Linfangioma cístico congênito

Os autores apresentaram um caso de linfangioma cístico congênito, localizado na região axilar esquerda e porção lateral correspondente do torax, em menina de 19 meses de idade, cujo tratamento cirúrgico teve pleno êxito. O tumor existia desde o nascimento, a sua estrutura histológica correspondendo à de linfangioma cístico, associada à de linfangioma cavernoso.

Genetics of Parkinson disease and essential tremor.

Purpose of review: Elucidating the genetic background of Parkinson disease and essential tremor is crucial to understand the pathogenesis and improve diagnostic and therapeutic strategies. Recent findings: A number of approaches have been applied including familial and association studies, and studies of gene expression profiles to identify genes involved in susceptibility to Parkinson disease. These studies have nominated a number of candidate Parkinson disease genes and novel loci including Omi/HtrA2, GIGYF2, FGF20, PDXK, EIF4G1 and PARK16. A recent notable finding has been the confirmation for the role of heterozygous mutations in glucocerebrosidase (GBA) as risk factors for Parkinson disease. Finally, association studies have nominated genetic variation in the leucine-rich repeat and Ig containing 1 gene (LINGO1) as a risk for both Parkinson disease and essential tremor, providing the first genetic evidence of a link between the two conditions. Summary: Although undoubtedly genes remain to be identified, considerable progress has been achieved in the understanding of the genetic basis of Parkinson disease. This same effort is now required for essential tremor. The use of next-generation high-throughput sequencing and genotyping technologies will help pave the way for future insight leading to advances in diagnosis, prevention and cure.

Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome.

Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset movement disorder affecting FMR1 premutation carriers, is associated with cerebral and cerebellar lesions. The aim of this study was to test whether computational anatomy can detect similar patterns in asymptomatic FMR1 premutation carriers (mean age 46.7 years) with qualitatively normal -appearing grey and white matter on brain MRI. We used a multimodal imaging protocol to characterize brain anatomy by automated assessment of gray matter volume and white matter properties. Structural changes in the hippocampus and in the cerebellar motor network with decreased gray matter volume in lobule VI and white matter alterations of the corresponding afferent projections through the middle cerebellar peduncles are demonstrated. Diffuse subcortical white matter changes in both hemispheres, without corresponding gray matter alterations, are only identified through age × group interactions. We interpret the hippocampal fimbria and cerebellar changes as early alterations with a possible neurodevelopmental origin. In contrast, progression of the diffuse cerebral hemispheric white matter changes suggests a neurodegenerative process, leading to late-onset lesions, which may mark the imminent onset of FXTAS.

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease.

Genetic variation in the leucine-rich repeat and Ig domain containing 1 gene (LINGO1) was recently associated with an increased risk of developing essential tremor (ET) and Parkinson disease (PD). Herein, we performed a comprehensive study of LINGO1 and its paralog LINGO2 in ET and PD by sequencing both genes in patients (ET, n=95; PD, n=96) and by examining haplotype-tagging single-nucleotide polymorphisms (tSNPs) in a multicenter North American series of patients (ET, n=1,247; PD, n= 633) and controls (n=642). The sequencing study identified six novel coding variants in LINGO1 (p.S4C, p.V107M, p.A277T, p.R423R, p.G537A, p.D610D) and three in LINGO2 (p.D135D, p.P217P, p.V565V), however segregation analysis did not support pathogenicity. The association study employed 16 tSNPs at the LINGO1 locus and 21 at the LINGO2 locus. One variant in LINGO1 (rs9652490) displayed evidence of an association with ET (odds ratio (OR) =0.63; P=0.026) and PD (OR=0.54; P=0.016). Additionally, four other tSNPs in LINGO1 and one in LINGO2 were associated with ET and one tSNP in LINGO2 associated with PD (P<0.05). Further analysis identified one tSNP in LINGO1 and two in LINGO2 which influenced age at onset of ET and two tSNPs in LINGO1 which altered age at onset of PD (P<0.05). Our results support a role for LINGO1 and LINGO2 in determining risk for and perhaps age at onset of ET and PD. Further studies are warranted to confirm these findings and to determine the pathogenic mechanisms involved.

Improved earthquake response via simulation and integrated space- and ground-based technologies: the TREMOR proposal

Earthquakes occurring around the world each year cause thousands ofdeaths, millions of dollars in damage to infrastructure, and incalculablehuman suffering. In recent years, satellite technology has been asignificant boon to response efforts following an earthquake and itsafter-effects by providing mobile communications between response teamsand remote sensing of damaged areas to disaster management organizations.In 2007, an international team of students and professionals assembledduring theInternational Space University’s Summer Session Program in Beijing, Chinato examine how satellite and ground-based technology could be betterintegrated to provide an optimised response in the event of an earthquake.The resulting Technology Resources for Earthquake MOnitoring and Response(TREMOR) proposal describes an integrative prototype response system thatwill implement mobile satellite communication hubs providing telephone anddata links between response teams, onsite telemedicine consultation foremergency first-responders, and satellite navigation systems that willlocate and track emergency vehicles and guide search-and-rescue crews. Aprototype earthquake simulation system is also proposed, integratinghistorical data, earthquake precursor data, and local geomatics andinfrastructure information to predict the damage that could occur in theevent of an earthquake. The backbone of these proposals is a comprehensiveeducation and training program to help individuals, communities andgovernments prepare in advance. The TREMOR team recommends thecoordination of these efforts through a centralised, non-governmentalorganization.

Genetics of essential tremor.

Essential tremor (ET) is a prevalent condition manifesting with progressive action tremor. Although ET was traditionally viewed as a sporadic disease, a significant proportion of cases report a positive family history of tremor. Autosomal dominant inheritance can be demonstrated in many families. Previously, genome-wide linkage studies in families mapped three loci for ET, hereditary essential tremor-1 (ETM1), ETM2 and ETM3. However, no causal mutation has been replicated in candidate genes within these loci, including dopamine D3 receptor (DRD3) and HS1-binding protein 3 (HS1BP3). Recently, the first genome-wide association study in ET followed by replication studies conducted in diverse populations identified a significant association between the leucine-rich repeat and Ig domain containing 1 gene (LINGO1) SNP rs9652490 and risk for ET Although further novel variants were indentified in LINGO1 and its paralog LINGO2 that may be associated with risk for ET, the pathogenic mechanisms involved remain elusive. Given the possibility that ET as a complex trait may be influenced by the combined effects of rare variants, novel high-throughput technologies sequencing all exons across the genome (exome sequencing) or the whole genome (genome sequencing) may become crucial in understanding/deciphering the genetic background of ET.

Propranolol as an adjunct therapy for hyperthyroid tremor.

We evaluated the use of propranolol as an adjunct to carbimazole in the treatment of hyperthyroid tremor and tachycardia in a double-blind, cross-over and placebo-controlled study. Seven patients were given carbimazole plus either placebo or propranolol (40 mg) for 1 month and then switched to the alternative adjunct treatment for a further month. All patients showed significant improvements (p < 0.001) of heart rate and tremor amplitude after 1 or 2 months from baseline. One month after the baseline, the mean improvements of heart rate were 23% for the carbimazole + placebo group and 38% for carbimazole + propranolol group. Tremor also improved during the 1st month of the study by 31% in the carbimazole + placebo group versus 59% in the carbimazole + propranolol group. Whereas further improvements were observed in both variables in those receiving propranolol as the second adjunct treatment, this was not the case in those who received placebo during the same period. These findings confirm that the beta-blocker propranolol is a useful adjunct in the early treatment of both the tremor and tachycardia of hyperthyroidism.

Bionomia dos estágios imaturos de duas espécies de Peckia (Diptera, Sarcophagidae) em suíno em decomposição em área de floresta no norte do Brasil

Descreveu-se a duração dos estádios larvais de Peckia (Pattonella) smarti (Lopes 1941) e Peckia (Pattonella) pallidipilosa (Curran & Walley 1934) obtidos em suínos em decomposição na natureza durante as estações chuvosa e seca na Reserva Florestal Adolpho Ducke, Manaus, Amazonas. As larvas foram colocadas em recipientes com serragem úmida e carne suína com 12 horas de decomposição para puparem. Os recipientes com as larvas foram mantidos em viveiro próximo ao local de coleta. A idenficação foi baseada nos adultos e posteriormente foram correlacionados com as larvas. O período de larva até a emergência dos adultos, na estação chuvosa, foi de 17,93 dias para P. smarti e 15,87 dias para P. pallidipilosa. Na estação seca foi de 16,05 dias para P. smarti e 15,96 dias para P. pallidipilosa. Peckia smarti e P. pallidipilosa estão sendo registradas pela primeira vez para o Estado do Amazonas e para o Brasil, respectivamente.

Influência de adições sucessivas de zinco, na forma de esterco suíno ou de óxido, no rendimento de matéria seca de milho

Em Santa Catarina, significativa porção dos dejetos das produções confinadas de suínos ainda está sendo jogada nos rios e córregos. Ao invés de poluentes, esses materiais poderiam ser utilizados como fertilizantes do solo, mas o uso contínuo de grandes quantidades pode ocasionar fitotoxidez de alguns nutrientes bem como poluir as águas superficiais e subterrâneas. O presente trabalho objetivou avaliar o rendimento de matéria seca de milho, decorrente da adição de quantidades crescentes e cumulativas de Zn ao solo, aplicadas na forma de ZnO ou de dejetos de suínos (alimentados com ração enriquecida com zinco). Foram realizados três cultivos sucessivos com 30 dias cada, em casa de vegetação, em vasos com 5,0 kg (base seca) de um Latossolo, que continha 590 g kg-1 de argila e pH 5,9. As doses de Zn utilizadas equivaleram a 0; 6,25; 12,5; 25 e 50 mg kg-1 de solo e foram aplicadas antes de cada cultivo. Determinaram-se a matéria seca da parte aérea, o Zn no solo, extraído com HCl 0,1 mol L-1, e a concentração e o acúmulo de Zn no tecido vegetal. A concentração de Zn no solo e nas plantas, assim como a quantidade de Zn absorvido, aumentou com o aumento da dose e com as reaplicações desse nutriente, tendo sido o teor de Zn no solo maior nos tratamentos com esterco suíno do que com ZnO. O rendimento de matéria seca não foi afetado pela aplicação de nenhuma das fontes de Zn, em qualquer cultivo. A adição cumulativa de até 150 mg kg-1 de Zn de solo elevou o teor de Zn no solo e na planta para valores superiores a 160 e 250 mg kg-1, respectivamente, e mesmo assim não ocasionou toxidez desse nutriente ao milho em seu estádio inicial de crescimento, mostrando que a amplitude entre suficiência e toxidez de Zn é ampla nesse solo.

Thalamic connectivity in patients with essential tremor treated with MR imaging-guided focused ultrasound: in vivo fiber tracking by using diffusion-tensor MR imaging.

PURPOSE: To use diffusion-tensor (DT) magnetic resonance (MR) imaging in patients with essential tremor who were treated with transcranial MR imaging-guided focused ultrasound lesion inducement to identify the structural connectivity of the ventralis intermedius nucleus of the thalamus and determine how DT imaging changes correlated with tremor changes after lesion inducement. MATERIALS AND METHODS: With institutional review board approval, and with prospective informed consent, 15 patients with medication-refractory essential tremor were enrolled in a HIPAA-compliant pilot study and were treated with transcranial MR imaging-guided focused ultrasound surgery targeting the ventralis intermedius nucleus of the thalamus contralateral to their dominant hand. Fourteen patients were ultimately included. DT MR imaging studies at 3.0 T were performed preoperatively and 24 hours, 1 week, 1 month, and 3 months after the procedure. Fractional anisotropy (FA) maps were calculated from the DT imaging data sets for all time points in all patients. Voxels where FA consistently decreased over time were identified, and FA change in these voxels was correlated with clinical changes in tremor over the same period by using Pearson correlation. RESULTS: Ipsilateral brain structures that showed prespecified negative correlation values of FA over time of -0.5 or less included the pre- and postcentral subcortical white matter in the hand knob area; the region of the corticospinal tract in the centrum semiovale, in the posterior limb of the internal capsule, and in the cerebral peduncle; the thalamus; the region of the red nucleus; the location of the central tegmental tract; and the region of the inferior olive. The contralateral middle cerebellar peduncle and bilateral portions of the superior vermis also showed persistent decrease in FA over time. There was strong correlation between decrease in FA and clinical improvement in hand tremor 3 months after lesion inducement (P < .001). CONCLUSION: DT MR imaging after MR imaging-guided focused ultrasound thalamotomy depicts changes in specific brain structures. The magnitude of the DT imaging changes after thalamic lesion inducement correlates with the degree of clinical improvement in essential tremor.

Disponibilidade de macronutrientes e rendimento de milho em latossolo fertilizado com dejeto suíno

Visando estimar a dose adequada de dejeto suíno (DS) em lavoura de milho cultivado sob plantio direto, conduziu-se por 10 anos um experimento em campo, onde foram avaliados os atributos químicos do solo e o rendimento da cultura em resposta a aplicações anuais dos tratamentos: DS nas doses de 0, 25, 50, 100 e 200 m³ ha-1; adubo solúvel (AS); e DS mais adubo solúvel (DS+AS). O DS não alterou o pH do solo, porém, em doses a partir de 100 m³ ha-1, aumentou os teores de Ca+2 e de P e K do solo, na camada de 0-5 cm, e diminuiu o teor de Al+3 na camada de 20-40 cm. Na camada de 0-5 cm, o AS diminuiu o pH e aumentou o teor de Al3+ no solo em relação aos demais tratamentos. O rendimento médio anual de milho respondeu às doses de DS seguindo o modelo quadrático, no qual a dose de 84 m³ ha-1 possibilitou a obtenção de 90 % do valor máximo. O DS aplicado anualmente na superfície do solo não altera o pH, mas em doses maiores que 50 m³ ha-1, em geral, aumenta a disponibilidade de nutrientes nos 5 cm superficiais do solo.