keyword
https://read.qxmd.com/read/35551623/analysis-of-clinical-characteristics-of-children-with-aicardi-goutieres-syndrome-in-china
#21
JOURNAL ARTICLE
Wei Wang, Wei Wang, Ting-Yan He, Li-Ping Zou, Wen-Dao Li, Zhong-Xun Yu, Ming-Sheng Ma, Jun Yang, Hong-Mei Song
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is an inflammatory disorder belonging to the type I interferonopathy group. The clinical diagnosis of AGS is difficult, which can lead to a high mortality rate. Overall, there is a lack of large-sample research data on AGS in China. We aim to summarize the clinical characteristics of Chinese patients with AGS and provide clues for clinical diagnostic. METHODS: The genetic and clinical features of Chinese patients with AGS were collected...
May 12, 2022: World Journal of Pediatrics: WJP
https://read.qxmd.com/read/35469073/spinocerebellar-ataxia-in-a-cohort-of-patients-from-rio-de-janeiro
#22
REVIEW
Marina Papais Alvarenga, Luciane Coral Siciliani, Ricardo Silva Carvalho, Maria Carolina Ganimi, Patrícia Sola Penna
OBJECTIVE: The objective of this study is to describe the first series of spinocerebellar ataxia (SCA) in Rio de Janeiro, whose population has a high proportion of mixed Portuguese and African ancestry. METHODS: We reviewed the medical records of patients with progressive ataxia evaluated at the Sarah Network of Rehabilitation Hospitals (Rio de Janeiro). Clinical course, genetic tests for hereditary ataxia, brain MRI, and electroneuromyography were analyzed. RESULTS: SCA was confirmed in 128 individuals, one-third of African descendants...
August 2022: Neurological Sciences
https://read.qxmd.com/read/35458680/beneficial-effects-of-capsaicin-in-disorders-of-the-central-nervous-system
#23
REVIEW
Michał Pasierski, Bartłomiej Szulczyk
Capsaicin is a natural compound found in chili peppers and is used in the diet of many countries. The important mechanism of action of capsaicin is its influence on TRPV1 channels in nociceptive sensory neurons. Furthermore, the beneficial effects of capsaicin in cardiovascular and oncological disorders have been described. Many recent publications show the positive effects of capsaicin in animal models of brain disorders. In Alzheimer's disease, capsaicin reduces neurodegeneration and memory impairment. The beneficial effects of capsaicin in Parkinson's disease and depression have also been described...
April 12, 2022: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://read.qxmd.com/read/35396068/short-and-long-term-response-of-vagus-nerve-stimulation-therapy-in-drug-resistant-epilepsy-a-systematic-review-and-meta-analysis
#24
REVIEW
Hongliang Mao, Yonghao Chen, Qintao Ge, Lei Ye, Hongwei Cheng
OBJECTIVES: To compare the short- and long-term efficacies as well as tolerability of vagus nerve stimulation (VNS) for the patients with drug-resistant epilepsy (DRE) in comparison with status at baseline. MATERIALS AND METHODS: We conducted a specific and systematic search in online data bases for relevant literature published prior to December 2020. The literature retrieved, including randomized clinical trials (RCTs) and observational studies, were then reviewed and analyzed...
April 2022: Neuromodulation: Journal of the International Neuromodulation Society
https://read.qxmd.com/read/34999638/epilepsy-and-eeg-abnormalities-in-congenital-zika-syndrome
#25
JOURNAL ARTICLE
Hélio van der Linden, André Pessoa, Ana van der Linden, Rodrigo Neves Florêncio, Maria Durce C G Carvalho, Vanessa van der Linden
The congenital Zika syndrome is a new entity of a group of etiologies that can lead to microcephaly and other brain damages during pregnancy, such as toxoplasmosis, rubeola, cytomegalovirus, and herpes simplex. The Zika virus crosses the placental barrier and, predominantly, affects neuronal progenitor cells. This disruptive process results in severe cortical developmental disorder, calcifications, cortical and subcortical atrophies, and malformations of the cerebellum, brain stem, and spinal cord. Children with congenital Zika syndrome have a set of clinical findings, such as cerebral palsy, dysphagia, orthopedic deformities, visual and auditory impairment, and, rarely, hydrocephalus...
January 6, 2022: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://read.qxmd.com/read/34777202/health-conditions-in-adults-with-cerebral-palsy-the-association-with-cp-subtype-and-severity-of-impairments
#26
JOURNAL ARTICLE
Ulrica Jonsson, Meta N Eek, Katharina Stibrant Sunnerhagen, Kate Himmelmann
Aim: To determine the prevalence of common health conditions in adults with cerebral palsy (CP) and to identify associations with the CP subtype or the severity of impairments. Methods: A population-based, cross-sectional study of 153 adults with CP born from 1959 to 1978 (87 males, 66 females; median age 48 years 3 months, range 37-58 years; 41% with unilateral spastic, 36% bilateral spastic, 19% dyskinetic, and 4% with ataxic CP). Data was gathered through interviews, physical assessments, and medical record reviews...
2021: Frontiers in Neurology
https://read.qxmd.com/read/34755890/-neuronal-ceroid-lipofuscinosis-type-6-late-infantile-variant-in-two-compound-heterozygous-siblings-with-novel-mutations
#27
JOURNAL ARTICLE
A Bravo-Oro, V M Saavedra-Alanís, J G Reyes-Vaca, R Espinosa-Tanguma, J M Shiguetomi-Medina, C Esmer
INTRODUCTION: There are 14 forms of lipofuscinosis, among them type 6 in its late childhood form is found, it starts between three and eight years with epilepsy, motor disorders, myoclonus, dysarthria, ataxia and neurological regression associated with vision loss and motor skills, and early death. It occurs from mutations in the CLN6 gene, most patients have homozygote variants associated with consanguinity, and rarely, with compound heterozygote variants. CASE REPORT: Siblings, started at 4 and 5 years each, with unstable gear, frequent falls and difficult running...
November 16, 2021: Revista de Neurologia
https://read.qxmd.com/read/34574857/impact-of-rehabilitation-intensity-on-3-year-mortality-among-children-with-moderate-to-severe-cerebral-palsy-a-population-based-cohort-study
#28
JOURNAL ARTICLE
Chiao-Lin Hsu, Chia-Ling Hung, Shih-Ju Huang, Chun-Hao Yin, Chi-Hsiang Chu, Tsu-Jen Kuo, Yao-Min Hung
Though numerous studies demonstrated the positive effect of rehabilitation on cerebral palsy (CP) children, there was no literature addressing the role of rehabilitation on mortality among children with CP. Therefore, we aimed to evaluate the impact of rehabilitation intensity on mortality among children with moderate to severe CP. This retrospective cohort study was conducted by National Health Insurance Research Database in Taiwan. Children (<12 years) with newly diagnosed moderate to severe CP between 1 January 2000 and 31 December 2013 were included...
September 21, 2021: International Journal of Environmental Research and Public Health
https://read.qxmd.com/read/34482231/an-observational-report-of-swallowing-outcomes-following-corpus-callosotomy
#29
JOURNAL ARTICLE
Noel Pristas, Nathan Rosenberg, Jonathan Pindrik, Adam P Ostendorf, Jennifer P Lundine
AIM: Determine swallowing outcomes following corpus callosotomy (CC) surgery. METHODS: Retrospective chart review of patients undergoing CC between July 2016 and November 2018 at a large, urban children's hospital. RESULTS: Of the 18 patients without prior history of dysphagia who underwent CC, 15 received speech pathology consults for bedside swallowing evaluation (BSE). Four patients were referred for a videofluroscopic swallow study (VFSS), and 3 showed no signs of difficulty and were advanced to regular diets with thin liquids...
October 2021: Epilepsy & Behavior: E&B
https://read.qxmd.com/read/34390302/short-and-long-term-response-of-vagus-nerve-stimulation-therapy-in-drug-resistant-epilepsy-a-systematic-review-and-meta-analysis
#30
REVIEW
Hongliang Mao, Yonghao Chen, Qintao Ge, Lei Ye, Hongwei Cheng
OBJECTIVES: To compare the short- and long-term efficacies as well as tolerability of vagus nerve stimulation (VNS) for the patients with drug-resistant epilepsy (DRE) in comparison with status at baseline. MATERIALS AND METHODS: We conducted a specific and systematic search in online data bases for relevant literature published prior to December 2020. The literature retrieved, including randomized clinical trials (RCTs) and observational studies, were then reviewed, and analyzed...
August 14, 2021: Neuromodulation: Journal of the International Neuromodulation Society
https://read.qxmd.com/read/34337151/miglustat-therapy-for-scarb2-associated-action-myoclonus-renal-failure-syndrome
#31
JOURNAL ARTICLE
Imran H Quraishi, Anna M Szekely, Anushree C Shirali, Pramod K Mistry, Lawrence J Hirsch
Objective: We evaluated whether substrate reduction therapy with miglustat could alter the course of action myoclonus-renal failure syndrome (AMRF), a rare, progressive myoclonic epilepsy with early mortality caused by scavenger receptor class B member 2 (S CARB2 ) gene mutations. Methods: We identified an AMRF patient with a biallelic combination of SCARB2 mutations determined by whole exome sequencing. SCARB2 encodes a protein that traffics β-glucocerebrosidase to the lysosomal membrane...
October 2021: Neurology. Genetics
https://read.qxmd.com/read/34266817/posterior-reversible-encephalopathy-syndrome-following-miller-fisher-syndrome
#32
JOURNAL ARTICLE
Catarina Bernardes, Cristiana Silva, Gustavo Santo, Inês Correia
A 71-year-old woman presented to the emergency room with dysphonia, diplopia, dysphagia and generalised weakness since that day. Neurological examination revealed eye adduction limitation, ptosis, hypoactive reflexes and gait ataxia. Blood and cerebrospinal fluid analysis and brain CT were normal. Electromyography revealed a sensory axonal polyneuropathy. She was diagnosed with Miller-Fisher syndrome (MFS) and started on intravenous immunoglobulin. Two days after intravenous immunoglobulin treatment was completed, she developed a sustained hypertensive profile and presented a generalised tonic-clonic seizure...
July 15, 2021: BMJ Case Reports
https://read.qxmd.com/read/34102826/-clinical-features-of-epilepsy-in-children-with-irf2bpl-gene-variation
#33
JOURNAL ARTICLE
Q Niu, Y Yang, X Y Niu, Y Chen, W W Liu, Y H Zhang
Objective: To summarize the genotype and phenotype of epilepsy in patients with interferon regulatory factor 2 binding protein-like (IRF2BPL) gene variants. Methods: Data of 6 epilepsy patients with IRF2BPL gene variants seen from May 2017 to September 2020 in the Department of Pediatrics of Peking University First Hospital were retrospectively collected. The clinical characteristics and genetic test results were analyzed. Results: A total of 6 patients with IRF2BPL gene variants (1 boy and 5 girls) were identified...
June 2, 2021: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/33916084/the-microcephaly-epidemic-research-group-paediatric-cohort-merg-pc-a-cohort-profile
#34
JOURNAL ARTICLE
Demócrito de Barros Miranda-Filho, Elizabeth B Brickley, Anna Ramond, Celina Maria Turchi Martelli, Nuria Sanchez Clemente, Thália Velho Barreto de Araújo, Laura Cunha Rodrigues, Ulisses Ramos Montarroyos, Wayner Vieira de Souza, Maria de Fátima P M de Albuquerque, Liana O Ventura, Ernesto T A Marques, Mariana C Leal, Sophie H Eickmann, Maria Angela Wanderley Rocha, Paula Fabiana Sobral da Silva, Maria Durce Costa Gomes Carvalho, Regina Coeli F Ramos, Danielle Maria da Silva Oliveira, Morgana do Nascimento Xavier, Rômulo A L Vasconcelos, Andreia Veras Gonçalves, Alessandra Mertens Brainer, Marli Tenório Cordeiro, Ricardo Arraes de Alencar Ximenes, On Behalf Of The Microcephaly Epidemic Research Group
This cohort profile aims to describe the ongoing follow-up of children in the Microcephaly Epidemic Research Group Paediatric Cohort (MERG-PC). The profile details the context and aims of the study, study population, methodology including assessments, and key results and publications to date. The children that make up MERG-PC were born in Recife or within 120 km of the city, in Pernambuco/Brazil, the epicentre of the microcephaly epidemic. MERG-PC includes children from four groups recruited at different stages of the ZIKV microcephaly epidemic in Pernambuco, i...
April 1, 2021: Viruses
https://read.qxmd.com/read/33855005/how-the-management-of-children-with-congenital-central-hypoventilation-syndrome-has-changed-over-time-two-decades-of-experience-from-an-italian-center
#35
JOURNAL ARTICLE
Federica Porcaro, Maria Giovanna Paglietti, Claudio Cherchi, Alessandra Schiavino, Maria Beatrice Chiarini Testa, Renato Cutrera
Background: Congenital central hypoventilation syndrome (CCHS) is a rare disorder whose clinical phenotype is closely related to genotype. Methods: A retrospective analysis has been conducted on 22 patients with CCHS, who were referred to the Pediatric Pulmonology and Respiratory Intermediate Care Unit of Bambino Gesù Children's Hospital (Italy) for a multidisciplinary follow-up program between 2000 and 2020. Results: Apnea and cyanosis were the most frequent symptoms at onset (91%). Overall, 59% of patients required tracheostomy and invasive mechanical ventilation (IMV) in the first months of life...
2021: Frontiers in Pediatrics
https://read.qxmd.com/read/33633953/neonatal-pura-syndrome-a-case-report-and-literature-review
#36
Ying Liu, Rui Liu, Tong Xu, Yu-Xin Zhou, Shuang-Chuan Zhang
The study's purpose is to investigate the clinical characteristics and research progress of PURA syndrome. It will also provide new ideas and methods for the diagnosis of neonatal hypotonia etiology. A case of PURA syndrome admitted to Shenzhen Hospital of Peking University was analyzed retrospectively. The keywords "PURA", "PURα", "PURA syndrome", and "5q31" were used to search the Chinese periodical full-text database and Wanfang database. The keywords "PURA", "PURα", "Pur-alpha", "PURA syndrome", and "5q31" were used to search the biomedical literature database (PubMed)...
January 2021: Translational Pediatrics
https://read.qxmd.com/read/33571877/a-nationwide-multi-center-questionnaire-survey-on-the-real-world-state-and-issues-regarding-post-stroke-complications-in-japan
#37
JOURNAL ARTICLE
Shuhei Ikeda, Kazuo Washida, Tomotaka Tanaka, Erika Kitajima, Tetsuya Chiba, Kazuki Fukuma, Takeshi Yoshimoto, Satoshi Saito, Yorito Hattori, Masafumi Ihara
OBJECTIVES: Post-stroke complications affect stroke survivors across the world, although data on them are limited. We conducted a questionnaire survey to examine the real-world state and issues regarding post-stroke complications in Japan, which represents a super-aged society. MATERIALS AND METHODS: In 2018, a nationwide multi-center questionnaire survey was conducted in the top 500 Japanese hospitals regarding the number of stroke patients treated. Three questionnaires regarding post-stroke complications were mailed to the doctors responsible for stroke management...
February 8, 2021: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://read.qxmd.com/read/33563005/dental-occlusal-and-craniofacial-features-of-children-with-microcephaly-due-to-congenital-zika-infection-3-cases-report-from-valle-del-cauca-cali-colombia-2020
#38
JOURNAL ARTICLE
Natalia Aragón, Catalina Díaz, Adolfo Contreras
OBJECTIVE: Describes dental, occlusal, and craniofacial characteristics of 3 children aged 3 to 4 years with microcephaly due to congenital Zika infection in Cali Valle del Cauca, 2020. DESIGN: Three children case report with congenital Zika virus microcephaly. SETTING: Institutional. PATIENTS: Three children with maternal viral infection confirmed by polymerase chain reaction during first trimester of pregnancy were included and were born from 2016 to 2017...
October 2021: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/33406966/complications-and-sequelae-in-patients-with-congenital-microcephaly-associated-with-zika-virus-infection-two-year-follow-up
#39
JOURNAL ARTICLE
Luane A Gouvea, Marlos Martins, Daniela Vivacqua, Julia Rosseto, Giulia Lima, Ana Cristina Frota, Thalita Abreu, Alexandra Araujo, Cristina Barroso Hofer
BACKGROUND: We aim to describe the long term follow-up of a cohort of children exposed in utero to the Zika virus. METHODS: Descriptive study of a cohort of microcephalic children due to Zika virus. Logistic regression was used to evaluate variables associated with worse prognosis epilepsy. RESULTS: We followed 28 children (15 females), with a median follow-up of 24 months (IQR = 12-28). During the follow-up, 1 infant died. The median head circumference at birth was 29 cm (IQR = 27-31)...
June 2021: Journal of Child Neurology
https://read.qxmd.com/read/33397004/-pediatric-autoimmune-encephalitis-associated-with-anti-glutamic-acid-decarboxylase-65-antibody-two-cases-report-and-literature-review
#40
JOURNAL ARTICLE
C H Ren, H T Ren, X T Ren, W H Zhang, J W Li, L F Dai, C H Chen, H Z Guan, F Fang
Objective: To investigate the clinical features and prognosis of pediatric autoimmune encephalitis associated with anti-glutamic acid decarboxylase 65 (GAD65) antibody. Methods: Clinical data of 2 patients diagnosed as autoimmune encephalitis associated with anti-GAD65 antibody at Department of Neurology, Beijing Children's Hospital in 2019 were analyzed retrospectively. A literature search with "anti-GAD65 antibody"encephalitis"epilepsy" or "cerebellar ataxia" as key words was conducted at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to January 2020)...
January 2, 2021: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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