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https://www.readbyqxmd.com/read/27922246/neonatal-lupus-erythematosus-report-of-a-case-with-cutaneous-hematological-and-hepatobiliary-findings
#1
Andaç Salman, Merve Hatun Sarıçam, Ayşe Deniz Yücelten, Cuyan Demirkesen, Tülin Ergun
Neonatal lupus erythematosus is an autoimmune disorder mainly affecting the heart and skin. It is the most common cause of congenital heart block. In addition, hematological, hepatobiliary and neurological involvement may occur. Herein, we report a 23-day-old infant presented with annular, erythematous, and scaly and atrophic lesions on the face and trunk. Based on the clinical, laboratory and histopathological findings, she was diagnosed as neonatal lupus erythematosus. Neonatal lupus eryhtematosus should be considered in infants presenting with annular skin lesions, and we present this case to highlight the value of high index of clinical suspicion in diagnosis...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922168/update-of-the-swiss-guidelines-on-post-treatment-lyme-disease-syndrome
#2
Johannes Nemeth, Enos Bernasconi, Ulrich Heininger, Mohamed Abbas, David Nadal, Carol Strahm, Stefan Erb, Stefan Zimmerli, Hansjakob Furrer, Julie Delaloye, Thierry Kuntzer, Ekkehard Altpeter, Mathias Sturzenegger, Rainer Weber, For The Swiss Society For Infectious Diseases And The Swiss Society For Neurology
Lyme borreliosis is caused by Borrelia burgdorferi sensu lato infection, which responds well to antibiotic therapy in the overwhelming majority of cases. However, despite adequate antibiotic treatment some patients report persisting symptoms which are commonly summarised as post-treatment Lyme disease syndrome (PTLDS). In 2005, the Swiss Society of Infectious Diseases published a case definition for PTLDS. We aimed to review the scientific literature with a special emphasis on the last 10 years, questioning whether the definitions from 2005 are still valid in the light of current knowledge...
2016: Swiss Medical Weekly
https://www.readbyqxmd.com/read/27921429/-congenital-hyperinsulinism-loss-of-b-cell-self-control
#3
Jan Lebl, Klára Roženková, Štěpánka Průhová
Congenital hyperinsulinism is a serious blood glucose regulation defect that interferes with brain development, leading to mental retardation, neurological sequelae and secondary epilepsy and ultimately may be life-threatening. Congenital hyperinsulinism (CHI) is caused by genetic defects of regulation of insulin secretion that induce insulin oversecretion in intrauterine life and postnatally. The clinical consequence is fetal macrosomia and subsequently neonatal and infantile hypoglycaemia. The most severe form is caused by biallelic mutations of KCNJ11 and ABCC8 genes that encode both potassium channel subunits, whereas their heterozygous mutations as well as enzymatic defects (GLUD1, HADH, GCK) lead to milder presentation...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921161/an-international-urogynecological-association-iuga-international-continence-society-ics-joint-report-on-the-terminology-for-the-conservative-and-nonpharmacological-management-of-female-pelvic-floor-dysfunction
#4
Kari Bo, Helena C Frawley, Bernard T Haylen, Yoram Abramov, Fernando G Almeida, Bary Berghmans, Maria Bortolini, Chantale Dumoulin, Mario Gomes, Doreen McClurg, Jane Meijlink, Elizabeth Shelly, Emanuel Trabuco, Carolina Walker, Amanda Wells
INTRODUCTION AND HYPOTHESIS: There has been an increasing need for the terminology on the conservative management of female pelvic floor dysfunction to be collated in a clinically based consensus report. METHODS: This Report combines the input of members and elected nominees of the Standardization and Terminology Committees of two International Organizations, the International Urogynecological Association (IUGA) and the International Continence Society (ICS), assisted at intervals by many external referees...
December 5, 2016: International Urogynecology Journal
https://www.readbyqxmd.com/read/27921146/bone-loss-at-the-distal-femur-and-proximal-tibia-in-persons-with-spinal-cord-injury-imaging-approaches-risk-of-fracture-and-potential-treatment-options
#5
REVIEW
C M Cirnigliaro, M J Myslinski, M F La Fountaine, S C Kirshblum, G F Forrest, W A Bauman
Persons with spinal cord injury (SCI) undergo immediate unloading of the skeleton and, as a result, have severe bone loss below the level of lesion associated with increased risk of long-bone fractures. The pattern of bone loss in individuals with SCI differs from other forms of secondary osteoporosis because the skeleton above the level of lesion remains unaffected, while marked bone loss occurs in the regions of neurological impairment. Striking demineralization of the trabecular epiphyses of the distal femur (supracondylar) and proximal tibia occurs, with the knee region being highly vulnerable to fracture because many accidents occur while sitting in a wheelchair, making the knee region the first point of contact to any applied force...
December 5, 2016: Osteoporosis International
https://www.readbyqxmd.com/read/27920793/cognitive-decline-in-patients-with-chronic-hydrocephalus-and-normal-aging-growing-into-deficits
#6
Marlijn H de Beer, Philip Scheltens
BACKGROUND/AIM: To explore the theory of 'growing into deficits', a concept known from developmental neurology, in a series of cases with chronic hydrocephalus (CH). METHODS: Patients were selected from the Amsterdam Dementia Cohort and underwent extensive dementia screening. RESULTS: Twelve patients with CH were selected, in whom Alzheimer's disease was considered unlikely, based on biomarker information and follow-up. Mean Mini-Mental State Examination score was 24 (range 7-30)...
September 2016: Dementia and Geriatric Cognitive Disorders Extra
https://www.readbyqxmd.com/read/27920716/acute-clinical-worsening-after-steroid-administration-in-cervical-myelitis-may-reveal-a-subdural-arteriovenous-fistula
#7
Silvia Rain, Jan Udding, Daniel Broere
Subdural arteriovenous fistula (SDAVF) is a rare condition characterized by clinical manifestations ranging from mild bilateral sensory deficits to quadriplegia. The diagnosis is often delayed due to unspecific neurological symptoms, initially diagnosed as polyneuropathy or myelopathy. The diagnosis can be delayed for as long as 1-15 years. The following report describes a cervical SDAVF case initially misdiagnosed as myelitis transversa and treated with intravenous steroids. A 56-year-old male presented with sensory deficits and mild leg and right arm weakness...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27920712/hypertrophic-pachymeningitis-as-an-early-manifestation-of-relapsing-polychondritis-case-report-and-review-of-the-literature
#8
Satoru Ushiyama, Tomomi Kinoshita, Yasuhiro Shimojima, Nobuhiko Ohashi, Dai Kishida, Daigo Miyazaki, Katsuya Nakamura, Yoshiki Sekijima, Shu-Ichi Ikeda
Neurological involvement in relapsing polychondritis (RP) is relatively rare. We describe the case of an 80-year-old man who presented with hypertrophic pachymeningitis (HP) together with arthritis as the first manifestation of RP. Auricular chondritis, which subsequently determined the diagnosis of RP, occurred a few weeks after the detection of HP. The neurological symptoms, as well as arthritis, were promptly improved by treatment with corticosteroids. It is generally difficult to diagnose RP in the absence of typical cartilaginous involvement; however, the present case suggests that HP may occur as an early clinical manifestation of RP...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27920686/single-agent-carboplatin-for-a-rare-case-of-pilomyxoid-astrocytoma-of-the-spinal-cord-in-an-adult-with-neurofibromatosis-type-1
#9
Anastasie M Dunn-Pirio, Elizabeth Howell, Roger E McLendon, Katherine B Peters
INTRODUCTION: Pilomyxoid astrocytoma (PMA) is a rare and more aggressive variant of pilocytic astrocytoma, which usually affects young children and is most often located in the hypothalamic/chiasmatic region. The association of PMA with underlying genetic disorders is not well known. METHODS: We identified a 23-year-old woman with a PMA of the spinal cord who was simultaneously diagnosed with neurofibromatosis type 1. Diagnosis of neurofibromatosis type 1 was made clinically and confirmed with genetic testing that revealed a heterozygous one-amino-acid deletion (c...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27920671/proceedings-of-the-fourth-annual-deep-brain-stimulation-think-tank-a-review-of-emerging-issues-and-technologies
#10
Wissam Deeb, James J Giordano, Peter J Rossi, Alon Y Mogilner, Aysegul Gunduz, Jack W Judy, Bryan T Klassen, Christopher R Butson, Craig Van Horne, Damiaan Deny, Darin D Dougherty, David Rowell, Greg A Gerhardt, Gwenn S Smith, Francisco A Ponce, Harrison C Walker, Helen M Bronte-Stewart, Helen S Mayberg, Howard J Chizeck, Jean-Philippe Langevin, Jens Volkmann, Jill L Ostrem, Jonathan B Shute, Joohi Jimenez-Shahed, Kelly D Foote, Aparna Wagle Shukla, Marvin A Rossi, Michael Oh, Michael Pourfar, Paul B Rosenberg, Peter A Silburn, Coralie de Hemptine, Philip A Starr, Timothy Denison, Umer Akbar, Warren M Grill, Michael S Okun
This paper provides an overview of current progress in the technological advances and the use of deep brain stimulation (DBS) to treat neurological and neuropsychiatric disorders, as presented by participants of the Fourth Annual DBS Think Tank, which was convened in March 2016 in conjunction with the Center for Movement Disorders and Neurorestoration at the University of Florida, Gainesveille FL, USA. The Think Tank discussions first focused on policy and advocacy in DBS research and clinical practice, formation of registries, and issues involving the use of DBS in the treatment of Tourette Syndrome...
2016: Frontiers in Integrative Neuroscience
https://www.readbyqxmd.com/read/27920583/intellijoint-hip-%C3%A2-a-3d-mini-optical-navigation-tool-for-improving-intraoperative-accuracy-during-total-hip-arthroplasty
#11
Wayne G Paprosky, Jeffrey M Muir
Total hip arthroplasty is an increasingly common procedure used to address degenerative changes in the hip joint due to osteoarthritis. Although generally associated with good results, among the challenges associated with hip arthroplasty are accurate measurement of biomechanical parameters such as leg length, offset, and cup position, discrepancies of which can lead to significant long-term consequences such as pain, instability, neurological deficits, dislocation, and revision surgery, as well as patient dissatisfaction and, increasingly, litigation...
2016: Medical Devices: Evidence and Research
https://www.readbyqxmd.com/read/27920092/definition-discrimination-diagnosis-and-treatment-of-central-breathing-disturbances-during-sleep
#12
Winfried Randerath, Johan Verbraecken, Stefan Andreas, Michael Arzt, Konrad E Bloch, Thomas Brack, Bertien Buyse, Wilfried De Backer, Danny Joel Eckert, Ludger Grote, Lars Hagmeyer, Jan Hedner, Poul Jennum, Maria Teresa La Rovere, Carla Miltz, Walter T McNicholas, Josep Montserrat, Matthew Naughton, Jean-Louis Pepin, Dirk Pevernagie, Bernd Sanner, Dries Testelmans, Thomy Tonia, Bart Vrijsen, Peter Wijkstra, Patrick Levy
The complexity of central breathing disturbances during sleep has become increasingly obvious. They present as central sleep apnoeas (CSAs) and hypopnoeas, periodic breathing with apnoeas, or irregular breathing in patients with cardiovascular, other internal or neurological disorders, and can emerge under positive airway pressure treatment or opioid use, or at high altitude. As yet, there is insufficient knowledge on the clinical features, pathophysiological background and consecutive algorithms for stepped-care treatment...
December 5, 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27919709/evaluation-of-anti-zika-virus-activities-of-broad-spectrum-antivirals-and-nih-clinical-collection-compounds-using-a-cell-based-high-throughput-screen-assay
#13
Robert S Adcock, Yong-Kyu Chu, Jennifer E Golden, Dong-Hoon Chung
Recent studies have clearly underscored the association between Zika virus (ZIKV) and severe neurological diseases such as microcephaly and Guillain-Barre syndrome. Given the historical complacency surrounding this virus, however, no significant antiviral screenings have been performed to specifically target ZIKV. As a result, there is an urgent need for a validated screening method and strategy that is focused on highlighting potential anti-ZIKV inhibitors that can be further advanced via rigorous validation and optimization...
December 2, 2016: Antiviral Research
https://www.readbyqxmd.com/read/27919508/the-evaluation-of-mri-diffusion-values-of-active-demyelinating-lesions-in-multiple-sclerosis
#14
Mohammad Abdoli, Santanu Chakraborty, Heather J MacLean, Mark S Freedman
BACKGROUND: Gadolinium (Gd) enhancement of lesions is the main radiologic marker for detection of activity in Multiple Sclerosis (MS). This study compares Diffusion weighted imaging (DWI) characteristics and enhancement to determine whether DWI can be used as an alternative to Gd administration. METHODS: A retrospective study of 72 patients who had MRI with Gd and DWI. Visual assessment and comparison of the Apparent Diffusion Coefficient (ADC) values on Gd+ lesions, all lesions showing restricted diffusion, 2 Gd- lesions and 1 area of normal-appearing white matter (NAWM) in each MRI were performed...
November 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/27919503/binocular-low-contrast-letter-acuity-and-the-symbol-digit-modalities-test-improve-the-ability-of-the-multiple-sclerosis-functional-composite-to-predict-disease-in-pediatric-multiple-sclerosis
#15
Amy T Waldman, Salim Chahin, Amy M Lavery, Geraldine Liu, Brenda L Banwell, Grant T Liu, Laura J Balcer
BACKGROUND: Outcome measures to capture disability, such as the Multiple Sclerosis Functional Composite (MSFC), were developed to enhance outcome measurements for clinical trials in adults with multiple sclerosis (MS). The MSFC initially included three components: a timed 25-foot walk [T25FW], 9-hole peg test [9HPT], and the Paced Auditory Serial Addition Task [PASAT]. Modifications to the original MSFC, such as adding binocular low-contrast letter acuity (LCLA) or substituting the symbol digit modalities test (SDMT) for the PASAT, improved the capacity to capture neurologic impairment in adults...
November 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/27919499/quality-of-life-and-its-correlates-in-adolescent-multiple-sclerosis-patients
#16
Slavica Ostojic, Dejan Stevanovic, Jasna Jancic
INTRODUCTION: Measures of health-related quality of life (HRQOL) are considered to be more comprehensive in health outcome assessments than scales assessing only the degree of neurological deficit. OBJECTIVE: The aim of the study was to evaluate HRQOL and its correlates among adolescents with multiple sclerosis (MS) in Serbia. METHODS: Demographic, clinical, and patient-reported outcome data were collected for 21 adolescents with MS, aged 14-18 years...
November 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/27919478/attitudes-to-cannabis-and-patterns-of-use-among-canadians-with-multiple-sclerosis
#17
Emma Banwell, Bennis Pavisian, Liesly Lee, Anthony Feinstein
BACKGROUND: Canada has the highest incidence of MS worldwide. Anecdotal evidence reveals that people with MS smoke, ingest or vaporize cannabis for a multiplicity of reasons. With the legal situation in relation to use currently in flux, we undertook a study investigating patterns of use amongst people with MS and their attitudes towards the drug. METHODS: A consecutive sample of people with MS (n=246) attending a neurology (n=118) and a neuropsychiatry (n=107) clinic was enrolled and asked to complete a questionnaire containing demographic, disease and cannabis related variables...
November 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/27919474/a-study-of-cognitive-fatigue-in-multiple-sclerosis-with-novel-clinical-and-electrophysiological-parameters-utilizing-the-event-related-potential-p300
#18
Somasundaram Aadhimoolam Chinnadurai, Srinivasan Avathvadi Venkatesan, Gobinathan Shankar, Balasubramanian Samivel, Lakshmi Narasimhan Ranganathan
BACKGROUND: Although cognitive fatigue plays a significant part in Multiple Sclerosis (MS) related impairment, knowledge regarding it is largely lacking. Until now, not many tools are available to a clinician to detect cognitive fatigue. The subjective tools of fatigue have never been reliable.tabl OBJECTIVES: To assess the prevalence and clinical/ demographic profile of cognitive fatigue in MS using novel clinical and electrophysiological measures and to find their accuracy. We also aimed to test the three leading hypotheses - the temporal fatigue, cognitive load and cognitive domain hypotheses of cognitive fatigue in MS...
November 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/27919270/delayed-hyperbaric-oxygen-therapy-for-air-emboli-after-open-heart-surgery-case-report-and-review-of-a-success-story
#19
Eva Niyibizi, Guillaume Elyes Kembi, Claude Lae, Rodrigue Pignel, Tornike Sologashvili
BACKGROUND: The current case describes a rare diagnosis of iatrogenic air emboli after elective cardiopulmonary bypass that was successfully treated with delayed hyperbaric oxygen therapy, with good clinical evolution in spite of rare complications. CASE PRESENTATION: A 35 years old male was admitted to the intensive care unit (ICU) for post-operative management after being placed on cardiopulmonary bypass (CPB) for an elective ventricular septal defect closure and aortic valvuloplasty...
December 5, 2016: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/27919237/a-novel-ano3-variant-identified-in-a-53-year-old-woman-presenting-with-hyperkinetic-dysarthria-blepharospasm-hyperkinesias-and-complex-motor%C3%A2-tics
#20
Patrick R Blackburn, Michael T Zimmermann, Jennifer M Gass, Kimberly G Harris, Margot A Cousin, Nicole J Boczek, Owen A Ross, Eric W Klee, Paul W Brazis, Jay A Van Gerpen, Paldeep S Atwal
BACKGROUND: Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison. CASE PRESENTATION: In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty...
December 5, 2016: BMC Medical Genetics
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