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https://www.readbyqxmd.com/read/29334628/production-and-characterization-of-human-induced-pluripotent-stem-cells-ipscs-from-joubert-syndrome-cssi001-a-2850
#1
Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi
Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29334519/the-most-common-causes-of-eye-pain-at-2-tertiary-ophthalmology-and-neurology-clinics
#2
Randy C Bowen, Jan N Koeppel, Chance D Christensen, Karisa B Snow, Junjie Ma, Bradley J Katz, Howard R Krauss, Klara Landau, Judith E A Warner, Alison V Crum, Dominik Straumann, Kathleen B Digre
BACKGROUND: Eye pain is a common complaint, but no previous studies have determined the most common causes of this presenting symptom. Our objective was to determine the most common causes of eye pain in 2 ophthalmology and neurology departments at academic medical centers. METHODS: This was a retrospective cross-sectional analysis and chart review at the departments of ophthalmology and neurology at the University Hospital Zurich (USZ), University of Zürich, Switzerland, and the University of Utah (UU), USA...
January 12, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29334295/neuritin-provides-neuroprotection-against-experimental-traumatic-brain-injury-in-rats
#3
Qi Liu, Hang Zhang, Jian Xu, Dong Zhao
Objectives Traumatic brain injury (TBI) is a leading cause of death and disability worldwide. Neuritin is a neurotrophic factor that regulates neural growth and development. However, the role of neuritin in alleviating TBI has not been investigated. Methods In this study, Sprague Dawley rats (n = 144) weighing 300 ± 50 g were categorized into control, sham, TBI, and TBI + neuritin groups. The neurological scores and the ultrastructure of cortical neurons, apoptotic cells, and caspase-3 were measured by using Garcia scoring system, transmission electron microscopy, terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling, Western blot analysis, and real-time RT-PCR at various time points post-TBI...
January 15, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29334268/analysis-of-the-development-and-progression-of-carbon-monoxide-poisoning-related-acute-kidney-injury-according-to-the-kidney-disease-improving-global-outcomes-kdigo-criteria
#4
Youn-Jung Kim, Chang Hwan Sohn, Dong-Woo Seo, Bum Jin Oh, Kyoung Soo Lim, Jai Won Chang, Won Young Kim
CONTEXT: Acute kidney injury (AKI) can occur after carbon monoxide (CO) intoxication; however, limited data are available. This study aimed to evaluate the prognostic value of the development and progression of AKI in patients with acute CO poisoning. MATERIALS AND METHODS: We conducted a retrospective cohort study using a prospective registry of CO poisoning between January 2010 and December 2015. AKI was defined and classified according to the Kidney Disease Improving Global Outcomes (KDIGO) criteria...
January 15, 2018: Clinical Toxicology
https://www.readbyqxmd.com/read/29334038/robotic-assisted-and-image-guided-mri-compatible-stereoelectroencephalography
#5
Jeffery A Hall, Hui Ming Khoo
BACKGROUND: Stereoelectroencephalography has been in regular use at the Montreal Neurological Institute since 1972. The technique has been in constant evolution to incorporate advances in materials, imaging, and robotics technology. MRI-compatible electrodes were introduced in 2007 and robotics in 2011. Here we report on the technique, safety, and advantages of our current method of stereoelectroencephalography implantation. METHODS: We retrospectively reviewed all patients who underwent stereoelectroencephalography by the senior author...
January 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29333935/association-between-human-papilloma-virus-hpv-vaccination-and-risk-of-multiple-sclerosis-a-systematic-review
#6
Angela Meggiolaro, Giuseppe Migliara, Giuseppe La Torre
INTRODUCTION: The vaccination against Humanpapilloma Virus (HPV) is an effective strategy to prevent high-risk HPV infection and subsequent cervical carcinogenesis. Although the safety profile has been ascertained, the relation with the development of central nervous system (CNS) autoimmune disorders (AD) appears still controversial. Multiple Sclerosis (MS) is the most common cause of chronic neurological impairment in young people, typically striking females. The main purpose of this review was to assess the association between HPV vaccination and MS...
January 15, 2018: Human Vaccines & Immunotherapeutics
https://www.readbyqxmd.com/read/29333903/the-first-report-of-relative-incidence-of-inherited-white-matter-disorders-in-an-asian-country-based-on-an-iranian-bioregistry-system
#7
Mahmoud Reza Ashrafi, Zahra Rezaei, Morteza Heidari, Sedigheh Nikbakht, Reza Azizi Malamiri, Mahmoud Mohammady, Gholam Reza Zamani, Reza Shervin Badv, Parastoo Rostami, Mojtaba Movahedinia, Mostafa Qorbani, Man Amanat, Ali Reza Tavasoli
Childhood leukodystrophies are a fast-growing field of pediatric neurology practice. Epidemiologic studies on the incidence of these disorders in children show different results. This is the first report of childhood leukodystrophies incidence from Iran. The enrolled patients were recruited from the neurometabolic bioregistry system that was organized in 2010 in the Children's Medical Center, Tehran, Iran. Herein is reported the incidence rate of leukodystrophies in those patients who were residents of 2 big popular provinces near Iran's capital city Tehran, with an average child population of 2 988 800 children...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29333836/-phakomatosis-pigmentovascularis-cesioflammea-a-case-report
#8
María C Viada Peláez, Paola C Stefano, Ana Cirio, Andrea B Cervini
Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. We report the case of a 1-year-old girl who had congenital glaucoma...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333828/-congenital-horner-syndrome-case-report
#9
Romina B Vera Olivera, Loreley FernándezI, Ana P Arias, Diego Ballarino, Andrea Jara
Horner syndrome is characterized by the following triad of clinical signs: miosis, ptosis and facial anhidrosis. In addition, iris heterochromia, conjunctival injection, facial erythema, congestive nasal mucosa and apparent enophthalmos secondary to the reduction of the palpebral fissure can appear. It is caused by an interruption of the sympathetic pathway that extends from the hypothalamus to the orbit. Because there is no decussation, the signs are homolateral to the lesion. Traditionally, it is classified as congenital and acquired...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333814/morbidity-in-congenital-heart-surgery-in-a-public-hospital-in-argentina
#10
María Althabe, Ricardo Rodríguez R, María Balestrini, Alberto Charroqui, Mariela Krynski, Ana M Lenz, Mercedes Montonati, Guillermo Moreno, María L Pilan, Ricardo Magliola, Pablo García Delucis
OBJECTIVE: To describe the complications associated with heart surgery, compare them to a reference population, and identify mortality risk factors. PATIENTS AND METHODS: Retrospective and descriptive study. All patients who underwent surgery at Hospital Garrahan in the 2013-2015 period were included. Age, weight, procedure, mechanical ventilation, length of stay in days, morbidity, and course were recorded. Renal failure requiring dialysis, neurological deficit, permanent pacemaker, circulatory support, phrenic nerve or vocal cord palsy, reoperation, wound infection, chylothorax, and tracheotomy were considered morbidities...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333806/asq-3-validation-of-the-ages-and-stages-questionnaire-for-the-detection-of-neurodevelopmental-disorders-in-argentine-children
#11
Ana M Romero Otalvaro, Nora Grañana, Nadia Gaeto, María de Los Á Torres, María N Zamblera, María A Vasconez, Claudia Misenta, María E Rouvier, Jane Squires
INTRODUCTION: The systematic assessment of child development in the first years of life is an essential component of pediatric health checkups. The Ages and Stages Questionnaire, third edition (ASQ-3) is the most validated scale, and has been recommended by the UNICEF to verify if children have a normal neurological development. It is a monitoring instrument to assess the main developmental areas, including communication, gross motor, fine motor, personal-social, and problem solving skills, and to compare the local population to the international development standards...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333676/ether-%C3%A3-go-go-k-channels-effective-modulators-of-neuronal-excitability
#12
Christiane K Bauer, Jürgen R Schwarz
Mammalian EAG (ether-à-go-go) channels are voltage-gated K+ channels. They are encoded by the KCNH gene family and divided into three subfamilies, eag (Kv10), erg (eag-related gene; Kv11) and elk (eag-like; Kv12). All EAG channel subtypes are expressed in the brain where they effectively modulate neuronal excitability. This Topical Review describes the biophysical properties of each of the EAG channel subtypes, their function in neurons and the neurological diseases induced by EAG channel mutations. In contrast to the function of erg currents in the heart where they contribute to repolarization of the cardiac action potential, erg currents in neurons are involved in the maintenance of the resting potential, setting of action potential threshold and frequency accommodation...
January 15, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29333567/predictors-for-intracranial-hemorrhage-following-intravenous-thrombolysis-in-posterior-circulation-stroke
#13
Dorňák Tomáš, Král Michal, Sedláčková Zuzana, Šaňák Daniel, Čecháková Eva, Divišová Petra, Zapletalová Jana, Kaňovský Petr
Intravenous thrombolysis (IVT) is a standard treatment for anterior (ACS) and posterior circulation stroke (PCS). However, due to the low occurrence of PCS and of intracranial hemorrhage (ICH) in PCS, the knowledge about ICH predictors following IVT in PCS is sparse. Our aim was to identify predictors for ICH following IVT in PCS. The set consisted of 1281 consecutive ischemic stroke (IS) patients treated with IVT, out of which 158 (103 males; mean age 65.6 ± 12.3 years) had PCS. Collected data include baseline characteristics, common stroke risk factors, pre-medication, stroke severity, admission blood glucose level, blood pressure and treatment with intravenous antihypertensive therapy before and during IVT, occlusion of arteries, recanalization rate, time to treatment, and clinical outcome at day 90...
January 15, 2018: Translational Stroke Research
https://www.readbyqxmd.com/read/29333487/activation-of-the-medial-prefrontal-cortex-reverses-cognitive-and-respiratory-symptoms-in-a-mouse-model-of-rett-syndrome
#14
C James Howell, Michael P Sceniak, Min Lang, Wenceslas Krakowiecki, Fatimah E Abouelsoud, Saloni U Lad, Heping Yu, David M Katz
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2; Amir et al., 1999), a transcriptional regulatory protein (Klose et al., 2005). Mouse models of RTT (Mecp2 mutants) exhibit excitatory hypoconnectivity in the medial prefrontal cortex (mPFC; Sceniak et al., 2015), a region critical for functions that are abnormal in RTT patients, ranging from learning and memory to regulation of visceral homeostasis (Riga et al...
November 2017: ENeuro
https://www.readbyqxmd.com/read/29333421/brain-metastasis-from-colorectal-cancer-a-single-center-experience
#15
Dong-Yeop Kim, Chun-Geun Ryu, Eun-Joo Jung, Jin-Hee Paik, Dae-Yong Hwang
Purpose: The detection rate of brain metastasis (BM) from colorectal cancer (CRC) is increasing. This study was designed to analyze the clinical features of BM and prognosis according to the therapeutic modalities. Methods: A total of 19 cases were collected in this study between November 2008 and December 2015. We reviewed the patients' demographic data and the clinical features of BM retrospectively and investigated their prognostic significance. Results: Nineteen patients included 8 male and 11 female patients...
January 2018: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/29333031/a-case-of-multifocal-eosinophilic-granuloma-involving-spine-and-pelvis-in-a-young-adult-a-radiopathological-correlation
#16
Santosh Rai, H B Sridevi, Radha R Pai, Pulastya Sanyal
We present a case of multiple osteolytic lesions in a 28-year-old adult who presented with headache, back pain, and hip pain of 6 months. There was no history of localized swelling or rise of temperature, no history of weight loss or evening rise of temperature. On examination, there were no focal neurological deficits. Routine laboratory investigations, including total leukocyte counts, differential leukocyte counts, hemoglobin, and platelet counts, were within normal limits. There was a borderline elevation of erythrocyte sedimentation rate...
October 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/29332784/air-transport-of-a-patient-with-impending-cerebral-herniation-from-tension-pneumocephalus
#17
Etzer Augustin, Michael Karsy, Jim Bryan, Jian Guan, Richard H Schmidt
Tension pneumocephalus is a rare but dangerous complication of craniotomy, sinus surgery, and traumatic cranial injury. Compared with simple pneumocephalus, which often resolves spontaneously over the course of a few days, tension pneumocephalus tends to increase with ongoing cerebrospinal fluid leak and requires immediate neurosurgical treatment to prevent cerebral herniation. Air transport of patients with tension pneumocephalus for neurosurgical care entails a risk of neurologic worsening because of changes in ambient air pressure with altitude and cabin pressurization...
January 2018: Air Medical Journal
https://www.readbyqxmd.com/read/29332756/asymmetry-of-activation-of-lateral-abdominal-muscles-during-the-neurodevelopmental-traction-technique
#18
Anna Gogola, Rafał Gnat, Małgorzata Zaborowska, Dorota Dziub, Michalina Gwóźdź
OBJECTIVE: The aim of the study was to evaluate the symmetry and pattern of activation of lateral abdominal muscles (LAM) in response to neurodevelopmental traction technique. DESIGN AND PARTICIPANTS: Measurements of LAM thickness were performed in four experimental conditions: during traction with the force of 5% body weight (5% traction): 1) in neutral position, 2) in 20° posterior trunk inclination; during traction with the force of 15% body weight (15% traction): 3) in neutral position, 4) in 20° posterior trunk inclination...
January 2018: Journal of Bodywork and Movement Therapies
https://www.readbyqxmd.com/read/29332742/the-effects-of-dorso-lumbar-motion-restriction-on-emg-activity-of-selected-muscles-during-running
#19
Joseph J Morley, Edward Traum
The effects of restricting dorso-lumbar spine mobility on electromyographic activity of the erector spinae, quadriceps femoris, hamstrings and gastrocnemius muscles in runners was investigated. Thermoplastic casting material was fashioned into a rigid orthosis and used to restrict spinal motion during running. Volunteers ran on a treadmill at 2.78 m/sec, under normal conditions and with spinal motion restricted. Surface electromyographic data was collected during both sets of trials. Normal electromyographic data was also compared with previous authors to determine similarity with their electromyographic data...
January 2018: Journal of Bodywork and Movement Therapies
https://www.readbyqxmd.com/read/29332416/-autoimmune-encephalitis-possibilities-in-the-laboratory-investigation
#20
Katalin Böröcz, Zsófia Hayden, Viktória Mészáros, Zsuzsanna Csizmadia, Kornélia Farkas, Zoltán Kellermayer, Péter Balogh, Ferenc Nagy, Tímea Berki
INTRODUCTION: The role of autoimmune responses against central nervous system (CNS) antigens in encephalitis presenting with non-classified neurologic or psychiatric symptoms has been appreciated in the past decade. Paraneoplastic limbic encephalitis has a poor prognosis and is most commonly associated with lung, ovarium, and testicular neoplasms, leading to immune reactions against intracellular antigens (anti-Hu/ANNA1, anti-Ri/ANNA2, anti-CV2/CRMP5 and anti-Ma2/Ta). In contrast, the recently described autoimmune encephalitis subtypes present with a broad spectrum of symptoms, respond to autoimmune therapies well and usually associate with autoantibodies against neuronal cell surface receptors (NMDAR, GABABR, AMPAR) or synaptic proteins (LGI1, CASPR2)...
January 2018: Orvosi Hetilap
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