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Neurology; child neurology

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https://www.readbyqxmd.com/read/28097854/-citrullinemia-type-i-with-recurrent-liver-failure-in-a-child
#1
Verónica Bindi, Hernán Eiroa
Citrullinemia type I is an autosomal recessive disorder caused by mutation of the gene expressing ASS1 argininosuccinate synthetase, limiting enzyme of the urea cycle. The classic variants are associated with neonatal/infantile forms that cause hyperammonemia leading to death if treatment is not established. Initial symptoms of disorders of the urea cycle include neurological impairment with mild or moderate liver damage. We report a case of recurrent liver failure in an infant diagnosed with type I citrullinemia without severe neurological involvement that was referred to our center for liver transplantation...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28079875/early-postnatal-illness-severity-scores-predict-neurodevelopmental-impairments-at-10-years-of-age-in-children-born-extremely-preterm
#2
J W Logan, O Dammann, E N Allred, C Dammann, K Beam, R M Joseph, T M O'Shea, A Leviton, K C K Kuban
OBJECTIVE: A neonatal illness severity score, The Score for Neonatal Acute Physiology-II (SNAP-II), predicts neurodevelopmental impairments at two years of age among children born extremely preterm. We sought to evaluate to what extent SNAP-II is predictive of cognitive and other neurodevelopmental impairments at 10 years of age. STUDY DESIGN: In a cohort of 874 children born before 28 weeks of gestation, we prospectively collected clinical, physiologic and laboratory data to calculate SNAP-II for each infant...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28079790/ecthyma-gangrenosum-a-skin-manifestation-of-pseudomonas-aeruginosa-sepsis-in-a-previously-healthy-child-a-case-report
#3
Stephanie Biscaye, Diane Demonchy, Mickael Afanetti, Audrey Dupont, Herve Haas, Antoine Tran
RATIONALE: Ecthyma gangrenosum (Eg) is a necrotic lesion that is mostly seen in immunocompromised patients. It reflects a severe sepsis, possibly caused by Pseudomonas aeruginosa (Pa). PATIENT CONCERNS: A healthy 3-year-old girl admitted to the Pediatric Emergency Department presented a sepsis-associated purpura with neurological and respiratory distress. INTERVENTIONS: An empiric antibiotherapy (anti-meningococcal) was prescribed. DIAGNOSES: Forty-eight hours after admission, blood and wound cultures were positive for Pa...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28072705/posterior-only-vertebral-column-resection-for-revision-surgery-in-post-laminectomy-rotokyphoscoliosis-associated-with-late-onset-paraplegia-a-case-report-and-literature-review
#4
Youping Tao, Jigong Wu, Huasong Ma
RATIONALE: Severe post-laminectomy spinal deformity associated with late-onset paraplegia is a complex and rare disorder. Little is known about revision surgery in post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia treated by the single stage posterior-only vertebral column resection (VCR) procedure. PATIENT CONCERNS AND DIAGNOSES: The patient was a 14-year-old male diagnosed as post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28069981/child-neurology-neuromyelitis-optica-spectrum-disorders
#5
Michael J Bradshaw, NgocHanh Vu, Tracy E Hunley, Tanuja Chitnis
No abstract text is available yet for this article.
January 10, 2017: Neurology
https://www.readbyqxmd.com/read/28069620/prenatal-exposure-to-antiepileptic-drugs-and-use-of-primary-healthcare-during-childhood-a-population-based-cohort-study-in-denmark
#6
Anne Mette Würtz, Dorte Rytter, Claus Høstrup Vestergaard, Jakob Christensen, Mogens Vestergaard, Bodil Hammer Bech
OBJECTIVE: Prenatal exposure to antiepileptic drugs (AEDs) has been associated with adverse outcomes in the offspring such as congenital malformations and neuropsychiatric disorders. The objective of this study was to investigate whether prenatal exposure to AEDs is also associated with more frequent use of primary healthcare during childhood. DESIGN: Population-based cohort study. SETTING: Nationwide national registers in Denmark. PARTICIPANTS: All live-born singletons in Denmark during 1997-2012 identified in the Danish National Patient Register and followed until 31 December 2013 (n=963 010)...
January 5, 2017: BMJ Open
https://www.readbyqxmd.com/read/28064325/childhood-epilepsies-what-should-a-pediatrician-know
#7
Fahad A Bashiri
Seizures in children are among the most common neurological disorders. A pediatrician should know how to approach a child who presents with a seizure. This review will focus on points that are important in the evaluation of children who have experienced seizures. A comprehensive and neurologically focused framework for history taking and a thorough clinical examination are the cornerstones in diagnosing and managing seizures. This article reviews the clinical approach to the diagnosis, investigation, and management of epilepsy in children, excluding neonatal seizures...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28051825/pollution-the-thyroid-and-neurodevelopment
#8
G Ozzola
The global prevalence of neurodevelopmental diseases is on the rise. The number of autistic babies in the US has jumped from 1 in 68 to 1 in 42. Plus more and more children have attention disorders or hyperactivity disorders. The genetic causes of these disorders of neurological development cannot explain such radical increases in the incidence and this leads one to look for the culprit in other elements, many of which have been shown to disrupt normal thyroid function. For instance, many polluting chemical substances can interfere with thyroid hormone (TH) metabolism and this might lead to abnormalities in the neurological development of the fetus or the child...
November 2016: La Clinica Terapeutica
https://www.readbyqxmd.com/read/28051218/parental-satisfaction-of-an-assessment-unit-for-autistic-spectrum-disorders
#9
Arwa Ben Amor, Soumeyya Halayem, Maissa Touati, Ahlem Belhadj, Riadh Gouider, Ridha Mrad, Asma Bouden
Background - Based on the recognized principles of assessment of autistic disorders, the child and adolescent psychiatry department in Razi Hospital developed an assessment unit with diagnostic as well as therapeutic roles. The aim of this work was to examine its functioning and to analyze the parents' perceptions about the unit services. Methods - We gathered the parental satisfaction about the unit by the means of a hetero-questionnaire. Results - Fifty-two parents of children evaluated within the unit were included...
June 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/28050641/children-presenting-in-delayed-fashion-after-minor-head-trauma-with-scalp-swelling-do-they-require-further-workup
#10
Jonathan N Sellin, Amee Moreno, Sheila L Ryan, Sandi K Lam, Marcella Donaruma-Kwoh, Thomas G Luerssen, Andrew Jea
PURPOSE: It is common to evaluate children who have sustained minor head trauma with computed tomography (CT) of the head. Scalp swelling, in particular, has been associated with intracranial injury. A subset of patients, however, present in delayed fashion, often days after the head trauma, as soft tissue edema progresses and their caregiver notices scalp swelling. We explore the value of further workup in this setting. METHODS: We conducted a retrospective review of a prospectively collected cohort of children ≤24 months of age presenting to the Texas Children's Hospital with scalp swelling more than 24 h following a head trauma...
January 3, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28044203/advances-with-neonatal-aerodigestive-science-in-the-pursuit-of-safe-swallowing-in-infants-invited-review
#11
Sudarshan R Jadcherla
Feeding, swallowing, and airway protection are three distinct entities. Feeding involves a process of sequential, neurosensory, and neuromotor interactions of reflexes and behaviors facilitating ingestion. Swallowing involves anterograde bolus movement during oral-, pharyngeal-, and esophageal phases of peristalsis into stomach. During these events, coordination with airway protection is vital for homeostasis in clearing any material away from airway vicinity. Neurological-airway-digestive inter-relationships are critical to the continuum of successful feeding patterns during infancy, either in health or disease...
January 2, 2017: Dysphagia
https://www.readbyqxmd.com/read/28043238/recurrent-ataxia-in-children-and-adolescents
#12
Michael S Salman, Samantha F Klassen, Janine L Johnston
BACKGROUND: Recurrent ataxia is encountered infrequently in clinical pediatric neurology practise and presents with diagnostic challenges. It is caused by several disorders. Our aims were to describe the epidemiology and clinical features in children with recurrent ataxia. MATERIALS AND METHODS: A retrospective review was undertaken in 185 children with chronic ataxia, who presented during 1991 to 2008. Several databases were searched to ensure optimum ascertainment...
January 3, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28041665/should-extracorporeal-membrane-oxygenation-be-offered-an-international-survey
#13
Kevin W Kuo, Ryan P Barbaro, Samir K Gadepalli, Matthew M Davis, Robert H Bartlett, Folafoluwa O Odetola
OBJECTIVES: To assess the current attitudes of extracorporeal membrane oxygenation (ECMO) program directors regarding eligibility for ECMO among children with cardiopulmonary failure. STUDY DESIGN: Electronic cross-sectional survey of ECMO program directors at ECMO centers worldwide within the Extracorporeal Life Support Organization directory (October 2015-December 2015). RESULTS: Of 733 eligible respondents, 226 (31%) completed the survey, 65% of whom routinely cared for pediatric patients...
December 30, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/28028451/diagnostic-and-clinical-management-of-skull-fractures-in-children
#14
Christoph Arneitz, Maria Sinzig, Günter Fasching
OBJECTIVE: The indications of routine skull X-rays after mild head trauma are still in discussion, and the clinical management of a child with a skull fracture remains controversial. The aim of our retrospective study was to evaluate our diagnostic and clinical management of children with skull fractures following minor head trauma. METHODS: We worked up the medical history of all consecutive patients with a skull fracture treated in our hospital from January 2009 to October 2014 and investigated all skull X-rays in our hospital during this period...
2016: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/28025896/challenges-in-implementation-of-the-new-accreditation-system
#15
Terri B Feist, Julia L Campbell, Julie A LaBare, Donald L Gilbert
Despite major changes in US Graduate Medical Education, from Core Competencies (2002) to the Next Accreditation System (2012), few studies have evaluated the role of the Residency Coordinator in program accreditation. This role may be especially challenging in child neurology, which involves separate, accredited child and adult neurology residencies. The present study of Child Neurology Program Coordinators evaluated workforce factors and first-year implementation of new training requirements. The response rate was 65% (48/74)...
January 1, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/28025403/child-neurology-sj%C3%A3-gren-larsson-syndrome
#16
Madhu Nagappa, Parayil S Bindu, Shwetha Chiplunkar, Neelesh Gupta, Sanjib Sinha, Pavagada S Mathuranath, Rose D Bharath, Arun B Taly
No abstract text is available yet for this article.
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/28018439/phelan-mcdermid-syndrome-presenting-with-developmental-delays-and-facial-dysmorphisms
#17
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28017711/evaluation-of-the-hypothesis-that-choking-alte-may-mimic-abusive-head-trauma
#18
Jennifer B Hansen, Terra Frazier, Mary Moffatt, Timothy Zinkus, James D Anderst
OBJECTIVE: Apparent life-threatening events (ALTEs), often accompanied by choking, have been hypothesized to cause subdural hemorrhages (SDH), retinal hemorrhages, and brain injury. If the choking/ALTE hypothesis were true, children who present with ALTE and SDH would have fewer extracranial injuries suspicious for abuse than those with SDH and no ALTE. We aimed to compare the prevalence of suspicious extracranial injuries in children who have ALTE-associated SDH to those with non-ALTE SDH...
December 22, 2016: Academic Pediatrics
https://www.readbyqxmd.com/read/28013254/stroke-in-pediatric-diabetic-ketoacidosis-case-series
#19
Chandrika Azad, Ravinder Kaur, Dharmendra Kumar Singh, Adhi Arya
Diabetic ketoacidosis (DKA) can present with various neurological complications, but stroke is rare. Here, we present three children with recent-onset diabetes with DKA, two of them had deep coma not responding to standard DKA regimen and the third one had seventh nerve palsy noted after recovering from coma. Computed tomography scan of head showed hemorrhage in the area of midbrain in one patient and infarcts in two patients. In any child of DKA with severe neurological impairment, possibility of stroke should be entertained...
December 24, 2016: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/27999716/primary-cerebral-echinoccocosis-in-a-child-case-report-surgical-technique-technical-pitfalls-and-video-atlas
#20
Ahmed M A Altibi, Raed A H Qarajeh, Telmo A B Belsuzarri, Walid Maani, Tareq M A Kanaan
BACKGROUND: Hydatid disease is a life-threatening parasitic infestation caused by Echinococcus granulosus. Infection with E. granulosus typically results in the formation of hydatid cysts in the liver, lungs, kidney, and spleen. Primary intracranial hydatid cyst disease is extremely rare. Here, we are reporting an unusual case of Echinococcus, where the only identifiable lesion was a hydatid cyst in the brain without liver or lung involvement. We are also providing a description for the surgical technique used to remove the cyst, highlighting the possible surgical pitfalls...
2016: Surgical Neurology International
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