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congenital hydrocephalus

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https://www.readbyqxmd.com/read/28528738/our-initial-experience-with-ventriculo-epiplooic-shunt-in-treatment-of-hydrocephalus-in-two-centers
#1
Valentin Titus Grigorean, Aurelia Mihaela Sandu, Mihai Popescu, Ioan Stefan Florian, Cristian Dumitru Lupascu, Corina Lupascu Ursulescu
INTRODUCTION: Hydrocephalus represents impairment in cerebrospinal fluid (CSF) dynamics. If the treatment of hydrocephalus is considered difficult, the repeated revisions of ventriculo-peritoneal (VP) shunts are even more challenging. OBJECTIVE: The aim of this article is to evaluate the efficiency of ventriculo-epiplooic (VEp) shunt as a feasible alternative in hydrocephalic patients. MATERIAL AND METHODS: A technical modification regarding the insertion of peritoneal catheter was imagined: midline laparotomy 8-10cm long was performed in order to open the peritoneal cavity; the great omentum was dissected between its two layers; we placed the distal end of the catheter between the two epiplooic layers; a fenestration of 4cm in diameter into the visceral layer was also performed...
May 11, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28527269/-first-evidence-of-lymphocytic-choriomeningitis-virus-arenavirus-infection-in-mus-musculus-rodents-captured-in-the-urban-area-of-the-municipality-of-sincelejo-sucre-colombia
#2
Anais Castellar, Marco Guevara, Juan D Rodas, Andrés F Londoño, Esteban Arroyave, Francisco J Díaz, Silvana Levis, Pedro J Blanco
INTRODUCTION: The lymphocytic choriomeningitis virus is an Old World arenavirus that infects Mus musculus, and can cause congenital hydrocephalus, chorioretinitis and multisystemic failure in transplant human recipients. Although the disease has not been clinically diagnosed in Colombia yet, there have been reports of infection with the Pichindé virus in rodents from Cauca and Valle del Cauca departments, and with the Guanarito virus in rodents from Córdoba department. OBJECTIVE: To identify the lymphocytic choriomeningitis virus from Mus musculus captured in the municipality of Sincelejo...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28521038/ventricular-zone-disruption-in-human-neonates-with-intraventricular-hemorrhage
#3
James P McAllister, Maria Montserrat Guerra, Leandro Castaneyra Ruiz, Antonio J Jimenez, Dolores Dominguez-Pinos, Deborah Sival, Wilfred den Dunnen, Diego M Morales, Robert E Schmidt, Esteban M Rodriguez, David D Limbrick
To determine if ventricular zone (VZ) and subventricular zone (SVZ) alterations are associated with intraventricular hemorrhage (IVH) and posthemorrhagic hydrocephalus, we compared postmortem frontal and subcortical brain samples from 12 infants with IVH and 3 nonneurological disease controls without hemorrhages or ventriculomegaly. Birth and expiration estimated gestational ages were 23.0-39.1 and 23.7-44.1 weeks, respectively; survival ranges were 0-42 days (median, 2.0 days). Routine histology and immunohistochemistry for neural stem cells (NSCs), neural progenitors (NPs), multiciliated ependymal cells (ECs), astrocytes (AS), and cell adhesion molecules were performed...
May 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28516217/prenatal-surgery-for-myelomeningocele-review-of-the-literature-and-future-directions
#4
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...
May 17, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28502730/overgrowth-syndromes-caused-by-somatic-variants-in-the-phosphatidylinositol-3-kinase-akt-mammalian-target-of-rapamycin-pathway
#5
REVIEW
Gozde Akgumus, Fengqi Chang, Marilyn M Li
Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28500065/loss-of-mpdz-impairs-ependymal-cell-integrity-leading-to-perinatal-onset-hydrocephalus-in-mice
#6
Anja Feldner, M Gordian Adam, Fabian Tetzlaff, Iris Moll, Dorde Komljenovic, Felix Sahm, Tobias Bäuerle, Hiroshi Ishikawa, Horst Schroten, Thomas Korff, Ilse Hofmann, Hartwig Wolburg, Andreas von Deimling, Andreas Fischer
Hydrocephalus is a common congenital anomaly. LCAM1 and MPDZ (MUPP1) are the only known human gene loci associated with non-syndromic hydrocephalus. To investigate functions of the tight junction-associated protein Mpdz, we generated mouse models. Global Mpdz gene deletion or conditional inactivation in Nestin-positive cells led to formation of supratentorial hydrocephalus in the early postnatal period. Blood vessels, epithelial cells of the choroid plexus, and cilia on ependymal cells, which line the ventricular system, remained morphologically intact in Mpdz-deficient brains...
May 12, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28479801/management-and-outcome-of-infantile-hydrocephalus-in-a-tertiary-health-institution-in-nigeria
#7
Ayodeji Salman Yusuf, Habeeb Kayodele Omokanye, Nurudeen Abiola Adeleke, Rukeme Oluaseun Akanbi, Sikiru Olalekan Ajiboye, Hakeem Gbadebo Ibrahim
BACKGROUND: Hydrocephalus is a leading cause of disability among children worldwide. The outcome depends on morphology and whether insult is pre- or post-natal. There has been improvement in morbidity in developed countries due to improved surgical care. A paucity of trained personnel impacts negatively on care and outcome of infants with hydrocephalus in many low-income countries resulting poorer outcome. We conducted an audit of patients with hydrocephalus managed in our institution to determine common etiology and outcome...
April 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28460636/hydrocephalus-due-to-multiple-ependymal-malformations-is-caused-by-mutations-in-the-mpdz-gene
#8
Pascale Saugier-Veber, Florent Marguet, François Lecoquierre, Homa Adle-Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, Marie Brasseur-Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquerrière
Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive. Congenital hydrocephalus is either syndromic or non-syndromic, and in the latter no cause is found in more than half of the patients. In patients with isolated hydrocephalus, L1CAM mutations represent the most common aetiology. More recently, a founder mutation has also been reported in the MPDZ gene in foetuses presenting massive hydrocephalus, but the neuropathology remains unknown...
May 1, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28424008/olfactory-development-part-2-neuroanatomic-maturation-and-dysgeneses
#9
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/28387641/papilledema-in-children-with-hydrocephalus-incidence-and-associated-factors
#10
Haeng Jin Lee, Ji Hoon Phi, Seung-Ki Kim, Kyu-Chang Wang, Seong-Joon Kim
OBJECTIVE The aim of this study was to report the incidence of and the factors associated with papilledema in children with hydrocephalus. METHODS Patients younger than 15 years of age who had been diagnosed with hydrocephalus and treated by extra-ventricular drainage or ventriculoperitoneal shunt surgery between 2005 and 2015 were retrospectively reviewed. Factors including patient age and sex, etiology of hydrocephalus, duration of signs or symptoms, intracranial pressure (ICP), and presence of papilledema were evaluated...
April 7, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28371265/oral-facial-digital-syndrome-type-1-in-males-congenital-heart-defects-are-included-in-its-phenotypic-spectrum
#11
Arjan Bouman, Mariëlle Alders, Roelof Jan Oostra, Elisabeth van Leeuwen, Nikki Thuijs, Anne-Marie van der Kevie-Kersemaekers, Merel van Maarle
Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is presumed to be lethal in males, mostly in the first or second trimester of pregnancy. Live born males with OFD1 are a rare occurrence, with only five reported patients to date. In four patients the presence of a congenital heart defect (CHD) was observed...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28368078/genotyping-of-toxoplasma-gondii-strain-directly-from-human-csf-samples-of-congenital-toxoplasmosis-clinical-case
#12
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 3, 2017: New Microbiologica
https://www.readbyqxmd.com/read/28347422/cord-cystic-cavities-syringomyelia-and-prominent-central-canal
#13
Blaise V Jones
Syringomyelia is the term given to cystic cavities in the spinal cord, most of which are associated with congenital malformations of the craniocervical junction and represent dilation of the central canal of the cord. As such, syrinxes can be considered analogous to hydrocephalus. The exact etiology of syrinx formation remains a subject of debate, but there is ample evidence that they are the result of obstruction of the normal flow of cerebrospinal fluid between the intracranial and spinal compartments. The chances that a syrinx will progress over time are much greater when they are associated with a causative lesion (Chiari malformation, tumor, infection, and trauma), but asymptomatic central canal dilation may be a stable incidental finding...
April 2017: Seminars in Ultrasound, CT, and MR
https://www.readbyqxmd.com/read/28344182/repair-of-frontoethmoidal-encephalocele-in-the-philippines-an-account-of-30-cases-between-2008-2013
#14
Amanda-Lynn Marshall, Pradeep Setty, Mark Hnatiuk, Daniel R Pieper
BACKGROUND: Frontoethmoidal encephalocele is a congenital abnormality of the anterior skull base involving herniation of cranial contents through a midline skull defect. Patency of the foramen cecum, along with other multifactorial variables, contribute to the development of frontoethmoidal encephaloceles. Due to limited resources, financial constraints, and lack of surgical expertise, repair of frontoethmoidal encephaloceles are limited in developing countries. METHODS: Between 2008-2013 an interdisciplinary team composed of neurosurgeons, craniofacial surgeons, otolaryngologists, plastic surgeons and nursing personnel, conducted surgical mission trips to Davao City in Mindanao, Philippines...
March 23, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28332242/bilateral-oblique-facial-clefts-rudimentary-eyes-and-hydrocephalus-in-an-aborted-equine-foetus
#15
J S Agerholm, H G Pedersen, F J McEvoy, S Heegaard
Knowledge of congenital malformations and their causes in horses is generally sparse. Such conditions require more scientific attention to improve their diagnostics and inform prevention strategies. Here, a unique syndrome of bilateral oblique facial clefts (meloschisis), rudimentary eyes and hydrocephalus is reported in an equine foetus spontaneously aborted at gestation day 224. The cause of abortion was considered to be intrauterine death caused by umbilical cord torsions and subsequent compromised blood flow, but the aetiology of the malformation could not be determined...
March 22, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28260505/copy-number-variations-with-isolated-fetal-ventriculomegaly
#16
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/28241263/bridging-knowledge-gaps-to-understand-how-zika-virus-exposure-and-infection-affect-child-development
#17
Bill G Kapogiannis, Nahida Chakhtoura, Rohan Hazra, Catherine Y Spong
Importance: The Zika virus (ZIKV) epidemic has profoundly affected the lives of children and families across the Americas. As the number of children born with ZIKV-related complications continues to grow, the long-term developmental trajectory for these children and the effect on their families remains largely unknown. In September 2016, the Eunice Kennedy Shriver National Institute of Child Health and Human Development and partner National Institutes of Health institutes convened a workshop to develop a research agenda to improve the evaluation, monitoring, and management of neonates, infants, or children affected by ZIKV and its complications...
May 1, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28217159/managing-tracheal-extubation-in-infants-with-stridor-and-congenital-neuraxial-anomalies
#18
Deepti Saigal, Pragati Ganjoo, Megha U Sharma, Daljit Singh
Stridor is a serious complication of congenital neuraxial anomalies, which though, can get completely resolved with early neurosurgical correction of the anomaly. However, stridor relief may or may not be achieved soon after surgery. Persistent postoperative stridor can potentially cause extubation failure that may be difficult to handle in small children. There are no extubation guidelines for difficult pediatric airways as yet, and fewer appropriate airway-assist devices for routine use. Management of an infant with occipital encephalocele, hydrocephalus and bilateral abductor vocal cord palsy, who developed post-extubation respiratory distress due to stridor is discussed, together with the relevant tracheal extubation issues in such cases...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28213196/rate-and-risk-factors-for-shunt-revision-in-pediatric-patients-with-hydrocephalus-a-population-based-study
#19
Joona Tervonen, Ville Leinonen, Juha E Jääskeläinen, Susanna Koponen, Terhi J Huttunen
BACKGROUND: Ventriculoperitoneal shunt (VPS) is a common treatment for patients with hydrocephalus (HC). VPS is associated with complications that may lead to shunt revisions. We studied the surgical outcome of pediatric patients with HC in a population-based setting. METHODS: The medical charts and imaging findings of 80 patients ≤16 years old who required VPS secondary to HC were studied. RESULTS: Mean age at time of initial shunt placement was 3...
May 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28212403/cerebrospinal-fluid-biomarkers-of-infantile-congenital-hydrocephalus
#20
David D Limbrick, Brandon Baksh, Clinton D Morgan, Gakwaya Habiyaremye, James P McAllister, Terrie E Inder, Deanna Mercer, David M Holtzman, Jennifer Strahle, Michael J Wallendorf, Diego M Morales
INTRODUCTION: Hydrocephalus is a complex neurological disorder with a pervasive impact on the central nervous system. Previous work has demonstrated derangements in the biochemical profile of cerebrospinal fluid (CSF) in hydrocephalus, particularly in infants and children, in whom neurodevelopment is progressing in parallel with concomitant neurological injury. The objective of this study was to examine the CSF of children with congenital hydrocephalus (CHC) to gain insight into the pathophysiology of hydrocephalus and identify candidate biomarkers of CHC with potential diagnostic and therapeutic value...
2017: PloS One
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