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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 behav …
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 …
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 Neurode

…

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

…
Obliteration of the choroid plexus after endoscopic coagulation.
Ogiwara H, Uematsu K, Morota N. Ogiwara H, et al. J Neurosurg Pediatr. 2014 Sep;14(3):230-3. doi: 10.3171/2014.6.PEDS1438. Epub 2014 Jul 4. J Neurosurg Pediatr. 2014. PMID: 24995821
The etiology of hydrocephalus was posthemorrhagic in 5 patients, myelomeningocele in 3, postmeningitis in 2, congenital aqueductal stenosis in 1, hydranencephaly in 1, porencephaly in 1, and idiopathic in 5. ...In 9 patients (50%), treatment failed. Of these, 3 pati …
The etiology of hydrocephalus was posthemorrhagic in 5 patients, myelomeningocele in 3, postmeningitis in 2, congenital aqueductal st …
Hemiparetic cerebral palsy: clinical pattern and imaging in prediction of outcome.
Humphreys P, Whiting S, Pham B. Humphreys P, et al. Can J Neurol Sci. 2000 Aug;27(3):210-9. Can J Neurol Sci. 2000. PMID: 10975533
The principal imaging findings were: arm-dominant patients - large arterial infarcts, porencephalic cysts, brain malformations; leg-dominant - periventricular leukomalacia; proportional - porencephaly. Arm-dominant hemiparesis and radiologic evidence of cortical pathology …
The principal imaging findings were: arm-dominant patients - large arterial infarcts, porencephalic cysts, brain malformations; leg-dominant …
Early destructive lesions in the developing brain: clinical and electrographic correlates.
Low C, Garzon E, Carrete H Jr, Vilanova LC, Yacubian EM, Sakamoto AC. Low C, et al. Arq Neuropsiquiatr. 2007 Jun;65(2B):416-22. doi: 10.1590/s0004-282x2007000300010. Arq Neuropsiquiatr. 2007. PMID: 17665007 Free article.
Eighteen patients had hemiparesis, 19 had epilepsy (current or in the past), seven of them had refractory seizures, and 16 had epileptiform discharges. All patients with MCE had gliosis while only 2 with POR had it. CONCLUSIONS: No correlation was observed between t …
Eighteen patients had hemiparesis, 19 had epilepsy (current or in the past), seven of them had refractory seizures, and 16 had epileptiform …
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
The natural history, indications for surgical intervention, and predictors for favorable seizure and neuropsychological outcome remain unclear. ...We identified 11 children who underwent surgery for ESES. The mean ages were 3.2 years for seizure onset, 7.1 years for …
The natural history, indications for surgical intervention, and predictors for favorable seizure and neuropsychological outcome remai …
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.
Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P. Alamowitch S, et al. Neurology. 2009 Dec 1;73(22):1873-82. doi: 10.1212/WNL.0b013e3181c3fd12. Neurology. 2009. PMID: 19949034 Free PMC article.
BACKGROUND: COL4A1 mutations cause familial porencephaly, infantile hemiplegia, cerebral small vessel disease (CSVD), and hemorrhagic stroke. ...Infantile hemiplegia, major stroke, and porencephaly were not observed. Skin biopsies showed alterations of baseme …
BACKGROUND: COL4A1 mutations cause familial porencephaly, infantile hemiplegia, cerebral small vessel disease (CSVD), and hemorrhagic …
Variability of CYP3A7 expression in human fetal liver.
Leeder JS, Gaedigk R, Marcucci KA, Gaedigk A, Vyhlidal CA, Schindel BP, Pearce RE. Leeder JS, et al. J Pharmacol Exp Ther. 2005 Aug;314(2):626-35. doi: 10.1124/jpet.105.086504. Epub 2005 Apr 21. J Pharmacol Exp Ther. 2005. PMID: 15845858 Free article.
A subset of five samples had extremely low mRNA, protein, and catalytic activity, possibly due to pathology affecting fetal viability (anencephaly, porencephaly). In the remaining samples, T2alphaH activity varied 6.7-fold (358 +/- 142, range 97 to 643 pmol/min/mg) and DHE …
A subset of five samples had extremely low mRNA, protein, and catalytic activity, possibly due to pathology affecting fetal viability (anenc …
Schizencephaly: a study of 16 patients.
Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño J, Quiñones D. Pascual-Castroviejo I, et al. Neurologia. 2012 Oct;27(8):491-9. doi: 10.1016/j.nrl.2011.06.005. Epub 2011 Sep 3. Neurologia. 2012. PMID: 21890242 Free article. English, Spanish.
Prenatal cytomegalovirus infection was diagnosed in 2 patients. A cerebral malformation that affected the midline was diagnosed by routine ultrasound studies in 2 patients. ...CONCLUSION: 3D MR imaging was very important in diagnosing of schizencephaly in our patien …
Prenatal cytomegalovirus infection was diagnosed in 2 patients. A cerebral malformation that affected the midline was diagnosed by ro …
28 results