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Journal of pediatric neurology最新文献

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Joubert Syndrome and Renal Implication Joubert综合征与肾脏意义
IF 0.2
Journal of pediatric neurology Pub Date : 2022-08-22 DOI: 10.1055/s-0042-1759541
G. Conti, G. Farello, M. Ceravolo, M. Fusco, C. Cuppari, Alessio Mancuso, I. Ceravolo, E. David, G. Iapadre, Giovanna Scorrano, M. F. Fiorile, R. Chimenz
{"title":"Joubert Syndrome and Renal Implication","authors":"G. Conti, G. Farello, M. Ceravolo, M. Fusco, C. Cuppari, Alessio Mancuso, I. Ceravolo, E. David, G. Iapadre, Giovanna Scorrano, M. F. Fiorile, R. Chimenz","doi":"10.1055/s-0042-1759541","DOIUrl":"https://doi.org/10.1055/s-0042-1759541","url":null,"abstract":"Abstract Twenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described. The less common form is the Dekaban–Arima syndrome, a JS RD that includes congenital blindness and occasional encephalocele. The other, more common RD is juvenile nephronophthisis (NPHP), that presents a progressive interstitial fibrosis, associated with small cysts at the corticomedullary junction. NPHP is the most frequent genetic cause for end-stage RD in the first three decades of life. Symptoms start at approximately 6 years of age with urine concentrating defects, polydipsia, polyuria, and secondary enuresis.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"91 1","pages":"049 - 052"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74921218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD) 纯Joubert综合征和Joubert综合征相关疾病(JSRD)相关基因综述
IF 0.2
Journal of pediatric neurology Pub Date : 2022-08-22 DOI: 10.1055/s-0042-1760242
M. Amorini, G. Iapadre, Alessio Mancuso, I. Ceravolo, G. Farello, A. Scardamaglia, S. Gramaglia, A. Ceravolo, A. Salpietro, C. Cuppari
{"title":"An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD)","authors":"M. Amorini, G. Iapadre, Alessio Mancuso, I. Ceravolo, G. Farello, A. Scardamaglia, S. Gramaglia, A. Ceravolo, A. Salpietro, C. Cuppari","doi":"10.1055/s-0042-1760242","DOIUrl":"https://doi.org/10.1055/s-0042-1760242","url":null,"abstract":"Abstract Joubert syndrome (JS) is a rare autosomal recessive disease characterized by a peculiar brain malformation, hypotonia, ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys and liver, defining a group of conditions termed syndrome and Joubert syndrome-related disorders (JSRD). Currently, more than 30 causative genes have been identified, involved in the development and stability of the primary cilium. Correlations genotype–phenotype are emerging between clinical presentations and mutations in JSRD genes, with implications in terms of molecular diagnosis, prenatal diagnosis, follow-up, and management of mutated patients.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"29 1","pages":"023 - 032"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87978491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Meckel Syndrome: A Clinical and Molecular Overview 梅克尔综合征:临床和分子综述
IF 0.2
Journal of pediatric neurology Pub Date : 2022-08-22 DOI: 10.1055/s-0042-1759531
G. Valentini, Mariana Saia, G. Farello, V. Salpietro, Alessio Mancuso, I. Ceravolo, P. V. Colucci, Manuela Torre, G. Iapadre, G. Rosa, F. Cucinotta
{"title":"Meckel Syndrome: A Clinical and Molecular Overview","authors":"G. Valentini, Mariana Saia, G. Farello, V. Salpietro, Alessio Mancuso, I. Ceravolo, P. V. Colucci, Manuela Torre, G. Iapadre, G. Rosa, F. Cucinotta","doi":"10.1055/s-0042-1759531","DOIUrl":"https://doi.org/10.1055/s-0042-1759531","url":null,"abstract":"Abstract Meckel syndrome (MKS) is a lethal, autosomal recessive, congenital syndrome caused by mutations in genes that encode proteins structurally or functionally related to the primary cilium. MKS is a malformative syndrome, most commonly characterized by occipital meningoencephalocele, polycystic kidney disease, liver fibrosis, and post- and (occasionally) preaxial polydactyly. To date, more than 10 genes are known to constitute the molecular background of MKS, displaying genetic heterogeneity. Individuals with MKS may resemble some phenotypic features of Joubert syndrome and related disorders, thus making diagnostic setting quite challenging. Here, we systematically reviewed the main clinical and genetic characteristics of MKS and its role among ciliopathies.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"7 1","pages":"062 - 067"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74658680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Joubert Syndrome with Oral-Facial-Digital Defect (JS-OFD): A Brief Overview on Clinics and Genetics Joubert综合征合并口腔-面部-数字缺损(JS-OFD):临床和遗传学的简要概述
IF 0.2
Journal of pediatric neurology Pub Date : 2022-08-22 DOI: 10.1055/s-0042-1759516
C. Cuppari, A. Salpietro, R. Chimenz, L. Colavita, M. Ceravolo, E. Gitto, A. Sallemi, M. Fusco, I. Ceravolo, G. Farello, G. Iapadre, C. Rocca, Ainara Salazar, Alessio Mancuso
{"title":"Joubert Syndrome with Oral-Facial-Digital Defect (JS-OFD): A Brief Overview on Clinics and Genetics","authors":"C. Cuppari, A. Salpietro, R. Chimenz, L. Colavita, M. Ceravolo, E. Gitto, A. Sallemi, M. Fusco, I. Ceravolo, G. Farello, G. Iapadre, C. Rocca, Ainara Salazar, Alessio Mancuso","doi":"10.1055/s-0042-1759516","DOIUrl":"https://doi.org/10.1055/s-0042-1759516","url":null,"abstract":"Abstract Joubert's syndrome with digital facial oral defects represents a rare subgroup of Joubert's syndrome with related disorders. There are 11 forms of oral-facial-digital syndromes and are characterized by having neurological signs of JS associated with orofacial anomalies and often polydactyly. The most severe variant is the OFD type VI (Varadi-Papp syndrome) in which there are tongue hamartomas, multiple frenula, midline notch of the upper lip, mesoaxial polydactyly, and hypothalamic hamartomas. Treatments are symptomatic and supportive with reconstructive surgery for correctable malformation and physical therapy, occupational therapy, speech therapy, and infant stimulation for mental delay.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"52 1","pages":"058 - 061"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74172387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ophthalmological Findings in Joubert Syndrome and Related Disorders Joubert综合征及相关疾病的眼科检查结果
IF 0.2
Journal of pediatric neurology Pub Date : 2022-08-22 DOI: 10.1055/s-0042-1759536
I. Ceravolo, F. Granata, E. Gitto, G. Iapadre, R. Chimenz, N. Giannitto, Alessio Mancuso, M. Ceravolo, Tommaso La Macchia, Federico Rissotto, G. Farello, C. Cuppari
{"title":"Ophthalmological Findings in Joubert Syndrome and Related Disorders","authors":"I. Ceravolo, F. Granata, E. Gitto, G. Iapadre, R. Chimenz, N. Giannitto, Alessio Mancuso, M. Ceravolo, Tommaso La Macchia, Federico Rissotto, G. Farello, C. Cuppari","doi":"10.1055/s-0042-1759536","DOIUrl":"https://doi.org/10.1055/s-0042-1759536","url":null,"abstract":"Abstract Joubert syndrome (JS) is a rare genetic condition characterized by congenital malformation of the mid-hindbrain, cerebellar ataxia, hypotonia, oculomotor apraxia, hypoplasia of the cerebellar vermis resulting in breathing defects, ataxia, and delayed development. Ophthalmological examination reveals eye involvement with nystagmus and retinal defects. Genetic counseling is important for the prevention of new cases. Great advances have been made in recent years. Management is symptomatic and multidisciplinary. In the present review, we discussed the most frequent ophthalmological anomalies associated with JS and speculated on the role of ciliary physiology in eye development.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"1028 1","pages":"068 - 072"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77196817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Radiological Features of Joubert's Syndrome Joubert综合征的放射学特征
IF 0.2
Journal of pediatric neurology Pub Date : 2022-08-22 DOI: 10.1055/s-0042-1760241
G. Stroscio, C. Cuppari, M. Ceravolo, A. Salpietro, Francesco Battaglia, A. Sallemi, M. Fusco, A. Ceravolo, G. Iapadre, E. Calì, D. Impollonia, F. Granata
{"title":"Radiological Features of Joubert's Syndrome","authors":"G. Stroscio, C. Cuppari, M. Ceravolo, A. Salpietro, Francesco Battaglia, A. Sallemi, M. Fusco, A. Ceravolo, G. Iapadre, E. Calì, D. Impollonia, F. Granata","doi":"10.1055/s-0042-1760241","DOIUrl":"https://doi.org/10.1055/s-0042-1760241","url":null,"abstract":"Abstract Joubert syndrome (JS) is a rare autosomal recessive disorder. All patients affected by this syndrome presented a characteristic picture of cranial fossa malformations, called “molar tooth sign.” This sign is defined by the presence in axial section at the level of a deck/midbrain, of hypo/dysplasia of the cerebellar vermis, abnormally deep interpeduncular fossa and horizontalized thickened and elongated superior cerebellar peduncles. Although “molar tooth sign” is peculiar of JS, other radiological findings have been also reported in these patients. Here, the authors briefly assumed the principal magnetic resonance imaging findings of JS.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"179 1","pages":"073 - 077"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80039049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Brief Focus on Joubert Syndrome and Related Acute Complications 朱伯特综合征及其相关急性并发症的简要介绍
IF 0.2
Journal of pediatric neurology Pub Date : 2022-08-22 DOI: 10.1055/s-0042-1760240
S. Manti, E. Gitto, I. Ceravolo, Alessio Mancuso, A. Ceravolo, A. Salpietro, G. Farello, R. Chimenz, G. Iapadre, Francesco Battaglia, C. Cuppari
{"title":"A Brief Focus on Joubert Syndrome and Related Acute Complications","authors":"S. Manti, E. Gitto, I. Ceravolo, Alessio Mancuso, A. Ceravolo, A. Salpietro, G. Farello, R. Chimenz, G. Iapadre, Francesco Battaglia, C. Cuppari","doi":"10.1055/s-0042-1760240","DOIUrl":"https://doi.org/10.1055/s-0042-1760240","url":null,"abstract":"Abstract Joubert syndrome (JS) and related disorders are a group of congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign, a complex midbrain–hindbrain malformation. Moreover, JS may be associated with multiorgan involvement, mainly nephronophthisis, hepatic fibrosis, retinal dystrophy, and other abnormalities with both inter- and intra-familial variability. Therefore, these patients should be followed by both diagnostic protocol and multidisciplinary approach to assess multiorgan involvement. Here, we briefly summarize the possible complications in patients with JS.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"440 1","pages":"003 - 007"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73595360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Joubert Syndrome: Diagnostic Evaluation and Follow-up Joubert综合征:诊断评估和随访
IF 0.2
Journal of pediatric neurology Pub Date : 2022-08-22 DOI: 10.1055/s-0042-1759532
C. Cuppari, I. Ceravolo, Alessio Mancuso, G. Farello, G. Iapadre, Luca Zagaroli, G. Nanni, M. Ceravolo
{"title":"Joubert Syndrome: Diagnostic Evaluation and Follow-up","authors":"C. Cuppari, I. Ceravolo, Alessio Mancuso, G. Farello, G. Iapadre, Luca Zagaroli, G. Nanni, M. Ceravolo","doi":"10.1055/s-0042-1759532","DOIUrl":"https://doi.org/10.1055/s-0042-1759532","url":null,"abstract":"Abstract The follow-up of a child with genetic syndrome is necessarily multidisciplinary because of the multiplicity of problems and calls for close collaboration between different specialists. The primary objective is the total care of the child and his family, regardless of the rarity and complexity of the disease, to obtain the highest possible degree of mental and physical health and autonomy.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"242 1","pages":"053 - 057"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88470167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ciliopathies: Genetic Counseling 纤毛病:遗传咨询
IF 0.2
Journal of pediatric neurology Pub Date : 2022-08-22 DOI: 10.1055/s-0042-1759515
C. Cuppari, A. Salpietro, I. Ceravolo, G. Iapadre, M. Fusco, A. Sallemi, Alessio Mancuso, G. Farello, M. Ceravolo
{"title":"Ciliopathies: Genetic Counseling","authors":"C. Cuppari, A. Salpietro, I. Ceravolo, G. Iapadre, M. Fusco, A. Sallemi, Alessio Mancuso, G. Farello, M. Ceravolo","doi":"10.1055/s-0042-1759515","DOIUrl":"https://doi.org/10.1055/s-0042-1759515","url":null,"abstract":"Abstract Joubert syndrome (JS) follows autosomal recessive inheritance, with rare X-linked recessive cases. The disease is genetically heterogeneous with neurological features associated with multiorgan involvement (e.g., retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly). The incidence of JS and related disorders is between 1/80,000 and 1/100,000 live births. Many causative genes have been identified, all encoding for proteins of the cilium or the centrosome, making the JS part of a group of diseases called “ciliopathies.” The identification of the molecular defect in couples at risk is allowed by prenatal genetic testing, whereas fetal ultrasound and brain neuroimaging are informative in the first and second trimester of pregnancy.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"19 1","pages":"041 - 043"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85219077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
COVID-19 Vaccination May Provoke Intracranial Hypertension COVID-19疫苗可能引起颅内高压
IF 0.2
Journal of pediatric neurology Pub Date : 2022-08-18 DOI: 10.1055/s-0042-1750788
Alexandria E. Melendez‐Zaidi, R. Foroozan, G. Orman, Farida Abid
{"title":"COVID-19 Vaccination May Provoke Intracranial Hypertension","authors":"Alexandria E. Melendez‐Zaidi, R. Foroozan, G. Orman, Farida Abid","doi":"10.1055/s-0042-1750788","DOIUrl":"https://doi.org/10.1055/s-0042-1750788","url":null,"abstract":"In parallel to the spread of the novel severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2), there has been the growing recognition that active SARS-CoV-2 infection has the potential to effect both the peripheral and central nervous systems. When it comes to the SARS-CoV-2 vaccine, however, reporting has been more uncertain. As the vaccination rate has risen, we have seen a rise in rare neurological complications thought to be associated with the vaccination including acute transverse myelitis, Guillain–Barre syndrome, optic neuritis, and Tolosa–Hunt syndrome. The Centers for Disease Control and Prevention (CDC) estimates 98 confirmed cases of Guillain–Barre syndrome out of 12.6 million doses. Given the initial age limits of vaccination eligibility, most reports have been limited to the adult population. Here, we report a case of intracranial hypertension (IH), evolving to fulminant IH in a healthy female after receiving the SARS-CoV-2 vaccine. While elevated intracranial pressure has been reported in the context of active SARS-CoV-2 infections and postinfection multisystem inflammatory syndrome (MIS-C), this is the first reported case of pediatric IH after vaccination alone.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"319 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80178672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
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