Superstatistical and DNA sequence coding of the human genome.

In this work, by considering superstatistics we investigate the short-range correlations (SRCs) and the fluctuations in the distribution of lengths of strings of nucleotides. To this end, a stochastic model provides the distributions of the size of the exons based on the q-Gamma and inverse q-Gamma distributions. Specifically, we define a time series for exon sizes to investigate the SRC and the fluctuations through the superstatistics distributions. To test the model's viability, we use the Project Ensembl database of genes to extract the time evolution of exon sizes, calculated in terms of the number of base pairs (bp) in these biological databases. Our findings show that, depending on the chromosome, both distributions are suitable for describing the length distribution of human DNA for lengths greater than 10 bp. In addition, we used Bayesian statistics to perform a selection model approach, which revealed weak evidence for the inverse q-Gamma distribution for a considerable number of chromosomes.

Analysis of human DNA through power-law statistics.

We report an analysis of Homo sapiens DNA through the formalism of κ statistics, which encompasses power-law correlations and provides an optimization principle that permits us to model distinct physical systems; i.e., the power-law distribution of the length of DNA bases is calculated from a general model which follows arguments similar to those proposed in Maxwell's deduction of statistical distributions. The viability of the model is tested using a data set from a catalog of proteins collected from the Ensembl Project. The results indicate that the short-range correlations, always present in coding DNA sequences, are appropriately captured through the Kaniadakis power-law distribution, adequately describing the cumulative length distribution of DNA bases, in contrast with the case of the traditional exponential statistical model.

Proton MR spectroscopy and imaging of a galactosemic patient before and after dietary treatment.

We describe how proton MR spectroscopy ((1)H-MR spectroscopy) was useful in elucidating the diagnosis of galactosemia in an undiagnosed 6-month-old infant. In vivo (1)H-MR spectroscopy of the brain showed a doublet at 3.7 parts per million, which was identified as galactitol (Gal-ol) by in vitro (1)H-MR spectroscopy of the urine. Galactosemia was subsequently confirmed by laboratory tests and treatment was initiated. A follow-up brain MR imaging and (1)H-MR spectroscopy study revealed resolution of white matter lesions and disappearance of Gal-ol peaks.

Comparison of conventional Papanicolaou cytology samples with liquid-based cervical cytology samples from women in Pernambuco, Brazil.

In the present study, we compared the performance of a ThinPrep cytological method with the conventional Papanicolaou test for diagnosis of cytopathological changes, with regard to unsatisfactory results achieved at the Central Public Health Laboratory of the State of Pernambuco. A population-based, cross-sectional study was performed with women aged 18 to 65 years, who spontaneously sought gynecological services in Public Health Units in the State of Pernambuco, Northeast Brazil, between April and November 2011. All patients in the study were given a standardized questionnaire on sociodemographics, sexual characteristics, reproductive practices, and habits. A total of 525 patients were assessed by the two methods (11.05% were under the age of 25 years, 30.86% were single, 4.4% had had more than 5 sexual partners, 44% were not using contraception, 38.85% were users of alcohol, 24.38% were smokers, 3.24% had consumed drugs previously, 42.01% had gynecological complaints, and 12.19% had an early history of sexually transmitted diseases). The two methods showed poor correlation (k=0.19; 95%CI=0.11-0.26; P<0.001). The ThinPrep method reduced the rate of unsatisfactory results from 4.38% to 1.71% (χ2=5.28; P=0.02), and the number of cytopathological changes diagnosed increased from 2.47% to 3.04%. This study confirmed that adopting the ThinPrep method for diagnosis of cervical cytological samples was an improvement over the conventional method. Furthermore, this method may reduce possible losses from cytological resampling and reduce obstacles to patient follow-up, improving the quality of the public health system in the State of Pernambuco, Northeast Brazil.

Leukoencephalopathy, cerebral calcifications, and cysts: new observations.

We describe three cases of the rare syndrome of leukoencephalopathy, brain calcifications, and cysts. Conventional MRI, proton spectroscopy, and diffusion-weighted imaging yielded additional information on the disease. Imaging findings favor increased water content rather than a demyelinating process in the pathophysiology of this disease. Clinical features of Coats disease and consanguinity were also encountered.