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Neurology; child neurology

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https://www.readbyqxmd.com/read/28542837/phenotype-and-natural-history-of-variant-late-infantile-ceroid-lipofuscinosis-5
#1
Alessandro Simonati, Ruth E Williams, Nardo Nardocci, Minna Laine, Roberta Battini, Angela Schulz, Barbara Garavaglia, Francesca Moro, Francesco Pezzini, Filippo M Santorelli
AIM: To characterize the phenotypic profile of a cohort of children affected with CLN5, a rare form of neuronal ceroid-lipofuscinosis (NCL), and to trace the features of the natural history of the disease. METHOD: Records of 15 children (nine males, six females) were obtained from the data sets of the DEM-CHILD International NCL Registry. Disease progression was measured by rating six functional domains at different time points along the disease course. All patients underwent mutation analysis of the CLN5 gene and ultrastructural investigations of peripheral tissues...
May 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28536839/maternal-fetal-surgery-for-myelomeningocele-some-thoughts-on-ethical-legal-and-psychological-issues-in-a-western-european-situation
#2
Frank Van Calenbergh, Luc Joyeux, Jan Deprest
BACKGROUND: The results of the Management of Myelomeningocele Study (MOMS) randomized controlled trial have demonstrated that maternal-fetal surgery (MFS) for myelomeningocele (MMC) compared to postnatal MMC repair has clear neurological benefits for the child at 12 and 30 months of age. Level I evidence nevertheless does not provide answers to many questions in this delicate field. Since the beginning of 2012, our fetal center has been offering MFS for spina bifida aperta (SBA) to patients from different European and non-European countries, in a societal context where termination of pregnancy is the option chosen by most patients when being informed of this diagnosis...
May 23, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28533353/child-neurology-lama2-muscular-dystrophy-without-contractures
#3
Marissa Dean, Salman Rashid, William Kupsky, Steven A Moore, Huiyuan Jiang
No abstract text is available yet for this article.
May 23, 2017: Neurology
https://www.readbyqxmd.com/read/28527720/overactive-bladder-oab-a-symptom-in-search-of-a-disease-its-relationship-to-specific-lower-urinary-tract-symptoms-and-conditions
#4
Jason P Van Batavia, Andrew J Combs, Angela M Fast, Kenneth I Glassberg
BACKGROUND: The ICCS defines OAB by the subjective symptom of urgency; detrusor overactivity (DO) is only implied. While no other symptom is required, OAB can also be associated with urinary frequency, decreased functional bladder capacity, and incontinence. OBJECTIVE: We sought to determine how often these associated findings occur in OAB and what if any uroflow/EMG-defined conditions are found to be associated with it. METHODS: The charts of 548 children (231M, 318F; mean age 9...
March 10, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28526461/-anesthesia-in-a-child-operated-for-cleft-lip-associated-with-patau-s-syndrome
#5
Manoj Kamal, Don Varghese, Jeet Bhagde, Geeta Singariya, Annie Miju Simon, Amar Singh
Patients with Patau's syndrome (Trisomy 13) have multiple craniofacial, cardiac, neurological and renal anomalies with very less life expectancy. Among craniofacial anomalies cleft lip and palate are common. These craniofacial and cardiac anomalies present difficulties with anesthesia. We therefore describe the anesthetic management in the case of a Trisomy 13 child for operated for cleft lip at 10 months of age.
May 16, 2017: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/28524212/-infantile-acquired-brain-injury-a-personal-experience-demands-from-the-socio-familial-point-of-view
#6
P Pastor-Alfonso
We report on the experience of a family in which the youngest child has acquired brain injury and the struggle undertaken by the family to improve the neurorehabilitation resources in the public health service. The article outlines the main demands, from the socio-familial point of view, as regards the improvement of neurological rehabilitation and the resources needed to deliver it.
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28516217/prenatal-surgery-for-myelomeningocele-review-of-the-literature-and-future-directions
#7
Gregory G Heuer, Julie S Moldenhauer, N Scott Adzick
Open spina bifida or myelomeningocele (MMC) is one of the most common serious congenital malformations. Historically, this condition has been treated with closure of the MMC defect shortly after birth. The goal of postnatal closure is to cover the exposed spinal cord and prevent infection. However, postnatal surgery does not reverse or prevent the neurologic injury seen in MMC, reverse hindbrain herniation, or prevent hydrocephalus. The neurologic defects result from primary incomplete neurulation and secondary chronic prenatal damage to the exposed neural elements through mechanical and chemical trauma...
May 17, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28508919/cognitive-development-of-school-age-hypoplastic-left-heart-syndrome-survivors-a-single-center-study
#8
REVIEW
Raphael D Oberhuber, Sonja Huemer, Rudolf Mair, Eva Sames-Dolzer, Michaela Kreuzer, Gerald Tulzer
Neurological and radiologic research results show an abnormal cerebral microstructure as well as abnormal neurodevelopment in patients treated for hypoplastic left heart syndrome. The aim of this study was to assess the varying cognitive performance these children have developed in dependence upon prenatal diagnosis, surgical techniques, surgical learning effects, anatomy, perfusion techniques, gender, pedagogic, and sociodemographic parameters in comparison to age-adjusted normative values. School-age children (6...
May 16, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28508696/a-bibliometric-analysis-of-occupational-therapy-publications
#9
Ted Brown, Sharon A Gutman, Yuh-Shan Ho, Kenneth N K Fong
BACKGROUND: Bibliometrics involves the statistical analysis of the publications in a specific discipline or subject area. A bibliometric analysis of the occupational therapy refereed literature is needed. AIM: A bibliometric analysis was completed of the occupational therapy literature from 1991-2014, indexed in the Science Citation Index-Expanded or the Social Sciences Citation Index. METHOD: Publications were searched by title, abstract, keywords, and KeyWords Plus...
May 16, 2017: Scandinavian Journal of Occupational Therapy
https://www.readbyqxmd.com/read/28503314/atypical-teratoid-rhabdoid-tumor-of-lumbar-spine-in-a-toddler-child
#10
Min Fang Chao, Yu-Feng Su, Twei-Shiun Jaw, Shyh-Shin Chiou, Chih-Hung Lin
BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare pediatric central nervous system malignancy with poor outcome. AT/RT is infrequently located in the spinal cord. CLINICAL PRESENTATION: A 16-month-old boy presented with progressive urinary retention and weakness of the lower extremities. Magnetic resonance imaging of the spine revealed an intradural extramedullary mass occupying the spinal canal at the level of T10-L3. The tumor was successfully resected by using neuroendoscopy...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28503271/pulled-nursemaid-s-elbow
#11
M F Mohd Miswan, M S Othman, F Muhamad Effendi, M I Ibrahim, K N Rozali
Nursemaid's elbow is a radial head subluxation caused by axial traction on the extended arm while the forearm is pronated, allowing for slippage of the radial head. A 2-year-old boy presented with pain, swelling and reduced range of movement of the right elbow for 4 days. The mother noted that the child was moving the right upper limb less often and there was tenderness over the right elbow. X-ray of the right elbow showed subluxation of the elbow joint with no obvious fracture. A trial of conservative management was decided upon and the patient was placed on a right elbow backslab with the right forearm in a supine position...
2017: Malaysian Family Physician
https://www.readbyqxmd.com/read/28495940/neuroimaging-changes-in-menkes-disease-part-2
#12
REVIEW
R Manara, M C Rocco, L D'agata, R Cusmai, E Freri, L Giordano, F Dara, E Procopio, I Toldo, C Peruzzi, R Vittorini, A Spalice, C Fusco, M Nosadini, D Longo, S Sartori
This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration...
May 11, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28487434/fifteen-minute-consultation-practical-pain-management-in-paediatric-palliative-care
#13
Emily Jane Harrop, Karen Brombley, Katherine Boyce
Pain and distress in the paediatric palliative care population can be very difficult to manage. Clinical scenarios range from the acute management of cancer-related pain at the end of life to the ongoing long-term support of children with complex multimodal pain related to progressive neurological conditions. Understanding the child's underlying condition, possible causes of pain and their preferred mode of communication are important to the delivery of holistic care. Modification of environmental factors, basic care consideration and non-pharmacological measures have a large role to play, alongside conventional analgesics...
May 9, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28486264/temporary-seizure-in-an-infant-who-had-been-exposed-to-g-amino-butyric-acid-receptor-antagonist-thiocolchicoside
#14
Cengiz Havali, Kivilcim Gucuyener, Esra Gurkas, Ercan Demir
Seizure is the most common presentation of neurological disorder in the pediatric emergency care setting. In evaluating the child after a first seizure, the first consideration should be determining if the seizure was provoked or unprovoked. Investigation listing the causes of the first seizure is considerably long, and adverse drug reactions must be in mind. Epileptic seizures after using thiocolchicoside (TCC) have been reported in several adult patients with epilepsy and acute brain injury. We present a previously healthy 3-month-old female infant who was admitted to the emergency department with a generalized seizure after exposure to TCC...
May 8, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28484565/multiple-spinal-extradural-arachnoidal-cysts-an-uncommon-cause-of-thoracic-cord-compression
#15
Raghavendra Nayak, Anupkumar Chaudhuri, Shahid Sadique, Sanjeev Attry
Spinal extradural arachnoid cysts are one of the rare causes of symptomatic spinal cord compression. Among them, occurrence of multiple cysts at the same spinal segment is rarely described in the literature. They appear to be extradural outpouchings of arachnoid that communicate with the intraspinal sub-arachnoid space through a small defect in the dura, filled by cerebrospinal fluid. Pathogenesis of these lesions is still unclear. Surgical excision is considered as the gold standard treatment. We present a 7-year-old female child who presented with spastic paraparesis...
April 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28482737/erratum
#16
(no author information available yet)
Conrad AL, Goodwin JW, Choi, J, et al. The relationship of exposure to anesthesia on outcomes in children with isolated oral clefts. Journal of Child Neurology. 2017;32(3): 308-315. Original doi: 10.1177/0883073816681257 On pages 310 and 312, figures 1 and 2 were not appearing in the online version of the article. The subsequent online (PDF) version of this article has now been corrected.
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28479808/chiari-i-malformation-associated-with-turner-syndrome
#17
Kamble Jayaprakash Harsha, Jeevan S Nair
Turner syndrome (TS) is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation...
April 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28475458/mda5-associated-neuroinflammation-and-the-singleton-merten-syndrome-two-faces-of-the-same-type-i-interferonopathy-spectrum
#18
Insa Buers, Gillian I Rice, Yanick J Crow, Frank Rutsch
In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early loss of secondary dentition, and widened medullary cavities of the phalanges. In 1984, Aicardi and Goutières defined a phenotype resembling congenital viral infection with basal ganglia calcification and increased protein content in the cerebrospinal fluid. Between 2006 and 2012, mutations in 6 different genes were described to be associated with Aicardi-Goutières syndrome, specifically-TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ADAR, and SAMHD1...
May 2017: Journal of Interferon & Cytokine Research
https://www.readbyqxmd.com/read/28473948/purely-ligamentous-flexion-distraction-injury-in-a-five-year-old-child-treated-with-surgical-management
#19
Ryan M Schiedo, William Lavelle, Nathaniel R Ordway, Tarush Rustagi, Mike H Sun
Chance fractures by definition are a type of flexion-distraction injury with concomitant vertebral body fracture. Although uncommon in the pediatric population, they are associated with motor vehicle accidents and typically involve the thoraco-lumbar spine. Injury occurs when the spine rotates about a fixed axis, such as a lap belt. Our case reports the management of a five-year-old girl involved in a head-on collision who suffered a purely ligamentous flexion-distraction injury (Chance-type injury, without bone involvement) at the L2-L3 vertebral level...
April 3, 2017: Curēus
https://www.readbyqxmd.com/read/28473090/acr-appropriateness-criteria-%C3%A2-suspected-physical-abuse-child
#20
Sandra L Wootton-Gorges, Bruno P Soares, Adina L Alazraki, Sudha A Anupindi, Jeffrey P Blount, Timothy N Booth, Molly E Dempsey, Richard A Falcone, Laura L Hayes, Abhaya V Kulkarni, Sonia Partap, Cynthia K Rigsby, Maura E Ryan, Nabile M Safdar, Andrew T Trout, Roger F Widmann, Boaz K Karmazyn, Susan Palasis
The youngest children, particularly in the first year of life, are the most vulnerable to physical abuse. Skeletal survey is the universal screening examination in children 24 months of age and younger. Fractures occur in over half of abused children. Rib fractures may be the only abnormality in about 30%. A repeat limited skeletal survey after 2 weeks can detect additional fractures and can provide fracture dating information. The type and extent of additional imaging for pediatric patients being evaluated for suspected physical abuse depends on the age of the child, the presence of neurologic signs and symptoms, evidence of thoracic or abdominopelvic injuries, and social considerations...
May 2017: Journal of the American College of Radiology: JACR
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