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malformations cns

Didier Bessis, Michèle Bigorre, Nausicaa Malissen, Guillaume Captier, Christine Chiaverini, Claire Abasq, Sébastien Barbarot, Olivia Boccara, Emmanuelle Bourrat, Hassan El Fertit, Catherine Eschard, Thomas Hubiche, Jean-Philippe Lacour, Nicolas Leboucq, Emmanuel Mahé, Stéphanie Mallet, Myriam Marque, Ludovic Martin, Juliette Mazereeuw-Hautier, Nathalie Milla, Alice Phan, Patrice Plantin, Marie-Christine Picot, Eve Puzenat, Valérie Rigau, Pierre Vabres, Sylvie Fraitag, Franck Boralevi
BACKGROUND: Hair collar sign (HCS) and hair tuft of the scalp (HTS) are cutaneous signs of an underlying neuroectodermal defect, but most available data are based on case reports. OBJECTIVE: We sought to define the clinical spectrum of HCS and HTS, clarify the risk for underlying neurovascular anomalies, and provide imaging recommendations. METHODS: A 10-year multicenter retrospective and prospective analysis of clinical, radiologic, and histopathologic features of HCS and HTS in pediatric patients was performed...
October 11, 2016: Journal of the American Academy of Dermatology
Jacob Brenner, Ditza Rotenberg, Shami Jaakobi, Yehuda Stram, Merisol Guini-Rubinstein, Sofia Menasherov, Michel Bernstein, Yudith Yaakobovitch, Dan David, Samuel Perl
Viruses of the Simbu serogroup cause lesions to foetuses that are seen at birth and that correlate with the stage of pregnancy at which the dam first contracts the virus. The Simbu serogroup comprises arboviruses known to cause outbreaks of abnormal parturitions in domestic ruminants; these abnormalities include abortion, stillbirth, and congenitally deformed neonates. Simbu serogroup members include: Akabane virus (AKAV), Aino virus, Cache Valley virus, and Schmallenberg virus. Lately, dairy herds calf malformations have been observed in Europe, where there have been reports of clinical manifestations such as diarrhoea, fever, and reduced milk yield in adult lactating cows...
September 30, 2016: Veterinaria Italiana
Wen-Qing Huang, Cong-Xia Lu, Ya Zhang, Ke-Hui Yi, Liang-Liang Cai, Ming-Li Li, Han Wang, Qing Lin, Chi-Meng Tzeng
Background: Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma. Familial CCMs (FCCMs) is inherited in an autosomal dominant pattern with incomplete penetrance and variable symptoms. Methods: Mutations of three pathogenic genes, CCM1, CCM2, and CCM3, were investigated by direct DNA sequencing in a Chinese family with multiple CCM lesions...
2016: Frontiers in Aging Neuroscience
Yu-Chen Ji, Yan Li, Jing-Xia Hu, Hong-Bo Zhang, Peng-Xiang Yan, Huan-Cong Zuo
Hemangioblastomas (HBMs) are highly vascular tumors of the central nervous system. Sporadic HBMs are nearly always solitary, and solitary HBMs are similar to intracranial arteriovenous malformations due to their highly vascular characteristics. However, to the best of our knowledge, cases of HBM in the cerebellum mimicking an aneurysm have never been reported in the literature. The present study reports a case of an HBM on the right cerebellar hemisphere mimicking an aneurysm, which originated from the right posterior inferior cerebellar artery, as determined using magnetic resonance angiography and digital subtraction angiography...
October 2016: Oncology Letters
B K Kleinschmidt-DeMasters, Kevin O Lillehei
Radiation-induced vascular "malformations", designated cavernous hemangiomas/cavernomas ("RICHs"), are seldom biopsied and are usually diagnosed based on neuroimaging features. They are an increasingly recognized complication of both CNS external beam radiation therapy and stereotactic radiosurgery. We identified 13 patients with radiation-induced vascular "malformations" in our surgical neuropathology databases searched from 2000 to 2016; 4 had received their therapy during childhood; 5 had received radiosurgery...
September 30, 2016: Journal of Neuropathology and Experimental Neurology
Carlo Ticconi, Adalgisa Pietropolli, Giovanni Rezza
Recent data strongly suggest an association between the current outbreak of ZIKA virus (ZIKV) in many countries of Central and South America and a sharp increase in the detection of microcephaly and fetal malformations. The link with brain defect, which has been detected mainly in some areas of Brazil, is supported by the following evidence: (1) ZIKV transmission from infected pregnant women to their fetuses; (2) the potential of ZIKV to determine a specific congenital fetal syndrome characterized by abnormalities involving primarily the developing brain and eye...
September 30, 2016: Pathogens and Global Health
Chenlong Yang, Jizong Zhao, Bingquan Wu, Haohao Zhong, Yan Li, Yulun Xu
Cerebral cavernous malformation (CCM) is a congenital vascular anomaly predominantly located within the central nervous system. Its familial forms (familial cerebral cavernous malformation (FCCM)), inherited in an autosomal dominant manner with incomplete penetrance, are attributed to mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes. To date, little is known about the genetic alterations leading to FCCM in the Chinese population. We aimed to investigate the genetic defect of FCCM by DNA sequencing in Chinese families...
September 20, 2016: Journal of Molecular Neuroscience: MN
Antonio Perez-Aytes, Purificacion Marin-Reina, Virginia Boso, Ana Ledo, John C Carey, Maximo Vento
Mycophenolate mofetil (MMF) is probably the most common employed immunosuppressant drug in recipients of solid organ transplant and in many autoimmune diseases. In vitro studies, a significant number of single clinical observations and a recent study from a group of different European teratogen information services, have provided very consistent data supporting the existence of a specific MMF embryopathy. The typical malformative pattern of MMF embryopathy includes external ear anomalies ranging from hypoplastic pinna (microtia) to complete absence of pinna (anotia); cleft lip, with or without cleft palate, and ocular anomalies as iris or chorioretinal coloboma and anophthalmia/microphthalmia...
September 14, 2016: European Journal of Medical Genetics
Forrest T Goodfellow, Blanka Tesla, Gregory Simchick, Qun Zhao, Thomas Hodge, Melinda A Brindley, Steven L Stice
The explosive spread of the Zika virus (ZIKV) through South and Central America has been linked to an increase in congenital birth defects, specifically microcephaly. Representative rodent models for investigating infections include direct central nervous system (CNS) injections late in pregnancy and transplacental transmission in immunodeficient mice. Microcephaly in humans may be the result of infection occurring early in pregnancy, therefore recapitulating that the human course of ZIKV infection should include normal embryo exposed to ZIKV during the first trimester...
October 17, 2016: Stem Cells and Development
Hye-Kyung Yoon, Seong Whi Cho
Brain ultrasound is widely used for the screening of prematurely born babies. Although the best imaging modality for the central nervous system anomaly is brain MRI, the first imaging study in the post-natal period is brain ultrasonography in most cases. Anomalies could be found incidentally on screening ultrasound, or in those cases already suspected on prenatal ultrasound. In order not to miss congenital structural abnormalities of the brain on screening ultrasound, systematic approaches would be very helpful...
September 2016: Medical Ultrasonography
Christovam Barcellos, Diego Ricardo Xavier, Ana Pavão, Cristiano Boccolini, Fatima Pina Marcel Pedroso, Dalia Romero, Anselmo Romão
Evidence is increasing that Zika virus can cause extensive damage to the central nervous system, affecting both fetuses and adults. We sought to identify traces of possible clinical manifestations of nervous system diseases among the registers of hospital admissions recorded in the Brazilian Unified Health System. Time series of several diagnoses from the International Classification of Diseases, 10th Revision, were analyzed by using control diagrams, during January 2008-February 2016. Beginning in mid-1914, we observed an unprecedented and significant rise in the hospitalization rate for congenital malformations of the nervous system, Guillain-Barré syndrome, encephalitis, myelitis, and encephalomyelitis...
November 15, 2016: Emerging Infectious Diseases
Rezvan Rafatjoo, Amene Taghdisi Kashani
Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected such as the central nervous system, eyes, hair, nails and teeth. The disease has an X-linked dominant inheritance pattern. But in our case, there was a mutation in the body cells due to incontinentia pigmenti. The dermatological findings occur in four successive phases. We report the case of a 10-year-old female presented cutaneous, dental and ophthalmic characteristic with 3 years follow-up...
September 2016: Journal of Dentistry
Elisa Merello, Marco Pavanello, Alessandro Consales, Samantha Mascelli, Alessandro Raso, Andrea Accogli, Armando Cama, Capra Valeria, Patrizia De Marco
Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Heterozygous loss of function mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in about 90 % of familial cases of CCMs and two thirds of sporadic cases with multiple lesions. In this study, we performed genetic screening of a cohort of 31 patients, mainly pediatric. We analyzed the CCM1, CCM2, and CCM3 genes by multiplex ligation-dependent probe amplification (MLPA) and direct sequencing of exons and intronic boundaries...
October 2016: Journal of Molecular Neuroscience: MN
David A Schwartz
Context .- Pathology studies have been important in concluding that Zika virus infection occurring in pregnant women can result in vertical transmission of the agent from mother to fetus. Fetal and infant autopsies have provided crucial direct evidence that Zika virus can infect an unborn child, resulting in microcephaly, other malformations, and, in some cases, death. Objective .- To better understand the etiologic role and mechanism(s) of Zika virus in causing birth defects such as microcephaly, this communication analyzes the spectrum of clinical and autopsy studies reported from fetuses and infants who developed intrauterine Zika virus infection, and compares these findings with experimental data related to Zika virus infection...
August 24, 2016: Archives of Pathology & Laboratory Medicine
Adriana Izquierdo-Lahuerta, Oscar de Luis, Francisco Gómez-Esquer, Jesús Cruces, Antonio Coloma
Alpha-dystroglycanopathies are a heterogenic group of human rare diseases that have in common defects of α-dystroglycan O-glycosylation. These congenital disorders share common features as muscular dystrophy, malformations on central nervous system and more rarely altered ocular development, as well as mutations on a set of candidate genes involved on those syndromes. Severity of the syndromes is variable, appearing Walker-Warburg as the most severe where mutations at protein O-mannosyl transferases POMT1 and POMT2 genes are frequently described...
September 23, 2016: Biochemical and Biophysical Research Communications
Huanjiao Jenny Zhou, Lingfeng Qin, Haifeng Zhang, Wenwen Tang, Weidong Ji, Yun He, Xiaoling Liang, Zongren Wang, Qianying Yuan, Alexander Vortmeyer, Derek Toomre, Germaine Fuh, Minghong Yan, Martin S Kluger, Dianqing Wu, Wang Min
Cerebral cavernous malformations (CCMs) are vascular malformations that affect the central nervous system and result in cerebral hemorrhage, seizure and stroke. CCMs arise from loss-of-function mutations in one of three genes: KRIT1 (also known as CCM1), CCM2 or PDCD10 (also known as CCM3). PDCD10 mutations in humans often result in a more severe form of the disease relative to mutations in the other two CCM genes, and PDCD10-knockout mice show severe defects, the mechanistic basis for which is unclear. We have recently reported that CCM3 regulates exocytosis mediated by the UNC13 family of exocytic regulatory proteins...
September 2016: Nature Medicine
Chunyue Miao, Qian Jiang, Huili Li, Qin Zhang, Baoling Bai, Yihua Bao, Ting Zhang
Neural tube defects (NTDs) are severe malformations of the central nervous system caused by complex genetic and environmental factors. Among genes involved in NTD, cilia-related genes have been well defined and found to be essential for the completion of neural tube closure (NTC). We have carried out next-generation sequencing on target genes in 373 NTDs and 222 healthy controls, and discovered eight disease-specific rare mutations in cilia-related gene DNAAF1 DNAAF1 plays a central role in cytoplasmic preassembly of distinct dynein-arm complexes, and is expressed in some key tissues involved in neural system development, such as neural tube, floor plate, embryonic node, and brain ependyma epithelial cells in zebrafish and mouse...
October 13, 2016: G3: Genes—Genomes—Genetics
Helen Williams
It is proposed that negative central nervous system (CNS) pressure is one of the filling mechanisms of the fluid spaces of the CNS. Negative CNS pressure is caused by the combination of gravitational force and body movement. The venous system imposes pressure fluctuations on the CNS due to changes in posture and body cavity pressure. It is proposed here that filling of veins, arteries and cerebrospinal (CSF) spaces are all assisted by negative CNS pressure. Hyperemia in the CNS in response to pressure changes with movement was described in the first part of this hypothesis...
September 2016: Medical Hypotheses
Marco Stieger, Robert E Hunger
BACKGROUND: Gorlin syndrome, also known as the basal cell nevus syndrome (OMIM #109400), is a rare autosomal-dominant genetic disease. The disease, which shows mutation of the patched receptor gene (PTCH1) of the sonic hedgehog pathway, is characterized by developing multiple basal cell carcinomas (BCCs) in adolescent patients. Other clinical features include mandibular keratocysts, palmar and plantar pits, skeletal abnormalities and malformations central nervous system and genital tract...
2016: Dermatology: International Journal for Clinical and Investigative Dermatology
Yue-Feng Jiang, Yang Liu, Ye-Lin Wang, Hong-Yi Cao, Liang Wang, Hong-Tao Xu, Qing-Chang Li, Xue-Shan Qiu, En-Hua Wang
BACKGROUND: Pleomorphic xanthoastrocytoma is rare, accounting for <1 % of all central nervous system (CNS) neoplasms. Angiomatous pleomorphic xanthoastrocytoma is an extremely rare variant of pleomorphic xanthoastrocytoma, with only six cases reported thus far. CASE PRESENTATION: A 24-year-old Chinese female patient who presented with seizure and loss of consciousness for 15 min underwent computed tomography and magnetic resonance imaging, which revealed a mass in the left parietal lobe...
August 9, 2016: Diagnostic Pathology
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