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https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#1
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141186/hyperbaric-oxygen-therapy-ameliorates-pathophysiology-of-3xtg-ad-mouse-model-by-attenuating-neuroinflammation
#2
Ronit Shapira, Beka Solomon, Shai Efrati, Dan Frenkel, Uri Ashery
There is a real need for new interventions for Alzheimer's disease (AD). Hyperbaric oxygen therapy (HBOT), the medical administration of 100% oxygen at conditions greater than 1 atmosphere absolute, has been used successfully to treat several neurological conditions, but its effects on AD pathology have never been thoroughly examined. Therefore, we exposed old triple-transgenic (3xTg) and non-transgenic mice to HBOT followed by behavioral, histological, and biochemical analyses. HBOT attenuated neuroinflammatory processes by reducing astrogliosis, microgliosis, and the secretion of proinflammatory cytokines (IL-1β and TNFα) and increasing expression of scavenger receptor A, arginase1, and antiinflammatory cytokines (IL-4 and IL-10)...
October 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29137084/vertebral-column-decortication-for-the-management-of-sharp-angular-spinal-deformity-in-pott-disease-case-report
#3
Hong-Tao Hu, Feng-Yu Liu, Jin-He Yu, Liang Ren, Zhen-Fang Gu, Xian-Ze Sun
RATIONALE: Extremely sharp angular spinal deformity of healed tuberculosis can be corrected by vertebral column resection (VCR). However, the VCR techniques have many limitations including spinal column instability, greater blood loss, and greater risk of neurologic deficit. PATIENT CONCERNS: We described a new spinal osteotomy technique to collect sharp angular spinal deformity in Pott disease. A 52-year-old woman presented with back pain and gait imbalance. DIAGNOSIS: The kyphosis of healed tuberculosis was diagnosed based on history and imaging examinations...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29137050/uncommon-cause-of-fungemia-in-a-patient-with-renal-cell-cancer-a-case-report-of-candida-lusitaniae-fungemia
#4
Rashmi Mishra, Paul Kelly, Omesh Toolsie, Puvvalingam Ayyadurai, Muhammad Adrish
INTRODUCTION: We present an interesting case of Candida lusitaniae infection in a patient diagnosed with renal clear cell carcinoma.An 82-year-old male presented with worsening back pain for 1 week. Physical examination including neurologic examination was normal. A computed tomography scan of the abdomen revealed a mass in the right upper pole of the kidney suggestive of a renal neoplasm. Pathology from a percutaneous biopsy of the kidney revealed clear cell carcinoma. During his hospitalization the patient developed fungemia due to C lusitaniae...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29136227/developmental-outcome-of-9-year-old-children-born-after-pgs-follow-up-of-a-randomized-trial
#5
Derk Kuiper, Anne Bennema, Sacha la Bastide-van Gemert, Jorien Seggers, Pamela Schendelaar, Sebastiaan Mastenbroek, Annemieke Hoek, Maas Jan Heineman, Tessa J Roseboom, Joke H Kok, Mijna Hadders-Algra
STUDY QUESTION: Does Day-3 cleavage-stage PGS affect neurodevelopment of 9-year-old IVF offspring? SUMMARY ANSWER: We did not find evidence of adverse consequences of Day-3 cleavage-stage PGS on neurodevelopment of 9-year-old IVF offspring, although children born after IVF with or without PGS often had a non-optimal neurological condition. WHAT IS KNOWN ALREADY: Knowledge on long-term sequelae for development and health of children born following PGS is lacking...
November 10, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29136132/aortic-events-and-reoperations-after-elective-arch-surgery-incidence-surgical-strategies-and-outcomes
#6
Maximilian Luehr, Sven Peterss, Andreas Zierer, Davide Pacini, Christian D Etz, Malakh Lal Shrestha, Konstantinos Tsagakis, Bartosz Rylski, Giampiero Esposito, Klaus Kallenbach, Ruggero De Paulis, Paul P Urbanski
OBJECTIVES: The true incidence of aortic events (AEs) and reoperations (REDO) following elective total aortic arch replacement remains unknown. The aim of this study was to review the incidence of AEs and surgical REDO, and its respective outcomes after 1232 elective arch repairs at 11 European aortic centres. METHODS: Retrospective chart review (in the absence of prospective data collection) was performed for statistical analysis. Follow-up was conducted during routine clinical examination or in a telephone interview with patients and/or their respective physicians...
November 9, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29135910/sleep-disordered-breathing-in-children-with-recurrent-wheeze-asthma-a-single-centre-study
#7
Marco Zaffanello, Emma Gasperi, Laura Tenero, Michele Piazza, Angelo Pietrobelli, Luca Sacchetto, Franco Antoniazzi, Giorgio Piacentini
The relationship between asthma and sleep-disordered breathing is bidirectional due to common risk factors that promote airway inflammation. Obstructive sleep-disordered breathing and recurrent wheeze/asthma are conditions that involve the upper and the lower respiratory system, respectively. The aim of the present study was to investigate the sleep disordered breathing in children with recurrent wheeze/asthma. This was a retrospective study concerning children older than 2 years who underwent-between January 2014 and November 2016-an in-laboratory overnight polygraphic study...
November 14, 2017: Children
https://www.readbyqxmd.com/read/29134465/current-role-for-biomarkers-in-clinical-diagnosis-of-alzheimer-disease-and-frontotemporal-dementia
#8
REVIEW
Nasim Sheikh-Bahaei, Seyed Ahmad Sajjadi, Aimee L Pierce
Purpose of review Alzheimer's disease (AD) and frontotemporal dementia can often be diagnosed accurately with careful clinical history, cognitive testing, neurological examination, and structural brain MRI. However, there are certain circumstances wherein detection of specific biomarkers of neurodegeneration or underlying AD pathology will impact the clinical diagnosis or treatment plan. We will review the currently available biomarkers for AD and frontotemporal dementia (FTD) and discuss their clinical importance...
November 14, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/29133321/can-physical-assessment-techniques-aid-diagnosis-in-people-with-chronic-fatigue-syndrome-myalgic-encephalomyelitis-a-diagnostic-accuracy-study
#9
Lucy Hives, Alice Bradley, Jim Richards, Chris Sutton, James Selfe, Bhaskar Basu, Kerry Maguire, Gail Sumner, Tarek Gaber, Annice Mukherjee, Raymond N Perrin
OBJECTIVE: To assess five physical signs to see whether they can assist in the screening of patients with chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) and potentially lead to quicker treatment. METHODS: This was a diagnostic accuracy study with inter-rater agreement assessment. Participants recruited from two National Health Service hospitals, local CFS/ME support groups and the community were examined by three practitioners on the same day in a randomised order...
November 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/29132782/midterm-outcomes-after-postoperative-delirium-on-cognition-and-mood-in-patients-after-cardiac-surgery
#10
Quyen Nguyen, Kelsey Uminski, Brett M Hiebert, Navdeep Tangri, Rakesh C Arora
OBJECTIVE: Delirium is a common neurologic complication after cardiac surgery. Our primary objective was to determine the impact of delirium on self-reported problems with midterm cognitive functioning and mood postcardiac surgery. METHODS: A single-center, prospective cohort study was conducted, enrolling 197 patients undergoing coronary artery bypass grafting or valve replacement. Baseline cognition and mood were assessed preoperatively in elective patients as a part of routine care using the Montreal Cognitive Assessment and Patient Health Questionnaire 9, respectively...
October 20, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29132700/early-operation-in-patients-with-mitral-valve-infective-endocarditis-and-acute-stroke-is-safe
#11
Mehrdad Ghoreishi, Nate Foster, Chetan Pasrija, Aakash Shah, A Claire Watkins, Charlie F Evans, Sam Maghami, Rachael Quinn, Brody Wehman, Bradley S Taylor, Murtaza Y Dawood, Bartley P Griffith, James S Gammie
BACKGROUND: To determine if preoperative embolic stroke is associated with an increased risk of postoperative stroke among patients undergoing early operation for mitral valve (MV) infective endocarditis (IE), we compared outcomes among patients presenting with and without acute stroke. METHODS: From 2003 to 2015, 243 consecutive patients underwent surgery for active MV IE. Patients were categorized into 2 groups: 72% (174 of 243 patients) with no preoperative acute stroke (clinical, radiographic or both) and 28% (69 of 243 patients) with stroke...
November 11, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29131652/novel-homozygous-lrp5-mutations-in-mexican-patients-with-osteoporosis-pseudoglioma-syndrome
#12
Mirena C Astiazarán, María Cervantes-Sodi, Erick Rebolledo-Enríquez, Oscar Chacón-Camacho, Vanessa Villegas, Juan Carlos Zenteno
AIMS: Osteoporosis-pseudoglioma syndrome (OPPG) is an uncommon autosomal recessive disorder characterized by the rare association of early-onset osteoporosis and severe ocular abnormalities such as persistent fetal vasculature and microphthalmia. Biallelic mutations in the low-density lipoprotein receptor-related protein-5 gene (LRP5) have been associated with OPPG. We present clinical and genetic data of three Mexican OPPG patients, a pair of sibs, and a sporadic case. MATERIALS AND METHODS: Three patients underwent clinical examination, including a complete ophthalmic evaluation...
November 13, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29129567/seizure-care-in-the-emergency-department-identifying-and-bridging-the-gaps-a-study-of-care-and-outcomes-from-644-seizure-presentations
#13
Jennifer Williams, Jack Doherty, Chiara Di Blasi, Dimitri Mabarak, Una Kennedy, Colin P Doherty
Care for seizures in an emergency department setting can be variable, and there are disparities in access to onward specialist referral. The purpose of this study was to evaluate the utilization and implementation of an evidence-based seizure care pathway in a busy urban tertiary referral center. A total of 644 seizure presentations over two time points were examined. Initial pathway utilization rates were low at 26.2% but increased to 61.6% after environmental barriers had been addressed. We found that patients placed on the care pathway had higher rates of neurological examination, documentation of safety and legal guidelines as regards driving, and lower rates of seizure readmission...
November 9, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29127079/effect-of-acupuncture-and-chinese-herbal-medicine-on-subacute-stroke-outcomes-a-single-centre-randomised-controlled-trial
#14
Jianqiao Fang, Crystal Lynn Keeler, Lifang Chen, Ruijie Ma, Chao Wang, Shouyu Xu
OBJECTIVE: To determine whether integrative medicine, combining acupuncture and Chinese herbal medicine with conventional rehabilitation during subacute stroke, is an effective comprehensive rehabilitation strategy for daily life activities, neurological deficits, motor dysfunction, cognitive impairment and depression. DESIGN: Randomised controlled trial: patients were randomly assigned to a conventional rehabilitation (CR) group or an integrative medicine rehabilitation (IMR) group with CR plus acupuncture and Chinese herbal medicine...
November 10, 2017: Acupuncture in Medicine: Journal of the British Medical Acupuncture Society
https://www.readbyqxmd.com/read/29125968/the-prevalence-of-anxiety-and-associated-factors-in-persons-with-multiple-sclerosis
#15
Tram Pham, Nathalie Jetté, Andrew G M Bulloch, Jodie M Burton, Samuel Wiebe, Scott B Patten
BACKGROUND: The prevalence of anxiety and its association with sociodemographic and clinical factors is not well characterized in those with multiple sclerosis (MS). We aimed to estimate the prevalence and examine associated factors of anxiety in persons with MS. METHODS: A cross-sectional analysis was conducted utilizing data from 244 participants from the Neurological Disease and Depression study. Anxiety was assessed using the Hospital Anxiety and Depression Scale (HADS)...
November 7, 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29125529/cross-sectional-evaluation-of-visuomotor-tracking-performance-following-subconcussive-head-impacts
#16
E B Brokaw, M S Fine, K E Kindschi, A C Santago Ii, P S Lum, M Higgins
BACKGROUND: Repeated mild traumatic brain injury (mTBI) has been associated with increased risk of degenerative neurological disorders. While the effects of mTBI and repeated injury are known, studies have only recently started examining repeated subconcussive impacts, impacts that do not result in a clinically diagnosed mTBI. In these studies, repeated subconcussive impacts have been connected to cognitive performance and brain imaging changes. OBJECTIVE: Recent research suggests that performance on a visuomotor tracking (VMT) task may help improve the identification of mTBI...
November 3, 2017: Technology and Health Care: Official Journal of the European Society for Engineering and Medicine
https://www.readbyqxmd.com/read/29124557/baseline-predictors-of-dmt-reinitiation-among-patients-with-multiple-sclerosis-following-an-mi-cbt-intervention
#17
Joanie Thelen, Amanda Bruce, Delwyn Catley, Sharon Lynch, Kathy Goggin, Andrea Bradley-Ewing, Morgan Glusman, Abigail Norouzinia, Lauren Strober, Jared Bruce
Patients with multiple sclerosis (MS) are often nonadherent to their disease modifying therapy (DMT). While recent studies demonstrate enhanced DMT adherence following intervention grounded in motivational interviewing (MI), little is known about how to address DMT reinitiation among MS patients who have prematurely discontinued DMT against medical advice and do not intend to reinitiate. We examined baseline predictors of DMT reinitiation among patients with MS who discontinued medications against medical advice following a telephone-based MI and Cognitive Behavioral Therapy (MI-CBT) intervention...
November 9, 2017: Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/29120564/developmental-venous-anomaly-serving-as-a-draining-vein-of-brain-arteriovenous-malformation
#18
Lukas Rasulić, Filip Vitošević, Krešimir Rotim, Svetlana Milošević Medenica, Dragoslav Nestorović
Developmental venous anomalies are cerebral vascular malformations that present normal venous drainage of cerebral tissue. With increased and accessible usage of modern diagnostic tools, they are now one of the most commonly diagnosed cerebral vascular malformations. Although developmental venous anomalies are considered to be benign lesions, association with arteriovenous malformation renders malignant potential to this combined pathology. In the case presented, these malformations were clinically silent and diagnosed accidentally, so they were not treated either with surgery, endovascular surgery or radiosurgery, considering the possible complications such as venous infarction of the brain, and because there was no obvious neurologic deficit related to this pathology...
March 2017: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29120154/predisposing-factors-responsible-for-the-occurrence-of-bacterial-purulent-meningoencephalitis
#19
Brankica Dupanović, Olgica Gajović, Dragica Terzić, Bogdanka Andrić, Zoran Todorović, Branko Jakovljević, Danko Živković
Bacterial purulent meningoencephalitis (BPME) is a life-threatening infectious disease caused by various pyogenic bacteria. The disease is defined as the inflammatory process of leptomeninges (visceral layer, pia mater and arachnoid membrane) and brain parenchyma with exudates in the subarachnoid space and surrounding brain structures. The aim of the study was to define the predisposing factors responsible for the occurrence of BPME, as well as the possible correlation between the presence of predisposing factors and patient demographic characteristics, etiology and outcome of the disease...
March 2017: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29117603/-clinical-tests-for-symptom-validity-assessment
#20
Bernhard Widder
Assessing symptom validity is essential both in the clinical and medicolegal contexts. If neurological symptoms are demonstrated and/or a patient complains of pain that is not or cannot be fully explained by an underlying disease, it is necessary to recognize reliably a possible psychological cause in order to avoid further unnecessary examinations. In the medicolegal context, malingering or exaggeration of complaints for obtaining financial benefit is to be differentiated in a further step. The present overview contains a summary of clinical observations and tests for neurologists and psychiatrists used for symptom validity assessment of sensorimotor symptoms, tremor, gait, equilibrium and visual disturbances as well as pain...
November 8, 2017: Fortschritte der Neurologie-Psychiatrie
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