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Page 1
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M, Pehlivan D, Suñer DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MP, Malara A, Contrò G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JE, Bayramoglu SE, Gezdirici A, Hernandez-Rodriguez J, Cladera EA, Miravet E, Roldan-Busto J, Ruiz MA, Bauzá CV, Ben-Sira L, Sigaudy S, Begemann A, Unger S, Güngör S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochmüller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E. Lecca M, et al. Am J Hum Genet. 2023 Apr 6;110(4):681-690. doi: 10.1016/j.ajhg.2023.03.005. Epub 2023 Mar 29. Am J Hum Genet. 2023. PMID: 36996813 Free PMC article.
The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in thirteen individuals, i …
The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) …
Effects in Israel of Arab and Jewish Ethnicity on Intracerebral Hemorrhage.
Simaan N, Filioglo A, Cohen JE, Lorberboum Y, Leker RR, Honig A. Simaan N, et al. J Clin Med. 2022 Apr 11;11(8):2117. doi: 10.3390/jcm11082117. J Clin Med. 2022. PMID: 35456208 Free PMC article.
Intracerebral hemorrhages (ICH) characteristics reportedly differ between different ethnic groups. We aimed to compare the characteristics of Jewish and Arab ICH patients in Israel. Consecutive patients with primary ICH were included in a prospective institut …
Intracerebral hemorrhages (ICH) characteristics reportedly differ between different ethnic groups. We aimed to compare the characteri …
Characteristics of Cerebral Sinus Venous Thrombosis Patients Presenting with Intracerebral Hemorrhage.
Simaan N, Molad J, Peretz S, Filioglo A, Auriel E, Hallevi H, Seyman E, Barnea R, Cohen JE, Leker RR, Honig A. Simaan N, et al. J Clin Med. 2022 Feb 17;11(4):1040. doi: 10.3390/jcm11041040. J Clin Med. 2022. PMID: 35207313 Free PMC article.
Patients with cerebral venous sinus thrombosis (CVST) occasionally present with intracerebral hemorrhage (ICH). In this study, we aimed to identify predictors for ICH in CVST patients. Prospective CVST databases from three academic centers were retrospectively analy …
Patients with cerebral venous sinus thrombosis (CVST) occasionally present with intracerebral hemorrhage (ICH). In this study, we aim …
Primary Intracranial Hemorrhage: Characteristics, Distribution, Risk Factors, and Outcomes-A Comparative Study between Jewish and Arab Ethnic Groups in Northern Israel.
Saad J, Ryder CH, Hasan M, Keigler G, Badarny S. Saad J, et al. J Clin Med. 2023 Jul 29;12(15):4993. doi: 10.3390/jcm12154993. J Clin Med. 2023. PMID: 37568395 Free PMC article.
Due to the wide variation in data on ICH characteristics and the limited availability of population-based data on predictors of ICH survival and functional outcomes, we collected retrospective data on all adult patients admitted to the Galilee Medical Center with a …
Due to the wide variation in data on ICH characteristics and the limited availability of population-based data on predictors of IC …
Familial Early-Onset Alzheimer's Caused by Novel Genetic Variant and APP Duplication: A Cross-Sectional Study.
Kalfon L, Paz R, Raveh-Barak H, Salama A, Samra N, Kaplun A, Chasnyk N, Kfir NC, Mousa NK, Biton ES, Tanus M, Aharon-Peretz J, Falik Zaccai TC. Kalfon L, et al. Curr Alzheimer Res. 2022;19(10):694-707. doi: 10.2174/1567205020666221020095257. Curr Alzheimer Res. 2022. PMID: 36278440
The clinical presentation of APP duplication varies and may be gender specific, i.e., ICH in males and cognitive-behavioral deterioration in females. ...
The clinical presentation of APP duplication varies and may be gender specific, i.e., ICH in males and cognitive-behavioral deteriora …
Characteristics of patients with cerebral sinus venous thrombosis and JAK2 V617F mutation.
Simaan N, Molad J, Honig A, Filioglo A, Shbat F, Auriel E, Barnea R, Hallevi H, Seyman E, Mendel R, Leker RR, Peretz S. Simaan N, et al. Acta Neurol Belg. 2023 Oct;123(5):1855-1859. doi: 10.1007/s13760-022-02077-x. Epub 2022 Sep 22. Acta Neurol Belg. 2023. PMID: 36136222
Finally, patients with the JAK2 mutation were more prone to have intracerebral hemorrhage (ICH, 31% vs. 17%, p = 0.044), but there was no significant difference between groups in terms of mortality nor functional outcome. ...CSVT in JAK2 mutation carriers may have a tenden …
Finally, patients with the JAK2 mutation were more prone to have intracerebral hemorrhage (ICH, 31% vs. 17%, p = 0.044), but there wa …
Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease).
Merdler-Rabinowicz R, Grinberg A, Jacobson JM, Somekh I, Klein C, Lev A, Ihsan S, Habib A, Somech R, Simon AJ. Merdler-Rabinowicz R, et al. Pediatr Res. 2019 Nov;86(5):603-607. doi: 10.1038/s41390-019-0499-0. Epub 2019 Jul 9. Pediatr Res. 2019. PMID: 31288248 Free PMC article.
BACKGROUND: Infantile cortical hyperostosis (ICH)/Caffey disease is an inflammatory collagenopathy of infancy, manifested by subperiosteal bone hyperplasia. Genetically, ICH was linked with heterozygosity for an R836C mutation in the COL1A1 gene. ...
BACKGROUND: Infantile cortical hyperostosis (ICH)/Caffey disease is an inflammatory collagenopathy of infancy, manifested by subperio …
[DYNAMIC CHANGES OF D-DIMER FOLLOWING STROKE].
Shapir L, Gross B. Shapir L, et al. Harefuah. 2017 May;156(5):302-306. Harefuah. 2017. PMID: 28551913 Hebrew.
RESULTS: Average levels of D-dimer were higher after stroke, returning to normal range after 3 months. D-dimer levels were highest at intracerebral hemorrhage (ICH) and lowest at normal brain CT on admission (P=0.021 on admission, P=0.002 after 24 hours, P=0.018 after a we …
RESULTS: Average levels of D-dimer were higher after stroke, returning to normal range after 3 months. D-dimer levels were highest at intrac …