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Biomedical subjects

J Herrmann

Publications and source records attributed to J Herrmann.

At least 73 records · Page 4Linked to original sources
PubMed1976

Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister.

We report mother and son with the ulnar-mammary syndrome type Pallister: both had postaxial polydactyly in one upper limb and absence or hypoplasia of the axillary apocrine glands bilaterally. The mother had total lack of the mammary gland tissue and absence of one kidney. Her son also had unilateral oligodactyly, an absent ulna and hypoplasia of the ipsilateral shoulder girdle.

Abnormalities, Multiple↗
PubMed1976

Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases.

This report describes 12 patients with the Wiedemann-Beckwith syndrome (WBS), including 6 familial cases from 2 families. The clinical manifestations do not allow for a differentiation between familial and sporadic cases. Consistent morphologic features include organomegaly, cytomegaly and nucleomegaly. The pathogenetic process may involve few or many organs and tissues and may represent a nuclear/mitotic dysfunction. Clinically, the manifestations are hyperplasia, hypoplasia, dysplasia, neoplasia and defects in differentiation. Secondary functional disturbances are at times prominent. The differential diagnosis of the WBS includes 1) the Wilm's tumor (WT)-aniridia syndrome: 2) the "tumor-hypertrophy syndrome" which includes WT, adenocortical tumors or hepatoblastoma; 3) the WT-pseudohermaphroditism syndrome; and 4) the "tumor-nevus syndrome" with or without malformations (particularly duplications) of the urinary tract. The latter two conditions are apparently not associated with hemihypertrophy. Familial occurrence suggests that some cases of the WBS may be due to delayed mutation. Carriers of the premutated allele appear to belong to two classes: those with a high risk of producing affected offspring and those who transmit the premutated allele but have no affected offspring.

Abnormalities, Multiple↗
PubMed1976

Heterogeneity of Dyggve-Melchior-Clausen dwarfism.

Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since the two conditions appear to breed true they seem to be genetically different. We propose to name the former "Smith-McCort dwarfism" to clearly distinguish it from the DMC syndrome in which mental retardation is a constituent part. Both conditions are inherited as autosomal recessive traits. Spinal cord compression due to atlantoaxial instability is a serious and preventable complication of both disorders.

Adult↗
PubMed1976

[False radioimmuno-assay of thyroxine and triiodothyronine in the presence of hormone-binding autoantibodies in serum (author's transl)].

Radioimmunoassay of thyroxine and triiodothyronine in a 14-year-old girl with primary hypothyroidism and nodular goitre as a result of Hashimoto's thyroiditis gave falsely low values due to the presence of hormone-binding antibodies. Such antibodies occur in Hashimoto's thyroiditis and thyroid carcinoma. Their presence requires special methods for determining these hormones.

Adolescent↗
PubMed1976

Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome.

We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome. By coding the degree of severity of the limb defects it was possible to compare these cases quantitatively and to determine the nosologic significance of associated cranial nerve palsies and chest abnormalities. We analyzed 7 personal and 62 previously reported cases and found: 1. that the severity in the upper limbs and, particularly, malformations of the feet, but not the presence or absence of cranial nerve palsies, is a significant feature in the differentiation of cases, and 2. that the group of patients with cranial nerve palsies includes some with limb defects similar to those in the Hanhart syndrome and others with features which overlap the manifestations of the Poland syndrome. Still other cases had cranial nerve palsy as an isolated trait or as a component manifestation of several different syndromes. These findings permit re-definition and nosologic delimitation of the various syndromes as follows: 1. The Hanhart-syndrome: usually severe limb defect of at least one hand or foot, frequently associated with severe oral abnormalities and sometimes also with cranial nerve palsy. Most cases reported as aglossia-adactylia syndrome, aglossia-hypomelia syndrome, and some cases reported as glossopalatine ankylosis, ankyloglossia superior and Mobius syndrome describe instances of the Hanhart syndrome. 2. The Poland-Mobius syndrome: we suggest this term to refer to those cases of "Mobius syndrome" which have a chest defect and/or symbrachydactyly of the type seen in the Poland syndrome. We suspect that these cases of the "Mobius syndrome," and most of the cases which are usually diagnosed as Poland syndrome represent a different spectrum of the same condition, hence the term Poland-Mobius syndrome. 3. The autosomal dominant cleft palate/lateral synechiae syndrome delineated by Fuhrmann et al. and other apparently less frequent conditions are mentioned in the discussion. Cranial nerve palsy obviously occurs in several etiologically distinct conditions. An analogous situation is present, although less obvious, in the Hanhart and the Poland-Mobius syndrome. Both of these conditions are formal genesis malformation syndromes which implies that they are etiologically non-specific developmental field complexes. In the Hanhart syndrome Bersu et al. postulate a common pathogenetic disturbance for oral and limb defects, thus suggesting that the manifestations represent a single anomaly rather than a "syndrome." This anomaly, for which we suggest the term Kettner anomaly, may occur not only in the Hanhart syndrome but also in other conditions. Similarly, the Poland anomaly, i.e...

Abducens Nerve↗
PubMed1976

[Application of "subjective gustometry and olfactometry" for determination of reaction kinetics during sensorical changes in technological processes (author's transl)].

Under special conditions the "subjective gustometry and olfactometry" (SGO) allows to combine the concentration with the intensity of flavour components by theoretical means. In this way it can be used for quantitative determination of flavour concentrations as well as for kinetic measurements of sensorical changes. Thus the equations of chemical reaction kinetics (reactionorder, speed and temperature dependancy) can be used for calculation of sensorical changes as theoretically demonstrated for the formation and decomposition of different flavour components. The requirements for indicators, aroma indices, technological processes and storage conditions for a special quality criterium can also be calculated. By using the formation of cooked flavour in apple juice as a practical example the correctness of the theoretical calculations is demonstrated.

Food Inspection↗
PubMed1976

Ultrastructural investigation of peripheral arterial vessels in the cortex of rats with experimental hypertension.

The peripheral arterial blood vessels in the cerebrum of 36 experimental animals and 9 controls were studied by electron microscopy. In 5 rats of these renal hypertension was produced (the animals were sacrificed 3 to 15 days following the second operation). 24 animals were treated with depot angiotensin (0.02 to 2.5 mg/daily) for 3 hr up to 40 days, and 7 rats were neurotized for 1 to 41/2 months. The alterations of the cerebral vessels were distinctly different within these 3 models already in the early reactions. Thus, even in the first 14 days of the experiment with renal and angiotensinogenic hypertension alterations were observed that did never occur in the neurotized rats. There were always observed disturbances in permeability of the cerebral vessels, but they were never followed by such heavy wall insudations as usually noticed in the splanchnic vessels. The less frequent occurrence of hemorrhages and malacic processes in the rat brain is ascribed aside from the physiological properties of the brain supply, to genetic factors and the absence of arteriosclerotic burden to the vascular wall in the non-dietetically pretreated experimental animals.

Angiotensin II↗
PubMed1976

[Measurement of thyroxine binding globulin by competitive ligand binding assay (CLBA) (author's transl)].

The competitive ligand binding assay (CLBA) first described by Chopra et al. ((1972) J. Clin. Endocrinol. Metab. 35, 565-573) is a convenient routine method for the accurate measurement of thyroxine binding globulin in large numbers of serum samples. The assay is based on the partition of a constant quantity of radiolabelled T3 between a fixed quantity of rabbit T3 antibodies and the thyroxine binding globulin of the serum, after prior removal of T3 and T4 from the serum with an anion exchange resin (Amberlite IRA 400). In euthyroid subjects serum thyroxine binding globulin was 25.5 +/- 5.0 mg/1, in hyperthyroid patients thyroxine binding globulin was significantly decreased to 13.0 +/- 4.0 mg/1 and was significantly increased in hypothyroid patients to 36.8 +/- 6.2 mg/1 as well as in pregnant women to 41.3 +/- 6.2 mg/1. No difference was found between normal subjects and young women taking contraceptive pills with low oestrogen content. There were significant negative correlations between the thyroxine binding globulin in serum on the one hand side and the free T4-and free T3-fraction on the other. The low thyroxine binding globulin estimates in hyperthyroid patients increased gradually to normal during treatment with thyroid blocking drugs, the elevated thyroxine binding globulin in hypothyroid patients decreased to normal during treatment with thyroid hormones. The competitive ligand binding assay used here seems to be convenient as a routine method for the precise and reproducible measurement of thyroxine binding globulin in serum.

Animals↗
PubMed1976

[New methods for evaluation and analysis of organoleptic qualities of foods and for calculation of changes. 9. Dependence of irradiation flavor of apple juice and concentrate on the gamma radiation dose].

Various authors have defined organoleptically the concept "cooking flavour" for heat-treated apple juice and concentrate. In a similar way, the "irradiation flavour" caused by gamma radiation is defined in the present paper. It has been found that the irradiation flavour is attributable to low-boiling substances which appear already in the first fraction if the modified MICKO distillation is performed. Tetrahydrofuran (THF) has been identified as the key substance in irradiation flavour. As further evidence may be quoted the similarity of the intensity of off-flavour which was observed also by gas chromatography at the same times of retention, and the removal of the irradiation flavour by means of a THF-specific agent (mercury acetate). In connection with THF solutions added to non-irradiated apple juice, the authors employed the technique of "subjective olfactometry", using the "absolute value scale", to establish mathematical correlations between the intensity of irradiation flavour and the concentration of off-flavour products in apple juice or concentrate. The dependence of the intensity of irradiation flavour on the THF concentration and the gamma radiation dose, respectively, obeyed an exponential function. Thus, it has been possible to calculate the amounts of THF formed by radiation doses varying from 0.64 to 2.55 Mrad. Furthermore, the authors determined the minimum radiation dose for 12% apple juice and for 67% apple concentrate at which the irradiation flavour is first perceived (treshold of perception).

Cobalt Radioisotopes↗
PubMed1976

[New methods for analysis and evaluation of sensory qualities of foods and calculation of changes. 10. Quantitative titrimetric determination of irradiation flavor in apple juice and concentrate and its dependence on radiation dosage].

Irradiation flavour in apple juice and concentrate which is mainly attributable, according to our previous studies, to tetrahydrofuran (THF) that may be quantitatively determined by means of the so-called mercury acetate method. This is based on the fact that the amount of a 4% solution of mercury acetate needed for removing the THF odour is proportional to the THF concentration. Using this method, the amounts of THF produced by various gamma radiation doses (varying from 0.64 to 2.55 Mrad) could be determined titrimetrically. Calculations showed that the THF concentration increases linearly with the radiation dose. Thus, the minimum radiation doses at which the irradiation flavour is first perceived (threshold of perception) may be calculated readily. The mercury acetate method is also a model case of the use of subjective olfactometry for the quantitative determination of flavour key substances in foods so far as they may be quantitatively determined by means of chemical reactions since the endpoint of titration is controlled by the sense of smell.

Chemical Phenomena↗
PubMed1976

Delayed mutation as a cause of retinoblastoma: application to genetic counseling.

The genealogic and genetic data on retinoblastoma were reviewed and interpreted according to the model of delayed mutation; then applications of the model to specific situations in genetic counseling were considered. Patients with multiple congenital abnormalities and systemic chromosome aberrations are regarded as belonging to a different category of retinoblastoma cases than the more common patients without such abnormalities. The model of delayed mutation is considered for the latter group of patients. According to the model, mutation at the retinoblastoma locus can be delayed or complete and can occur during meiotic or mitotic cell division. Genotypically, three clases of individuals can be identified in retinoblastoma families: homozygous normal, heterozygous for the premutated allele, and heterozygous for the (fully) mutated allele; the other possible combinations of individuals have apparently not been observed. There is to date no evidence to suggest incomplete penetrance of the mutant allele, but 14% of individuals who have the mutant gene are "only" unilaterally affected. Carriers produce normal, affected and carrier offspring in the empiric proportion of, respectively, 54.5%, 36.4% and 9.1%. Most difficulties in genetic counseling arise because affected individuals may have inherited the premutated or the mutated allele and because unaffected individuals may have inherited the normal or the premutated allele. These aspects were considered for individuals presenting as sporadic-unilateral, sporadic-bilateral, familial-unilateral and familial-bilateral cases, and the empiric risk figures for various situations were quoted from the literature.

Alleles↗