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1.
Int J Mol Sci ; 20(3)2019 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-30736425

RESUMO

Contemporaneous Zika virus (ZIKV) strains can cause congenital Zika syndrome (CZS). Current ZIKV clinical laboratory testing strategies are limited and include IgM serology (which may wane 12 weeks after initial exposure) and nucleic acid testing (NAT) of maternal serum, urine, and placenta for (+) strand ZIKV RNA (which is often transient). The objectives of this study were to determine if use of additional molecular tools, such as quantitative PCR and microscopy, would add to the diagnostic value of current standard placental ZIKV testing in cases with maternal endemic exposure and indeterminate testing. ZIKV RNA was quantified from dissected sections of placental villi, chorioamnion sections, and full cross-sections of umbilical cord in all cases examined. Quantitation with high-resolution automated electrophoresis determined relative amounts of precisely verified ZIKV (74-nt amplicons). In order to localize and visualize stable and actively replicating placental ZIKV in situ, labeling of flaviviridae glycoprotein, RNA ISH against both (+) and (⁻) ZIKV-specific ssRNA strands, and independent histologic examination for significant pathologic changes were employed. We demonstrate that the use of these molecular tools added to the diagnostic value of placental ZIKV testing among suspected cases of congenital Zika syndrome with poorly ascribed maternal endemic exposure.


Assuntos
Placenta/patologia , Placenta/virologia , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/virologia , Infecção por Zika virus/diagnóstico , Infecção por Zika virus/virologia , Zika virus , Adulto , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Feminino , Humanos , Imuno-Histoquímica , Transmissão Vertical de Doença Infecciosa , Imagem por Ressonância Magnética , Microcefalia/diagnóstico , Microcefalia/etiologia , Fenótipo , Gravidez , Avaliação de Sintomas , Síndrome , Ultrassonografia Pré-Natal , Adulto Jovem , Infecção por Zika virus/transmissão
2.
Indian J Pathol Microbiol ; 62(1): 149-152, 2019 Jan-Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30706883

RESUMO

NeuLaxova syndrome (NLS) is a rare congenital abnormality involving multiple systems. Until date, only 60 cases of this syndrome have been reported in the literature. A stillborn fetus from a 23-year-old female with bad obstetrics history and consanguinity marriage, presented at 41 weeks gestation and not appreciating fetal movements for the past 3 days. Ultrasound examination revealed the absence of fetal cardiac activity and features of growth retardation. The fetus was sent for pathological examination. At autopsy, fetus had ichthyosis over the scalp and face, depressed nasal bridge, low set ears, microcephaly, slopping forehead, wide interdigital spaces, edema of hands and feet, hypoplastic penis, right leg showed congenital talipes equinovarus and left leg showed rocker bottom foot. On dissection, all organs were in situ. Both lungs were hypoplastic, brain was atrophied, and heart showed right ventricle hypertrophied. A diagnosis of NLS was made. Genetic counseling and early serial ultrasound examination should be performed at high-risk families because of its autosomal recessive mode of inheritance. Early diagnosis of the disease may offer termination of the pregnancy as an option. The prognosis is poor, and the affected newborns are either stillborn or die immediately after birth.


Assuntos
Anormalidades Múltiplas/diagnóstico , Encefalopatias/diagnóstico , Retardo do Crescimento Fetal/diagnóstico , Feto/patologia , Transtornos do Crescimento/congênito , Ictiose/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico , Microcefalia/diagnóstico , Encéfalo/patologia , Encefalopatias/congênito , Consanguinidade , Face/patologia , Feminino , Idade Gestacional , Transtornos do Crescimento/diagnóstico , Humanos , Recém-Nascido , Cariotipagem , Microcefalia/etiologia , Pais , Gravidez , Fatores de Risco , Natimorto , Adulto Jovem
3.
Gene ; 695: 12-17, 2019 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-30738969

RESUMO

Microcephaly is a rare condition in which the occipitofrontal circumference in a child is more than two standard deviations below the mean of children of the same age and gender. It is mainly caused by genetic abnormalities that interfere with the growth of the cerebral cortex during early months of fetal development. We present a case of a 12 years old patient with microcephaly. To identify a possible genetic origin of the phenotype, we performed array CGH and exome sequencing in the patient. Exome sequencing revealed the presence of a de novo missense mutation in the TUBB5 gene (E401K). Mutations in the TUBB5 are mainly responsible for microcephaly but the clinical spectrum is wide, from patients with severe developmental delay, and the presence of different brain malformations, to patients with only slightly cognitive impairment and normal motor development. Our patient shows a milder phenotype than other patients carrying the same mutation. These differences in the clinical features suggest that other factors, presumably genetic or epigenetic, could be modulating clinical expressivity of TUBB5. It is therefore evident that more functional studies are needed to understand the pathology that underlies the clinical spectrum of tubulin associated disease states.


Assuntos
Deficiências do Desenvolvimento/genética , Microcefalia/genética , Malformações do Sistema Nervoso/genética , Tubulina (Proteína)/genética , Criança , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/fisiopatologia , Exoma/genética , Feminino , Humanos , Masculino , Microcefalia/diagnóstico , Microcefalia/fisiopatologia , Mutação , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/fisiopatologia
4.
Hum Genet ; 138(3): 221-229, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30758658

RESUMO

Nuclear pore complex (NPC) is a fundamental component of the nuclear envelope and is key to the nucleocytoplasmic transport. Mutations in several NUP genes that encode individual components of NPC known as nucleoporins have been identified in recent years among patients with static encephalopathies characterized by developmental delay and microcephaly. We describe a multiplex consanguineous family in which four affected members presented with severe neonatal hypotonia, profound global developmental delay, progressive microcephaly and early death. Autozygome and linkage analysis revealed that this phenotype is linked to a founder disease haplotype (chr9:127,113,732-135,288,807) in which whole exome sequencing revealed the presence of a novel homozygous missense variant in NUP214. Functional analysis of patient-derived fibroblasts recapitulated the dysmorphic phenotype of nuclei that was previously described in NUP214 knockdown cells. In addition, the typical rim staining of NUP214 is largely displaced, further supporting the deleterious effect of the variant. Our data expand the list of NUP genes that are mutated in encephalopathy disorders in humans.


Assuntos
Encefalopatias/diagnóstico , Encefalopatias/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Microcefalia/diagnóstico , Microcefalia/genética , Complexo de Proteínas Formadoras de Poros Nucleares/deficiência , Sequência de Aminoácidos , Consanguinidade , Feminino , Genes Recessivos , Ligação Genética , Homozigoto , Humanos , Lactente , Mutação , Linhagem , Fenótipo , Índice de Gravidade de Doença , Sequenciamento Completo do Exoma
5.
Hum Genet ; 138(3): 231-239, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30778726

RESUMO

Pseudouridylation is the most common post-transcriptional modification, wherein uridine is isomerized into 5-ribosyluracil (pseudouridine, Ψ). The resulting increase in base stacking and creation of additional hydrogen bonds are thought to enhance RNA stability. Pseudouridine synthases are encoded in humans by 13 genes, two of which are linked to Mendelian diseases: PUS1 and PUS3. Very recently, PUS7 mutations were reported to cause intellectual disability with growth retardation. We describe two families in which two different homozygous PUS7 mutations (missense and frameshift deletion) segregate with a phenotype comprising intellectual disability and progressive microcephaly. Short stature and hearing loss were variable in these patients. Functional characterization of the two mutations confirmed that both result in decreased levels of Ψ13 in tRNAs. Furthermore, the missense variant of the S. cerevisiae ortholog failed to complement the growth defect of S. cerevisiae pus7Δ trm8Δ mutants. Our results confirm that PUS7 is a bona fide Mendelian disease gene and expand the list of human diseases caused by impaired pseudouridylation.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Deficiência Intelectual/genética , Microcefalia/genética , Mutação , Pseudouridina/genética , Adolescente , Sequência de Aminoácidos , Criança , Mapeamento Cromossômico , Consanguinidade , Feminino , Genes Recessivos , Humanos , Masculino , Microcefalia/diagnóstico , Linhagem , Fenótipo , RNA de Transferência/genética , Sequenciamento Completo do Exoma
6.
Artigo em Inglês | MEDLINE | ID: mdl-30678125

RESUMO

Zika virus (ZIKV) infection appeared in Brazil in 2015, causing an epidemic outbreak with increased rates of microcephaly and other serious birth disorders. We reviewed 102 cases of children who were diagnosed with microcephaly at birth and who had gestational exposure to ZIKV during the outbreak. We describe the clinical, neuroimaging, and neurophysiological findings. Most mothers (81%) reported symptoms of ZIKV infection, especially cutaneous rash, during the first trimester of pregnancy. The microcephaly was severe in 54.9% of the cases. All infants presented with brain malformations. The most frequent neuroimaging findings were cerebral atrophy (92.1%), ventriculomegaly (92.1%), malformation of cortical development (85.1%), and cortical⁻subcortical calcifications (80.2%). Abnormalities in neurological exams were found in 97.0% of the cases, epileptogenic activity in 56.3%, and arthrogryposis in 10.8% of the infants. The sensorineural screening suggested hearing loss in 17.3% and visual impairment in 14.1% of the infants. This group of infants who presented with microcephaly and whose mothers were exposed to ZIKV early during pregnancy showed clinical and radiological criteria for congenital ZIKV infection. A high frequency of brain abnormalities and signs of early neurological disorders were found, and epileptogenic activity and signs of sensorineural alterations were common. This suggests that microcephaly can be associated with a worst spectrum of neurological manifestations.


Assuntos
Microcefalia/patologia , Microcefalia/fisiopatologia , Infecção por Zika virus/congênito , Brasil/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Microcefalia/diagnóstico , Microcefalia/epidemiologia , Neuroimagem , Exame Neurológico , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Infecção por Zika virus/epidemiologia
7.
J Matern Fetal Neonatal Med ; 32(3): 493-501, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28942698

RESUMO

OBJECTIVE: The objective of this study is to determine the main neuroimaging findings of microcephalic newborns with possible Zika virus (ZIKV) intrauterine infection using transfontanellar cranial ultrasound. METHODS: We performed a retrospective study to describe the main neuroimaging findings in newborns with microcephaly and possible association with congenital ZIKV infection. Microcephaly was defined in the postnatal period using transfontanellar cranial examination which was performed using both two- (2D) and three-dimensional (3D) ultrasound. RESULTS: One hundred and fifty newborns with microcephaly were identified during the study period. The mean ± (standard deviation - SD) of cephalic perimeter was 28.5 ± 4.2 cm (range, 25-38 cm). Transfontanellar neuroimaging patterns detected cerebral calcifications, neuronal migrational abnormalities, dysgenesis of the corpus callosum, and cerebellar atrophy in 34.9%, 31.1%, 26%, and 16.2%, respectively. Hydrocephalus was seen in 28% of overall newborns. A history of maculopapular rash was present in almost half of the mothers (46.1%). CONCLUSION: Neuroimaging patterns by means of transfontanellar ultrasound are accurate and diagnostic investigations of brain pathology in newborns affected by microcephaly and possible intrauterine ZIKV infection.


Assuntos
Fontanelas Cranianas/diagnóstico por imagem , Microcefalia/diagnóstico , Neuroimagem/métodos , Complicações Infecciosas na Gravidez , Infecção por Zika virus/complicações , Infecção por Zika virus/diagnóstico , Fontanelas Cranianas/patologia , Feminino , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/virologia , Recém-Nascido , Masculino , Microcefalia/virologia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/virologia , Estudos Retrospectivos , Ultrassonografia/métodos , Zika virus/fisiologia , Infecção por Zika virus/congênito
8.
Medicine (Baltimore) ; 97(29): e11521, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30024536

RESUMO

RATIONALE: Holoprosencephaly is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain of the embryo into 2 hemispheres. We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynostosis. PATIENT CONCERN: The main knowledge added by this case is the late ultrasound diagnosis and chromosomal analysis that revealed a very rare abnormality (45X/46,XX/47,XX) with mosaicism at chromosome 18. DIAGNOSES: Investigation of the mother revealed nothing remarkable from clinical point of view and on laboratory tests. Ultrasonography identified a fetal biometry appropriate for gestational age, except for the head biometry and abdominal circumference, that were appropriate for less than the fifth percentile. Microcephaly, a large midline monoventricle, absent midlinestructures, cleft lip, cebocephaly (hypotelorism, single-nostril nose), ethmocephaly (hypotelorism, interorbital proboscis) and craniosynostosis, were also present. Fetal magnetic resonance imaging of fetus revealed an absent midline structure, a central monoventricle, abnormal corpus calosum, and abnormal gyri. INTERVENTIONS: A cesarean section at 38 weeks was indicated for fetal bradycardia and a female baby was delivered, with Apgar score 6, weight 2290g. After birth, the diagnosis of the fetus confirmed holoprosencephaly with facial anomalies and demonstrated repeated tonic-clonic seizure, severe respiratory failure, cyanosis, decreased muscle tone, palor, and apnea. Laboratory examination of the newborn revealed acidosis and a prolonged of prothrombin time. The neonate was treated for severe respiratory distress syndrome, with immediate intubation and resuscitation. Vitamin K, fresh frozen plasma, and antibiotics were also administered. OUTCOMES: After delivery, exitus of the fetus occurred at 3 days and 18hours due to massive pulmonary hemorrhage. LESSONS: We described a case of alobar holoprosencephaly diagnosed at 38 weeks of gestation and associated with a rare chromosomal abnormality (45X/46,XX/47,XX) with mosaicism at chromosome 18. Emotional implications could have been less severe if the patient underwent regular ultrasonography allowing a diagnosis in the first or early second trimester.


Assuntos
Anormalidades Múltiplas/diagnóstico , Transtornos Cromossômicos/diagnóstico , Holoprosencefalia/diagnóstico , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Transtornos Cromossômicos/complicações , Cromossomos Humanos Par 18/genética , Craniossinostoses/complicações , Craniossinostoses/diagnóstico , Parto Obstétrico/métodos , Feminino , Idade Gestacional , Holoprosencefalia/complicações , Humanos , Recém-Nascido , Cariótipo , Imagem por Ressonância Magnética/métodos , Microcefalia/complicações , Microcefalia/diagnóstico , Mosaicismo , Gravidez , Ultrassonografia Pré-Natal/métodos
9.
BMC Ophthalmol ; 18(1): 147, 2018 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-29929488

RESUMO

BACKGROUND: Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by microcephaly and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and ataxia, as well as renal abnormalities such as nephrotic syndrome, proteinuria, end-stage renal disease (ESRD), and hiatal hernia. CASE PRESENTATION: We describe a GMS case diagnosed with homozygous missense mutation in the WDR73 gene, with absence of renal abnormalities. We expanded the clinical phenotype of GMS with WDR73 gene defect to include retinal dysfunction with missense mutation and developmental dysplasia of the hip. We compared eye findings of our case to previously reported cases, and we present an electroretinogram (ERG) picture for the first time in the literature. CONCLUSION: We recommend that clinicians screen patients with GM syndrome for retinal dysfunction and that a skeletal survey should be done to detect developmental dysplasia of the hip (DDH) so as to provide for early intervention.


Assuntos
DNA/genética , Hérnia Hiatal/genética , Microcefalia/genética , Mutação de Sentido Incorreto , Nefrose/genética , Proteínas/genética , Doenças Retinianas/etiologia , Análise Mutacional de DNA , Eletrorretinografia , Feminino , Seguimentos , Hérnia Hiatal/complicações , Hérnia Hiatal/diagnóstico , Humanos , Lactente , Microcefalia/complicações , Microcefalia/diagnóstico , Nefrose/complicações , Nefrose/diagnóstico , Fenótipo , Proteínas/metabolismo , Doenças Retinianas/diagnóstico , Doenças Retinianas/metabolismo
10.
Ital J Pediatr ; 44(1): 59, 2018 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-29801510

RESUMO

BACKGROUND: Currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis. CASE PRESENTATION: We report the case of a child that presented chronic constipation, encopresis and mycrocephaly. The characteristics were initially compatible with a case of functional constipation and a therapy with polyethylene glycol was prescribed. After a year, because of poor response, a plain abdominal X-ray was performed, detecting sacrum abnormalities. Finally, a CGH-array analysis was performed and a form of Currarino Syndrome caused by a rare 7q36 microdeletion, was diagnosed. CONCLUSION: Occult spinal dysraphism should be suspected in case of poor polyethylene glycol responder constipation, even when evident sacral abnormalities on the physical examination are not detected.


Assuntos
Canal Anal/anormalidades , Deleção Cromossômica , Cromossomos Humanos Par 7/genética , Anormalidades do Sistema Digestório/diagnóstico , Anormalidades do Sistema Digestório/genética , Microcefalia/diagnóstico , Microcefalia/genética , Reto/anormalidades , Sacro/anormalidades , Siringomielia/diagnóstico , Siringomielia/genética , Pré-Escolar , Feminino , Proteínas de Homeodomínio/genética , Humanos , Fatores de Transcrição/genética
11.
J Obstet Gynaecol Res ; 44(7): 1313-1317, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29673003

RESUMO

Premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome is a rare genetic disorder. In this case report, we describe the prenatal diagnosis of PCS/MVA syndrome in a 24-year-old, gravida 1, para 1, woman who was referred to us in her second trimester due to fetal growth restriction and extreme microcephaly (-5.0 standard deviations). Amniocentesis and chromosomal analysis confirmed PCS in 80% of cultured fetal cells. PCS findings were positive in 9% of paternal cells and 11% of maternal cells, indicative that both were PCS carriers. Genetic analysis confirmed that the fetus carried a combined heterozygote of maternal G > A point mutation of the promoter area of the BUB1B gene and a paternal Alu sequence insertion between intron 8 and exon 9 of the BUB1B gene. As PCS/MVA syndrome is associated with the development of various malignancies in early life, prenatal diagnosis is important for effective planning of post-natal care.


Assuntos
Amniocentese/métodos , Transtornos Cromossômicos/diagnóstico , Retardo do Crescimento Fetal/diagnóstico , Testes Genéticos/métodos , Microcefalia/diagnóstico , Adulto , Transtornos Cromossômicos/genética , Feminino , Retardo do Crescimento Fetal/genética , Humanos , Microcefalia/genética , Mosaicismo , Gravidez , Adulto Jovem
12.
Science ; 360(6387): 444-448, 2018 04 27.
Artigo em Inglês | MEDLINE | ID: mdl-29700266

RESUMO

Mitigating global infectious disease requires diagnostic tools that are sensitive, specific, and rapidly field deployable. In this study, we demonstrate that the Cas13-based SHERLOCK (specific high-sensitivity enzymatic reporter unlocking) platform can detect Zika virus (ZIKV) and dengue virus (DENV) in patient samples at concentrations as low as 1 copy per microliter. We developed HUDSON (heating unextracted diagnostic samples to obliterate nucleases), a protocol that pairs with SHERLOCK for viral detection directly from bodily fluids, enabling instrument-free DENV detection directly from patient samples in <2 hours. We further demonstrate that SHERLOCK can distinguish the four DENV serotypes, as well as region-specific strains of ZIKV from the 2015-2016 pandemic. Finally, we report the rapid (<1 week) design and testing of instrument-free assays to detect clinically relevant viral single-nucleotide polymorphisms.


Assuntos
Proteínas de Bactérias/química , Proteínas Associadas a CRISPR/química , Vírus da Dengue/isolamento & purificação , Dengue/diagnóstico , Endonucleases/química , Ensaios Enzimáticos , RNA Viral/análise , Infecção por Zika virus/diagnóstico , Zika virus/isolamento & purificação , Adaptação Fisiológica/genética , Vírus da Dengue/genética , Humanos , Microcefalia/diagnóstico , Microcefalia/virologia , Polimorfismo de Nucleotídeo Único , Zika virus/genética
15.
Sci Rep ; 8(1): 1, 2018 01 08.
Artigo em Inglês | MEDLINE | ID: mdl-29311619

RESUMO

Zika virus (ZIKV) has recently caused a pandemic disease, and many cases of ZIKV infection in pregnant women resulted in abortion, stillbirth, deaths and congenital defects including microcephaly, which now has been proposed as ZIKV congenital syndrome. This study aimed to investigate the in situ immune response profile and mechanisms of neuronal cell damage in fatal Zika microcephaly cases. Brain tissue samples were collected from 15 cases, including 10 microcephalic ZIKV-positive neonates with fatal outcome and five neonatal control flavivirus-negative neonates that died due to other causes, but with preserved central nervous system (CNS) architecture. In microcephaly cases, the histopathological features of the tissue samples were characterized in three CNS areas (meninges, perivascular space, and parenchyma). The changes found were mainly calcification, necrosis, neuronophagy, gliosis, microglial nodules, and inflammatory infiltration of mononuclear cells. The in situ immune response against ZIKV in the CNS of newborns is complex. Despite the predominant expression of Th2 cytokines, other cytokines such as Th1, Th17, Treg, Th9, and Th22 are involved to a lesser extent, but are still likely to participate in the immunopathogenic mechanisms of neural disease in fatal cases of microcephaly caused by ZIKV.


Assuntos
Sistema Nervoso Central/imunologia , Sistema Nervoso Central/metabolismo , Imunidade , Microcefalia/etiologia , Infecção por Zika virus/complicações , Zika virus , Apoptose , Biomarcadores , Biópsia , Citocinas/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Recém-Nascido , Mediadores da Inflamação/metabolismo , Masculino , Microcefalia/diagnóstico , Modelos Biológicos , Infecção por Zika virus/virologia
16.
Pesqui. bras. odontopediatria clín. integr ; 18(1): 3982, 15/01/2018. tab
Artigo em Inglês | LILACS, BBO - Odontologia | ID: biblio-965743

RESUMO

Objective: To analyze the chronology of first deciduous tooth eruption in children with microcephaly associated with presumed or confirmed Zika virus. Material and Methods: A longitudinal study was developed with 74 children of both sexes. Data on prematurity, gestational age (in weeks), anthropometric characteristics at birth [length (cm), weight (g) and cephalic perimeter (cm)] and dental eruption (chronological age and corrected age for prematurity in months) were collected and presented through descriptive statistics. Data was analyzed using the Statistical Package for Social Sciences. Results: The majority of children were female (54.1%) and 14.9% were born premature. The mean gestational age was 38.2 (± 1.9) weeks, while length, weight and cephalic perimeter at birth were 45.6 (± 3.1) cm, 2750 (± 526.6) and 30 (± 2.3) cm, respectively. The eruption of the first tooth occurred on average at 12.3 (± 3.0) months of chronological age and at 11.1 (± 2.3) months of corrected age. The first erupted teeth were the lower deciduous central incisors (82.4%). The mean age for dental eruption in males was 12.5 months (± 3.0) and in females 12.0 months (± 3.1) among full-term children. For premature infants, the mean corrected age of dental eruption was 11.5 months (± 3.4) for boys and 11 months (± 1.7) for girls. Conclusion: In this group of children with microcephaly, the first tooth to erupt was the lower central incisor around the first year of life. Girls had lower average eruption time when compared to boys in both chronological age and age corrected for prematurity.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Dente Decíduo/anormalidades , Erupção Dentária , Brasil , Criança , Infecção por Zika virus/diagnóstico , Microcefalia/diagnóstico , Higiene Bucal/métodos , Estudos Epidemiológicos
17.
Pediatr Infect Dis J ; 37(1): 94-95, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28737626

RESUMO

Chikungunya virus is capable of affecting the nervous system of children and adults. We describe a case of sepsis and encephalitis triggered by this agent in a newborn whose mother developed symptoms of acute infection 2 days before delivery. Consequently, the infant had severe encephalitis that evolved with postnatal-onset microcephaly, bilateral optic atrophy, epilepsy and cerebral palsy.


Assuntos
Febre de Chikungunya , Doenças do Recém-Nascido , Microcefalia , Atrofia Óptica , Complicações Infecciosas na Gravidez , Adulto , Febre de Chikungunya/complicações , Febre de Chikungunya/diagnóstico , Vírus Chikungunya , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/etiologia , Masculino , Microcefalia/diagnóstico , Microcefalia/etiologia , Atrofia Óptica/diagnóstico , Atrofia Óptica/etiologia , Gravidez
19.
Am J Med Genet A ; 176(1): 187-193, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29160006

RESUMO

The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of UBE3B. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures, depressed nasal bridge. and anteverted nares. Here we present four patients with five novel UBE3B mutations and propose the inclusion of clinical features to the characteristics of Kaufman oculocerebrofacial syndrome, including prominence of the cheeks and limb anomalies.


Assuntos
Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Estudos de Associação Genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Microcefalia/diagnóstico , Microcefalia/genética , Mutação , Fenótipo , Ubiquitina-Proteína Ligases/genética , Biomarcadores , Criança , Análise Mutacional de DNA , Diagnóstico por Imagem , Anormalidades do Olho/terapia , Facies , Feminino , Heterogeneidade Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Deficiência Intelectual/terapia , Deformidades Congênitas dos Membros/terapia , Microcefalia/terapia , Análise de Sequência de DNA
20.
Dialogues Clin Neurosci ; 20(4): 267-282, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30936767

RESUMO

Expansion of the human brain, and specifically the neocortex, is among the most remarkable evolutionary processes that correlates with cognitive, emotional, and social abilities. Cortical expansion is determined through a tightly orchestrated process of neural stem cell proliferation, migration, and ongoing organization, synaptogenesis, and apoptosis. Perturbations of each of these intricate steps can lead to abnormalities of brain size in humans, whether small (microcephaly) or large (megalencephaly). Abnormalities of brain growth can be clinically isolated or occur as part of complex syndromes associated with other neurodevelopmental problems (eg, epilepsy, autism, intellectual disability), brain malformations, and body growth abnormalities. Thorough review of the genetic literature reveals that human microcephaly and megalencephaly are caused by mutations of a rapidly growing number of genes linked within critical cellular pathways that impact early brain development, with important pathomechanistic links to cancer, body growth, and epilepsy. Given the rapid rate of causal gene identification for microcephaly and megalencephaly understanding the roles and interplay of these important signaling pathways is crucial to further unravel the mechanisms underlying brain growth disorders and, more fundamentally, normal brain growth and development in humans. In this review, we will (a) overview the definitions of microcephaly and megalencephaly, highlighting their classifications in clinical practice; (b) overview the most common genes and pathways underlying microcephaly and megalencephaly based on the fundamental cellular processes that are perturbed during cortical development; and (c) outline general clinical molecular diagnostic workflows for children and adults presenting with microcephaly and megalencephaly.


Assuntos
Encéfalo/patologia , Megalencefalia/patologia , Microcefalia/patologia , Tamanho do Órgão/fisiologia , Transtorno Autístico/genética , Transtorno Autístico/patologia , Humanos , Megalencefalia/genética , Microcefalia/diagnóstico , Microcefalia/genética , Mutação/genética
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