from a stroke or undergone an amputation, only anecdotal or single case reports have explored this phenomenon after spinal cord injury. Here we examine various different types of bodily misperceptions in a comparatively large group of 49 people with spinal cord injury in the post-acute and chronic phases after the traumatic lesion onset. An extensive battery of questionnaires concerning a variety of body related feelings was administered and the results were correlated to the main clinical variables...
February 17, 2017: Consciousness and Cognition
https://www.readbyqxmd.com/read/28222340/a-comparative-retrospective-exploration-of-the-profiles-of-patients-in-south-africa-diagnosed-with-epileptic-and-psychogenic-non-epileptic-seizures
#13
David G Anderson, Maria Damianova, Skye Hanekom, Marilyn Lucas
Psychogenic non-epileptic seizures (PNES) have a high prevalence globally but the accurate diagnosis of this condition still remains a challenge. This is particularly the case in countries where there is scarce expertise and insufficient affordable medical facilities to which patients have access. The rate of PNES diagnosis in epilepsy units is typically within the range of 20 to 30%. In the context of developing countries, this rate tends to be higher and increases demand on the existing scarce health care capacities...
February 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28222336/a-two-step-approach-for-sequencing-spliceosome-related-genes-as-a-complementary-diagnostic-assay-in-mds-patients-with-ringed-sideroblasts
#14
Kamila Janusz, Mónica Del Rey, María Abáigar, Rosa Collado, David Ivars, María Hernández-Sánchez, Alberto Valiente, Cristina Robledo, Rocío Benito, María Díez-Campelo, Fernando Ramos, Alexander Kohlmann, Consuelo Del Cañizo, Jesús María Hernández-Rivas
Our study aimed to analyze the presence of mutations in SF3B1 and other spliceosome-related genes in myelodysplastic syndromes with ringed sideroblasts (MDS-RS) by combining conventional Sanger and next-generation sequencing (NGS) methods, and to determine the feasibility of this approach in a clinical setting. 122 bone marrow samples from MDS-RS patients were studied. Initially, exons 14 and 15 of the SF3B1 gene were analyzed by Sanger sequencing. Secondly, they were studied by NGS covering besides SF3B1, SRSF2, U2AF1 and ZRSR2 genes...
February 4, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28222322/reversal-of-dabigatran-associated-major-bleeding-with-activated-prothrombin-concentrate-a-prospective-cohort-study
#15
Sam Schulman, B Ritchie, S Nahirniak, P L Gross, M Carrier, A Majeed, H-G Hwang, M Zondag
The reversal of dabigatran-associated major bleeding can now be achieved with the antidote idarucizumab. We evaluated activated prothrombin complex concentrate (aPCC) as an alternative for this purpose. Patients treated with dabigatran and suffering a major bleed were treated as per existing hospital protocol with aPCC. They were subsequently recruited for a 30-day follow-up. Effectiveness was evaluated by the treating physician, using an Assessment Guide. Safety outcomes were arterial or venous thromboembolism or death...
February 16, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28222320/antioxidant-polymorphisms-do-not-influence-the-risk-of-epilepsy-or-its-drug-resistance-after-neonatal-hypoxic-ischemic-brain-injury
#16
Katarina Esih, Katja Goričar, Vita Dolžan, Zvonka Rener-Primec
PURPOSE: The aim of this study was to investigate if common functional antioxidant polymorphisms are associated with epilepsy after neonatal hypoxic-ischemic encephalopathy (HIE). The antioxidant enzymes manganese superoxide dismutase (SOD2), glutathione peroxidase 1 (GPX1) and catalase (CAT) represent the primary defence mechanism against reactive oxygen species (ROS). Evidence suggests that genetic variants in antioxidant enzymes could influence susceptibility to epilepsy, but to date the relationship between them remains unclear...
February 3, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28222308/comparative-analysis-of-pd-l1-expression-between-primary-and-metastatic-pulmonary-adenocarcinomas
#17
Sehui Kim, Jaemoon Koh, Dohee Kwon, Bhumsuk Keam, Heounjeong Go, Young A Kim, Yoon Kyung Jeon, Doo Hyun Chung
Programmed death-ligand 1 (PD-L1) expression in pulmonary adenocarcinomas (pADCs) was implicated in predicting anti-PD-1/PD-L1 therapy efficacy. However, the differential expression of PD-L1 between primary and metastatic pADC remains unclear. Thus, we addressed this issue. In total, 161 paired primary and metastatic tumour tissues from 146 patients with pADC were collected. Most of the cases had regional nodal metastasis (134/161, 83.2%). PD-L1 expression was categorised based on the proportion of immunostained tumour cells using cutoff values of 1%, 5%, 10% and 50%...
February 18, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28222300/free-and-cued-selective-reminding-test-accuracy-for-alzheimer-s-and-neurodegenerative-disease-differential-diagnosis-a-large-scale-biomarker-characterized-monocenter-cohort-study-clinad
#18
Marc Teichmann, Stéphane Epelbaum, Dalila Samri, Marcel Levy Nogueira, Agnès Michon, Harald Hampel, Foudil Lamari, Bruno Dubois
INTRODUCTION: The International Working Group recommended the Free and Cued Selective Reminding Test (FCSRT) as a sensitive detector of the amnesic syndrome of the hippocampal type in typical Alzheimer's disease (AD). But does it differentiate AD from other neurodegenerative diseases? METHODS: We assessed the FCSRT and cerebrospinal fluid (CSF) AD biomarkers in 992 cases. Experts, blinded to biomarker data, attributed in 650 cases a diagnosis of typical AD, frontotemporal dementia, posterior cortical atrophy, Lewy body disease, progressive supranuclear palsy, corticobasal syndrome, primary progressive aphasias, "subjective cognitive decline," or depression...
February 18, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28222278/the-enigma-of-traumatic-pseudolipoma-and-traumatic-herniation-of-buccal-fat-pad-a-systematic-review-and-new-classification-system-of-post-traumatic-craniofacial-fatty-masses
#19
Ankeeta Satish Khadilkar, Ashima Goyal, Krishan Gauba
PURPOSE: Intraoral traumatic herniation of the buccal fat pad has been reported using various terms such as traumatic pseudolipoma, traumatic prolapse of buccal fat pad, and traumatic avulsion of buccal fat pad. Because there is no uniformity in nomenclature, this condition needs to be distinguished from other entities such as post-traumatic pseudolipoma and lipoma and pseudoherniation of the buccal fat pad. MATERIALS AND METHODS: A systematic review and thorough search of the literature was planned in online databases such as PubMed, Medline, Scopus, Embase, and Google Scholar...
February 1, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28222263/reaction-mechanism-of-covalent-modification-of-phosphatidylethanolamine-lipids-by-reactive-aldehydes-4-hydroxy-2-nonenal-and-4-oxo-2-nonenal
#20
Katarina Vazdar, Danijela Vojta, Davor Margetić, Mario Vazdar
4-hydroxy-2-nonenal (HNE) and 4-oxo-2-nonenal (ONE) are biologically important reactive aldehydes formed during oxidative stress in phospholipid bilayers. They are highly reactive species due to presence of several reaction centers and can react with amino acids in peptides and proteins, as well as phosphoethanolamine (PE) lipids, thus modifying their biological activity. The aim of this work is to study in a molecular detail the reactivity of HNE and ONE towards PE lipids in a simplified system containing only lipids and reactive aldehydes in dichloromethane as an inert solvent...
February 21, 2017: Chemical Research in Toxicology
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