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Biomedical subjects

H D Rott

Publications and source records attributed to H D Rott.

At least 73 records · Page 4Linked to original sources
PubMed1980

[Autosomal dominant mild juvenile diabetes mellitus (MODY) (author's transl)].

A family is described in which eleven members, over four generations, suffer from the autosomal dominant inherited maturity onset type diabetes of young people (MODY). A comparison of these findings with those of six families previously described in the literature shows in particular that: 1. manifestation of the disease is predominantly at a fairly young age, 2. the complaint is not insulin-dependent nor is it progressive, 3. when medical supervision is adequate, there are hardly any secondary complications, 4. the inheritance pattern is autosomal dominant with high penetrance and probably a stronger expressivity in the female. This disease can be separated from the classical, insulin-dependent diabetes of the young, from the autosomal dominant lipatrophic diabetes and from the heterozygous form of the autosomal recessive complaint, which in the homozygous state shows diabetes mellitus and insipidus with optic atrophy.

Adolescent↗
PubMed1980

[Dermatoglyphic findings in children with mucoviscidosis and their parents].

Dermatoglyphics were investigated in 37 children with cystic fibrosis (17 boys, 20 girls, 4 pairs of them sibs) between two months and 17 years of age and in 30 of their parents. For the pattern distribution there were no differences between the patients or their parents respectively and the general population except for a higher tendency of reduction (O and X) of the main line C. Concerning the ridge structure in the children, all variations from normal ridges over enlarged sweat gland pores to complete ridge dissociation were found. For the degree of these structural changes and the jontophorese values a correlation coefficient r=+0.39 (p <0.05) resulted. While the frequency of ridge dissociation on the hypothenar is 56.8 % in the children with cystic fibrosis, the parents have a frequency of 23.4%. This value is lying between that of their children and the general population (13.4%).

Adolescent↗
PubMed1979

Kartagener's syndrome and the syndrome of immotile cilia.

Kartagener's syndrome (KS) is a hereditary disease with typical symptoms of situs inversus, bronchiectasis, and chronic infections of the nasal mucosa. Autosomal recessive inheritance cannot be doubted on account of repeated observations of affected sibs and parental cansanguinity. The bronchopulmonary symptoms in sibs, however, cannot be explained by this mode of inheritance. Recent clinical findings and electron microscope investigations suggest that KS is a special form of manifestation within the immotile cilia syndrome. This disease combines the typical bronchial and nasal symptoms of KS with sterility in the male due to immotile sperm tails and, as a facultative symptom, situs inversus. Thus, sibs with bronchiectasis but without situs inversus are also classified under this syndrome. The symptoms mentioned are caused by an abnormal morphology of bronchial cilia and sperm tails, which can be demonstrated by electron microscopy. The dynein arms normally attached to the nine microtubular doublets and providing a normal ciliary movement are lacking. It is assumed that during early embryonic life ciliary beats in the growing embryo determine the type of laterality. When ciliary movements are absent laterality may develop fortuitously, thus effecting a situs inversus in about half the affected cases. The numerical evaluation of pedigrees from the literature supports this assumption.

Cilia↗
PubMed1979

[Recessive microencephaly linked to the X chromosome].

A family with X-linked recessive microcephaly is reported. As patients there were found 8 men or boys respectively out of 3 generations, all of them being related by their mentally healthy mothers. Besides microcephaly the patients showed growth retardation and obesity. Some of them, in addition, had various anomalies as inguinal or umbilical hernias, cryptorchism, tapering fingers, contractures, deeply rooted thumbs and club-feet. There were no hints for a metabolic defect or a chromosomal aberration. The dermatoglyphics could be investigated in 5 patients and showed in all of them a shifting of the axial triradius into the distal position t'. Comparing the own findings with case reports on X-linked microcephalies, the above mentioned family was found not to correspond to any of these observations. It is assumed that in this family, a new disease has occurred which until now has not yet been described, so that the X-linked microcephalies seem to be a heterogenous group of disease from the genetic point of view.

Adult↗
PubMed1978

Kartagener's syndrome in sibs: clinical and immunologic investigations.

In a sibship of ten children descending from a first cousin's marriage, two sibs were affected by Kartagener's syndrome with the typical symptoms of situs inversus, bronchiectasis, and polyposis nasi. Clinical investigation of the entire family revealed chronic infections of the paranasal sinus in five sibs and the mother, two of whom had bronchiectasis as well. Immunologically, a persistent cellular or humoral defect could not be detected in any of the family members. In the HLA system, only the two sibs with Kartagener's syndrome had identical HLA-types; all other family members had different combinations. A linkage between the loci for the HLA system and Kartagener's syndrome is discussed.

Adolescent↗
PubMed1978

[Spongious cerebral dystrophy at an infant age (Canavan-Bogaert-Bertrand types) in three siblings of a non-Jewish family in upper Franconia (author's transl)].

A daughter and two sons of possibly consangineous parents died after motor and mental deterioration at 18, 16 and 15 months of age. Spongy degeneration of the CNS (Canavan-van-Bogaert-Bertrand type) was diagnosed on neuropathological examinationtion; the histological findings were almost identical in the patients. Own clinical experiences are compared with reports from the literature; data important in clinical and differential diagnosis are reviewed. Pathogenetical and etiological aspects are discussed; autosomal recessive inheritance has to be considered in genetic counselling.

Autopsy↗
PubMed1976

[Autosomal dominant hereditary atrial septal defect with heart conduction defects and mitral valve insufficiency].

An autosomal dominant inherited ASD with conduction defects in one family is described. 6 members of 4 generations were fallen ill. In 4 patients the diagnosis was made clinically, in 2 sisters the diagnosis was confirmed by operation. Moreover, the last 2 patients had a mitral insufficiency--probably congenital. The ecg-findings of 4 patients additionally showed conduction defects in form of AV-and bundle branch blocks.

Adult↗
PubMed1975

[Chronic renal failure in bourneville-pringle's disease (author's transl)].

In a 38-year-old woman the process of developing chronic renal failure in Bournevill-Pringle's disease is described. The diagnosis is based on the typical skin lesions as well as the familiary affliction concerning four generations. Only in the fourth generation a brain involvement is detectable. In the presented case cystic mixed tumors of the kidneys are responsible for the renal insufficiency, combined with consecutive pyelonephritis. According to the changing clinical expressivity of this congenital disease it can be deduced, that Pringle's disease is in this case an abortive form of tuberous sclerosis. The basic lesion of tuberous sclerosis is hamartomatous tissue change. The brain, skin, bones and kidneys are the most commonly affected sites.

Adult↗
PubMed1975

[Chromosome investigations in subjects with occupational lead exposure (author's transl)].

The lead content in blood, the excretion of delta-aminolaevulinic acid (ALA) in urine, and the ratio of secondary chromosomal aberrations in lymphocyte cultures were investigated in 105 workers with varying degrees of lead exposure. While the mean lead content was slightly increased (377 plus or minue 207 mug/l) the mean ALA excretion was normal (3,8 plus or minus 4.7 mg/g creatine). Chromosome investigations showed a slightly increased rate of cells with structural abnormalities (14,1 plus or minus 7.0%). Statistical evaluation of these data showed no significant correlation between the lead content in blood, ALA excretion in urine, and cytogenetic findings. No other reason for the increased rate of chromosomal aberrations could be detected.

Aminolevulinic Acid↗
PubMed1975

[Dermatoglyphics in Noonan's syndrome (author's transl)].

Dermatoglyphics in Noonan's Syndrome A dermatoglyphic analysis has been carried out in 7 boys and 5 girls affected by Noonan's syndrome. No deviation from the general population values was found with respect to individual quantitative value, A line termination, absence of C line, a-b ridge count, hypothenar patterns, and presence of p proximal triradius on soles. Whorls were however increased on fingertips and the axial triradius t, as in Turner's syndrome, was in 21% of the cases in position t' or t".

Dermatoglyphics↗