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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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...
February 6, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29390414/prenatal-diagnosis-of-joubert-syndrome-a-case-report-and-literature-review
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/29177011/x-derived-marker-chromosome-in-patient-with-mosaic-turner-syndrome-and-dandy-walker-syndrome-a-case-report
#16
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
#17
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
#18
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 were detected in 31.2% (24/77) of all cases by CMA and in 18...
January 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29155115/transtentorial-distortion-syndrome-consistent-complication-following-lateral-and-fourth-ventricular-shunting-in-adults
#19
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 cerebrospinal fluid diversion via supratentorial and infratentorial 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 infratentorial shunt insertion. METHODS: This was a retrospective single-center case series...
February 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29137034/uniparental-disomy-and-prenatal-phenotype-two-case-reports-and-review
#20
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)
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