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Fetal hydrocephalus

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https://www.readbyqxmd.com/read/29651556/neurospheres-from-neural-stem-neural-progenitor-cells-nspcs-of-non-hydrocephalic-htx-rats-produce-neurons-astrocytes-and-multiciliated-ependyma-the-cerebrospinal-fluid-of-normal-and-hydrocephalic-rats-supports-such-a-differentiation
#1
Roberto Henzi, Montserrat Guerra, Karin Vío, César González, Cristian Herrera, Pat McAllister, Conrad Johanson, Esteban M Rodríguez
Fetal onset hydrocephalus and abnormal neurogenesis are two inseparable phenomena turned on by a cell junction pathology first affecting neural stem/progenitor cells (NSPCs) and later the multiciliated ependyma. The neurological impairment of children born with hydrocephalus is not reverted by derivative surgery. NSPCs and neurosphere (NE) grafting into the cerebrospinal fluid (CSF) of hydrocephalic fetuses thus appears as a promising therapeutic procedure. There is little information about the cell lineages actually forming the NE as they grow throughout their days in vitro (DIV)...
April 12, 2018: Cell and Tissue Research
https://www.readbyqxmd.com/read/29541808/fowler-syndrome-and-fetal-mri-findings-a-genetic-disorder-mimicking-hydranencephaly-hydrocephalus
#2
Beth M Kline-Fath, Arnold C Merrow, Maria A Calvo-Garcia, Usha D Nagaraj, Howard M Saal
Fetal ventriculomegaly is a common referral for prenatal MRI, with possible etiologies being hydrocephalus and hydranencephaly. The underlying cause of hydranencephaly is unknown, but many have suggested that the characteristic supratentorial injury is related to idiopathic bilateral occlusions of the internal carotid arteries from an acquired or destructive event. Fowler syndrome is a rare genetic disorder that causes fetal akinesia and a proliferative vasculopathy that can result in an apparent hydranencephaly-hydrocephaly complex...
March 14, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29519789/congenital-aqueductal-stenosis-findings-at-fetal-mri-that-accurately-predict-a-postnatal-diagnosis
#3
K J Heaphy-Henault, C V Guimaraes, A R Mehollin-Ray, C I Cassady, W Zhang, N K Desai, M J Paldino
BACKGROUND AND PURPOSE: Congenital aqueductal stenosis is a common cause of prenatal ventriculomegaly. An accurate diagnosis provides prognostic information and may guide obstetric management. The purpose of this study was to identify specific anatomic findings on prenatal MR imaging that can be used as predictors of congenital aqueductal stenosis. MATERIALS AND METHODS: Prenatal and postnatal MRIs of fetuses referred to our institution for ventriculomegaly between June 2008 and August 2015 were reviewed...
May 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29464157/clinical-significance-of-venous-anomalies-in-syndromic-craniosynostosis
#4
Andrea E Copeland, Caitlin E Hoffman, Vassilios Tsitouras, Dhruve S Jeevan, Emily S Ho, James M Drake, Christopher R Forrest
Background: The pattern of cranial venous drainage in syndromic craniosynostosis is unpredictable and not adequately understood. Collateral channels substitute for stenotic venous sinuses and pose potential risk for surgical intervention. The purpose of this study was to analyze the patterns of venous drainage in patients with syndromic craniosynostosis and their influence on operative planning and morbidity. Methods: A retrospective study of patients with syndromic craniosynostosis from 2000 to 2013 was performed...
January 2018: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29458880/prenatal-diagnosis-of-hydrancephaly-and-enlarged-cerebellum-and-cisterna-magna-in-a-fetus-with-thanatophoric-dysplasia-type-ii-and-a-review-of-prenatal-diagnosis-of-brain-anomalies-associated-with-thanatophoric-dysplasia
#5
Chih-Ping Chen, Tung-Yao Chang, Tan-Wei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II (TD2) and a review of prenatal diagnosis of brain anomalies associated with TD. CASE REPORT: A 33-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal ultrasound abnormalities. Prenatal ultrasound at 14 weeks of gestation revealed an increased nuchal translucency (NT) and hydrocephalus...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29377253/how-to-explore-fetal-sacral-agenesis-without-open-dysraphism-key-prenatal-imaging-and-clinical-implications
#6
Nicolas Mottet, Yann Chaussy, Frederic Auber, Fabien Guimiot, Francine Arbez-Gindre, Didier Riethmuller, Célia Cretolle, Alexandra Benachi
The estimated prevalence of fetal caudal dysgenesis is 1 per 100,000 births. The functional prognosis of sacral agenesis is dominated by the large spectrum of associated caudal malformations. Except for cases associated with hydrocephalus secondary to open spinal dysraphism or chromosomal anomalies, association with mental deficiency is rare. We propose a systematic prenatal approach to cases of fetal sacral agenesis based on 9 etiologic items: clinical context, type of sacral dysgenesis, associated spinal cord malformations, mobility of lower limbs, investigation of the presacral region, analysis of the gastrointestinal tract, analysis of the genitourinary tract, associated vertebral defects, and cytogenetic analysis...
January 27, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29337005/walker-warburg-syndrome-and-tectocerebellar-dysraphia-a-novel-association-caused-by-a-homozygous-dag1-mutation
#7
Zvi Leibovitz, Hanna Mandel, Tzipora C Falik-Zaccai, Shani Ben Harouch, David Savitzki, Karina Krajden-Haratz, Liat Gindes, Mordechai Tamarkin, Dorit Lev, William B Dobyns, Tally Lerman-Sagie
OBJECTIVES: To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family. METHODS: We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation. RESULTS: The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia)...
May 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29298325/conditional-ablation-of-the-rfx4-isoform-1-transcription-factor-allele-dosage-effects-on-brain-phenotype
#8
Ping Xu, James P Morrison, Julie F Foley, Deborah J Stumpo, Toni Ward, Darryl C Zeldin, Perry J Blackshear
Regulatory factor X4 (RFX4) isoform 1 is a recently discovered isoform of the winged helix transcription factor RFX4, which can bind to X-box consensus sequences that are enriched in the promoters of cilia-related genes. Early insertional mutagenesis studies in mice first identified this isoform, and demonstrated that it was crucial for mouse brain development. RFX4 isoform 1 is the only RFX4 isoform significantly expressed in the mouse fetal and adult brain. In this study, we evaluated conditional knock-out (KO) mice in which one or two floxed alleles of Rfx4 were deleted early in development through the use of a Sox2-Cre transgene...
2018: PloS One
https://www.readbyqxmd.com/read/29291210/the-role-of-the-placenta-in-prenatally-acquired-zika-virus-infection
#9
EDITORIAL
Mohammad Zare Mehrjardi, Farzaneh Shobeirian
Zika virus (ZIKV) is an arthropod-borne arbovirus from the family Flaviviridae , which has been recently confirmed to cause severe neurological abnormalities (such as microcephaly, brain parenchymal calcification, hydrocephalus, and malformations of cortical development) in the infected fetuses. The Placenta plays a multifold role in prenatally acquired ZIKV infection. It serves as a port of virus transmission to the fetus, and also can be directly affected by ZIKV leading to a diminished fetal blood supply or a disrupted/changed biological mediators' synthesis...
September 2017: Virusdisease
https://www.readbyqxmd.com/read/29229361/an-updated-literature-review-on-maternal-fetal-and-reproductive-disorders-of-toxoplasma-gondii-infection
#10
REVIEW
S Fallahi, A Rostami, M Nourollahpour Shiadeh, H Behniafar, S Paktinat
BACKGROUND: Toxoplasma gondii infection is one of the most prevalent infectious disease with worldwide distribution. Congenital toxoplasmosis is annually responsible for 1.20 million disability-adjusted life years around the world, but often it is overlooked many countries. METHODS: We performed an updated review to summarize the current researches on fetal, neonatal and maternal consequences of T. gondii infection and also adverse effects of toxoplasmosis on women reproductive organs...
March 2018: Journal of Gynecology Obstetrics and Human Reproduction
https://www.readbyqxmd.com/read/29167994/congenital-zika-virus-infection-a-neuropathological-review
#11
L Chimelli, E Avvad-Portari
BACKGROUND: A relationship between Zika virus (ZikV) infection in pregnancy and the occurrence of microcephaly was established during the Zika outbreak in Brazil (2015-2016). Neuropathological findings in congenital Zika syndrome helped to understand its pathogenetic mechanisms. RESULTS: The most relevant postmortem findings in the central nervous system (CNS) of fetuses and neonates infected with ZikV early in gestation are microcephaly with ex-vacuo ventriculomegaly and large head circumference associated with obstructive hydrocephalus due to severe midbrain and aqueduct distortion...
January 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29149698/ectrodactyly-in-a-chinese-patient-born-to-a-mother-with-neuromyelitis-optica-spectrum-disorder
#12
Yanyu Chang, Yaqing Shu, Xiaobo Sun, Chengfang Xu, Dan He, Ling Fang, Chen Chen, Xueqiang Hu, Allan Kermode, Wei Qiu
NMOSD develops primarily in women of childbearing age, and several previous studies have shown that the disorder may increase the risk of miscarriage. However, there are no reports, to our knowledge, of fetal malformation, other than neonatal hydrocephalus, related to NMOSD. We report a 30-year-old woman who experienced recurrent neuritis and who was seropositive for AQP4-IgG. She became pregnant, and the fetus was found to have ectrodactyly. Histological analysis of the placenta showed moderate inflammatory infiltration; however, whether fetal malformation in NMOSD is related to inflammation and AQP4-IgG remains to be determined...
January 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28966468/fetal-ventriculomegaly-and-herpes-encephalitis-following-primary-maternal-herpes-simplex-infection
#13
Jenna K Sloan, Chase R Cawyer, Nathan S Drever
Uteroplacental transmission of a primary herpes simplex virus (HSV) infection in pregnancy has been reported; however, HSV ventriculomegaly of the neonate has not been well documented in utero. We present a case of a 19-year-old woman who developed a primary HSV outbreak at 17 weeks of gestation and was treated with acyclovir. A congenital malformation scan at 18 weeks of gestation demonstrated no fetal abnormalities; however, an ultrasound at 33 weeks showed a new finding of ventriculomegaly. Additionally, hydrocephalus was confirmed with magnetic resonance imaging...
October 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28910784/fetal-surgery-for-myelomeningocele-a-systematic-review-and-meta-analysis-of-outcomes-in-fetoscopic-versus-open-repair
#14
Sandra K Kabagambe, Guy W Jensen, Yue Julia Chen, Melissa A Vanover, Diana L Farmer
BACKGROUND/OBJECTIVES: The Management of Myelomeningocele (MMC) Study (MOMS) showed that prenatal repair of MMC resulted in improved neurological outcomes but was associated with high rates of obstetrical complications. This study compares outcomes of open and fetoscopic MMC repair. DATA SOURCES: PubMed and Embase studies reporting outcomes of fetal MMC repair published since the completion of the MOMS. RESULTS: We analyzed 11 studies and found no difference in mortality or the rate of shunt placement for hydrocephalus...
September 15, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28885087/encephalocele-development-from-a-congenital-meningocele-case-report
#15
Gurpreet S Gandhoke, Ezequiel Goldschmidt, Robert Kellogg, Stephanie Greene
A fetal MRI study obtained at 21 weeks' gestation revealed a suboccipital meningocele without hydrocephalus. One day after term birth, MRI demonstrated an acquired cerebellar encephalocele, and MRI obtained 5 months later showed progressive enlargement of the encephalocele, still without obvious hydrocephalus. The patient underwent an operation in which an external ventricular drain was placed, the grossly normal cerebellum was reduced into the posterior fossa without resection, and the dural defect was closed...
November 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28859338/human-brain-abnormalities-associated-with-prenatal-alcohol-exposure-and-fetal-alcohol-spectrum-disorder
#16
Jessica S Jarmasz, Duaa A Basalah, Albert E Chudley, Marc R Del Bigio
Fetal alcohol spectrum disorder (FASD) is a common neurodevelopmental problem, but neuropathologic descriptions are rare and focused on the extreme abnormalities. We conducted a retrospective survey (1980-2016) of autopsies on 174 individuals with prenatal alcohol exposure or an FASD diagnosis. Epidemiologic details and neuropathologic findings were categorized into 5 age groups. Alcohol exposure was difficult to quantify. When documented, almost all mothers smoked tobacco, many abused other substances, and prenatal care was poor or nonexistent...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28851620/diagnosis-of-congenital-toxoplasmosis-in-a-renal-transplant-recipient-mother
#17
M Hermann, H Yéra, I Villena, B Cimon, E Thervet, A Benachi
We report the case of a first trimester toxoplasmosis infection in a renal transplant recipient. Real-time polymerase chain reaction in amniotic fluid at 18 weeks was negative for Toxoplasma gondii but at 26 weeks major fetal hydrocephalus was discovered leading to medical termination of pregnancy. Pathological examination confirmed lesions consistent with congenital toxoplasmosis. The herein case report, as well as data from the French reference centre for congenital Toxoplamosis (1835 cases in the past eight years), suggests that the strategy of management of pregnancy's first trimester Toxoplasmosis infection in patients treated by immunosuppressive therapy needs to be reconsidered...
October 2017: Journal of Gynecology Obstetrics and Human Reproduction
https://www.readbyqxmd.com/read/28815891/cystic-kidneys-in-fetal-walker-warburg-syndrome-with-pomt2-mutation-intrafamilial-phenotypic-variability-in-four-siblings-and-review-of-literature
#18
REVIEW
Marwa M Nabhan, Nour ElKhateeb, Daniela A Braun, Sungho Eun, Sahar N Saleem, Heon YungGee, Friedhelm Hildebrandt, Neveen A Soliman
Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28698301/prdm16-is-required-for-the-maintenance-of-neural-stem-cells-in-the-postnatal-forebrain-and-their-differentiation-into-ependymal-cells
#19
Issei S Shimada, Melih Acar, Rebecca J Burgess, Zhiyu Zhao, Sean J Morrison
We and others showed previously that PR domain-containing 16 (Prdm16) is a transcriptional regulator required for stem cell function in multiple fetal and neonatal tissues, including the nervous system. However, Prdm16 germline knockout mice died neonatally, preventing us from testing whether Prdm16 is also required for adult stem cell function. Here we demonstrate that Prdm16 is required for neural stem cell maintenance and neurogenesis in the adult lateral ventricle subventricular zone and dentate gyrus. We also discovered that Prdm16 is required for the formation of ciliated ependymal cells in the lateral ventricle...
June 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/28600017/comparison-of-prenatal-and-postnatal-management-of-patients-with-myelomeningocele
#20
REVIEW
Sergio Cavalheiro, Marcos Devanir Silva da Costa, Antonio Fernandes Moron, Jeffrey Leonard
Myelomeningocele (MMC) is a costly lifetime disease with many comorbidities, including sensory and motor lower limb disability, bladder/bowel dysfunction, scoliosis, club foot, and hydrocephalus. MMC treatment options have changed over time because routine use of fetal ultrasonography and MRI has provided prenatal diagnosis and the potential for fetal surgery. There is still no consensus on how to treat the MMC diagnoses prenatally, mainly related to the infrastructure required to operate on pregnant patients...
July 2017: Neurosurgery Clinics of North America
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