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Biomedical subjects

F Rigon

Publications and source records attributed to F Rigon.

At least 55 records · Page 3Linked to original sources
PubMed1990

Thyroid function in patients with Down syndrome: preliminary results from non-institutionalized patients in the Veneto region.

We investigated thyroid function of 108 home-reared Down syndrome (DS) patients. Five had overt hypothyroidism, 2 were hyperthyroid, and 33 had high TSH values with an exaggerated response to TRH test despite hormone levels in the normal range. This finding indicated subclinical hypothyroidism. Antithyroid antibodies (antimicrosome and antithyroglobulin) were present in 13 patients. At the same time we investigated 73 parents: only one mother was hypothyroid and antithyroid autoantibodies were found in only 8% of Down syndrome parents.

Adolescent↗
PubMed1989

Gas exchange during exercise in obese children.

Twenty-three obese children, aged 9 to 14 years, ranging in percentage overweight from 26% to 83% (median 51.6% +/- 16.3%), and 37 normal-weight children, matched for sex, age and height, performed a maximal exercise test on a treadmill. Cardiorespiratory performance was assessed by determination of the ventilatory anaerobic threshold (VAT) expressed in ml O2/min per kg and as a percent of maximal oxygen uptake (% VO2max). VAT and VO2max related to body weight were significantly lower (P less than 0.01) in the obese than in the normal-weight children. VAT % VO2max was similar in the two groups. A significant correlation was found between VAT and VO2max both in the obese (r = 0.85) and in the control groups (r = 0.79). The habitual level of physical activity was lower in the obese subjects compared to the control subjects (P less than 0.001). In conclusion our study shows that physical fitness of overweight children is quantitatively lowered and that it can be assessed by VAT. VAT does not require a maximal test and is particularly useful in the ergometric study of subjects with exercise intolerance.

Adolescent↗
PubMed1989

Oncologic causes of precocious puberty.

Tumors are rare, but well-documented causes of precocious puberty in both sexes. The therapeutic and prognostic implications of a diagnosis of cancer require that the presence of a neoplastic process be ruled out in any case of precocious puberty. Granulosa-cell tumor of the ovary and Leydig-cell tumor of the testis are the most frequent gonadal tumors inducing precocious pseudopuberty in the two sexes. Adrenal tumors sustain a variety of endocrine syndromes, the most frequent one being virilization with or without hypercortisolism. Pure feminizing adrenal neoplasms have been described. For reasons not yet well understood, hypothalamochiasmatic glioma (beta-HCG) secreting tumors have almost never been described in association with female precocious puberty. Among these neoplasia, pineal germ-cell tumor inducing sexual maturation must be included. Hypothalamochiasmatic glioma and craniopharyngioma are the two cerebral tumors capable of inducing true precocious puberty. Even if equally distributed between both sexes, these tumors interfere with sexual maturation less frequently in girls than in boys. Hypothalamic hamartoma is considered a benign tumor, since it does represent a space-occupying mass. It more correctly could be called a malformation if its histologic characteristics are recalled. This cerebral lesion is now frequently described in children with true precocious puberty, probably because of improved diagnostic imaging methods.

Child↗
PubMed1988

The natural history of adrenal function in autoimmune patients with adrenal autoantibodies.

Adrenal autoantibodies (AA) were found in 23 of 2571 (0.9%) patients with organ-specific autoimmune diseases, in one of 632 first-degree relatives of insulin-dependent diabetic patients, and in none of 375 normal controls. In AA-positive subjects the prevalence of human leucocyte antigens (HLA)-A1, -B8 and -DR3 was significantly higher with respect to the general population. Two groups were followed (15 subjects persistently positive for AA and 51 negative subjects) for a mean period of 3.2 years. Yearly tests were made for AA and adrenal function. Of the 15 subjects persistently positive for AA, six developed Addison's disease after a period varying from 6 months to 10 years. Of the 51 subjects initially negative, two became positive during follow-up, and one of these developed Addison's disease 15 months later. In contrast, all the remaining 49 persistently negative subjects maintained normal adrenal function tests. Overall, of the 17 positive subjects, seven (41%) developed Addison's disease, three (18%) showed various degrees of subclinical adrenocortical failure and the remaining seven maintained normal glandular function. In the positive patients the yearly incidence of detriment in adrenal function was 19%. Patients who developed Addison's disease showed significant association with HLA-B8 phenotype. The development from normal adrenocortical function to overt Addison's disease seemed to progress through four distinct stages of functional impairment: increased plasma renin activity with normal/low aldosterone (stage 1), low cortisol response after i.v. administration of ACTH (stage 2), increased ACTH (stage 3), and low basal cortisol (stage 4).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1987

Bilateral cerebral occipital calcifications and migraine-like headache.

Computed tomography scanning in two young patients with recurrent, pulsating, migraine-like headache showed parieto-occipital calcifications. One patient presented with an atypical form of the Sturge-Weber syndrome, and the other with celiac disease and folic acid deficiency. The clinical features were analyzed and compared with those in other cases reported in the recent literature which have shown bioccipital calcifications but no cutaneous angiomas, sometimes associated with visual and/or intelligence deficit and epilepsy. Finally, the possible connection between cerebral calcifications and headache is discussed.

Adolescent↗
PubMed1984

Clinical and subclinical organ-specific autoimmune manifestations in type 1 (insulin-dependent) diabetic patients and their first-degree relatives.

Studying 239 Type 1 (insulin-dependent) diabetic patients and 144 of their first-degree relatives, we found a significant prevalence of autoimmune manifestations in both groups, compared with sex- and age-matched control subjects (p less than 0.001). In particular, in diabetic patients we found a high frequency of autoimmune thyroid disease and idiopathic Addison's disease and also a significant prevalence of thyroid (p less than 0.001), parietal cell (p less than 0.05) and adrenal antibodies (p less than 0.05). In the relatives a high frequency of thyroid disease, thyroid, parietal cell and adrenal antibodies and a significant prevalence of islet cell antibodies (p less than 0.05) were detected. In both groups functional glandular tests and gastric biopsies performed on the basis of autoantibody positivity revealed 13 examples of subclinical hypothyroidism, two cases of reduced adrenocortical reserve and five of atrophic gastritis. Autoantibody screening in diabetic patients and their relatives permitted the early diagnosis of the underlying endocrine disorders.

Adolescent↗
PubMed1983

Complement-fixing adrenal autoantibodies as a marker for predicting onset of idiopathic Addison's disease.

In a prospective investigation of the role of adrenal autoantibodies (AA) in predicting the onset of idiopathic Addison's disease, 9 initially non-addisonian AA-positive autoimmune subjects were followed for 42 months. In 4 of these subjects Addison's disease developed within 1-31 months. A fifth had reduced adrenocortical reserve at the start and at the end of the investigation. An AA capable of fixing the membrane attack complex of complement [(C5-C9) F-AA] was detected before onset of the disease in the sera of the 4 patients in whom Addison's disease developed. (C5-C9) F-AA may be involved in the pathogenesis of idiopathic Addison's disease and may be regarded as a marker for individuals in whom idiopathic adrenal insufficiency is likely to develop.

Addison Disease↗
PubMedDate not supplied

Molecular characterization of 21-hydroxylase deficiency in 70 Italian families.

Seventy Italian families affected by 21-hydroxylase deficiency were studied in order to evaluate the distribution of mutations. The coding P450c21B gene, the highly homologous P450c21A pseudogene and the linked C4A, C4B and DRB genes, mapping within the major histocompatibility complex region, were studied by multiple restriction analysis and in vitro amplification. In the affected individuals, 21.4% of the chromosomes were found to carry either gene deletions or large and small gene conversions. Our findings, consistent with previous reports in other ethnic groups, provide further evidence for the genetic heterogeneity of the disease.

Adrenal Hyperplasia, Congenital↗
PubMedDate not supplied

McCune-Albright syndrome: a longitudinal clinical study of 32 patients.

We report the diagnostic clinical features and their long term evolution in 32 patients with McCune-Albright syndrome. Patient data are made up of two periods: the first, classified as personal history, is from birth until the time when the diagnosis of McCune-Albright syndrome was made; the second, classified as clinical observation, is from the first observation until the end of follow up. The total duration of these two periods was 9.6+/-2.9 yr; mean age at first observation was 5.7 yr (range 0.7-11 yr). The probability of manifesting main clinical signs according to age was calculated: almost all had skin dysplasia at birth, 50% probability of peripheral precocious puberty in females at 4 years and 50% of bone dysplasia at 8 years of age were found. Other clinical signs had diagnostic relevance when preceding the main signs leading to diagnosis of McCune-Albright syndrome even without specific genetic investigation. The most important clinical manifestations have different evolutions: skin lesions increase in dimensions according to body growth; precocious puberty in females evolves rapidly but periods of regression can be seen in some patients; bone dysplasia in most patients evolves with an increase both in the number of affected bones and in the severity of lesions.

Child↗
PubMedDate not supplied

[Congenital adrenogenital syndrome and virilizing adrenocortical tumor in prepuberal females. Problems of diagnosis and therapy in 2 cases of virilization].

After reviewing the causes of virilization in the newborn and grown female child, the Authors describe a case of congenital adrenal hyperplasia (S.A.G.C.) due to 21-hydroxylase deficiency in a newborn and a case of virilizing adrenal tumor in a four and half years old female child. The diagnostic and therapeutical approach of these unhealthy forms is argued and, on the ground of the personal observation and literature data, the frequent incidence of virilizing adrenocortical tumors within the same family is remarked and underlined.

Adenoma↗