[Physiopathologic, clinical and therapeutic bases of short stature].
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Biomedical subjects
Publications and source records attributed to E Vecci.
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The effect of synthetic LH-RH (Relisorm Serono: 25 microgram i.v.) on plasma LH, FSH and testosterone was examined in 19 normal pubescent and prepubescent boys. Changes in cortisol and testosterone after 0.25 mg/m2 body surface ACTH (Synacthen ciba) was assessed in a further 8 prepubescent subjects. Notable amounts of FSH, LH and testosterone were noted in prepubescent subjects, pointing to hormonal production prior to sexual maturation. There was a prompt and significant increase in LH in all cases. In prepubescent subjects, this was accompanied by marked increases in FSH on some occasions, though no appreciable change in circulating testosterone. This suggests that the hypophyseal reserve of LH is sufficient in puberty. Prepubescent subjects displayed a significant rise in cortisol 30' and 60' after ACTH, whereas testosterone fell with respect to the start values. The results indicate that acute stimulation of the adrenal cortex before puberty leads to testosterone suppression.
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BACKGROUND: In Caucasians, a small number of Type 1 diabetic patients do not show evidence of humoral islet autoimmunity at disease onset, at least with common screening procedures. In African- and Hispanic-American diabetic children at time of diagnosis, many show no evidence of autoimmunity but have an atypical clinical form of the disease. According to the recent American Diabetes Association classification, this subgroup of autoantibody negative patients is referred to as Type 1b diabetic subjects. In the present study, a homogeneous Caucasian Type 1 diabetic clinic-based cohort has been evaluated at diagnosis using a large panel of diabetes-related antibodies and then characterized for various genetic features in order to identify newly diagnosed Type 1 diabetics who are potentially autoantibody negative, i.e. possibly referrable to as idiopathic Type 1b diabetes. METHODS: Newly diagnosed Type 1 diabetic patients of Italian origin (n=141, mean age 12.0+/-7.6 years) were tested for anti-islet cell, anti-insulin, anti-65 kDa isoform of glutamic acid decarboxylase and anti-amino acid residues 256-979 of the tyrosine-phosphatase IA-2 molecule autoantibodies (Step 1). Only those patients found to be autoantibody negative were tested for anti-disialo-ganglioside GD3, anti-thyroid peroxidase, anti-thyroglobulin, anti-21-OH hydroxylase, anti-gastric parietal cell and anti-transglutaminase antibodies (Step 2). Sera negative for the presence of these six autoantibodies as well were characterized in terms of HLA DRB1, DQB1 and CTLA-4. RESULTS: Six out of 141 subjects (3.5%) were autoantibody negative in the first step of the study and five out of six in the second. These five autoantibody negative patients underwent genetic analysis. Three of them had at least one Type 1 diabetes-related high risk HLA haplotype (3/141, 2.1%) while the remaining two cases showed neutral (DR5-DQB1*0301/DR5-DQB1*0301) or strongly protective (DR2-DQB1*0602/DR2-DQB1*0602) HLA genotypes, respectively (2/141, 1. 4%). CONCLUSIONS: Clinically defined Type 1 diabetic patients with no sign of autoimmunity do exist in a Caucasian population. These patients (2 out of 141) that cannot be classified as Type 1a diabetic patients lack clinical characteristics of Type 1b diabetes and have to be reconsidered for a more appropriate ADA classification. These data suggest the need of further large population-based studies to understand if Type 1b diabetes really occurs in a Caucasian population. The patient with a strongly protective HLA genotype is particularly interesting considering that among Caucasians only a few sporadic cases with Type 1 diabetes and DQB1*0602, have been reported, none of whom was homozygous at DQB1 locus.
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Fragments of articular cartilage and synovial membrane in a case of ochronosis were studied by light microscopy (LM), polarized light, and transmission electron microscopy (TEM). Granular and/or shard-shaped pigments were observed in the synovia, cartilage, and subchondral tissue, and dispersed pigment was also seen in the synovial fluid. Zones of the articular cartilage surface showed small erosions near shards, and sometimes, when the degenerative process was in an advanced stage, a substitutive fibrosis of the cartilage edge was demonstrated. LM and TEM observations of the samples studied revealed an alteration of collagen fibrils that appeared wavy and sometimes fragmented with loss of periodicity. They were always mixed with the dispersed pigment. A peculiar finding that characterized this ochronotic case was the complete absence of inflammatory infiltrates or signs of monocyte-macrophage activation. These structural and ultrastructural observations suggest that the pigment deposition in the articular surfaces was due to the synovial fluid circulation and partially to subchondral blood flow, which transports and stores the ochronotic pigments in the synovia and cartilage. These etiopathologic elements associated with the mechanical pathogenesis naturally present in the joints can contribute to the explanation of the pathogenesis and origin of ochronotic arthropathy.
Aim of the present study was to assess the increase of peripheral white blood cell (WBC) count and its clinical and prognostic significance in patients with cerebral ischemic infarction (CI). Thirty-six subjects (17 males, 19 females; mean age 73 +/- 10 years) with CI confirmed at CT scans were studied. A significant increase of WBC, not related to complicating infections, was observed in the early phase of CI. There was a significant linear correlation between the level of serum creatine phosphokinase and the number of circulating WBC which were higher in patients who died 6-30 days after the occurrence of CI. These data suggest that the increase in circulating WBC is dependent on the extent of the cerebral damage and should be considered as unfavourable prognostic sign.
The aim of the study was the evaluation of plasma osteocalcin (O.), alkaline phosphatases (A.P.) and urinary hydroxyproline excretion (uOHPr) in subjects 3-20 years aged. O., A.F. and uOHPr were increased in patients less than 15 years aged; thereafter the values were similar to normal adult values. O. correlates with age and body surface area in children aged less than 15 years; the highest values were observed at the expected age of puberal spurt. This behaviour was not evident for the other bone turnover markers studied. In conclusion, it could be suggested that O. is a useful index of bone peak mass reached at puberty.
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The Heat Shock Proteins (HSP) are a special category of proteins synthesized from 2 types of cells, one originating from ordinary organs and the other highly specialized ones from mammals. Their synthesis originates from a reaction of the cells to heat shock and therefore it can be thought of as a defense mechanism activated by the cells to protect themselves from the damage done by heat. HSPs are also qualified as "molecular chaperons" since they are present at the assembling of other proteins and they protect them from any possible anomalous interactions even if they do not take an active part in the final making up of the protein itself. This chaperone role is the base of the hypothesis that HSPs could take part in the processing and presentation of the antigens. Two hypothesis have been formed on the role of HSPs in the immunological process. 1) HSP could be antigens that call for an immediate immunological reaction; 2) HSP could set off a self destructive mechanism brought on by an immunological reaction. From all this it emerges that the immunological reaction to HSP has two angles. One is protective in that it allows the cells to eliminate micro foreign-organisms and the other is harmful due to a badly regulated immunological reaction. In some studies it has been demonstrated that patients with varying autoimmunological disorders as LES and rheumatoid arthritis (AR), have autoantibodies against HSPs. Moreover the HSPs of certain microorganisms induce the formation of autoantibodies in the host and the proliferation of T cells in the synovial fluid in patients with AR.(ABSTRACT TRUNCATED AT 250 WORDS)
It is well known that the endothelial cells represent one of the most active and versatile elements in the human organism. In fact apart from being the lining of the vessel wall they exert both antithrombotic and prothrombotic functions. Endothelial cells regulate the vasomotor tone and also have a part in the different immunological and inflammatory process. All these functions are possible because the endothelial cells produce many receptors on their surface. This paper is a review of the latest data on different roles played and substances produced by endothelial cells.