The unreliability of metacarpo-phalangeal profile (MPP) in the diagnosis of achondroplasia.
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Biomedical subjects
Publications and source records attributed to R Pallotta.
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Cytogenetic studies in four patients affected by Incontinentia pigmenti and in their relatives did not show a significant increase of chromatid and chromosome gaps and breaks. This seems to negate a correlation between these findings and the disease. We propose that the responsibility for the chromosomal breakages sometimes observed in this syndrome can be due to external factors that disturb the basal percentage of the lesions.
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Mandibuloacral Dysplasia would appear to be a very rare syndrome, probably because it is usually mistakenly diagnosed. This article describes the case histories of two brothers, confirming Welsh's (1975) earlier hypothesis concerning autosomal recessive inheritance and makes certain observations which should be helpful in diagnosing this rare hereditary syndrome.
A syndrome with true anophthalmia, facial anomalies, hand and foot defects and mental retardation, has been observed in three patients. This syndrome is different from the Lenz syndrome, which includes microphthalmia or anophthalmia with narrow shoulders, double thumbs, skeletal abnormalities such as clavicle thinning, dental, cardiovascular and urogenital malformations without mental retardation.
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After a review of theories on the aetiopathogenesis of multiple sclerosis and the theoretical basis of present day therapy of the disease, the known results of general hyperbaric oxygen treatment are listed. A detailed description of the therapeutic action of hyperbaric oxygen therapy (HOT) in multiple sclerosis and the biological theory behind the treatment follows. Finally the results obtained on 1000 patients treated in the 1977-81 period are reported.
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A study of three new cases with different trisomies involving chromosome 9 and a review of about 100 cases of partial trisomy 9 reported in the literature, suggested some cytogenetical and clinical correlations and lead us to propose the nomenclature of Rethore's syndrome type 1 and type 2.
Following some introductory mention of the physiology of hyperbaric oxygen therapy and some notes on the physiology of postbronchitic emphysema and its cardiac, hepatic, renal and neurological sequelae, a personal method of hyperbaric treatment is described. The results in the first 50 emphysematous patients submitted to this therapy are reported along with those of the examinations carried out to evaluate respiratory function, and changes in haematosis, and cardiac, hepatic, neurological and renal function. It is concluded that hyperbaric treatment of postbronchitic emphysema should be considered of choice for quick, effective resolution of alterations in haematosis and the organic sequelae deriving from respiratory insufficiency. In association with other therapy (antibiotics, anti-inflammatory and balsamic drugs) it is also capable of stopping or usefully delaying the disease's development.
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