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Biomedical subjects

J J Heinrich

Publications and source records attributed to J J Heinrich.

At least 19 recordsLinked to original sources
PubMed1992

Familial idiopathic hyperphosphatasia (FIH): response to long-term treatment with pamidronate (APD).

A 5-year-old child suffering from familial idiopathic hyperphosphatasia (FIH) was treated by: (1) intravenous infusion of pamidronate (APD) (3 h) (0.75 mg/kg/day) for 5 days; and (2) oral administration of APD (8 mg/kg/day) for 1 year, in association with calcium (1 g/day) as calcium gluconate. A decrease of both serum calcium and phosphate, and a slight PTH increase were observed immediately after the IV treatment; serum alkaline phosphatase did not change, but a marked and rapid decline in the hydroxyprolinuria was observed: basal 659 +/- 207 during IV treatment 169 +/- 59 (mean +/- SD mg/24 h, P < 0.005). At the end of one year of oral APD treatment clinical and radiological findings showed a remarkable improvement. Serum calcium, phosphate and PTH returned to the initial values. Plasma alkaline phosphatase levels showed a 70% decrease: basal 1370 IU/l, 1 year 410 IU/l whereas the hydroxyprolinuria values were similar to those determined at the end of the intravenous treatment (212 +/- 13 mg/24 h), but still significantly lower than the basal levels (P < 0.01). No side-effects were observed. APD appears to be a promising treatment for patients with FIH.

Administration, Oral↗
PubMed1991

New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders.

Four children with severe congenital eye anomalies are described of which three had related symptoms. Two had bilateral anophthalmia, the optic nerves not detectable by computed cranial tomography and magnetic resonance imaging, and the third child had bilateral microphthalmia and coloboma iridis. The fourth patient had bilateral cryptophthalmia as part of Fraser syndrome. All four patients were of small stature. In three of them growth hormone deficiency was demonstrated which was of hypothalamic origin as shown by growth hormone releasing hormone tests. In the fourth child hypogonadotropic hypogonadism and tertiary thyroid deficiency were diagnosed which responded well to thyroxine treatment. Pathogenetically the described disorders are due to congenital defects of midline structures as a common "developmental field".

Abnormalities, Multiple↗
PubMed1989

Lack of correlation of serum estradiol with growth velocity during male pubertal growth.

The adolescent growth spurt in boys is under hormonal control. It is accepted that androgens and growth hormone contribute to male pubertal growth, but the role of estrogens is uncertain even though low-dose estradiol administration stimulates growth in prepubertal boys. In the present work, the correlation of serum testosterone and serum estradiol with growth velocity was studied in 16 pubertal normal boys. The study included correlations of growth velocity with serum nonsex hormone-binding globulin-bound testosterone and with serum nonsex hormone-binding globulin-bound estradiol, which are parameters of serum bioavailable sex hormones. A statistically significant positive correlation was found between serum testosterone and growth velocity but not between serum estradiol and growth velocity. These findings are against the hypothesis that estrogens play a growth promoting role during male puberty.

Adolescent↗
PubMed1988

Cystic craniopharyngioma treated by 90yttrium silicate colloid.

UNLABELLED: Fourteen children and 3 adults with cystic craniopharyngiomas were treated with intracavitary 90Y, by the procedure described by Backlund. Their ages ranged from 2 to 65 years and postoperative follow-up ranged from 6 to 40 months. Leksell's stereotactic technique was employed to determine coordinates by CAT. Cyst volume was quantified both geometrically and isotopically with 99Tc, values differing by 7%. Dosimetry was determined by applying the formula developed by Loevinger et al., and 20,000 rads were administered throughout to the cystic wall. All 17 patients, except for 4 children, had previously received surgery, shunts or radiotherapy, alone or combined. In 4 cases, 90Y injection was the only treatment, while in 6, the cyst was evacuated at 10 days following radiocolloid injection. Skull and spinal column gamma chamber studies were carried out on all patients at 24, 48, and 72 hours post injection, but no isotope leakage could be detected. The patients returned to normal activities except one with multiple cysts who died. There were no changes in the endocrinologic profile. In one case, a decrease in visual acuity 18 months after treatment, improved following corticoid administration. CONCLUSIONS: Though preliminary, these results are encouraging since it seems that the severe neuro-endocrinologic sequelae of open surgery may be avoided.

Adolescent↗
PubMed1987

Long-term endocrine sequelae after surgery, radiotherapy, and chemotherapy in children with medulloblastoma.

Thirteen children with medulloblastoma, were studied after 2 to 62 months off radiotherapy and chemotherapy with methotrexate and BCNU. Ages at time of study ranged from 2.3 to 15.7 years. Eleven patients, followed for a mean of 22 months, showed a significant decrease of height score, whereas nine patients had deficient growth hormone (GH) response to provocative tests. Clinical pubertal progression was normal in all patients, and three of five girls with advanced pubertal development had menarche. No evidences of gonadotropin disturbances were found in five patients whereas seven had raised basal follicle-stimulating hormone (FSH) level or FSH response to luteinizing hormone-releasing hormone (LH-RH). Abnormalities in thyrotrophin (TSH) secretion were found in 9 of 13 patients. This study shows that poor growth and GH deficiency were frequent in our patients. The high frequency of thyroid disturbances observed point out the need of evaluating thyroid function for adequate replacement therapy. Perhaps modification of adjuvant chemotherapy in the future can diminish drug-induced gonadal damage.

Adolescent↗
PubMed1987

Growth in Turner's syndrome: long term treatment with low dose ethinyl estradiol.

The growth response to 100 ng/kg BW X day ethinyl estradiol (2-4 micrograms/day) given for 18 months was studied in a group of nine patients with Turner's syndrome, aged 8.6-13.3 yr. All patients were prepubertal and had elevated gonadotropin levels. Growth velocity increased from 3.09 +/- 1.05 (+/-SD) to 7.09 +/- 1.47 cm/yr in the first 6 months, 6.08 +/- 1.78 cm/yr in the second 6 months, and 4.03 +/- 1.65 cm/yr in the third 6 months. Bone age increased a mean of 0.82 +/- 0.34, 0.89 +/- 0.79, and 0.74 +/- 0.59 yr, respectively, in the three 6-month periods. Predicted height prognosis did not change after any period. All patients had pubertal changes, limited in most to slight breast development. Mean diurnal spontaneous GH secretion did not change during treatment. Plasma somatomedin-C levels were low before treatment, and ethinyl estradiol did not significantly increase somatomedin-C values. Our data confirm the ability of a low dose of ethinyl estradiol to increase growth velocity in girls with Turner's syndrome, although the effect diminished with time, and the excess bone age advancement precluded improvement of predicted height.

Adolescent↗
PubMed1987

High serum sex hormone-binding globulin (SHBG) and low serum non-SHBG-bound testosterone in boys with idiopathic hypopituitarism: effect of recombinant human growth hormone treatment.

We measured serum sex hormone-binding globulin (SHBG), total testosterone (T), non-SHBG-bound T, albumin-bound T, free T, and SHBG-bound T in 19 prepubertal boys with hypopituitarism. Serum SHBG decreased with age with a slope similar to that in 91 normal prepubertal boys at higher level, and therefore, it reached similar values at a later age. Serum SHBG was significantly higher in hypopituitary prepubertal boys [mean, 123 +/- 12 (+/- SE) nmol/L] than in normal prepubertal boys (76 +/- 4; P less than 0.001) despite the fact that their mean age was also higher (10.0 +/- 4 vs. 7.1 +/- 4.1 yr; P less than 0.001). In 4 boys with isolated hypogonadotropic hypogonadism (Kallman's syndrome), aged 15.6 +/- 1.5 yr, serum SHBG was 21 +/- 14 nmol/L, a value below the 95% confidence limit of the regression line in GH-deficient boys. The affinity constants of association of the SHBG-DHT complex were similar in hypopituitary and normal boys. Eleven of the 19 hypopituitary boys (mean chronological age, 8.3 +/- 2.5 yr; mean bone age, 4.1 +/- 2.1 yr) were treated with recombinant hGH (0.5 U/kg BW.week) for 1 yr. Their mean serum SHBG level before treatment was 154 +/- 14 nmol/L, and it decreased gradually to 106 +/- 5 nmol/L (P less than 0.01) after 12 months of treatment. The tendency toward normalization of serum SHBG during treatment suggested that GH deficiency was responsible for the high serum SHBG levels. Serum SHBG correlated negatively with age in both treated hypopituitary and normal boys, but the slope of the regression line was significantly steeper in treated hypopituitary boys (P less than 0.01). On the other hand, the mean serum non-SHBG-bound T level was 0.10 +/- 0.02 (+/- SE) nmol/L in hypopituitary boys, significantly lower than that in normal boys (0.21 +/- 0.02 nmol/L; P less than 0.02). Since serum total T concentrations were similar in the two groups, the higher serum SHBG concentration resulted in lower serum bioavailable T levels in the hypopituitary boys. These changes might explain the poor response to T treatment reported in GH-deficient patients. The lower serum non-SHBG-bound T concentrations in the GH-deficient boys suggest there may be delayed exposure of central nervous system structures to increased levels of sex hormones, which, in turn, may slow body maturation. This mechanism might play a role in the delay of puberty that occurs in patients with isolated GH deficiency.

Adolescent↗
PubMed1986

Pubertal development in male hypopituitarism.

The spontaneous or therapeutically induced pubertal development of 65 male patients with idiopathic hypopituitarism was analysed. Spontaneous puberty occurred in 82% of the patients with prepubertal isolated growth hormone deficiency and in 32.5% of those with impairment in the secretion of more than one pituitary hormone. Out of this group, 36 patients could be studied longitudinally. In 15 patients, the onset of spontaneous puberty was delayed, on average, 3.2 years. It started at a bone age of 10.36 +/- 1.25 "years" and followed a pattern similar to that of normal boys. Testosterone levels at each pubertal stage were not different from those of normal boys. Mean peak height velocity reached 7.27 +/- 1.82 cm/year. In 21 patients with gonadotropin deficiency, hCG treatment was started at a chronological age of 19.04 +/- 2.17 years and a bone age of 12.94 +/- 0.80 "years". Plasma testosterone attained normal adult levels in the majority of boys, while the development of sexual characteristics showed a wide variation. Mean growth velocity during the first year of hCG therapy reached 6.11 +/- 2.47 cm/year. Partial gonadotropin deficiency was diagnosed in two boys. Although testosterone seems today to be, for practical reasons, the replacement therapy of choice, hCG treatment is an alternative for hypopituitary patients with absent gonadotropin function.

Adolescent↗
PubMed1986

Selective aggressive burn excision for high mortality subgroups.

Traditional teaching recommends major burn procedures be limited to successive 20% total body surface area (TBSA) excision and grafting procedures. This format theoretically reduces the surgical stress and limits the transfusion requirements to a level reasonably tolerated by patients. We have treated 14 patients with thermal burns involving greater than 30% TBSA. These patients underwent excisions ranging from 30 to 70% TBSA at the initial operative escharectomy. Tangential and fascial excisions were employed, depending upon the depth of injury, and autografts and/or allografts were utilized for wound closure. The results of this technique yielded an overall 71% survival. Time from burn to last autograft and hospital stay tended to be shortened or unchanged when compared to national averages. This series demonstrates the feasibility of performing early major escharectomy in a selected burn population without apparent increased surgical risk compared to patients treated by conventional staged excision. Although burn wound sepsis and mortality appeared favorably affected by this technique, the small population size was unsuitable for adequate statistical analysis.

Adolescent↗
PubMed1985

[Behavior of serum acid levels in children in comparison with adults and the incidence of purine metabolism disorders and concomitant diseases in children of families with gout].

The result of our examinations was that there is a vast correspondence of the medium levels of serum uric acid as well as of the frequency of hyperuricaemia between children after the 10th year of age and the adults. In comparison to the average population children from families with a gout anamnesis revealed a twice as frequent disturbance of the purine metabolism. In a familial appearance of gout and/or in unclear renal as well as joint findings the paediatrician should think of the presence of a disturbance of the purine metabolism.

Adolescent↗
PubMed1985

Antibodies against animal growth hormones appearing in patients treated with human growth hormone: their specificities and influence on growth velocity.

The appearance of anti-human growth hormone (hGH) and anti-non-hGHs antibodies in 27 patients with idiopathic hypopituitarism, treated for periods of 6-18 months with three different preparations of hGH, was investigated. The preparations induced antibodies to GH in 21 out of the 27 patients: 10 patients produced exclusively an anti-non-hGH response, whereas 11 generated both anti-non-hGH and anti-hGH antibodies. The levels of antibodies against hGH had low correlation with decreased growth velocity, whereas those for the antibodies against non-hGHs did not correlate with decreased growth velocity.

Adolescent↗
PubMed1984

Comparison of single and combined tests for the evaluation of plasma growth hormone secretion in normal short children.

Growth hormone (GH) response to provocative tests was compared in normal short children. Seven of 23 children failed to respond to insulin hypoglycemia. Using insulin hypoglycemia followed by L-dopa only 2 of 23 children did not respond and giving bromocriptine combined with insulin hypoglycemia only 1 of 8 children failed to respond. All children submitted to propranolol followed by exercise (n = 14) and to bromocriptine followed by exercise (n = 6) responded with a satisfactory increase in plasma GH levels. The increase elicited by propranolol and exercise was higher than that induced by insulin hypoglycemia alone (p less than 0.005), exercise alone (p less than 0.05) or L-dopa after insulin hypoglycemia (p less than 0.01). The rise of GH induced by bromocriptine and exercise was higher than that obtained with insulin hypoglycemia alone (p less than 0.05). This study suggests that both adrenergic and dopaminergic mechanisms are involved in exercise induced GH release and confirms that combined tests are more useful than a single test to evaluate GH secretion.

Adolescent↗
PubMed1984

Phenotypic heterogeneity in familial isolated growth hormone deficiency type I-A.

We studied an Argentinian family of Spanish ancestry in which the parents are of normal height and three of their four children have isolated GH deficiency type I-A. Restriction endonuclease analysis of DNA isolated from leukocytes was done using 32P-labeled human GH (hGH) cDNA sequences as a probe. The three siblings were homozygous, while their parents and the remaining sibling were heterozygous for a deletion of about 7.5 kilobases DNA, which included the normal hGH gene. The phenotype of the affected subjects differed in several respects. There was variation between the homozygotes in birth length and height before hGH treatment and growth responses during long term hGH treatment. Furthermore, heterozygotes in this family had normal height despite their diminished hGH responses to provocative tests.

Adolescent↗