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Microcephaly

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https://www.readbyqxmd.com/read/29353032/clinical-assessment-and-brain-findings-in-a-cohort-of-mothers-fetuses-and-infants-infected-with-zika-virus
#1
Magdalena Sanz Cortes, Ana Maria Rivera, Mayel Yepez, Carolina V Guimaraes, Israel Diaz Yunes, Alexander Zarutskie, Ivan Davila, Anil Shetty, Arun Mahadev, Saray Maria Serrano, Nicolas Castillo, Wesley Lee, Gregory Valentine, Michael Belfort, Guido Parra, Carrie Mohila, Kjersti Aagaard, Miguel Parra
BACKGROUND: Congenital Zika virus (ZIKV) infection can be detected in both the presence and absence of microcephaly, and manifests as a number of signs and symptoms detected clinically and by neuroimaging. However, to date, qualitative and quantitative measures for the purpose of diagnosis and prognosis are limited. OBJECTIVES: Main objectives of this study conducted on fetuses and infants with confirmed congenital ZIKV infection and detected brain abnormalities are: 1) To assess the prevalence of microcephaly and the frequency of the anomalies including a detailed description based on ultrasound and magnetic resonance imaging (MRI) in fetuses and ultrasound, MRI and computed tomography imaging postnatally; 2) To provide quantitative measures of fetal and infant brain findings by MRI using volumetric analyses and diffusion weighted imaging (DWI); 3) To obtain additional information from placental and fetal histopathological assessments and postnatal clinical evaluations...
January 15, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29352115/stil-balancing-primary-microcephaly-and-cancer
#2
REVIEW
Patwardhan Dhruti, Mani Shyamala, Passemard Sandrine, Gressens Pierre, El Ghouzzi Vincent
Cell division and differentiation are two fundamental physiological processes that need to be tightly balanced to achieve harmonious development of an organ or a tissue without jeopardizing its homeostasis. The role played by the centriolar protein STIL is highly illustrative of this balance at different stages of life as deregulation of the human STIL gene expression has been associated with either insufficient brain development (primary microcephaly) or cancer, two conditions resulting from perturbations in cell cycle and chromosomal segregation...
January 19, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29352094/auditory-brainstem-function-in-microcephaly-related-to-zika-virus-infection
#3
Dimitri Marques Abramov, Tania Saad, Saint-Clair Gomes-Junior, Daniel de Souza E Silva, Izabel Araújo, Maria Elizabeth Lopes Moreira, Vladimir V Lazarev
OBJECTIVE: To study the effect of prenatal Zika virus (ZV) infection on brainstem function reflected in brainstem auditory evoked potentials (BAEPs). METHODS: In a cross-sectional study in 19 children (12 girls) with microcephaly related to ZV infection, aged between 12 and 62 weeks, the brainstem function was examined through BAEPs. The latencies of wave peaks I, III, and V of the left and right ears (n = 37) were standardized according to normative data, and compared between them by 2-tailed t test...
January 19, 2018: Neurology
https://www.readbyqxmd.com/read/29349289/mixed-neurodevelopmental-and-neurodegenerative-pathology-in-nhe6-null-mouse-model-of-christianson-syndrome
#4
Meiyu Xu, Qing Ouyang, Jingyi Gong, Matthew F Pescosolido, Brandon S Pruett, Sasmita Mishra, Michael Schmidt, Richard N Jones, Ece D Gamsiz Uzun, Sofia B Lizarraga, Eric M Morrow
Christianson syndrome (CS) is an X-linked disorder resulting from loss-of-function mutations in SLC9A6, which encodes the endosomal Na+/H+ exchanger 6 (NHE6). Symptoms include early developmental delay, seizures, intellectual disability, nonverbal status, autistic features, postnatal microcephaly, and progressive ataxia. Neuronal development is impaired in CS, involving defects in neuronal arborization and synaptogenesis, likely underlying diminished brain growth postnatally. In addition to neurodevelopmental defects, some reports have supported neurodegenerative pathology in CS with age...
November 2017: ENeuro
https://www.readbyqxmd.com/read/29346650/persistence-of-zika-virus-after-birth-clinical-virological-neuroimaging-and-neuropathological-documentation-in-a-5-month-infant-with-congenital-zika-syndrome
#5
Leila Chimelli, Sheila Moura Pone, Elyzabeth Avvad-Portari, Zilton Farias Meira Vasconcelos, Andrea Araújo Zin, Daniela Prado Cunha, Nathalia Raposo Thompson, Maria Elisabeth Lopes Moreira, Clayton A Wiley, Marcos Vinicius da Silva Pone
During the Zika epidemic in Brazil, a baby was born at term with microcephaly and arthrogryposis. The mother had Zika symptoms at 10 weeks of gestation. At 17 weeks, ultrasound showed cerebral malformation and ventriculomegaly. At 24 weeks, the amniotic fluid contained ZIKV RNA and at birth, placenta and maternal blood were also positive using RT-qPCR. At birth the baby urine contained ZIKV RNA, whereas CSF at birth and urine at 17 days did not. Seizures started at 6 days. EEG was abnormal and CT scan showed cerebral atrophy, calcifications, lissencephaly, ventriculomegaly, and cerebellar hypoplasia...
January 13, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29346415/acute-multi-sgrna-knockdown-of-keops-complex-genes-reproduces-the-microcephaly-phenotype-of-the-stable-knockout-zebrafish-model
#6
Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Ronen Schneider, Charlotte A Hoogstraten, Jeremy F P Ullmann, David Schapiro, Amar J Majmundar, Amy Kolb, Kaitlyn Eddy, Shirlee Shril, Daniela A Braun, Annapurna Poduri, Friedhelm Hildebrandt
Until recently, morpholino oligonucleotides have been widely employed in zebrafish as an acute and efficient loss-of-function assay. However, off-target effects and reproducibility issues when compared to stable knockout lines have compromised their further use. Here we employed an acute CRISPR/Cas approach using multiple single guide RNAs targeting simultaneously different positions in two exemplar genes (osgep or tprkb) to increase the likelihood of generating mutations on both alleles in the injected F0 generation and to achieve a similar effect as morpholinos but with the reproducibility of stable lines...
2018: PloS One
https://www.readbyqxmd.com/read/29346287/development-of-zika-virus-vaccines
#7
REVIEW
Huda Makhluf, Sujan Shresta
Zika virus (ZIKV) is a mosquito-borne flavivirus that emerged as a global threat following the most recent outbreak in Brazil in 2015. ZIKV infection of pregnant women is associated with fetal abnormalities such as microcephaly, and infection of adults can lead to Guillain-Barré syndrome, an autoimmune disease characterized by neurological deficits. Although there are currently licensed vaccines for other flaviviruses, there remains an urgent need for preventative vaccines against ZIKV infection. Herein we describe the current efforts to accelerate the development of ZIKV vaccines using various platforms, including live attenuated virus, inactivated virus, DNA and RNA, viral vectors, and in silico-predicted immunogenic viral epitopes...
January 18, 2018: Vaccines
https://www.readbyqxmd.com/read/29344426/zika-microcephaly
#8
Murali K Kolikonda, Kavitha Srinivasan, Manasa Enja, Vishwanath Sagi, Steven Lippmann
No abstract text is available yet for this article.
September 2017: Innovations in Clinical Neuroscience
https://www.readbyqxmd.com/read/29343805/biallelic-variants-in-kif14-cause-intellectual-disability-with-microcephaly
#9
Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, Damir Musaev, Maha S Zaki, Iman G Mahmoud, Laila Selim, Amera Elbadawy, Shalini N Jhangiani, Zeynep H Coban Akdemir, Tomasz Gambin, Hanne S Sorte, Arvid Heiberg, Jennifer McEvoy-Venneri, Kiely N James, Valentina Stanley, Denice Belandres, Michel Guipponi, Federico A Santoni, Najmeh Ahangari, Fatemeh Tara, Mohammad Doosti, Justyna Iwaszkiewicz, Vincent Zoete, Paul Hoff Backe, Hanan Hamamy, Joseph G Gleeson, James R Lupski, Ehsan Ghayoor Karimiani, Stylianos E Antonarakis
Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals with intellectual disability and microcephaly from four unrelated families with parental consanguinity. In the affected individuals of each family, homozygosity for likely pathogenic variants in KIF14 were detected; two loss-of-function (p.Asn83Ilefs*3 and p.Ser1478fs), and two missense substitutions (p...
January 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29343804/compound-heterozygous-spata5-variants-in-four-families-and-functional-studies-of-spata5-deficiency
#10
Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J Rodenburg, Dzhamilja Safiulina, Tim M Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B Haack, Katrin Õunap
Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, cortical visual impairment and microcephaly. SPATA5 protein localizes predominantly in the mitochondria and is proposed to be involved in mitochondrial function and brain developmental processes. However no functional studies have been performed. This study describes five patients with psychomotor developmental delay, microcephaly, epilepsy and hearing impairment, who were thought clinically to have a mitochondrial disease with subsequent whole-exome sequencing analysis detecting compound heterozygous variants in the SPATA5 gene...
January 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29343580/advancing-our-understanding-of-protective-maternal-immunity-as-a-guide-for-development-of-vaccines-to-reduce-congenital-cytomegalovirus-infections
#11
Sallie R Permar, Mark R Schleiss, Stanley A Plotkin
Human cytomegalovirus (HCMV) is the most common congenitally transmitted pathogen worldwide, impacting an estimated 1 million newborns annually. Congenital HCMV (cCMV) infection is a major global contributor to long-term neurologic deficits, including deafness, microcephaly, neurodevelopmental delay, as well as fetal loss and occasional infant mortality. Accordingly, a maternal vaccine to prevent cCMV continues to be a top public health priority. Nevertheless, we remain without a licensed vaccine. Maternal immunity provides partial protection, as the risk of vertical HCMV transmission from chronically infected mothers is reduced compared to settings in which the mother is newly infected during pregnancy...
January 17, 2018: Journal of Virology
https://www.readbyqxmd.com/read/29341037/reply-to-zika-virus-infection-pregnancy-and-microcephaly
#12
Geraldo Duarte
No abstract text is available yet for this article.
January 2018: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/29341036/zika-virus-infection-pregnancy-and-microcephaly
#13
Won Sriwijitalai, Viroj Wiwanitkit
No abstract text is available yet for this article.
January 2018: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/29333838/solitary-median-maxillary-central-incisor-holoprosencephaly-and-congenital-nasal-pyriform-aperture-stenosis-in-a-premature-infant-case-report
#14
Ozkan Ilhan, Yeliz Pekcevik, Sinem Akbay, Senem A Ozdemir, Seyma Memur, Berat Kanar, Ozgur Kirbiyik, Esra A Ozer
Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29329574/microcephaly-epidemic-related-to-the-zika-virus-and-living-conditions-in-recife-northeast-brazil
#15
Wayner Vieira de Souza, Maria de Fátima Pessoa Militão de Albuquerque, Enrique Vazquez, Luciana Caroline Albuquerque Bezerra, Antonio da Cruz Gouveia Mendes, Tereza Maciel Lyra, Thalia Velho Barreto de Araujo, André Luiz Sá de Oliveira, Maria Cynthia Braga, Ricardo Arraes de Alencar Ximenes, Demócrito de Barros Miranda-Filho, Amanda Priscila de Santana Cabral Silva, Laura Rodrigues, Celina Maria Turchi Martelli
BACKGROUND: Starting in August 2015, there was an increase in the number of cases of neonatal microcephaly in Northeast Brazil. These findings were identified as being an epidemic of microcephaly related to Zika virus (ZIKV) infection. The present study aims to analyse the spatial distribution of microcephaly cases in Recife (2015-2016), which is in Northeast Brazil, and its association with the living conditions in this city. METHODS: This was an ecological study that used data from reported cases of microcephaly from the State Health Department of Pernambuco (August 2015 to July 2016)...
January 12, 2018: BMC Public Health
https://www.readbyqxmd.com/read/29323278/structural-biology-of-zika-virus-and-other-flaviviruses
#16
REVIEW
S Saif Hasan, Madhumati Sevvana, Richard J Kuhn, Michael G Rossmann
Zika virus (ZIKV) is an enveloped, icosahedral flavivirus that has structural and functional similarities to other human flavivirus pathogens such as dengue (DENV), West Nile (WNV) and Japanese encephalitis (JEV) viruses. ZIKV infections have been linked to fetal microcephaly and the paralytic Guillain-Barré syndrome. This review provides a comparative structural analysis of the assembly, maturation and host-cell entry of ZIKV with other flaviviruses, especially DENV. We also discuss the mechanisms of neutralization by antibodies...
January 2018: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/29321361/a-novel-contiguous-deletion-involving-ndp-maob-and-efhc2-gene-in-a-patient-with-familial-norrie-disease-bilateral-blindness-and-leucocoria-without-other-deficits
#17
Bei Jia, Liping Huang, Yaoyu Chen, Siping Liu, Cuihua Chen, Ke Xiong, Lanlin Song, Yulai Zhou, Xinping Yang, Mei Zhong
Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Herewe report a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes,which causes eye defects but no cognitive disability...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29321308/sustained-specific-and-cross-reactive-t-cell-responses-to-zika-and-dengue-viruses-ns3-in-west-africa
#18
Bobby Brooke Herrera, Wen-Yang Tsai, Charlotte A Chang, Donald J Hamel, Wei-Kung Wang, Yichen Lu, Souleymane Mboup, Phyllis J Kanki
Recent studies on the role of T cells in Zika virus (ZIKV) infection have shown that T cell responses to Asian ZIKV infection are important for protection, and that previous Dengue virus (DENV) exposure amplifies the protective T cell response to Asian ZIKV. Human T cell responses to African ZIKV infection, however, remain unexplored. Here, we utilized the modified anthrax toxin delivery system to develop a flavivirus ELISPOT. Using human ZIKV and DENV samples from Senegal, West Africa, our results demonstrate specific and cross-reactive T cell responses to nonstructural protein 3 (NS3)...
January 10, 2018: Journal of Virology
https://www.readbyqxmd.com/read/29318332/-zika-virus-infection-and-the-nervous-system
#19
REVIEW
I W Husstedt, M Maschke, C Eggers, E Neuen-Jacob, G Arendt
Zika virus is an arbovirus from the family of flaviviruses, which is transmitted by the mosquito Aedes aegyptii and also by the Asian mosquito Aedes albopticus. The largest observed Zika virus epidemic is currently taking place in North and South America, in the Caribbean, southern USA and Southeast Asia. In most cases the infection is an unspecific, acute, febrile disease. Neurological manifestations consist mainly of microcephaly in newborns and Guillain-Barré syndrome but other rare manifestations have also become known in the meantime, such as meningoencephalitis and myelitis...
January 9, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29315224/the-zika-virus-epidemic-in-brazil-from-discovery-to-future-implications
#20
REVIEW
Rachel Lowe, Christovam Barcellos, Patrícia Brasil, Oswaldo G Cruz, Nildimar Alves Honório, Hannah Kuper, Marilia Sá Carvalho
The first confirmed case of Zika virus infection in the Americas was reported in Northeast Brazil in May 2015, although phylogenetic studies indicate virus introduction as early as 2013. Zika rapidly spread across Brazil and to more than 50 other countries and territories on the American continent. The Aedesaegypti mosquito is thought to be the principal vector responsible for the widespread transmission of the virus. However, sexual transmission has also been reported. The explosively emerging epidemic has had diverse impacts on population health, coinciding with cases of Guillain-Barré Syndrome and an unexpected epidemic of newborns with microcephaly and other neurological impairments...
January 9, 2018: International Journal of Environmental Research and Public Health
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