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Helder Rocha, André F Maia, Reto Gassmann
Cytoplasmic dynein 1 (dynein) is the predominant microtubule minus end-directed motor in animals and participates in a wide range of cellular processes, including membrane trafficking, nuclear migration, and cell division. Dynein's functional diversity depends on co-factors that regulate its subcellular localization, interaction with cargo, and motor activity. The ubiquitous co-factor nuclear distribution gene E (NudE) is implicated in many of dynein's functions, and mutations in NudE cause the brain developmental disease microcephaly...
March 20, 2018: Scientific Data
Sato Suzuki-Muromoto, Keisuke Wakusawa, Takuya Miyabayashi, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Noriko Togashi, Atsuko Kato, Hiroshi Oba, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya
Here we report a Japanese patient with new compound heterozygous truncating variants in the PCDH12 gene. As compared to the previously reported families who had congenital microcephaly, intrauterine growth retardation, intracranial calcification, and neonatal seizure associated with dysplasia of the midbrain-hypothalamus-optic tract, the present patient showed no midbrain-hypothalamus dysplasia or congenital/postnatal microcephaly, but dyskinetic cerebral palsy and severe intellectual disability as well as multifocal epilepsy...
March 19, 2018: Journal of Human Genetics
Sagar B Kudchodkar, Hyeree Choi, Emma L Reuschel, Rianne Esquivel, Jackie Jin-Ah Kwon, Moonsup Jeong, Joel N Maslow, Charles C Reed, Scott White, J Joseph Kim, Gary P Kobinger, Pablo Tebas, David B Weiner, Kar Muthumani
Vaccines are considered one of the greatest advances in modern medicine. The global burden of numerous infectious diseases has been significantly reduced, and in some cases, effectively eradicated through the deployment of specific vaccines. However, efforts to develop effective vaccines against infectious pathogens such as influenza, HIV, dengue virus (DENV), chikungunya virus (CHIKV), Ebola virus, and Zika virus (ZIKV) have proven challenging. Zika virus is a mosquito-vectored flavivirus responsible for periodic outbreaks of disease in Africa, Southeast Asia, and the Pacific Islands dating back over 50 years...
March 16, 2018: Microbes and Infection
Aparna Prasad, Matthew A Sdano, Rena J Vanzo, Patricia A Mowery-Rushton, Moises A Serrano, Charles H Hensel, E Robert Wassman
BACKGROUND: Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions within the genome, which represent potential risk for recessively inherited disorders. METHODS: To determine the frequency in which pathogenic or likely pathogenic variants can be detected in these regions of homozygosity, we performed whole exome sequencing (WES) in 53 individuals where homozygosity was detected by CMA...
March 20, 2018: BMC Medical Genetics
Ashley Howard, John Visintine, Jaime Fergie, Miguel Deleon
Since 2007, Zika virus has spread through the Pacific Islands and the Americas. Beginning in 2016, women in Brownsville, Texas, USA, were identified as possibly being exposed to Zika virus during pregnancy. We identified 18 pregnant women during 2016-2017 who had supportive serologic or molecular test results indicating Zika virus or flavivirus infection. Two infants were evaluated for congenital Zika syndrome after identification of prenatal microcephaly. Despite standard of care testing of mothers and neonates, comparative results were unreliable for mothers and infants, which highlights the need for clinical and epidemiologic evidence for an accurate diagnosis...
April 2018: Emerging Infectious Diseases
Ludovica Barbi, Antonio Victor Campos Coelho, Luiz Cláudio Arraes de Alencar, Sergio Crovella
Zika virus (ZIKV) is an emergent flavivirus transmitted mainly through Aedes spp. mosquitoes that is posing challenge to healthcare services in countries experiencing an outbreak. Usually ZIKV infection is mild, but in some cases it has been reported to progress into neurological diseases such as microcephaly in infants and Guillain-Barré syndrome (GBS) in adults. GBS is a debilitating autoimmune disorder that affects peripheral nerves. Since ZIKV caused massive outbreaks in South America in the past few years, we aimed to systematically review the literature and perform a meta-analysis to estimate the prevalence of GBS among ZIKV-infected individuals...
March 12, 2018: Brazilian Journal of Infectious Diseases
Shupeng Dong, Qiming Liang
An infection by Zika virus (ZIKV), a mosquito-borne flavivirus, broke out in South American regions in 2015, and recently showed a tendency of spreading to North America and even worldwide. ZIKV was first detected in 1947 and only 14 human infection cases were reported until 2007. This virus was previously observed to cause only mild flu-like symptoms. However, recent ZIKV infections might be responsible for the increasing cases of neurological disorders such as Guillain-Barré syndrome and congenital defects, including newborn microcephaly...
March 14, 2018: Virologica Sinica
Bruno Hoen, Bruno Schaub, Anna L Funk, Vanessa Ardillon, Manon Boullard, André Cabié, Caroline Callier, Gabriel Carles, Sylvie Cassadou, Raymond Césaire, Maylis Douine, Cécile Herrmann-Storck, Philippe Kadhel, Cédric Laouénan, Yoann Madec, Alice Monthieux, Mathieu Nacher, Fatiha Najioullah, Dominique Rousset, Catherine Ryan, Kinda Schepers, Sofia Stegmann-Planchard, Benoît Tressières, Jean-Luc Voluménie, Samson Yassinguezo, Eustase Janky, Arnaud Fontanet
BACKGROUND: The risk of congenital neurologic defects related to Zika virus (ZIKV) infection has ranged from 6 to 42% in various reports. The aim of this study was to estimate this risk among pregnant women with symptomatic ZIKV infection in French territories in the Americas. METHODS: From March 2016 through November 2016, we enrolled in this prospective cohort study pregnant women with symptomatic ZIKV infection that was confirmed by polymerase-chain-reaction (PCR) assay...
March 15, 2018: New England Journal of Medicine
C Talero-Gutiérrez, A Rivera-Molina, C Pérez-Pavajeau, I Ossa-Ospina, C Santos-García, M C Rojas-Anaya, A de-la-Torre
Zika virus (ZIKV) infection is an emergent worldwide public health problem. Historically, 84 countries have reported vector-borne ZIKV transmission, 61 of which report on-going transmission. It is a Flavivirus transmitted through arthropods belonging to the Aedes genus. Since 2015, ZIKV infections have increased dramatically; with 1.3 million people infected during 2015 in Brazil alone. This paper's objective is to highlight the conjectural epidemiological points of the virus' dissemination. The digital archives Pubmed, MEDLINE, EMBASE and Cochrane were searched for papers that assessed aspects of ZIKV transmission and epidemiology...
March 14, 2018: Epidemiology and Infection
Yazan Hassona, Dina Taimeh, Lamis Rajab, Crispian Scully
OBJECTIVES: To describe the oro-facial manifestations and dental management in a girl with Sanjad Sakati syndrome. CLINICAL PRESENTATION AND INTERVENTION: Facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. Oral examination revealed oligodontia/hypodontia, small dental arches, high arched palate, and a deep overbite and increased overjet. Oral rehabilitation involved full coverage prosthetic crowns on upper central incisors, stainless steel crowns on lower molars, and removable partial prostheses to replace missing teeth...
March 13, 2018: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
Saud Alsahli, Muhammad Talal Alrifai, Saeed Al Tala, Fuad Al Mutairi, Majid Alfadhel
Background: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait...
2018: Journal of Central Nervous System Disease
Abigail Culshaw, Juthathip Mongkolsapaya, Gavin Screaton
Zika virus (ZIKV) was initially thought to cause only mild, self-limiting symptoms. However, recent outbreaks have been associated with the autoimmune disease Guillain-Barré syndrome and causally linked to a congenital malformation known as microcephaly. This has led to an urgent need for a safe and effective vaccine. A comprehensive understanding of the immunology of ZIKV infection is required to aid in the design of such a vaccine. Whilst details of both innate and adaptive immune responses to ZIKV are emerging, further research is needed...
2018: F1000Research
Seda Çakmaklı, Tufan Çankaya, Semra Gürsoy, Altuğ Koç, Özgür Kırbıyık, Özge A Kılıçarslan, Erdener Özer, Derya Erçal, Özlem G Bozkaya
Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum...
March 9, 2018: Cytogenetic and Genome Research
Zhenjian He, Jiahui Chen, Shu An, Xinhuai Dong, Jianchen Yu, Shihao Zhang, Yun Wu, Ge Li, Yu Zhang, Jueheng Wu, Xun Zhu, Mengfeng Li
Zika virus (ZIKV) is a mosquito-borne virus that has been identified as a cause of several severe disease manifestations, including congenital microcephaly and Guillain-Barré syndrome, meningoencephalitis and myelitis. Previous studies showed that ZIKV-infected patients exhibited elevated plasma levels of interleukin-1β (IL-1β), indicating that ZIKV may activate inflammasomes. However, the molecular basis for its viral pathogenesis remains poorly understood. In this current study, we found that ZIKV infection caused severe inflammatory pathological changes and promoted IL-1β production in vitro as well as in vivo...
March 6, 2018: Journal of Infectious Diseases
Victoria Hall, William L Walker, Nicole P Lindsey, Jennifer A Lehman, Jonathan Kolsin, Kimberly Landry, Ingrid B Rabe, Susan L Hills, Marc Fischer, J Erin Staples, Carolyn V Gould, Stacey W Martin
Zika virus is a flavivirus primarily transmitted to humans by Aedes aegypti mosquitoes (1). Zika virus infections also have been documented through intrauterine transmission resulting in congenital infection; intrapartum transmission from a viremic mother to her newborn; sexual transmission; blood transfusion; and laboratory exposure (1-3). Most Zika virus infections are asymptomatic or result in mild clinical illness, characterized by acute onset of fever, maculopapular rash, arthralgia, or nonpurulent conjunctivitis; Guillain-Barré syndrome, meningoencephalitis, and severe thrombocytopenia rarely have been associated with Zika virus infection (1)...
March 9, 2018: MMWR. Morbidity and Mortality Weekly Report
Muneeb A Faiq, Ashutosh Kumar, Himanshu N Singh, Vikas Pareek, Pavan Kumar
No abstract text is available yet for this article.
2018: Frontiers in Microbiology
Paola Mariela Saba Villarroel, Elif Nurtop, Boris Pastorino, Yelin Roca, Jan Felix Drexler, Pierre Gallian, Thomas Jaenisch, Isabelle Leparc-Goffart, Stéphane Priet, Laetitia Ninove, Xavier de Lamballerie
BACKGROUND: Zika virus (ZIKV), was widely reported in Latin America and has been associated with neuropathologies, as microcephaly, but only few seroprevalence studies have been published to date. Our objective was to determine the seroprevalence amongst Bolivian blood donors and estimate the future potential circulation of the virus. METHODOLOGY: A ZIKV seroprevalence study was conducted between December 2016 and April 2017 in 814 asymptomatic Bolivian volunteer blood donors residing in various eco-environments corresponding to contrasting entomological activities...
March 7, 2018: PLoS Neglected Tropical Diseases
Nischay Mishra, Adrian Caciula, Adam Price, Riddhi Thakkar, James Ng, Lokendra V Chauhan, Komal Jain, Xiaoyu Che, Diego A Espinosa, Magelda Montoya Cruz, Angel Balmaseda, Eric H Sullivan, Jigar J Patel, Richard G Jarman, Jennifer L Rakeman, Christina T Egan, Chantal B E M Reusken, Marion P G Koopmans, Eva Harris, Rafal Tokarz, Thomas Briese, W Ian Lipkin
Zika virus (ZIKV) is implicated in fetal stillbirth, microcephaly, intracranial calcifications, and ocular anomalies following vertical transmission from infected mothers. In adults, infection may trigger autoimmune inflammatory polyneuropathy. Transmission most commonly follows the bite of infected Aedes mosquitoes but may also occur through sexual intercourse or receipt of blood products. Definitive diagnosis through detection of viral RNA is possible in serum or plasma within 10 days of disease onset, in whole blood within 3 weeks of onset, and in semen for up to 3 months...
March 6, 2018: MBio
Carla Cristina Judice, Jeslin J L Tan, Pierina Lorencini Parise, Yiu-Wing Kam, Guilherme Paier Milanez, Juliana Almeida Leite, Leonardo Cardia Caserta, Clarice Weis Arns, Mariangela Ribeiro Resende, Rodrigo Angerami, Eliana Amaral, Renato Passini Junior, André Ricardo Ribas Freitas, Fabio Trindade Maranhão Costa, Jose Luiz Proenca-Modena, Lisa F P Ng
Infection with Zika virus (ZIKV), a mosquito-borne flavivirus has been casually linked with increased congenital microcephaly in Brazil from 2015 through 2016. Sensitive and specific diagnosis of patients with Zika fever (ZIKF) remains critical for patient management. We developed a ZIKV NS5 qRT-PCR assay by combining primers described by Balm et al. and a new Taqman probe. The assay was evaluated and compared with another assay described by Lanciotti et al. (ZIKV 1107) using 51 blood and 42 urine samples from 54 suspected ZIKV patients...
March 5, 2018: Scientific Reports
María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and molecular characterization of a cohort of RSTS patients carrying EP300 mutations. METHODS: Patients were selected from a cohort of 72 individuals suspected of RSTS after being negative in CREBBP study...
March 5, 2018: BMC Medical Genetics
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