Biomedical subjects
Publications and source records attributed to G Morgese.
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.
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Many authors have described abnormalities of calcium homeostasis in type I diabetes mellitus, but data in the literature are conflicting. Consequently we studied calcium, phosphorus and magnesium (in serum and urine), parathyroid hormone, calcitonin and 25-hydroxyvitamin D (25-OHD) levels in 21 prepubertal diabetic patients and in 21 sex- and age-matched controls. We did not find any significant difference of all the aforementioned parameters between diabetics and controls. Also the value of 25-OHD was similar in diabetic and healthy subjects (24.33 +/- 6.04 vs 22.09 +/- 5.01 ng/ml). The results suggest that the principal parameters of calcium metabolism are normal in prepubertal diabetic children.
In order to analyse the role of long-term metabolic control on serum lipids of diabetic children, the authors studied 61 diabetics for a period of time of 18 months. The age of the patients ranged from 7.2 to 19.5 years; the patients were divided into two groups according to the presence of albumin excretion rate more than 15 micrograms/min: group A 46 children with albumin excretion rate less than 15 micrograms/min; group B 15 children with albumin excretion rate more than 15 micrograms/min. During the study, all the patients improved the quality of metabolic control but only in the diabetics of group A serum cholesterol and triglycerides levels fell significantly. The patients of group B did not modify their serum lipids concentrations in spite of the improvement of metabolic control. This study suggests that in the diabetic children with microalbuminuria it is difficult to normalize the lipid abnormalities by means of optimized insulin conventional therapy.
The principal spirometric and plethysmographic parameters were measured in 68 (38 female) diabetic children and adolescents, aged from 6.01 to 22.00 years; their duration of disease ranged from 1 to 247 months. Thirty-four patients had persistent microalbuminuria. The patients were studied basally and after the Bruce test. All the spirometric parameters were normal in all children, with and without microalbuminuria. The presence of microalbuminuria seems not to be a risk factor for the developing of abnormal pulmonary function.
We studied plasma renin activity (PRA) and aldosterone in three groups of subjects. Group 1 consisted of seven Type I diabetics with microalbuminuria (greater than 25 micrograms/min), age 12.0-19.5 yr (mean +/- SD: 15.4 +/- 2.2), duration of disease 6.5-10.1 yr (7.9 +/- 1.9), HbA1c 9.6-16.0% (12.6 +/- 2.9). Group 2 consisted of seven sex and age-matched diabetics, duration of disease 3.7-9.0 yr (6.0 +/- 2.3), HbA1c less than 8%, microalbuminuria less than 10 micrograms/min, and microangiopathy-free. Group 3 consisted of seven healthy subjects. After overnight recumbency the PRA in group 1 patients was significantly higher than that for group 2 (3.926 +/- 4.54 ng/ml/h vs. 1.416 +/- 0.44; p less than 0.05) or for group 3 (3.926 +/- 4.54 vs. 1.11 +/- 0.82; p less than 0.007). After physical exercise the group 1 PRA value (10.199 +/- 9.62) was higher than in either group 2 (2.821 +/- 1.77; p less than 0.005) or group 3 (1.61 +/- 0.803; p less than 0.0006). Poor metabolic control and the presence of microalbuminuria can play a role in perturbations of the Renin-Angiotensin system. The presence of microalbuminuria can be an important indicator of mildly impaired renal function and may influence PRA production.
Cranioectodermal dysplasia is a rare syndrome characterized by craniofacial and skeletal anomalies and ectodermal dysplasia. Life-threatening associated conditions (i.e., kidney failure and abnormal regulation of the parathyroid-bone axis) can also develop. We report a patient whose features are suggestive of an inapparent, subtle phenotype of the syndrome. The patient is a 4-year-old girl with only dolichocephaly and clinodactyly; microdontia, hypodontia, and taurodontia (i.e., cone-shaped teeth); anteverted nares, full cheeks, and everted lower lip; epicanthal folds, hypertelorism and hyperopia; and corpus callosum hypoplasia. She has no rhizomelic limb shortening or hair abnormalities. In view of the rarity of the cranioectodermal dysplasias, the variability of the phenotype, and the uncertain outcome of some previously described patients, we believe this inapparent, subtle case should reported to enable better understanding and treatment of this rare syndrome.
In adults the distribution of body fat towards the central region seems a good predictor of disease and mortality. Central fat deposition tends to increase with age; sex and obesity further influence this trend. In children the distribution of adiposity to the central region is not well known. Recently, using circumferences of waist and thigh, we computed the percentile curves of the waist to thigh circumference ratio (WTR) from 2858 subjects (1440 males, 1418 females), 6-14-years-old (Zannolli, R., Chiarelli, F., and Morgese, G., 1993, International Journal of Obesity, 17 (Supplement 2), 60). In the present study, using the same sample of data, we showed that in lean, average or fat subjects, WTR is only weakly (< 5% of variance) explained by age, sex and body-mass index (in spite of the 'statistical significance' of sex and body-mass index in some groups). Hence, some subjects, among the lean, average and fat groups, could have a high (i.e. > 2 SD over the mean) WTR, independent of age, sex or weight. We therefore propose that the values of WTR should be checked against appropriate standards. Those with a WTR value greater than 2 SD from the mean, independent of age, sex or weight, should be studied more carefully, using anthropometry, so as to give early warning of those who are more prone to degenerative disease.
This paper reports a study of body-mass index (weight/height2) frequency distribution in 2858 schoolchildren (1440 males, 1418 females), 6-14 years old: (a) not taking into account the degree of skewness (z-score) and (b) taking it into account (LMS method by Cole). The z-score detected no evident problems of severe wasting conditions, but did detect the presence of severe fattening conditions. The LMS method gave a more balanced distribution. Methods that do not take into account the degree of skewness should be avoided in estimates concerning prevalence of wasting and stunting conditions.