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Biomedical subjects

H Frisch

Publications and source records attributed to H Frisch.

At least 19 recordsLinked to original sources
PubMed1992

Hypoplasia of the corpus callosum and growth hormone deficiency in the XXXXY syndrome.

A 3-year-old Libyan boy with the XXXXY syndrome is described. MRI examination of the brain showed hypoplasia of the corpus callosum. He had growth retardation and endocrine studies demonstrated growth hormone (GH) deficiency. Dermatoglyphic pattern was different from previous reports. At histological examination of the undescended testes, Leydig cells were seen although they are usually not found in this variant of the Klinefelter syndrome.

Agenesis of Corpus Callosum↗
PubMed1992

Spontaneous growth in Turner syndrome: evidence for a minor pubertal growth spurt.

Spontaneous growth of 141 untreated girls with Turner syndrome was analysed. Of the patients 25% were born prematurely; their weight and height were normal when compared to prematurely born healthy infants. However, birth weight and height was significantly retarded in Turner patients born at term. A curve for height and growth velocity for the age range 0-16 years was constructed with a sensitive statistical method. By use of a mathematical model equations were created for calculating z-scores and the related percentiles for the height of individual patients at given age. Median height of 18 untreated patients at 18 years was 143.8 cm. Analysis of growth velocity revealed a minor but significant growth spurt at the age of 12.5 years. This growth spurt was also detectable in patients without signs of spontaneous puberty and occurred later in patients with 45,X0 karyotype. Bone age progression was linear up to the age of 7.5 years and decelerated thereafter.

Adolescent↗
PubMed1992

Growth hormone treatment in Turner's syndrome: short and long-term effects on metabolic parameters.

OBJECTIVE: The effect of GH administration on various metabolic parameters and on growth and bone age development was studied in patients with Turner's syndrome. DESIGN: Patients were treated with daily s.c. GH (20 IU/m2/week) and ethinyloestradiol p.o. (100 ng/kg/day) during the first year and with additional oxandrolone (0.125 mg/kg/day) during the second year. The responses of free fatty acids (FFA), urinary excretion of hydroxyproline (HP) and IGF-I were evaluated after short-term GH application. Glucose tolerance was investigated before any therapy, during treatment with GH and oestradiol and after adding oxandrolone, respectively. The course of growth, bone age and IGF-I levels was followed throughout the study. PATIENTS: Eleven patients with Turner's syndrome aged 12.6 +/- 1.9 years (mean +/- SD) were included. RESULTS: Free fatty acids increased significantly 4 hours after one s.c. injection of GH (0.7 +/- 0.2-1.1 +/- 0.3 mmol/l; mean +/- SD). Mean urinary hydroxyproline excretion remained unchanged after 6 weeks of GH therapy (337 +/- 206-299 +/- 145 mumol/m2/24 h), but there was a significant negative correlation between individual hydroxyproline values and the peak serum GH followed stimulation. IGF-I was in the prepubertal range and increased significantly after 3 days of GH injection (30.0 +/- 10.0-42.5 +/- 10.0 nmol/l). Growth velocity (in Turner's syndrome related SD) increased from 0.0 +/- 0.3 SD before treatment to 0.9 +/- 0.8 SD after the first year and to 3.4 +/- 1.3 SD during the second year of treatment. There was no undue acceleration of bone age. During long-term treatment, IGF-I increased significantly only when oxandrolone was added. Two patients had impaired glucose tolerance prior to GH therapy and three additional children developed impaired or abnormal glucose tolerance after GH therapy. Insulin concentrations increased significantly only after introduction of oxandrolone. CONCLUSIONS: Patients with Turner's syndrome who had lower basal IGF-I levels had significantly higher responses of IGF-I, free fatty acids and hydroxyproline (P less than 0.01 for all parameters) after short-term GH application. The data indicate adequate endocrine and metabolic responses in patients with Turner's syndrome which are the basis for growth promoting action. A considerable number of patients had impaired glucose tolerance during GH treatment.

Adolescent↗
PubMed1992

Septo-optic dysplasia and growth hormone deficiency: accelerated pubertal maturation during GH therapy.

We report four patients (three male, one female) with septo-optic dysplasia and growth hormone deficiency. All had GH therapy for a period of four to eight years until reaching final height. In all four cases bone maturation during puberty was accelerated (1.4 to 1.9 "years"/year), resulting in a final height which was clearly below the predicted height. The progress of pubertal stages was very short in all patients. In three patients TSH and prolactin release after TRH stimulation were increased. These data support a hypothalamic original of the endocrine disorder. Insufficient GH release, even after repeated GHRH stimulation, is in contrast to this assumption. In one case there was a late manifestation of neurohormonal diabetes insipidus, which indicates the possibility of later disease progression. MR imaging of the brain demonstrated variable malformation of the septum pellucidum, chiasma and nervus opticus or the pituitary gland, respectively.

Abnormalities, Multiple↗
PubMed1992

Growth after radiotherapy and chemotherapy in children with leukemia or lymphoma.

The effect of radio- and chemotherapy on auxological parameters was investigated in 30 children treated for acute lymphatic leukemia (ALL) or non-Hodgkins lymphoma (NHL). Growth velocity was decreased during the first year of treatment. Catch-up growth was insufficient during the following years. Thus, the whole group experienced a loss of height of 0.49 +/- 1.1 SD at 6.8 +/- 2.6 years after diagnosis. Height and growth velocity were not different between children who received 18 or 24 Gy cranial irradiation; however, growth velocity was significantly lower in children who were treated for more than 2 years or who had the more intensive chemotherapeutic protocol. Evaluation of the growth hormone (GH) response to pharmacological stimulation revealed reduced GH peaks in 47% of the patients, but there was no correlation of GH peak with growth or treatment parameters. In conclusion, the impairment of growth in children after treatment for ALL or NHL might be related to the intensity and duration of chemotherapy.

Analysis of Variance↗
PubMed1992

Growth response to recombinant human growth hormone of mammalian cell origin in prepubertal growth hormone-deficient children during the first two years of treatment.

In five clinical studies performed in Austria, France, the FRG, Italy, Switzerland, the UK and the USA, 304 growth hormone (GH)-deficient children were treated with recombinant human GH (rhGH) of mammalian cell origin. Two hundred and twenty-five patients were previously untreated (naive patients), and 79 were transferred from pituitary hGH after interruption of therapy for at least 6 months (transfer patients). Two treatment protocols, differing in both dose and frequency of injections, were used: (1) a dose of 0.6 IU/kg body weight per week was administered in 3 s.c. injections to 203 patients (178 naive, 25 transfer; group 1); and (2) a dose of 0.45 IU/kg body weight per week was administered in 7 s.c. injections to 101 patients (47 naive, 54 transfer; group 2). After 1 and 2 years of treatment, 143 and 109 naive, and 51 and 46 transfer patients, respectively, were still prepubertal, and their data were analyzed for efficacy. During the 1st year of treatment, both naive and transfer patients on daily injections (group 2) demonstrated better growth than those on 3 injections per week (group 1), with height velocities (HVs) of 10.6 +/- 2.7 cm/year (group 2) versus 8.6 +/- 2.0 cm/year (group 1) for naive patients (p < 0.001), and 9.9 +/- 1.9 cm/year (group 2) versus 7.2 +/- 2.7 cm/year (group 1) for transfer patients (p < 0.001). The corresponding changes in height standard deviation score (delta H SDS) for chronological age (CA) were +1.3 +/- 0.6 (group 2) versus +0.8 +/- 0.5 (group 1) for naive patients (p < 0.01), and +1.1 +/- 0.3 (group 2) versus +0.6 +/- 0.4 (group 1) for transfer patients (p < 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1979

[Psychosomal dwarfism with reversible growth hormone deficiency (author's transl)].

The diagnosis of psychosocial dwarfism in a 9 year-old boy with severe growth retardation (-6 1/2 standard deviations) was deduced from the typical history. The bone age was severely retarded and in the first days after admission a deficiency of growth hormone and other pituitary hormones was established. The change in environment per se led to a spontaneous reversal of the growth hormone deficiency within a short time. A rapid catch up growth was observed over the subsequent 2 1/2 years, as well as a normalisation of the psychological retardation.

Age Determination by Skeleton↗
PubMed1979

[Haemoglobin AIc (HbAIc) and juvenile-onset diabetes].

HbAIc was determined in 20 children with juvenile-onset diabetes and in 15 healthy control children of a similar age group. HbAIc was 10.2 +/- 1.6% (mean +/- SD) of the total haemoglobin in the diabetic patients and 6.3 +/- 0.5% (mean +/- SD) in the controls. This difference was significant (P less than 0.001). A linear correlation was found between HbAIc and mean glucosuria over a 6-week period prior to HbAIc determination (p less than 0.01). It is concluded that HbAIc determination might be an important indicator of diabetic control and of the response to therapeutic measures since it represents an integrated gauge of blood glucose concentrations over several weeks.

Adolescent↗
PubMed1979

[Oligosymptomatic manifestation of congenital hypothyroidism (author's transl)].

A 4-year-old girl with congenital dysgenesis of the thyroid gland is reported. The girl's appearance was that of hypothyroidism in childhood but the classical symptoms of constipation and cerebral retardation were missing. Thus it is assumed that relative insufficiency of the ectopic thyroid at the base of the tongue produced manifestations only a short time before diagnosis, having had no influence on cerebral maturity.

Age Factors↗
PubMed1979

[Polycystic disease of early infancy in two sisters (author's transl)].

Polycystic disease of early infancy is a heritable disorder diffusely involving both kidneys with no other evidence of renal parenchymal malformation. After discussing the typical histological data of two sisters with normal family history a short survey about classification and differential diagnosis of similar heritable renal cysts is given. With regard to the few other cases with familiar occurrence an autosomal recessive transmission is the most likely form of inheritance, delayed manifestation has not been observed until now.

Chromosome Aberrations↗
PubMed1979

[Hydrothorax during the neonatal period (author's transl)].

The congenital hydrothorax is a rare cause of the RDS in the newborn. Our observations on three patients with bilateral pleural effusions and 44 cases from the literature will be discussed; we emphasize the importance of this serious disease in the newborn period. The pathogenesis is largely unknown, however, its possible etiology like birth trauma or dysplasia of the lymphatic system are discussed. It should be pointed out that this condition can be rapidly recognized by radiographic examination and successfully treated. The reported survival rate is 29 out of 44 (66%).

Birth Injuries↗
PubMed1979

[Exaggerated somatomedin activity in the Beckwith-Wiedemann syndrome (author's transl)].

Beckwith and Wiedemann described the syndrome of exomphalos, macroglossia and gigantism with hypoglycemia and visceral organ hyperplasias. In some cases of severe hypoglycemias hyperplasia of beta cells of the pancreas was found. Hyperinsulinism, which has to date rarely been investigated, reacts strongly to beta cell stimulation and can hardly be suppressed. The cause of gigantism and organ hyperplasias is still unknown. After a short description of a case of hypoglycemias in the first two weeks of life a long-term profile of the endocrinologic abnormalities and carbohydrate metabolism is given. Growth hormone response to insulin is normal, tolbutamide is followed by severe hypoglycemias without an increase in the immunoreactive insulin levels; the activity of somatomedin is excessively increased. The high activity of somatomedin explains the high potency of growth in the different tissues and the hypoglycemic reactions and it seems reasonable to assume that somatomedin could create nesidioblastosis of the pancreas with hyperinsulinism and severe hypoglycemias. It is likely that the Beckwith-Wiedemann syndrome and the Laron type familial dwarfism with high plasma growth hormone, absent activity of somatomedin, and disorders in carbohydrate metabolism represent complementary diseases.

Abnormalities, Multiple↗
PubMed1979

[Pneumoperitoneum in a newborn without intestinal perforation (author's transl)].

This is the report of the rare complication of an isolated pneumoperitoneum in a premature infant of 28 weeks gestation with artificial ventilation due to severe RDS. This rare occurrence in immature babies with artificial ventilation should be considered in the differential diagnosis of abdominal emergencies in this age group. Etiology as well as therapeutic consequences will be discussed.

Humans↗
PubMed1979

[Intestinal obstruction following necrotizing enterocolitis (author's transl)].

The increase in survival from necrotizing enterocolitis results in an increased rate of late sequelae. We would like to take the opportunity to emphasize these new complications by a review of our patient material. 11 (23.9%) patients from a total number of 46 showed signs and symptoms of intestinal obstruction at different points in the course of the disease. In two surviving patients out of this group of 11, a resection of postinflammatory gut stenosis had to be performed within the first year. In the 9 children who died, particular emphasis is being paid in the autopsy reports to obstructive lesions in the gastrointestinal tract. Due to this rather frequent event (23.9%) of postinflammatory formation of strictures and stenoses in the recovery from NEC a functional radiographic study of the intestinal patency seems mandatory before discharge of any patient with NEC with operative or conservative treatment.

Enterocolitis, Pseudomembranous↗
PubMed1978

[Delivery of a normal child after chemotherapy of acute promyelocytic leukaemia during pregnancy (author's transl)].

Upon chemotherapy with daunorubidomycin and cytosinarabinoside, a patient suffering from acute promyelocytic leukaemia during the 28. week of pregnancy achieved complete haematological remission. In spite of complicating disseminated intravascular coagulopathy and aggressive chemotherapy a normal child was delivered by cesarian section during the 34. week of pregnancy. Specific problems in the treatment of acute leukaemia during pregnancy are discussed.

Cesarean Section↗
PubMed1978

[Ring chromosome 15 in a child (author's transl)].

A report is given of the occurrence of a ring chromosome 15 in a 5.6 year-old girl. The features of this case are mental retardation, small stature, microcephaly, malformation of the kidney, congenital heart disease and congenital dislocation of the hips. The features of this syndrome are very variable. Only 4 cases have been described up to 1975.

Child, Preschool↗
PubMed1978

Bayley-Pinneau, Roche-Wainer-Thissen, and Tanner height predictions in normal children and in patients with various pathologic conditions.

Bayley-Pinneau, Roche-Wainer-Thissen, and Tanner height predictions at various chronologic ages were compared with final adult height in 56 normal subjects and in 34 patients with abnormal growth pattern (11 with familial tall stature, 7 with idiopathic precicious puberty, 6 with Turner syndrome, and 10 with primordial small stature or Silver-Russell syndrome). The two recent methods (Roche-Wainer-Thissen and Tanner) gave very accurate results and were superior to the Bayley-Pinneau method in normal subjects and in patients with familial tall stature. However, they overestimated adult height grossly in precocious puberty and moderately in Turner syndrome and in primordial small stature. It is concluded that calculations based on coefficients and regression equations obtained from normal children (as in the Roche-Wainer-Thissen and Tanner methods) can only be used in normal children or in patients with normal growth potential under adequate treatment. Calculations based on percentages of adult height (as in the Bayley-Pinneau method) are preferable in conditions in which the growth potential in relation to bone maturation is inherently reduced and cannot be corrected by treatment.

Adolescent↗