Clinical, Pathological, and Surgical Outcomes for Adult Pineoblastomas

Introduction Pineoblastomas are uncommon primitive neuroectodermal tumors that occur mostly in children; they are exceedingly rare in adults. Few published reports have compared the various aspects of these tumors between adults and children. Methods The authors report a series of 12 pineoblastomas in adults from 2 institutions over 24 years. The clinical, radiologic, and pathologic features and clinical outcomes were compared with previously reported cases in children and adults. Results Patient age ranged from 24 to 81 years, and all but 1 patient exhibited symptoms of obstructive hydrocephalus. Three patients underwent gross total resection, and subtotal resection was performed in 3 patients. Diagnostic biopsy specimens were obtained in an additional 6 patients. Pathologically, the tumors had the classical morphologic and immunohistochemical features of pineoblastomas. Postoperatively, 10 patients received radiotherapy, and 5 patients received chemotherapy. Compared with previously reported cases, several differences were noted in clinical outcomes. Of the 12 patients, only 5 (42%) died of their disease (average length of survival, 118 months); 5 patients (42%) are alive with no evidence of disease (average length of follow-up, 92 months). One patient died of unrelated causes, and one was lost to follow-up. Patients with subtotal resections or diagnostic biopsies did not suffer a worse prognosis. Of the 9 patients with biopsy or subtotal resection, 4 are alive, 4 died of their disease, and 1 died of an unrelated hemorrhagic cerebral infarction. Conclusions Although this series is small, the data suggest that pineoblastomas in adults have a less aggressive clinical course than in children

Kinematics of electrons near a Van Hove singularity

A two dimensional electronic system, where the Fermi surface is close to a Van Hove singularity, shows a variety of weak coupling instabilities, and it is a convenient model to study the interplay between antiferromagnetism and anisotropic superconductivity. We present a detailed analysis of the kinematics of the electron scattering in this model. The similitudes, and differences, between a standard Renormalization Group approach and previous work based on parquet summations of log$^2$ divergences are analyzed, with emphasis on the underlying physical processes. General properties of the phase diagram are discussed.Comment: 5 pages, 3 postscript figure

Stochastic Simulations Of Calcium Contents In Sugarcane Area

The aim of this study was to quantify and to map the spatial distribution and uncertainty of soil calcium (Ca) content in a sugarcane area by sequential Gaussian and simulated-annealing simulation methods. The study was conducted in the municipality of Guariba, northeast of the Sao Paulo state. A sampling grid with 206 points separated by a distance of 50 m was established, totaling approximately 42 ha. The calcium contents were evaluated in layer of 0-0.20 m. Techniques of geostatistical estimation, ordinary kriging and stochastic simulations were used. The technique of ordinary kriging does not reproduce satisfactorily the global statistics of the Ca contents. The use of simulation techniques allows reproducing the spatial variability pattern of Ca contents. The techniques of sequential Gaussian simulation and simulated annealing showed significant variations in the contents of Ca in the small scale.19876777

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here we have undertaken a detailed clinical study of 55 individuals with de novoDNMT3A variants, including the 13 previously reported individuals. An intellectual disability and overgrowth were reported in >80% of individuals with TBRS and were designated major clinical associations. Additional frequent clinical associations (reported in 20-80% individuals) included an evolving facial appearance with low-set, heavy, horizontal eyebrows and prominent upper central incisors; joint hypermobility (74%); obesity (weight ³2SD, 67%); hypotonia (54%); behavioural/psychiatric issues (most frequently autistic spectrum disorder, 51%); kyphoscoliosis (33%) and afebrile seizures (22%). One individual was diagnosed with acute myeloid leukaemia in teenage years. Based upon the results from this study, we present our current management for individuals with TBRS

Travelers With Cutaneous Leishmaniasis Cured Without Systemic Therapy

Guidelines recommend wound care and/or local therapy as first-line treatment for cutaneous leishmaniasis. An analysis of a referral treatment program in 135 travelers showed that this approach was feasible in 62% of patients, with positive outcome in 83% of evaluable patient

Attitude and Performance in Mathematics I of Bachelor of Elementary Education Students: A Correlational Analysis

This paper determines the relationship between attitude and performance in Mathematics of 105 Bachelor of Elementary Education (BEEd) freshman students by using correlational research with the questionnaire as the main instrument. The study found that the performance in Mathematics I of the respondents was below average. Their attitudes are significantly correlated with their performance in Mathematics I. The higher their positive attitude, the higher their performance (r=.792**, p<0.01), whereas the higher their negative attitude the lower their performance (r= -.940**, p<0.01). Further, the respondents believe that working with Mathematics problems will make them better critical thinkers and they assume that they have more chance of becoming successful in life if they are good in Mathematics. However, the respondents consider Mathematics as the most difficult subject. They were scared of Mathematics problems and easily give up with answering when they cannot solve them. The overall result revealed that the respondents exhibit negative attitude towards Mathematics. The significant findings of this study provide valuable information for Mathematics teachers, administrators and curriculum planners to enhance policies and pedagogies relating to Mathematics instruction

Oral Ondansetron Administration in Emergency Departments to Children with Gastroenteritis: An Economic Analysis

Stephen Freedman and colleagues performed a cost analysis of the routine administration of ondansetron in both the United States and Canada and show that its routine administration to eligible children in such settings could provide substantial benefit

Primrose syndrome: Characterization of the phenotype in 42 patients

Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more recognizable with age. We present 13 hitherto unpublished individuals and summarize the clinical and molecular findings in all 42 patients. Several signs and symptoms of PS develop during childhood, but the cardinal features, such as calcification of the external ears, cystic bone lesions, muscle wasting, and contractures typically develop between 10 and 16 years of age. Biochemically, anemia and increased alpha-fetoprotein levels are often present. Two adult males with PS developed a testicular tumor. Although PS should be regarded as a progressive entity, there are no indications that cognition becomes more impaired with age. No obvious genotype-phenotype correlation is present. A subgroup of patients with ZBTB20 variants may be associated with mild, nonspecific ID. Metabolic investigations suggest a disturbed mitochondrial fatty acid oxidation. We suggest a regular surveillance in all adult males with PS until it is clear whether or not there is a truly elevated risk of testicular cancer.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.published version, accepted version (12 month embargo) submitted versio

Magnetic susceptibility in the prediction of soil attributes in two sugarcane harvesting management systems

This study aimed to investigate the potential use of magnetic susceptibility (MS) as pedotransfer function to predict soil attributes under two sugarcane harvesting management systems. For each area of 1 ha (one with green sugarcane mechanized harvesting and other one with burnt sugarcane manual harvesting), 126 soil samples were collected and subjected to laboratory analysis to determine soil physical, chemical and mineralogical attributes and for measuring of MS. Data were submitted to descriptive statistics by calculating the mean and coefficient of variation. In order to compare the means in the different harvesting management systems it was carried out the Tukey test at a significance level of 5%. In order to investigate the correlation of the MS with other soil properties it was made the correlation test and aiming to assess how the MS contributes to the prediction of soil complex attributes it was made the multiple linear regressions. The results demonstrate that MS showed, in both sugarcane harvesting management systems, statistical correlation with chemical, physical and mineralogical soil attributes and it also showed potential to be used as pedotransfer function to predict attributes of the studied oxisol.O presente trabalho teve como objetivo investigar o potencial de uso da suscetibilidade magnética (SM) como componente da função de pedotransferência para predição de atributos do solo, sob dois sistemas de manejo na colheita de cana-de-açúcar. Para cada uma das duas áreas de 1 ha (uma com colheita mecanizada de cana crua e outra com colheita manual de cana queimada), foram coletadas 126 amostras de solo que foram submetidas às análises de laboratório, para determinação dos atributos físicos, químicos e mineralógicos do solo e para medição da SM. Os dados foram submetidos à estatística descritiva, calculando-se a média e o coeficiente de variação. Para comparar as médias nos diferentes sistemas de manejo, foi realizado o teste de Tukey, ao nível de significância de 5%. Foram realizados o teste de correlação simples para averiguar a correlação da SM com outros atributos do solo e a regressão múltipla linear a fim de avaliar o quanto a SM contribui para a predição de atributos complexos do solo. Os resultados demonstram que a SM apresentou, em ambos os sistemas de manejo de colheita da cana-de-açúcar, correlação estatística com atributos químicos, físicos e mineralógicos do solo e apresentou potencial para ser utilizada como componente da função de pedotransferência para predição de atributos do Latossolo estudado.UNESP FCAVUNESP FCAV Dpto. de Ciências ExatasUNESP FCAVUNESP FCAV Dpto. de Ciências Exata

Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Background: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual dermatoglyphic patterns with prominent fingertip pads. A 3.5 Mb duplication at 8p23.1-p22 was once reported as a specific alteration in KS but has not been confirmed in other patients. The molecular basis of KS remains unknown. Methods: We have studied 16 Spanish patients with a clinical diagnosis of KS or KS-like to search for genomic imbalances using genome-wide array technologies. All putative rearrangements were confirmed by FISH, microsatellite markers and/or MLPA assays, which also determined whether the imbalance was de novo or inherited. Results: No duplication at 8p23.1-p22 was observed in our patients. We detected complex rearrangements involving 2q in two patients with Kabuki-like features: 1) a de novo inverted duplication of 11 Mb with a 4.5 Mb terminal deletion, and 2) a de novo 7.2 Mb-terminal deletion in a patient with an additional de novo 0.5 Mb interstitial deletion in 16p. Additional copy number variations (CNV), either inherited or reported in normal controls, were identified and interpreted as polymorphic variants. No specific CNV was significantly increased in the KS group. Conclusion: Our results further confirmed that genomic duplications of 8p23 region are not a common cause of KS and failed to detect other recurrent rearrangement causing this disorder. The detection of two patients with 2q37 deletions suggests that there is a phenotypic overlap between the two conditions, and screening this region in the Kabuki-like patients should be considered.This work was funded by grants from the Spanish Ministry of Health (FIS PI042063), Genome Spain and the European Commission (FP6-2005-037627). IC was supported by a Juan de la Cierva Postdoctoral fellowship