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Biomedical subjects

P Martul

Publications and source records attributed to P Martul.

33 records · Page 2Linked to original sources
PubMed1992

[Other indications for growth hormone treatment: chronic kidney failure and Turner's syndrome].

Recently, it has been demonstrated that treatment with growth hormone (GH) can accelerate height velocity in children with chronic renal insufficiency (CRI), after kidney transplantation and in Turner syndrome. The pathogenesis of growth retardation in CRI is complex. Possibly the most important factor involved is the presence of peripheral resistance to insulin-like growth factors. The administration of GH in high doses may restore catch-up growth, both in children with CRI and in kidney post-transplant patients. After 12 months of treatment height velocity increased from 4.3 to 6.6 cm/year in 4 children with CRI, and from 2.5 to 7.4 cm/year in 3 patients with kidney transplant. GH therapy alone, but even more in combination with oxandrolone increases the growth rate in Turner syndrome and may increase the final height, but the long-term results of this treatment are awaited. No undesirable collateral effects have been reported.

Body Height↗
PubMed1990

Hypothalamic-pituitary-testicular function in 70 patients with myotonic dystrophy.

Hypothalamic-pituitary-testicular function was studied in 70 patients with myotonic dystrophy (MD). The diagnosis was confirmed by electromyography. The mean age of the patients was 36.2 +/- 13.2 yr and the duration of the disease was 11.17 +/- 8.01 yr. Testicular atrophy (testes less than or equal to 12 ml on a Prader orchidometer) was present in 65.5% of patients. Fertility among married patients was 66.6%. Mean testosterone plasma levels were 438 +/- 298 ng/dl vs 520 +/- 185 ng/dl in the control group (P = NS). Basal plasma FSH and LH levels, and their response after the administration of 100 mcg of LH-RH were significantly increased although a wide dispersion was observed. Sperm count was carried out in 27 cases, showing a normal count in 7, oligospermia in 12, and azoospermia in 8 patients. Testicular biopsy was performed in 45 patients being normal in 2, showing mild testicular damage in 8, moderate in 14, and severe in 18; it was nule in 3 of them. A significant relationship between testicular atrophy and the sperm count (p less than 0.01), testicular damage and testicular atrophy (p less than 0.025), and sperm count and testicular damage (p = 0.017) was found. Basal plasma FSH and LH level were significantly related to the degree of damage in the testicular biopsy. All these findings indicate a primary testicular pathology, prevailing tubular over interstitial damage. We have not found any association between the duration of the disease and gonadal dysfunction.

Adolescent↗
PubMed1988

Treatment with probucol of children with familial hypercholesterolaemia.

Nine children with familial hypercholesterolaemia, age range 2 to 12 years, were treated with a low cholesterol diet and probucol (10 mg/kg/day). The year before, the children received, as only treatment, a low fat-cholesterol diet. During this period their mean plasma total cholesterol level fell from 8.2 +/- 1.45 mmol/l to 7.17 +/- 0.84 mmol/l (12.6%). This level was further reduced to 5.92 +/- 0.63 mmol/l (17.1%) after the addition of probucol. Plasma high density lipoprotein cholesterol levels were lowered in absolute terms but not in relation to total cholesterol. No apparent side effects were observed. However, the use of probucol should be restricted for the moment to severe cases of hypercholesterolaemia as the long-term excretion of the drug in children is not yet known.

Child↗
PubMed1980

[Feto-maternal lipid levels in a case of type V hyperlipoproteinemic mother (author's transl)].

Plasma lipids and lipoproteins, and fatty acids percentage in type V hyperliproteinemic mother and her newborn infant were assessed to better understand the previously unstudied relationships between hypertriglyceridemic maternal situation and the possible fetal repercussions. The difference between total lipid serum levels in the mother (1,580 mg./dl.) and infant (220 mg./dl.) and triglyceride levels in the mother (723 mg./dl.) and infant (71 mg./dl.) are indicative of an impending placental transfer of the maternal hypertriglyceridaemia. Histological placental examination was normal. A significant increase of the prebeta-lipoprotein concentration in cord blood was observed. This might suggest that lipoprotein cord levels should allow, as in type II hyperlipoproteinemia, the neonatal screening of mothers type V infants.

Adult↗
PubMed1979

[Stimulation of growth hormone (HGH) secretion by physical exercise (author's transl)].

Authors study forty eight children with severe lineal growth retardation. The more frequent causes of a stunted growth were ruled out previously (systemic and chronic diseases, metabolic disorders, genetic alterations, etc.). As a screening test, physical exercise was used to detect growth hormone (HGH) deficiency. A normal response was considered when HGH levels rose more than 7,0 ng./ml. after 20 minutes of continuous exercise. In those cases in which this level was not attained. insulin-hypoglycemia alone and followed by insulin plus an arginine infusion were used as stimuli, to confirm the lack of HGH response. A correct response to the exercise was found in 81% of the cases. It is concluded that the physical exercise as HGH stimulus is a good screening test. It presents a high degree of confidence with some other qualities, mainly: little disturbances to the patients, a rapid performance, lack of unpleasant colateral effects, and the possibility that it can be carried out by sanitary non-medical personnel.

Child↗
PubMed1978

[Infantile cushing's disease with paradoxical response to dexamethasona due to a probable periodic hormogenesis (author's transl)].

A case of Cushing's disease in a ten year old girl with bilateral diffuse hyperplasia of the adrenal cortex and postoperative enlargment of the sella turcica is presented. The administration of dexamethasone elicited a paradoxical response with a clear elevation of the already high excretion of 17-hydroxycorticoids. The possible mechanisms for this previously described, but infrequent, response to dexamethasone are discussed. It is concluded that: 1) Interpretation of the classical dexamethasone suppression test can occasionally be misleading; and 2) Periodic hormonogenesis may account for this type of paradoxical response.

17-Hydroxycorticosteroids↗
PubMed1976

[Virilizing adrenal carcinoma (author's transl)].

A case of virilizing adrenal carcinoma, diagnosed in the first year of age, is presented. The difficulties of differential diagnosis with congenital adrenal hyperplasia are briefly discressed. There is not evidence of metastasis 15 months after complete surgical excision of the tumor and repeated detreminations of 17-CO and 17-OH have remained within normal limits. Finally some considerations are made regarding diagnosis, prognosis and treatment.

Adenoma↗
PubMedDate not supplied

New diagnostic tests of GH reserve.

Pharmacological tests are essential for the diagnosis of growth hormone (GH) insufficiency. Obesity is a pathological state associated with blunted GH response to all the classical stimuli tested. In the present study, three new pharmacological stimuli for GH reserve were evaluated in three groups of subjects: Normal, GH-insufficient and normal growing obese children. Dexamethasone provokes a clear GH-response in normal children, whereas the response in the other 2 groups of patients is significantly diminished. Galanin-induced GH-secretion is significantly higher in normal than in obese children. GHRP-6 causes a potent GH release in normal children, higher than in GH-insufficiency or obesity. The overlap shown between GH-insufficient patients and normal children reduces the usefulness of the tests. Similar to the classical stimuli, the response to these new tests is also decreased in obesity.

Dexamethasone↗
PubMedDate not supplied

Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis.

The Wilms' tumor gene (WT1) encodes a protein that is believed to exert transcriptional and tumor-suppressor activities. Mutations in this gene have occasionally been associated with Wilms' tumor (<15% patients) and, more consistently, with three syndromes characterized by urogenital abnormalities (WAGR, Denys-Drash and Frasier syndromes). We report 17 years follow-up of a 29 year-old phenotypic female with 46,XY karyotype, gonadal dysgenesis and nephronophthisis in order to identify possible germline alterations of the WT1 gene. Frasier syndrome was suspected and confirmed by genetic analysis. Sequence analysis permitted the identification of an A40-->G mutation in position +5 in the donor splice site of intron 9. During surgery for streak gonads extirpation, a microscopic gonadoblastoma was found, a typical complication of Frasier syndrome.

Adult↗
PubMedDate not supplied

[Diabetic ketoacidosis: results with two different patterns of insulin administration (author's transl)].

The response to insulin treatment in 15 children with diabetic ketoacidosis is studied. Insulin continous infusion was administered to nine patients. The other six patients received insulin subcutaneously except one half of the first dose injected by vein as a bolus. Both patterns of insulin administration proved to be equally effective. Anyway the insulin continuous infusion appears as a simple and easier method for a good general control and to prevent hypoglycemic episodes. To prevent a hyperglycemic rebound it is suggested that a dose of subcutaneous insulin must be injected immediately after the insulin infusion is discontinued. A discordance between hyperglycemia correction and the degree of acidosis has been noticed in some patients; this can be corrected decreasing insulin infusion rate.

Adolescent↗