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https://www.readbyqxmd.com/read/29442326/zic1-function-in-normal-cerebellar-development-and-human-developmental-pathology
#1
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
#2
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%)...
February 12, 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
#3
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
#4
E A Faqeih, M Almannai, M M Saleh, A H AlWadie, 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 two pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from four 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...
February 6, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29390414/prenatal-diagnosis-of-joubert-syndrome-a-case-report-and-literature-review
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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...
December 4, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29177011/x-derived-marker-chromosome-in-patient-with-mosaic-turner-syndrome-and-dandy-walker-syndrome-a-case-report
#11
Alena S Telepova, Svetlana A Romanenko, Natalya A Lemskaya, Yulia V Maksimova, Asia R Shorina, Dmitry V Yudkin
Background: Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Case presentation: Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the centromeric region of chromosome X...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29171184/structural-malformations-of-the-brain-eye-and-pituitary-gland-in-phace-syndrome
#12
Jack E Steiner, Garrett N McCoy, Christopher P Hess, William B Dobyns, Denise W Metry, Beth A Drolet, Mohit Maheshwari, Dawn H Siegel
PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41-52% of PHACE patients and can be associated with focal neurologic deficits, developmental delays, and/or intellectual disability. To better characterize the spectrum of structural brain and other intracranial anomalies in PHACE syndrome, MRI scans of the head/neck were retrospectively reviewed in 55 patients from the PHACE Syndrome International Clinical Registry and Genetic Repository...
January 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29171036/prenatal-diagnosis-of-posterior-fossa-anomalies-additional-value-of-chromosomal-microarray-analysis-in-fetuses-with-cerebellar-hypoplasia
#13
Zhiyong Zou, Linhuan Huang, Shaobin Lin, Zhiming He, Hui Zhu, Yi Zhang, Qun Fang, Yanmin Luo
OBJECTIVE: To elucidate the relationship between copy number variations (CNVs) detected by high-resolution chromosomal microarray analysis (CMA) and the type of prenatal posterior fossa anomalies (PFAs), especially cerebellar hypoplasia (CH). METHODS: This study involved 77 pregnancies with PFAs who underwent CMA. RESULTS: Chromosomal aberrations including pathogenic CNVs and variants of unknown significance (VOUS) were detected in 31.2% (24/77) of all cases by CMA and in 18...
November 23, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29155115/transtentorial-distortion-syndrome-a-consistent-complication-following-lateral-and-fourth-ventricular-shunting-in-adults
#14
Claudia L Craven, Irene Baudracco, Simon D Thompson, Lewis Thorne, Laurence D Watkins, Ahmed K Toma
BACKGROUND: Complex hydrocephalus affecting lateral and fourth ventricles separately is occasionally managed with CSF diversion via supra- and infra-tentorial ventricular catheters. The optimal configuration to reduce complications is currently unknown in adults. We describe a consistently similar clinical presentation of patients with complex hydrocephalus and a fourth ventricle separately drained by infra-tentorial shunt insertion. METHODS: A retrospective single centre case series...
November 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29137034/uniparental-disomy-and-prenatal-phenotype-two-case-reports-and-review
#15
Xiaofei Li, Yan Liu, Song Yue, Li Wang, Tiejuan Zhang, Cuixia Guo, Wenjie Hu, Karl-Oliver Kagan, Qingqing Wu
RATIONALE: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS: We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES: The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy-Walker malformation and congenital heart defects...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29122895/migration-of-ventriculoperitoneal-shunt-to-urethral-and-rectal-orifices
#16
Banan Osman, Stella Roushias, Rachel Hargest, Krishna Narahari
Ventriculoperitoneal (VP) shunt surgery remains the most widely used neurosurgical procedure for the management of hydrocephalus. However, shunt complications are common and may require multiple surgical procedures during a patient's lifetime. We report the case of a 29-year-old patient with a background of Dandy-Walker malformation, occipital encephalocele, recurrent hydrocephalus, spina bifida and epilepsy presented with VP shunt migration into urinary and gastrointestinal tracts. In absence of sepsis or peritonism from either bowel or bladder perforation, local control of stent extrusion was successful for several years, although surgery was eventually undertaken...
November 8, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29037562/dandy-walker-syndrome-with-duplex-kidney-abnormalities-in-trisomy-18-a-rare-case-report
#17
Tun-Jun Wang, Yi-Ying Li, Wan-Ju Wu, Chi-Kang Lin, Chun-Kai Wang, Chen-Yu Wang, Kwei-Shuai Hwang, Her-Young Su
OBJECTIVE: Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, with an incidence of about one in 5000 live births. The incidence of trisomy 18 associated with DWM is rare and long-term survival rate is very low. CASE REPORT: A case involving a 39-year-old pregnant female with a case of trisomy 18 associated with DWM...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29033643/dandy-walker-malformation-presenting-with-affective-symptoms
#18
Mert Batmaz, Zeynep Ezgi Balçik, Ürün Özer, Burcu Hamurişçi Yalçin, Şakir Özen
Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walker malformation in the literature. Herein, a Dandy-Walker malformation case presenting affective symptoms is reported, and psychiatric symptoms which might be seen in this rare malformation are discussed along with diagnosis, treatment, and follow-up processes...
September 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28981939/-genetic-diagnosis-and-follow-up-of-a-fetus-with-emanuel-syndrome
#19
Yanhui Zhao, Hong Pang, Ming Gao, Xiaojing Feng, Yunping Guan, Hua Zhao, Dan Tong, Jun Hua, Xia Cao, Shaosong He, Jesse Li-Ling
OBJECTIVE: To carry out genetic analysis for a fetus with Dandy-Walker malformation and provide prenatal diagnosis for its parents during the subsequent pregnancy. METHODS: Routine G-banding was carried out to analyze the karyotype of the fetus and its parents, and next-generation sequencing (NGS) and fluorescence in situ hybridization (FISH) were used to verify the result. RESULTS: The father showed a normal karyotype, while the mother was found to carry a balanced t(11; 22) (q23; q11) translocation...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981929/-genetic-analysis-of-two-cases-with-dandy-walker-deformed-fetus
#20
Juan Yao, Rong Fang, Xueping Shen, Guosong Shen, Su Zhang
OBJECTIVE: To explore the genetic etiology of two fetuses with Dandy-Walker malformation using single nucleotide polymorphism microarray (SNP-array). METHODS: The fetuses and their parents were subjected to G banding karyotype analysis. The fetuses were also subjected to SNP-array analysis. RESULTS: The parents of both fetuses showed a normal karyotype. One fetus has a 46,X,?i(X)(q10), while for another conventional cell culture has failed...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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