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47 results

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Page 1
Ring chromosome 20 syndrome: electroclinical description of six patients and review of the literature.
Elens I, Vanrykel K, De Waele L, Jansen K, Segeren M, Van Paesschen W, Ceulemans B, Boel M, Frijns JP, Buyse G, Lagae L. Elens I, et al. Epilepsy Behav. 2012 Apr;23(4):409-14. doi: 10.1016/j.yebeh.2012.02.008. Epub 2012 Mar 15. Epilepsy Behav. 2012. PMID: 22424860 Review.
BACKGROUND: Ring chromosome 20 syndrome is a rare chromosomal disorder. METHODS: In six patients, we focused on the presenting epileptic phenotype, the behavioral and mental problems and the relationship between the ratio of mosaicism and the age at onset of the epi …
BACKGROUND: Ring chromosome 20 syndrome is a rare chromosomal disorder. METHODS: In six patients, we focused on the presenting …
The role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis.
Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S. Hajtovic S, et al. J Neurosurg Pediatr. 2022 Mar 18;29(6):667-680. doi: 10.3171/2022.1.PEDS222. Print 2022 Jun 1. J Neurosurg Pediatr. 2022. PMID: 35303699 Review.
Secondary outcomes were seizure severity and quality of life (QOL), including cognitive, functional, and behavioral outcomes. A random-effects meta-analysis was performed. RESULTS: The authors identified 125 articles, of which 47 with 216 nonduplicate patients were analyze …
Secondary outcomes were seizure severity and quality of life (QOL), including cognitive, functional, and behavioral outcomes. A random …
The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review.
Chen M, Ke X, Liang H, Gong F, Yang H, Wang L, Duan L, Pan H, Cao D, Zhu H. Chen M, et al. Mol Genet Genomic Med. 2021 Dec;9(12):e1842. doi: 10.1002/mgg3.1842. Epub 2021 Nov 8. Mol Genet Genomic Med. 2021. PMID: 34747577 Free PMC article. Review.
BACKGROUND: Ring chromosome 15 [r (15)] is an uncommon finding with various clinical manifestations. ...CONCLUSION: We delineate the clinical spectrum of r (15) syndrome with the identification of an additional individual and rhGH treatment is benefici …
BACKGROUND: Ring chromosome 15 [r (15)] is an uncommon finding with various clinical manifestations. ...CONCLUSION: We …
Response to growth hormone therapy in ring chromosome 15: Review and evidence from a new case on possible beneficial effect in neurodevelopment.
Wannes S, El Ahmer I, Rjiba K, Jemmali N, Abdallah HH, Haj RB, Achour A, Bouzidi H, Saad A, Mougou S, Mahjoub B. Wannes S, et al. Growth Horm IGF Res. 2023 Aug;71:101550. doi: 10.1016/j.ghir.2023.101550. Epub 2023 Jul 25. Growth Horm IGF Res. 2023. PMID: 37531800
Its disruption is usually characterized by severe intrauterine and postnatal growth retardation, microcephaly and neurodevelopmental delay.The efficacy of recombinant human growth hormone treatment remains a challenge for children with IGF1 resistance and pathogenic mutations of …
Its disruption is usually characterized by severe intrauterine and postnatal growth retardation, microcephaly and neurodevelopmental delay.T …
Epilepsy in ring chromosome 20 syndrome.
Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S, Fiocchi I, Peron A, Naldi I, Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP. Vignoli A, et al. Epilepsy Res. 2016 Dec;128:83-93. doi: 10.1016/j.eplepsyres.2016.10.004. Epub 2016 Oct 24. Epilepsy Res. 2016. PMID: 27816898
OBJECTIVE: Ring chromosome 20 syndrome is characterized by severe, drug resistant childhood onset epilepsy, often accompanied by cognitive impairment. ...METHODS: We reviewed the electro-clinical phenotype of 25 patients (aged 8-59 years), and assessed the re …
OBJECTIVE: Ring chromosome 20 syndrome is characterized by severe, drug resistant childhood onset epilepsy, often accompanied …
Ring chromosome 22 and mood disorders.
Sovner R, Stone A, Fox C. Sovner R, et al. J Intellect Disabil Res. 1996 Feb;40 ( Pt 1):82-6. doi: 10.1111/j.1365-2788.1996.tb00607.x. J Intellect Disabil Res. 1996. PMID: 8930062 Review.
The case of a 21-year-old man with severe developmental disabilities, ring chromosome 22 and rapid-cycling bipolar illness is presented. ...These symptoms are consistent with atypical bipolar disorder and raise the possibility that ring chromosome 22 i …
The case of a 21-year-old man with severe developmental disabilities, ring chromosome 22 and rapid-cycling bipolar illness is …
Anesthetic Management of a Patient With Ring 18 Syndrome.
Maekawa M, Yasuda M, Sasaki H, Tachinami Y, Mizuta K. Maekawa M, et al. Anesth Prog. 2021 Oct 1;68(3):178-179. doi: 10.2344/anpr-68-03-01. Anesth Prog. 2021. PMID: 34606568 Free PMC article.
Ring 18 syndrome or ring chromosome 18 is an extremely rare genetic disorder involving the fusion of the 18th chromosomal ends to form a ring, often with genetic material loss of varying degrees. ...We report the management of a 20-year-old male with ring …
Ring 18 syndrome or ring chromosome 18 is an extremely rare genetic disorder involving the fusion of the 18th chromosomal ends …
Hypothyroidism and levothyroxine-responsive liver dysfunction in a patient with ring chromosome 18 syndrome.
Ohkubo K, Ihara K, Ohga S, Ishimura M, Hara T. Ohkubo K, et al. Thyroid. 2012 Oct;22(10):1080-3. doi: 10.1089/thy.2011.0521. Epub 2012 Sep 4. Thyroid. 2012. PMID: 22947348 Free PMC article.
BACKGROUND: Ring chromosome 18 [r18] is a rare constitutional chromosomal aberration syndrome, characterized by dysmorphic face, hypoactivity, short stature, and delayed development. ...
BACKGROUND: Ring chromosome 18 [r18] is a rare constitutional chromosomal aberration syndrome, characterized by dysmorphic fac …
Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study.
Vaudano AE, Ruggieri A, Vignoli A, Avanzini P, Benuzzi F, Gessaroli G, Nichelli PF, Darra F, Cantalupo G, Mastrangelo M, Dalla Bernardina B, Canevini MP, Meletti S. Vaudano AE, et al. Epilepsia. 2014 Mar;55(3):403-13. doi: 10.1111/epi.12539. Epub 2014 Jan 31. Epilepsia. 2014. PMID: 24483620 Free article.
OBJECTIVE: To identify the brain networks that are involved in the different electroencephalography (EEG) abnormalities in patients with ring chromosome 20 [r(20)] syndrome. We hypothesize the existence of both distinctive and common brain circuits for the paroxysma …
OBJECTIVE: To identify the brain networks that are involved in the different electroencephalography (EEG) abnormalities in patients with …
47 results