Biomedical subjects
Publications and source records attributed to G Massa.
A girl with the Cohen syndrome and isolated growth hormone deficiency is described. Treatment with biosynthetic human growth hormone resulted in marked catch up growth to normal stature. It is concluded that growth hormone deficiency should be ruled out in patients with the Cohen syndrome and small stature.
The ontogeny and the nutritional regulation of the serum growth hormone-binding protein in Wistar rats was studied in vitro using Ultrogel AcA34 filtration of serum incubated with 125I-bovine growth hormone. The level of the specific binding of GH to serum GH-binding protein was low in 1-week-old rats (female rats 2.3 +/- 0.9%; N = 6, and male rats 2.1 +/- 8%; N = 6) and increased with puberty, to reach 10-fold higher levels in 12-week-old adult female (26.1 +/- 2.3%; N = 6) and 5-fold higher levels in adult male rats (11.2 +/- 0.9%; N = 6). From 6 weeks of age and onwards, the level of serum GH-binding protein was significantly higher in female than in male rats, reflecting sexual dimorphism. The nutritional dependence of GH-binding protein was supported by the 46% decline of serum GH-binding protein levels in 6-week-old female rats fasted for 3 days (11.6 +/- 0.9 and 6.3 +/- 1.1% in control and fasted rats, respectively; N = 8/group; p less than 0.001). After 4 days of refeeding, no difference was found between control and experimental animals. During development and after nutritional manipulation, Scatchard analysis revealed that the changes in GH-binding protein were due to changes in binding capacity and not affinity. The levels of serum GH-binding protein were positively correlated with the levels of hepatic GH binding sites, suggesting that the regulation of both proteins is closely related during development and in states of nutritional sufficiency and deprivation.
Growth data on 100 patients with Turner syndrome are reported. Seventeen had spontaneous puberty. Between the ages 11 and 13 years, height and height velocity were higher in these girls than in those with induced puberty. Final adult height, however, was not different. Patients disomic for Xp chromosome were taller than the monosomic ones, and the majority of them had spontaneous puberty. Significant positive correlations were found between height of Turner syndrome patients and corrected mid parental height, mother's height and father's height from the age of 6 years. It is concluded that in patients with Turner syndrome spontaneous puberty and parental height should be accounted for in the evaluation of linear growth.
The in vitro binding of 125I-bovine growth hormone (bGH) to adult rat serum was studied using Ultrogel AcA34 filtration. When analytical chromatography on a 1.6 x 100 cm column was performed, four peaks of radioactivity were revealed: the first two peaks with Mr +/- 220,000 and +/- 110,000 corresponded to bound 125I-bGH (abolished by excess of unlabeled bGH), the third corresponded to free 125I-bGH and the fourth to free Na125I (Vt). On a short (1 x 40 cm) column, bound 125I-bGH eluted as a single peak between the void volume (Vo) and the peak of free 125I-bGH. Serum 125I-bGH binding was specific, saturable, and time-dependent. Specific serum 125I-bGH binding (bound/total radioactivity x 100), calculated as the difference of binding in the absence and the presence of an excess unlabeled bGH, was higher in female than in male rats (26 +/- 2% vs. 11 +/- 1%, respectively; mean +/- SE; n = 6; P less than 0.01). Scatchard analysis revealed a binding affinity of 2 x 10(8) M-1 for both sexes, and a binding capacity of 6.4 x 10(-8) mol/liter for the female rats and 1.6 x 10(-8) mol/liter for the male rats (mean of three serum pools of three animals each). Specific binding of 125I-bGH to serum correlated significantly with 125I-bGH binding to liver homogenates (r = 0.83; n = 12; P less than 0.01). These results suggest the presence of a specific GH-binding protein in rat serum and provide further evidence for a close relationship between serum GH-binding protein and hepatic GH receptors.
Forty patients with Turner's syndrome, aged 5.0-16.6 yr, were randomly allocated to receive daily sc injections of recombinant human GH (hGH) at a dose of 1 IU/kg.week alone (group I) or in combination with 25 ng/kg.day ethinyl estradiol (E2; group II). The mean pretreatment height velocity was 3.8 cm/yr for both groups. During the first year of treatment height velocity increased significantly (P less than 0.001) in both groups, to 7.5 +/- 1.3 and 8.1 +/- 1.6 cm/yr, respectively. The difference between the two groups was not significant. The mean (+/- SD) height velocity expressed as the SD score for chronological age (Turner references) was 0.0 +/- 1.2 for group I and 0.2 +/- 1.4 for group II and increased significantly (P less than 0.001) during the first year of treatment to +4.3 +/- 1.1 in group I and +5.4 +/- 1.2 in group II. The difference between both groups was statistically significant (P less than 0.01). Height SD score for chronological age (Turner references) increased from -0.2 +/- 0.9 to +0.6 +/- 1.0 in group I and from -0.2 +/- 1.0 to +0.7 +/- 1.1 in group II. Mean bone age progressed similarly in both treatment groups (1.1 +/- 0.6 yr during 1 yr of treatment). However, bone age maturation accelerated more rapidly in younger patients. Twelve girls (three in group I and nine in group II) had minor breast development. No major adverse effects were reported. We conclude that daily sc therapy with hGH stimulates height velocity in Turner's syndrome. The beneficial effect on height velocity increment of E2 addition was small. Furthermore, even very low doses of E2 may induce breast development at an early age and accelerate bone maturation. For these reasons, the addition of E2 to hGH is not warranted in young patients with Turner's syndrome.
To investigate whether bile within the abdominal cavity changes the morphologic expression of peritonitis, rats received intraperitoneal injections of saline, bile, Escherichia coli (3 x 10(8) colony-forming units), or E. coli and bile (n = 10 in each group). Specimens were taken from the parietal and visceral peritoneum for light microscopy and scanning electron microscopy, 10 h after induction of peritonitis. Bile alone increased the number of inflammatory cells, especially of the monocytic type. After E. coli alone the monocytic cell response was less pronounced, whereas the polymorphonuclear leukocyte response was comparatively large in the visceral peritoneum. Addition of bile in E. coli peritonitis caused a substantial increase in polymorphonuclear leukocytes, especially in the visceral peritoneum, and in the depth of the inflammatory cell reaction. At scanning electron microscopy mesothelial cells appeared normal after bile alone, had reduced numbers of microvilli after E. coli alone, and were denuded or separated, without microvilli, after E. coli and bile. It is concluded that the inflammatory effects of E. coli are greatly enhanced in the presence of bile.
In order to compare the results obtained in terminoterminal and terminolateral intestinal anastomoses using fibrin glue, both fibrin glue and the tissucol KIT were used on a group of rats: comparison of the wounds so treated revealed that both products gave good results. It is claimed that with certain technical improvements the use of fibrin glue could be extended to microsurgery of the nerves and blood vessels.
Three patients with congenital toxoplasmosis and hypothalamo-pituitary dysfunction are reported. All three children were growth hormone (GH) deficient, two were gonadotropin deficient and one had precocious puberty in addition to central diabetes insipidus (DI). It is suggested that congenital toxoplasmosis might result in a neuro-endocrine disturbance and thus be an organic cause of hypopituitarism. Pituitary function and growth should be monitored in children with congenital toxoplasmosis.
A girl with short stature is described in whom chromosomal analysis revealed a 45,X/46,XX mosaicism and in whom radiological investigations disclosed the diagnosis of X-linked spondyloepiphyseal dysplasia tarda. This is the first report of the occurrence of X-linked spondyloepiphyseal dysplasia tarda in a child with Turner syndrome.
Germinal tumours compose about 1-2% of all human neoplasms. The most common histotypes appear to be seminoma and teratocarcinoma. These are the most frequent neoplasms in 15 to 35 years old males. Up until 15 years ago, the prognosis of these tumours was almost always poor. New combined chemo-radiotherapy approaches permit prolonged survival or a cure in most cases. We describe the case of a patient who benefitted from these new therapeutic protocols. A review of these new treatments is also presented.
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Growth from birth to the age of 19 years was studied in a patient with the neonatal form of Bartter syndrome. The initial modes of therapy (extra fluid, potassium supplements and triamterene) resulted in satisfactory but not optimal growth. Treatment with spironolactone together with potassium led to impressive catch-up growth. When the patient reached the age of 9 years, indomethacin therapy was started, which resulted in a second growth acceleration and was also accompanied by a significant reduction of both polyuria and hypercalciuria. Puberty developed normally, menarche occurred at 12 years 4 months and a normal adult height of 162 cm was reached at the age of 14 years. Treatment with prostaglandin synthetase inhibitors seems to be the best therapy for children with the neonatal form of Bartter syndrome.
A child with arthrogryposis multiplex congenita and microcephaly is described. Cranial CT-scan and MRI showed abnormalities consistent with type I lissencephaly. The lissencephaly seems to be the primary cause of the congential contractures. Lissencephaly associated with arthrogryposis multiplex congenita has to be considered as a special kind of lissencephaly syndrome.
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In three patients with neonatal Bartter syndrome associated with polyhydramnios, analysis of the amniotic fluid showed normal sodium, normal-to-low potassium, but high chloride concentrations. This finding clearly suggests a renal chloride reabsorption defect as the primary cause of the neonatal form of Bartter syndrome. It is suggested that whenever polyhydramnios occurs, the electrolyte composition of the amniotic fluid should first be analysed in order to establish the diagnosis of Bartter syndrome.