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congenital hydrocephalus

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https://www.readbyqxmd.com/read/27867342/the-family-of-crumbs-genes-and-human-disease
#1
REVIEW
Anne M Slavotinek
The family of vertebrate Crumbs proteins, homologous to Drosophila Crumbs (Crb), share large extracellular domains with epidermal growth factor-like repeats and laminin-globular domains, a single transmembrane domain, and a short intracellular C-terminus containing a single membrane proximal 4.1/ezrin/radixin/moesin-binding domain and PSD-95/Discs large/ZO-1-binding motifs. There are 3 Crb genes in humans - Crumbs homolog-1 (CRB1), Crumbs homolog-2 (CRB2), and Crumbs homolog-3 (CRB3). Bilallelic loss-of-function mutations in CRB1 cause visual impairment, with Leber's congenital amaurosis and retinitis pigmentosa, whereas CRB2 mutations are associated with raised maternal serum and amniotic fluid alpha feto-protein levels, ventriculomegaly/hydrocephalus, and renal disease, ranging from focal segmental glomerulosclerosis to congenital Finnish nephrosis...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27815765/are-shunt-revisions-associated-with-iq-in-congenital-hydrocephalus-a-meta-analysis
#2
REVIEW
C Nikki Arrington, Ashley L Ware, Yusra Ahmed, Paulina A Kulesz, Maureen Dennis, Jack M Fletcher
Although it is generally acknowledged that shunt revisions are associated with reductions in cognitive functions in individuals with congenital hydrocephalus, the literature yields mixed results and is inconclusive. The current study used meta-analytic methods to empirically synthesize studies addressing the association of shunt revisions and IQ in individuals with congenital hydrocephalus. Six studies and three in-house datasets yielded 11 independent samples for meta-analysis. Groups representing lower and higher numbers of shunt revisions were coded to generate effect sizes for differences in IQ scores...
December 2016: Neuropsychology Review
https://www.readbyqxmd.com/read/27798989/maternal-environmental-risk-factors-for-congenital-hydrocephalus-a-systematic-review
#3
Aristotelis V Kalyvas, Theodosis Kalamatianos, Mantha Pantazi, Georgios D Lianos, George Stranjalis, George A Alexiou
OBJECTIVE Congenital hydrocephalus (CH) is one of the most frequent CNS congenital malformations, representing an entity with serious pathological consequences. Although several studies have previously assessed child-related risk factors associated with CH development, there is a gap of knowledge on maternal environmental risk factors related to CH. The authors have systematically assessed extrinsic factors in the maternal environment that potentially confer an increased risk of CH development. METHODS The Cochrane Library, MEDLINE, and EMBASE were systematically searched for works published between 1966 and December 2015 to identify all relevant articles published in English...
November 2016: Neurosurgical Focus
https://www.readbyqxmd.com/read/27795889/sturge-weber-syndrome-with-intracerebral-hemorrhage-a-case-report
#4
Masashi Chonan, Yasuhiro Suzuki, Shinya Haryu, Shoji Mashiyama, Teiji Tominaga
INTRODUCTION: Sturge-Weber syndrome (SWS) is a rare congenital disease that affects the brain, skin, and eyes, and is a sporadically occurring neurocutaneous syndrome that affects intracerebral veins, which is associated with venous thrombosis. However, intracranial hemorrhage in patients with SWS is rare. We herein report a rare case of SWS with intracerebral hemorrhage derived from sinus thrombosis. CASE DESCRIPTION: A 62-year-old man suddenly fell into a coma and was admitted to our hospital...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27790480/bilateral-vocal-cord-palsy-with-arnold-chiari-malformation-a-rare-case-series
#5
Nikhil Arora, Ruchika Juneja, Ravi Meher, Eishaan K Bhargava
Stridor in paediatric age group is not an uncommon presentation to the ENT emergency. The range of differential diagnosis is vast. The presentation may vary from noisy breathing to severe respiratory distress and apnea. Early and meticulous diagnosis is crucial for the management as the condition may be life threatening. We report a rare case series of 3 infants with Arnold Chiari Malformation who presented to the hospital with stridor and were diagnosed with bilateral vocal cord palsy. These 3 infants had similar underlying neurological condition with hydrocephalus and raised intracranial pressure...
September 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27785802/in-this-issue-november-2016-more-education-needed-on-health-hazards-of-chemotherapy-agents-%C3%A2-congenital-disseminated-neosporosis-in-a-pup-%C3%A2-obstructive-hydrocephalus-in-two-dogs-%C3%A2-iodine-packing-of-the-sinuses-for-aspergillosis-%C3%A2-buffalos-unlikely-to-be-a-large
#6
EDITORIAL
https://www.readbyqxmd.com/read/27767331/medical-conditions-associated-with-the-use-of-ct-in-children-and-young-adults-great-britain-1995-2008
#7
Neige M Journy, Kieran McHugh, Richard W Harbron, Mark S Pearce, Amy Berrington De Gonzalez
OBJECTIVE: To describe the medical conditions associated with the use of CT in children or young adults with no previous cancer diagnosis. METHODS: Radiologist reports for scans performed in 1995-2008 in non-cancer patients less than 22 years of age were collected from the radiology information system in 44 hospitals of Great Britain. By semantic search, an automated procedure identified 185 medical conditions within the radiologist reports. Manual validation of a subsample by a paediatric radiologist showed a satisfactory performance of the automatic coding procedure...
December 2016: British Journal of Radiology
https://www.readbyqxmd.com/read/27766469/long-term-mortality-rates-in-pediatric-hydrocephalus-a-retrospective-single-center-study
#8
Matthias Gmeiner, Helga Wagner, Christoph Zacherl, Petra Polanski, Christian Auer, Willem J R van Ouwerkerk, Kurt Holl
PURPOSE: Very long-term follow-up and outcome are rare for pediatric patients with hydrocephalus and shunt operations. The aim of this study was to determine the long-term mortality rates in these patients. METHODS: Pediatric patients with first shunt operation between 1982 and 1992 were included. For each patient, time and cause of death were determined. Further, patients with first operation from 1982 to 1987 were compared to those first operated from 1988 to 1992...
October 20, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27746571/anesthetic-management-of-a-child-with-complete-atrioventricular-septal-defect-and-single-ventricle-posted-for-noncardiac-surgery
#9
Aabid Hussain Mir, Zulfiqar Ali, Bashir Ahmad Dar, Imtiaz A Naqash, Samreena Bashir
Congenital heart defects are associated with various physiological disturbances. They pose anesthetic challenges for both cardiac and noncardiac surgeries. Atrioventricular septal defects are due to a developmental failure in the separation of atria and the ventricles into separate chambers and failure in the separation of mitral and tricuspid valves. We present a case of a child (1½ years), weighing 10 kg, diagnosed as congenital hydrocephalus who was planned for ventriculoperitoneal shunt. Child was having an oxygen saturation of 76% on room air...
September 2016: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/27703483/the-association-of-pseudohypoparathyroidism-type-ia-with-chiari-malformation-type-i-a-coincidence-or-a-common-link
#10
Paria Kashani, Madan Roy, Linda Gillis, Olufemi Ajani, M Constantine Samaan
A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). He had a normal brain MRI at three months, but developmental delay prompted a repeat MRI that revealed Chiari Malformation Type I (CM-I) with hydrocephalus requiring neurosurgical intervention...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27695855/congenital-zika-virus-infection-beyond-neonatal-microcephaly
#11
Adriana Suely de Oliveira Melo, Renato Santana Aguiar, Melania Maria Ramos Amorim, Monica B Arruda, Fabiana de Oliveira Melo, Suelem Taís Clementino Ribeiro, Alba Gean Medeiros Batista, Thales Ferreira, Mayra Pereira Dos Santos, Virgínia Vilar Sampaio, Sarah Rogéria Martins Moura, Luciana Portela Rabello, Clarissa Emanuelle Gonzaga, Gustavo Malinger, Renato Ximenes, Patricia Soares de Oliveira-Szejnfeld, Fernanda Tovar-Moll, Leila Chimelli, Paola Paz Silveira, Rodrigo Delvechio, Luiza Higa, Loraine Campanati, Rita M R Nogueira, Ana Maria Bispo Filippis, Jacob Szejnfeld, Carolina Moreira Voloch, Orlando C Ferreira, Rodrigo M Brindeiro, Amilcar Tanuri
Importance: Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. Objective: To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil...
October 3, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27605545/feasibility-and-value-of-preoperative-embolization-of-a-congenital-choroid-plexus-tumour-in-the-premature-infant-an-illustrative-case-report-with-technical-details
#12
Tariq Aljared, Jean-Pierre Farmer, Donatella Tampieri
We present a case of a preterm boy (born at 35 weeks of pregnancy) who was delivered urgently by a caesarean section due to placental abruption. The baby was found to have a tense fontanelle leading to imaging that showed a 5.5 cm right intraventricular mass centred in the atrium, hydrocephalus and extensive surrounding vasogenic oedema. The mass was avidly enhancing with a few large associated vessels suggesting high vascularity. The condition of the baby was acutely deteriorating. He had multiple seizures followed by persistent low level of consciousness in the third day of life...
September 7, 2016: Interventional Neuroradiology
https://www.readbyqxmd.com/read/27582535/prenatal-diagnosis-of-persistent-hyperplastic-primary-vitreous-report-of-2-cases-and-review-of-the-literature
#13
Aytul Corbacioglu Esmer, Tugba Sarac Sivrikoz, Elif Yilmaz Gulec, Salim Sezer, Ibrahim Kalelioglu, Recep Has, Atil Yuksel
Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case...
October 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27549417/epidemiology-of-congenital-anomalies-of-the-central-nervous-system-in-children-in-enugu-nigeria-a-retrospective-study
#14
Christopher Bismarck Eke, Enoch Ogbonnaya Uche, Josephat Maduabuchi Chinawa, Ikechukwu Emmanuel Obi, Herbert Anayo Obu, Roland Chidi Ibekwe
BACKGROUND: Congenital anomalies, including those of the central nervous system (CNS), are among the leading causes of morbidity, mortality, and fetal loss. OBJECTIVE: To determine the prevalence and associated factors of CNS congenital anomalies in children. METHODS: A cross-sectional retrospective study of children managed with CNS anomalies was undertaken. Relevant clinical data of identified cases based on standard case definitions were retrieved from their case record files...
July 2016: Annals of African Medicine
https://www.readbyqxmd.com/read/27506562/acute-pancreatitis-and-pneumonia-due-to-mycoplasma-pneumoniae-a-case-report
#15
Michael Benzaquen, Dan Lebowitz, Pauline Belenotti, Jean-Marc Durand, Jacques Serratrice
BACKGROUND: Mycoplasma pneumoniae is a bacterium responsible for 15 to 40 % of acute community-acquired pneumonia in children and 20 % of adult cases. Several extrapulmonary manifestations have been reported. We report a rare case of an adult patient suffering from pneumonia associated with an acute pancreatitis in the setting of Mycoplasma pneumoniae infection. CASE PRESENTATION: A 28-year-old Caucasian woman was referred for anorexia lasting for 1 week. Her past medical history was notable for congenital hydrocephalus with consecutive ventriculo-peritoneal shunt, epilepsia and paraparesis...
2016: BMC Research Notes
https://www.readbyqxmd.com/read/27504975/evaluation-of-the-western-blotting-method-for-the-diagnosis-of-congenital-toxoplasmosis
#16
Jaqueline Dario Capobiango, Thaís Cabral Monica, Fernanda Pinto Ferreira, Regina Mitsuka-Breganó, Italmar Teodorico Navarro, João Luis Garcia, Edna Maria Vissoci Reiche
OBJECTIVE: To evaluate the Western blotting method for the detection of IgG anti-Toxoplasma gondii (T. gondii) (IgG-WB) in the serum of children with suspected congenital toxoplasmosis. METHODS: We accompanied 47 mothers with acquired toxoplasmosis in pregnancy and their children, between June of 2011 and June of 2014. The IgG-WB was done in house and the test was considered positive if the child had antibodies that recognized at least one band on IgG blots different from the mother's or with greater intensity than the corresponding maternal band, during the first three months of life...
August 6, 2016: Jornal de Pediatria
https://www.readbyqxmd.com/read/27500777/-cerebrospinal-fluid-shunt-malfunction-not-associated-with-ventricular-enlargement-a-case-report-and-literature-review
#17
D A Mirsadykov
Substantiation of the shunt failure diagnosis and subsequent consideration of indications for surgical elimination of the malfunction is a laborious and challenging process. Identification of a malfunction in doubtful cases requires, in addition to standard examinations, extra diagnostic procedures, which may delay making a decision for several weeks to several months. The article describes a case of mechanical CSF shunt malfunction (breakage and failure of a peritoneal catheter in a 7-year-old girl) with intracranial hypertension symptoms, but without typical enlargement of the brain ventricles...
2016: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/27490173/post-mortem-diagnostic-exome-sequencing-identifies-a-de-novo-tubb3-alteration-in-a-newborn-with-prenatally-diagnosed-hydrocephalus-and-suspected-walker-warburg-syndrome
#18
Zoe Powis, Adam C Chamberlin, Christina L Alamillo, Sophia Ceulemans, Lynne M Bird, Sha Tang
OBJECTIVE: Herein we report a case of a deceased newborn with prenatally detected hydrocephalus. Postnatal findings included abnormal brain imaging and electroencephalogram (EEG), optic nerve abnormalities, and elevated creatine kinase (CK). No underlying genetic etiology had been previously identified for the proband, despite testing with a congenital muscular dystrophy gene panel. METHODS: Diagnostic exome sequencing (DES) was performed on the proband-parents trio, and candidate alterations were confirmed using automated fluorescence dideoxy sequencing...
August 4, 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27490129/predictors-of-ventriculoperitoneal-shunt-failure-in-children-undergoing-initial-placement-or-revision
#19
Dani O Gonzalez, Justin B Mahida, Lindsey Asti, Erica J Ambeba, Brian Kenney, Lance Governale, Katherine J Deans, Peter C Minneci
BACKGROUND: Ventriculoperitoneal (VP) shunt placement, the mainstay of treatment for hydrocephalus, can place a substantial burden on patients and health care systems because of high complication and revision rates. We aimed to identify factors associated with 30-day VP shunt failure in children undergoing either initial placement or revision. METHODS: VP shunt placements performed on patients in the 2012-2013 American College of Surgeons National Surgical Quality Improvement Program (NSQIP) Pediatric were identified...
2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27487344/glioblastoma-multiforme-with-hypodipsic-hypernatremia-in-a-seven-month-old-golden-retriever
#20
Stephanie Engel, Karen Marie Hilling, Travis Kuder Meuten, Chad Brendan Frank, Angela J Marolf
Primary hypodipsic hypernatremia is a rarely reported disease in dogs. Reported underlying causes associated with this disease in dogs include congenital malformations, encephalitis, intracranial neoplasia, and pressure atrophy of the hypothalamus secondary to hydrocephalus. The dog in this report had an infiltrative neoplastic disorder, likely causing damage to the hypothalamic osmoreceptors responsible for the thirst generation. The neoplastic process was identified histopathologically as glioblastoma multiforme, an unusual tumor to occur in a dog this young...
September 2016: Journal of the American Animal Hospital Association
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