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1.
AJNR Am J Neuroradiol ; 44(10): 1201-1207, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37591769

RESUMO

BACKGROUND AND PURPOSE: Although cardinal imaging features for the diagnostic criteria of the Dandy-Walker phenotype have been recently defined, there is a large range of unreported malformations among these patients. The brainstem, in particular, deserves careful attention because malformations in this region have potentially important implications for clinical outcomes. In this article, we offer detailed information on the association of brainstem dysgenesis in a large, multicentric cohort of patients with the Dandy-Walker phenotype, defining different subtypes of involvement and their potential clinical impact. MATERIALS AND METHODS: In this established multicenter cohort of 329 patients with the Dandy-Walker phenotype, we include and retrospectively review the MR imaging studies and clinical records of 73 subjects with additional brainstem malformations. Detailed evaluation of the different patterns of brainstem involvement and their potential clinical implications, along with comparisons between posterior fossa measurements for the diagnosis of the Dandy-Walker phenotype, was performed among the different subgroups of patients with brainstem involvement. RESULTS: There were 2 major forms of brainstem involvement in patients with Dandy-Walker phenotype including the following: 1) the mild form with anteroposterior disproportions of the brainstem structures "only" (57/73; 78%), most frequently with pontine hypoplasia (44/57; 77%), and 2) the severe form with patients with tegmental dysplasia with folding, bumps, and/or clefts (16/73; 22%). Patients with severe forms of brainstem malformation had significantly increased rates of massive ventriculomegaly, additional malformations involving the corpus callosum and gray matter, and interhemispheric cysts. Clinically, patients with the severe form had significantly increased rates of bulbar dysfunction, seizures, and mortality. CONCLUSIONS: Additional brainstem malformations in patients with the Dandy-Walker phenotype can be divided into 2 major subgroups: mild and severe. The severe form, though less prevalent, has characteristic imaging features, including tegmental folding, bumps, and clefts, and is directly associated with a more severe clinical presentation and increased mortality.


Assuntos
Síndrome de Dandy-Walker , Hidrocefalia , Malformações do Sistema Nervoso , Humanos , Síndrome de Dandy-Walker/diagnóstico por imagem , Estudos Retrospectivos , Tronco Encefálico/diagnóstico por imagem , Prognóstico
2.
AJNR Am J Neuroradiol ; 44(5): 602-610, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37024306

RESUMO

BACKGROUND AND PURPOSE: An increased number of pathogenic variants have been described in mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS). Different imaging presentations have emerged in parallel with a growing recognition of clinical and outcome variability, which pose a diagnostic challenge to neurologists and radiologists and may impact an individual patient's response to therapeutic interventions. By evaluating clinical, neuroimaging, laboratory, and genetic findings, we sought to improve our understanding of the sources of potential phenotype variability in patients with MELAS. MATERIALS AND METHODS: This retrospective single-center study included individuals who had confirmed mitochondrial DNA pathogenic variants and a diagnosis of MELAS and whose data were reviewed from January 2000 through November 2021. The approach included a review of clinical, neuroimaging, laboratory, and genetic data, followed by an unsupervised hierarchical cluster analysis looking for sources of phenotype variability in MELAS. Subsequently, experts identified "victory-variables" that best differentiated MELAS cohort clusters. RESULTS: Thirty-five patients with a diagnosis of mitochondrial DNA-based MELAS (median age, 12 years; interquartile range, 7-24 years; 24 female) were eligible for this study. Fifty-three discrete variables were evaluated by an unsupervised cluster analysis, which revealed that two distinct phenotypes exist among patients with MELAS. After experts reviewed the variables, they selected 8 victory-variables with the greatest impact in determining the MELAS subgroups: developmental delay, sensorineural hearing loss, vision loss in the first strokelike episode, Leigh syndrome overlap, age at the first strokelike episode, cortical lesion size, regional brain distribution of lesions, and genetic groups. Ultimately, 2-step differentiating criteria were defined to classify atypical MELAS. CONCLUSIONS: We identified 2 distinct patterns of MELAS: classic MELAS and atypical MELAS. Recognizing different patterns in MELAS presentations will enable clinical and research care teams to better understand the natural history and prognosis of MELAS and identify the best candidates for specific therapeutic interventions.


Assuntos
Acidose Láctica , Síndrome MELAS , Acidente Vascular Cerebral , Feminino , Humanos , Síndrome MELAS/diagnóstico , Síndrome MELAS/genética , Síndrome MELAS/patologia , Estudos Retrospectivos , DNA Mitocondrial/genética , Fenótipo
3.
AJNR Am J Neuroradiol ; 43(10): 1488-1493, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36137655

RESUMO

BACKGROUND AND PURPOSE: The traditionally described Dandy-Walker malformation comprises a range of cerebellar and posterior fossa abnormalities with variable clinical severity. We aimed to establish updated imaging criteria for Dandy-Walker malformation on the basis of cerebellar development. MATERIALS AND METHODS: In this multicenter study, retrospective MR imaging examinations from fetuses and children previously diagnosed with Dandy-Walker malformation or vermian hypoplasia were re-evaluated, using the choroid plexus/tela choroidea location and the fastigial recess shape to differentiate Dandy-Walker malformation from vermian hypoplasia. Multiple additional measures of the posterior fossa and cerebellum were also obtained and compared between Dandy-Walker malformation and other diagnoses. RESULTS: Four hundred forty-six examinations were analyzed (174 fetal and 272 postnatal). The most common diagnoses were Dandy-Walker malformation (78%), vermian hypoplasia (14%), vermian hypoplasia with Blake pouch cyst (9%), and Blake pouch cyst (4%). Most measures were significant differentiators of Dandy-Walker malformation from non-Dandy-Walker malformation both pre- and postnatally (P < .01); the tegmentovermian and fastigial recess angles were the most significant quantitative measures. Posterior fossa perimeter and vascular injury evidence were not significant differentiators pre- or postnatally (P > .3). The superior posterior fossa angle, torcular location, and vermian height differentiated groups postnatally (P < .01), but not prenatally (P > .07). CONCLUSIONS: As confirmed by objective measures, the modern Dandy-Walker malformation phenotype is best defined by inferior predominant vermian hypoplasia, an enlarged tegmentovermian angle, inferolateral displacement of the tela choroidea/choroid plexus, an obtuse fastigial recess, and an unpaired caudal lobule. Posterior fossa size and torcular location should be eliminated from the diagnostic criteria. This refined phenotype may help guide future study of the numerous etiologies and varied clinical outcomes.


Assuntos
Cistos , Síndrome de Dandy-Walker , Humanos , Estudos Retrospectivos , Síndrome de Dandy-Walker/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Cerebelo/anormalidades , Neuroimagem , Imageamento por Ressonância Magnética/métodos , Fossa Craniana Posterior/diagnóstico por imagem , Fossa Craniana Posterior/anormalidades
4.
AJNR Am J Neuroradiol ; 43(7): 1048-1053, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35772801

RESUMO

BACKGROUND AND PURPOSE: Pathogenic somatic variants affecting the genes Histone 3 Family 3A and 3B (H3F3) are extensively linked to the process of oncogenesis, in particular related to central nervous system tumors in children. Recently, H3F3 germline missense variants were described as the cause of a novel pediatric neurodevelopmental disorder. We aimed to investigate patterns of brain MR imaging of individuals carrying H3F3 germline variants. MATERIALS AND METHODS: In this retrospective study, we included individuals with proved H3F3 causative genetic variants and available brain MR imaging scans. Clinical and demographic data were retrieved from available medical records. Molecular genetic testing results were classified using the American College of Medical Genetics criteria for variant curation. Brain MR imaging abnormalities were analyzed according to their location, signal intensity, and associated clinical symptoms. Numeric variables were described according to their distribution, with median and interquartile range. RESULTS: Eighteen individuals (10 males, 56%) with H3F3 germline variants were included. Thirteen of 18 individuals (72%) presented with a small posterior fossa. Six individuals (33%) presented with reduced size and an internal rotational appearance of the heads of the caudate nuclei along with an enlarged and squared appearance of the frontal horns of the lateral ventricles. Five individuals (28%) presented with dysgenesis of the splenium of the corpus callosum. Cortical developmental abnormalities were noted in 8 individuals (44%), with dysgyria and hypoplastic temporal poles being the most frequent presentation. CONCLUSIONS: Imaging phenotypes in germline H3F3-affected individuals are related to brain features, including a small posterior fossa as well as dysgenesis of the corpus callosum, cortical developmental abnormalities, and deformity of lateral ventricles.


Assuntos
Neoplasias Encefálicas , Histonas , Malformações do Desenvolvimento Cortical , Transtornos do Neurodesenvolvimento , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Criança , Células Germinativas/patologia , Histonas/genética , Humanos , Masculino , Malformações do Desenvolvimento Cortical/patologia , Transtornos do Neurodesenvolvimento/patologia , Estudos Retrospectivos
5.
AJNR Am J Neuroradiol ; 43(1): 146-150, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34857515

RESUMO

BACKGROUND AND PURPOSE: Pathogenic variants in the ACTA2 gene cause a distinctive arterial phenotype that has recently been described to be associated with brain malformation. Our objective was to further characterize gyral abnormalities in patients with ACTA2 pathogenic variants as per the 2020 consensus recommendations for the definition and classification of malformations of cortical development. MATERIALS AND METHODS: We performed a retrospective, multicentric review of patients with proved ACTA2 pathogenic variants, searching for the presence of malformations of cortical development. A consensus read was performed for all patients, and the type and location of cortical malformation were noted in each. The presence of the typical ACTA2 arterial phenotype as well as demographic and relevant clinical data was obtained. RESULTS: We included 13 patients with ACTA2 pathogenic variants (Arg179His mutation, n = 11, and Arg179Cys mutation, n = 2). Ninety-two percent (12/13) of patients had peri-Sylvian dysgyria, 77% (10/13) had frontal dysgyria, and 15% (2/13) had generalized dysgyria. The peri-Sylvian location was involved in all patients with dysgyria (12/12). All patients with dysgyria had a characteristic arterial phenotype described in ACTA2 pathogenic variants. One patient did not have dysgyria or the characteristic arterial phenotype. CONCLUSIONS: Dysgyria is common in patients with ACTA2 pathogenic variants, with a peri-Sylvian and frontal predominance, and was seen in all our patients who also had the typical ACTA2 arterial phenotype.


Assuntos
Malformações do Sistema Nervoso , Actinas/genética , Humanos , Mutação , Fenótipo , Estudos Retrospectivos
6.
AJNR Am J Neuroradiol ; 42(7): 1334-1340, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34255734

RESUMO

BACKGROUND AND PURPOSE: Achieving a specific diagnosis in leukodystrophies is often difficult due to clinical and genetic heterogeneity. Mitochondrial defects cause 5%-10% of leukodystrophies. Our objective was to define MR imaging features commonly shared by mitochondrial leukodystrophies and to distinguish MR imaging patterns related to specific genetic defects. MATERIALS AND METHODS: One hundred thirty-two patients with a mitochondrial leukodystrophy with known genetic defects were identified in the data base of the Amsterdam Leukodystrophy Center. Numerous anatomic structures were systematically assessed on brain MR imaging. Additionally, lesion characteristics were scored. Statistical group analysis was performed for 57 MR imaging features by hierarchic testing on clustered genetic subgroups. RESULTS: MR imaging features indicative of mitochondrial disease that were frequently found included white matter rarefaction (n = 50 patients), well-delineated cysts (n = 20 patients), T2 hyperintensity of the middle blade of the corpus callosum (n = 85 patients), and symmetric abnormalities in deep gray matter structures (n = 42 patients). Several disorders or clusters of disorders had characteristic features. The combination of T2 hyperintensity in the brain stem, middle cerebellar peduncles, and thalami was associated with complex 2 deficiency. Predominantly periventricular localization of T2 hyperintensities and cystic lesions with a distinct border was associated with defects in complexes 3 and 4. T2-hyperintense signal of the cerebellar cortex was specifically associated with variants in the gene NUBPL. T2 hyperintensities predominantly affecting the directly subcortical cerebral white matter, globus pallidus, and substantia nigra were associated with Kearns-Sayre syndrome. CONCLUSIONS: In a large group of patients with a mitochondrial leukodystrophy, general MR imaging features suggestive of mitochondrial disease were found. Additionally, we identified several MR imaging patterns correlating with specific genotypes. Recognition of these patterns facilitates the diagnosis in future patients.


Assuntos
Encéfalo , Transtornos Leucocíticos , Imageamento por Ressonância Magnética , Encéfalo/diagnóstico por imagem , Tronco Encefálico , Humanos , Transtornos Leucocíticos/diagnóstico por imagem , Leucócitos , Mitocôndrias , Proteínas Mitocondriais , Estudos Retrospectivos , Substância Branca/diagnóstico por imagem
7.
AJNR Am J Neuroradiol ; 42(5): 961-968, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33664107

RESUMO

BACKGROUND AND PURPOSE: Primary posterior fossa tumors comprise a large group of neoplasias with variable aggressiveness and short and long-term outcomes. This study aimed to validate the clinical usefulness of a radiologic decision flow chart based on previously published neuroradiologic knowledge for the diagnosis of posterior fossa tumors in children. MATERIALS AND METHODS: A retrospective study was conducted (from January 2013 to October 2019) at 2 pediatric referral centers, Children's Hospital of Philadelphia, United States, and Great Ormond Street Hospital, United Kingdom. Inclusion criteria were younger than 18 years of age and histologically and molecularly confirmed posterior fossa tumors. Subjects with no available preoperative MR imaging and tumors located primarily in the brain stem were excluded. Imaging characteristics of the tumors were evaluated following a predesigned, step-by-step flow chart. Agreement between readers was tested with the Cohen κ, and each diagnosis was analyzed for accuracy. RESULTS: A total of 148 cases were included, with a median age of 3.4 years (interquartile range, 2.1-6.1 years), and a male/female ratio of 1.24. The predesigned flow chart facilitated identification of pilocytic astrocytoma, ependymoma, and medulloblastoma sonic hedgehog tumors with high sensitivity and specificity. On the basis of the results, the flow chart was adjusted so that it would also be able to better discriminate atypical teratoid/rhabdoid tumors and medulloblastoma groups 3 or 4 (sensitivity = 75%-79%; specificity = 92%-99%). Moreover, our adjusted flow chart was useful in ruling out ependymoma, pilocytic astrocytomas, and medulloblastoma sonic hedgehog tumors. CONCLUSIONS: The modified flow chart offers a structured tool to aid in the adjunct diagnosis of pediatric posterior fossa tumors. Our results also establish a useful starting point for prospective clinical studies and for the development of automated algorithms, which may provide precise and adequate diagnostic tools for these tumors in clinical practice.


Assuntos
Algoritmos , Neoplasias Infratentoriais/diagnóstico , Imageamento por Ressonância Magnética/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Neoplasias Infratentoriais/patologia , Masculino
8.
AJNR Am J Neuroradiol ; 42(2): 389-396, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33384291

RESUMO

BACKGROUND AND PURPOSE: Little is known about imaging features of spinal cord lesions in mitochondrial disorders. The aim of this research was to assess the frequency, imaging features, and pathogenic variants causing primary mitochondrial disease in children with spinal cord lesions. MATERIALS AND METHODS: This retrospective analysis included patients seen at Children's Hospital of Philadelphia between 2000 and 2019 who had a confirmed diagnosis of a primary (genetic-based) mitochondrial disease and available MR imaging of the spine. The MR imaging included at least both sagittal and axial fast spin-echo T2-weighted images. Spine images were independently reviewed by 2 neuroradiologists. Location and imaging features of spinal cord lesions were correlated and tested using the Fisher exact test. RESULTS: Of 119 children with primary mitochondrial disease in whom MR imaging was available, only 33 of 119 (28%) had available spine imaging for reanalysis. Nineteen of these 33 individuals (58%) had evidence of spinal cord lesions. Two main patterns of spinal cord lesions were identified: group A (12/19; 63%) had white ± gray matter involvement, and group B (7/19; 37%) had isolated gray matter involvement. Group A spinal cord lesions were similar to those seen in patients with neuromyelitis optica spectrum disorder, multiple sclerosis, anti-myelin oligodendrocyte glycoprotein-IgG antibody disease, and leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Group B patients had spinal cord findings similar to those that occur with ischemia and viral infections. Significant associations were seen between the pattern of lesions (group A versus group B) and the location of lesions in cervical versus thoracolumbar segments, respectively (P < .01). CONCLUSIONS: Spinal cord lesions are frequently observed in children with primary mitochondrial disease and may mimic more common causes such as demyelination and ischemia.


Assuntos
Doenças Mitocondriais/patologia , Neuroimagem/métodos , Medula Espinal/diagnóstico por imagem , Medula Espinal/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Inflamação/diagnóstico , Inflamação/patologia , Isquemia/diagnóstico , Isquemia/patologia , Imageamento por Ressonância Magnética/métodos , Masculino , Estudos Retrospectivos , Doenças da Medula Espinal/diagnóstico , Doenças da Medula Espinal/etiologia , Doenças da Medula Espinal/patologia
9.
Sci Total Environ ; 751: 142332, 2021 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-33182008

RESUMO

Portugal (Southwestern Europe) experiences a high incidence of dry hazards such as drought, a phenomenon that entails a notable burden of morbidity and mortality worldwide. For the first time in the Lisbon district, a time-series study was conducted to evaluate the impact of drought measured by the Standardised Precipitation Index (SPI) and Standardised Precipitation-Evapotranspiration Index (SPEI) on the daily natural, circulatory, and respiratory mortality from 1983 to 2016. An assessment by gender and adult age population groups (45-64, 65-74, ≥75 years old) was included. To estimate the relative risks and attributable risks, generalised linear models with a Poisson link were used. Additionally, the influence of heatwaves and atmospheric pollution for the period from 2007 to 2016 (available period for pollution data) was considered. The main findings indicate statistically significant associations between drought conditions and all analysed causes of mortality. Moreover, SPEI shows an improved capability to reflect the different risks. People in the 45-64 year-old group did not indicate any significant influence in any of the cases, whereas the oldest groups had the highest risk. The drought effects on mortality among the population varied across the different study periods, and in general, the men population was affected more than the women population (except for the SPEI and circulatory mortality during the long study period). The short-term influence of droughts on mortality could be explained primarily by the effect of heatwaves and pollution; however, when both gender and age were considered in the Poisson models, the effect of drought also remained statistically significant when all climatic phenomena were included for specific groups of the total population and men. This type of study facilitates a better understanding of the population at risk and allows the development of more effective measures to mitigate the drought effects on the population.


Assuntos
Secas , Adulto , Europa (Continente) , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Portugal/epidemiologia , Fatores de Risco
10.
AJNR Am J Neuroradiol ; 42(1): 167-172, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33122211

RESUMO

BACKGROUND AND PURPOSE: Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy are α-dystroglycan-related muscular disorders associated with brain malformations and eye abnormalities in which no structural inner ear abnormality has been described radiologically. We collected patients from 6 tertiary pediatric hospitals and reported the radiologic features and frequency of inner ear dysplasias. MATERIALS AND METHODS: Patients previously diagnosed clinicoradiologically with Walker-Warburg syndrome, muscle-eye-brain disease, or Fukuyama congenital muscular dystrophy were included. We recorded the pathogenic variant, when available. Brain MR imaging and/or CT findings were reviewed in consensus, and inner ear anomalies were classified according to previous description in the literature. We then correlated the clinicoradiologic phenotype with the inner ear phenotype. RESULTS: Thirteen patients fulfilled the criteria for the Walker-Warburg syndrome phenotype, 8 for muscle-eye-brain disease, and 3 for Fukuyama congenital muscular dystrophy. A dysplastic cochlea was demonstrated in 17/24. The most frequent finding was a pronounced cochlear hypoplasia type 4 with a very small anteriorly offset turn beyond the normal-appearing basal turn (12/13 patients with Walker-Warburg syndrome and 1/11 with muscle-eye-brain disease or Fukuyama congenital muscular dystophy). Two of 8 patients with muscle-eye-brain disease, 1/3 with Fukuyama congenital muscular dystrophy, and 1/13 with Walker-Warburg syndrome showed a less severe cochlear hypoplasia type 4. The remaining patients without Walker-Warburg syndrome were healthy. The vestibule and lateral semicircular canals of all patients were normal. Cranial nerve VIII was present in all patients with diagnostic MR imaging. CONCLUSIONS: Most patients with the severe α-dystroglycanopathy Walker-Warburg syndrome phenotype have a highly characteristic cochlear hypoplasia type 4. Patients with the milder variants, muscle-eye-brain disease and Fukuyama congenital muscular dystrophy, more frequently have a normal cochlea or milder forms of hypoplasia.


Assuntos
Cóclea/anormalidades , Síndrome de Walker-Warburg/patologia , Adolescente , Criança , Pré-Escolar , Distroglicanas/genética , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Masculino , Neuroimagem , Fenótipo , Síndrome de Walker-Warburg/complicações , Síndrome de Walker-Warburg/genética , Adulto Jovem
11.
AJNR Am J Neuroradiol ; 41(5): 917-922, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32381541

RESUMO

Pathogenic variants in the polymerase γ gene (POLG) cause a diverse group of pathologies known as POLG-related disorders. In this report, we describe brain MR imaging findings and electroencephalogram correlates of 13 children with POLG-related disorders at diagnosis and follow-up. At diagnosis, all patients had seizures and 12 had abnormal MR imaging findings. The most common imaging findings were unilateral or bilateral perirolandic (54%) and unilateral or bilateral thalamic signal changes (77%). Association of epilepsia partialis continua with perirolandic and thalamic signal changes was present in 86% and 70% of the patients, respectively. The occipital lobe was affected in 2 patients. On follow-up, 92% of the patients had disease progression or fatal outcome. Rapid volume loss was seen in 77% of the patients. The occipital lobe (61%) and thalamus (61%) were the most affected brain regions. Perirolandic signal changes and seizures may represent a brain imaging biomarker of early-onset pediatric POLG-related disorders.


Assuntos
Encéfalo/diagnóstico por imagem , Doenças Mitocondriais/diagnóstico por imagem , Neuroimagem/métodos , Convulsões/diagnóstico por imagem , Convulsões/genética , Encéfalo/patologia , Criança , Pré-Escolar , DNA Polimerase gama/genética , Eletroencefalografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Doenças Mitocondriais/genética , Doenças Mitocondriais/patologia , Estudos Retrospectivos , Convulsões/patologia
12.
AJNR Am J Neuroradiol ; 39(11): 2126-2131, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30262641

RESUMO

BACKGROUND AND PURPOSE: Arg179His mutations in ACTA2 are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid arteries, and occlusive disease of the terminal internal carotid arteries. We now add to the distinctive neuroimaging features in these patients by describing their unique constellation of brain malformative findings that could flag the diagnosis in cases in which targeted cerebrovascular imaging has not been performed. MATERIALS AND METHODS: Neuroimaging studies from 13 patients with heterozygous Arg179His mutations in ACTA2 and 1 patient with pathognomonic clinicoradiologic findings for ACTA2 mutation were retrospectively reviewed. The presence and localization of brain malformations and other abnormal brain MR imaging findings are reported. RESULTS: Characteristics bending and hypoplasia of the anterior corpus callosum, apparent absence of the anterior gyrus cinguli, and radial frontal gyration were present in 100% of the patients; flattening of the pons on the midline and multiple indentations in the lateral surface of the pons were demonstrated in 93% of the patients; and apparent "squeezing" of the cerebral peduncles in 85% of the patients. CONCLUSIONS: Because α-actin is not expressed in the brain parenchyma, only in vascular tissue, we speculate that rather than a true malformative process, these findings represent a deformation of the brain during development related to the mechanical interaction with rigid arteries during the embryogenesis.


Assuntos
Actinas/genética , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Neuroimagem/métodos , Adulto , Feminino , Humanos , Masculino , Mutação , Fenótipo , Estudos Retrospectivos
13.
Sci Total Environ ; 634: 41-51, 2018 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-29626769

RESUMO

Road dust resuspension is one of the main sources of particulate matter with impacts on air quality, health and climate. With the aim of characterising the thoracic fraction, a portable resuspension chamber was used to collect road dust from five main roads in Oporto and an urban tunnel in Braga, north of Portugal. The PM10 samples were analysed for: i) carbonates by acidification and quantification of the evolved CO2, ii) carbonaceous content (OC and EC) by a thermo-optical technique, iii) elemental composition by ICP-MS and ICP-AES after acid digestion, and iv) organic speciation by GC-MS. Dust loadings of 0.48±0.39mgPM10m-2 were obtained for asphalt paved roads. A much higher mean value was achieved in a cobbled pavement (50mgPM10m-2). In general, carbonates were not detected in PM10. OC and EC accounted for PM10 mass fractions up to 11% and 5%, respectively. Metal oxides accounted for 29±7.5% of the PM10 mass from the asphalt paved roads and 73% in samples from the cobbled street. Crustal and anthropogenic elements, associated with tyre and brake wear, dominated the inorganic fraction. PM10 comprised hundreds of organic constituents, including hopanoids, n-alkanes and other aliphatics, polycyclic aromatic hydrocarbons (PAH), alcohols, sterols, various types of acids, glycerol derivatives, lactones, sugars and derivatives, phenolic compounds and plasticizers. In samples from the cobbled street, these organic classes represented only 439µgg-1PM10, while for other pavements mass fractions up to 65mgg-1PM10 were obtained. Except for the cobbled street, on average, about 40% of the analysed organic fraction was composed of plasticizers. Although the risk via inhalation of PAH was found to be insignificant, the PM10 from some roads can contribute to an estimated excess of 332 to 2183 per million new cancer cases in adults exposed via ingestion and dermal contact.

14.
J Environ Sci (China) ; 42: 246-258, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27090717

RESUMO

Interest in renewable energy sources has increased in recent years due to environmental concerns about global warming and air pollution, reduced costs and improved efficiency of technologies. Under the European Union (EU) energy directive, biomass is a suitable renewable source. The aim of this study was to experimentally quantify and characterize the emission of particulate matter (PM2.5) resulting from the combustion of two biomass fuels (chipped residual biomass from pine and eucalypt), in a pilot-scale bubbling fluidized bed (BFB) combustor under distinct operating conditions. The variables evaluated were the stoichiometry and, in the case of eucalypt, the leaching of the fuel. The CO and PM2.5 emission factors were lower when the stoichiometry used in the experiments was higher (0.33±0.1 g CO/kg and 16.8±1.0 mg PM2.5/kg, dry gases). The treatment of the fuel by leaching before its combustion has shown to promote higher PM2.5 emissions (55.2±2.5 mg/kg, as burned). Organic and elemental carbon represented 3.1 to 30 wt.% of the particle mass, while carbonate (CO3(2-)) accounted for between 2.3 and 8.5 wt.%. The particulate mass was mainly composed of inorganic matter (71% to 86% of the PM2.5 mass). Compared to residential stoves, BFB combustion generated very high mass fractions of inorganic elements. Chloride was the water soluble ion in higher concentration in the PM2.5 emitted by the combustion of eucalypt, while calcium was the dominant water soluble ion in the case of pine.


Assuntos
Poluentes Atmosféricos/análise , Monitoramento Ambiental , Eucalyptus , Incineração/métodos , Pinus
15.
Acta Otorhinolaryngol Ital ; 33(6): 393-7, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24376295

RESUMO

Benign tumours account for approximately 60-80% of parotid neoplasms and among these, Warthin's tumour is the second most common benign neoplasm accounting for approximately 15% of all parotid epithelial tumours. The medical records of 100 consecutive patients with Warthin's tumour of the parotid gland admitted for treatment at the Department of Head and Neck Surgery and Otorhinolaryngology, Hospital A.C. Camargo, São Paulo, Brazil, between 1983 and 2011 were retrospectively analyzed. The surgical procedures included 104 (96%) subtotal parotidectomies and 4 (3.7%) total parotidectomies. One hundred and eight parotidectomies were performed in 100 patients with Warthin's tumour. Postoperative complications occurred in 67 (62.3%) of surgical procedures, and facial nerve dysfunction was the most frequent complication, occurring in 51 of 108 surgeries (47.2%). The marginal mandibular branch of the facial nerve was affected in 46 of the 48 cases (95.8%) of facial nerve dysfunction. Frey's syndrome was diagnosed in the late postoperative period in 19 patients (17.6%). We conclude that either superficial or total parotidectomy with preservation of facial nerve are the treatment of choice for Warthin's tumour with no case of recurrence seen after long-term follow-up. Facial nerve dysfunction and Frey's syndrome were the main complications associated with this surgery. Thus, if on one hand total parotidectomy is an appropriate radical resection of parotid parenchyma reducing, in theory, the risk of recurrence, on the other hand superficial parotidectomy is also a radical and efficient method with lower morbidity in terms of facial nerve dysfunction and Frey's syndrome.


Assuntos
Adenolinfoma/cirurgia , Neoplasias Parotídeas/cirurgia , Adenolinfoma/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/epidemiologia , Neoplasias Parotídeas/diagnóstico , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos
16.
J Toxicol Environ Health A ; 75(22-23): 1371-80, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23095155

RESUMO

Previous studies performed by the National Aeronautics Space Administration (NASA) indicated that plants and associated soil microorganisms may be used to reduce indoor pollutant levels. This study investigated the ability of plants to improve indoor air quality in schools. A 9-wk intensive monitoring campaign of indoor and outdoor air pollution was carried out in 2011 in a primary school of Aveiro, Portugal. Measurements included temperature, carbon dioxide (CO2), carbon monoxide (CO), concentrations of volatile organic compounds (VOC), carbonyls, and particulate matter (PM10) without and with plants in a classroom. PM10 samples were analyzed for the water-soluble inorganic ions, as well for carbonaceous fractions. After 6 potted plants were hung from the ceiling, the mean CO2 concentration decreased from 2004 to 1121 ppm. The total VOC average concentrations in the indoor air during periods of occupancy without and with the presence of potted plants were, respectively, 933 and 249 µg/m³. The daily PM10 levels in the classroom during the occupancy periods were always higher than those outdoors. The presence of potted plants likely favored a decrease of approximately 30% in PM10 concentrations. Our findings corroborate the results of NASA studies suggesting that plants might improve indoor air and make interior breathing spaces healthier.


Assuntos
Poluição do Ar em Ambientes Fechados/prevenção & controle , Araceae/metabolismo , Biodegradação Ambiental , Dracaena/metabolismo , Instituições Acadêmicas , Poluentes Atmosféricos/análise , Poluentes Atmosféricos/metabolismo , Aldeídos/análise , Aldeídos/metabolismo , Araceae/crescimento & desenvolvimento , Dissulfeto de Carbono/análise , Dissulfeto de Carbono/metabolismo , Criança , Dracaena/crescimento & desenvolvimento , Monitoramento Ambiental , Humanos , Material Particulado/análise , Material Particulado/metabolismo , Portugal , Temperatura , Fatores de Tempo , Saúde da População Urbana , Compostos Orgânicos Voláteis/análise , Compostos Orgânicos Voláteis/metabolismo
17.
Environ Pollut ; 166: 172-81, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22512998

RESUMO

Polycyclic aromatic hydrocarbon (PAH) extracts of fine particles (PM(2.5)) collected from combustion of seven wood species and briquettes were tested for mutagenic activities using Ames test with Salmonella typhimurium TA98 and TA100. The woods were Pinus pinaster (maritime pine), Eucalyptus globulus (eucalypt), Quercus suber (cork oak), Acacia longifolia (golden wattle), Quercus faginea (Portuguese oak), Olea europea (olive), and Quercus ilex rotundifolia (Holm oak). Burning experiments were done using woodstove and fireplace, hot start and cold start conditions. A mutagenic response was recorded for all species except golden wattle, maritime pine, and briquettes. The mutagenic extracts were not correlated with high emission factors of carcinogenic PAHs. These extracts were obtained both from two burning appliances and start-up conditions. However, fireplace seemed to favour the occurrence of mutagenic emissions. The negative result recorded for golden wattle was interesting, in an ecological point of view, since after confirmation, this invasive species, can be recommended for domestic use.


Assuntos
Aerossóis/toxicidade , Poluentes Atmosféricos/toxicidade , Mutagênicos/toxicidade , Hidrocarbonetos Policíclicos Aromáticos/toxicidade , Aerossóis/análise , Poluentes Atmosféricos/análise , Eucalyptus , Incêndios , Incineração , Testes de Mutagenicidade , Mutagênicos/análise , Material Particulado/análise , Material Particulado/toxicidade , Pinus , Hidrocarbonetos Policíclicos Aromáticos/análise , Portugal , Salmonella typhimurium/efeitos dos fármacos , Madeira
18.
Oral Dis ; 18(6): 548-57, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22360145

RESUMO

OBJECTIVE: Keratocystic odontogenic tumors (KOTs) can be treated with Carnoy's solution, although this treatment modality is not free from complications. It is important to verify the incidence of complications after the use of Carnoy's solution and compare these with the literature. MATERIALS AND METHODS: This study verified the effects of a complementary treatment for KOTs and assessed the incidence of such complications as recurrence, infection, sequestrum formation, mandibular fracture, dehiscence, and neuropathy. RESULTS: Twenty-two KOTs treated with Carnoy's solution combined with peripheral ostectomy were included, and the follow-up period varied from 12 to 78months with a mean of 42.9months. Complications included recurrence (4.5%), dehiscence (22.7%), infection (4.5%), and paresthesia (18.2%). No difference was found among lesions associated (9.1%) or not (0%) with nevoid basal cell carcinoma syndrome (P>0.05). Dehiscence was influenced by marsupialization (P<0.05), and paresthesia was observed exclusively in cases of mandibular canal fenestration (P<0.01). CONCLUSIONS: Complementary treatment with Carnoy's solution and peripheral ostectomy appear to provide efficient treatment for KOTs. Complications originating from the use of the solution are less frequent and less serious than complications associated with cryotherapy. Neuropathy seems to be related to direct contact between the solution and the epineurium.


Assuntos
Ácido Acético/uso terapêutico , Clorofórmio/uso terapêutico , Etanol/uso terapêutico , Fixadores , Tumores Odontogênicos/tratamento farmacológico , Ácido Acético/efeitos adversos , Adolescente , Adulto , Idoso , Criança , Clorofórmio/efeitos adversos , Terapia Combinada , Etanol/efeitos adversos , Feminino , Fixadores/efeitos adversos , Seguimentos , Humanos , Masculino , Fraturas Mandibulares/etiologia , Neoplasias Mandibulares/tratamento farmacológico , Neoplasias Mandibulares/cirurgia , Nervo Mandibular/efeitos dos fármacos , Nervo Mandibular/fisiopatologia , Neoplasias Maxilares/tratamento farmacológico , Neoplasias Maxilares/cirurgia , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Tumores Odontogênicos/cirurgia , Osteotomia/efeitos adversos , Parestesia/etiologia , Complicações Pós-Operatórias , Estudos Retrospectivos , Deiscência da Ferida Operatória/etiologia , Infecção da Ferida Cirúrgica/etiologia , Sensação Térmica/fisiologia , Fatores de Tempo , Tato/fisiologia , Traumatismos do Nervo Trigêmeo/etiologia , Adulto Jovem
19.
J Environ Monit ; 13(11): 3196-206, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22027805

RESUMO

Smoke from residential wood burning has been identified as a major contributor to air pollution, motivating detailed emission measurements under controlled conditions. A series of experiments were performed to compare the emission levels from two types of wood-stoves to those of fireplaces. Eight types of biomass were burned in the laboratory: wood from seven species of trees grown in the Portuguese forest (Pinus pinaster, Eucalyptus globulus, Quercus suber, Acacia longifolia, Quercus faginea, Olea europaea and Quercus ilex rotundifolia) and briquettes produced from forest biomass waste. Average emission factors were in the ranges 27.5-99.2 g CO kg(-1), 552-1660 g CO(2) kg(-1), 0.66-1.34 g NO kg(-1), and 0.82-4.94 g hydrocarbons kg(-1) of biomass burned (dry basis). Average particle emission factors varied between 1.12 and 20.06 g kg(-1) biomass burned (dry basis), with higher burn rates producing significantly less particle mass per kg wood burned than the low burn rates. Particle mass emission factors from wood-stoves were lower than those from the fireplace. The average emission factors for organic and elemental carbon were in the intervals 0.24-10.1 and 0.18-0.68 g kg(-1) biomass burned (dry basis), respectively. The elemental carbon content of particles emitted from the energy-efficient "chimney type" logwood stove was substantially higher than in the conventional cast iron stove and fireplace, whereas the opposite was observed for the organic carbon fraction. Pinus pinaster, the only softwood species among all, was the biofuel with the lowest emissions of particles, CO, NO and hydrocarbons.


Assuntos
Poluentes Atmosféricos/análise , Poluição do Ar/análise , Biocombustíveis/análise , Carbono/análise , Calefação/métodos , Fumaça/análise , Madeira/química , Monitoramento Ambiental , Calefação/instrumentação , Portugal
20.
Rev Port Pneumol ; 17(3): 109-16, 2011.
Artigo em Português | MEDLINE | ID: mdl-21549669

RESUMO

AIMS: A cross-sectional study was carried out with the objective of identifying nutrition habits and housing conditions as risk factors for respiratory problems in schoolchildren in Lisbon. MATERIAL AND METHODS: Between October and December 2008, parents of 900 students of the basic schools of Lisbon were invited to answer a questionnaire of the International Study of Asthma and Allergies in Childhood Program (ISAAC). The response rate was 40%. Logistic regression was used in the analysis of results. RESULTS: The prevalence of asthma, allergic rhinitis and wheeze was 5.6%, 43.0% and 43.3%, respectively. Risk factors independently associated with asthma were wheezing attacks, and dry cough at night not related to common cold in the last 12 months. Wheezing crises were found to affect children daily activities. Risk factors for wheeze were hay fever and the presence of a pet at home. A risk factor for rhinitis was cough at night. The frequent consumption of egg was also associated with increased risk of rhinitis. CONCLUSION: Contrarily to asthma, the prevalence of allergic rhinitis and wheeze increased in comparison with previous ISAAC studies. Wheezing attacks were associated with asthma and hay fever was identified as a risk factor of manifesting wheezing symptoms. Having pets at home was pointed out as a significant risk factor for rhinitis, but not smoking exposure, mould, plush toys, diet (except egg consumption), breastfeeding or other conditions.


Assuntos
Asma/epidemiologia , Rinite/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Portugal , Prevalência , Fatores de Risco , Saúde da População Urbana
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