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Biomedical subjects

M A Mazzei

Publications and source records attributed to M A Mazzei.

6 recordsLinked to original sources

Three-dimensional analysis of pulmonary nodules by MSCT with Advanced Lung Analysis (ALA1) software.

PURPOSE: The purpose of this study was to test the reproducibility of the three-dimensional (3D) Advanced Lung Analysis software (3D-ALA, GE Healthcare) in the estimation of pulmonary nodule volume. MATERIALS AND METHODS: We retrospectively reviewed the unenhanced multislice CT scans (Lightspeed Pro 16 GE) of 77 patients with a solitary pulmonary nodule (n=71) or metastatic pulmonary disease (n=6). A total of 103 pulmonary nodules (19 well-circumscribed, 45 juxtavascular and 39 juxtapleural) were analysed grouped into five classes based on diameter: <5 mm, 10 nodules (9.7%); >or=5 to <10 mm, 25 nodules (24.2%); >or=10 mm to <15 mm, 41 nodules (39.8%); >or=5 to <18 mm, 14 nodules (13.6% ); >or=8 to <30 mm, 13 nodules (12.62%). The following acquisition parameters were used: slice thickness 0.625 mm, reconstruction interval 0.4 mm, pitch 0.562:1, 140 kV, 300 mAs, field of view 13 cm, bone kernel. For each of the 103 nodules three, 3D volume measurements were obtained by the 3D-ALA software. The reproducibility of nodule segmentation was evaluated according to a visual score (1=optimal, >or=95%; 2=fair, 90-95%; 3=poor, 0.05). CONCLUSIONS: Three-dimensional volume measurement with ALARiassunto 1 software is reproducible for all nodules as regards dimension and site. ALA-1 software provided a good and reproducible volume measurement in well-circumscribed and most juxtavascular nodules. Volumetric evaluation and reproducibility of volume estimation in juxtapleural pulmonary nodules, particularly those adjacent to diaphragmatic pleura, is inadequate, and software improvement is needed.

Aged↗

Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.

We report a 30-year-old woman with hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy (DRE, Lennox-Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia. To the best of our knowledge, this patient has an unusual combination of symptoms not previously described, associated with severe central nervous system dysfunction. The ectodermal defects were present in a very intriguing form, were difficult to diagnose, and did not conform to any classification or previous description.

Adult↗

18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.

The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.

Abnormalities, Multiple↗