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Biomedical subjects

H Roth

Publications and source records attributed to H Roth.

At least 19 recordsLinked to original sources
PubMed1992

A homology domain shared between Drosophila optomotor-blind and mouse Brachyury is involved in DNA binding.

The distribution of sequence elements divides the optomotor-blind protein into three regions and is suggestive of a transcriptional regulatory role of this protein. The central region of Omb is homologous to the N-terminal half of the Brachyury protein. The conserved domain of Omb is here shown to possess general DNA binding affinity but has no significant similarity to recognized DNA binding motifs.

Amino Acid Sequence↗
PubMed1992

The lethal(1)optomotor-blind gene of Drosophila melanogaster is a major organizer of optic lobe development: isolation and characterization of the gene.

The X-chromosomal complementation unit lethal(1)optomotor-blind [l(1)omb] is defined by lack of complementation among over a dozen recessive lethal mutations that map to the omb gene locus. Mutations in l(1)omb also fail to complement viable mutations of three seemingly unrelated functions in this region: bifid (bi), manifesting defective wings, Quadroon (Qd), a semi-dominant mutation expressing abnormal tergite pigmentation, and In(1)ombH31, giving rise to a normal external morphology but with discrete defects in the optic lobes and behavior. The locus encodes a 70-kilobase primary transcript that is spliced into a 6-kilobase mature RNA. cDNAs for this transcript were isolated and sequenced and the derived amino acid sequence was analyzed. Certain features of this sequence suggest that the l(1)omb gene product is a nuclear regulatory protein. The lethal phase of various apparent null mutants was determined and found to occur mainly in the pupal stage. A large proportion of all hemizygous mutant males develop to pharate adults that eclose only rarely but can be rescued from the pupal case. These animals show a severe maldevelopment of the optic lobes. In addition they have only rudimentary wings as well as a Quadroon-like abdominal pigmentation. Thus, in the lethal mutants those parts of the body are affected for which independent viable mutations have been previously described in the omb locus, such as optomotor-blind, bifid, and Quadroon.

Amino Acid Sequence↗
PubMed1992

Peritoneal morphology in children treated by continuous ambulatory peritoneal dialysis.

Fifty peritoneal biopsies (PB) from 35 patients with end-stage renal disease, treated by continuous ambulatory peritoneal dialysis (CAPD) and aged 2 months to 18 years, were examined by light microscopy (n = 50) and/or scanning electron microscopy. PB were performed during surgical procedures immediately before the start of, during, or after the cessation of CAPD treatment. PB from 15 children without renal disease undergoing laparatomy were examined similarly. Before the start of CAPD, a scarcity and shortening of the mesothelial microvilli was observed by scanning electron microscopy. During and after CAPD, variable alterations of mesothelium, interstitium and capillaries were found. The mesothelial layer was absent in all 5 PB obtained during episodes of active peritonitis. In patients treated by CAPD for longer than 6 months, mesothelial denudation was observed more frequently (6/11) than in children treated for shorter periods (1/7) (P < 0.08). Fibrosis of the peritoneal membrane was present in about 50% of patients during or after the cessation of CAPD without impairment of peritoneal function. No correlation was found between the presence of fibrosis and the frequency of peritonitis or the duration of CAPD treatment.

Adolescent↗
PubMed1992

[Nevus spongiosus et albus mucosae].

An 8-year-old girl with a non-familial case of white sponge nevus (WSN) is presented. The differential diagnosis is discussed with reference to anamnestic, clinical and histopathological data. In keratin expression, WSN resembles the epithelia of the hard palate and the tongue.

Child↗
PubMed1992

[Hidrotic ectodermal dysplasia syndrome--trichooculodermatovertebral syndrome].

We report on a 23-year-old women suffering from a hidrotic ectodermal dysplasia with baldness, xerodermia, kyphosis of the chest, hypopigmented mamillae, disturbances of the menstrual cycle, dysphonia and keratitis punctata superficialis recidivans. The complex condition is classified as a tricho-oculo-dermo-vertebral syndrome. Immunohistological findings suggest a combined alteration of epithelial differentiation of hair follicles and interfollicular epidermis.

Adult↗
PubMed1991

[Tracheal agenesis. A case report].

A case of tracheal agenesis, a rare foregut malformation, is described. This malformation is combined with a tracheo-oesophageal fistula, furthermore with rectal and anal atresia, cardiac malformations, dysplastic kidneys, wedge-shaped vertebrae, and cerebellar hypoplasia. Since a tracheo-oesophageal fistula is a possible component of the VACTERL Association [(V) vertebral defects, (A) anal atresia, (C) cardial malformations, (T) tracheo-(E)-oesophageal fistula, (R) renal or (L) limb malformations], similar cases are reviewed from the literature and their relationship to this association is discussed.

Abnormalities, Multiple↗
PubMed1991

Rare ovarian tumors in childhood.

Between 1972 and 1990 44 patients with ovarian tumors were treated at the Department of Pediatric Surgery of the University of Heidelberg. 27 patients (61%) suffered from tumor-like lesions: neonatal, pubertal (functional) cysts, and cysts in case of syndromes. 17 genuine tumors were found (39%): 8 germ-cell tumors, 7 cystomas respectively cystadenomas and 2 tumors of the gonadal stroma. Malignancy has been observed only in two cases: 1 malignant teratoma and 1 malignant granulosa-theca-cell tumor. 2 tumor-like lesions were caused by syndromes: Albright-McCune-Sternberg- and Stein-Leventhal syndrome: Treatment of uncommon tumors depends on their size, hormonal activity, on the syndromes with which they are associated, and on the tumor status.

Child↗
PubMed1991

A prospective study of hospitalization with gallstone disease among women: role of dietary factors, fasting period, and dieting.

BACKGROUND: Dietary risk factors for the development of gallstones have not been clearly established. We analyzed data from a population-based prospective study to determine dietary risk factors for hospitalization with gallstone disease. METHODS: We evaluated the role of dietary constituents, fasting, and dieting on subsequent hospitalization with gallstone disease among 4,730 women, ages 25 to 74 years, who participated in the first follow-up of the first National Health and Nutrition Examination Survey. Baseline dietary variables were established through a 24-hour dietary recall and a medical history. Proportional hazards models were used to calculate the effects of dietary variables while controlling for baseline risk factors. RESULTS: After an average of 10 years follow-up, gallstone disease was confirmed by hospital records among 216 women who denied gallstone disease at the baseline examination. The hazard rate of hospitalization with gallstone disease increased with increasing overnight fasting period and with dieting. Intake of fiber showed a small protective effect. The effect of energy intake was significant only among women younger than age 50 years at baseline. Results were not affected by adjustment for known risk factors for gallstone disease or other dietary factors. CONCLUSION: A long overnight fasting period, dieting, and low fiber intake may increase the risk of hospitalization with gallstone disease.

Adult↗
PubMed1991

[Familial colonic polyposis and malignant transformation: preventive colectomy in childhood?].

Familial polyposis coli is a classical premalignant disease. Malignancy has been observed as early as the 2nd decade of life. The probability of the development of colorectal cancer rises with age. The problem of prophylactic colectomy in childhood and adolescence is discussed using the example of two sisters whose father died of colorectal cancer at the age of 32.

Adenomatous Polyposis Coli↗
PubMed1991

[The acute abdomen in the neonatal period].

Over a period of 22 years 91 cases of perforation or rupture of the intestinal tract were observed. Necrotising enterocolitis was most frequent (45%) followed by ruptures of congenital atresias of the intestinal tract (32%). In the first 11 years the mortality rate was 50%, in the following second period 25%. Infant birth weight registered in the first period was over 3000 g in 26% of the babies, in the second period in 11.5%. Whereas no child weighing less then 1000 g was admitted to hospital in the first period, 14% of those admitted in the second period did.

Abdomen, Acute↗
PubMed1990

Genetic and molecular characterization of the optomotor-blind gene locus in Drosophila melanogaster.

The Drosophila gene optomotor-blind (omb) is involved in the development of a set of giant neurons in the optic lobes and possibly other structures in the imaginal brain. Adult flies have discrete defects in optomotor behavior. The gene has previously been mapped in chromomeres 4C5-6, together with three other genes, bifid, Quadroon and lacqueredgls. We have localized the gene in a genomic walk of 340 kb of DNA. By mapping seven chromosome breakpoints with omb phenotype we determined its minimum size to about 80 kb. From this region more than 20 RNAs of different size and temporal expression pattern are transcribed. Three of them (T3, T7 and T7') stem from primary transcripts of 40-80 kb in length. In its distal part the omb gene overlaps in at least 19 kb with four other complementation units, bifid, l(1)bifid, Quadroon and lacqueredgls. The three nonlethals affect the external appearance of the fly and seem to be unrelated to brain development.

Animals↗
PubMed1990

[Immunological status of patients with recurrent herpes simplex infections. In vitro effect of thymopoietin and splenin-derived and partially modified peptides on peripheral blood lymphocytes in comparison to a thymus extract].

Immunological studies on 20 patients with frequently recurrent Herpes simplex labialis were performed. Disorders of the cell-mediated immunity were often observed which do not only occur during the relapses. The number of T cells and their function were especially reduced. On the other hand there were no alterations of the CD4/CD8 ratio and the suppressor-activity. In vitro studies with peptides of thymopoietin and splenin justify the assumption that these peptides have therapeutic effects in recurrent herpes simplex infections.

Amino Acid Sequence↗
PubMed1990

[A combination of psoriasis vulgaris and nevus cell nevus--clinical, histopathologic and histochemical findings].

In a study on 76 patients suffering from psoriasis, we found melanocytic nevi (MCN) within psoriatic lesions in 7%, and in perilesional areas of about 2 cm in 13% of the patients. Under magnification (operating microscope), we failed to detect any signs of psoriasis in both the epidermis covering the MCN and the adjacent epidermis. Histopathologically, 6 out of 7 MCN examined did not show any psoriatic alterations of the epidermis, and in all the 7 cases, the adjacent epidermis was free of psoriasis. Using unfixed frozen sections in histochemistry, we studied the lectin binding of FITC-labeled ConA and UEA I in 5 MCN. The epidermal reaction was comparable to that of psoriatic lesions. In contrast to psoriatic lesions, there was no staining of the spinous layer with a polyclonal antiserum against calmodulin, but only the staining of basal cells as in non-lesional psoriasis. We discuss possible 'protective' factors against psoriasis.

Cell Division↗
PubMed1990

[Variability of clinical symptoms in neuronal intestinal dysplasia].

Neuronal intestinal dysplasia is defined as a structural disorder of the innervation of the gut which clinically resembles Hirschsprung's disease. Between 1977 and 1988 12 patients were diagnosed by enzyme histochemistry. In 3 of these patients Hirschsprung's disease was associated. Constipation was the main symptom in 6 patients with neuronal intestinal disease and in all three patients with associated Hirschsprung's disease. The other patients firstly presented with an enterocolitis, a congenital atresia of the jejunum and a chronic enteritis with malabsorption. The wide clinical variability and the lack of a clear therapeutic management valid for all patients is conspicuous.

Acetylcholinesterase↗
PubMed1990

[Life style and quality of life of children and adolescents following malignant tumor disease].

Psychosocial support after the diagnosis of childhood cancer is absolutely necessary to help not only the patients but also the parents, family members, and friends to deal effectively with the emotion and social problems arising from the disease. Psychological support for the whole family, rooming-in facilities on the ward, parent-self-help-groups, social and financial helps reduce problems which flow from such a diagnosis and may develop a positive coping strategy. Experiences over a long period of psychosocial aftercare in the University Hospital of Heidelberg are analyzed and some scientific data of this model are reported.

Adaptation, Psychological↗
PubMed1989

Motility malfunction of the gastrointestinal tract by rare diseases--fibrosis of the intestinal wall.

We report on two children who were admitted with chronic ileus without mechanical obstruction. In the 4-month-old female newborn, high-dose radiation was applied after extirpation of a sympathicoblastoma. Within a few years a metaplasia of the muscle coat of the small intestine developed with a resulting malabsorption syndrome. Although the damaged part of the intestine was resected, the process progressed and the child died. In the second case, a chronic ileus developed at the age of 10 years as a result of fibrosis of the intestinal tract. Repeated laparotomies were performed, and no mechanical obstruction could be found. The most probable diagnosis is a form of scleroderma affecting mainly the alimentary tract without any skin involvement. The patient died in a severe cachexia.

Child↗