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Dandy Walker

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https://www.readbyqxmd.com/read/29914842/ablative-stereotactic-neurosurgery-for-irreducible-neuroaggressive-disorder-in-pediatric-patients
#1
Manuel Hernández Salazar, Antonio Zarate Méndez, Oscar Meneses Luna, Lucía Ledesma Torres, Ramón Paniagua Sierra, Mary Carmen Sánchez Moreno, Juan Leonardo Serrato Avila
INTRODUCTION AND OBJECTIVES: The irreducible neuroaggressive disorder (IND) is a well-described entity known to be associated with impulsive and aggressive behavior. While various studies have assessed available pharmacological and non-pharmacological treatment regimens, patients with IND continue to pose a major threat to themselves and society. While targeted stereotactic therapy for IND has gained traction in recent years, there is a paucity of information describing comparative effectiveness of different validated anatomic regions...
June 15, 2018: Neurocirugía
https://www.readbyqxmd.com/read/29890274/intradiploic-cerebrospinal-fluid-cyst-following-occipital-encephalocele-surgery-in-a-patient-with-dandy-walker-malformation
#2
Timothy L Miao, Holger Joswig, Sachin K Pandey, Andrew G Parrent
Intradiploic cerebrospinal fluid cysts are rare entities which have been reported to occur following trauma and surgery. We present a case of an incidental intradipoloic cerebrospinal fluid cyst in communication with a Dandy-Walker malformation likely related to a remote history of childhood surgery for occipital encephalocele.
June 8, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29846820/whole-exome-sequencing-in-dandy-walker-variant-with-intellectual-disability-reveals-an-activating-cip2a-mutation-as-novel-genetic-cause
#3
Chin-An Yang, I-Ching Chou, Der-Yang Cho, Chien-Yu Lin, Hsi-Yuan Huang, Yu-Chen Ho, Ting-Yuan Liu, Ying-Hsuan Li, Jan-Gowth Chang
Dandy-Walker malformation (DWM) has been reported to have heterogeneous causes, including mutations in genes of fibroblast growth factors and in genes in the sonic hedgehog (Shh) signaling pathway. Here, we identified an activating cancerous inhibitor of protein phosphatase 2A (CIP2A) p.D269V mutation, located at the predicted protein-protein interaction groove, as a novel genetic cause of Dandy-Walker variant (DWV). CIP2A has been reported as an oncoprotein promoting tumor survival via inhibition of protein phosphatase 2A (PP2A)...
May 30, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29797040/-dandy-walker-malformation
#4
REVIEW
W Reith, A Haussmann
The Dandy-Walker malformation is the most frequent cerebral malformation. It is defined by hypoplasia and upward rotation of the vermis cerebelli, a cystic enlargement of the fourth ventricle and in total an enlarged posterior fossa with cranially shifted position of the lateral sinus, tentorium and torcula herophili. This malformation was first described by Dandy and Blackfan in 1914 then supplemented again by Taggart and Walker in 1942. The current description as Dandy-Walker malformation was introduced in 1954 by Bender...
May 24, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29682014/neurosurgical-interventions-for-occipital-encephalocele
#5
Lal Rehman, Ghulam Farooq, Irum Bukhari
Aims and Objectives: The aim of this study is to find the outcome of repair and resection of the occipital encephalocele. Study Design: Case series. Materials and Methods: The clinical data of fifty consecutive occipital encephalocele patients were retrieved from medical records including operative notes, postoperative follow-up visits, and postsurgical complications were noted for analysis from November 2009 to November 2013 at the Department of Neurosurgery, Jinnah Postgraduate Medical Centre, Karachi, Pakistan...
April 2018: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29610688/prenatal-identification-and-molecular-characterization-of-two-simultaneous-de-novo-interstitial-duplications-of-chromosomal-regions-7p22-1p21-1-and-15q24-1
#6
Sabrina C Burn, Kali Swift, Maria Palmquist
The occurrence of simultaneous de novo chromosomal aberrations is extremely rare. Here, we describe two, previously unreported, simultaneous de novo interstitial duplications of chromosomes 7p and 15q. Amniocentesis was completed for a healthy gravida 4 para 3 woman due to her advanced maternal age and concurrent ultrasound findings of partial vermian agenesis, choroid-plexus cysts, and hypoplastic nasal bone. Cytogenetic analysis of cultured amniocytes by conventional chromosome analysis, comparative genomic hybridization, and fluorescence in situ hybridization revealed two interstitial duplications of the chromosomal regions 7p22...
2018: Case Reports in Genetics
https://www.readbyqxmd.com/read/29560948/-the-case-of-completed-pregnancy-of-the-patient-with-dandy-walker-malformation
#7
E V Beliaeva, L V Lapshina, E V Shaposhnikova, A A Molgachev
Dandy-Walker malformation is a rare disease of the central nervous system pathology (congenital malformations of the fossa cranii posterior). The key features of this syndrome are an enlargement of the fourth ventricle; complete absence of the cerebellar vermis, the posterior midline area of cerebellar cortex responsible for coordination of the axial musculature; and cyst formation near the internal base of the skull. Pregnant patients with Dandy-Walker malformation are at high risk and are managed by multidisciplinary teams including neurologists and obstetricians...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29532167/dandy-walker-malformation-and-syringomyelia-a-rare-association
#8
Valentina Baro, Renzo Manara, Luca Denaro, Domenico d'Avella
PURPOSE: Dandy-Walker malformation is a rare condition due to imperforation of the Blake's pouch during intrauterine brain development, usually leading to early severe hydrocephalus. The association with holocord syringomyelia is rare, and from the Gardner's first report in 1957, only 23 cases have been described, mostly from autopsy series and pre-MRI period. Besides a worsening of clinical picture, its occurrence generates some concern about the best surgical treatment that varies widely among the literature reports...
March 12, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29530698/neurocutaneous-melanosis-in-an-adult-patient-with-intracranial-primary-malignant-melanoma-case-report-and-review-of-the-literature
#9
Mian Ma, Zhi-Liang Ding, Zhi-Qi Cheng, Gang Wu, Xiao-Yu Tang, Peng Deng, Jian-Dong Wu
OBJECTIVE: To explore the clinical characteristics of neurocutaneous melanosis (NCM) in adult patients in order to help improve diagnosis and treatment of this disease. METHODS: We present a rare case of an adult patient suffering from neurocutaneous melanosis with malignant melanoma as well as a review Chinese and English literature, and analyze their clinical features. RESULTS: There were thirty adult NCM patients, aged 19 to 65 years old, average 27...
March 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29489735/cancer-management-in-kabuki-syndrome-the-first-case-of-wilms-tumor-and-a-literature-review
#10
Hideto Teranishi, Yuhki Koga, Kentaro Nakashima, Eiji Morihana, Kanako Ishii, Yasunari Sakai, Tomoaki Taguchi, Yoshinao Oda, Noriko Miyake, Naomichi Matsumoto, Shouichi Ohga
A 3-year-old Japanese girl treated for hypoplastic left heart syndrome and Dandy-Walker syndrome was diagnosed with Kabuki syndrome (KS) with a mutation of KMT2D; c.13285C>T:p.Q4429*. Concurrently, macrohematuria portended the diagnosis of Wilms tumor. Postoperative chemotherapy has achieved complete remission despite a prolonged and reduced regimen due to liver dysfunction and convulsions. Cancer predisposition has been suggested for KS due to oncogenic mutations in KMT2D or KDM6A. The first case of nephroblastoma exemplified the treatability of malignancies in KS patients, as shown in the 9 cases reviewed...
February 27, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29442326/zic1-function-in-normal-cerebellar-development-and-human-developmental-pathology
#11
Jun Aruga, Kathleen J Millen
Zic genes are strongly expressed in the cerebellum. This feature leads to their initial identification and their name "zic," as the abbreviation of "zinc finger protein of the cerebellum." Zic gene function in cerebellar development has been investigated mainly in mice. However, association of heterozygous loss of ZIC1 and ZIC4 with Dandy-Walker malformation, a structural birth defect of the human cerebellum, highlights the clinical relevance of these studies. Two proposed mechanisms for Zic-mediated cerebellar developmental control have been documented: regulation of neuronal progenitor proliferation-differentiation and the patterning of the cerebellar primordium...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29435827/hydrocephalus-in-children-under-the-age-of-five-from-diagnosis-to-short-medium-long-term-progression-a-retrospective-review-of-142-children
#12
Océane Perdaens, Guus Koerts, Marie-Cécile Nassogne
The aim of this study is to evaluate the clinical history and prognosis of children with early-onset hydrocephalus. The retrospective study's inclusion criteria were hydrocephalus diagnosis before the age of 5 years, independent of aetiology, and birth details, January 1, 2000 to December 31, 2014. Overall, 142 children were entered into the study, divided into 11 aetiological groups: premature-birth post-intraventricular haemorrhage (16%), brain tumours (16%), spina bifida (15%), aqueductal stenosis (8%), post-meningitis (8%), post-haemorrhage (8%), Dandy-Walker malformation (6%), unknown origin (6%), arachnoid cyst (5%), miscellaneous obstruction (4%), and various causes (8%)...
March 2018: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29423002/ndufa4-enhances-neuron-growth-by-triggering-growth-factors-and-inhibiting-neuron-apoptosis-through-bcl-2-and-cytochrome-c-mediated-signaling-pathway
#13
Fang Fu, Yan Li, Ru Li, Ting-Ying Lei, Dan Wang, Xin Yang, Jin Han, Min Pan, Li Zhen, Yan-Mei Ou, Jian Li, Fao-Tao Li, Xiang-Yi Jing, Dong-Zhi Li, Can Liao
Dandy-Walker malformation (DWM) is the most prevalent congenital malformation in cerebellum, however, pathological mechanism of DWM has not been fully clarified. This study aims to investigate effects of NDUFA4 on growth of neurons. LV5-NDUFA4 and LV3-NDUFA4-RNAi lentivirus were constructed and transfected to neurons. Ciclosporin A, together with the two lentivirus were applied to neurons to observe neuron growth, apoptosis, and related protein expression. MTT assay was used to observe neuron growth. Apoptosis was detected by using flow cytometry assay...
2018: American Journal of Translational Research
https://www.readbyqxmd.com/read/29406573/phenotypic-characterization-of-kctd3-related-developmental-epileptic-encephalopathy
#14
E A Faqeih, M Almannai, M M Saleh, A H AlWadei, M M Samman, F S Alkuraya
The association between KCTD3 gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with 2 pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from 4 consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progressive peripheral hypertonia, and variable dysmorphic facial features. Posterior fossa abnormalities (ranging from Dandy-Walker malformation to isolated hypoplasia of the cerebellar vermis) were consistently observed in addition to other variable neuroradiological abnormalities such as hydrocephalus and abnormal brain myelination...
May 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29390414/prenatal-diagnosis-of-joubert-syndrome-a-case-report-and-literature-review
#15
Lingling Zhu, Limei Xie
INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29354751/scoliosis-in-dandy-walker-syndrome-a-case-report-and-review-of-literature
#16
Venugopal K Menon, Tamer M M Sorur, Khalifa A Al Ghafri, Marwan M H E Shahin
This submission presents a case of scoliosis in a patient with established Dandy-Walker anomaly of the brain. A retrospective review of the patient's case notes was undertaken and the limited literature on this subject reviewed. The 13-year-old girl presented with a stiff right thoracic scoliosis typical of adolescent idiopathic scoliosis. The scoliotic segment also presented with significant lordosis. She had facial and truncal dysmorphism characteristic of Dandy-Walker complex and her brain images confirmed the diagnosis...
December 2017: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/29319270/dandy-walker-syndrome-a-rare-presentation-in-adult
#17
Shruti Agrawal, Mahesh Dave, Hemant Mahur, Manish Aswani, Ravi Goyal, Nitesh Pansari, Pradeep Kaswan
No abstract text is available yet for this article.
October 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29250689/anatomic-variants-in-dandy-walker-complex
#18
Maria Claudia Jurcă, Kinga Kozma, CodruŢa Diana Petcheşi, Marius Bembea, Ovidiu Laurean Pop, Gabriela MuŢiu, Mihaela Cristiana Coroi, Alexandru Daniel Jurcă, Luciana Dobjanschi
Dandy-Walker complex (DWC) is a malformative association of the central nervous system. DWC includes four different types: Dandy-Walker malformation (vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa); Dandy-Walker variant (vermis hypoplasia, cystic dilatation of the fourth ventricle, normal posterior fossa); mega cysterna magna (large posterior fossa, normal vermis and fourth ventricle) and posterior fossa arachnoid cyst. We present and discuss four cases with different morphological and clinical forms of the Dandy-Walker complex...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29209547/an-acquired-form-of-dandy-walker-malformation-with-enveloping-hemosiderin-deposits
#19
Tadashi Shiohama, Ryo Ando, Katsunori Fujii, Hiroki Mukai, Yuki Naruke, Katsuo Sugita, Eiji Kato, Naoki Shimojo
Dandy-Walker malformation (DWM) is a posterior fossa anomaly characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. The cyst of DWM rarely extends posteriorly to almost completely fill the entire posterior fossa, which mimics primary cerebellar agenesis, a cerebellar porencephalic cyst, and an arachnoid cyst due to the lack of clarity of the thin cystic wall. A 10-month-old female born at 23 weeks' gestation with cerebellar hemorrhage in the neonatal period was admitted to our hospital with dysphagia and side-to-side head bobbing...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29204917/the-outcome-of-cochlear-implantation-among-children-with-genetic-syndromes
#20
Farid Alzhrani, Rayan Alhussini, Rawan Hudeib, Tuqa Alkaff, Tahera Islam, Abdulrahman Alsanosi
OBJECTIVE: To assess the outcome and efficacy of cochlear implantation in children with genetic syndromes. METHOD: Study design: case-control study. SETTING: A cochlear implantation tertiary referral center. PATIENTS: All pediatric cochlear implantation recipients with Waardenburg syndrome, Usher syndrome, Dandy-Walker syndrome, or albinism. A control group was appropriately matched to the syndromic group with regard to age at implantation and duration of device use...
February 2018: European Archives of Oto-rhino-laryngology
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