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https://www.readbyqxmd.com/read/28540107/a-prospective-study-of-spectrum-risk-factors-and-immediate-outcome-of-congenital-anomalies-in-bida-north-central-nigeria
#1
Man Adeboye, M B Abdulkadir, O A Adegboye, A O Saka, P D Oladele, D M Oladele, E C Eze, O O Adeyemi, U Abubakar, A Grace, B F Rotimi
BACKGROUND: Congenital disorders are structural, metabolic, behavioral and functional disorders that are present at birth. Their manifestations are protean ranging from mild anomalies to life-threatening conditions. AIM: The objectives of this study were to describe the congenital anomalies in children seen at Federal Medical Center, Bida over a 12 month period, determine possible factors associated with these anomalies; and their short term outcome. SUBJECTS AND METHODS: Children with clinically recognized congenital malformations were recruited consecutively over a 12 month period and socio-demographic, etiologic and other relevant clinical data were obtained...
November 2016: Annals of Medical and Health Sciences Research
https://www.readbyqxmd.com/read/28521822/central-nervous-system-manganese-induced-lesions-and-clinical-consequences-in-patients-with-hereditary-hemorrhagic-telangiectasia
#2
M M Serra, C H Besada, A Cabana Cal, A Saenz, C V Stefani, D Bauso, A B Golimstok, J C Bandi, D H Giunta, C M Elizondo
BACKGROUND: Around 47-74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 sequences a hyper-intensity signal in different areas, mainly in the basal ganglia (BG) as consequence of manganese (Mn) deposits as observed in cirrhotic patients. These patients might suffer from different neuropsychiatric disorders (hepatic encephalopathy). In HHT patients, even in the presence of hepatic shunts, hepatocellular function is usually preserved...
May 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28518043/congenital-malformations-of-calves-infected-with-shamonda-virus-southern-japan
#3
Yoshimasa Hirashima, Shoei Kitahara, Tomoko Kato, Hiroaki Shirafuji, Shogo Tanaka, Tohru Yanase
In 2015 and 2016, we observed 15 malformed calves that were exposed to intrauterine infection with Shamonda virus, a Simbu serogroup orthobunyavirus, in Japan. Characteristic manifestations were arthrogryposis and gross lesions in the central nervous system. Our results indicate that this arbovirus should be considered a teratogenic virus in ruminants.
June 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28501042/behavior-changes-and-gait-unsteadiness-the-value-of-imaging-and-prompt-neurosurgical-intervention
#4
Andreia Costa, Cláudia Marques-Matos, Carina Reis, Marta Carvalho, Madalena Pinto
Cavernous angiomas are central nervous system malformations. Most common manifestations are seizures and acute focal neurological deficits. We present a case report of a seventy-one year-old man with a two-month history of behavior changes, attention deficit and indifference followed by gait unsteadiness. Neuropsychological evaluation showed severe cognitive impairment and executive dysfunction. Head computed tomography depicted a supraventricular hydrocephaly. Magnetic resonance imaging revealed a small hemorrhage, contiguous to a mesencephalic cavernous angioma, obstructing the Sylvius aqueduct, causing secondary hydrocephalus...
January 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28500274/combined-hmg-coa-reductase-and-prenylation-inhibition-in-treatment-of-ccm
#5
Sayoko Nishimura, Ketu Mishra-Gorur, JinSeok Park, Yulia V Surovtseva, Said M Sebti, Andre Levchenko, Angeliki Louvi, Murat Gunel
Cerebral cavernous malformations (CCMs) are common vascular anomalies that develop in the central nervous system and, more rarely, the retina. The lesions can cause headache, seizures, focal neurological deficits, and hemorrhagic stroke. Symptomatic lesions are treated according to their presentation; however, targeted pharmacological therapies that improve the outcome of CCM disease are currently lacking. We performed a high-throughput screen to identify Food and Drug Administration-approved drugs or other bioactive compounds that could effectively suppress hyperproliferation of mouse brain primary astrocytes deficient for CCM3...
May 23, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28480548/expanding-the-phenotypic-spectrum-of-truncating-pogz-mutations-association-with-cns-malformations-skeletal-abnormalities-and-distinctive-facial-dysmorphism
#6
Maria Lisa Dentici, Marcello Niceta, Francesca Pantaleoni, Sabina Barresi, Paola Bencivenga, Bruno Dallapiccola, Maria Cristina Digilio, Marco Tartaglia
Exome sequencing has led to the comprehension of the molecular bases of several forms of neurodevelopmental disorders, a clinically heterogeneous group of diseases characterized by intellectual disability (ID) and autism spectrum disorder (ASD). De novo mutations in POGZ has been causally linked to isolated ASD and syndromic ID, only recently. Here we report on a 15 year-old girl in whom exome sequencing allowed to identify a de novo POGZ truncating mutation as the molecular cause underlying a complex phenotype apparently not fitting any recognized syndrome...
May 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28435119/linear-accelerator-stereotactic-radiosurgery-of-central-nervous-system-arteriovenous-malformations-a-15-year-analysis-of-outcome-related-factors-in-a-single-tertiary-center
#7
José Luis Thenier-Villa, Raúl Alejandro Galárraga-Campoverde, Rosa María Martínez Rolán, Adolfo Ramón De La Lama Zaragoza, Pedro Martínez Cueto, Víctor Muñoz Garzón, Manuel Salgado Fernández, Cesáreo Conde Alonso
No abstract text is available yet for this article.
April 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28433846/factors-associated-with-postoperative-complications-in-hydrocephalic-infants-diagnosed-at-bernard-mevs-hospital-in-port-au-prince-haiti-from-2011-to-2013
#8
Floreine-Jemima Joseph, Joseph Bernard, Sylvio Augustin
OBJECTIVE: Complications worsen the prognosis of hydrocephalic children who undergo surgery. The main objective of this study was to determine factors associated with postoperative complications in Haitian hydrocephalic infants. METHODS: This is a cross-sectional study conducted on hydrocephalic infants diagnosed in a Haitian hospital from 2011 to 2013. Records were consulted to gather key variables that were evaluated in relation to the occurrence of postoperative complications...
April 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28419085/neonatal-outcomes-of-moderatelyly-preterm-infants-compared-to-extremely-preterm-infants
#9
Michele C Walsh, Edward F Bell, Sarah Kandefer, Shampa Saha, Waldemar A Carlo, Carl T D'Angio, Abbot R Laptook, Pablo J Sanchez, Barbara J Stoll, Seetha Shankaran, Krisa P Van Meurs, Noah Cook, Rosemary D Higgins, Abhik Das, Nancy S Newman, Kurt Schibler, Barbara Schmidt, C Michael Cotten, Brenda B Poindexter, Kristi L Watterberg, William E Truog
BACKGROUND: Extremely preterm infants (EPT, <29 weeks' gestation) represent only 0.9% of births in the U.S., yet these infants are focus of most published research. Moderately preterm neonates (MPT, 29-33(6/7) weeks), are an understudied group of high-risk infants. METHODS: Objective: To determine the neonatal outcomes of MPT across the gestational age spectrum, and to compare these to EPT. A prospective observational cohort was formed in 18 Level 3-4 NICUs in the Eunice Kennedy Shriver NICHD Neonatal Research Network...
April 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28413896/congenital-malformations-palliative-care-and-postnatal-redirection-to-more-intensive-treatment-a-review-at-a-swiss-tertiary-center
#10
Ulrich Pfeifer, Deborah Gubler, Eva Bergstraesser, Dirk Bassler
PURPOSE: The so-called lethal malformations pose ethical challenges. Most affected fetuses die before or at birth. Live-born neonates commonly receive palliative care. If the postnatal course is better than expected, redirection towards more treatment may occur. We aimed to analyze this in a Swiss patient cohort. MATERIALS AND METHODS: Over 6 years, fetal malformation was suspected in 1113 cases. We identified patients prenatally assigned to palliative care, assessed pre- and postnatal diagnoses, and outcomes...
April 16, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28398708/evidence-of-gene-gene-interactions-between-mthfd1-and-mthfr-in-relation-to-anterior-encephalocele-susceptibility-in-northeast-india
#11
Hemonta Kr Dutta, Debasish Borbora, Mauchumi Baruah, Kanwar Narain
BACKGROUND: Anterior encephalocele (AE) is a rare congenital anomaly of the central nervous system which is thought to be associated with genetic defects in folate metabolism. METHODS: This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958G>A (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133) and 1298A>C (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population...
April 3, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28397213/-analysis-of-genome-wide-copy-number-variations-among-fetuses-with-abnormalities-detected-by-prenatal-ultrasouography
#12
Ke Wu, Shaohua Tang, Chong Chen, Huanzheng Li, Lili Zhou, Jianxin Lyu
OBJECTIVE: To explore the genetic etiology of fetal abnormalities detected by prenatal ultrasound through single nucleotide polymorphism (SNP array) analysis. METHODS: Two hundred and eight fetuses were tested with SNP array and conventional karyotyping. Complex copy number variations (CNVs) were verified with fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and quantitative fluorescence polymerase chain reaction (QF-PCR)...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28394887/transmission-of-zika-virus-through-breast-milk-and-other-breastfeeding-related-bodily-fluids-a-systematic-review
#13
Susannah Colt, Maria N Garcia-Casal, Juan Pablo Peña-Rosas, Julia L Finkelstein, Pura Rayco-Solon, Zita C Weise Prinzo, Saurabh Mehta
BACKGROUND: Zika virus (ZIKV) infection is an emerging mosquito-borne disease, which is associated with an increase in central nervous system malformations and newborn microcephaly cases. This review investigated evidence of breastfeeding transmission from ZIKV-infected mothers to their children and the presence of ZIKV infection in breastfeeding-related fluids. METHODOLOGY/PRINCIPAL FINDINGS: We conducted a systematic review of observational studies, case studies, and surveillance reports involving breastfeeding women with ZIKV infection in several international databases...
April 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28384133/vital-signs-update-on-zika-virus-associated-birth-defects-and-evaluation-of-all-u-s-infants-with-congenital-zika-virus-exposure-u-s-zika-pregnancy-registry-2016
#14
Megan R Reynolds, Abbey M Jones, Emily E Petersen, Ellen H Lee, Marion E Rice, Andrea Bingham, Sascha R Ellington, Nicole Evert, Sarah Reagan-Steiner, Titilope Oduyebo, Catherine M Brown, Stacey Martin, Nina Ahmad, Julu Bhatnagar, Jennifer Macdonald, Carolyn Gould, Anne D Fine, Kara D Polen, Heather Lake-Burger, Christina L Hillard, Noemi Hall, Mahsa M Yazdy, Karnesha Slaughter, Jamie N Sommer, Alys Adamski, Meghan Raycraft, Shannon Fleck-Derderian, Jyoti Gupta, Kimberly Newsome, Madelyn Baez-Santiago, Sally Slavinski, Jennifer L White, Cynthia A Moore, Carrie K Shapiro-Mendoza, Lyle Petersen, Coleen Boyle, Denise J Jamieson, Dana Meaney-Delman, Margaret A Honein
BACKGROUND: In collaboration with state, tribal, local, and territorial health departments, CDC established the U.S. Zika Pregnancy Registry (USZPR) in early 2016 to monitor pregnant women with laboratory evidence of possible recent Zika virus infection and their infants. METHODS: This report includes an analysis of completed pregnancies (which include live births and pregnancy losses, regardless of gestational age) in the 50 U.S. states and the District of Columbia (DC) with laboratory evidence of possible recent Zika virus infection reported to the USZPR from January 15 to December 27, 2016...
April 7, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28362184/surveillance-survey-of-family-history-in-children-with-neural-tube-defects
#15
Esther B Dupépé, Daxa M Patel, Brandon G Rocque, Betsy Hopson, Anastasia A Arynchyna, E Ralee' Bishop, Jeffrey P Blount
OBJECTIVE Although there are known risk factors for the development of neural tube defects (NTDs), little is known regarding the role of family history. The authors' goal in this study is to describe the family history in their population of patients with NTDs. METHODS Surveys were completed for 254 patients who were accompanied by their biological mother during their annual visit to the multidisciplinary Spina Bifida Clinic at Children's of Alabama. An NTD has been diagnosed in all patients who are seen in this clinic (myelomeningocele, lipomeningocele, split cord malformation, and congenital dermal sinus tract)...
March 31, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28345735/-supratentorial-cavernous-malformations-in-an-argentinian-institution-experience-with-surgical-treatment
#16
G E Vergara, A Cervio, M Farez, R Mormandi, S Condomi-Alcorta, J Salvat
INTRODUCTION: Cavernous malformations are vascular malformations of the central nervous system formed by a group of capillaries not covered by pia mater and communicated to the vascular system at very low pressure with very slow flow. Surgery or radiosurgery are the treatment modalities. AIMS: To analyze our results after surgical treatment of supratentorial cavernous malformations, reviewing clinical presentation, surgical indications and postoperative complications...
April 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28341853/non-cell-autonomous-role-of-dcc-in-the-guidance-of-the-corticospinal-tract-at-the-midline
#17
Quentin Welniarz, Marie-Pierre Morel, Oriane Pourchet, Cécile Gallea, Jean-Charles Lamy, Massimo Cincotta, Mohamed Doulazmi, Morgane Belle, Aurélie Méneret, Oriane Trouillard, Marta Ruiz, Vanessa Brochard, Sabine Meunier, Alain Trembleau, Marie Vidailhet, Alain Chédotal, Isabelle Dusart, Emmanuel Roze
DCC, a NETRIN-1 receptor, is considered as a cell-autonomous regulator for midline guidance of many commissural populations in the central nervous system. The corticospinal tract (CST), the principal motor pathway for voluntary movements, crosses the anatomic midline at the pyramidal decussation. CST fails to cross the midline in Kanga mice expressing a truncated DCC protein. Humans with heterozygous DCC mutations have congenital mirror movements (CMM). As CMM has been associated, in some cases, with malformations of the pyramidal decussation, DCC might also be involved in this process in human...
March 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28332092/the-spectrum-of-neuropathological-changes-associated-with-congenital-zika-virus-infection
#18
Leila Chimelli, Adriana S O Melo, Elyzabeth Avvad-Portari, Clayton A Wiley, Aline H S Camacho, Vania S Lopes, Heloisa N Machado, Cecilia V Andrade, Dione C A Dock, Maria Elisabeth Moreira, Fernanda Tovar-Moll, Patricia S Oliveira-Szejnfeld, Angela C G Carvalho, Odile N Ugarte, Alba G M Batista, Melania M R Amorim, Fabiana O Melo, Thales A Ferreira, Jacqueline R L Marinho, Girlene S Azevedo, Jeime I B F Leal, Rodrigo F Madeiro da Costa, Stevens Rehen, Monica B Arruda, Rodrigo M Brindeiro, Rodrigo Delvechio, Renato S Aguiar, Amilcar Tanuri
A major concern associated with ZIKV infection is the increased incidence of microcephaly with frequent calcifications in infants born from infected mothers. To date, postmortem analysis of the central nervous system (CNS) in congenital infection is limited to individual reports or small series. We report a comprehensive neuropathological study in ten newborn babies infected with ZIKV during pregnancy, including the spinal cords and dorsal root ganglia (DRG), and also muscle, pituitaries, eye, systemic organs, and placentas...
March 22, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28328134/somatic-pik3ca-mutations-in-seven-patients-with-pik3ca-related-overgrowth-spectrum
#19
Kit San Yeung, Janice Jing Kun Ip, Chin Pang Chow, Evelyn Yue Ling Kuong, Paul Kwong-Hang Tam, Godfrey Chi-Fung Chan, Brian Hon-Yin Chung
Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the "PIK3CA-Related Overgrowth Spectrum." Here, we present seven molecularly confirmed patients with PIK3CA-Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel-Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA-Related Overgrowth Spectrum, suggests that PIK3CA c...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28319995/clinical-trials-of-therapeutics-for-the-prevention-of-congenital-zika-virus-disease-challenges-and-potential-solutions
#20
Alex P Salam, Amanda Rojek, Jake Dunning, Peter W Horby
Zika virus (ZIKV) infection in pregnancy is associated with adverse fetal outcomes, such as microcephaly and other congenital malformations. No therapeutic options are available to pregnant women with ZIKV infection to prevent these effects. Drug trials in pregnancy raise several scientific, ethical, and logistic challenges, which are compounded further in ZIKV because of limited knowledge of the disease pathophysiology and a product development pipeline in its infancy. We evaluate the major challenges in choosing therapeutics to prevent congenital ZIKV disease and conducting clinical trials of these treatments, with a focus on preventing congenital central nervous system malformations...
May 16, 2017: Annals of Internal Medicine
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