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Biomedical subjects

M Burroni

Publications and source records attributed to M Burroni.

11 recordsLinked to original sources

Intraobserver agreement in interpretation of digital epiluminescence microscopy.

BACKGROUND: Although a major problem with the classification of epiluminescence microscopy (ELM) findings is the lack of standard definitions, reproducibility of the criteria proposed has never been investigated. OBJECTIVES: Our purposes were (1) to perform a review of four major published classifications to obtain a set of apparently well-defined ELM variables and descriptors and (2) to evaluate the ability of one of us to report consistently ELM findings in melanocytic lesions according to these criteria. METHODS: Intraobserver agreement (with a set of 44 selected descriptors) between two readings of 150 digital ELM images was evaluated with the kappa (kappa) statistic. Subgroups of descriptors were compared for kappa value distribution. RESULTS: The median kappa value for the whole series of descriptors was 0.66. Median kappa did not vary significantly among the four classification systems (kappa = 0.61 to 0.67). Agreement was significantly better as to the presence or absence of ELM findings (kappa range, 0.39 to 1.00; median kappa, 0.77) compared with agreement as to their distribution (kappa range, 0.10 to 0.79; median kappa, 0.47; p = 0.0007) and their width, thickness, and size (kappa range, 0.06 to 0.83; median kappa, 0.39; p = 0.0075). CONCLUSION: Although nothing can be inferred from a single study, descriptors associated with low intraobserver agreement are likely to be inadequately defined.

Humans

Characterization of phenylketonuria alleles in the Italian population.

In order to identify the molecular basis of phenylketonuria (PKU) in Italy, we screened the entire coding sequence of the phenylalanine hydroxylase gene in 20 Italian PKU patients, whose origins are scattered throughout Italy. The frequency of each identified mutation and of 5 other European mutations was determined within a panel of 92 Italian PKU patients. This approach allowed us to identify 20 different PKU mutations and characterize 64% of the Italian PKU chromosomes. Eleven mutations (IVS10nt546, L48S, R158Q, R261Q, P281L, R261X, R252W, delta T55, IVS7nt1, IVS12nt1, Y414C) represent 55.4% of the Italian PKU alleles, the most common mutations being IVS10nt546 (12.4%) and L48S (9%). All the other mutations are very rare. These data confirm the great heterogeneity expected from previous RFLP haplotype studies. Genotype/phenotype correlation allowed for assessment of the clinical impact of the 20 identified mutations.

Alleles

Breathing disorders in males with acquired encephalopathy.

Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tachypnea and O2 desaturation were observed only during wakefulness. The analogy of these patterns with those of genetic syndromes such as familial encephalopathy and the Rett syndrome led us to postulate the aspecificity of this finding and the importance of further studies to elucidate the role of impaired behavioural and automatic breathing system control.

Apnea

[Frontal vertebral cleft in the newborn].

In the newborn and foetus in the last months of gestation it is possible to see in lateral radiography of the spine, a longitudinal radiotransparent band which may divide the bone nucleus of the vertebral body into two portions. This front vertebral separation should be considered an expression of a reversible abnormality rather than a malformation to the extent that it almost always concerns a differentiation delay in the vertebral structures. The literature and personal cases show, in fact, that the finding disappears more or less rapidly.

Diagnosis, Differential

A case of "g 2 deletion syndrome": ring or partial monosomy? (46,XX,22r or 46,XX,22p- ?).

A case of "G2 Deletion Syndrome" is reported, based on concordant cytogenetic, clinical and dermatoglyphic findings. The definition if the syndrome, as associated with either a ring or a partially deleted chromosome 22, is discussed. The resulting interpretation favours the hypotheses of deletion of the short arm extending into the centromere.

Chromosome Aberrations