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https://www.readbyqxmd.com/read/28549057/both-antenatal-and-postnatal-inflammation-contribute-information-about-the-risk-of-brain-damage-in-extremely-preterm-newborns
#1
Diana Yanni, Steven Korzeniewski, Elizabeth N Allred, Raina N Fichorova, T Michael O'Shea, Karl Kuban, Olaf Dammann, Alan Leviton
BACKGROUNDPreterm newborns exposed to intrauterine inflammation are at increased risk of neurodevelopmental disorders. We hypothesized that adverse outcomes are more strongly associated with a combination of antenatal and postnatal inflammation than with either of them alone.METHODSWe defined antenatal inflammation as histologic inflammation in the placenta. We measured the concentrations of seven inflammation-related proteins in blood obtained on postnatal days 1, 7, and 14 from 763 infants born before 28 weeks of gestation...
May 26, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28538727/establishment-and-cryptic-transmission-of-zika-virus-in-brazil-and-the-americas
#2
N R Faria, J Quick, I M Claro, J Thézé, J G de Jesus, M Giovanetti, M U G Kraemer, S C Hill, A Black, A C da Costa, L C Franco, S P Silva, C-H Wu, J Raghwani, S Cauchemez, L du Plessis, M P Verotti, W K de Oliveira, E H Carmo, G E Coelho, A C F S Santelli, L C Vinhal, C M Henriques, J T Simpson, M Loose, K G Andersen, N D Grubaugh, S Somasekar, C Y Chiu, J E Muñoz-Medina, C R Gonzalez-Bonilla, C F Arias, L L Lewis-Ximenez, S A Baylis, A O Chieppe, S F Aguiar, C A Fernandes, P S Lemos, B L S Nascimento, H A O Monteiro, I C Siqueira, M G de Queiroz, T R de Souza, J F Bezerra, M R Lemos, G F Pereira, D Loudal, L C Moura, R Dhalia, R F França, T Magalhães, E T Marques, T Jaenisch, G L Wallau, M C de Lima, V Nascimento, E M de Cerqueira, M M de Lima, D L Mascarenhas, J P Moura Neto, A S Levin, T R Tozetto-Mendoza, S N Fonseca, M C Mendes-Correa, F P Milagres, A Segurado, E C Holmes, A Rambaut, T Bedford, M R T Nunes, E C Sabino, L C J Alcantara, N J Loman, O G Pybus
Transmission of Zika virus (ZIKV) in the Americas was first confirmed in May 2015 in northeast Brazil. Brazil has had the highest number of reported ZIKV cases worldwide (more than 200,000 by 24 December 2016) and the most cases associated with microcephaly and other birth defects (2,366 confirmed by 31 December 2016). Since the initial detection of ZIKV in Brazil, more than 45 countries in the Americas have reported local ZIKV transmission, with 24 of these reporting severe ZIKV-associated disease. However, the origin and epidemic history of ZIKV in Brazil and the Americas remain poorly understood, despite the value of this information for interpreting observed trends in reported microcephaly...
May 24, 2017: Nature
https://www.readbyqxmd.com/read/28538069/normocephalic-pancraniosynostosis-a-report-of-a-surgical-technique
#3
Marcin Czerwinski, Sharon Monsivais
Normocephalic pancraniosynostosis is defined as the premature fusion of 3 or, more major sutures in the absence of another primary etiology, including primary, microcephaly, ventriculoperitoneal shunting, hypothyroidism, rickets, mucopolysaccharidoses, or other lysosomal storage diseases. It is very rare, thus far only 6 patients have been reported in the literature. Patients tend to present much later than those with single sutural, synostoses, and up to half have evidence of elevated intracranial pressure...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28536443/diagnostic-accuracy-of-ultrasound-scanning-for-prenatal-microcephaly-in-the-context-of-zika-virus-infection-a-systematic-review-and-meta-analysis
#4
Ezinne C Chibueze, Alex J Q Parsons, Katharina da Silva Lopes, Takemoto Yo, Toshiyuki Swa, Chie Nagata, Nobuyuki Horita, Naho Morisaki, Olukunmi O Balogun, Amarjargal Dagvadorj, Erika Ota, Rintaro Mori, Olufemi T Oladapo
To assess the accuracy of ultrasound measurements of fetal biometric parameters for prenatal diagnosis of microcephaly in the context of Zika virus (ZIKV) infection, we searched bibliographic databases for studies published until March 3rd, 2016. We extracted the numbers of true positives, false positives, true negatives, and false negatives and performed a meta-analysis to estimate group sensitivity and specificity. Predictive values for ZIKV-infected pregnancies were extrapolated from those obtained for pregnancies unrelated to ZIKV...
May 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28534929/teratogens-a-public-health-issue-a-brazilian-overview
#5
Thiago Mazzu-Nascimento, Débora Gusmão Melo, Giorgio Gianini Morbioli, Emanuel Carrilho, Fernanda Sales Luiz Vianna, André Anjos da Silva, Lavinia Schuler-Faccini
Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects - or teratogens - as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects. We also present a survey from 2008 to 2013 of Brazilian cases involving congenital anomalies (annual average of 20,205), fetal deaths (annual average of 1,530), infant hospitalizations (annual average of 82,452), number of deaths of hospitalized infants (annual average of 2,175), and the average cost of hospitalizations (annual cost of $7,758)...
May 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28531943/recent-trends-in-zikv-research-a-step-away-from-cure
#6
REVIEW
Aftab Alam, Nikhat Imam, Anam Farooqui, Shahnawaz Ali, Md Zubbair Malik, Romana Ishrat
Zika virus (ZikV) is a member of the Flaviviridae virus family, genus Flavivirus has emerged as a potential threat to human health worldwide. Consequences of vertical infections includes microcephaly with brain and eye anomalies, and adult infections includes Guillain-Barrésyndrome (GBS), brain ischemia, myelitis and meningoencephalitis. To develop a better treatment, many efforts are being made, like drug-repurposing concept for FDA-approved drugs for antiviral activity are screened against ZikV infection and emerging as a promising alternative to expedite drug development and various vaccines like DNA, ZPIV, LAIV, mRNA and AGS-v vaccines have been designed and in under clinical trial phases...
May 17, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28530022/development-of-a-reverse-transcription-quantitative-polymerase-chain-reaction-based-assay-for-broad-coverage-detection-of-african-and-asian-zika-virus-lineages
#7
Yang Yang, Gary Wong, Baoguo Ye, Shihua Li, Shanqin Li, Haixia Zheng, Qiang Wang, Mifang Liang, George F Gao, Lei Liu, Yingxia Liu, Yuhai Bi
The Zika virus (ZIKV) is an arbovirus that has spread rapidly worldwide within recent times. There is accumulating evidence that associates ZIKV infections with Guillain-Barré Syndrome (GBS) and microcephaly in humans. The ZIKV is genetically diverse and can be separated into Asian and African lineages. A rapid, sensitive, and specific assay is needed for the detection of ZIKV across various pandemic regions. So far, the available primers and probes do not cover the genetic diversity and geographic distribution of all ZIKV strains...
May 19, 2017: Virologica Sinica
https://www.readbyqxmd.com/read/28529976/de-novo-generation-and-characterization-of-new-zika-virus-isolate-using-sequence-data-from-a-microcephaly-case
#8
Yin Xiang Setoh, Natalie A Prow, Nias Peng, Leon E Hugo, Gregor Devine, Jessamine E Hazlewood, Andreas Suhrbier, Alexander A Khromykh
Zika virus (ZIKV) has recently emerged and is the etiological agent of congenital Zika syndrome (CZS), a spectrum of congenital abnormalities arising from neural tissue infections in utero. Herein, we describe the de novo generation of a new ZIKV isolate, ZIKVNatal, using a modified circular polymerase extension reaction protocol and sequence data obtained from a ZIKV-infected fetus with microcephaly. ZIKVNatal thus has no laboratory passage history and is unequivocally associated with CZS. ZIKVNatal could be used to establish a fetal brain infection model in IFNAR(-/-) mice (including intrauterine growth restriction) without causing symptomatic infections in dams...
May 2017: MSphere
https://www.readbyqxmd.com/read/28522665/nonmicrocephalic-infants-with-congenital-zika-syndrome-suspected-only-after-neuroimaging-evaluation-compared-with-those-with-microcephaly-at-birth-and-postnatally-how-large-is-the-zika-virus-iceberg
#9
M F V V Aragao, A C Holanda, A M Brainer-Lima, N C L Petribu, M Castillo, V van der Linden, S C Serpa, A G Tenório, P T C Travassos, M T Cordeiro, C Sarteschi, M M Valenca, A Costello
BACKGROUND AND PURPOSE: Although microcephaly is the most prominent feature of congenital Zika syndrome, a spectrum with less severe cases is starting to be recognized. Our aim was to review neuroimaging of infants to detect cases without microcephaly and compare them with those with microcephaly. MATERIALS AND METHODS: We retrospectively evaluated all neuroimaging (MR imaging/CT) of infants 1 year of age or younger. Patients with congenital Zika syndrome were divided into those with microcephaly at birth, postnatal microcephaly, and without microcephaly...
May 18, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28514307/exome-sequencing-identifies-a-de-novo-mutation-of-ctnnb1-gene-in-a-patient-mainly-presented-with-retinal-detachment-lens-and-vitreous-opacities-microcephaly-and-developmental-delay-case-report-and-literature-review
#10
Niu Li, Yufei Xu, Guoqiang Li, Tingting Yu, Ru-En Yao, Xiumin Wang, Jian Wang
RATIONALE: The CTNNB1 (β-catenin) gene is well known for its crucial role in cell adhesion and the Wnt-signaling pathway. Previous studies have shown that gain-of-function mutations in the CTNNB1 gene contribute to the occurrence and development of a variety of carcinomas in humans. Recently, de novo, heterozygous, loss-of-function mutations of the CTNNB1 gene were found that partially explain intellectual disability in some patients. Other major clinical symptoms in these patients included microcephaly, abnormal facial features, motor delays, speech impairments, and deformities of the hands and feet...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28508613/genetic-mutations-birth-lengths-weights-and-head-circumferences-of-children-with-igf-i-receptor-defects-comparison-with-other-congenital-defects-in-the-gh-igf-i-axis
#11
Jenna Lee Essakow, Aharon Lauterpacht, Pearl Lilos, Rivka Kauli, Zvi Laron
BACKGROUND: In recent years more and more genetic defects along the GHRH-GH-IGF-I axis have been reported. Mutations of the IGF-I receptor (R) are a rare abnormality of whom only the heterozygote progenies survive. OBJECTIVES: To summarize, from the literature, data on birth length, weight and head circumference of neonates with IGF-I-R mutations, and to correlate the data with that of other types of mutations in the GH/IGF-I axis. SUBJECTS: Sixty seven neonates from 24 published articles were included and forty seven different mutations of the IGF-I (R) located on chromosome 15 have been identified...
September 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28508343/cytomegalovirus-infection-in-pregnancy
#12
REVIEW
Karl Oliver Kagan, Klaus Hamprecht
PURPOSE: Due to the severe risk of long-term sequelae, prenatal cytomegalovirus infection is of particular importance amongst intrauterine viral infections. This review summarizes the current knowledge about CMV infection in pregnancy. METHODS: A search of the Medline and Embase database was done for articles about CMV infection in pregnany. We performed a detailed review of the literature in view of diagnosis, epidemiology and management of CMV infection in pregnancy...
May 15, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28507114/antiviral-activity-of-nordihydroguaiaretic-acid-and-its-derivative-tetra-o-methyl-nordihydroguaiaretic-acid-against-west-nile-virus-and-zika-virus
#13
Teresa Merino-Ramos, Nereida Jiménez de Oya, Juan-Carlos Saiz, Miguel A Martín-Acebes
Flaviviruses are positive strand RNA viruses distributed all over the world that infect millions of people every year, and for which no specific antiviral agents have been approved. These viruses include the mosquito-borne West Nile virus (WNV) responsible for outbreaks of meningitis and encephalitis. Considering that nordihydroguaiaretic acid (NDGA) has been previously shown to inhibit the multiplication of the related dengue virus and hepatitis C virus, we have evaluated the effect of NDGA, and its methylated derivative tetra-O-methyl nordihydroguaiaretic (M4N), on the infection of WNV...
May 15, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28504504/-cornelia-de-lange-syndrome-and-multiple-hormonal-deficiency-an-unusual-association-clinical-case
#14
Víctor M Mora-Bautista, Víctor Mendoza-Rojas, Gustavo A Contreras-García
Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28503387/rubinstein-taybi-syndrome-associated-with-pituitary-macroadenoma-a-case-report
#15
Yasamin Olyaei, J Manuel Sarmiento, Serguei I Bannykh, Doniel Drazin, Robert T Naruse, Wesley King
Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RSTS diagnosed at age two was found to have a gadolinium-enhancing pituitary mass on magnetic resonance imaging (MRI) of the brain three years ago during workup for migraine-like headaches...
April 11, 2017: Curēus
https://www.readbyqxmd.com/read/28502333/zika-virus-epidemiology-pathogenesis-and-human-disease
#16
REVIEW
Elizabeth K Nugent, Anne K Nugent, Rebecca Nugent, Kenneth Nugent
The Zika virus is a positive sense, single-stranded RNA arbovirus in the Flaviviridae family, genus Flavivirus. This virus was initially isolated in Africa and is transmitted to nonhuman primates and humans by mosquitoes. Initial reports describe sporadic mild viral infection with fever, arthralgia, myalgia and conjunctivitis in Africa and Asia. However, its geographic distribution has significantly increased, and it has caused large outbreaks in the Yap Islands in 2007, in French Polynesia in 2013 and in Brazil in 2015...
May 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28496994/novel-causative-variants-in-dyrk1a-kars-and-kat6a-associated-with-intellectual-disability-and-additional-phenotypic-features
#17
Clark R Murray, Samantha N Abel, Matthew B McClure, Joseph Foster, Maria I Walke, Parul Jayakar, Guney Bademci, Mustafa Tekin
Patients with unclear patterns of developmental and cognitive delay may go years without a definitive diagnosis despite extensive testing due to overlapping phenotypes of many genetic disorders. In this study, we identified causative variants in DYRK1A, KARS, or KAT6A in four individuals with global developmental delay and various findings including microcephaly and sensorineural hearing loss using whole exome sequencing. We present the cognitive, neurologic, and physical findings of four individuals to expand the clinical knowledge of possible features of the phenotypes of three rare genetic disorders...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28493438/deficient-activity-of-alanyl-trna-synthetase-underlies-an-autosomal-recessive-syndrome-of-progressive-microcephaly-hypomyelination-and-epileptic-encephalopathy
#18
Tojo Nakayama, Jiang Wu, Patricia Galvin-Parton, Jody Weiss, Mary R Andriola, R Sean Hill, Dylan Vaughan, Malak El-Quessny, Brenda J Barry, Jennifer N Partlow, A James Barkovich, Jiqiang Ling, Ganeshwaran H Mochida
Aminoacyl-transfer RNA (tRNA) synthetases ligate amino acids to specific tRNAs and are essential for protein synthesis. Although alanyl-tRNA synthetase (AARS) is a synthetase implicated in a wide range of neurological disorders from Charcot-Marie-Tooth (CMT) disease to infantile epileptic encephalopathy, there have been limited data on their pathogenesis. Here we report loss-of-function mutations in AARS in two siblings with progressive microcephaly with hypomyelination, intractable epilepsy and spasticity...
May 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/28493351/human-zika-and-west-nile-virus-neurological-infections-what-is-the-difference
#19
REVIEW
Clayton A Wiley, Leila Chimelli
The recent epidemic of West Nile Virus (WNV) infection in the United States was associated with severe neurological disease in immunocompromised hosts, while the emergence of Zika virus infection in the Americas has been notable for an association with increased microcephaly in the fetuses of infected mothers. Rare autopsies of WNV infected humans have shown multiple organ involvement with a clear neurotropism. We have recently had the opportunity to examine the distribution of Zika virus in autopsies of newborns from infected pregnancies...
May 11, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28492766/clinical-epidemiological-description-of-live-births-with-microcephaly-in-the-state-of-sergipe-brazil-2015
#20
Cibelle Mendes Cabral, Martha Elizabeth Brasil da Nóbrega, Priscila Leal E Leite, Mércia Simone Feitosa de Souza, Daniela Cabral Pizzi Teixeira, Taíse Ferreira Cavalcante, Raulinna Gomes de Souza Lima, Lúcia Maria Sayde de Azevedo Tavares, Priscila Bochi de Souza, Eduardo Saad
OBJECTIVE: to describe the clinical and epidemiological characteristics of microcephaly cases in live births in Sergipe, Brazil, and to calculate the prevalence in its municipalities. METHODS: this is a descriptive study on live births from September 1st to November 30th, 2015, with data from medical records and interviews with mothers. RESULTS: 83 cases of microcephaly were confirmed, with three deaths; prevalence in the 26 municipalities with confirmed cases ranged from 18 to 185/10,000 live births; the median of head circumference was 31 cm (range: 22...
April 2017: Epidemiologia e Servicos de Saude: Revista do Sistema Unico de Saude do Brasil
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