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Fetal hydrocephalus

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https://www.readbyqxmd.com/read/29298325/conditional-ablation-of-the-rfx4-isoform-1-transcription-factor-allele-dosage-effects-on-brain-phenotype
#1
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
#2
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/a-literature-review-on-maternal-fetal-and-reproductive-disorders-of-toxoplasma-gondii-infection
#3
REVIEW
Shirzad Fallahi, Ali Rostami, Malihe Nourollahpour Shiadeh, Hamed Behniafar, Shahrokh 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...
December 8, 2017: Journal of Gynecology Obstetrics and Human Reproduction
https://www.readbyqxmd.com/read/29167994/congenital-zika-virus-infection-a-neuropathological-review
#4
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...
November 22, 2017: 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
#5
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...
November 8, 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28966468/fetal-ventriculomegaly-and-herpes-encephalitis-following-primary-maternal-herpes-simplex-infection
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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...
August 17, 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
#12
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
#13
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
https://www.readbyqxmd.com/read/28596193/mr-imaging-diagnosis-of-diencephalic-mesencephalic-junction-dysplasia-in-fetuses-with-developmental-ventriculomegaly
#14
M Severino, A Righini, D Tortora, L Pinelli, C Parazzini, G Morana, P Accorsi, V Capra, D Paladini, A Rossi
Diencephalic-mesencephalic junction dysplasia is a rare malformation characterized by a poorly defined junction between the diencephalon and the mesencephalon, associated with a characteristic butterfly-like contour of the midbrain (butterfly sign). This condition may be variably associated with other brain malformations, including callosal abnormalities and supratentorial ventricular dilation, and is a potential cause of developmental hydrocephalus. Here, we have reported 13 fetuses with second-trimester obstructive ventriculomegaly and MR features of diencephalic-mesencephalic junction dysplasia, correlating the fetal imaging with available pathology and/or postnatal data...
June 8, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28555310/antenatal-management-of-fetal-neurosurgical-diseases
#15
Sergio Cavalheiro, Marcos Devanir Silva da Costa, Jardel Nicacio Mendonça, Patricia Alesssandra Dastoli, Italo Capraro Suriano, Mauricio Mendes Barbosa, Antonio Fernandes Moron
The advance in the imaging tools during the pregnancy (ultrasound and magnetic resonance) allowed the early diagnose of many fetal diseases, including the neurological conditions. This progress brought the neurosurgeons the possibility to propose treatments even before birth. Myelomeningocele is the most recognized disease that can be treated during pregnancy with a high rate of success. Additionally, this field can be extended to other conditions such as hydrocephalus and encephaloceles. However, each one of these diseases has nuances in the diagnostic evaluation that should fit the requirements to perform the fetal procedure and overbalance the benefits to the patients...
July 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28516217/prenatal-surgery-for-myelomeningocele-review-of-the-literature-and-future-directions
#16
Gregory G Heuer, Julie S Moldenhauer, N Scott Adzick
Open spina bifida or myelomeningocele (MMC) is one of the most common serious congenital malformations. Historically, this condition has been treated with closure of the MMC defect shortly after birth. The goal of postnatal closure is to cover the exposed spinal cord and prevent infection. However, postnatal surgery does not reverse or prevent the neurologic injury seen in MMC, reverse hindbrain herniation, or prevent hydrocephalus. The neurologic defects result from primary incomplete neurulation and secondary chronic prenatal damage to the exposed neural elements through mechanical and chemical trauma...
July 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28510072/fetal-ventriculomegaly-diagnosis-treatment-and-future-directions
#17
Jared M Pisapia, Saurabh Sinha, Deborah M Zarnow, Mark P Johnson, Gregory G Heuer
Fetal ventriculomegaly (VM) refers to the enlargement of the cerebral ventricles in utero. It is associated with the postnatal diagnosis of hydrocephalus. VM is clinically diagnosed on ultrasound and is defined as an atrial diameter greater than 10 mm. Because of the anatomic detailed seen with advanced imaging, VM is often further characterized by fetal magnetic resonance imaging (MRI). Fetal VM is a heterogeneous condition with various etiologies and a wide range of neurodevelopmental outcomes. These outcomes are heavily dependent on the presence or absence of associated anomalies and the direct cause of the ventriculomegaly rather than on the absolute degree of VM...
July 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28470384/first-60-fetal-in-utero-myelomeningocele-repairs-at-saint-louis-fetal-care-institute-in-the-post-moms-trial-era-hydrocephalus-treatment-outcomes-endoscopic-third-ventriculostomy-versus-ventriculo-peritoneal-shunt
#18
Samer K Elbabaa, Anne M Gildehaus, Matthew J Pierson, J Andrew Albers, Emanuel J Vlastos
INTRODUCTION: The published results of the Management of Myelomeningocele Study (MOMS) trial in 2011 showed improved outcomes (reduced need for shunting, decreased incidence of Chiari II malformation, and improved scores of mental development and motor function) in the fetal prenatal repair group compared to the postnatal group. Historically, endoscopic third ventriculostomy (ETV) remains as a controversial hydrocephalus treatment option with high failure rates in pediatric patients with a history of myelomeningocele (MMC)...
July 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28457106/detection-rate-and-sonographic-signs-of-trisomy-21-fetuses-at-14-17-weeks-of-gestation
#19
Eliezer Bronshtein, Ido Solt, Moshe Bronshtein, Ayala Gover, Igal Wolman, Zeev Blumenfeld
BACKGROUND: Early prenatal ultrasound is an important part of prenatal screening in Israel. No studies have described the rate of trisomy 21 [T21] identification at 14-17 weeks gestation. OBJECTIVES: To describe the rate of T21 identification by transvaginal sonograms (TVS) at 14-17 weeks gestation. METHODS: We conducted a historical prospective study. Since 1986, early TVS of 72,000 fetuses at 14-17 weeks gestation have been prospectively recorded together with prenatal screening data at a private ultrasound center (AL-KOL, Haifa)...
January 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28424008/olfactory-development-part-2-neuroanatomic-maturation-and-dysgeneses
#20
REVIEW
Harvey B Sarnat, Laura Flores-Sarnat
Olfactory axons project from nasal epithelium to the primitive telencephalon before olfactory bulbs form. Olfactory bulb neurons do not differentiate in situ but arrive via the rostral migratory stream. Synaptic glomeruli and concentric laminar architecture are unlike other cortices. Fetal olfactory maturation of neuronal differentiation, synaptogenesis, and myelination remains incomplete at term and have a protracted course of postnatal development. The olfactory ventricular recess involutes postnatally but dilates in congenital hydrocephalus...
May 2017: Journal of Child Neurology
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