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Biomedical subjects

H Roth

Publications and source records attributed to H Roth.

At least 19 recordsLinked to original sources
PubMed1997

Specific and nonspecific lymphadenitis in childhood: etiology, diagnosis, and therapy

Over a period of 4 years, 39 children with lymphadenitis were treated surgically; in 31 cases cervical lymph nodes were the main location. In 9 cases the lymphadenitis was caused by mycobacterial infection. Staphylococcus aureus was the most frequent causative organism of unspecific lymphadenitis (11 cases). The therapy of choice appears to be surgical treatment and medical care after operation. Especially in mycobacterial lymphadenitis, complete surgical excision of the lymph node is decisive for definitive healing. There was only 1 case of therapy-resistant, relapsing cervical lymphadenitis that needed a second operation. Causative organisms in this case were Mycobacterium avium and Mycobacterium intracellulare. All other patients showed an uneventful postoperative clinical course. We believe that a consequent diagnostic process and cooperation between the pediatric surgeon and pediatrician are necessary for effective therapy.

Journal Article↗
PubMed1997

Beta 3-adrenergic-receptor allele distributions in children, adolescents and young adults with obesity, underweight or anorexia nervosa.

OBJECTIVE: The missense mutation (64Trp to 64Arg) in the beta 3-adrenergic-receptor has previously been described to confer a genetic predisposition to the development of obesity. DESIGN: To test the hypothesis we evaluated allele frequencies in children, adolescents and young adults who belonged to different weight groups that were delineated with percentiles for the body mass index (BMI; kg/m2). SUBJECTS: 99 underweight probands (BMI < or = 15th percentile). 80 normal weight probands (BMI: 5th-85th percentile). 238 obese children and adolescents (BMI > or = 97th percentile). 84 patients with anorexia nervosa (AN). MEASUREMENTS: The cohorts were screened by polymerase chain reaction with subsequent restriction fragment length polymorphism (PCR-RFLP) analysis. Data were statistically analysed for association. In addition to these case control studies, the transmission disequilibrium test (TDT) was applied to 80 families of obese probands and to 52 families of patients with AN. RESULTS: Both the tests for association and linkage were negative. The Trp64Arg allele frequencies in the three weight groups (obesity: 0.071; normal weight: 0.081; underweight: 0.056) and the AN patients (0.054) were similar. Extremely obese individuals showed no excess of the Trp64Arg allele. No homozygotes for the Trp64Arg allele were detected. CONCLUSION: Heterozygosity for the Trp64Arg allele is not of major importance in regulation of body weight in individuals younger than 35 y. Additionally, the extreme obese subgroup is not enriched for the polymorphism.

Adolescent↗
PubMed1997

Specific and nonspecific lymphadenitis in childhood: etiology, diagnosis, and therapy.

Over a period of 4 years, 39 children with lymphadenitis were treated surgically; in 31 cases cervical lymph nodes were the main location. In 9 cases the lymphadenitis was caused by mycobacterial infection. Staphylococcus aureus was the most frequent causative organism of unspecific lymphadenitis (11 cases). The therapy of choice appears to be surgical treatment and medical care after operation. Especially in mycobacterial lymphadenitis, complete surgical excision of the lymph node is decisive for definitive healing. There was only 1 case of therapy-resistant, relapsing cervical lymphadenitis that needed a second operation. Causative organisms in this case were Mycobacterium avium and Mycobacterium intracellulare. All other patients showed an uneventful postoperative clinical course. We believe that a consequent diagnostic process and cooperation between the pediatric surgeon and pediatrician are necessary for effective therapy.

Adolescent↗
PubMed1996

Cartographic study: breakpoints in 1574 families carrying human reciprocal translocations.

Reciprocal translocations (rcp) are among the most common constitutional chromosomal aberrations in man. Using a European database of 1574 families carrying autosomal rcp, a cartographic study was done on the breakpoints involved. The breakpoints are non-randomly distributed along the different chromosomes, indicating "hot spots". Breakpoints of rcp that result in descendants that are unbalanced chromosomally at birth are more frequent in a distal position on chromosomal arms, and 65% of them are localised in R-bands. Among the R-bands, bands rich in GC islands and poor in Alu repetitive sequences are more frequently the site of breakpoints, as well as bands that include a fragile site. This result suggests that the variation in degree of methylation in GC islands could be involved in chromosomal breakage and hence in chromosomal rearrangements. The heterogeneity of the human chromosomal structure has been demonstrable by metaphase banding techniques since 1970. In contrast to G-bands, R-bands are sites of high gene concentration (Korenberg et al. 1978), are relatively rich in cytosine plus guanine (GC), and in Alu repetitive DNA sequences (Korenberg and Rykowski 1988). More recently Holmquist (1992) has proposed four types of R-bands, depending on their relative richness in GC and Alu DNA sequences. R-bands rich in GC correspond almost exactly to T-bands (Dutrillaux 1977). They contain 65% of all genes while they represent only 15% of the genome (Holmquist 1992). The aim of this study is to analyse the distribution of the breakpoints along chromosomes from a European database of autosomal rcp in order to relate it to the specificity of different chromosomal regions.

Base Composition↗
PubMed1996

A rare case of an antenatally diagnosed tumor of the neck--a hamartoma of the thyroid gland.

A case of connatal hamartoma of the left thyroid lobe is reported. During routine prenatal ultrasonographic examination, a tumor of the neck was diagnosed. The baby was born at 30 weeks' gestation, and the tumor (measuring 7.0 x 5.5 x 4.2 cm) was extirpated. Histologically, the tumor was a hamartoma of the thyroid gland. Follow-up evaluation (3 and 6 months after resection) showed that the child was doing well and had no signs of hypothyroidism or hypoparathyroidism. The case is discussed with respect to antenatal diagnosis, postpartum diagnostic measures, management, and surgical therapy.

Female↗
PubMed1996

[Resection of nephroblastoma: problems and complications--evaluation of the Nephroblastoma Study SIOP 9/GPOH].

The german SIOP 9/GPOH trial and study registered 486 patients with Wilms' tumor (1/89-3/94). Preoperative chemotherapy was the general approach. The indication for primary surgery was limited (age < 0.5 and > 16 years, uncertainty of diagnosis, emergency). Wilms' tumors were operated in 482 patients (4 died preoperatively) in 78 centres. Surgical and histological reports were analyzed concerning intra- and perioperative problems and complications. A total of 60% of pretreated and 39.8% of untreated tumors had local stage I. Nephroblastomas ruptured intraoperatively in 6.0% after pretreatment versus 11.5% in primary surgery. A tumor thrombus in the inferior vena cava complicated surgery in 3.1% of cases. A total of 14.3% of all histologically positive lymphnodes were correctly biopsied by the surgeon despite their normal macroscopic aspect. The overall rate of intra- and perioperative complications was low.

Adolescent↗
PubMed1996

[Surgical procedure in children with medullary thyroid gland carcinoma with reference to multiple endocrine neoplasia type II].

Between 1988 and 1995 we treated ten patients aged 7-18 years for familial MTC or MEN II syndrome with a total of 17 operations. Using these surgical procedures, 6/9 patients remained free of tumor after 0-8 years (mean 4.5 years). In conclusion, we recommend thyroidectomy [1] in children younger than 5 years of age and a family history of MEN IIa; [2] in children younger than 3 years of age, presenting the characteristic phenotype of MEN IIb, both with a positive test for mutation of the RET protooncogene [4].

Adolescent↗
PubMed1995

Effects of intravenous anesthetic agents on middle cerebral artery blood flow velocity during induction of general anesthesia.

OBJECTIVE: Our objective was to quantify the effects of intravenous anesthetics on values measured by or derived from transcranial Doppler sonography (TCD) during induction of general anesthesia. METHODS: We recorded blood flow velocity in the middle cerebral artery (V-MCA) before, during, and after induction of general anesthesia in six groups of young patients without intracranial pathology (n = 10 each) using TCD. Patients were randomized to receive either 2 mg/kg propofol, 1.5 mg/kg methohexital, 5 mg/kg thiopental, 0.3 mg/kg etomidate, 2 micrograms/kg fentanyl and 0.15 mg/kg midazolam, or 1.5 mg/kg ketamine and 0.15 mg/kg midazolam intravenously. At 2 min after injection, each patient was intubated and given isoflurane 0.8% and nitrous oxide 66% in oxygen. Ventilation was set to achieve an end-tidal PCO2 of 40 mm Hg. V-MCA, arterial blood pressure, heart rate, hematocrit, and PCO2 (venous samples) were measured before and 1, 3, 5, 10, and 30 min after induction of anesthesia. RESULTS: The preinduction data were not different between groups. At 1 min after injection, propofol, thiopental, methohexital, and etomidate significantly decreased V-MCA. TCD values were only slightly affected following fentanyl/midazolam. Ketamine/midazolam induced a modest rise in V-MCA. After endotracheal intubation, V-MCA increased in all groups, and slowly declined thereafter. CONCLUSIONS: Under the circumstances of our study, values derived from TCD measurements responded differently to the agents used to induce general anesthesia in nonneurosurgical patients.

Adult↗
PubMed1995

Mutations disrupting neuronal connectivity in the Drosophila visual system.

The photoreceptor neurons (R cells) of the Drosophila compound eye elaborate a precise array of neuronal connections in the brain. These projections exhibit target specificity and create topographic maps (retinotopy). We have screened histologically for mutations disrupting R cell connectivity in developing tissue. Eighty mutations were isolated from over 6000 ethylmethane sulfonate-mutagenized lines. Characterization of these mutations included genetic mosaic analysis to determine whether the gene is required in the retina or in the optic ganglia. Most mutations were found to affect connectivity indirectly by disrupting development more generally in the eye or brain. Genes were identified as candidates for playing direct roles in R cell connectivity by affecting axonal outgrowth (eddy), target recognition (limbo and nonstop), and retinotopy (limbo).

Animals↗
PubMed1995

Scaphoid nonunion: treatment by open reduction, bone graft, and staple fixation.

Thirty-eight scaphoid nonunions were treated by iliac crest bone grafting and staple fixation. A distractor was inserted through an anterior incision and the scaphoid was distracted to restore its original length. The nonunion was then grafted and held with a staple. Consolidation was achieved in 36 cases despite 6 cases of partial avascular necrosis. Pain at the graft site, which was usually transient, was the only complication. Wrist extension was significantly improved. The main indication for this procedure is pseudarthrosis of the middle third of the scaphoid.

Adolescent↗
PubMed1995

Expression of receptors for advanced glycation end products in peripheral occlusive vascular disease.

The cellular interactions of advanced glycation end products (AGEs), which have been hypothesized to contribute to the development of vascular lesions, occur, at least in part, through their binding to a novel integral membrane protein, the receptor for AGEs (RAGE). Studies of human vascular segments show that endothelial RAGE expression at the antigen and mRNA level was variable and usually at low levels in samples from healthy individuals. In contrast, patients with a range of peripheral occlusive vascular diseases, with or without underlying diabetes, demonstrated prominent enhancement of endothelial RAGE expression. Smooth muscle cells and nerves in the vessel wall showed constitutively high levels of RAGE expression that were unchanged with aging (from 1 to 92 years) or by the presence of vascular disease. These data suggest that RAGE is likely to have ligands other than AGEs, and that multiple factors in addition to AGEs impact on its expression. Taken together, our findings suggest that RAGE may contribute to the pathogenesis of a range of vascular disorders.

Adult↗
PubMed1994

Ileitis hyperplastica follicularis Golden: surgical or conservative treatment?

The authors report on four cases of Golden's syndrome, a rare disease with unknown etiology and controversial therapy. The first two 7-year-old boys had gastrointestinal bleeding; their hemoglobin levels were 7.0 g% and 7.3 g%, respectively. A blood transfusion was required. Both patients underwent gastroscopy and rectoscopy, and no source of bleeding was found. Biopsies were taken during laparotomy, after terminal ileotomy in case one and coecotomy in the other. Bowel resection was not necessary in either case. The third and fourth boys (5 and 6 years old, respectively) were treated conservatively with parenteral nutrition; blood transfusion was not necessary. All four patients recovered within several days. Control colonoscopies 6 months later showed normal mucosa. The authors discuss their diagnostic and therapeutical regime, stressing that in their experience, this rare disease does not require surgical intervention.

Child↗
PubMed1994

Tumor infiltration of the vena cava in nephroblastoma.

Although operative treatment of Wilms' tumors has become more straightforward as a result of advances in preoperative treatment and precise diagnosis, vascular involvement by the tumor can cause serious problems at operation. These problems can be more easily managed if they have been identified pre-operatively and the level of the intravascular tumor thrombus has been defined. In this study we propose a classification of intravascular involvement of Wilms' tumors suggesting the clinical consequences and operative strategy. In our series of 84 patients we treated 7 (8.3%) with preoperatively diagnosed intracaval tumor thrombus using ultrasound as the most sensitive non-invasive diagnostic technique. The surgical therapy depends on the stage; stage III and stage IV should be operated in cooperation with the cardiovascular surgeon in deep hypothermic circular arrest.

Child↗
PubMed1993

Metformin decreases gluconeogenesis by enhancing the pyruvate kinase flux in isolated rat hepatocytes.

Metformin (dimethylbiguanide) has been used for more than 30 years as an antihyperglycemic agent in the treatment of diabetes mellitus, but its effect on gluconeogenesis is still controversial. In isolated hepatocytes from fasted rats, a significant inhibition of glucose production from lactate/pyruvate (10:1, mol/mol), fructose, alanine or glutamine, following metformin addition, is observed. Moreover, in hepatocytes perifused with dihydroxyacetone as the gluconeogenic substrate and treated with 0.5 mM metformin, an inhibition of the glucose flux and a simultaneous stimulation of the lactate/pyruvate flux were observed. This enhancement of lactate/pyruvate formation appears to be due to an effect on the pyruvate-kinase enzyme. A direct effect of metformin on pyruvate kinase cannot explain this result, since pyruvate-kinase activity was not affected by metformin at this concentration. In contrast, the addition of metformin caused a significant decrease in the cellular ATP concentration, a known allosteric inhibitor of this enzyme. This could explain the stimulation of pyruvate-kinase activity following metformin addition and thus the inhibition of gluconeogenesis.

Adenosine Diphosphate↗
PubMed1993

[Nail diseases as a symptom of ectodermal dysplasia and related syndromes].

The nails are often involved in complex dysplasias. The present paper reviews nail manifestations of complex dysplasias, ectrodactylia and selected palmoplantar keratoses with associated symptoms. Some of these are of early diagnostic importance, while others are rare symptoms of complex dysplasias. Mono- and oligosymptomatic syndromes are drawn to the reader's attention.

Diagnosis, Differential↗
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↗