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Microcephaly

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Web-based searching for abortion information during health emergencies: a case study of Brazil during the 2015/2016 Zika outbreak.

Tiziana Leone, Ernestina Coast, Sonia Correa, Clare Wenham,

Sexual and reproductive health needs and access are often neglected during health emergencies. The 2015/2016 Zika epidemic is an example of priorities shifting to the detriment of women's health needs. The internet is a key tool for abortion knowledge sharing and seeking in countries where abortion is not legally available ... Read more >>

Sex Reprod Health Matters (Sexual and reproductive health matters)
[2021, 29(1):1883804]

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Stochastic gene expression and chromosome interactions in protecting the human active X from silencing by XIST.

Barbara R Migeon,

Mammals use X chromosome inactivation to compensate for the sex difference in numbers of X chromosomes. A relatively unexplored question is how the active X is protected from inactivation by its own XIST gene, the long non-coding RNA, which initiates silence of the inactive X.  Previous studies of autosomal duplications ... Read more >>

Nucleus (Nucleus (Austin, Tex.))
[2021, 12(1):1-5]

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Systemic inflammation, innate immunity and pathogenesis after Zika virus infection in cynomolgus macaques are modulated by strain-specificity within the Asian lineage.

Ruklanthi de Alwis, Raphaël M Zellweger, Edmond Chua, Lin-Fa Wang, Tanu Chawla, October M Sessions, Damien Marlier, John E Connolly, Veronika von Messling, Danielle E Anderson,

Zika virus (ZIKV) is an emerging arbovirus with recent global expansion. Historically, ZIKV infections with Asian lineages have been associated with mild disease such as rash and fever. However, recent Asian sub-lineages have caused outbreaks in the South Pacific and Latin America with increased prevalence of neurological disorders in infants ... Read more >>

Emerg Microbes Infect (Emerging microbes & infections)
[2021, 10(1):1457-1470]

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An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.

Jacob P Miller, Hans J Moldenhauer, Sotirios Keros, Andrea L Meredith,

<i>KCNMA1</i>-linked channelopathy is an emerging neurological disorder characterized by heterogeneous and overlapping combinations of movement disorder, seizure, developmental delay, and intellectual disability. <i>KCNMA1</i> encodes the BK K<sup>+</sup> channel, which contributes to both excitatory and inhibitory neuronal and muscle activity. Understanding the basis of the disorder is an important area of ... Read more >>

Channels (Austin) (Channels (Austin, Tex.))
[2021, 15(1):447-464]

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Microcephaly in Australian infants: A retrospective audit.

Carlos Nunez, Anne Morris, Michele Hansen, Elizabeth J Elliott,

<h4>Aim</h4>To describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life.<h4>Methods</h4>Retrospective review of medical records of microcephalic children born between 2008 and 2018 and admitted for any reason during the same period to a tertiary paediatric hospital. Microcephaly was defined ... Read more >>

J Paediatr Child Health (Journal of paediatrics and child health)
[2021, :]

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Profile Matching of Brazilian Birth and Mortality Records where microcephaly is recorded.

Antony Stevens, Roberta Maria Leite Costa, Dacio de Lyra Rabello Neto,

Int J Popul Data Sci (International journal of population data science)
[0, 1(1):]

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Heterogeneous development of children with Congenital Zika Syndrome-associated microcephaly.

Juan P Aguilar Ticona, Nivison Nery, Simon Doss-Gollin, Claudia Gambrah, Millani Lessa, Valmir Rastely-Júnior, Adriana Matos, Bruno de Paula Freitas, Ana Borja, Elsio A Wunder, Verena Ballalai, Carina Vieira, Jaqueline S Cruz, Daiana de Oliveira, Danielle Bastos Araujo, Danielle B Oliveira, Denicar Lina Nascimento Fabris Maeda, Erica A Mendes, Camila Pereira Soares, Edison L Durigon, Luis Carlos de Souza Ferreira, Rubens Belfort, Antonio R P Almeida, Jamary Oliveira-Filho, Mitermayer G Reis, Albert I Ko, Federico Costa,

<h4>Objective</h4>To describe the neurological and neurodevelopmental outcomes of children with Congenital Zika Syndrome (CZS) associated microcephaly beyond 2 years of age.<h4>Method</h4>We followed children with CZS-associated microcephaly in an outpatient clinic in Salvador, Brazil. Neurological and neurodevelopmental assessments were performed using the Hammersmith Infant Neurological Examination (HINE) and Bayley Scales of ... Read more >>

PLoS One (PloS one)
[2021, 16(9):e0256444]

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15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.

Yahya Benbouchta, Nicole De Leeuw, Saadia Amasdl, Aziza Sbiti, Dominique Smeets, Khalid Sadki, Abdelaziz Sefiani,

<h4>Background</h4>15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, developmental delay, microcephaly, intellectual disability and various congenital malformations.<h4>Case presentation</h4>We report on a girl, 4 years old, of consanguineous ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2021, 47(1):188]

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Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies In A Consanguineous Iranian Family Is Associated With A Novel Homozygous Start Loss Variant In The PRUNE1 Gene

Mehdi Agha Gholizadeh, Mina Mohammadi-Sarband, Fatemeh Fardanesh, Masoud Garshasbi,

<h4>Background: </h4> Homozygous or compound heterozygous PRUNE1 mutations cause a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain malformations (NMIHBA) (OMIM #617481). The PRUNE1 gene encodes a member of the phosphoesterase (DHH) protein superfamily that is involved in the regulation of cell migration. To date, most of the described mutations ... Read more >>

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Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family.

Thinh Huy Tran, Quang Minh Diep, My Ha Cao, Long Hoang Luong, Van Anh Pham, Oanh Thi Lan Dinh, The-Hung Bui, Thanh Van Ta, Van Khanh Tran,

<h4>Objective</h4>MCPH (microcephaly primary hereditary) is a group of autosomal recessive developmental disorders with microcephaly present at birth and intellectual disability. Since a second trimester ultrasound is not able to detect subtypes with minimal prenatal presentations, only prenatal diagnosis by genetic testing can confirm these cases and allow for effective genetic ... Read more >>

Taiwan J Obstet Gynecol (Taiwanese journal of obstetrics & gynecology)
[2021, 60(5):907-910]

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Sleep in children with microcephaly due to Zika virus infection: a systematic review.

Emanuele Mariano de Souza Santos, Monique Carla da Silva Reis, Antonio Lucas Ferreira Feitosa, Andréa Monteiro Correia Medeiros,

<h4>Objective</h4>To review the literature on sleep changes and brain function in children with microcephaly due to Zika virus.<h4>Method</h4>Systematic review conducted in the databases MEDLINE (PubMed), Scopus, Web of Science, CINAHL, EMBASE, LILACS, and SciELO and the grey databases Google Scholar and OpenGrey.<h4>Results</h4>Ten Brazilian primary studies with observational research design were ... Read more >>

Rev Esc Enferm USP (Revista da Escola de Enfermagem da U S P)
[2021, 55:e20200507]

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Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features.

Xiaoting Lou, Xiyue Zhou, Haiyan Li, Xiangpeng Lu, Xinzhu Bao, Kaiqiang Yang, Xin Liao, Hanxiao Chen, Hezhi Fang, Yanling Yang, Jianxin Lyu, Hong Zheng,

<h4>Objective</h4>We proposed that the deficit of ACC1 is the cause of patient symptoms including global developmental delay, microcephaly, hypotonia, and dysmorphic facial features. We evaluated the possible disease-causing role of the <i>ACACA</i> gene in developmental delay and investigated the pathogenesis of ACC1 deficiency.<h4>Methods</h4>A patient who presented with global developmental delay ... Read more >>

Front Cell Dev Biol (Frontiers in cell and developmental biology)
[2021, 9:618492]

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Brain Organoids: Studying Human Brain Development and Diseases in a Dish.

Jie Xu, Zhexing Wen,

With the rapid development of stem cell technology, the advent of three-dimensional (3D) cultured brain organoids has opened a new avenue for studying human neurodevelopment and neurological disorders. Brain organoids are stem-cell-derived 3D suspension cultures that self-assemble into an organized structure with cell types and cytoarchitectures recapitulating the developing brain. ... Read more >>

Stem Cells Int (Stem cells international)
[2021, 2021:5902824]

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Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.

Suzanne Chartier, Lucile Boutaud, Edouard Le Guillou, Caroline Alby, Clarisse Billon, Anne-Elodie Millischer, Catherine Caillaud, Louise Galmiche, Charlotte Mechler, Pascale Sonigo, Nathalie Boddaert, Stanislas Lyonnet, Sophie Rondeau, Christine Bole-Feysot, Cécile Masson, Yves Ville, Philippe Roth, Isabelle Desguerre, Férechté Encha-Razavi, Tania Attie-Bitach,

<h4>Background</h4>Neuronal ceroid lipofuscinoses (NCLs) form a clinically and genetically heterogeneous group of inherited neurodegenerative disorders that share common neuropathological features. Although they are the first cause of neurodegenerative disorders in children, their congenital forms are rarely documented. They are classically due to mutations in the CTSD gene (the CLN10 disease). ... Read more >>

Birth Defects Res (Birth defects research)
[2021, :]

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A Mathematical Model to Predict Human Microcephaly.

Cagri Damar, Ilkay Dogan,

<h4>Background</h4>Microcephaly (MiC) is defined as head circumference (HC) dimensions smaller than the normal standards.<h4>Objective</h4>To detect MiC with a mathematical formula.<h4>Materials and methods</h4>The 0 to 5 years head HC percentile data for girls and boys reported by the World Health Organization were used. To assess early childhood, these growth standards are available ... Read more >>

J Craniofac Surg (The Journal of craniofacial surgery)
[2021, 32(6):2223-2225]

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[Evaluation of implementation of the response to the public health emergency of microcephaly in Pernambuco State, Brazil].

Lucilene Rafael Aguiar, Paulo Germano de Frias, Louisiana Regadas de Macedo Quinino, Democrito de Barros Miranda-Filho,

This study aimed to assess the degree of implementation of the response to the emergency of microcephaly associated with Zika virus in Pernambuco State, Brazil. This was a normative evaluative study conducted in the initial epicenter of the public health emergency of international concern, from October 2015 to July 2017. ... Read more >>

Cad Saude Publica (Cadernos de saude publica)
[2021, 37(8):e00271020]

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Congenital Zika Infection and the Risk of Neurodevelopmental, Neurological, and Urinary Track Disorders in Early Childhood. A Systematic Review.

Evangelia Antoniou, Eirini Orovou, Paraskevi Eva Andronikidi, Christos Orovas, Nikolaos Rigas, Ermioni Palaska, Angeliki Sarella, Georgios Iatrakis, Chrysa Voyiatzaki,

It was late 2015 when Northeast Brazil noticed a worrying increase in neonates born with microcephaly and other congenital malformations. These abnormalities, characterized by an abnormally small head and often neurological impairment and later termed Congenital Zika Syndrome, describe the severity of neurodevelopmental and nephrological outcomes in early childhood, and ... Read more >>

Viruses (Viruses)
[2021, 13(8):]

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Time to Evaluate the Clinical Repercussions of Zika Virus Vertical Transmission? A Systematic Review.

Yasmin Notarbartolo di Villarosa do Amaral, Jocieli Malacarne, Paloma Glauca Brandão, Patrícia Brasil, Karin Nielsen-Saines, Maria Elisabeth Lopes Moreira,

<b>Background:</b> Vertical transmission of Zika Virus (ZIKV) can be associated with several clinical features in newborn infants. The goal of the present review was to analyze the current state of knowledge regarding clinical repercussions following perinatal exposure to ZIKV in children up to 3 years of age. <b>Methods:</b> A systematic ... Read more >>

Front Psychiatry (Frontiers in psychiatry)
[2021, 12:699115]

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A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.

Weiqing Zhao, Xiao Hu, Ye Liu, Xike Wang, Yun Chen, Yangyang Wang, Hao Zhou,

Bohring-Opitz syndrome (BOS) is a rare genetic disease first reported by Bohring et al. in 1999. With the recent development of exome sequencing (ES), <i>de novo</i> truncating mutations in the additional sex-combs-like 1 (<i>ASXL1</i>) gene have been causally implicated in BOS. Herein, we describe a 7-month-old girl with intrauterine growth ... Read more >>

Front Pediatr (Frontiers in pediatrics)
[2021, 9:678615]

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Modeling PTEN overexpression-induced microcephaly in human brain organoids.

Navroop Dhaliwal, Wendy W Y Choi, Julien Muffat, Yun Li,

The phosphatase and tensin homolog (PTEN) protein, encoded by the PTEN gene on chromosome 10, is a negative regulator of the phosphoinositide 3-kinase (PI3K) signaling pathway. Loss of PTEN has been linked to an array of human diseases, including neurodevelopmental disorders such as macrocephaly and autism. However, it remains unknown ... Read more >>

Mol Brain (Molecular brain)
[2021, 14(1):131]

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The Chromatin Remodeling Protein CHD-1 and the EFL-1/DPL-1 Transcription Factor Cooperatively Down Regulate CDK-2 to Control SAS-6 Levels and Centriole Number

Jyoti Iyer, Lindsey Gentry, Mary Bergwell, Amy Smith, Sarah Guargliardo, Peter Kropp, Prabhu Sankaralingam, Yan Liu, Eric Spooner, Bruce Bowerman, Kevin O’Connell,

Centrioles are submicron-scale, barrel-shaped organelles typically found in pairs, and play important roles in ciliogenesis and bipolar spindle assembly. In general, successful execution of centriole-dependent processes is highly reliant on the ability of the cell to stringently control centriole number. This in turn is mainly achieved through the precise duplication ... Read more >>

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Reciprocal differentiation via GABAergic components and ASD-related phenotypes in hES with 1q21.1 CNV

Yoshiko Nomura, Jun Nomura, Toru Nishikawa, Toru Takumi,

Copy number variations (CNVs) in the distal 1q21.1 region, both deletion (1q del) and duplication (1q dup), are associated with autism spectrum disorder, epilepsy and schizophrenia. Besides common phenotypes, 1q del and 1q dup manifest opposite clinical phenotypes—e.g., microcephaly in 1q del and macrocephaly in 1q dup. However, molecular and ... Read more >>

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Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.

Arman Zhao, Rui Zhou, Qin Gu, Min Liu, Bingbing Zhang, Jing Huang, Bin Yang, Ruen Yao, Jian Wang, Haitao Lv, Jian Wang, Yiping Shen, Hongying Wang, Xuqin Chen,

<h4>Background</h4>Neurodevelopmental disorder with absent language and variable seizures (NEDALVS, OMIM # 618707) is a newly described autosomal dominant condition caused by heterozygous de novo mutation in WASF1 gene. WASF1 is a key component of the WAVE regulatory complex (WRC) required for actin polymerization. So far, only 3 distinct truncating variants ... Read more >>

Clin Chim Acta (Clinica chimica acta; international journal of clinical chemistry)
[2021, 523:10-18]

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Causes of Microcephaly in the Zika Era in Argentina: A Retrospective Study.

Griselda Berberian, Rosa Bologna, María Guadalupe Pérez, Andrea Mangano, Marina Costa, Silvana Calligaris, María Alejandra Morales, Carlos Rugilo, Elisa Ruiz-Burga, Claire Thorne,

There are gaps in understanding the causes and consequences of microcephaly. This paper describes the epidemiological characteristics, clinical presentations, and etiologies of children presenting microcephaly during the Zika outbreak in Argentina. This observational retrospective study conducted in the pediatric hospital of Juan P. Garrahan reviewed the medical records of 40 ... Read more >>

Glob Pediatr Health (Global pediatric health)
[2021, 8:2333794X211040968]

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Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.

Nicole J Van Bergen, Katrina M Bell, Kirsty Carey, Russell Gear, Sean Massey, Edward K Murrell, Lyndon Gallacher, Kate Pope, Paul J Lockhart, Andrew Kornberg, Lynn Pais, Marzena Walkiewicz, Cas Simons, , Vihandha O Wickramasinghe, Susan M White, John Christodoulou,

The nuclear pore complex (NPC) is a multi-protein complex that regulates the trafficking of macromolecules between the nucleus and cytoplasm. Genetic variants in components of the NPC have been shown to cause a range of neurological disorders, including intellectual disability and microcephaly. Translocated promoter region, nuclear basket protein (TPR) is ... Read more >>

Hum Mol Genet (Human molecular genetics)
[2021, :]

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