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congenital hydrocephalus

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https://www.readbyqxmd.com/read/29166295/nursing-care-of-infants-with-a-ventriculoperitoneal-shunt
#1
Rachel A Joseph, Michaela R Killian, Emily E Brady
BACKGROUND: Infants with congenital or posthemorrhagic hydrocephalus may require a ventriculoperitoneal (VP) shunt to divert the flow of cerebrospinal fluid, thus preventing increase in intracranial pressure. Knowledge on various aspects of caring for a child with a VP shunt will enable new and experienced nurses to better care for these infants and equip parents for ongoing care at home. PURPOSE: To review the nurses' role in care of infants with hydrocephalus, care after VP shunt placement, prevention of complications, and parental preparation for home care...
November 20, 2017: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/29163345/fluid-distribution-pattern-in-adult-onset-congenital-idiopathic-and-secondary-normal-pressure-hydrocephalus-implications-for-clinical-care
#2
Shigeki Yamada, Masatsune Ishikawa, Kazuo Yamamoto
Objective: In spite of growing evidence of idiopathic normal-pressure hydrocephalus (NPH), a viewpoint about clinical care for idiopathic NPH is still controversial. A continuous divergence of viewpoints might be due to confusing classifications of idiopathic and adult-onset congenital NPH. To elucidate the classification of NPH, we propose that adult-onset congenital NPH should be explicitly distinguished from idiopathic and secondary NPH. Methods: On the basis of conventional CT scan or MRI, idiopathic NPH was defined as narrow sulci at the high convexity in concurrent with enlargement of the ventricles, basal cistern and Sylvian fissure, whereas adult-onset congenital NPH was defined as huge ventricles without high-convexity tightness...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28987855/comparison-of-quality-metrics-for-pediatric-shunt-surgery-and-proposal-of-the-negative-shunt-revision-rate
#3
Thomas Beez, Hans-Jakob Steiger
OBJECTIVE: Shunt surgery is common in pediatric neurosurgery and is associated with relevant complication rates. We sought to compare previously published metrics in a single data set and propose the Negative Shunt Revision Rate (NSRR) as a new quality metric, defined as the proportion of shunt explorations revealing a properly working system. METHODS: A retrospective analysis of our shunt surgery activity in 2015 was performed. Demographic, clinical and radiological variables were extracted from electronic medical notes...
October 5, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28987185/cerebrospinal-fluid-circulation-and-hydrocephalus
#4
Ville Leinonen, Ritva Vanninen, Tuomas Rauramaa
Hydrocephalus (HC) is classically defined as dynamic imbalance between the production and absorption of cerebrospinal fluid (CSF) leading to enlarged ventricles. Potential causative factors include various brain disorders like tumors causing obstruction of CSF flow within the ventricular system or the subarachnoid space. Classification of HC is based on the site of CSF flow obstruction guiding optimal treatment, with endoscopic third ventriculostomy in intraventricular obstruction and CSF shunt in communicating HC...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28966468/fetal-ventriculomegaly-and-herpes-encephalitis-following-primary-maternal-herpes-simplex-infection
#5
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/28942698/neuroimaging-findings-using-transfontanellar-ultrasound-in-newborns-with-microcephaly-a-possible-association-with-congenital-zika-virus-infection
#6
Ana Sofia França Cruz Ximenes, Pedro Pires, Heron Werner, Patricia Mello Jungmann, Epitácio Leite Rolim Filho, Etiene Pedrosa Andrade, Roberto Souza Lemos, Alberto Borges Peixoto, Mohammad Zare Mehrjardi, Gabriele Tonni, Edward Araujo Júnior
OBJECTIVE: The objective of this study is to determine the main neuroimaging findings of microcephalic newborns with possible Zika virus (ZIKV) intrauterine infection using transfontanellar cranial ultrasound. METHODS: We performed a retrospective study to describe the main neuroimaging findings in newborns with microcephaly and possible association with congenital ZIKV infection. Microcephaly was defined in the postnatal period using transfontanellar cranial examination which was performed using both two- (2D) and three-dimensional (3D) ultrasound...
October 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28926478/characterization-of-spontaneous-hydrocephalus-development-in-the-young-atherosclerosis-prone-mice
#7
Chuanguo Liu, Guorong Li, Pingping Wang, Yan Wang, Jie Pan
Little has been reported on whether abnormal lipid metabolism affects hydrocephalus, although congenital malformations and infectious diseases are major causal factors for hydrocephalus development. In a study on the pathogenesis of atherogenesis in mice, we unexpectedly discovered that hydrocephalus occurred in partial apolipoptotein E (apoE) and low-density lipoprotein receptor (LDLR) double-knockout (apoE/LDLR) mice fed either chow or a high-fat and high-cholesterol diet between the ages of 4 and 12 weeks...
November 8, 2017: Neuroreport
https://www.readbyqxmd.com/read/28885094/frontal-and-occipital-horn-ratio-is-associated-with-multifocal-intraparenchymal-hemorrhages-in-neonatal-shunted-hydrocephalus
#8
Soliman Oushy, Jonathon J Parker, Kristen Campbell, Claire Palmer, Corbett Wilkinson, Nicholas V Stence, Michael H Handler, David M Mirsky
OBJECTIVE Placement of a cerebrospinal fluid diversion device (i.e., shunt) is a routine pediatric neurosurgical procedure, often performed in the first weeks of life for treatment of congenital hydrocephalus. In the postoperative period, shunt placement may be complicated by subdural, catheter tract, parenchymal, and intraventricular hemorrhages. The authors observed a subset of infants and neonates who developed multifocal intraparenchymal hemorrhages (MIPH) following shunt placement and sought to determine any predisposing perioperative variables...
November 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28885087/encephalocele-development-from-a-congenital-meningocele-case-report
#9
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/28876688/management-of-myelomeningocele-in-the-province-of-kwazulu-natal-south-africa
#10
M N Mnguni, B Enicker, T E Madiba
BACKGROUND: Spina bifida is the most common of congenital anomalies of the central nervous system that are compatible with life. The most frequent form is myelomeningocele. METHOD: Setting: Neurosurgery Unit, Inkosi Albert Luthuli Central Hospital. Patients: Consecutive children with diagnosis myelomeningocele who were managed at from January 2006 to December 2014. Design: Retrospective analysis of children with myelomeningocele. Multiple logistic regression analysis identified clinical, demographic and surgical variables that were associated with outcome...
June 2017: South African Journal of Surgery. Suid-Afrikaanse Tydskrif Vir Chirurgie
https://www.readbyqxmd.com/read/28851620/diagnosis-of-congenital-toxoplasmosis-in-a-renal-transplant-recipient-mother
#11
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
#12
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/28815096/a-case-of-congenital-brainstem-oligodendroglioma-pathology-findings-and-review-of-the-literature
#13
Stefan Kostadinov, Suzanne de la Monte
Congenital and perinatal primary brain neoplasms are extremely rare. Brainstem neoplasms in the perinatal and neonatal period are typically of high-grade nature and have poor prognoses with survival rates of less than 2 years from diagnosis. Herein, we report an unusual case of congenital anaplastic oligodendroglioma that arose in the pons and was detected as diffuse pontine glioma on in utero imaging studies during prenatal evaluation at 26 weeks' gestation. A male infant was delivered at 36.4 weeks of gestation via Cesarean section who developed progressive dyspnea shortly after birth...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28777121/raf1-variants-causing-biventricular-hypertrophic-cardiomyopathy-in-two-preterm-infants-further-phenotypic-delineation-and-review-of-literature
#14
Danielle Thompson, Jessica Patrick-Esteve, Jeffrey W Surcouf, Dana Rivera, Bianca Castellanos, Pooja Desai, Christian Lilje, Yves Lacassie, Michael Marble, Regina Zambrano
Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain...
August 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28768473/a-de-novo-missense-mutation-of-fgfr2-causes-facial-dysplasia-syndrome-in-holstein-cattle
#15
Jørgen S Agerholm, Fintan J McEvoy, Steffen Heegaard, Carole Charlier, Vidhya Jagannathan, Cord Drögemüller
BACKGROUND: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. RESULTS: Seven malformed calves were submitted examination...
August 2, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28761539/extensive-intracranial-calcification-of-pseudo-torch-syndrome-with-features-of-dandy-walker-malformation
#16
Ashis Patnaik, Sudhansu Sekhar Mishra, Srikanta Das
Pseudo-TORCH syndrome or congenital infection-like syndrome is a group of conditions which resemble congenital infections such as those caused by toxoplasmosis, rubella, cytomegalovirus (CMV), herpes (TORCH) group of organisms, clinico-radiologically, but serological tests are negative for the organisms. One of the variety shows features such as microcephaly, extensive intracranial calcification showing gross resemblance to congenital CMV infection, making its other name as microcephaly intracranial calcification syndrome (MICS)...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28730252/morphological-imaging-and-surgical-aspects-in-a-complex-case-of-uterine-leiomyosarcoma-case-report-and-review-of-the-literature
#17
Aida TincuŢa Petca, Simona Vlădăreanu, Dan Cristian Radu, Mihaela BoŢ, Costin Berceanu, Bogdan Stelian Mastalier Manolescu, Cosmin Medar, Răzvan Cosmin Petca
Leiomyosarcoma is a rare condition so there are relatively few and small case series and no prospective studies to provide clear guidelines regarding management. We report on a case that presents some particularities that further underline diagnostic and treatment difficulties posed by the affliction of such a rare tumor. This is the case of a 43-year-old woman who had a large tumor arising from the uterus, with a spectacular growth rate over a short period. The patient, with congenital spastic tetraparesis and hydrocephalus, came for belly enlargement with rapid increase in size over the previous two months...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28721594/exome-analysis-in-an-estonian-multiplex-family-with-neural-tube-defects-a-case-report
#18
Liina Pappa, Mart Kals, Paula Ann Kivistik, Andres Metspalu, Ann Paal, Tiit Nikopensius
INTRODUCTION: Neural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydrocephalus, is highly heterogeneous, with multiple genes/loci and both gene-gene and gene-environment interactions involved. Hence, the variation in outcomes also most likely relates to a combination of the severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits...
July 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28674724/infantile-scimitar-syndrome-with-unusual-associations
#19
Abullah Al-Shamrani, Reem S AlSadi, Motea E Elhoury, Adel S AlHarbi
Scimitar syndrome is a variant of partial anomalous pulmonary venous connection (PAPVC), in which all or part of the right lung is drained by right pulmonary veins that anomalously connect to the inferior vena cava (IVC). The affected lung and its associated airways are often hypoplastic. In addition, aortopulmonary collateral vessels may be involved on the affected side, causing sequestration of that side; such involvement is commonly associated with cardiac defects. We report a case of infantile scimitar syndrome that involved a typical association with the right lung, but with extremely unusual associations with congenital hydrocephalus and heart blockage...
July 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28643040/management-of-an-unusual-recurrent-neurenteric-cyst-in-an-infant-case-report-and-review-of-the-literature
#20
Darian R Esfahani, Laura Burokas, Henry G Brown, Yoon S Hahn, Dimitrios Nikas
PURPOSE: Neurenteric cysts are rare congenital remnants formed by a failure of separation between endoderm and ectoderm in utero. METHODS: We describe a case of a 7-month-old male with a large cervical neurenteric cyst presenting with intermittent neck stiffness and irritability. RESULTS: This cyst was resected, recurred, and required repeat surgery. The patient's postoperative course included aseptic meningitis and hydrocephalus requiring ventriculoperitoneal shunt and later management of tethered cord, necessitating detethering...
June 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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