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https://www.readbyqxmd.com/read/28813090/brazilian-consensus-on-duchenne-muscular-dystrophy-part-1-diagnosis-steroid-therapy-and-perspectives
#1
Alexandra P Q C Araujo, Alzira A S de Carvalho, Eduardo B U Cavalcanti, Jonas Alex M Saute, Elmano Carvalho, Marcondes C França, Alberto R M Martinez, Monica de M M Navarro, Anamarli Nucci, Maria Bernadete D de Resende, Marcus Vinicius M Gonçalves, Juliana Gurgel-Giannetti, Rosana H Scola, Cláudia F da R Sobreira, Umbertina C Reed, Edmar Zanoteli
Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination of the Delphi technique with a systematic review of studies from 2010 to 2016 was employed to classify evidence levels and grade of recommendations. Our recommendations were divided in two parts. We present Part 1 here, where we describe the guideline methodology and overall disease concepts, and also provide recommendations on diagnosis, steroid therapy and new drug treatment perspectives for DMD...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28813037/concomitant-bladder-cancer-and-prostate-cancer-challenges-and-controversies
#2
REVIEW
Antonio Lopez-Beltran, Liang Cheng, Francesco Montorsi, Maria Scarpelli, Maria R Raspollini, Rodolfo Montironi
Radical cystoprostatectomy (RCP) followed by bilateral pelvic lymphadenectomy and urinary diversion remains the gold-standard therapy for men with localized muscle-invasive bladder cancer (MIBC). Prostate cancer might be incidentally detected at the time of RCP with a reported prevalence of 24-51%. Typically, these patients are considered to have clinically insignificant disease, but data from emerging series challenge this assumption and suggest that some of these tumours might be aggressive, or somehow increase the aggressiveness of the associated MIBC, and can negatively influence the patient's overall survival outcomes...
August 16, 2017: Nature Reviews. Urology
https://www.readbyqxmd.com/read/28812921/a-case-of-concurrent-silent-sinus-syndrome-thyroid-eye-disease-idiopathic-orbital-inflammatory-syndrome-and-dacryoadenitis
#3
Wen-Shi Shieh, Alison B Huggins, Mindy R Rabinowitz, Marc R Rosen, Michael P Rabinowitz
This is a retrospective case description of a single female patient found to have concomitant bilateral silent sinus syndrome, bilateral thyroid eye disease, unilateral dacryoadenitis, and idiopathic orbital inflammation that presented as progressive unilateral right-sided proptosis. The spectrum of inflammatory orbital diseases can make discerning between different entities challenging, but more unique in this case was the simultaneous presentation with bilateral silent sinus syndrome, a rare entity in its own right...
August 16, 2017: Orbit
https://www.readbyqxmd.com/read/28812914/retrospective-chart-review-of-the-use-of-imaging-and-biopsy-in-the-diagnosis-of-optic-nerve-sheath-meningiomas-and-intra-conal-orbital-lymphomas-at-a-single-institution
#4
Anna Parlin, Alina Dumitrescu, William T Nunery, Peter J Timoney, Jason A Sokol
Optic nerve sheath meningiomas (ONSM) and intra-conal orbital lymphomas are common entities on the differential of a retrobulbar optic nerve involving space-occupying lesion. In this study, we compare the pre-surgical diagnosis, based on clinical presentation and neuroimaging, to the surgical pathology results of intra-conal orbital lymphomas and ONSM. This is an IRB approved retrospective chart review of orbital lymphomas and optic nerve sheath meningiomas biopsied by a single surgeon over a 4-year period at a single institution...
August 16, 2017: Orbit
https://www.readbyqxmd.com/read/28812833/evaluating-the-implementation-and-feasibility-of-a-web-based-tool-to-support-timely-identification-and-care-for-the-frail-population-in-primary-healthcare-settings
#5
Beverley Lawson, Tara Sampalli, Stephanie Wood, Grace Warner, Paige Moorhouse, Rick Gibson, Laurie Mallery, Fred Burge, Lisa G Bedford
BACKGROUND: Understanding and addressing the needs of frail persons is an emerging health priority for Nova Scotia and internationally. Primary healthcare (PHC) providers regularly encounter frail persons in their daily clinical work. However, routine identification and measurement of frailty is not standard practice and, in general, there is a lack of awareness about how to identify and respond to frailty. A web-based tool called the Frailty Portal was developed to aid in identifying, screening, and providing care for frail patients in PHC settings...
March 7, 2017: International Journal of Health Policy and Management
https://www.readbyqxmd.com/read/28812815/stakeholders-perspectives-on-the-success-drivers-in-ghana-s-national-health-insurance-scheme-identifying-policy-translation-issues
#6
Adam Fusheini, Gordon Marnoch, Ann Marie Gray
BACKGROUND: Ghana's National Health Insurance Scheme (NHIS), established by an Act of Parliament (Act 650), in 2003 and since replaced by Act 852 of 2012 remains, in African terms, unprecedented in terms of growth and coverage. As a result, the scheme has received praise for its associated legal reforms, clinical audit mechanisms and for serving as a hub for knowledge sharing and learning within the context of South-South cooperation. The scheme continues to shape national health insurance thinking in Africa...
October 1, 2016: International Journal of Health Policy and Management
https://www.readbyqxmd.com/read/28812578/throw-caution-to-the-wind-is-refeeding-syndrome-really-a-cause-of-death-in-acute-care
#7
K L Matthews, S M Capra, M A Palmer
BACKGROUND/OBJECTIVES: Refeeding syndrome (RFS), a life-threatening medical condition, is commonly associated with acute or chronic starvation. While the prevalence of patients at risk of RFS in hospital reportedly ranges from 0 to 80%, the prevalence and types of patients who die as a result of RFS is unknown. We aimed to measure the prevalence rate and examine the case histories of patients who passed away with RFS listed as a cause of death. SUBJECTS/METHODS: Patients were eligible for inclusion provided their death occurred within a Queensland hospital...
August 16, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28812538/development-of-pathogenicity-predictors-specific-for-variants-that-do-not-comply-with-clinical-guidelines-for-the-use-of-computational-evidence
#8
Elena Álvarez de la Campa, Natàlia Padilla, Xavier de la Cruz
BACKGROUND: Strict guidelines delimit the use of computational information in the clinical setting, due to the still moderate accuracy of in silico tools. These guidelines indicate that several tools should always be used and that full coincidence between them is required if we want to consider their results as supporting evidence in medical decision processes. Application of this simple rule certainly decreases the error rate of in silico pathogenicity assignments. However, when predictors disagree this rule results in the rejection of potentially valuable information for a number of variants...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28812537/leveraging-network-analytics-to-infer-patient-syndrome-and-identify-causal-genes-in-rare-disease-cases
#9
Andreas Krämer, Sohela Shah, Robert Anthony Rebres, Susan Tang, Daniel Rene Richards
BACKGROUND: Next-generation sequencing is widely used to identify disease-causing variants in patients with rare genetic disorders. Identifying those variants from whole-genome or exome data can be both scientifically challenging and time consuming. A significant amount of time is spent on variant annotation, and interpretation. Fully or partly automated solutions are therefore needed to streamline and scale this process. RESULTS: We describe Phenotype Driven Ranking (PDR), an algorithm integrated into Ingenuity Variant Analysis, that uses observed patient phenotypes to prioritize diseases and genes in order to expedite causal-variant discovery...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28812528/acute-leukemia-in-horses
#10
Carina J Cooper, Stefan M Keller, Luis G Arroyo, Joanne Hewson, Daniel Kenney, Dorothee Bienzle
Leukemia is broadly divided into acute and chronic lymphocytic and myeloid types based on the proportion of blasts, morphology of cells, and expression of specific antigens on neoplastic cells. Classifying leukemia in horses can be challenging if blasts predominate and since few antibodies to identify cell types are available. The objective of this study was to describe in detail the clinical and pathologic features of acute leukemia in horses. Twelve horses ranging from 0.2 to 25.9 years of age were diagnosed with acute leukemia...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28812472/modifiable-risk-factors-associated-with-bronchiolitis
#11
Raffaella Nenna, Renato Cutrera, Antonella Frassanito, Claudia Alessandroni, Ambra Nicolai, Giulia Cangiano, Laura Petrarca, Serena Arima, Serena Caggiano, Nicola Ullman, Paola Papoff, Enea Bonci, Corrado Moretti, Fabio Midulla
BACKGROUND: We sought to clarify possibly modifiable risk factors related to pollution responsible for acute bronchiolitis in hospitalized infants. METHODS: For this observational study, we recruited 213 consecutive infants with bronchiolitis (cases: median age: 2 months; age range: 0.5-12 months; boys: 55.4%) and 213 children aged <3 years (controls: median age: 12 months; age range: 0.5-36 months; boys: 54.5%) with a negative medical history for lower respiratory tract diseases hospitalized at 'Sapienza' University Rome and IRCCS Bambino Gesù Hospital...
August 1, 2017: Therapeutic Advances in Respiratory Disease
https://www.readbyqxmd.com/read/28812469/placental-pathologic-associations-with-morbidly-adherent-placenta-potential-insights-into-pathogenesis
#12
Linda M Ernst, Rebecca L Linn, Lucy Minturn, Emily S Miller
Background The pathology that underlies morbidly adherent placenta (MAP) is poorly understood. The objective of this study was to describe the placental pathology, especially implantation site pathology, associated with MAP. Methods This was a single institution, retrospective case-control study design examining placentas of patients who delivered between January 2008 and September 2013. MAP cases were defined by the need for clinical intervention at delivery beyond spontaneous placental delivery or simple manual extraction of the placenta...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812463/novel-col1a1-mutation-c-3290g-t-associated-with-severe-form-of-osteogenesis-imperfecta-in-a-fetus
#13
Laura Tanner, Paula Vainio, Minna Sandell, Jukka Laine
Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility. Its severity ranges from nearly asymptomatic individuals to perinatal lethality. The majority of cases are caused by mutations in either the COL1A1 or the COL1A2 gene coding for alpha 1 and alpha 2 chains of collagen type 1, respectively, and a large number of pathogenic variants of these genes has been identified. We describe a novel COL1A1 mutation associated with prenatally diagnosed severe form of osteogenesis imperfecta...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812462/severe-intrauterine-amputations-in-one-dichorionic-twin-with-pentalogy-of-cantrell-further-evidence-and-consideration-for-mechanical-teratogenesis
#14
Víctor M Salinas-Torres, Estivaliz A De La O-Espinoza, Rafael A Salinas-Torres
Pentalogy of Cantrell (PC) is characterized by midline supraumbilical abdominal wall defect, lower sternum defect, anterior diaphragmatic and pericardial defect, and congenital cardiac anomalies. Several etiological influences have been postulated, however, most of the reported cases are sporadic. In addition, evidence for mechanical teratogenesis in PC is limited. Here, we describe in one dichorionic twin with complete PC, additional severe intrauterine amputations (mainly head and neck) not previously reported resultant from mechanical teratogenesis...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812455/prognostic-factors-for-change-in-self-reported-anxiety-and-depression-in-spondyloarthritis-patients-data-from-the-population-based-spascania-cohort-from-southern-sweden
#15
Jjl Meesters, S Bergman, E Haglund, Lth Jacobsson, I F Petersson, A Bremander
OBJECTIVES: Anxiety and depression symptoms are more common in patients with spondyloarthritis (SpA) than in the general population. This study describes prognostic factors for change in self-reported anxiety and depression over 2 years in a well-defined SpA cohort. METHOD: In 2009, 3716 adult patients from the SpAScania cohort received a postal questionnaire to assess quality of life (QoL) and physical and mental functioning. A follow-up survey was performed in 2011...
August 16, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28812419/the-effects-of-exergaming-and-treadmill-training-on-gait-balance-and-cognition-in-a-person-with-parkinson-s-disease-a-case-study
#16
Srikant Vallabhajosula, Amy K McMillion, Jane E Freund
BACKGROUND: Parkinson's disease (PD) commonly impairs posture, gait, and cognition. Exercise in the form of aerobic activity as well as exergaming may improve motor ability and cognition in persons with PD. Exergaming and treadmill training can be a practical form of exercise within the home; however, there is minimal research on this combined multimodal intervention for persons with PD. OBJECTIVE: We investigated the effects of this combined intervention on cognition, balance, and gait in a person with PD through supervised lab sessions augmented by home-based sessions...
August 16, 2017: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/28812406/types-of-orbital-osteoma-a-descriptive-analysis
#17
Tayyab Afghani, Hassan Mansoor
AIMS: This study describes different types of orbital osteoma based on clinical per-operative morphology and radiological findings to facilitate communication between ophthalmologists and surgical management for a better patient outcome. MATERIALS AND METHODS: The study was conducted in the Orbit and Oculoplastics Department of Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan, from July 1, 2001 to June 30, 2014. A retrospective analysis of 520 diagnosed orbital tumours who presented to us was carried out and the prevalence of orbital osteoma was determined...
August 16, 2017: Orbit
https://www.readbyqxmd.com/read/28812381/retrospective-review-of-sglt2-inhibitor-exposures-reported-to-13-poison-centers
#18
Scott E Schaeffer, Carol DesLauriers, Henry A Spiller, Alfred Aleguas, Salvador Baeza, Mark L Ryan
BACKGROUND: SGLT2 inhibitors are a new class of oral antidiabetics prescribed in the United States since 2013. They act by inhibiting reabsorption of glucose in the proximal convoluted tubule of the kidney, allowing excess glucose to be excreted. Little has been reported regarding effects of non-therapeutic exposure to this class of medication. METHODS: Retrospective records from 13 poison centers were examined for human exposures to SGLT2 inhibitors between 1st January 2013 and 31st December 2016...
August 16, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28812302/management-of-sleep-wake-disturbances-comorbid-with-cancer
#19
Ann M Berger Aprn, Ellyn E Matthews Cbsm, Ashley M Kenkel
It is critical that clinicians and healthcare systems adopt routine screening and affordable interventions to reduce chronic insomnia and improve the quality of life in cancer patients and survivors. We provide expert clinical advice on how to manage sleep-wake disturbances that occur comorbidly with cancer. Our discussion focuses on the etiology, screening, and assessment of sleep-wake disturbances, and on both nonpharmacologic and pharmacologic interventions to manage sleep disturbances, insomnia, and sleep-related breathing disorders...
August 15, 2017: Oncology (Williston Park, NY)
https://www.readbyqxmd.com/read/28812283/hydrodynamic-rupture-of-liver-in-combat-patient-a-case-of-successful-application-of-damage-control-tactic-in-area-of-the-hybrid-war-in-east-ukraine
#20
Igor Khomenko, Vitalii Shapovalov, Ievgen Tsema, Georgii Makarov, Roman Palytsia, Ievgen Zavodovskyi, Ivan Ishchenko, Andrii Dinets, Vladimir Mishalov
BACKGROUND: The hybrid war of Russia against Ukraine has been started in certain districts of Donetsk and Luhansk oblasts within the Donbas area in 2014. CASE PRESENTATION: We report a clinical case of a combat patient who was injured after the multiple launcher rocket system "Grad" shelling, diagnosed with hydrodynamic liver rupture followed by medical management with application of damage control (DC) tactic in conditions of hybrid war. The patient underwent relaparatomy, liver resection, endoscopic papillosphincterotomy, endoscopic retrograde cholecystopancreatography, stenting of the common bile duct, and VAC-therapy...
August 15, 2017: Surgical Case Reports
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