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congenital hydrocephalus

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https://www.readbyqxmd.com/read/28213196/rate-and-risk-factors-of-shunt-revision-in-pediatric-hydrocephalus-patients-population-based-study
#1
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). However, it carries a risk for complications which may require further revisions. We studied the surgical outcome of pediatric hydrocephalus patients in a population-based setting. METHODS: A total of 80 patients of age ≤16 years old who required VPS due to HC were included, and their medical charts and imaging findings were studied. RESULTS: The mean age at the time of initial shunt placement was 3...
February 14, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28212403/cerebrospinal-fluid-biomarkers-of-infantile-congenital-hydrocephalus
#2
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
https://www.readbyqxmd.com/read/28184323/congenital-tuberculosis-a-newborn-case-report-with-rare-manifestation
#3
Hadi Khorsand Zak, Shahin Mafinezhad, Ali Haghbin
INTRODUCTION: Congenital tuberculosis is an infrequently encountered condition and only 300 cases were reported in the literature till 1989. There are no specific signs and symptoms pathognomonic for congenital TB, and the devastating consequences in the absence of early therapy signify the importance of early diagnosis and treatment during the neonatal period. CASE PRESENTATION: In this paper we report on a case of congenital TB in a newborn who was admitted to our clinic with seizures and intraventricular hemorrhage (IVH) due to TB meningitis...
October 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28179172/quality-of-life-in-individuals-surgically-treated-for-congenital-hydrocephalus-during-infancy-an-institutionary-experience
#4
Saad A Khan, Muhammad F Khan, Saqib K Bakhshi, Omar Irfan, Hamza A Khan, Syed A Abbas, Safia Awan, Muhammad E Bari
No abstract text is available yet for this article.
February 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28177882/time-trends-in-the-prevalence-and-epidemiological-characteristics-of-neural-tube-defects-in-liaoning-province-china-2006-2015-a-population-based-study
#5
Tie-Ning Zhang, Ting-Ting Gong, Yan-Ling Chen, Qi-Jun Wu, Yuan Zhang, Cheng-Zhi Jiang, Jing Li, Li-Li Li, Chen Zhou, Yan-Hong Huang
To evaluate the time trends in the prevalence of neural tube defects and all their subtypes as well as to identify the epidemiological characteristics of these malformations documented in the Liaoning Province of northeast China from 2006 to 2015. This was a population-based observational study using data from 3,248,954 live births as well as from 6217 cases of neural tube defects, 1,600 cases of anencephaly, 2,029 cases of spina bifida, 404 cases of encephalocele, and 3,008 cases of congenital hydrocephalus from 14 cities in Liaoning Province from 2006 to 2015...
February 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28168619/pure-endoscopic-management-of-epileptogenic-hypothalamic-hamartomas
#6
S Chibbaro, H Cebula, J Scholly, J Todeschi, I Ollivier, A Timofeev, M Ganau, P Di Emidio, M P Valenti, A M Staack, T Bast, B J Steinhoff, E Hirsch, P Kehrli, F Proust
Hypothalamic hamartomas (HH) are rare congenital malformations located in the region of the tuber cinereum and third ventricle. Their usual clinical presentation is characterized by gelastic/dacrystic seizures which often become pharmaco-resistant and progress to secondary focal/generalized intractable epilepsy causing mostly in children cognitive and behavioral problems (particularly in cases of progressive epileptic encephalopathy) and precocious puberty. Whereas gelastic seizures can be surgically controlled either by resection of the lesion or disconnection (tissue-destructive) procedures, aimed at functionally prevent the spreading of the epileptic burst; generalized seizures tend to respond better to HH excision rather than isolated neocortical resections, which generally fail to control them...
February 7, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28114843/the-impact-of-fetal-middle-cerebral-artery-doppler-on-the-outcome-of-congenital-hydrocephalus
#7
Nail A Obeidat, Bahauddin I Sallout, Badi S Albaqawi, Wajeih Y Al AlAali
OBJECTIVES: 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, labour 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)...
January 23, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28050387/alobar-holoprosencephaly-associated-with-meningomyelocoele-and-omphalocoele-an-unusual-coexistence
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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