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Quoted phrase not found in phrase index: "Congenital non-communicating hydrocephalus"
Page 1
Fetal cytomegalovirus infection.
Leruez-Ville M, Ville Y. Leruez-Ville M, et al. Best Pract Res Clin Obstet Gynaecol. 2017 Jan;38:97-107. doi: 10.1016/j.bpobgyn.2016.10.005. Epub 2016 Oct 20. Best Pract Res Clin Obstet Gynaecol. 2017. PMID: 27923540 Review.
Cytomegalovirus (CMV) congenital infection affects 0.7% of live births worldwide and is the leading cause of congenital neurological handicap of infectious origin. ...This review provides an update on the evidence for diagnosis, prognosis and treatment of congeni …
Cytomegalovirus (CMV) congenital infection affects 0.7% of live births worldwide and is the leading cause of congenital neurol …
Association of In Utero Antipsychotic Medication Exposure With Risk of Congenital Malformations in Nordic Countries and the US.
Huybrechts KF, Straub L, Karlsson P, Pazzagli L, Furu K, Gissler M, Hernandez-Diaz S, Nørgaard M, Zoega H, Bateman BT, Cesta CE, Cohen JM, Leinonen MK, Reutfors J, Selmer RM, Suarez EA, Ulrichsen SP, Kieler H. Huybrechts KF, et al. JAMA Psychiatry. 2023 Feb 1;80(2):156-166. doi: 10.1001/jamapsychiatry.2022.4109. JAMA Psychiatry. 2023. PMID: 36477338 Free PMC article.
OBJECTIVE: To evaluate the risk of first-trimester antipsychotic exposure with respect to congenital malformations, focusing on individual drugs and specific malformation subtypes. ...Propensity score stratification was used to control for potential confounders. ...
OBJECTIVE: To evaluate the risk of first-trimester antipsychotic exposure with respect to congenital malformations, focusing on indiv …
Expanding the KIF4A-associated phenotype.
Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Kalantari S, et al. Am J Med Genet A. 2021 Dec;185(12):3728-3739. doi: 10.1002/ajmg.a.62443. Epub 2021 Aug 3. Am J Med Genet A. 2021. PMID: 34346154 Free PMC article.
We expand the phenotype associated with KIF4A variants from developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of phenotypic manifestations. …
We expand the phenotype associated with KIF4A variants from developmental delay and intellectual disability with or without epilepsy to a …
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Greenberg ABW, Mehta NH, Allington G, Jin SC, Moreno-De-Luca A, Kahle KT. Greenberg ABW, et al. JAMA Netw Open. 2023 Nov 1;6(11):e2343384. doi: 10.1001/jamanetworkopen.2023.43384. JAMA Netw Open. 2023. PMID: 37991765 Free PMC article.
IMPORTANCE: Exome sequencing (ES) has been established as the preferred first line of diagnostic testing for certain neurodevelopmental disorders, such as global developmental delay and autism spectrum disorder; however, current recommendations are not specific to or inclusive of …
IMPORTANCE: Exome sequencing (ES) has been established as the preferred first line of diagnostic testing for certain neurodevelopmental diso …
Pathophysiology of congenital and neonatal hydrocephalus.
McAllister JP 2nd. McAllister JP 2nd. Semin Fetal Neonatal Med. 2012 Oct;17(5):285-94. doi: 10.1016/j.siny.2012.06.004. Epub 2012 Jul 15. Semin Fetal Neonatal Med. 2012. PMID: 22800608 Review.
The pathophysiology of congenital and neonatal hydrocephalus is not well understood although the prognosis for patients with this disorder is far from optimal. ...Recently these impairments have been observed in patients with fetal-onset hydrocephalus, …
The pathophysiology of congenital and neonatal hydrocephalus is not well understood although the prognosis for patients with t …
Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions.
McKnight I, Hart C, Park IH, Shim JW. McKnight I, et al. Exp Neurol. 2021 Jan;335:113523. doi: 10.1016/j.expneurol.2020.113523. Epub 2020 Nov 4. Exp Neurol. 2021. PMID: 33157092 Free PMC article. Review.
Congenital hydrocephalus (CH) is caused by genetic mutations, but whether factors impacting human genetic mutations are disease-specific remains elusive. ...A disease-specific matching of telomere proximity or high A + T content predicts causative genes of CH …
Congenital hydrocephalus (CH) is caused by genetic mutations, but whether factors impacting human genetic mutations are diseas …
Postnatal phenobarbital for the prevention of intraventricular haemorrhage in preterm infants.
Romantsik O, Smit E, Odd DE, Bruschettini M. Romantsik O, et al. Cochrane Database Syst Rev. 2023 Mar 16;3(3):CD001691. doi: 10.1002/14651858.CD001691.pub4. Cochrane Database Syst Rev. 2023. PMID: 36924438 Free PMC article. Review.
Large haemorrhages are associated with a high risk of disability and hydrocephalus. Instability of blood pressure and cerebral blood in the newborn flow are postulated as causative factors. ...Phenobarbital was compared to no intervention or placebo. We excluded infants wi …
Large haemorrhages are associated with a high risk of disability and hydrocephalus. Instability of blood pressure and cerebral blood …
Clinical features and genetic analysis of Dandy-Walker syndrome.
Sun Y, Wang T, Zhang N, Zhang P, Li Y. Sun Y, et al. BMC Pregnancy Childbirth. 2023 Jan 18;23(1):40. doi: 10.1186/s12884-023-05367-1. BMC Pregnancy Childbirth. 2023. PMID: 36653756 Free PMC article.
BACKGROUND: Dandy-Walker syndrome (DWS) is a rare congenital malformation of the central nervous system (CNS), characterized by underdevelopment or dysplasia of the cerebellar vermis, expansion of the fourth ventricle and posterior fossa cistern. ...RESULTS: Of the 76 case …
BACKGROUND: Dandy-Walker syndrome (DWS) is a rare congenital malformation of the central nervous system (CNS), characterized by under …
Dandy-Walker malformation and variants: clinical features and associated anomalies in 28 affected children-a single retrospective study and a review of the literature.
Di Nora A, Costanza G, Pizzo F, Di Mari A, Sapuppo A, Basile A, Fiumara A, Pavone P. Di Nora A, et al. Acta Neurol Belg. 2023 Jun;123(3):903-909. doi: 10.1007/s13760-022-02059-z. Epub 2022 Sep 6. Acta Neurol Belg. 2023. PMID: 36068432 Free PMC article. Review.
RESULTS: Associated anomalies were frequently reported. Among these, hydrocephalus was found in 13/28 (48%), and hydrocephalus plus corpus callosum anomalies in three children (10%). ...To note, a child with DWM was affected by Down syndrome and one by congenital …
RESULTS: Associated anomalies were frequently reported. Among these, hydrocephalus was found in 13/28 (48%), and hydrocephalus …
Fetal surgery for spina bifida.
Dewan MC, Wellons JC. Dewan MC, et al. J Neurosurg Pediatr. 2019 Aug 1;24(2):105-114. doi: 10.3171/2019.4.PEDS18383. Epub 2019 Aug 1. J Neurosurg Pediatr. 2019. PMID: 31370010 Review.
In addition, technical innovations such as fetoscopic surgery aim to minimize maternal morbidity while conferring the beneficial effects observed with open intrauterine intervention....
In addition, technical innovations such as fetoscopic surgery aim to minimize maternal morbidity while conferring the beneficial effects …
478 results