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Fetal hydrocephalus

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https://www.readbyqxmd.com/read/28910784/fetal-surgery-for-myelomeningocele-a-systematic-review-and-meta-analysis-of-outcomes-in-fetoscopic-versus-open-repair
#1
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
#2
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...
September 8, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28859338/human-brain-abnormalities-associated-with-prenatal-alcohol-exposure-and-fetal-alcohol-spectrum-disorder
#3
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
#4
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...
August 26, 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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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)...
May 3, 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
#13
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
#14
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
https://www.readbyqxmd.com/read/28369985/nongalenic-pial-arteriovenous-fistula-prenatal-diagnosis
#15
Cristina Martínez-Payo, Javier Sancho Saúco, Maria Miralles, Tirso Pérez Medina
Pial arteriovenous (AV) fistulae have rarely been diagnosed in utero. They are characterized by one or more pial arteries flowing directly into a cortical vein without any shunt or interposed capillary bed. In the fetus and the newborn up to 2 years of age, the most common clinical manifestation is heart failure resulting from fistula overload. Later on, hydrocephalus, focal neurologic deficits, headaches, seizures, and cerebral hemorrhage are the most common manifestations. We present a case of nongalenic pial AV fistula diagnosed in the 25th week of pregnancy, which resulted in intrauterine fetal death due to congestive heart failure...
April 3, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28368078/genotyping-of-toxoplasma-gondii-strain-directly-from-human-csf-samples-of-congenital-toxoplasmosis-clinical-case
#16
Chiara Pagliuca, Gabiria Pastore, Elena Scaglione, Annalisa Migliucci, Giuseppe Maria Maruotti, Annunziata Gaetana Cicatiello, Elena Salvatore, Marco Picardi, Josè Camilla Sammartino, Maria Consiglio Buonocore, Pasquale Martinelli, Emilia Iaccarino, Roberta Colicchio, Paola Salvatore
This report describes a case of congenital toxoplasmosis in a newborn in Southern Italy. A pregnant mother had been admitted at the 20th week of her pregnancy on account of pharyngodynia and laterocervical lymphadenopathy. Although serological testing of the mother's serum documented a seroconversion with positive IgG and IgM anti-Toxoplasma antibodies during II trimester, the woman refused to perform prenatal diagnosis for congenital toxoplasmosis. Fetal ultrasound scan already showed mild asymmetrical triventricular hydrocephaly and cerebral calcifications...
April 2017: New Microbiologica
https://www.readbyqxmd.com/read/28277363/fetoscopic-open-neural-tube-defect-repair-development-and-refinement-of-a-two-port-carbon-dioxide-insufflation-technique
#17
Michael A Belfort, William E Whitehead, Alireza A Shamshirsaz, Zhoobin H Bateni, Oluyinka O Olutoye, Olutoyin A Olutoye, David G Mann, Jimmy Espinoza, Erin Williams, Timothy C Lee, Sundeep G Keswani, Nancy Ayres, Christopher I Cassady, Amy R Mehollin-Ray, Magdalena Sanz Cortes, Elena Carreras, Jose L Peiro, Rodrigo Ruano, Darrell L Cass
OBJECTIVE: To describe development of a two-port fetoscopic technique for spina bifida repair in the exteriorized, carbon dioxide-filled uterus and report early results of two cohorts of patients: the first 15 treated with an iterative technique and the latter 13 with a standardized technique. METHODS: This was a retrospective cohort study (2014-2016). All patients met Management of Myelomeningocele Study selection criteria. The intraoperative approach was iterative in the first 15 patients and was then standardized...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28260505/copy-number-variations-with-isolated-fetal-ventriculomegaly
#18
P Hu, Y Wang, R Sun, L Cao, X Chen, C Liu, C Luo, D Ma, W Wang, X Fu, W Shi, S Yi, K Zhang, H Liu, Z Xu
BACKGROUND: Copy Number Variations (CNVs) are an important genetic cause of a number of neurodevelopmental disorders (NDs). However, the association between CNVs and the development and prognosis of isolated fetal ventriculomegaly (IMV) is unclear. OBJECTIVES: To investigate possible associations between CNVs and the development of fetal IMV. METHODS: This retrospective study recruited 154 subjects with ultrasound-confirmed fetal IMV and 190 subjects in a control cohort who underwent a high-risk prenatal serum screening program...
March 3, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28125818/neural-stem-cells-and-fetal-onset-hydrocephalus
#19
Esteban M Rodríguez, María M Guerra
Fetal-onset hydrocephalus is not only a disorder of cerebrospinal fluid (CSF) dynamics, but also a brain disorder. How can we explain the inborn and, so far, irreparable neurological impairment in children born with hydrocephalus? We hypothesize that a cell junction pathology of neural stem cells (NSC) leads to two inseparable phenomena: hydrocephalus and abnormal neurogenesis. All neurons, glial cells, and ependymal cells of the mammalian central nervous system originate from the NSC forming the ventricular zone (VZ) and the neural progenitor cells (NPC) forming the subventricular zone...
January 27, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28114843/the-impact-of-fetal-middle-cerebral-artery-doppler-on-the-outcome-of-congenital-hydrocephalus
#20
Nail Obeidat, Bahauddin Sallout, Badi Albaqawi, Wajeih Al AlAali
OBJECTIVES: The objective of this study is to investigate the impact of abnormal middle cerebral artery (MCA) Doppler on the perinatal mortality in fetuses with congenital hydrocephalus (CH). METHODS: A prospective study of all fetuses with CH who delivered at our hospital over a period of 7 years. Data were obtained from the ultrasound, Labor room and intensive neonatal care unit (NICU) database. The Perinatal mortality rates were evaluated in relation to the following measures, associated congenital anomalies, cortical mantle thickness (CMT), and MCA Doppler abnormalities (absent or reversed diastole)...
February 9, 2017: Journal of Maternal-fetal & Neonatal Medicine
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