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Neurology; child neurology

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https://www.readbyqxmd.com/read/27935825/microglia-activation-in-a-pediatric-rabbit-model-of-tuberculous-meningitis
#1
Elizabeth W Tucker, Supriya Pokkali, Zhi Zhang, Vincent P DeMarco, Mariah Klunk, Elizabeth S Smith, Alvaro A Ordonez, Marie-France Penet, Zaver Bhujwalla, Sanjay K Jain, Sujatha Kannan
Central nervous system (CNS) tuberculosis (TB) is the most severe form of extra-pulmonary TB and disproportionately affects young children where the developing brain has a unique host response. New Zealand white rabbits were infected with Mycobacterium tuberculosis via subarachnoid inoculation at postnatal day 4-8 and evaluated until 4-6 weeks post-infection. Control and infected rabbit kits were assessed for the development of neurological deficits, bacterial burden, and postmortem microbiologic and pathologic changes...
December 1, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/27935781/the-neurotoxicity-of-general-anesthetic-drugs-emphasis-on-the-extremes-of-age
#2
Chuck Biddle, Vincent Ford
A substantial body of research suggests that anesthetic exposure to patients who are very young or very old may impair cognitive, behavioral, and emotional development or recovery. In lower animal models of pre- and postnatal age, anesthetic exposure may impact inflammation, synaptogenesis, neuronal apoptosis, and glial cell development. To date, research in humans is inconclusive regarding the long-term cognitive and behavioral sequelae of general anesthesia in the young child. In older adults, postoperative cognitive dysfunction and cognitive delirium are identified as markers of anesthetic neurotoxicity...
January 2017: Annual Review of Nursing Research
https://www.readbyqxmd.com/read/27935018/tolerability-and-efficacy-of-perampanel-in-children-with-refractory-epilepsy
#3
Eli Heyman, Eli Lahat, Noa Levin, Orna Epstein, Mirit Lazinger, Matitiahu Berkovitch, Revital Gandelman-Marton
AIM: There are few reports on the tolerability and efficacy of perampanel, a new antiepileptic drug with a novel mechanism of action, in children and adolescents. We aimed to describe our experience with perampanel add-on and mono-therapy in children with refractory epilepsy. METHOD: Computerized medical records of children treated with perampanel in the paediatric neurology clinic from December 2012 to October 2015 were reviewed. RESULTS: Twenty-four children treated with perampanel (15 females, 9 males) aged 1 year 6 months to 17 years (mean 10y, standard deviation [SD] 4y 5mo) were identified...
December 9, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27931048/neurodevelopment-and-health-related-quality-of-life-in-infants-born-with-gastroschisis-a-6-year-retrospective-french-study
#4
Barthelemy Tosello, Meriem Zahed, Floriane Guimond, Karine Baumstarck, Alice Faure, Fabrice Michel, Olivier Claris, Jerome Massardier, Catherine Gire, Thierry Merrot
Introduction Quantify quality of life (QoL) outcomes in gastroschisis children is little assessed. The primary objective was to describe the long-term outcome of newborns with gastroschisis treated in three tertiary care hospitals of France in terms of neurodevelopment and QoL. Materials and Methods The study reported was a cross-sectional, descriptive multicentric retrospective study assessing the outcome of newborns with gastroschisis, born between January 1, 2009, and December 31, 2014, treated at two large and French level III neonatal intensive care units...
December 8, 2016: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27930565/a-case-report-with-the-peculiar-concomitance-of-2-different-genetic-syndromes
#5
Alberto Lerario, Irene Colombo, Donatella Milani, Lorenzo Peverelli, Luisa Villa, Roberto Del Bo, Monica Sciacco, Giacomo Pietro Comi, Susanna Esposito, Maurizio Moggio
RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27928411/visual-impairment-due-to-lissencephaly
#6
V E Marqués-Fernández, H Sánchez-Tocino, M T Escudero-Caro, R Cancho-Candela, M García-Zamora
Lissencephaly is a rare disorder due to abnormal neural migration, causing neurological impairment and clinically characterised by mental retardation and epilepsy. Any disturbance of the visual pathway can cause loss of vision. The authors describe a case of a 6-year-old boy referred to the ophthalmologist presenting poor bilateral vision. This child had no other known medical conditions, and neurological examination was completely normal. Only when a magnetic resonance imaging was made that a lissencephaly-pachygyria with band heterotopia mostly occipital was noted...
October 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27923230/skull-subsidence-due-to-periosteum-defect-following-craniotomy-in-a-child
#7
Hidetaka Arishima, Ayumi Akazawa, Ken-Ichiro Kikuta
We report a case of a 7-year-old child with a cranial deformity secondary to a craniotomy for an intracranial hematoma. He suffered from an acute epidural hematoma with a lineal fracture of the right temporal bone following a severe head injury. A large question mark-shaped skin flap with the periosteum and temporal muscle was created for a decompressive craniectomy; however, neither the acute epidural hematoma nor brain swelling was severe, and we performed a small craniotomy compared with the skin flap without a decompressive craniectomy...
December 7, 2016: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27919499/quality-of-life-and-its-correlates-in-adolescent-multiple-sclerosis-patients
#8
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/27919116/stylohyoid-complex-eagle-syndrome-starting-in-a-9-year-old-boy
#9
Maite Gárriz-Luis, Pablo Irimia, Juan M Alcalde, Pablo Domínguez, Juan Narbona
Background There are only four previous pediatric reports of the glossopharyngeal neuralgic form of the stylohyoid complex syndrome. Stylohyoid complex has merely been described as cases of glossopharyngeal neuralgia in children. Case Report A 12-year-old boy came to our hospital because of recurrent episodes of severe cranial pain (9/10) lasting for 5 to 15 minutes. Pain affected the right tonsillar fossa, ear, and mastoid region. Since the start at the age of 9 years, the frequency of painful episodes has progressively increased: when admitted to our clinics 3 years later, the child was having up to five episodes daily in spite of analgesic, antiepileptic, and antidepressant drugs; he had abandoned school and leisure...
December 5, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27918377/utility-of-emergency-department-observation-units-for-neurologically-intact-children-with-head-ct-abnormalities-secondary-to-acute-closed-head-injury
#10
Roxanna Lefort, Jill V Hunter, Andrea T Cruz, A Chantal Caviness, Thomas G Luerssen, Aderonke Adekunle-Ojo
OBJECTIVE: The aim of the study was to evaluate the utility of the emergency department observation unit (EDOU) for neurologically intact children with closed head injuries (CHIs) and computed tomography (CT) abnormalities. METHODS: A retrospective cohort study of children aged 0 to 18 years with acute CHI, abnormal head CT, and a Glasgow Coma Scales score of 14 or higher admitted to the EDOU of a tertiary care children's hospital from 2007 to 2010. Children with multisystem trauma, nonaccidental trauma, and previous neurosurgical or coagulopathic conditions were excluded...
December 1, 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27918309/intraoperative-presentation-of-malignant-hyperthermia-confirmed-by-ryr1-gene-mutation-c-7522c-t-p-r2508c-leads-to-diagnosis-of-king-denborough-syndrome-in-a-child-with-hypotonia-and-dysmorphic-features
#11
Mark R Joseph, Mary C Theroux, James J Mooney, Shawn Falitz, Barbara W Brandom, Debra L Byler
We present the novel case report of a child with hypotonia and dysmorphic features who developed malignant hyperthermia (MH) intraoperatively. Neurology workup revealed the presence of a known causative ryanodine receptor (RYR1) mutation for MH, c.7522C>T; p.R2508C. Furthermore, the neurology workup diagnosed the child with King-Denborough syndrome (KDS). This particular mutation has never been documented in a patient with KDS. Atypical presentation of MH is more likely in patients with RYR1-related myopathy...
December 1, 2016: A & A Case Reports
https://www.readbyqxmd.com/read/27915463/the-our-hope-approach-for-ethics-and-communication-about-neonatal-neurological-injury
#12
REVIEW
Eric Racine, Emily Bell, Barbara Farlow, Steven Miller, Antoine Payot, Lisa Anne Rasmussen, Michael I Shevell, Donna Thomson, Pia Wintermark
Predicting neurological outcomes of neonates with acute brain injury is an essential component of shared decision-making, in order to guide the development of treatment goals and appropriate care plans. It can aid parents in imagining the child's future, and guide timely and ongoing treatment decisions, including shifting treatment goals and focusing on comfort care. However, numerous challenges have been reported with respect to evidence-based practices for prognostication such as biases about prognosis among clinicians...
December 4, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27908656/child-neurology-residency-finding-the-right-fit
#13
Jonathan D Santoro, Paul G Fisher
No abstract text is available yet for this article.
November 1, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#14
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27895694/edentulous-child-with-allgrove-syndrome-a-rare-case-report
#15
Mohammad Vahedi, Shima Fathi, Hanif Allahbakhshi
Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first manifestation of the triple-A syndrome; however, its etiology is unclear. Alacrima is generally asymptomatic but can be detected by obtaining patient history. Although adrenal insufficiency could have manifestations such as asthenia, it might be wrongly diagnosed as muscle fatigue. Vitamin D and calcium supplements are usually prescribed for the prevention of osteoporosis...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27890788/genetic-testing-among-spanish-pediatric-neurologists-knowledge-attitudes-and-practices
#16
J Domínguez-Carral, J López-Pisón, A Macaya, M Bueno Campaña, M A García-Pérez, D Natera-de Benito
Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months...
November 25, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27887934/currarino-syndrome-in-a-fetus-infant-child-and-adolescent-spectrum%C3%A2-of-clinical-presentations-and-imaging-findings
#17
REVIEW
Pablo Caro-Domínguez, Juan Bass, Julie Hurteau-Miller
In 1981, Currarino et al described a triad of findings that consist of partial sacral dysgenesis, presacral mass (anterior meningocele, enteric cyst, or presacral teratoma) and anorectal malformation. Currarino syndrome exhibits variable expressivity and the clinical presentation tends to vary with the age of the subject such as spinal anomaly detected in the fetus, imperforate anus in the newborn, and intractable constipation or neurologic symptoms in the infant and older child. At any age, meningitis can be the presenting symptom and imaging is required for proper investigation...
November 22, 2016: Canadian Association of Radiologists Journal, Journal L'Association Canadienne des Radiologistes
https://www.readbyqxmd.com/read/27886192/phytanic-acid-attenuates-insulin-like-growth-factor-1-activity-via-nitric-oxide-mediated-%C3%AE-secretase-activation-in-rat-aortic-smooth-muscle-cells-possible-implications-for-pathogenesis-of-infantile-refsum-disease
#18
Gursev S Dhaunsi, Mayra Alsaeid, Saghir Akhtar
BACKGROUND: Infantile Refsum disease (IRD), a peroxisomal disease with defective phytanic acid oxidation, causes neurological impairment and development delay. Insulin-like growth factor-1 (IGF-1) regulates child development and to understand molecular mechanism(s) of IRD, we examined the effect of PA on IGF-1 activity. METHODS: BrdU incorporation was measured in rat aortic smooth muscle cell (SMC) cultures following treatment with fetal bovine serum (FBS), basic fibroblast growth factor (bFGF), platelet-derived growth factor (PDGF) or IGF-1 in the absence or presence of PA...
November 25, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27885286/immediate-outcome-of-hypoxic-ischaemic-encephalopathy-in-hypoxiate-newborns-in-nepal-medical-college
#19
S Shrestha, G S Shrestha, A Sharma
BACKGROUND: Birth asphyxia is the fifth major cause of under-five child deaths after pneumonia, diarrhoea, neonatal infections and complications of preterm birth. It is one of the important causes of neonatal mortality and morbidity accounting up to 30% of neonatal death in Nepal. It is also an important cause of long-term neurological disability and impairment. The mortality rate due to birth asphyxia is considered a good guide to the quality of perinatal care. This study was conducted to assess the rate of birth asphyxia, risk factors and outcome of the babies who were asphyxiated at birth...
May 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/27884168/ataxia-telangiectasia-a-review
#20
REVIEW
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
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