Thyroid disease and retinitis pigmentosa.
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Biomedical subjects
Publications and source records attributed to G Proto.
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Technetium-99m methoxyisobutylisonitrile (MIBI), like thallium-201, has recently been introduced as a myocardial perfusion agent and is now also showing very promising results in parathyroid scintigraphy. The results of 201Tl/99mTc-pertechnetate and 99mTc-MIBI/99mTc-pertechnetate subtraction scintigraphy, ultrasonography and computed tomography are presented in a series of 43 patients operated on for hyperparathyroidism. All four imaging modalities were confirmed to be reliable, scintigraphy being the most accurate. Sensitivities ranged from 81% to 95%, that of 99mTc-MIBI being the highest. Moreover this tracer, which has more favourable physical and also biochemical properties, yielded images of superior quality. This allowed localization of the lesion by visual inspection only in as many as 86% of the patients with positive 99mTc-MIBI/99MTc-pertechnetate subtraction scintigraphy. We believe that the higher sensitivity, superior image quality and lower cost of 99mTc-MIBI imaging will make 99mTc-MIBI the new radiopharmaceutical of choice for parathyroid scintigraphy (when one take into account the stability of labelling with large activities it is possible to perform three or four cardiac studies together with one parathyroid scintigraphic examination using one lyophilized vial).
When mild asymptomatic hypercalcemia occurs in a patient with hyperthyroidism, it may or may not be due to concurrent hyperparathyroidism and at times only the control of the hyperthyroidism will resolve the problem. Moreover, the presence of hyperfunctioning thyroid nodules will interfere with Tl-201/Tc-99m pertechnetate parathyroid scintigraphy. Initial treatment of hyperthyroidism with I-131 in this situation controls hyperthyroidism and permits successful localization of parathyroid adenomas, which may then be excised--a result that was achieved in three cases.
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We describe the anatomical abnormalities in the hypothalamic-pituitary region revealed by magnetic resonance imaging (MRI) in 10 patients, 8 men and 2 women, affected by idiopathic anterior hypopituitarism (IAH). In all cases contiguous sagittal and coronal T-1 weighted images were obtained. In 9 patients the high-intensity posterior lobe was missing, in almost all patients the pituitary stalk was thin and/or transected, and in 8 a bright T-1 nodule was detected at the infundibular apex, near the tuber cinereum, in the median eminence. None had diabetes insipidus. MRI proves to be very useful in understanding the etiopathogenesis of IAH.
We present a 33-year-old female patient with the unusual association of mixed sclerosing bone dysplasia and Cushing's syndrome. The patient had the classical features of cortisol overproduction and investigation showed bilateral adrenal adenomas and radiographic abnormalities in bone of osteopathia striata and osteopetrosis: the mixed-sclerosing-bone-dystrophy (MSBD).
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According to the Authors the discussion of the relationships between alcohol and diabetes should be a main step within a "personalized" program for the education of the diabetic patient, especially in region where alcohol consumption is very high and deeply rooted in tradition, habits and social life. Therefore the Authors propose a teaching program based on 6 points, touching the most important aspects. That must be known in order to avoid, at least partially, the short period complications, connected with the relationship between diabetes mellitus and alcohol abuse.
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Six chronic alcoholics with stigmata of Cushing's syndrome were studied before and after a period of alcohol abstinence. In all of them, after a minimum period of 3-4 weeks, a marked clinical and laboratory improvement was noted. The authors suggest that damage at brain level, with neurotransmitters' disturbance, caused by chronic alcoholism underlies the Pseudo-Cushing's Syndrome. The primum movens could be a disorder of the pituitary-adrenal axis secondary to a dysfunction of neurotransmitters with stimulation of ACTH-secreting cells of the adenohypophysis by the certicotropin-releasing factor (CRF).
Renal glycosuria is an inherited disorder of renal tubule function in which significant amounts of glucose are excreted in the urine in the simultaneous presence of normal blood glucose levels. Renal glucose titration analyses and HLA genotypes were performed in 5 unrelated affected families with a total of 25 patients and 40 healthy relatives. In each family the gene responsible for renal glycosuria segregates with the HLA complex suggesting a close genetic linkage. 2 cases carry intra-HLA recombinant haplotypes; in these subjects our findings indicate that the abnormal gene is closer to the HLA-A locus than the HLA-B locus. No HLA-A, HLA-B or HLA-C specific antigen is selectively increased among the 5 unrelated families affected with renal glycosuria.
Assessment of the pedigree of 7 persons in 3 generations showed that interpretation of the transmission modality of renal glycosuria may be influenced by the diagnostic criteria employed. Analysis of renal glucose curves and evaluation of glycosuria after an oral glucose tolerance test made it clear that albeit slight detects could be detected in family members who would be regarded as healthy according to the criteria of Marble. Distribution of the character pointed to dominant transmission, as opposed to the recessive autosomal transmission favoured in the literature. Variations in the clinical gravity of the tubular defect may be ascribable to a difference in the expressiveness of the abnormal gene or to genetic heterogeneity. Persons homozygous and heterozygous for the gene were present in the pedigree concerned.
Glycosylated hemoglobin (Hb AI) is commonly accepted as a parameter of the last 2-3 months metabolism of the glucides; therefore its growth must be proportionate to the metabolic unbalance [1]. We observed that chronic alcoholics often had significantly increased levels of Hb AI when compared with normal controls, although with a normal oral glucose tolerance test (OGTT); we therefore tried to correlate other metabolic factors with glycosylated hemoglobin: uricemia, triglyceridemia, cholesterolemia and high density lipoprotein (HDL)-cholesterol.
HLA typing and a range of autoantibodies were evaluated in five families affected with type A renal glycosuria. HLA typing demonstrates that this inherited disease is controlled by an autosomal dominant gene located on chromosome six in close genetic linkage with the HLA complex. All affected family members have significant titres of autoantibodies to nuclear antigens, native DNA, smooth muscle, mitochondria, liver antigens, thyroglobulin, thyroid microsomes and renal tubule brush border with variable association. This suggests that renal glycosuria is a complex HLA-linked disease with increased susceptibility to multiple autoantibody production and this urges caution with respect to its classical definition as a benign condition.
The prolactin response to oral metoclopramide (10 mg) was investigated in 53 chronic alcoholics (26 with alcoholic cirrhosis and 27 without evidence of liver disease) from two to seven days after alcohol suspension. The response appeared significantly higher in patients than in healthy controls and was not related to the presence of liver disease. This finding may depend on the deactivation of the dopaminergic activities secondary to alcohol suspension; alternatively, ethanol could have a direct action on prolactin secretion.
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We describe magnetic resonance (MR) and ultrasonography (US) features of bilateral testicular adrenal rest tissue in a 20-yr-old man with congenital adrenal hyperplasia (CAH). Scrotal ultrasonology detected bilateral homogeneous hypoechoic lesions with well-defined margins and without evidence of sound attenuation. MR is useful in defining the size of lesions, because the contrast resolution is better than with sonography and allows an accurate definition of the extent of disease. This case suggests that US evaluation should be included in periodical follow-up of patients with CAH, while MR may be used in the case of rapid increase in the size of the testicular mass.
A chronic mucocutaneous infection due to yeasts to the Candida genus can be part of the autoimmune polyglandular syndrome, described as APECS, APECED, SPA type I, CES. The authors describe the case of a young patient affected by mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. Chronic mucocutaneous candidiasis was diagnosed first in early childhood and was followed by the development of hypoparathyroidism (4 yrs) and adrenal insufficiency (5 yrs). The initial lesion of this syndrome is still unknown as the reason of the marked susceptibility to mucocutaneous candidiasis without systemic candidiasis. The treatment of mucocutaneous candidiasis has been improved by the introduction of orally active antifungal drugs as Ketoconazole, first, and fluconazole now.