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https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#1
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28814122/flibanserin-toxicity-in-a-toddler-following-ingestion
#2
Nicholas Granzella, Betty C Chen, Geoffrey S Baird, Matthew Valento
INTRODUCTION: Flibanserin is a medication recently approved by the FDA for treatment of generalized hypoactive sexual desire disorder (HSDD) in premenopausal women. Its mechanism of action is not fully understood but is thought to modulate serotonin receptors and increase levels of norepinephrine and dopamine. While much is known about toxicity of other drugs which affect these systems, there is little information about toxicity of flibanserin at this time. CASE: We present a case of a 2-year-old boy who ingested an estimated 600 mg of his mother's flibanserin...
August 17, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28808765/presentation-and-symptom-interval-in-children-with-central-nervous-system-tumors-a-single-center-experience
#3
Chiara Stocco, Chiara Pilotto, Eva Passone, Agostino Nocerino, Raffaello Tosolini, Anna Pusiol, Paola Cogo
PURPOSE: The aim of this study is to describe the symptoms and signs of central nervous system (CNS) tumors in a pediatric population and to assess the time interval between the onset of the disease and the time of the diagnosis. METHODS: A retrospective observational study was conducted at our Oncology Pediatric Unit between January 2000 and November 2011. We included 75 children between 5 months and 16 years (mean age of 7.8 ± 4.7 years), with male to female ratio of 3:2...
August 14, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28801782/common-pediatric-medical-emergencies-in-office-practice
#4
Bharat Mehra, Suresh Gupta
General Practitioners frequently see children with medical conditions that may evolve into an emergency if not promptly attended to. The most common emergencies encountered in pediatric office practice are respiratory distress, dehydration, anaphylaxis, seizures and trauma. Assessment of children is sometimes difficult as the signs and symptoms might be subtle and not markedly expressed. Also, normal value of vital signs vary with age, thus their interpretation requires discrete knowledge of age appropriate values...
August 12, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28794249/not-all-scn1a-epileptic-encephalopathies-are-dravet-syndrome-early-profound-thr226met-phenotype
#5
Lynette G Sadleir, Emily I Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A Kurian, Simone Mandelstam, Elaine Wirrell, Katherine C Nickels, Hema R Murali, Gemma Carvill, Candace T Myers, Heather C Mefford, Ingrid E Scheffer
OBJECTIVE: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS: We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms...
August 9, 2017: Neurology
https://www.readbyqxmd.com/read/28782931/an-lc-ms-ms-based-method-for-the-quantification-of-pyridox-am-ine-5-phosphate-oxidase-activity-in-dried-blood-spots-from-patients-with-epilepsy
#6
Matthew Peter Wilson, Emma Footitt, Apostolos Papandreou, Mari-Liis Uudelepp, Ronit Pressler, Danielle C Stevenson, Camila Gabriel, Mel Mcsweeney, Matthew Baggot, Derek Burke, Tommy Stödberg, Kate Riney, Manuel Schiff, Simon J R Heales, Kevin Mills, Paul Gissen, Peter T Clayton, Philippa B Mills
We report the development of a rapid, simple and robust LC-MS/MS based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B6, affected patients can have a normal developmental outcome. Prognosis of these patients is therefore reliant upon a rapid diagnosis...
August 7, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28778056/cognitive-predictors-of-adaptive-functioning-in-children-with-symptomatic-epilepsy
#7
Elizabeth N Kerr, Nora Fayed
The current study sought to understand the contribution of the attention and working memory challenges experienced by children with active epilepsy without an intellectual disability to adaptive functioning (AF) while taking into account intellectual ability, co-occurring brain-based psychosocial diagnoses, and epilepsy-related variables. METHODS: The relationship of attention and working memory with AF was examined in 76 children with active epilepsy with intellectual ability above the 2nd percentile recruited from a tertiary care center...
July 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28777180/sleep-wake-disorders-of-childhood
#8
Suresh Kotagal
PURPOSE OF REVIEW: Sleep-wake disorders occur in 10% to 28% of children and differ somewhat in pathophysiology and management from sleep-wake disorders in adults. This article discusses the diagnosis and management of key childhood sleep disorders. RECENT FINDINGS: The role of sleep in memory consolidation and in the facilitation of learning has been increasingly recognized, even at the toddler stage. Cataplexy, a key feature of narcolepsy type 1, may be subtle in childhood and characterized by transient muscle weakness isolated to the face...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28770886/frequency-of-acute-bacterial-meningitis-in-children-with-first-episode-of-febrile-seizures
#9
Hina Batool Siddiqui, Nighat Haider, Zarmast Khan
OBJECTIVE: To determine the frequency of acute bacterial meningitis in children with first episode of febrile seizures. METHODS: This cross-sectional study was conducted at the Polyclinic, Postgraduate Medical Institute, Islamabad, Pakistan, from December 2012 to August 2013, and comprised patients with first episode of fever and seizure. SPSS 10 was used for data analysis. RESULTS: Of the157 patients, 12(7.6%) were diagnosed to have acute bacterial meningitis with 5(41...
July 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28755567/microcephaly-and-zika-virus-neuroradiological-aspects-clinical-findings-and-a-proposed-framework-for-early-evaluation-of-child-development
#10
Nelci Adriana Cicuto Ferreira Rocha, Ana Carolina de Campos, Fellipe Cicuto Ferreira Rocha, Fernanda Pereira Dos Santos Silva
BACKGROUND AND AIMS: As the recent outbreak of microcephaly cases caused by Zika virus has been declared a global health emergency, providing assessment guidelines for multidisciplinary teams providing early developmental screening and stimulation to infants with microcephaly is much needed. Thus, the aim of this manuscript is to provide an overview on what is known about neuroradiological aspects and clinical findings in infants with microcephaly caused by Zika virus and to propose a framework for early evaluation of child development...
July 26, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28754226/febrile-seizures-and-epilepsy-association-with-autism-and-other-neurodevelopmental-disorders-in-the-child-and-adolescent-twin-study-in-sweden
#11
Christopher Gillberg, Sebastian Lundström, Elisabeth Fernell, Gill Nilsson, Brian Neville
BACKGROUND: There is a recently well-documented association between childhood epilepsy and earlysymptomaticsyndromeselicitingneurodevelopmentalclinicalexaminations (ESSENCE) including autism spectrum disorder, but the relationship between febrile seizures and ESSENCE is less clear. METHODS: The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing population-based study targeting twins born in Sweden since July 1, 1992. Parents of 27,092 twins were interviewed using a validated DSM-IV-based interview for ESSENCE, in connection with the twins' ninth or twelfth birthday...
June 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28752154/epidemiology-pathophysiology-clinical-evaluation-and-treatment-of-carbon-monoxide-poisoning-in-child-infant-and-fetus
#12
REVIEW
Atilla Alp Gozubuyuk, Huseyin Dag, Alper Kacar, Yakup Karakurt, Vefik Arica
Carbon monoxide (CO) poisoning is one of the most common types of poisoning causing death worldwide. In our country, it occurs particularly during winter as a result of leak from stove or water heater, or as result of inhalation during a fire. Although most poisonings occur accidentally, some cases are suicide attempt. As CO is a substance that is not visible and has no taste or smell and is therefore difficult to detect, the gas can be a "silent killer" that is not noticed until effects develop. CO reacts with oxygen, creating carboxy hemoglobin (COHb), which leads to tissue hypoxia...
2017: Northern Clinics of Istanbul
https://www.readbyqxmd.com/read/28747166/cascade-fumarate-hydratase-mutation-screening-allows-early-detection-of-kidney-tumour-a-case-report
#13
Melanie M Y Chan, Angela Barnicoat, Faiz Mumtaz, Michael Aitchison, Lucy Side, Helen Brittain, Alan W H Bates, Daniel P Gale
BACKGROUND: Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC)...
July 26, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28744688/intracranial-extradural-arachnoid-cyst-in-a-child
#14
Luyuan Li, Muhammad Ali, Arnold H Menezes, Brian J Dlouhy
INTRODUCTION: Arachnoid cysts are benign developmental anomalies of arachnoid membrane origin that can occur anywhere along the neuro-axis. They are believed to develop from the splitting or duplication of the arachnoid membrane by CSF that is trapped by a ball-valve mechanism. Intracranial arachnoid cysts have only been described as intradural lesions while spinal arachnoid cysts can be both intradural or extradural. CASE REPORT: After an extensive literature review, we report the first case of an intracranial, extradural arachnoid cyst in a 5-yearold girl...
July 25, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28743048/the-ketogenic-diet-in-patients-with-myoclonic-status-in-non-progressive-encephalopathy
#15
Roberto Caraballo, Francesca Darra, Gabriela Reyes, Marisa Armeno, Araceli Cresta, Graciela Mestre, Bernardo Dalla Bernardina
Myoclonic status in non-progressive encephalopathy (MSNPE) is characterized by the recurrence of long-lasting atypical status epilepticus associated with attention impairment and continuous polymorphous jerks, mixed with other complex abnormal movements, in infants suffering from a non-progressive encephalopathy. The ketogenic diet (KD) has been used as an alternative to antiepileptic drugs (AEDs) for patients with refractory epileptic encephalopathies. PURPOSE: In this study we assess the efficacy and tolerability of the KD in patients with MSNPE...
July 11, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28729928/the-assessment-of-laboratory-parameters-in-children-with-fever-and-febrile-seizures
#16
Krystyna Gontko-Romanowska, Zbigniew Żaba, Paweł Panieński, Barbara Steinborn, Michał Szemień, Magdalena Łukasik-Głębocka, Krystian Ratajczak, Jacek Górny
OBJECTIVE: The aim of the research paper was to assess selected laboratory results in children with fever without seizures and febrile seizure. MATERIALS AND METHODS: The paper presents an analysis of a group of 306 children aged 6 months - 5 years who were admitted with diagnosed fever without seizures and febrile seizures in Specialized Health Care Centre for Mother and Child in Poznan between 1st January 2008 and 31st December 2009. Out of the diagnostics procedures performed in children the following ones were taken into consideration: BCC and CRP...
July 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28724747/interleukin-1-receptor-in-seizure-susceptibility-after-traumatic-injury-to-the-pediatric-brain
#17
Bridgette D Semple, Terence J O'Brien, Kayleen Gimlin, David K Wright, Shi Eun Kim, Pablo M Casillas-Espinosa, Kyria M Webster, Steven Petrou, Linda J Noble-Haeusslein
Epilepsy after pediatric traumatic brain injury (TBI) is associated with poor quality of life. This study aimed to characterize post-traumatic epilepsy in a mouse model of pediatric brain injury, and to evaluate the role of interleukin-1 (IL-1) signaling as a target for pharmacological intervention. Male mice received a controlled cortical impact or sham surgery at postnatal day 21, approximating a toddler-aged child. Mice were treated acutely with an IL-1 receptor antagonist (IL-1Ra; 100 mg/kg s.c.) or vehicle...
July 19, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28721930/pharmacoresistant-epileptic-eyelid-twitching-in-a-child-with-a-mutation-in-syngap1
#18
Tetsuya Okazaki, Yoshiaki Saito, Rika Hiraiwa, Shinji Saitoh, Masachika Kai, Kaori Adachi, Yoko Nishimura, Eiji Nanba, Yoshihiro Maegaki
SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video-EEG, have not been reported. We report the case of a 4-year-old boy who developed recurrent epileptic eyelid twitching at 1 year and 5 months of age. Seizures gradually increased in frequency to more than 50 times per day and manifested with upward eye deviation, motion arrest, loss of consciousness, and eyelid twitching lasting for five seconds...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28720723/profile-and-outcomes-of-critically-ill-children-in-a-lower-middle-income-country
#19
Muhammad Irfan Habib, Khalid Mehmood A Khan
OBJECTIVE: To determine the clinical profile and outcome of critically ill children presenting to a paediatric ED in a lower middle-income country. METHODS: We performed a retrospective analysis of children (<14 years) presenting to the ED of the National Institute of Child Health, Karachi, between January and December 2014 who were assigned to acuity 1 (requiring immediate life-saving interventions) according to the Emergency Severity Index. Data included demographic variables, presenting complaints, interventions and outcomes in the ED...
July 18, 2017: Emergency Medicine Journal: EMJ
https://www.readbyqxmd.com/read/28719479/a-simulation-based-quality-improvement-initiative-improves-pediatric-readiness-in-community-hospitals
#20
Travis Whitfill, Marcie Gawel, Marc Auerbach
BACKGROUND: The National Pediatric Readiness Project Pediatric Readiness Survey (PRS) measured pediatric readiness in 4149 US emergency departments (EDs) and noted an average score of 69 on a 100-point scale. This readiness score consists of 6 domains: coordination of pediatric patient care (19/100), physician/nurse staffing and training (10/100), quality improvement activities (7/100), patient safety initiatives (14/100), policies and procedures (17/100), and availability of pediatric equipment (33/100)...
July 17, 2017: Pediatric Emergency Care
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