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https://www.readbyqxmd.com/read/27926639/angiotensin-converting-enzyme-inhibitors-and-the-risk-of-congenital-malformations
#1
Brian T Bateman, Elisabetta Patorno, Rishi J Desai, Ellen W Seely, Helen Mogun, Sara Z Dejene, Michael A Fischer, Alexander M Friedman, Sonia Hernandez-Diaz, Krista F Huybrechts
OBJECTIVE: To examine the association between first-trimester angiotensin-converting enzyme (ACE) inhibitor exposure and the risk of overall major congenital, cardiac, and central nervous system malformations. METHODS: We used a cohort of completed pregnancies linked to liveborn neonates derived from Medicaid claims from 2000 to 2010. We examined the risk of malformations associated with first-trimester exposure to an ACE inhibitor. Propensity score-based methods were used to control for potential confounders including maternal demographics, medical conditions, exposure to other medications, and measures of health care utilization...
December 2, 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27878613/intermittent-low-dose-bevacizumab-in-hereditary-hemorrhagic-telangiectasia-a%C3%A2-case-report
#2
Florian Huemer, Martin Dejaco, Christoph Grabmer, Thomas Melchardt, Daniel Neureiter, Georg Mayer, Alexander Egle, Richard Greil, Lukas Weiss
BACKGROUND: Hereditary hemorrhagic telangiectasia is an inherited autosomal dominant disease presenting with recurrent bleeding episodes and iron deficiency anemia due to vascular malformations. Hereditary hemorrhagic telangiectasia is associated with an increased risk of stroke, gastrointestinal bleeding and pulmonary hypertension and life expectancy is significantly reduced. Excess vascular endothelial growth factor (VEGF) plays a key role in the pathophysiology of the disease. CASE PRESENTATION: Here we report about a male patient with hereditary hemorrhagic telangiectasia presenting with pulmonary and central nervous system involvement experiencing repetitive nosebleeds, necessitating frequent local cauterization and transfusion of more than 100 units of packed red blood cells...
November 23, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27874196/prenatal-diagnosis-of-upper-extremity-malformations-with-ultrasonography-diagnostic-features-and-perinatal-outcome
#3
Mehmet Serdar Kutuk, Ozguc Altun, Sadan Tutus, Muhammet Ensar Dogan, Mahmut Tuncay Ozgun, Munis Dundar
OBJECTIVE: The aim of this study was to assess the sonographic (US) characteristics, associated malformations, chromosomal status, and perinatal outcomes of fetuses with an upper extremity malformation (UEM) detected by US examination. METHODS: The data of all patients evaluated in the Department of Obstetrics and Gynecology, Prenatal Diagnosis Unit between 2010 and 2015 were searched for UEM. RESULTS: A total of 51 cases with UEM were detected...
November 22, 2016: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/27869383/-geographic-distribution-of-perinatal-mortality-due-to-congenital-malformations-in-colombia-1999-2008-an-analysis-of-vital-statistics-data
#4
Sandra Patricia Misnaza, Claudia Patricia Roncancio, Isabel Cristina Peña, Franklin Edwin Prieto
INTRODUCTION: During 2012, 13% of the deaths worldwide in children under the age of 28 days were due to congenital malformations. In Colombia, congenital malformations are the second leading cause of infant mortality. Objective: To determine the geographical distribution of extended perinatal mortality due to congenital malformations in Colombia between 1999 and 2008. Materials and methods: We conducted a cross-sectional study. We revised all death certificates issued between 1999 and 2008...
September 1, 2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27858393/the-clinical-predictors-of-shunt-dependent-hydrocephalus-following-aneurysmal-subarachnoid-hemorrhage
#5
Sio Iong Chang, David Hung-Tsang Yen, Ming Dar Tsai, Cheng-Ta Hsieh
AIM: Shunt-dependent hydrocephalus (SDH) is a relatively common complication following aneurysmal subarachnoid hemorrhage (aSAH). Delay in diagnosis and treatment may worsen neurological outcome. This study was conducted to identify early clinical factors associated with SDH following aSAH. MATERIAL AND METHODS: Patients diagnosed with aSAH at our hospital from January 2010 through July 2014 were included. Patients aged ≤ 18 or ≥ 90 year, with concurrent arteriovenous malformation, treated with both clipping and coiling, or not receiving definitive treatment were excluded...
October 17, 2016: Turkish Neurosurgery
https://www.readbyqxmd.com/read/27831835/imaging-of-neurologic-conditions-in-pregnant-patients
#6
Sangam Kanekar, Shante Bennett
A number of physiologic, hormonal, immunologic, and hemodynamic changes take place in the maternal body during pregnancy. The majority of these changes are essential for maintaining the normal course of pregnancy. However, these changes may also cause acute or chronic conditions that affect various biologic systems in the mother. In addition, conditions of the central and peripheral nervous systems can cause a variety of neurologic symptoms and complications. Neurologic signs and symptoms in pregnant and postpartum women may be due to the exacerbation of a preexisting medical condition, the initial manifestation of a primary central nervous system-related problem, or a neurologic problem unique to pregnancy and the postpartum period...
November 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27798989/maternal-environmental-risk-factors-for-congenital-hydrocephalus-a-systematic-review
#7
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/27798144/in-utero-exposure-to-valproic-acid-induces-neocortical-dysgenesis-via-dysregulation-of-neural-progenitor-cell-proliferation-differentiation
#8
Kimino Fujimura, Takayuki Mitsuhashi, Shinsuke Shibata, Sachiko Shimozato, Takao Takahashi
: Valproic acid (VPA), a widely used antiepileptic drug, is an inhibitor of histone deacetylases, which epigenetically modify cell proliferation/differentiation in developing tissues. A series of recent clinical studies in humans reported that VPA exposure in utero impaired histogenesis and the development of the central nervous system, leading to increased risks of congenital malformation and the impairment of higher brain functions in children. In the present study conducted in mice, we report that VPA exposure in utero (1) increases the amount of acetylated histone proteins, (2) alters the expression of G1-phase regulatory proteins, (3) inhibits the cell cycle exit of neural progenitor cells during the early stage of neocortical histogenesis, and (4) increases the production of projection neurons distributed in the superficial neocortical layers in embryonic brains...
October 19, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27792856/review-of-familial-cerebral-cavernous-malformations-and-report-of-seven-additional-families
#9
REVIEW
Ivo J H M de Vos, Maaike Vreeburg, Ger H Koek, Maurice A M van Steensel
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability. Cerebral cavernous malformations can occur sporadically, or as a familial autosomal dominant disorder (FCCM) with incomplete clinical and neuroradiological penetrance and great inter-individual variability...
October 28, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27790480/bilateral-vocal-cord-palsy-with-arnold-chiari-malformation-a-rare-case-series
#10
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/27790124/cerebral-cavernous-malformation-a-portuguese-family-with-a-novel-ccm1-mutation
#11
João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista
INTRODUCTION: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified. We describe a Portuguese family harboring a novel CCM1 mutation. CASE PRESENTATION: The proband is a woman who at the age of 55 years started to have complex partial seizures and episodic headache. Although nothing was found during her neurological examination, brain MRI showed bilateral, supra- and infratentorial cavernomas...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27742172/the-scalp-hair-collar-and-tuft-signs-a-retrospective-multicenter-study-of-78-patients-with-a-systematic-review-of-the-literature
#12
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
https://www.readbyqxmd.com/read/27723047/what-can-akabane-disease-teach-us-about-other-arboviral-diseases
#13
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
https://www.readbyqxmd.com/read/27708576/a-novel-ccm2-gene-mutation-associated-with-familial-cerebral-cavernous-malformation
#14
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
https://www.readbyqxmd.com/read/27698835/cerebellar-hemangioblastoma-mimicking-an-aneurysm-a-case-report-and-literature-review
#15
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
https://www.readbyqxmd.com/read/27694117/radiation-induced-cerebral-vascular-malformations-at-biopsy
#16
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
https://www.readbyqxmd.com/read/27690200/zika-virus-infection-and-pregnancy-what-we-do-and-do-not-know
#17
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
https://www.readbyqxmd.com/read/27649701/identification-of-a-novel-deletion-mutation-c-1780delg-and-a-novel-splice-site-mutation-c-1412-1g-a-in-the-ccm1-krit1-gene-associated-with-familial-cerebral-cavernous-malformation-in-the-chinese-population
#18
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
https://www.readbyqxmd.com/read/27639443/mycophenolate-mofetil-embryopathy-a-newly-recognized-teratogenic-syndrome
#19
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
https://www.readbyqxmd.com/read/27627457/zika-virus-induced-mortality-and-microcephaly-in-chicken-embryos
#20
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...
November 15, 2016: Stem Cells and Development
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