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https://www.readbyqxmd.com/read/28803755/communicating-complex-genomic-information-a-counselling-approach-derived-from-research-experience-with-autism-spectrum-disorder
#1
Ny Hoang, Cheryl Cytrynbaum, Stephen W Scherer
Individuals with Autism Spectrum Disorder (ASD) share characteristics (impairments in socialization and communication, and repetitive interests and behaviour), but differ in their developmental course, pattern of symptoms, and cognitive and language abilities. The development of standardized phenotyping has revealed ASD to clinically be vastly heterogeneous, ranging from milder presentations to more severe forms associated with profound intellectual disability. Some 100 genes have now been implicated in the etiology of ASD, and advances in genome-wide testing continue to yield new data at an unprecedented rate...
July 29, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28800806/toxicologic-emergencies-in-patients-with-mental-illness-when-medications-are-no-longer-your-friends
#2
REVIEW
Spencer Greene, Erin AufderHeide, Lindsay French-Rosas
Patients with psychiatric disorders are at risk for toxicologic emergencies. Psychotropic medications have numerous effects on the neurologic, cardiac, and other organ systems and interact with other medications, potentially leading to further side effects. It is important to become familiar with accepted psychiatric practice guidelines, common toxidromes, medical sequelae associated with prescribed medications, and the specific workup and treatment of overdoses of frequently prescribed psychotropics.
September 2017: Psychiatric Clinics of North America
https://www.readbyqxmd.com/read/28798906/cerebral-sinovenous-thrombosis
#3
REVIEW
Rebecca Ichord
Cerebral sinovenous thrombosis (CSVT) is a rare but serious cerebrovascular disorder affecting children from the newborn period through childhood and adolescence. The incidence is estimated at 0.6/100,000/year, with 30-50% occurring in newborns. Causes are diverse and are highly age dependent. Acute systemic illness is the dominant risk factor among newborns. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28792087/evaluation-and-management-of-tethered-cord-syndrome-in-occult-spinal-dysraphism-recommendations-from-the-international-children-s-continence-society
#4
REVIEW
Gerald F Tuite, Dominic N P Thompson, Paul F Austin, Stuart B Bauer
AIMS: As awareness and frequency of tethered spinal cord (TSC) related to occult spinal dysraphism (OSD) has increased with magnetic resonance imaging (MRI), variability exists in its evaluation and management. Due to no published level I data, we summarize the current International Children's Continence Society (ICCS) recommendations for diagnosis and treatment of OSD. METHODS: Guidelines were formulated based on analysis of pertinent literature and consensus among authors...
August 9, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28777182/driving-safety-and-fitness-to-drive-in-sleep-disorders
#5
Jon Tippin, Mark Eric Dyken
Driving an automobile while sleepy increases the risk of crash-related injury and death. Neurologists see patients with sleepiness due to obstructive sleep apnea, narcolepsy, and a wide variety of neurologic disorders. When addressing fitness to drive, the physician must weigh patient and societal health risks and regional legal mandates. The Driver Fitness Medical Guidelines published by the National Highway Traffic Safety Administration (NHTSA) and the American Association of Motor Vehicle Administrators (AAMVA) provide assistance to clinicians...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28776173/intensive-versus-standard-lowering-of-blood-pressure-in-the-acute-phase-of-intracranial-haemorrhage-a-systematic-review-and-meta-analysis
#6
Tiziana Carandini, Viviana Bozzano, Elio Scarpini, Nicola Montano, Monica Solbiati
The optimal target of blood pressure (BP) in the acute phase of intracranial haemorrhage (ICH) is still controversial. Our aim was to evaluate safety and efficacy of intensive BP lowering compared to standard BP treatment in ICH. We conducted a systematic review and meta-analysis of all available randomized controlled trials recruiting patients with elevated BP in acute spontaneous ICH to intensive or standard BP-lowering treatment. Our primary outcomes were 3-month mortality, disability (modified Rankin Scale 3-5) and combined death or disability...
August 3, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28771907/xeroderma-pigmentosum-clinical-practice-guidelines
#7
Shinichi Moriwaki, Fumio Kanda, Masaharu Hayashi, Daisuke Yamashita, Yoshitada Sakai, Chikako Nishigori
Xeroderma pigmentosum (XP) is a genetic photosensitive disorder in which patients are highly susceptibe to skin cancers on the sun-exposed body sites. In Japan, more than half of patients (30% worldwide) with XP show complications of idiopathic progressive, intractable neurological symptoms with poor prognoses. Therefore, this disease does not merely present with dermatological symptoms, such as photosensitivity, pigmentary change and skin cancers, but is "an intractable neurological and dermatological disease"...
August 3, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28763154/best-practices-in-peri-operative-management-of-patients-with-skeletal-dysplasias
#8
Klane K White, Viviana Bompadre, Michael J Goldberg, Michael B Bober, Tae-Joon Cho, Julie E Hoover-Fong, Melita Irving, William G Mackenzie, Shawn E Kamps, Cathleen Raggio, Gregory J Redding, Samantha S Spencer, Ravi Savarirayan, Mary C Theroux
Patients with skeletal dysplasia frequently require surgery. This patient population has an increased risk for peri-operative complications related to the anatomy of their upper airway, abnormalities of tracheal-bronchial morphology and function; deformity of their chest wall; abnormal mobility of their upper cervical spine; and associated issues with general health and body habitus. Utilizing evidence analysis and expert opinion, this study aims to describe best practices regarding the peri-operative management of patients with skeletal dysplasia...
August 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28761517/role-of-routine-repeat-computed-tomography-of-brain-in-patients-with-mild-and-moderate-traumatic-brain-injury-a-prospective-study
#9
Jayun M Shah, Kairav S Shah, Jinendra Kumar, Ponraj K Sundaram
BACKGROUND: Computed tomography (CT) has become the primary investigative modality for traumatic brain injury (TBI) and there are established guidelines for the initial CT (CT-1). There are no specific guidelines for scheduling repeat CT in TBI. This study was carried out to compare the usefulness of unscheduled repeat CT (UCT-2) with scheduled repeat CT (SCT-2) in the presence or absence of neurological deterioration and to identify risk factors associated with radiological worsening (RW)...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28759288/neurological-imaging-in-acquired-cranial-nerve-palsy-ophthalmologists-vs-neurologists
#10
Tessa Klein Hesselink, Mari Gutter, Jan Roelof Polling
PURPOSE: Cranial nerve palsies often require neurological imaging by MRI. Guidelines on whether or not to utilize MRI have been absent or lack clarity. In daily practice, both neurologists and ophthalmologists treat patients with cranial nerve palsy and determine whether neuro-imaging is required. There appear to be differences in policy with respect to neuro-imaging. The question, which will be answered in this study, is the following: to what extent do differences in policy exist between ophthalmologists and neurologists regarding imaging by MRI of patients with acquired ocular cranial nerve palsy? METHOD: PubMed database was searched for literature on acquired cranial nerve palsy and MRI scanning performed by ophthalmologists and neurologists...
July 31, 2017: Strabismus
https://www.readbyqxmd.com/read/28757216/epidural-catheter-anchored-in-the-posterior-lateral-epidural-space-how-to-manage-it
#11
C Costa, L Guedes, A Leão, A Sousa, S Fonseca
We describe a case of an epidural catheter entrapment without knotting, kinking, shearing or breakage confirmed by CT scan and how to manage it. A patient was admitted for tibial fracture repair under general anesthesia with an epidural. At discharge day, multiple attempts to retrieve the catheter were made. Contrast CT scan showed the catheter anchored in the left posterior-lateral epidural space. Despite the absence of guidelines regarding epidural catheter entrapment, all the methods described in the literature were used...
July 27, 2017: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/28755567/microcephaly-and-zika-virus-neuroradiological-aspects-clinical-findings-and-a-proposed-framework-for-early-evaluation-of-child-development
#12
Nelci Adriana Cicuto Ferreira Rocha, Ana Carolina de Campos, Fellipe Cicuto Ferreira Rocha, Fernanda Pereira Dos Santos Silva
BACKGROUND AND AIMS: As the recent outbreak of microcephaly cases caused by Zika virus has been declared a global health emergency, providing assessment guidelines for multidisciplinary teams providing early developmental screening and stimulation to infants with microcephaly is much needed. Thus, the aim of this manuscript is to provide an overview on what is known about neuroradiological aspects and clinical findings in infants with microcephaly caused by Zika virus and to propose a framework for early evaluation of child development...
July 26, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28748858/chinese-guidelines-for-the-diagnosis-and-management-of-tumefactive-demyelinating-lesions-of-central-nervous-system
#13
(no author information available yet)
No abstract text is available yet for this article.
August 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28742911/targeted-temperature-management-for-48-vs-24-hours-and-neurologic-outcome-after-out-of-hospital-cardiac-arrest-a-randomized-clinical-trial
#14
RANDOMIZED CONTROLLED TRIAL
Hans Kirkegaard, Eldar Søreide, Inge de Haas, Ville Pettilä, Fabio Silvio Taccone, Urmet Arus, Christian Storm, Christian Hassager, Jørgen Feldbæk Nielsen, Christina Ankjær Sørensen, Susanne Ilkjær, Anni Nørgaard Jeppesen, Anders Morten Grejs, Christophe Henri Valdemar Duez, Jakob Hjort, Alf Inge Larsen, Valdo Toome, Marjaana Tiainen, Johanna Hästbacka, Timo Laitio, Markus B Skrifvars
Importance: International resuscitation guidelines recommend targeted temperature management (TTM) at 33°C to 36°C in unconscious patients with out-of-hospital cardiac arrest for at least 24 hours, but the optimal duration of TTM is uncertain. Objective: To determine whether TTM at 33°C for 48 hours results in better neurologic outcomes compared with currently recommended, standard, 24-hour TTM. Design, Setting, and Participants: This was an international, investigator-initiated, blinded-outcome-assessor, parallel, pragmatic, multicenter, randomized clinical superiority trial in 10 intensive care units (ICUs) at 10 university hospitals in 6 European countries...
July 25, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28741102/the-range-of-neurological-complications-in-chikungunya-fever
#15
T Cerny, M Schwarz, U Schwarz, J Lemant, P Gérardin, E Keller
BACKGROUND: Chikungunya fever is a globally spreading mosquito-borne disease that shows an unexpected neurovirulence. Even though the neurological complications have been a major cause of intensive care unit admission and death, to date, there is no systematic analysis of their spectrum available. OBJECTIVE: To review evidence of neurological manifestations in Chikungunya fever and map their epidemiology, clinical spectrum, pathomechanisms, diagnostics, therapies and outcomes...
May 25, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28737894/dual-role-of-gold-nanorods-inhibition-and-dissolution-of-a%C3%AE-fibrils-induced-by-near-ir-laser
#16
Swathi Sudhakar, Poornima Budime Santhosh, Ethayaraja Mani
Extracellular plaques of amyloid beta (Aβ) fibrils and neurofibrillary tangles are known to be associated with neurological diseases such as Alzheimer's disease. Studies have shown that spherical nanoparticles inhibit the formation of Aβ fibrils by intercepting the nucleation and growth pathways of fibrillation. In this report, gold nanorods (AuNRs) are used to inhibit the formation of Aβ fibrils and the shape-dependent plasmonic properties of AuNRs are exploited to faciliate faster dissolution of mature Aβ fibrils...
August 8, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28737572/european-society-for-paediatric-gastroenterology-hepatology-and-nutrition-guidelines-for-the-evaluation-and-treatment-of-gastrointestinal-and-nutritional-complications-in-children-with-neurological-impairment
#17
Claudio Romano, Myriam van Wynckel, Jessie Hulst, Ilse Broekaert, Jiri Bronsky, Luigi Dall'Oglio, Nataša F Mis, Iva Hojsak, Rok Orel, Alexandra Papadopoulou, Michela Schaeppi, Nikhil Thapar, Michael Wilschanski, Peter Sullivan, Frédéric Gottrand
OBJECTIVES: Feeding difficulties are frequent in children with neurological impairments and can be associated with undernutrition, growth failure, micronutrients deficiencies, osteopenia, and nutritional comorbidities. Gastrointestinal problems including gastroesophageal reflux disease, constipation, and dysphagia are also frequent in this population and affect quality of life and nutritional status. There is currently a lack of a systematic approach to the care of these patients. With this report, European Society of Gastroenterology, Hepatology and Nutrition aims to develop uniform guidelines for the management of the gastroenterological and nutritional problems in children with neurological impairment...
August 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28735260/aetiological-investigations-in-early-developmental-impairment-are-they-worth-it
#18
Anthony Richard Hart, Ruchi Sharma, Mark Atherton, Samer Alabed, Sally Simpson, Stuart Barfield, Judith Cohen, Nicholas McGlashan, Asha Ravi, Michael James Parker, Daniel Ja Connolly
OBJECTIVE: To study the frequency a diagnosis is made in children with early developmental impairment (EDI), and the contribution made to diagnosis by specific investigations. DESIGN: Retrospective case note review. SETTING: Community, neurodisability and neurology department at a UK tertiary centre. PARTICIPANTS: Children referred to determine the aetiology of EDI where a cause was not evident on history and examination...
July 22, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28734555/decisional-and-dispositional-capacity-determinations-neuropsychiatric-illness-and-an-integrated-clinical-paradigm
#19
REVIEW
James A Bourgeois, Mary Ann Cohen, Jennifer M Erickson, Rebecca Weintraub Brendel
BACKGROUND: Assessment of decisional capacity requires thorough clinical review of a patient's current psychiatric symptoms and cognitive processes. The assessment to determine the patient's capacity for self-management postdischarge is a different clinical concept from decisional capacity. OBJECTIVES: Standardized guidelines for capacity determinations (both for informed consent and for disposition) would be helpful to clinicians, patients, and their caregivers...
May 13, 2017: Psychosomatics
https://www.readbyqxmd.com/read/28728893/2015-revised-utstein-style-recommended-guidelines-for-uniform-reporting-of-data-from-drowning-related-resuscitation-an-ilcor-advisory-statement
#20
Ahamed H Idris, Joost J L M Bierens, Gavin D Perkins, Volker Wenzel, Vinay Nadkarni, Peter Morley, David S Warner, Alexis Topjian, Allart M Venema, Christine M Branche, David Szpilman, Luiz Morizot-Leite, Masahiko Nitta, Bo Løfgren, Jonathon Webber, Jan-Thorsten Gräsner, Stephen B Beerman, Chun Song Youn, Ulrich Jost, Linda Quan, Cameron Dezfulian, Anthony J Handley, Mary Fran Hazinski
BACKGROUND: Utstein-style guidelines use an established consensus process, endorsed by the international resuscitation community, to facilitate and structure resuscitation research and publication. The first "Guidelines for Uniform Reporting of Data From Drowning" were published over a decade ago. During the intervening years, resuscitation science has advanced considerably, thus making revision of the guidelines timely. In particular, measurement of cardiopulmonary resuscitation elements and neurological outcomes reporting have advanced substantially...
September 2017: Resuscitation
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