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Quoted phrase not found in phrase index: "Other syndrome with a central nervous system malformation as major feature"
Page 1
Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome.
Comi AM. Comi AM. Neurologist. 2011 Jul;17(4):179-84. doi: 10.1097/NRL.0b013e318220c5b6. Neurologist. 2011. PMID: 21712663 Free PMC article. Review.
BACKGROUND: Sturge-Weber syndrome (SWS) is a neurovascular disorder with a capillary malformation of the face (port-wine birthmark), a capillary-venous malformation in the eye, and a capillary-venous malformation in the brain (leptomeningeal angioma). …
BACKGROUND: Sturge-Weber syndrome (SWS) is a neurovascular disorder with a capillary malformation of the face (port-wine birth …
Update on adrenal insufficiency in patients with liver cirrhosis.
Trifan A, Chiriac S, Stanciu C. Trifan A, et al. World J Gastroenterol. 2013 Jan 28;19(4):445-56. doi: 10.3748/wjg.v19.i4.445. World J Gastroenterol. 2013. PMID: 23382623 Free PMC article. Review.
Liver cirrhosis is a major cause of mortality worldwide, often with severe sepsis as the terminal event. ...AI may also be present in patients with stable cirrhosis without sepsis and in those undergoing liver transplantation. The term hepato-adrenal syndrome define …
Liver cirrhosis is a major cause of mortality worldwide, often with severe sepsis as the terminal event. ...AI may also be present in …
Pearls for the diagnosis and possible pathophysiological mechanisms of valproic acid-induced lupus erythematosus: A literature review.
Papadopoulou E, Saroglou M, Ismailos G, Fletsios D, Tsavlis D, Tryfon S. Papadopoulou E, et al. Lupus. 2022 May;31(6):650-658. doi: 10.1177/09612033221088445. Epub 2022 Mar 24. Lupus. 2022. PMID: 35324365 Review.
Central nervous system, renal and skin involvement was scarcely observed. ...Despite the prompt resolution of clinical symptoms after VPA discontinuation, serological abnormalities persisted up to 18 months. ...
Central nervous system, renal and skin involvement was scarcely observed. ...Despite the prompt resolution of clinic …
Psychiatric disorders in Prader-Willi syndrome: epidemiology and management.
Dykens E, Shah B. Dykens E, et al. CNS Drugs. 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. CNS Drugs. 2003. PMID: 12617696 Review.
In this paper, we review behavioural and psychiatric problems in persons with Prader-Willi syndrome, a disorder caused by a paternally derived deletion at chromosome 15(q11-q13) in about 70% of affected patients, and by maternal uniparental disomy in the majority of …
In this paper, we review behavioural and psychiatric problems in persons with Prader-Willi syndrome, a disorder caused by a paternall …
Central nervous system abnormalities in complex regional pain syndrome (CRPS): clinical and quantitative evidence of medullary dysfunction.
Thimineur M, Sood P, Kravitz E, Gudin J, Kitaj M. Thimineur M, et al. Clin J Pain. 1998 Sep;14(3):256-67. doi: 10.1097/00002508-199809000-00013. Clin J Pain. 1998. PMID: 9758076 Clinical Trial.
OBJECTIVE: Sensory and motor abnormalities are common among patients with complex regional pain syndrome (CRPS). The purpose of the present study was to define and characterize these abnormalities and to develop a hypothesis regarding the area of the centr …
OBJECTIVE: Sensory and motor abnormalities are common among patients with complex regional pain syndrome (CRPS). The purpose o …
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L. Milh M, et al. Epilepsia. 2011 Oct;52(10):1828-34. doi: 10.1111/j.1528-1167.2011.03181.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770924 Free article.
Three groups of patients could be distinguished in this cohort: (1) Ohtahara syndromes (n = 38); (2) early myoclonic encephalopathies (n = 7); and (3) early onset epileptic encephalopathies that did not match any familiar syndrome (n = 7). ...These movements could b …
Three groups of patients could be distinguished in this cohort: (1) Ohtahara syndromes (n = 38); (2) early myoclonic encephalopathies …
Cyclosporin A acute encephalopathy and seizure syndrome in childhood: clinical features and risk of seizure recurrence.
Gleeson JG, duPlessis AJ, Barnes PD, Riviello JJ Jr. Gleeson JG, et al. J Child Neurol. 1998 Jul;13(7):336-44. doi: 10.1177/088307389801300706. J Child Neurol. 1998. PMID: 9701483
Cyclosporin A is associated with an acute encephalopathy including seizures and alterations in mental status, herein referred to as cyclosporin A acute encephalopathy and seizure syndrome. The clinical history, electroencephalogram (EEG), and neuroimaging findings i …
Cyclosporin A is associated with an acute encephalopathy including seizures and alterations in mental status, herein referred to as cyclospo …
The Clinical Features of FLAIR-Hyperintense Lesions in Anti-MOG Antibody Associated Cerebral Cortical Encephalitis with Seizures: Case Reports and Literature Review.
Wang YF, Liu XW, Lin JM, Liang JY, Zhao XH, Wang SJ. Wang YF, et al. Front Immunol. 2021 Jun 11;12:582768. doi: 10.3389/fimmu.2021.582768. eCollection 2021. Front Immunol. 2021. PMID: 34177880 Free PMC article.
BACKGROUND: The presence of fluid attenuated inversion recovery (FLAIR)-hyperintense lesions in anti-myelin oligodendrocyte glycoprotein (MOG) antibody-associated cerebral cortical encephalitis with seizures (FLAMCES) was recently reported. However, the clinical characteri …
BACKGROUND: The presence of fluid attenuated inversion recovery (FLAIR)-hyperintense lesions in anti-myelin oligodendrocyte glycoprotein (MO …
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM. Jongmans MC, et al. J Med Genet. 2006 Apr;43(4):306-14. doi: 10.1136/jmg.2005.036061. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155193 Free PMC article.
BACKGROUND: CHARGE syndrome is a non-random clustering of congenital anomalies including coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. ...The CHD7 gene on chromosome 8q12.1 was rece …
BACKGROUND: CHARGE syndrome is a non-random clustering of congenital anomalies including coloboma, heart defects, choan …