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Biomedical subjects

J R Bierich

Publications and source records attributed to J R Bierich.

At least 73 records · Page 4Linked to original sources
PubMed1979

Alcohol embryopathy and diabetic fetopathy in the same newborn.

Both alcohol embryopathy and diabetic fetopathy were observed in the same female child. The mother was known to be alcoholic as well as diabetic. At birth the signs of diabetic fetopathy predominated: the child showed edematous subcutaneous fat, birth weight was 3650 g. The heart was enlarged. The patient's blood sugar levels ranged from 0 to 1.4 mMol/1 (0-25 mg/dl). Features of alcohol embryopathy were typical craniofacial dysmorphy, hypotonia of muscles and hyperexcitability. Later on the features of alcohol embryopathy predominated: the child became dystrophic with pronounced microcephaly, and the craniofacial dysmorphy clearly resembled other patients with alcohol embryopathy. This observation is in favour of the hypothesis, that alcohol induces cell hypoplasia in the embryo resulting in postnatal growth retardation. Maternal and consequently embryonic and fetal hyperglycemia induced cell hypertrophy in the embryo and fetus, which compensated the effect of alcohol on birth weight in our patient.

Abnormalities, Multiple↗
PubMed1979

[Spontaneous secretion of growth hormone in children with constitutional delay of growth and adolescence and with early normal puberty (author's transl)].

The spontaneous secretion of hGH (plasma-hGH levels, 1/2-hourly determined) during the first 5 1/2 h of sleep was measured in 18 prepubertal children with constitutional delay of growth and adolescence (cDGA), in 14 controls (matched pairs) and 1 girl with early normal puberty (enP). The mean value of the highest individual peaks of the children with cDGA as well as their planimetrically assessed total secretion of hGH amounted to 56% of that of the controls (p less than 0.01 and less than 0.001). The girl with enP showed enhanced hGH maxima and an increased total secretion. Therapeutic trials with hGH, 10 i.u./m2/week lead to a growth velocity twice as fast as before. Treatment with a long acting testosterone preparation caused a manifold increase of the hGH-secretion.

Adolescent↗
PubMed1979

Dysplasia of the lymphatics with lymphoedema, generalized lymphangiectasis, chylothorax and "pseudo-storage-disease".

A patient showing an unusual association of various abnormalities of the lymphatic vascular system is reported. These abnormalities became first evident in early childhood and consisted of lymphoedema of the left leg, lymphangiectasis in various organs and occlusion of the thoracic duct at its entrance into the venous angle. Chylous effusions and subcutaneous chyloedema appeared in adolescence. Diagnostic biopsies of spleen, liver and bone-marrow revealed the presence of multiple foamcells, suggesting the diagnoses of lipid storage disease. The patient died from severe honeycomb-lungs at the age of 20. This case cannot be attributed to one of the wellknown disease entities of the lymphatic system. The "pseudo"-storage disease is regarded as secondary to the backflow of chylus into the tissues.

Adolescent↗
PubMed1978

[Interruption of pregnancy in alcoholic women (author's transl)].

Basing on previous experience, with alcohol embryopathy the authors recommended interruption of pregnancy in three chronic alcoholics, two of whom were in the chronic phase and one in the critical phase of alcohol addiction. All the three fetuses were hypertrophic, two severely malformed. In the authors' opinion there is eugenically speaking an absolute indication of interruption of pregnancy in alcoholics in the chronic phase of addiction. In women who are in the critical phase of addiction, each case requires close scrutiny, whereas interruption is not indicated from the eugenic aspect in women in the prodromal stage.

Abnormalities, Drug-Induced↗
PubMed1977

[Oestrogen treatment of girls with increased growth (author's transl)].

Forty-one pubescent girls of constitutionally tall stature were given conjugated oestrogens for a continuous period averaging twenty-two months. Oral progestin was also given, daily for five days during the second half of each menstrual cycle. Average predicted height of the girls was 186.5 cm, average final height was only 179.2 cm. In half of the girls in whom treatment had been started before menarche the height reduction was 2 cm greater than in those started after menarche. There were no severe side effects. Extreme care should be taken to limit strictly the indications for this treatment. Only girls with a growth prognosis above 183 cm should be considered. Therapeutic overstimulation of the endometrium must be avoided. Earlier views that the cessation of growth under oestrogen is due to early epiphyseal closure have been shown to be wrong. Growth frequently ceases long before epiphyseal closure. Reduction of somatomedin production was found to be the cause. The average serum somatomedin level fell to 56.9% of basal concentration after six months' treatment. At the same time, the circadian profile of growth hormone indicated a threefold increase above basal level. This phenomenon probably reflects a negative feedback mechanism between growth hormone and somatomedin.

Adolescent↗
PubMed1976

[Clinical aspects of pathogenesis of alcohol embryopathy (author's transl)].

68 cases of alcohol embryopathy are reported. The main symptoms are intrauterine and postnatal growth retardation (91%), microcephaly (87 per cent), psychomotor and mental retardation (84 per cent) and a typical craniofacial dysmorphism. Other malformations are frequently found such as cardiac defects (31 per cent), anomalies of joints (23 per cent) and genitalia (50 per cent). There is a marked variation in the intensity of the malformations. Taking into account the extent of the craniofacial dysmorphism and the cerebral damage, a classification into three types (I-111) of alcohol embryopathy is proposed. That ethanol has a teratogenic effect seems to be confirmed. The mother's clinical history suggests that the quantity of alcohol consumed has no marked influence on birth weight, length of gestation and severity of the symptoms. Possibly a defective ethanol metabolism in the severely affected mothers may account for the dysplasias.

Abnormalities, Drug-Induced↗
PubMed1976

[On the embryo-fetal alcohol syndrome (author's transl)].

The symptomatology in 24 patients with the embryo-fetal alcohol syndrome in this study corresponded essentially to the clinical picture described by Lemoine et al., and Jones et al., although we were not able to confirm the maxillary hypoplasia and microphthalmia mentioned in the latter. In addition, we observed in 2 girls a virilization of the genitalia which corresponded to female pseudohermaphroditism. Auxologically a nearly regular pattern of the parameters measured was found. The intra-uterine hypotrophy continues after birth. In particular, the head circumference, reflecting the brain growth, remains low. The cerebral damage leads to oligophrenia with a typical pattern of psychic and motor behaviour. Moderate cases tend to improve. Concerning the pathogenesis, the clinical observations in connexion with recent animal experiments permit the following conclusions. Neither the malnutrition nor the liver damage of the mothers are necessary presuppositions. Ethanol itself appears to play the main teratogenetical rôle. Acetaldehyde, which is the primary metabolite of ethanol, is cytotoxic too. However, the liver of the embryo and the fetus, in consequence of its deficient alcohol dehydrogenase content, is not able to metabolize ethanol.

Abnormalities, Drug-Induced↗
PubMed1976

Tubular Na, K-ATPase deficiency, the cause of the congenital renal salt-losing syndrome.

In the serum of two infant sisters with a congenital renal salt-losing syndrome, Na was rather low and K considerably increased. Even with Na levels of 126 mval/1, sodium was excreted in the urine. Creatinine and hippurate clearances were normal. Primary disturbances of the steroid metabolism were not detectable; plasma cortisol was normal, aldosterone and renin were compensatorily increased. Treatment with DOCA was unsuccessful. Whereas the first infant died (in another hospital), the second one throve well with high oral substitution of NaCl. There was no pathological findings other than a moderate hyperplasia of the juxtaglomerular apparatus, in a kidney biopsy. Except for minimal activity in the ascending limb of Henle's loop, there was no membrane bound Na, K-ATPase in the microdissected tubules. This finding most probably explains the renal salt loss, as this enzyme is necessary for the transcellular flow of sodium and potassium.

Adenosine Triphosphatases↗
PubMed1976

[Cerebral salt loss as Schwartz-Bartter-syndrome in childhood (author's transl)].

Schwartz-Bartter-syndrome as a consequence of severe cerebral alterations like bacterial and tuberculous meningitis, encephalitis, hydrocephalus and brain haemorrhage has been observed in 7 cases. Massive natriuresis is followed by marked hyponatremia and hypochloremia which may lead to an intracellular brain edema. Sodium administered even in high dosage is lost rapidly through the kidney, and does not normalize the serum level of sodium. The Schwartz-Bartter-syndrome is caused by inadequatly elevated ADH-secretion with consecutive water retention and an increase in plasma volume. Consecutively an increased excretion of sodium takes place causing a substantial loss of bound water. An analogous situation was seen in a child with neurohormonal diabetes insipidus after an overdosage of ADH, which resulted in a hypervolemia, marked hyponatremia and massive natriuresis. The increased excretion of sodium may be the result of reduced reabsorption of sodium in the proximal tubuli of the kidney, caused by a humeral natriuretic factor (the socalled "third factor"). In the serum of one of our patients an increased natriuretic activity could be shown; this is the first time in a child with Schwartz-Bartter-syndrome.

Blood Volume↗
PubMed1976

[Significance of bone age estimation to the clinic (author's transl)].

1. Typical alterations of bone maturation may be observed in many growth disturbances, e.g. consitutional delay of growth and development, early normal puberty and precocious puberty. They may be helpful for diagnosis and differential diagnosis. 2. Within certain limits it is possible to predict the definite adult stature of a child from his measured height and bone age. The prognosis frequently results in therapeutical consequences. 3. In order to correctly perform and evaluate hormonal treatment in endocrinopathies, regular controls of bone age are of utmost importance during childhood.

Adolescent↗
PubMed1976

[Acute adrenal hemorrhage in newborn infants: the importance of early diagnosis (author's transl)].

Two case reports demonstrate the importance of an early diagnosis for the therapy of adrenal hemorrhage. In the first case with unilateral hemorrhage, the hemorrhage as such was of importance. In the second case with bilateral hemorrhage, the course was dominated by acute adrenal insufficiency with circulatory collapse and major salt loss. The diagnosis was supported by the typical changes in electrolyte levels as well as by radiography, and endocrinological results. With early therapy (in the first instance by surgery, and in the latter by substitution of corticosteroids), both children safely passed the critical period. In the second child ACTH administration did not, in the first phase of the disease, result in a significant rise of plasma cortisol. However, two months later there was a normal rise of the cortisol level following ACTH administration. From this observation we conclude that a favourable regeneration of the adrenal glands has resulted.

Addison Disease↗
PubMed1976

[Cardiovascular malformations in embryofetal alcohol syndrome (author's transl)].

17 infants and children with embryofetal alcohol syndrome were examined of cardiovascular malformations. In 8 cases heart catheterization revealed malformations, mainly atrial septum defects (in 5 of 8 cases), only in one case a ventricular septum defect, in another case an aplasia of the right pulmonary artery and in one case a mild outflow tract obstruction of the left ventricle. Congenital heart diseases can be expected in nearly 50% of the cases in embryofetal alcohol syndrome.

Alcoholism↗