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Quoted phrase not found in phrase index: "Porencephaly 2"
Page 1
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Itai T, et al. J Med Genet. 2021 Aug;58(8):505-513. doi: 10.1136/jmedgenet-2020-106896. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732225
METHODS: We examined COL4A1/2 in 218 individuals with suspected COL4A1/2-related brain defects. ...RESULTS: Pathogenic COL4A1/2 variants were detected in 56 individuals (n=56/218, 25.7%) showing porencephaly (n=29), schizencephaly (n=12) and others (n= …
METHODS: We examined COL4A1/2 in 218 individuals with suspected COL4A1/2-related brain defects. ...RESULTS: Pathogenic COL4A1/ …
An Iatrogenic Model of Brain Small-Vessel Disease: Post-Radiation Encephalopathy.
Moretti R, Caruso P. Moretti R, et al. Int J Mol Sci. 2020 Sep 5;21(18):6506. doi: 10.3390/ijms21186506. Int J Mol Sci. 2020. PMID: 32899565 Free PMC article. Review.
All the tumor patients had regional field partial brain RT, which encompassed each tumor, with an average margin of 2.6 cm from the initial target tumor volume. We observed in our patients who have been exposed to a higher dose of RT (30-65 Gy) a cognitive and behavior dec …
All the tumor patients had regional field partial brain RT, which encompassed each tumor, with an average margin of 2.6 cm from the i …
Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.
Hino-Fukuyo N, Togashi N, Takahashi R, Saito J, Inui T, Endo W, Sato R, Okubo Y, Saitsu H, Haginoya K. Hino-Fukuyo N, et al. Pediatr Neurol. 2016 Jan;54:39-42.e1. doi: 10.1016/j.pediatrneurol.2015.08.016. Epub 2015 Aug 28. Pediatr Neurol. 2016. PMID: 26545857
The magnetic resonance imaging scans of each patient were retrieved and inspected. RESULTS: Five, one, and two individuals developed porencephaly, schizencephaly, and hydranencephaly, respectively. The estimated incidence rates of porencephaly, schizencephaly, and h …
The magnetic resonance imaging scans of each patient were retrieved and inspected. RESULTS: Five, one, and two individuals developed pore …
Sonographic spectrum and postnatal outcomes of early-onset versus late-onset fetal cerebral ventriculomegaly.
Bhatia A, Thia EWH, Bhatia A, Ruochen D, Yeo GSH. Bhatia A, et al. J Matern Fetal Neonatal Med. 2022 Dec;35(23):4612-4619. doi: 10.1080/14767058.2020.1857358. Epub 2020 Dec 8. J Matern Fetal Neonatal Med. 2022. PMID: 33292033

Multivariate regression analysis demonstrated additional malformations (p < .0001, OR11.5 [95%CI: 4-35.2]), progression of VM (p = .004, OR 10.2 [95% CI: 2.1-52.3]) and severity of VM (OR 5.3 [95%CI: 0.8-37.7]) were significant predictors of Neurodevelopme

…

Multivariate regression analysis demonstrated additional malformations (p < .0001, OR11.5 [95%CI: 4-35.2]), progression of VM (p =

…
Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.
Maurice P, Guilbaud L, Garel J, Mine M, Dugas A, Friszer S, Maisonneuve E, Moutard ML, Coste T, Héron D, Tournier-Lasserve E, Garel C, Jouannic JM. Maurice P, et al. Ultrasound Obstet Gynecol. 2021 May;57(5):783-789. doi: 10.1002/uog.22106. Ultrasound Obstet Gynecol. 2021. PMID: 32515830 Free article.
Inclusion criteria were: (1) severe and/or multifocal hemorrhagic cerebral lesions; (2) multifocal ischemic-hemorrhagic cerebral lesions. These anomalies could be of different ages and associated with schizencephaly or porencephaly. ...COL4A1 and COL4A2 gene mutatio …
Inclusion criteria were: (1) severe and/or multifocal hemorrhagic cerebral lesions; (2) multifocal ischemic-hemorrhagic cerebral lesi …
What is the clinical importance of echogenic material in the fetal frontal horns?
Hines N, Mehta T, Romero J, Levine D. Hines N, et al. J Ultrasound Med. 2009 Dec;28(12):1629-37. doi: 10.7863/jum.2009.28.12.1629. J Ultrasound Med. 2009. PMID: 19933475 Free PMC article.
In part 3, 2 independent reviewers assessed the appearance of the frontal horns in 40 fetuses (20 with suspected intraventricular hemorrhage from parts 1 and 2 and 20 who were interpreted to have normal findings in part 2). ...Additional findings by sonograph …
In part 3, 2 independent reviewers assessed the appearance of the frontal horns in 40 fetuses (20 with suspected intraventricular hem …
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
Dahl S, Pettersson M, Eisfeldt J, Schröder AK, Wickström R, Teär Fahnehjelm K, Anderlid BM, Lindstrand A. Dahl S, et al. PLoS One. 2020 Feb 10;15(2):e0228622. doi: 10.1371/journal.pone.0228622. eCollection 2020. PLoS One. 2020. PMID: 32040484 Free PMC article.
We identified 11 rare single nucleotide variants (SNVs) in ten individuals, including a homozygous variant in KIF7 (previously associated with Joubert syndrome), a heterozygous de novo variant in COL4A1 (previously described in an individual with porencephaly), and a homoz …
We identified 11 rare single nucleotide variants (SNVs) in ten individuals, including a homozygous variant in KIF7 (previously associated wi …
Surgical management of pediatric patients with encephalopathy due to electrical status epilepticus during sleep (ESES).
Wang S, Weil AG, Ibrahim GM, Fallah A, Korman B, Ragheb J, Bhatia S, Duchowny M. Wang S, et al. Epileptic Disord. 2020 Feb 1;22(1):39-54. doi: 10.1684/epd.2020.1129. Epileptic Disord. 2020. PMID: 32043470
We identified 11 children who underwent surgery for ESES. The mean ages were 3.2 years for seizure onset, 7.1 years for formal ESES diagnosis, and 9.4 years for surgery. Seizure etiologies included cortical malformations (four patients), encephalomalacia and gliosis from p …
We identified 11 children who underwent surgery for ESES. The mean ages were 3.2 years for seizure onset, 7.1 years for formal ESES d …
Neonatal alloimmune thrombocytopenia: antenatal and postnatal imaging findings in the pediatric brain.
Dale ST, Coleman LT. Dale ST, et al. AJNR Am J Neuroradiol. 2002 Oct;23(9):1457-65. AJNR Am J Neuroradiol. 2002. PMID: 12372732 Free PMC article.
In five cases, this was thought to represent encephaloclastic porencephaly and, in one case, schizencephaly (agenetic porencephaly). Six children had ventriculomegaly of varying degrees and severity and asymmetry. Extra-axial hemorrhages (n = 2), intraventric …
In five cases, this was thought to represent encephaloclastic porencephaly and, in one case, schizencephaly (agenetic porencephaly …
EEG topography in porencephaly and arachnoid cyst.
Takaesu E, Watanabe K, Inokuma K, Matsumoto A, Sugiura M, Negoro T. Takaesu E, et al. Clin Electroencephalogr. 1985 Jan;16(1):21-9. doi: 10.1177/155005948501600104. Clin Electroencephalogr. 1985. PMID: 4028451
With the topographic EEG mapping method, the correlation between the morphologic abnormality of the brain and its functional changes was investigated in 13 patients with porencephaly and arachnoid cyst verified by CT scan. The spatial distribution of the EEG activity was d …
With the topographic EEG mapping method, the correlation between the morphologic abnormality of the brain and its functional changes was inv …
62 results