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Biomedical subjects

C Pavía

Publications and source records attributed to C Pavía.

At least 19 recordsLinked to original sources
PubMed2001

Efficacy of low dose schedule pamidronate infusion in children with osteogenesis imperfecta.

BACKGROUND: Osteogenesis imperfecta (OI) is a rare condition in which bones are abnormally brittle with frequent fractures. A variety of therapeutic agents has been used with low efficacy. In this study, we present three patients treated for 4 years with i.v. pamidronate. PATIENTS AND METHODS: Three prepubertal patients, aged 9 (M), 9 (F) and 11 (F) years old, with OI, were treated with 30-60 mg i.v. pamidronate every 6 months over four years. Determinations were made of plasma 1,25-dihydroxycholecalciferol, 25-hydroxycholecalciferol, insulin-like growth factor-I (IGF-I) and its transport protein (IGFBP3), osteocalcin, total alkaline phosphatase and its osseous fraction, and parathormone (PTH) at baseline and after every pamidronate infusion, Densitometry and X-ray of the vertebral column were performed at the same intervals. RESULTS: Significant reductions of number of bone fractures and pain were observed in all patients, despite lack of any modification in biochemical parameters. Lumbar X-ray and densitometry showed a striking improvement by the end of the treatment period. CONCLUSION: Pamidronate seems to be useful in the treatment of patients with osteogenesis imperfecta.

Absorptiometry, Photon↗
PubMed2000

Total homocysteine in patients with type 1 diabetes.

OBJECTIVE: Our aim was to study the presence of moderate hyperhomocysteinemia, a risk factor for premature cardiovascular disease, its modifying vitamin factors (folates, vitamins B12 and B6), and lipid risk factors in juvenile type 1 diabetes. RESEARCH DESIGN AND METHODS: A total of 91 patients with type 1 diabetes (46 girls and 45 boys) were studied, with ages ranging from 11 to 18 years, a duration of diabetes from 1 to 15 years, and in pubertal development (stages III, IV, V). In all patients, cholesterol, triglycerides, HDL and LDL cholesterol, lipoprotein(a), folates, cobalamin, vitamin B6, and total homocysteine were determined by specific assays. Microalbuminuria, defined as a ratio of albumin/creatinine >3 mg/mmol creatinine, was analyzed in the first morning specimen. RESULTS: Plasma total homocysteine (tHcy) concentrations were not different in the 91 diabetic children (median [range]) (11-15 years, 6.1 micromol/l [3.2-9.6]; 16-18 years, 7.3 micromol/l [3.9-12]) compared with the control group (11-15 years, 6.6 micromol/l [4.4-10.8]; 16-18 years, 8.1 micromol/l [4.6-11.3]). No significant differences were found in tHcy values in relation to the metabolic control of the disease as assessed by glycohemoglobin values, the duration of disease, alterations in fundus oculi, or presence of lymphocytic thyroiditis. A positive correlation was found between tHcy and plasma creatinine in type 1 diabetic patients that might be related with the increase in muscle mass. There was a negative correlation between tHcy and serum folate (P<0.001) and vitamin B12 (P<0.05), but not with vitamin B6 levels. No significant correlations were found between tHcy and the lipid parameters. CONCLUSIONS: Hyperhomocysteinemia was not detected in adolescents with type 1 diabetes.

Adolescent↗
PubMed1998

Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome.

We present 2 cases of progressively severe Kearns-Sayre syndrome (KSS) with multisystemic affectation and atypical endocrine and cutaneous features, a 16-year-old patient (case 1) and a 5-year-old patient (case 2). Endocrine studies showed high glucose and glycohemoglobin concentrations with normal pancreatic reserve and low values of ACTH, cortisol, LH and FSH in case 1. Normal ACTH values with low concentrations of cortisol and PTH were observed in case 2. Southern blot analysis and PCR amplification revealed the presence of a deletion of approximately 6.7 kb in the mitochondrial DNA of both patients. Endocrinological studies suggest that adrenal insufficiency may be an additional feature of KSS that worsens the clinical evolution of the patients. In spite of a normal pancreatic reserve, insulin therapy should be considered in patients with diabetes mellitus of mitochondrial origin.

Adolescent↗
PubMed1997

Rapid screening method for detecting mutations in the 21-hydroxylase gene.

Impaired synthesis of adrenal steroid hormones because of steroid 21-hydroxylase deficiency is one of the most common inborn errors of metabolism. To expedite molecular diagnosis in families with 21-hydroxylase deficiency, we have designed a rapid strategy to determine nine of the most common mutations in the 21-hydroxylase gene. According to the mutation to be detected, we apply either of two simple strategies: digestion with adequate restriction enzyme or use of the amplification-created restriction site (ACRS) approach and subsequent restriction analysis. Both procedures are rapid and, being nonradioactive, are safer to perform; moreover determination of zygosity in the analyzed mutations requires only one tube per mutation.

Adrenal Hyperplasia, Congenital↗
PubMed1992

[Familial study for the early diagnosis of insulin-dependent diabetes mellitus].

BACKGROUND: Diabetes is more frequently found than expected in families of first grade with children with diabetes type I. METHODS: With the aim of identifying the potential candidates prone to develop diabetes type I, genetic and metabolic analysis was carried out on the members of 11 families with a diabetic type I child. They were distributed into three groups: 11 diabetic patients (IDDM); 22 progenitors and 13 unaffected siblings. The HLA haplotype was determined, the spectrum of autoantibodies and the intravenous glucose tolerance test (IVTT) were performed. RESULTS: In two progenitors postprandial glycemia values corresponding to intolerance to carbon hydrates were obtained. Moreover, in one the IVTT was found to be low in the normal values. Of a total of 12 non diabetic descendents studied, 4 shared identical HLA haplotypes as the diabetic, 5 were haploidentical and 3 unidentical. The DR 3 antigen was detected in 90% of the diabetics; in 68% of the progenitor group and in 50% of the non diabetic descendents. Sixty-two percent of the children inherited the DR 4 antigen of the father (p less than 0.05), while 37% do so from the mother. Of the siblings with a haplotype identical to that of the diabetic, 2 were also ICA positive; asymptomatic at the moment of the study but in one the diabetes type I became manifest after 2 years of evolution. CONCLUSIONS: Subjects at high risk of becoming type I diabetics may be identified at a preclinical phase by means of HLA typing and the detection of immunologic and metabolic markers associated with the disease.

Adolescent↗
PubMed1989

[Susceptibility to chronic HLA-system-associated lymphocytic thyroiditis. Its relationship with insulin-dependent diabetes mellitus].

The genetic association between HLA-system and chronic lymphocytic thyroiditis (CLT) related or not to type I diabetes mellitus (IDDM), have been analysed in three groups of children: 16 with CLT, 9 with CLT and IDDM, 11 with IDDM and 200 normal controls. The DQw1 antigen (75% vs 55%) was found associated with CLT, furthermore the observed increase of DR1 and DR2 antigens (37% respectively) is secondary to the linkage disequilibrium that exists between them and DQw1. DR3 antigen (60%) was found significantly increased (p less than 0.001) in CLT patients compared with the control group (24%). In diabetic patients, DR3 and DR4 were found in 85% and 63% respectively (p less than 0.001). The DR3 associated haplotype in CLT patients was different from the diabetic one's. All the diabetics, but one, were DR3-B18 haplotype carriers, but this association was only found in 25% CLT patients. The titre of thyroid microsomal antibodies (MCHA) was more frequent in the patients with DQw1 antigen (MCHA DQw1+ : 1/1072; DQw1- : 1/606). The CLT predisposition in childhood may be influenced by genes located within the HLA-region probably more than one, different from the genes related to IDDM. One of this genes closed to the HLA-DQ region, will be involved in the production of autoantibodies.

Adolescent↗
PubMed1985

Circulating immunoreactive somatostatin in man. Effect of age, pregnancy, growth hormone deficiency and achlorhydria.

Plasma immunoreactive somatostatin (IRS) levels were measured fasting at 09.00 h in groups of adult individuals and children of different ages, as well as in pregnant women, in patients with pernicious anaemia documented to be achlorhydric, and in children with growth hormone deficiency. There was a gradual rise in the mean level of IRS from the third decade (mean 35.8 +/- 3.8 pg/ml), which reached significance at the seventh (61.1 +/- 8.4 pg/ml), eighth (66.7 +/- 5 pg/ml) and ninth decade (82.6 +/- 13.8 pg/ml). No change was observed in the second 28.3 +/- 3.8 pg/ml) and third (31.1 +/- 3.2 pg/ml) trimester of pregnancy when compared with matched, non-pregnant controls (29.7 +/- 2.2 pg/ml); however, the children aged under 2 years (69.6 +/- 11.2 pg/ml) had significantly higher values than the eldest group (12 to 16 years old) (46.3 +/- 7.2 pg/ml) (P less than 0.05). In achlorhydric patients, basal (27.2 +/- 3.7 pg/ml; P less than 0.01) and postprandial IRS (42.8 +/- 7.7 pg/ml; P less than 0.001) was significantly lower than in a matched, normal control group (basal 59.4 +/- 7.2; postprandial 132.1 +/- 26.3 pg/ml). Growth hormone deficiency was not associated with any differences in circulating IRS, basally or after insulin hypoglycaemia, when compared with values in normal children.(ABSTRACT TRUNCATED AT 250 WORDS)

Achlorhydria↗
PubMed1984

[Adenohypophysis secretion in children: comparison between a combined test and isolated stimulation tests].

Pituitary function is assessed by a combined test (insulin, TRH, LH-RH) in twenty prepubertal children with constitutional delay of growth and/or retarded bone maturation, and is compared with another group of 31 children with the same diagnostic assessed by an isolated test. Plasma GH, TSH, PRL and cortisol levels had not interferences when the provocation stimuli were administrated in combined form or isolated one. When basal cortisol levels were near 25 mcg/100 ml, the insulin induced hypoglycemia did not lead higher values. Simultaneous evaluation of pituitary function can assessed in a short period of time (two hours) with minimum disturbs in children and exhibits a good information of the hypothalamo-pituitary axis.

Blood Glucose↗
PubMed1982

[Critical analysis of the diagnostic value of the first sesamoid bone of the thumb as an indicator of bone development in puberty].

Although the appearance of the first sesamoid of the thumb has been widely reported as being a good indicator of puberty, it should be noted that this finding has only been confirmed in cross-sectional studies. When trying to determine this relationship through a longitudinal study, we see that, although the correlation indices come within the limits of statistical significance, the wide range of variability in appearance reduces its practical usefulness. The sesamoid bone normally appears during puberty but neither the initial moment of this occurrence nor the exact stage of the child's development at that time can be assessed.

Adolescent↗
PubMed1981

[Effect of chronic administration of cimetidine on adenohypophysis secretion in children].

In view of the existing disagreement on the hormonal effects of a chronic treatment with cimetidine, we have studied on a sample of 18 children, the possible alterations that might occur. A comparison has been established between basal conditions and a two-month treatment with 500 mg. a day, on levels of GH, PRL, LH, FSH, TSH and cortisol (as an indirect measurement of ACTH). The statistic study has not shown any noticeable difference in the considered period of time, and dose that has been used does not provoke any alteration in adenohypophyseal secretion.

Adrenocorticotropic Hormone↗
PubMed1980

[Puberty in congenital hypothyroidism (author's transl)].

Puberty was studied in 95 patients with congenital hypothyroidism treated between 1953 and 1977 from the first months or first year of life. Pubertal abnormalities were observed in 13 cases: 1. Delayed puberty in 11 cases (late diagnosis in 6 cases, insufficient treatment in 2 cases, delayed puberty in the family in 1 case). 2. An amenorrhea-galactorrhea syndrome was observed in two cases with insufficient treatment. In the other cases, the outcome of puberty seemed within the normal range. However a careful study showed: 1st. A delay of every stage of puberty, 2nd. The absence of the peak of high velocity in some cases. 3rd. The age of menarche was 13 years 8 months (9 years 1 month-16 years 6 months) (normal girls: 13 years). Final height was dependent upon an early and efficient treatment, and upon a fast catch up of growth and bone maturation.

Adolescent↗