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Child neurology

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https://www.readbyqxmd.com/read/27908656/child-neurology-residency-finding-the-right-fit
#1
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
#2
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
#3
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
#4
J Domínguez-Carral, F 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 24, 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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/27876395/massive-lamotrigine-poisoning-a-case-report
#9
Salvatore Grosso, Silvia Ferranti, Carla Gaggiano, Elisabetta Grande, Barbara Loi, Rosanna Di Bartolo
Lamotrigine (LTG) represents the most commonly prescribed of the so-called new generation antiepileptic drugs. We describe a child who was admitted to the emergency room because of generalized tonic-clonic status epilepticus followed by a complex neurological picture with hyperkinesia and acute ataxia as a result of a LTG intoxication. The experience on acute LTG intoxication is very limited in pediatrics. The present case provides information on the clinical picture related to LTG overdose and confirms that drug intoxications should be considered in the differential diagnosis strategy when severe and polymorphic neurological symptoms occur acutely...
November 19, 2016: Brain & Development
https://www.readbyqxmd.com/read/27875839/severe-metabolic-acidosis-and-hepatopathy-due-to-leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate
#10
Elizabeth A Sellars, Tonya Balmakund, Katherine Bosanko, Brandi L Nichols, Stephen G Kahler, Yuri A Zarate
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a recently described autosomal recessive mitochondrial disease characterized by early onset of neurological symptoms, a biphasic clinical course, and distinctive neuroimaging. Pathogenic variants in the EARS2 gene that encode for mitochondrial glutamyl-tRNA synthetase are responsible for LTBL. Here, we describe the clinical course of an infant diagnosed with an acute crisis of LTBL and severe liver disease. This article illustrates the utility of blood lactate quantification in addition to basic metabolic testing and brain imaging in a child with low tone and poor growth...
November 22, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27872228/child-neurology-diencephalic-syndrome-like-presentation-of-a-cervicomedullary-brainstem-tumor
#11
Melanie Conway, Resham Ejaz, Elizabeth Kouzmitcheva, Deena Savlov, James T Rutka, Mahendranath Moharir
Diencephalic syndrome is a rare clinical entity, traditionally encompassing severe failure to thrive, nystagmus, and hyperkinesis, secondary to an intracranial neoplasm that is classically located in the hypothalamic region and its vicinity. However, the presenting features can be variable, often resulting in delayed diagnosis, which may worsen prognosis. This case report describes the atypical presentation of a posterior fossa tumor with features reminiscent of diencephalic syndrome that have not previously been reported in the literature...
November 22, 2016: Neurology
https://www.readbyqxmd.com/read/27872179/anti-n-methyl-d-aspartate-nmda-receptor-encephalitis-a-survey-of-treatment-progress-and-prospects-from-pediatric-neurologists
#12
Ilana Kahn, Guy Helman, Adeline Vanderver, Elizabeth Wells
Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis has been shown to be a treatable form of autoimmune encephalitis, but there remains no standardized approach to immunotherapy. We designed an anonymous survey sent to members of the Child Neurology Society to identify the current practices among child neurologists. A total of 151 pediatric neurologists responded to the survey. With these responses we were able to highlight areas of practice uniformity, including first-line treatment with intravenous immunoglobulin and intravenous methylprednisone and initiation of disease-modifying therapy with rituximab alone...
November 21, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27870204/bengt-hagberg-1923-2015-swedish-father-of-child-neurology
#13
Mårten Kyllerman
No abstract text is available yet for this article.
December 2016: Acta Paediatrica
https://www.readbyqxmd.com/read/27865250/are-children-as-relatives-our-responsibility-how-nurses-perceive-their-role-in-caring-for-children-as-relatives-of-seriously-ill-patients
#14
Marie Golsäter, Maria Henricson, Karin Enskär, Susanne Knutsson
PURPOSE: The purpose of this study was to elucidate how nurses perceive their role in caring for children as relatives to a parent with a serious physical illness. METHOD: A qualitative explorative design with focus group interviews was used. In total, 22 nurses working at one neurological, one haematological and two oncological wards were interviewed. The transcripts from the interviews were analysed in steps in accordance with inductive qualitative content analysis...
December 2016: European Journal of Oncology Nursing: the Official Journal of European Oncology Nursing Society
https://www.readbyqxmd.com/read/27858699/adolescent-lumbar-disc-herniation-impact-diagnosis-and-treatment
#15
Mustafa Karademir, Olcay Eser, Ergün Karavelioglu
BACKGROUND: Symptomatic lumbar intervertebral disc herniation (LDH) is rare in children and adolescents. To date, the treatments available for child and adolescent LDH, and the effect of each treatment, have not been fully reviewed. OBJECTIVE: The purpose of this retrospective study is to report the etiology, familial history, presenting symptoms, level of herniation, duration of symptoms, radiological findings, as well as treatment methods and outcome. METHODS: We retrospectively reviewed medical records of all patients with inclusion criteria of being younger than 20 years...
November 11, 2016: Journal of Back and Musculoskeletal Rehabilitation
https://www.readbyqxmd.com/read/27857805/neuropsychiatric-phenotype-in-a-child-with-pseudohypoparathyroidism
#16
Paola Visconti, Annio Posar, Maria Cristina Scaduto, Angelo Russo, Federica Tamburrino, Laura Mazzanti
Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disease characterized by end-organ resistance to parathyroid hormone. In adulthood, heterogeneous neurological and psychiatric disorders have been reported which are associated with hypoparathyroidism in general and with PHP in particular, while for childhood, data are scanty. We report a case of a boy with PHP type 1b, in whom neurological signs at the onset prevailed, characterized by tic-like dyskinesias associated with a series of heterogeneous not well-defined neurological and behavioral features, describing the diagnostic work-up performed and the follow-up...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27857802/giant-melanocytic-nevi-with-neurocutaneous-melanosis-masquerading-as-neurofibromas
#17
Vykuntaraju K Gowda, Anita Basude, Sahana M Srinivas, Maya Bhat
Neurocutaneous melanosis is congenital melanocytic nevus with neurological manifestations. We report a 4-year-old female child presenting with hyperpigmented and nodular skin lesion associated with developmental delay and convulsions. The child had multiple brownish-black nevi on the face and chest and giant melanocytic nevi on thoraco-abdomen, back, and gluteal region. Computed tomography scan of the brain showed calcification in the pons, right cerebellar hemisphere, and left medial temporal lobe. Skin biopsy done from nodular hyperpigmented site was suggestive of melanocytic nevi...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27857794/a-rare-case-of-white-pearls-in-brainstem
#18
Dipanker Singh Mankotia, Vivek Tandon, Hardik Sardana, Madhu Rajeshwari, Vaishali Suri, Bhawani Shankar Sharma
Intrinsic brainstem epidermoid is extremely rare, and only 14 cases have been reported. Authors report a classic case of brainstem epidermoid in a 14-year-old male child presenting with symptoms of brainstem involvement. The child underwent a successful surgical excision. The lesion was intrinsic and caused diagnostic dilemma based on conventional radiological images. Based on our experience in this case and a thorough review of literature, we are of the opinion that diffusion-weighted images are very important in establishing the diagnosis...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27855235/sirolimus-therapy-in-a-child-with-partially-diazoxide-responsive-hyperinsulinaemic-hypoglycaemia
#19
Kah-Yin Loke, Andrew Sng Anjian, Yvonne Lim Yijuan, Cindy Ho Wei Li, Maria Güemes, Khalid Hussain
: Hyperinsulinaemic hypoglycaemia (HH), which causes persistent neonatal hypoglycaemia, can result in neurological damage and it's management is challenging. Diazoxide is the first-line treatment, albeit not all patients will fully respond to it, as episodes of hypoglycaemia may persist and it entails unpleasant adverse effects. Sirolimus, an mTOR inhibitor, has reportedly been successful in treating children with severe diffuse HH, thus obviating the need for pancreatectomy. We report a girl with HH, with a novel heterozygous ABCC8 gene missense mutation (c...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27852581/management-of-children-and-young-people-with-vision-impairment-diagnosis-developmental-challenges-and-outcomes
#20
REVIEW
Sue Keil, Alistair Fielder, Jenefer Sargent
Vision impairment (VI) has a significant impact on an individual's ability to engage with everyday tasks. Severe early-onset VI presents different challenges to adult onset visual loss since reduced visual input presents a major obstacle to the acquisition and development of fundamental developmental skills in early and later childhood. Early referral of the child with reduced vision is vital to ensure accurate diagnosis and prompt treatment of any modifiable aspects of the condition. Guidance to ensure optimisation of developmental opportunity through adaptation of play and care is vital from the earliest stages...
November 16, 2016: Archives of Disease in Childhood
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