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Microcephaly

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https://www.readbyqxmd.com/read/28426680/echocardiographic-findings-in-infants-with-presumed-congenital-zika-syndrome-retrospective-case-series-study
#1
Danielle Di Cavalcanti, Lucas V Alves, Geraldo J Furtado, Cleusa C Santos, Fabiana G Feitosa, Maria C Ribeiro, Paulo Menge, Izabelle M Lira, Joao G Alves
OBJECTIVE: To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome. METHODS: An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants...
2017: PloS One
https://www.readbyqxmd.com/read/28422950/application-of-high-resolution-array-comparative-genomic-hybridization-in-children-with-unknown-syndromic-microcephaly
#2
Eirini Tsoutsou, Maria Tzetis, Krinio Giannikou, Maria Braoudaki, Anastasis Mitrakos, Stella Amenta, Nikoletta Selenti, Emmanouil Kanavakis, Dimitrios Zafeiriou, Sophia Kitsiou-Tzeli, Helena Fryssira
BACKROUND: Microcephaly can be either isolated or coexists with other neurological entities and/or multiple congenital anomalies, known as syndromic microcephaly. Although many syndromic cases can be classified based on the characteristic phenotype, some others remain uncertain and require further investigation. The present study describes the application of array-Comparative Genomic Hybridization (array-CGH) as a diagnostic tool for the study of patients with clinical unknown syndromic microcephaly...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28422173/critical-involvement-of-zeb2-in-collagen-fibrillogenesis-the-molecular-similarity-between-mowat-wilson-syndrome-and-ehlers-danlos-syndrome
#3
Mika Teraishi, Mikiro Takaishi, Kimiko Nakajima, Mitsunori Ikeda, Yujiro Higashi, Shinji Shimoda, Yoshinobu Asada, Atsushi Hijikata, Osamu Ohara, Yoko Hiraki, Seiji Mizuno, Toshiyuki Fukada, Takahisa Furukawa, Nobuaki Wakamatsu, Shigetoshi Sano
Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Here, we recognized that MOWS patients exhibit many Ehlers-Danlos syndrome (EDS)-like symptoms, such as skin hyperextensibility, atrophic scars and joint hypermobility...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28421065/zika-virus-infection-during-pregnancy-and-congenital-abnormalities
#4
REVIEW
Irfan A Rather, Jameel B Lone, Vivek K Bajpai, Yong-Ha Park
The presence of the Zika virus (ZIKV) infection has gone ahead to be a threat to people based on its adverse impacts. More specifically, the pregnant women have been discouraged from traveling to the areas affected by the ZIKV because of the likelihood of the virus causing congenital abnormalities especially the microcephaly. The pregnant women probably attracted the virus during their first trimester while visiting ZIKV affected territories. Although the ZIKV infected cases have reduced in some parts of countries, the global risk assessment has not been changed...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28419980/evaluation-of-glut1-variation-in-non-acquired-focal-epilepsy
#5
Alexander Peeraer, John A Damiano, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic, Saul A Mullen, Michael S Hildebrand
Brain glucose transport is dependent on glucose transporter 1 (GLUT1), encoded by the solute carrier family 2 member 1 (SLC2A1) gene. Mutations in SLC2A1 cause GLUT1 deficiency which is characterized by a broad spectrum of neurological phenotypes including generalized epilepsy, motor disorders, developmental delay and microcephaly. Recent case reports suggest SLC2A1 mutations can contribute to non-acquired focal epilepsy (NAFE) but interrogation of a large patient cohort has not been reported. We studied 200 patients with NAFE (126 with temporal lobe epilepsy) comprising 104 females and 96 males with a mean age of onset of 18 years...
April 10, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28418814/ionizing-radiation-exposure-during-pregnancy-effects-on-postnatal-development-and-life
#6
Shayenthiran Sreetharan, Christopher Thome, Sujeenthar Tharmalingam, Devon E Jones, Adomas V Kulesza, Neelam Khaper, Simon J Lees, Joanna Y Wilson, Douglas R Boreham, T C Tai
Reliable human data on the effects of prenatal exposure to ionizing radiation are largely based on high-dose exposures. Exposure to low doses may produce effects that are not easily observable at birth, and may persist over the course of the offspring's postnatal life. This is important when considering fetal programing, a phenomenon characterized by changes in offspring phenotype due to a stress experienced in utero. In this review, we briefly summarize the known effects of both high- and low-dose exposure to ionizing radiation during pregnancy in humans...
April 18, 2017: Radiation Research
https://www.readbyqxmd.com/read/28418539/ophthalmic-manifestations-of-congenital-zika-syndrome-in-colombia-and-venezuela
#7
Juan B Yepez, Felipe A Murati, Michele Pettito, Carlos F Peñaranda, Jazmin de Yepez, Gladys Maestre, J Fernando Arevalo
Importance: The ocular manifestations and sequelae of Zika virus infection are not well known. Recently, the World Health Organization changed the declaration of Zika as a public health emergency and designated the viral outbreak and related microcephaly clusters as a long-term program of work. This change indicates the urgent need to evaluate and document ophthalmic manifestations in patients for timely management of this disease. In addition, confirmation whether the public health problem in Brazil extends to other regions in South America is needed...
April 13, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28417285/alcohol-and-thiamine-deficiency-trigger-differential-mitochondrial-transition-pore-opening-mediating-cellular-death
#8
REVIEW
Abdoulaye Bâ
Accumulating evidence has shown that binge-type alcohol intake in mothers interferes with thiamine deficiency (TD) to promote the fetal alcohol syndrome (FAS). Developmental alcohol or TD exposures act either synergistically or separately to reproduce FAS features e.g. intrauterine growth retardation and related microcephaly characterized by extensive cellular death induced by one another neurotoxicant. However molecular and cellular mechanisms underlying apoptosis in both alcohol and TD toxicities are unknown...
April 17, 2017: Apoptosis: An International Journal on Programmed Cell Death
https://www.readbyqxmd.com/read/28417097/zika-related-microcephaly-in-experimental-models
#9
COMMENT
Jean Pierre Schatzmann Peron, Patrícia Cristina Baleeiro Beltrão Braga
No abstract text is available yet for this article.
2017: Temperature: Multidisciplinary Biomedical Journal
https://www.readbyqxmd.com/read/28413745/seven-cases-of-zika-virus-infection-in-south-florida
#10
Waqaar Khawar, Romina Bromberg, Molly Moor, Natalya Lyubynska, Hilda Mahmoudi
INTRODUCTION: Zika virus, an arbovirus of the Flaviviridae family, is a mosquito-borne virus known to cause microcephaly through vertical transmission. Infection presents with mild, self-limiting symptoms. Currently, a Zika virus outbreak has spread across most of South and Central America. Travel-related and sexually transmitted cases have been reported across the United States. However, the vector-borne transmission has been limited to Florida and Texas. We present seven cases of Zika virus infection that presented at a single institution in South Florida...
March 16, 2017: Curēus
https://www.readbyqxmd.com/read/28412374/a-novel-mitochondrial-atp6-frameshift-mutation-causing-isolated-complex-v-deficiency-ataxia-and-encephalomyopathy
#11
Christopher Benjamin Jackson, Dagmar Hahn, Barbara Schröter, Uwe Richter, Brendan Battersby, Thomas Schmitt-Mechelke, Paula Martinen, Jean-Marc Nuoffer, André Schaller
We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. A heteroplasmic frameshift mutation in the MT-ATP6 gene was confirmed in the patient's skeletal muscle and blood. The mutation was not detectable in the mother's DNA extracted from blood or buccal cells. Enzymatic and oxymetric analysis of the mitochondrial respiratory system in the patients' skeletal muscle and skin fibroblasts demonstrated an isolated complex V deficiency...
April 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28409618/zika-virus-common-questions-and-answers
#12
Irogue I Igbinosa, Ingrid B Rabe, Titilope Oduyebo, Sonja A Rasmussen
Since local mosquito-borne transmission of Zika virus was first reported in Brazil in early 2015, the virus has spread rapidly, with active transmission reported in at least 61 countries and territories worldwide, including the United States. Zika virus infection during pregnancy is a cause of microcephaly and other severe brain anomalies. The virus is transmitted primarily through the bite of an infected Aedes mosquito, but other routes of transmission include sexual, mother-to-fetus during pregnancy, mother-to-infant at delivery, laboratory exposure, and, possibly, transfusion of blood products...
April 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/28409412/microcephalic-osteodysplastic-primordial-dwarfism-type-ii-a-clinical-review
#13
REVIEW
Michael B Bober, Andrew P Jackson
PURPOSE OF THE REVIEW: This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII). RECENT FINDINGS: Over the last 15 years, significant strides have been made in the diagnosis, natural history, and management of MOPDII. MOPDII is the most common and well described form of MPD...
April 13, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28407396/a-further-family-of-stromme-syndrome-carrying-cenpf-mutation
#14
Ferda Ozkinay, Tahir Atik, Esra Isik, Zeliha Gormez, Mahmut Sagiroglu, Ozlem Atan Sahin, Nergul Corduk, Huseyin Onay
Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3-month-old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of a previous child with the same findings in addition to "apple peel" intestinal atresia had been noted...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28403328/zika-puzzle-in-brazil-peculiar-conditions-of-viral-introduction-and-dissemination-a-review
#15
Cristina Possas, Patricia Brasil, Mauro Ca Marzochi, Amilcar Tanuri, Reinaldo M Martins, Ernesto Ta Marques, Myrna C Bonaldo, Antonio Gp Ferreira, Ricardo Lourenço-de-Oliveira, Rita Maria R Nogueira, Patricia C Sequeira, Keyla Bf Marzochi, Akira Homma
This article discusses the peculiar conditions that favoured the unexpected introduction of Zika virus into the poorest northeastern region of Brazil in 2015, its speed of transmission to other Brazilian states, other Latin American countries and other regions, and the severity of related neurological disorders in newborns and adults. Contrasting with evidence that Zika had so far caused only mild cases in humans in the last six decades, the epidemiological scenario of this outbreak in Brazil indicates dramatic health effects: in 2015, an increase of 20-fold in notified cases of microcephaly and/or central nervous system (CNS) alterations suggestive of Zika congenital infection, followed by an exponential increase in 2016, with 2366 cumulative cases confirmed in the country by the end of December 2016...
April 6, 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/28403061/microcephaly-case-fatality-rate-associated-with-zika-virus-infection-in-brazil-current-estimates
#16
Antonio José Ledo Alves da Cunha, Maria Clara de Magalhães-Barbosa, Fernanda Lima-Setta, Roberto de Andrade Medronho, Arnaldo Prata-Barbosa
Considering the currently confirmed cases of microcephaly and related deaths associated with Zika virus in Brazil, the estimated case fatality rate is 8.3% (95% confidence interval: 7.2-9.6). However, a third of the reported cases remain under investigation. If the confirmation rates of cases and deaths are the same in the future, the estimated case fatality rate will be as high as 10.5% (95% confidence interval: 9.5-11.7).
May 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28402153/maternal-fetal-transmission-of-zika-virus-routes-and-signals-for-infection
#17
Bin Cao, Michael S Diamond, Indira U Mysorekar
The emerging mosquito-borne virus, Zika virus (ZIKV), has been causally associated with adverse pregnancy and neonatal outcomes, including miscarriage, microcephaly, serious brain abnormalities, and other birth defects indicative of a congenital ZIKV syndrome. In this review, we highlight work from human and animal studies on routes of infection in pregnancy that lead to adverse fetal and neonatal outcomes. A number of innate and adaptive immune mechanisms and signaling molecules that may have key roles in ZIKV infection pathogenesis are discussed along with putative viral entry pathways...
April 12, 2017: Journal of Interferon & Cytokine Research
https://www.readbyqxmd.com/read/28399591/autosomal-recessive-primary-microcephaly-mcph-an-update
#18
Sami Zaqout, Deborah Morris-Rosendahl, Angela M Kaindl
Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopmental disorder characterized by a significantly reduced head circumference present already at birth and intellectual disability. Inconsistent features include hyperactivity, an expressive speech disorder, and epilepsy. Here, we provide a brief overview on this rare disorder pertinent for clinicians.
April 11, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28398681/population-based-pregnancy-and-birth-defects-surveillance-in-the-era-of-zika-virus
#19
Suzanne M Gilboa, Cara T Mai, Carrie K Shapiro-Mendoza, Janet D Cragan, Cynthia A Moore, Dana M Meaney-Delman, Denise J Jamieson, Margaret A Honein, Coleen A Boyle
BACKGROUND: Zika virus is a newly recognized human teratogen; monitoring its impact on the birth prevalence of microcephaly and other adverse pregnancy outcomes will continue to be an urgent need in the United States and worldwide. METHODS: When the Centers for Disease Control and Prevention (CDC) activated the Emergency Operations Center for the Zika virus outbreak response in January of 2016, public health leadership recognized that a joint, coordinated effort was required between activities focused on the effects of the infection among pregnant women and those focused on birth defects in fetuses and infants...
March 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28397799/an-mrna-based-vaccine-strategy-against-zika
#20
Gary Wong, George F Gao
Infections with Zika virus are strongly associated with complications such as congenital microcephaly and can trigger Guillain-Barré syndrome in humans, highlighting the urgent need for a safe, efficacious vaccine as a preventative countermeasure. In a recent paper published in Cell, Richner et al. generated a lipid nanoparticle encapsulated modified mRNA vaccine encoding the prM and E genes from Zika virus, which showed protection and sterilizing immunity in immunocompetent mice.
April 11, 2017: Cell Research
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