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Microcephaly

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Using our mini-brains: cerebral organoids as an improved cellular model for human prion disease.

Bradley R Groveman, Ryan Walters, Cathryn L Haigh,

Neural Regen Res (Neural regeneration research)
[2020, 15(6):1019-1020]

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Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion.

Alessandra Pelle, Piergiorgio Modena, Anna Cavallini, Angelo Selicorni,

Deletion of the 1q43q44 chromosomal region has been related to a clinical syndrome characterized by neurodevelopmental delay, intellectual disability, microcephaly, congenital abnormality of the corpus callosum, and epilepsy and dysmorphic features. A wide variability of the clinical features have been linked to the contiguous deleted genes and incomplete penetrance has ... Read more >>

Clin. Dysmorphol. (Clinical dysmorphology)
[2020, 29(2):97-100]

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Another piece on the Zika puzzle: assessing the associated factors to microcephaly in a systematic review and meta-analysis.

Maria Author), Luciana Author), Jorge Martinez-Cajas, Henry Peixoto, Ana Pereira, Jillian Carter, Sandra McKeown, Bruno Shaub, Camila Ventura, Giovanny França, Leo Pomar, Liana Ventura, Vivek Nerurkar, Wildo Araújo,

<title>Abstract</title> <p> Background: Although it is known that Zika virus (ZIKV) infection during pregnancy may lead to microcephaly in the foetus, the risk factors associated to this tragic disorder remain unclear. We conducted a systematic review and meta-analysis toto assess risk factors associated with the incidence of microcephaly ... Read more >>

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Vaccination with Aedes aegypti AgBR1 Delays Lethal Mosquito-Borne Zika Virus Infection in Mice.

Yuchen Wang, Alejandro Marin-Lopez, Junjun Jiang, Michel Ledizet, Erol Fikrig,

Zika Virus (ZIKV) is transmitted primarily by Aedes aegypti mosquitoes, resulting in asymptomatic infection, or acute illness with a fever and headache, or neurological complications, such as Guillain-Barre syndrome or fetal microcephaly. Previously, we determined that AgBR1, a mosquito salivary protein, induces inflammatory responses at the bite site, and that ... Read more >>

Vaccines (Basel) (Vaccines)
[2020, 8(2):]

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Experience in diagnosing congenital Zika syndrome in Brazilian children born to asymptomatic mothers.

Renata Artimos de Oliveira Vianna, Erica Conti Rua, Alexandre Ribeiro Fernandes, Teresa Cristina Sarmet Dos Santos, Luis Antonio Bataglin Dalcastel, Maria Luiza Bernardes Dos Santos, Patrícia da Silva de Paula, Fabiana Rabe de Carvalho, Armanda de Oliveira Pache de Faria, Paulo Leandro Almeida, Lais de Freitas Sales, Lee Woodland Riley, Solange Artimos de Oliveira, Claudete Aparecida Araújo Cardoso,

INTRODUCTION:Typical symptoms of primary Zika virus infection are not specific and share similarities with other arbovirus infections such as dengue fever and chikungunya. As acute infection can be asymptomatic in up to 73% of cases, infants with microcephaly represent a diagnostic challenge for pediatricians. We describe the frequency of congenital Zika ... Read more >>

Acta Trop. (Acta tropica)
[2020, 206:105438]

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Human RAD50 deficiency: Confirmation of a distinctive phenotype.

Aviël Ragamin, Gökhan Yigit, Kristine Bousset, Filippo Beleggia, Frans W Verheijen, Marie-Claire Y de Wit, Tim M Strom, Thilo Dörk, Bernd Wollnik, Grazia M S Mancini,

DNA double-strand breaks (DSBs) are highly toxic DNA lesions that can lead to chromosomal instability, loss of genes and cancer. The MRE11/RAD50/NBN (MRN) complex is keystone involved in signaling processes inducing the repair of DSB by, for example, in activating pathways leading to homologous recombination repair and nonhomologous end joining. ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Prevalence of Zika virus neutralizing antibodies in healthy adults in Vietnam during and after the Zika virus epidemic season: a longitudinal population-based survey

Meng Moi, Co Nguyen, Thi Le, Thi Nguyen, Thi Vu, Hai Nguyen, Thi Pham, Thi Le, Le Nguyen, Minh Ly, Chris Ng, Taichiro Takemura, Kouichi Morita, Futoshi Hasebe,

<title>Abstract</title> <p> Background : Between 2016 and 2019, 265 cases of Zika virus (ZIKV) infection were reported in Vietnam, predominantly in southern Vietnam. In 2016, a case of ZIKV-associated microcephaly was confirmed in the Central Highlands, and several members of the infant’s family were confirmed to be infected ... Read more >>

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Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.

Tiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, Rivka Sukenik Halevy, Liam P Keegan, Ingo Helbig, Lina Basel-Salmon, Lior Cohen, Rachel Straussberg, Wendy K Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B Howell, Susan M White, John Christodoulou, Mary A O'Connell,

The RNA editing enzyme ADAR2 is essential for the recoding of brain transcripts. Impaired ADAR2 editing leads to early-onset epilepsy and premature death in a mouse model. Here, we report bi-allelic variants in ADARB1, the gene encoding ADAR2, in four unrelated individuals with microcephaly, intellectual disability, and epilepsy. In one ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2020, :]

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MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.

María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, María de Los Ángeles Gómez-Cano, Ana Martínez de Aragón, Elena Martín-Hernández, Francisco Martínez-Azorín,

We report the case of a Caucasian Spanish origin female who showed severe psychomotor developmental delay, hypotonia, strabismus, epilepsy, short stature, and poor verbal language development. Brain magnetic resonance imaging scans showed thickened corpus callosum, cortical malformations, and dilated and abnormal configuration of the lateral ventricles without hydrocephalus. Whole-exome sequence ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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We shouldn’t worry when a virus mutates during disease outbreaks.

Nathan D. Grubaugh, Mary E. Petrone, Edward C. Holmes,

Mutation. The word naturally conjures fears of unexpected and freakish changes. Ill-informed discussions of mutations thrive during virus outbreaks, including the ongoing spread of SARS-CoV-2. In reality, mutations are a natural part of the virus life cycle and rarely impact outbreaks dramatically. ... Read more >>

Nat Microbiol (Nature microbiology)
[0, :1-2]

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Cryptorchidism in Children with Zika-Related Microcephaly.

Rômulo A L de Vasconcelos, Ricardo A A Ximenes, Adriano A Calado, Celina M T Martelli, Andreia V Gonçalves, Elizabeth B Brickley, Thalia V B de Araújo, Maria Angela Wanderley Rocha, Demócrito de B Miranda-Filho,

The genitourinary tract was recently identified as a potential site of complications related to the congenital Zika syndrome (CZS). We provide the first report of a series of cryptorchidism cases in 3-year-old children with Zika-related microcephaly who underwent consultations between October 2018 and April 2019 as part of the follow-up ... Read more >>

Am. J. Trop. Med. Hyg. (The American journal of tropical medicine and hygiene)
[2020, :]

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Neurological outcomes of congenital Zika syndrome in toddlers and preschoolers: a case series.

Heloisa Viscaino Fernandes Souza Pereira, Stella Pinto Dos Santos, Ana Paula Rodrigues Lazzari Amâncio, Patricia Soares de Oliveira-Szejnfeld, Edneusa Oliveira Flor, Jousilene de Sales Tavares, Rayssa Vieira Brandão Ferreira, Fernanda Tovar-Moll, Melania Maria Ramos de Amorim, Adriana Melo,

BACKGROUND:Congenital Zika syndrome causes a spectrum of neurological symptoms with varying effects on function that require different therapeutic strategies. To date, this spectrum of effects and its clinical implications have not been completely described. We describe the neurological examination findings in toddlers and preschoolers, including predominant symptom complexes and comorbidities. ... Read more >>

Lancet Child Adolesc Health (The Lancet. Child & adolescent health)
[2020, :]

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MATERNAL ZIKA VIRUS (ZIKV) INFECTION FOLLOWING VAGINAL INOCULATION WITH ZIKV-INFECTED SEMEN IN THE TIMED-PREGNANT OLIVE BABOON.

Sunam Gurung, Hugh Nadeau, Marta Maxted, Jamie Peregrine, Darlene Reuter, Abby Norris, Rodney Edwards, Kimberly Hyatt, Krista Singleton, James F Papin, Dean A Myers,

Zika virus (ZIKV) infection is now firmly linked to congenital Zika Syndrome (CZS), including fetal microcephaly. While Aedes sp. of mosquito are the primary vector for ZIKV, sexual transmission of ZIKV is a significant route of infection. ZIKV has been documented in human, mouse and non-human primate (NHP) semen. It ... Read more >>

J. Virol. (Journal of virology)
[2020, :]

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LIG4 Syndrome: Clinical and Molecular Characterization in a Chinese Cohort

Jinqiao Sun, Bijun Sun, Qiuyu Chen, Ying Wang, Danru Liu, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Xiaochuan Wang,

<title>Abstract</title> <p> <bold>Background:</bold> DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to date. Patients suffer from a broad spectrum of clinical features, including microcephaly, growth retardation, developmental delay, dysmorphic facial features, combined immunodeficiency, and malignancy predisposition. There is thought to be a potential association ... Read more >>

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PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus.

Qi Yang, Rong Hua, Jiale Qian, Shang Yi, Fei Shen, Qiang Zhang, Mengting Li, Sheng Yi, Jingsi Luo, Xin Fan,

Prolyl endopeptidase-like (PREPL) deficiency (MIM 616224) is a very rare congenital disorder characterized by neonatal hypotonia and feeding difficulties, ptosis, neuromuscular symptoms, cognitive impairments, growth hormone deficiency, short stature, and hypergonadotropic hypogonadism. This syndrome is an autosomal recessive disease resulting from mutations in the PREPL gene. Previous reports have associated ... Read more >>

Front Genet (Frontiers in Genetics)
[2020, 11:]

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Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome.

Shuiyan Wu, Ying Liu, Qian Zhang, Xiangying Meng, Linlin Huang, Zhong Xu, Chunxu Zhang, Ying Li, Ting Chen, Zhenjiang Bai,

BACKGROUND:Cockayne syndrome (CS) is a rare autosomal recessive disorder which displays multiorgan dysfunction, especially within the nervous system including psychomotor retardation, cerebral atrophy, microcephaly, cognitive dysfunction, mental retardation, and seizures. Many genetic variations reported were related to this syndrome, but splicing mutations with cardiac anomalies have not been found in ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2020, :e1204]

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Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting.

Rita Barone, Mariangela Gulisano, Renata Amore, Carla Domini, Maria Chiara Milana, Sabrina Giglio, Francesca Madia, Teresa Mattina, Antonino Casabona, Marco Fichera, Renata Rizzo,

Autism spectrum disorder (ASD) is associated with various molecular mechanisms including copy number variants (CNVs). We investigated possible associations between CNVs and ASD clinical correlates. We evaluated pertinent physical characteristics and phenotypic measures such as cognitive level, severity of ASD symptoms and comorbid conditions in ASD patients consecutively recruited over ... Read more >>

Int. J. Dev. Neurosci. (International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience)
[2020, :]

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The Neuropathology of MIRAGE Syndrome.

Angela N Viaene, Brian N Harding,

MIRAGE syndrome is a multisystem disorder characterized by myelodysplasia, infections, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Mutations in the sterile alpha motif domain containing 9 (SAMD9) gene which encodes a protein involved in growth factor signal transduction are thought to cause MIRAGE syndrome. SAMD9 mutations lead to ... Read more >>

J. Neuropathol. Exp. Neurol. (Journal of neuropathology and experimental neurology)
[2020, 79(4):458-462]

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Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.

Muhammad Ansar, Frédéric Ebstein, Hayriye Özkoç, Sohail A Paracha, Justyna Iwaszkiewicz, Matthias Gesemann, Vincent Zoete, Emmanuelle Ranza, Federico A Santoni, Muhammad T Sarwar, Jawad Ahmed, Elke Krüger, Ruxandra Bachmann-Gagescu, Stylianos E Antonarakis,

The molecular cause of the majority of rare autosomal recessive disorders remains unknown. Consanguinity due to extensive homozygosity unravels many recessive phenotypes and facilitates the detection of novel gene-disease links. Here, we report two siblings with phenotypic signs including intellectual disability, developmental delay, and microcephaly from a Pakistani consanguineous family ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2020, :]

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High risk of epilepsy in children with Zika-related microcephaly.

Heather Wood,

Nat Rev Neurol (Nature reviews. Neurology)
[2020, :]

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Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome.

Pankhuri Kaushik, Naresh Mahajan, Satish C Girimaji, Arun Kumar,

Cohen syndrome (CS) is an autosomal recessive congenital disorder, characterized by hypotonia, intellectual disability, developmental delay, microcephaly, progressive retinopathy, neutropenia, truncal obesity, joint laxity, characteristic facial, ophthalmic, oral and appendage abnormalities, and an over friendly behavior. It has been linked to mutations in the VPS13B gene. The main purpose of ... Read more >>

J. Mol. Neurosci. (Journal of molecular neuroscience : MN)
[2020, :]

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The Yin and Yang of Autosomal Recessive Primary Microcephaly Genes: Insights from Neurogenesis and Carcinogenesis.

Xiaokun Zhou, Yiqiang Zhi, Jurui Yu, Dan Xu,

The stem cells of neurogenesis and carcinogenesis share many properties, including proliferative rate, an extensive replicative potential, the potential to generate different cell types of a given tissue, and an ability to independently migrate to a damaged area. This is also evidenced by the common molecular principles regulating key processes ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(5):]

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Two different prenatal imaging cerebral patterns of tubulinopathies.

S Cabet, K Karl, C Garel, M Delius, J Hartung, G Lesca, R Chaoui, L Guibaud,

To illustrate the prenatal imaging cerebral features associated with tubulinopathies, we report the data of five affected individuals from unrelated families with de novo heterozygous variants in tubulin genes (TUBA1A, TUBB2B, or TUBB3). We identified two distinct prenatal imaging patterns related to tubulinopathies: a severe form, characterized by voluminous germinal ... Read more >>

Ultrasound Obstet Gynecol (Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology)
[2020, :]

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New insights in cerebral findings associated with fetal myelomeningocele: a retrospective cohort study in a single tertiary centre.

P Maurice, J Garel, C Garel, F Dhombres, S Friszer, L Guilbaud, E Maisonneuve, H Ducou Le Pointe, E Blondiaux, J-M Jouannic,

OBJECTIVE:To investigate cerebral anomalies other than Chiari type 2 malformation in fetuses with myelomeningocele (MMC). DESIGN:A retrospective cohort study in a single tertiary centre. SETTING:A review of associated cerebral anomalies in cases with prenatal diagnosis of myelomeningocele. POPULATION:Seventy cases of fetal myelomeningocele. METHODS:Ultrasound and MRI images were blindly reviewed. Postnatal ... Read more >>

BJOG (BJOG : an international journal of obstetrics and gynaecology)
[2020, :]

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Ocular manifestations in Congenital Zika syndrome: About a case of torpedo maculopathy.

Charles Mesnard, Reda Benzekri, Maxime Chassery, Eric Ventura, Harold Merle,

Purpose:To describe pertinent imaging studies and clinical features of a torpedo maculopathy presumably associated with congenital Zika syndrome. Observation:A 23-month-old child, with no prematurity or microcephaly at birth, was examined in the Ophthalmology department of the University Hospital of Fort-de-France (Martinique, French West Indies), as part of a systematic screening ... Read more >>

Am J Ophthalmol Case Rep (American journal of ophthalmology case reports)
[2020, 18:100626]

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