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Neuropediatrics

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https://www.readbyqxmd.com/read/30235488/early-retinal-findings-following-cooling-in-neonatal-encephalopathy
#1
Mustafa Ali Akin, Ozlem Sahin, Murat Cansever, Ender Sirakaya, Nicola Jayne Robertson
BACKGROUND AND AIM:  Perinatal HI (hypoxia-ischemia)-related visual defects including blindness are known to be associated with ischemic lesions in intracerebral visual pathways and ischemic retinal damage (IRD). Intraocular hemorrhages (IOH) such as retinal hemorrhage (RH), which may result from perinatal HI, can cause IRD by various mechanisms. We aimed to evaluate the early retinal findings in neonates with moderate-to-severe neonatal encephalopathy (NE) who underwent TH and its relationship between coagulation status, amplitude-integrated electroencephalography (aEEG) patterns, and magnetic resonance imaging-magnetic resonance spectroscopy (MRI-MRS) findings...
September 20, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30223286/monitoring-criteria-of-intracranial-lesions-in-children-post-mild-or-moderate-head-trauma
#2
Coralie Jacquet, Sergio Boetto, Annick Sevely, Jean-Christophe Sol, Yves Chaix, Emmanuel Cheuret
Head injury is the most common cause of child traumatology. However, there exist no treatment guidelines in children having intracranial lesions due to minor or moderate head trauma. There is little knowledge about monitoring, clinical exacerbation risk factors, or optimal duration of hospitalization. The aim of this retrospective study is to find predictive factors in the clinical course of non-severe head trauma in children, and thus to determine an optimal management strategy. Poor clinical progress was observed in only 4 out of 113 children...
September 17, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30223285/rnaseh2b-pathogenic-gene-variant-in-uncomplicated-hereditary-spastic-paraplegia-report-of-a-new-patient
#3
Carlotta Spagnoli, Daniele Frattini, Grazia Gabriella Salerno, Carlo Fusco
No abstract text is available yet for this article.
September 17, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30199896/a-de-novo-missense-variant-in-pou3f2-identified-in-a-child-with-global-developmental-delay
#4
Dominik Sebastian Westphal, Korbinian Maria Riedhammer, Reka Kovacs-Nagy, Thomas Meitinger, Julia Hoefele, Matias Wagner
Many genetic and nongenetic causes for developmental delay in childhood could be identified. Often, however, the molecular basis cannot be elucidated. As next-generation sequencing is becoming more frequently available in a diagnostic context, an increasing number of genetic variations are found as causative in children with developmental delay.We performed trio exome sequencing in a girl with developmental delay and minor dysmorphological features. Using a filter for de novo variants, the heterozygous missense variant c...
September 10, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30199895/isolated-congenital-absence-of-cranial-nerves-report-of-two-cases
#5
Vivek Agarwal, Sameer Vyas, Sumeet R Dhawan, Naveen Sankhyan
Isolated cranial nerve absence is a rare condition that can be diagnosed using high-resolution cranial nerve magnetic resonance (MR) imaging. Thorough clinical examination with proper knowledge of the course of cranial nerves may help diagnose this rare condition. We describe two cases, one each of, isolated congenital absence of the third and seventh cranial nerve with their clinical presentation. High-resolution T2-weighted MR imaging was done in both patients which revealed absence of cisternal segment of the right-sided third nerve and cisternal with canalicular segment of the right-sided facial nerve...
September 10, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30165711/dominant-scn2a-mutation-causes-familial-episodic-ataxia-and-impairment-of-speech-development
#6
Walid Fazeli, Kerstin Becker, Peter Herkenrath, Christoph Düchting, Friederike Körber, Pablo Landgraf, Peter Nürnberg, Janine Altmüller, Holger Thiele, Anne Koy, Max C Liebau, Thorsten Simon, Jörg Dötsch, Sebahattin Cirak
Mutations in SCN2A are associated with a heterogeneous clinical spectrum including epilepsy and autism. Here, we have identified a peculiar phenotype associated with vaccination related exacerbations of ataxia. We report the first family with three individuals affected by SCN2A -associated episodic ataxia (EA) with impaired speech development. The index patient manifested his first episode of subacute cerebellar ataxia at the age of 12 months, 3 weeks after vaccinations for measles, mumps, rubella, and varicella...
August 30, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30165710/neurotrauma-and-critical-care-of-the-brain
#7
Rob Forsyth
No abstract text is available yet for this article.
August 30, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30114719/htra2-defect-a-recognizable-inborn-error-of-metabolism-with-3-methylglutaconic-aciduria-as-discriminating-feature-characterized-by-neonatal-movement-disorder-and-epilepsy-report-of-11-patients
#8
Reka Kovacs-Nagy, Gilles Morin, Maria Al Nouri, Oliver Brandau, Nebal Waill Saadi, Mohammed A Nouri, Florence van den Broek, Holger Prokisch, Johannes A Mayr, Saskia B Wortmann
Neonatal-onset movement disorders, especially in combination with seizures, are rare and often related to mitochondrial disorders. 3-methylglutaconic aciduria (3-MGA-uria) is a marker for mitochondrial dysfunction. In particular, consistently elevated urinary excretion of 3-methylglutaconic acid is the hallmark of a small but growing group of inborn errors of metabolism (IEM) due to defective phospholipid remodeling or mitochondrial membrane-associated disorders (mutations in TAZ , SERAC1 , OPA3 , CLPB , DNAJC19 , TMEM70 , TIMM50 )...
August 16, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30045381/pyruvate-carboxylase-deficiency-type-c-a-rare-cause-of-acute-transient-flaccid-paralysis-with-ketoacidosis
#9
Momen Almomen, Graham Sinclair, Sylvia G Stockler-Ipsiroglu, Gabriella A Horvath
Pyruvate carboxylase (PC) is a biotin-containing enzyme that is responsible for the adenosine triphosphate-dependent carboxylation of pyruvate to oxaloacetate, a key intermediate in the tricarboxylic acid cycle. PC deficiency (OMIM 266150) is a rare autosomal recessive metabolic disease, causing elevation of pyruvate, lactate, and alanine. Three types of PC deficiency have been described in the literature; A, B, and C. Type A PC deficiency, also called infantile or North American type, is characterized by infantile onset acidosis, failure to thrive, and developmental delay...
July 25, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30001564/epilepsy-in-biotinidase-deficiency-is-distinct-from-early-myoclonic-encephalopathy
#10
Ulviyya Guliyeva, Ilyas Okur, Olivier Dulac, Oktay Khalilov, Sugra Guliyeva
No abstract text is available yet for this article.
July 12, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29980148/secondary-bone-defect-in-neuromuscular-diseases-in-childhood-a-longitudinal-muscle-bone-unit-analysis
#11
C Ribstein, D Courteix, N Rabiau, C Bommelaer, Y Bourdeau, B Pereira, Catherine Sarret
To evaluate the potential bone defect in neuromuscular diseases, we conducted a longitudinal study including three groups of patients: 14 Duchenne muscular dystrophies (DMD) and 2 limb-girdle muscular dystrophies (LGMD); 3 Becker muscular dystrophies (BeMD) and 7 spinal muscular atrophies (SMA). Yearly osteodensitometries assessed body composition and bone mineral density (BMD) associated with bone markers and leptin. Along the 7-year study, 107 osteodensitometries showed that bone status evolved to osteopenia in most patients except BeMD...
July 6, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29954013/neurological-sequelae-due-to-inborn-metabolic-diseases-in-pediatric-refugees-challenges-in-treating-the-untreated
#12
Katharina A Schiergens, Michael Staudigl, Ingo Borggraefe, Esther M Maier
In the 2015 mass migration from Syria and neighboring countries, Germany received an unprecedented number of 4,76,649 asylum applications. As many of the refugees arrived in Southern Germany via the Austrian border, the city of Munich was faced with the majority of Germany's inflow of war refugees and their complex health issues. Among the refugees were a high number of children. Their main health issues were infectious diseases and surgical procedures due to trauma, but we also encountered complex chronic diseases...
June 28, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30086556/response-to-letter-to-the-editor
#13
Alfons Macaya, Susana Boronat
No abstract text is available yet for this article.
October 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30086555/pediatric-kl%C3%A3-ver-bucy-syndrome-report-of-two-cases-and-review-of-the-literature
#14
Gerhard Kluger, Ellen Romein, Melanie Hessenauer, Milka Pringsheim, Steffen Berweck
No abstract text is available yet for this article.
October 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30011403/early-life-epilepsy-and-episodic-apnea-revealing-an-atp1a3-mutation-report-of-a-pediatric-case-and-literature-review
#15
Thouraya Ben Younes, Hanene Benrhouma, Hedia Klaa, Aida Rouissi, Myriam Chaabouni, Ichraf Kraoua, Ilhem Ben Youssef-Turki
ATP1A3 mutations have now been recognized in infants, children, and adults presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and most recently, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome. The phenotypic spectrum of ATP1A3 -related neurological disorders continues to expand. In this case study, we report on early life epilepsy with episodic apnea potentially secondary to ATP1A3 mutation in a Tunisian child...
October 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30001565/shunt-dependency-syndrome-after-cyst-peritoneal-shunt-resolved-by-keyhole-microsurgical-cyst-resection-two-case-reports-and-literature-review
#16
Fangyong Dong, Zhen Wang, Yakun Li, Zirong Chen, Suojun Zhang, Feng Wan
OBJECTIVE:  Shunt dependency syndrome after cyst-peritoneal (CP) shunt is a rare but serious complication which leads to increased intracranial pressure and neurological deficit. The possible mechanism still remains in controversy. We present our experience on the treatment of the complication and attempt to find a better therapy strategy for the complication. METHODS:  Two children with middle fossa arachnoid cysts underwent CP shunt with fixed pressure catheters at an opening pressure of 7 cmH2 O and then developed dependency syndrome...
October 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29980149/febrile-infection-related-epilepsy-syndrome-fires-with-multifocal-subcortical-infarcts-a-new-imaging-phenotype
#17
Ai Peng Tan
Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy of unknown etiology which occurs predominantly in school-aged children, following a febrile illness. The term FIRES was first proposed in 2010 by van Baalen et al. The etiology of FIRES remains elusive, although most believed that it is likely related to inappropriate activation of the innate immune system. It is often a diagnosis of exclusion as it lacks specific clinical criteria and/or confirmatory tests. Familiarity with the range of imaging phenotypes associated with FIRES is crucial as this will assist timely recognition and institution of appropriate treatment plan...
October 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29940663/prune1-deficiency-expanding-the-clinical-and-genetic-spectrum
#18
Bader Alhaddad, Anna Schossig, Tobias B Haack, Reka Kovács-Nagy, Matthias C Braunisch, Christine Makowski, Jan Senderek, Katharina Vill, Wolfgang Müller-Felber, Tim M Strom, Birgit Krabichler, Peter Freisinger, Charu Deshpande, Tilman Polster, Nicole I Wolf, Isabelle Desguerre, Friedrich Wörmann, Agnès Rötig, Uwe Ahting, Robert Kopajtich, Holger Prokisch, Thomas Meitinger, René G Feichtinger, Johannes A Mayr, Heinz Jungbluth, Michael Hubmann, Johannes Zschocke, Felix Distelmaier, Johannes Koch
BACKGROUND:  Primary microcephaly and profound global developmental delay have been considered the core clinical phenotype in patients with bi-allelic PRUNE1 mutations. METHODS:  Linkage analysis and whole-exome sequencing (WES) in a multiplex family and extraction of further cases from a WES repository containing 571 children with severe developmental disabilities and neurologic symptoms. RESULTS:  We identified bi-allelic PRUNE1 mutations in twelve children from six unrelated families...
October 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29933461/arrested-hydrocephalus-in-childhood-case-series-and-review-of-the-literature
#19
Yannick Hurni, Andrea Poretti, Jacques Schneider, Raphael Guzman, Gian Paolo Ramelli
INTRODUCTION:  Hydrocephalus can be progressive or spontaneously arrested. In arrested hydrocephalus, the balance between production and absorption of the cerebrospinal fluid is restored. Patients are mostly asymptomatic, and no surgical treatment is necessary for them. METHODS:  We performed a two-center consecutive case series study, aimed at investigating the safety of nonsurgical management of hydrocephalus in selected pediatric patients. We retrospectively selected all consecutive patients, suspected to suffer from arrested hydrocephalus and referred to our two institutions between January 2011 and December 2013...
October 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29933460/arrested-hydrocephalus
#20
W Peter Vandertop
No abstract text is available yet for this article.
October 2018: Neuropediatrics
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