Different dose effect of HLA-DQ alpha beta heterodimers in insulin-dependent diabetes mellitus and celiac disease susceptibility.

To compare the quantitative effect of the DQ alpha beta heterodimers DQ alpha 52 Arg+, beta 57 Asp- and DQ alpha 1*0501, beta 1*0201 on susceptibility to IDDM and CD, we characterized, at the genomic level, the DQ alpha 52 and DQ beta 57 residues of 50 IDDM Italian patients observed in Rome. The results were compared with those of a previous study concerning the oligotyping of DQ dimers in a group of CD children belonging to the same population. Our data confirm that both diseases are primarily associated with HLA-DQ alpha beta heterodimers, but the distributions of the respective susceptible DQA1 and DQB1 alleles in the two diseases were different. In fact, the highest risk of IDDM is for subjects alpha SS, beta SS that could express, by either cis- or trans-association, four susceptible heterodimers and decreases in proportion to the number of these; in regard to CD, the highest risk was found for individuals who carried only one predisposing heterodimer.

[Peripheral neuropathy in infantile and juvenile diabetes. A neurophysiological study]. / La neuropatia periferica nel diabete infantile e giovanile. Studio neurofisiologico.

We report on the results of a study on the peripheral nerve function in 40 patients with type I diabetes mellitus with onset in pediatric age. Results have shown a significant decrease in motor and sensory nerve conduction velocities (NCV) in a high percentage of cases, correlated with the degree of metabolic control. The finding of NCV slowing also in patients with a history of diabetes of less than 10 years and the presence in these cases of a high number of complications (autonomic neuropathy, nephropathy, retinopathy) may suggest that peripheral neuropathy is an early-onset complication and that its prompt recognition through neurophysiological investigations can have some predictive value in forecasting other complications. This hypothesis is to be verified through prospective studies.

[Photoplethysmography as a means of early diagnosis of changes in the microcirculation of children and adolescents with type I diabetes. Preliminary study]. / La fotopletismografia come mezzo di diagnosi precoce di alterazioni del microcircolo in bambini e ragazzi affetti da diabete di tipo I. Studio preliminare.

Recent progress in non invasive diagnostic techniques for the study of the microcirculation, evoked a great interest in the screening of the patients with a diabetic microangiopathy. The authors, in this paper, wanted to evaluate the usefulness of photoplethysmography in the study of the microcirculation in children affected by type I diabetes; this technique was proposed as very reliable, non invasive and easily repeatable. 42 diabetic patients, with an age from 6 to 18 years, and a group of 12 healthy subjects of the same age, as a control group, were considered. Two particular points of interest were found: the statistical correlation between familial pathology for a vascular disease and the photoplethysmographic findings and the significant correlation between the age of the pathology and the beginning of the microcirculation disease. The authors, from their experience, evaluate the photoplethysmography as a reliable technique in the screening of all the diabetic subjects, children and adults, to evidence, as soon as possible, eventual lesions of the microcirculation for the beginning of an adequate therapy.

[Autonomic neuropathy in type I diabetes in children]. / Neuropatia autonomica nel diabete tipo I in età pediatrica.

We tested some cardiovascular reflexes (Valsalva ratio, deep-breathing, postural hypotension) in 53 subjects suffering from diabetes type I in childhood with an average disease length of 13 +/- 6 years, in order to estimate possible damage to the autonomic nervous system without clinical symptomatology. A rather high percentage of signs of neurovegetative involvement combined with the progressive increase of further complications during the course of the disease, suggests early neurologic damage. We confirm the sensitivity of adopted tests and deep-breathing in particular.

Anti-goat immunoglobulin antibodies in diabetic children at diagnosis and follow-up: comparison with islet cell antibodies and other autoantibodies.

The presence of antibodies reacting with human as well as animal immunoglobulins in sera from recent onset Type I diabetic patients has been recently demonstrated by some of our group. In the present study, the occurrence of these antibodies has been evaluated in sera from 19 Type I diabetic patients, at diagnosis and at follow-up within three years, and from 26 normal subjects, and has also been compared with the presence of islet cell antibodies and other organ-specific autoantibodies. A solid-phase radioimmunoassay has been used: serum was incubated in goat immunoglobulin-coated wells and the binding of 125-I-anti-human immunoglobulin antibodies was evaluated. Anti-goat immunoglobulin antibodies were above the 90th percentile of normal values in all diabetic patients at diagnosis (median, interquartile range, in micrograms 125I-antibody bound/1 serum: 83, 77.5-88, versus 51.5, 44.5-62 in normal subjects, P less than 0.001) and significantly declined with time after diagnosis (P less than 0.001). Islet cell antibodies were present in 79% of patients at diagnosis, whereas at least one other auto-antibody was found in 21% of patients. In the follow-up study the decline in anti-goat immunoglobulin antibody levels was different from that of islet cell antibody positivity. A circulating immunoglobulin reacting with other immunoglobulins is thus present in the early stages of Type I diabetes and may well play a part in the complex immunopathogenetic interactions.

HLA typing data on 100 type 1 (insulin-dependent) diabetic patients from central Italy show a negative association with DR5 rather than with DR2.

HLA typing of 100 Type 1 diabetic patients from the Rome area confirmed the strong association with DR3 and DR4 and the prevalence of DR3/4 heterozygotes. However, DR5 rather than DR2 showed a significantly negative association.

Genetic polymorphisms in juvenile-onset diabetes.

Nine genetic polymorphic systems (ACP1, PGM1, ADA, AK, G-6-PD, Hp, ABO, Rh, MN), were studied in a series of 138 subjects affected by JOD. Differences between diabetic patients and controls were observed in the distribution of phenotypes of the red cell acid phosphatase (ACP1), and the ABO and MN blood groups.

[Long-term treatment with medroxyprogesterone in 4 children with true precocious puberty]. / Trattamento a lungo termine con medrossiprogesterone acetato in quattro bambine affette da pubertà precoce vera

PIP: The article presents the case of 4 little girls, aged 7-9, affected by true pubertas praecox, with secondary sex characteristics, menstruation, and precocious skeletal growth. One of the girls was also affected by epilepsy, and one by McCune-Albright syndrome. All girls were treated, over a period of 2-5 years, with injections of medroxyprogesterone acetate. Such treatment caused, in all patients, regression of mammary hypertrophy, reduction of plasma gonadotropins, and disappearance of menstruation. Skeletal growth was slowed down, thus improving prognosis for final stature. Such results coincide with others published in the literature on the subject.^ieng