Biomedical subjects
Publications and source records attributed to M Muñoz Torres.
We describe a case of a patient affected of familial hypobetalipoproteinemia with marked biochemical alterations (low cholesterol and triglyceride levels) which are characteristic of the homocygote form and with no apparent clinical manifestations. The determination of Apoprotein B and the family study permitted the diagnosis of a heterocygote form.
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We report 5 clinical cases of primary hypothyroidism or premixedema with associated pituitary lesion. Before treatment was started with L-thyroixine (L-T4) pituitary hormones were examined and an X-ray of the silla turca as well as a CT scan of the hypophysis (CTH) was done. Once supplementation treatment was started hormone levels normalized. In three out of the 5 cases, CT scan done after establishing therapy, showed empty silla turca. Therefore, me stress the importance of closely examining the pituitary gland in patients with untreated primary hypothyroidism.
Serum osteocalcin (BGP) is the currently most reliable marker of osteoblastic activity and of the bone formation index. To investigate its state in patients with insulin-dependent diabetes mellitus (IDDM) we measured the BGP level in 82 individuals divided in two groups. The control group (CG) consisted of 26 healthy volunteers (16 males and 10 females: mean age 25.6 +/- 2.8 years). The diabetic group (DG) consisted of 56 patients with IDDM (36 males and 20 females; mean age 23.2 +/- 6 years). The DG was, in its turn, subdivided in four subgroups (A, B, C, D) depending on the time from the diagnosis (TE) (less than 2, 2-5, 5-10, and greater than 10 years). The DG had a significantly lower BGP than CG (3.01 +/- 1.5 vs 3.9 +/- 1.7 ng/nl; p = 0.024). BGP levels were also lower in the subgroups C (2.4 +/- 1.0 ng/ml; p = 0.006) and D (1.7 +/- 0.9 ng/ml; p = 0.000) than in CG. When they were compared between them, the subgroups A (3.6 +/- 1.1 ng/ml) and B (4.5 +/- 1.4 ng/ml) had BGP levels significantly higher than subgroups C (2.4 +/- 1.0 ng/ml; p = 0.009 and p = 0.000) and D (1.7 +/- 0.9 ng/ml; p = 0.000 and p = 0.000). There were no differences between subgroups A and B, on the one hand, and C and D, on the other. There was a highly significant lineal correlation between TE and the BGP levels (r = 0.5196; p = 0.000). The patients with IDDM have reduced BGP levels; this reduction becomes apparent after 5 years of clinical evolution and shows a correlation with the time since the diagnosis.
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Primary hyperparathyroidism (PH) is now considered a common condition. Its frequency and the deleterious long-term effects of hypercalcemia make a correct diagnosis mandatory. We attempted to evaluate the usefulness of the indexes of parathyroid function and hormone measurements more commonly used in the diagnosis of PH. To this end we studied 64 patients, distributed in three groups: group with PH, group with hypercalciuric renal lithiasis (HRL) and control group (CG). The results were evaluated with a test of comparison of means and a stepwise discriminating regression analysis. The 8 most useful measurements to differentiate PH from HRL and CG were serum calcium, corrected serum calcium, serum phosphorus, fasting calcium excretion (FCE), maximal tubular calcium reabsorption (MTCR), maximal tubular phosphate reabsorption (MTPR), osteocalcin, PTH half molecule (PTH-HM) and 1,25-dihydroxyvitamin D. The 3-variable and 4-variable groups with a highest discriminating ability were: serum calcium, FCE and PTH-HM, and serum calcium, FCE, PTH-HM and MTPR. We think that the measurement of these four variables is the most adequate strategy for the diagnosis of PH.
A study was undertaken in 46 subjects; 21 patients diagnosed as having HRL and 25 volunteers patients. Biochemical and hormonal analyses were performed in the study population, including determination of Ca, P, Mg, Cr in blood and urine, phosphate tubular resorption (PTR), maximum tubular phosphate resorption (MTPR), fasting calcium secretion (FCS), alkaline phosphatase (AP), hydroxyprolinuria (HPR), osteocalcin (BGP), parathormone (PTH), cAMP, and 1-25(OH)2D. The stone formers showed lower calcemia values (p less than or equal to 0.005d), higher phosphaturia, and magnesiuria (p less than or equal to 0.0005), higher FCS (P less than or equal to 0.005) and higher values for PTH (p less than or equal to 0.01) and cAMP (p less than or equal to 0.0025). No significant differences were observed for the other parameters evaluated. Classification of the patient group into 2 subgroups (renal SbR and absorptive SbA) according to FCS values greater or lower that 0.16 mg/dl, the SbR patient group revealed a higher PTH and 1-25(OH)2D values (p less than or equal to 0.05). There appears to be no increase of bone resorption since AP, HPR, and BGP values in our patients fell within normal ranges. The 1-25(OH)2D levels were also normal and, with respect to the control group, were only elevated for the SbR patient group, whose PTH levels were also observed to be elevated. These increments appear to be related and may result in intermediate forms between renal and absorptive hypercalciuria.
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Over a period spanning six months, 69 patients with lithiasis were selected for evaluation of mineral metabolism. Hypercalciuria, particularly renal, was the metabolic disorder that was commonly detected. A high incidence of altered uric acid metabolism was also observed. The importance of correct diagnosis and treatment of hyperparathyroidism is underscored because of the extraordinary benefit afforded to these patients. Correct patient selection has resulted in a lower incidence of those with normal metabolic parameters and has thus maximized the usefulness of these studies.