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congenital hydrocephalus

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https://www.readbyqxmd.com/read/28050387/alobar-holoprosencephaly-associated-with-meningomyelocoele-and-omphalocoele-an-unusual-coexistence
#1
Tejaswini Priyadarshan Waghmare, Pragati Aditya Sathe, Naina Atul Goel, Bhuvaneshwari Mahendra Kandalkar
Holoprosencephaly is a rare congenital disorder which results from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees. Depending on the degree of involvement, it is classified into 4 types: Alobar, Semilobar, Lobar and Middle interhemispheric fusion variant. A male child was born to 28-year-old female at 34 weeks of gestation. The mother on antenatal follow-up was detected to have a fetus with multiple congenital anomalies on Ultrasonography (USG) done at 34weeks of gestation...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28043315/right-sided-congenital-diaphragmatic-hernia-and-myelomeningocele-a-rare-association
#2
Syed Rehan Ali, Shakeel Ahmed
Congenital diaphragmatic hernia (CDH) is a rare birth defect with a prevalence of < 0.5 per 1,000 live births. Majority of these defects are left-sided as most studies suggest that frequency of right-sided CDH was 10% of the total. The association of CDH with myelomeningocele (MMC) is extremely rare; as in Sweed's study of 116 consecutive cases of CDH, the incidence of associated MMC with CDH was stated as 4.3%. There has been one previous case report of leftsided CDH, MMC and hydrocephalus prenatally diagnosed; but to the best of authors' knowledge, this is the first reported case of the above constellation with a right-sided CDH diagnosed prenatally...
December 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28024134/-acute-mastoiditis-with-retroauricular-abscess-a-report-of-two-cases
#3
Andrzej Misiak
Otogenic complications may occur as a result of both acute and chronic otitis media. The purpose of the diagnostic process and treatment of patients with otogenic complications is to identify and eliminate focal points of the infection. Due to general application of antibiotics, these complications are rarely observed. Retroauricular abscess may be the first symptom associated with the development of acute mastoiditis in patients with communication disturbances. Intravenous antibiotics and surgery have been successfully used for treatment in the two described cases...
December 22, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28018469/type-i-chiari-malformation-presenting-orthostatic-syncope-who-treated-with-decompressive-surgery
#4
Hyun-Seung Shin, Jeong A Kim, Dong-Seok Kim, Joon Soo Lee
Chiari malformations are a congenital anomaly of the hindbrain. The most common, Chiari malformation type I (CM-I), is characterized by herniation of the cerebellar tonsils extending at least 3 mm below the plane of the foramen magnum. Consequently, CM-I is associated with hydrocephalus and symptoms involving compression of the cervicomedullary junction by ectopic tonsils. Several studies have reported the clinical symptoms associated with CM-I, including suboccipital headache, weakness in the upper extremities, facial numbness, loss of temperature sensation, ataxia, diplopia, dysarthria, dysphagia, vomiting, vertigo, nystagmus, and tinnitus...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27992982/-prevalence-of-birth-defects-in-risaralda-2010-2013
#5
Gloria Liliana Porras-Hurtado, Olga Mercedes León-Castañeda, Jaime Molano-Hurtado, Sandra Lorena Quiceno, Harry Pachajoa, Juan José Montoya
INTRODUCTION: The data regarding birth defects at local levels in developing countries like Colombia are scarce. OBJECTIVE: To describe the profile of congenital abnormalities in the province of Risaralda, Colombia. MATERIALS AND METHODS: We included the information on infants with structural and functional abnormalities at birth between June, 2010, and December, 2013, from records of the Instituto Nacional de Salud, and compared it with those of children born in the same period in a local clinic participating in the Collaborative Study of Congenital Malformations...
December 1, 2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27989409/the-burden-of-ionizing-radiation-studies-in-children-with-ventricular-shunts
#6
Maria C Antonucci, Noel S Zuckerbraun, Elizabeth C Tyler-Kabara, Andre D Furtado, Meghan E Murphy, Jennifer R Marin
OBJECTIVES: To quantify the number of shunt-related imaging studies that patients with ventricular shunts undergo and to calculate the proportion of computed tomography (CT) scans associated with a surgical intervention. STUDY DESIGN: Retrospective longitudinal cohort analysis of patients up to age 22 years with a shunt placed January 2002 through December 2003 at a pediatric hospital. Primary outcome was the number of head CT scans, shunt series radiograph, skull radiographs, nuclear medicine, and brain magnetic resonance imaging studies for 10 years following shunt placement...
December 15, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27974614/snx27-deletion-causes-hydrocephalus-by-impairing-ependymal-cell-differentiation-and-ciliogenesis
#7
Xin Wang, Ying Zhou, Jian Wang, I-Chu Tseng, Timothy Huang, Yingjun Zhao, Qiuyang Zheng, Yue Gao, Hong Luo, Xian Zhang, Guojun Bu, Wanjin Hong, Huaxi Xu
: Hydrocephalus is a brain disorder derived from CSF accumulation due to defects in CSF clearance. Although dysfunctional apical cilia in the ependymal cell layer are causal to the onset of hydrocephalus, mechanisms underlying proper ependymal cell differentiation are largely unclear. SNX27 is a trafficking component required for normal brain function and was shown previously to suppress γ-secretase-dependent amyloid precursor protein and Notch cleavage. However, it was unclear how SNX27-dependent γ-secretase inhibition could contribute to brain development and pathophysiology...
December 14, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27867342/the-family-of-crumbs-genes-and-human-disease
#8
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
#9
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
#10
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
#11
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
#12
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
#13
EDITORIAL
https://www.readbyqxmd.com/read/27767331/medical-conditions-associated-with-the-use-of-ct-in-children-and-young-adults-great-britain-1995-2008
#14
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
#15
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
#16
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
#17
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
#18
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...
December 1, 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
#19
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...
December 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
#20
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
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