Biomedical subjects

H Joos

Publications and source records attributed to H Joos.

At least 19 recordsLinked to original sources

PubMed2007

[Urogenital injuries accompanying pelvic ring fractures].

BACKGROUND: Follow-up of patients with pelvic ring fractures and associated injuries of the lower urogenital tract was performed from January 2000 to October 2004. Analysis focused on incidence, fracture type, type of urogenital injury, associated intrapelvic lesions, mortality, and urologic outcome. METHOD AND RESULTS: The retrospective study included 18 of 111 patients (16.2%). Nine patients had a rupture of the urethra, six a rupture of the bladder, three a rupture of the penile root, and two a gonadal defect. The type of the pelvic ring fracture according to the AO classification was type A in 1, type B in 6, and type C in 11 cases. Fifteen patients (83.3%) were followed up clinically for a mean duration of 26 months (range: 12-66 months) after trauma. Seven patients were asymptomatic concerning the urogenital injury, five had erectile dysfunction, two had urethral stenosis, in one case associated with incontinence, and one patient with bilateral defect of the testicles was under hormone substitution therapy. CONCLUSION: Urogenital injuries, often associated with intrapelvic lesions in so-called complex pelvic trauma, are typical for high-grade pelvic ring fractures and have an essential prognostic value for the patient's morbidity and quality of life.

Adolescent↗

PubMed2005

SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.

Severe myoclonic epilepsy in infancy (SMEI), severe idiopathic generalized epilepsy of infancy (SIGEI) with generalized tonic clonic seizures (GTCS), and myoclonic astatic epilepsy (MAE) may show semiological overlaps. In GEFS+ families, all three phenotypes were found associated with mutations in the SCN1A gene. We analyzed the SCN1A gene in 20 patients with non-familial myoclonic astatic epilepsy -- including 12 probands of the original cohort used by Doose et al. in 1970 to delineate MAE. In addition, 18 patients with sporadic SIGEI -- mostly without myoclonic-astatic seizures -- were analyzed. Novel SCN1A mutations were found in 3 individuals. A frame shift resulting in an early premature stop codon in a now 35-year-old woman with a borderline phenotype of MAE and SIGEI (L433fsX449) was identified. A splice site variant (IVS18 + 5 G --> C) and a missense mutation in the conserved pore region (40736 C --> A; R946 S) were detected each in a child with SIGEI. We conclude that, independent of precise syndromic delineation, myoclonic-astatic seizures are not predictive of SCN1A mutations in sporadic myoclonic epilepsies of infancy and early childhood.

Child↗

PubMed2004

Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.

Mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1) account for approximately 20% of patients with familial amyotrophic lateral sclerosis (FALS). In this study, sequence analysis of exons 1-5 of SOD1 in a large German cohort with FALS was performed. Among 75 affected patients, who were not obviously related probands with a positive family history, nine had missense mutations in SOD1. Four of the nine probands carry the same R115G mutation in exon 4 of the SOD1 gene. Genotyping with markers from the SOD1 locus revealed a common haplotype and shared allelic characteristics in these patients. These findings suggest that the R115G mutation in the German population originates from a common founder.

Adult↗

PubMed2001

Radiotherapy of testicular intraepithelial neoplasia (TIN): a novel treatment regimen for a rare disease.

PURPOSE: Testicular intraepithelial neoplasia (TIN) is a consistent precursor of most invasive germ cell tumors, currently treated by radiotherapy with 20 Gy, which destroys TIN but preserves Leydig cells. Nevertheless, analysis has shown dose-dependent dysfunction even with low therapeutic doses of 20 Gy in some cases. Therefore, we tested a dose reduction regimen by delivering smaller fractional doses to enhance the tolerance of Leydig cells. METHODS AND MATERIALS: Between 1993 and 1999, 9 patients were treated for TIN in a prospective multicenter trial. A total dose of 13 Gy was administered in 10 fractions of 1.3 Gy. Hormonal levels of follicle-stimulating hormone, luteinizing hormone, and testosterone were assayed serially. RESULTS: During a median follow-up time of 36 months, no patient showed evidence of local disease. A first postradiation biopsy was obtained 3-12 months after radiotherapy; 5 patients underwent a second biopsy 2-3 years after treatment. All biopsies showed a Sertoli cell-only pattern. Follicle-stimulating hormone levels continued to increase 1 year after radiotherapy, signaling eradicated spermiogenesis. Luteinizing hormone and testosterone remained within the normal range 2 years after radiotherapy. CONCLUSIONS: In the treatment of TIN, there seems to be a dose reduction potential to 13 Gy by lowering single fractional doses, which enhances the therapeutic ratio in favor of the Leydig cells.

Adult↗

PubMed1999

FMIP, a novel Fms-interacting protein, affects granulocyte/macrophage differentiation.

Hematopoietic cell growth, differentiation, and commitment to a restricted lineage are guided by a set of cytokines acting exclusively on cells expressing the corresponding cytokine receptor. The macrophage colony stimulating factor (M-CSF, also termed CSF-1) and its cognate receptor, the tyrosine kinase c-Fms, are essential for monocyte and macrophage development. The underlying molecular mechanism, however, is poorly understood. Here we identified a novel Fms-interacting protein (FMIP, MW 78 kDa) which binds transiently via its N-terminal 144 residues to the cytoplasmic domain of activated Fms-molecules. Binding of FMIP was paralleled by rapid tyrosine phosphorylation within the binding domain which drastically reduced its ability to associate with Fms. Binding was specific as evidenced by co-immunoprecipitation and association with recombinant GST-Fms fusion proteins. No binding was observed with the tyrosine phosphorylated cytoplasmic domains of c-Kit, TrkA, c-Met, and the insulin receptor. The role of FMIP in hematopoietic differentiation was studied in the bipotential myeloid progenitor cell line, FDC-P1Mac11. Overexpression of FMIP prevented M-CSF induced macrophage differentiation. Instead, cells differentiated into granulocytes. Our data suggest that the level of FMIP expression could form a threshold that decides about differentiation either into macrophages or into granulocytes.

Amino Acid Sequence↗

PubMed1999

[Long-term tumor control and fertility after para-aortic limited radiotherapy of stage I seminoma].

PURPOSE: To review patterns of relapse in a long-term analysis of patients with Stage I seminoma treated by orchidectomy and radiotherapy to the paraaortic lymph nodes only and to follow follicle stimulating hormone (FSH) levels dependent on testicular scatter dose. PATIENTS AND METHODS: From 1980 to 1995, 58 patients with Stage I seminoma received elective radiotherapy to the paraaortic lymph nodes only (Th12 to L4), with a mean total dose of 28.07 Gy (+/- 2.2 SD), using fractional doses between 1.5 and 2 Gy (mean 1.62 Gy +/- 0.083 SD). Since 1989, testicular scatter doses were measured routinely by in-vivo thermoluminescent dosimetry (TLD) in 45 patients. In 26 patients with normal pre-treatment values of FSH, FSH-levels were repeatedly controlled after radiotherapy in order to evaluate any radiation-induced sequelae. RESULTS: During a mean observation period of 69.4 months (range 30 to 210), 2 out of 57 patients (3.5%) developed regional recurrences in the ipsilateral pelvic lymph nodes 14 months and 5 years after radiotherapy, respectively. One patient was lost to follow-up. The relapse-free survival rate at 5 years was 96.5% after radiotherapy alone. After salvage chemotherapy, both relapse-free survival and overall survival rates come to 100%. The mean testicular scatter dose in 45 patients was 0.22 Gy (+/- 0.087 SD). Seven out of 26 patients (26.9%) developed a transient increase of FSH-levels, reaching peak values at 4.2 months and returning to normal ranges within 18 months after radiotherapy. Below 0.2 Gy, no effect on FSH was observed. Testicular scatter doses showed no clear correlation to FSH risings (Figure 1). CONCLUSION: After exclusive paraaortic radiation of Stage I seminoma, even at follow-up periods in excess of 5 years the incidence of pelvic lymph node relapses remains below 4%. However, there seems to be a small potential for the development of late recurrences. With limited radiotherapy, permanent radiation-induced effects on the remaining testicle are very unlikely.

Adult↗

PubMed1997

Identification of a second Grb2 binding site in the v-Fms tyrosine kinase.

Tyrosine autophosphorylation of the v-Fms oncogene product results in the formation of high-affinity binding sites for cellular proteins containing Src homology 2 (SH2) domains. These proteins transduce various mitogenic and morphogenic signals. As reported previously, Y696KNI in the kinase insert domain of v-Fms binds to the growth factor receptor bound protein 2 (Grb2), a stimulator of the Ras/Raf1 pathway. Here, we mapped Y921TNL within the C-terminal domain of Fms as a novel autophosphorylation site. We demonstrate that this site constitutes a second Grb2 binding site: a recombinant fusion protein (residues 904-944) containing phosphorylated Y921 bound Grb2 from FDCP-1Mac11 cell extracts significantly more efficiently than a corresponding protein (residues 617-759) containing Y696. A yeast two-hybrid system which allowed the formation of a functional Fms tyrosine kinase was employed to quantify binding of Grb2. Fms-protein containing either one of the two phosphorylation sites bound Grb2 equally well, binding was increased for proteins carrying both sites. In contrast, the simultaneous substitution of Y696 and Y921 by phenylalanines abolished Grb2 binding. Mouse NIH3T3 cells expressing the Y921F mutant Fms-protein showed a substantially higher content of fibronectin network than wild-type transformed cells and had largely lost their serum independent growth phenotype.

3T3 Cells↗

PubMed1997

Endocrine profiles after radiotherapy in stage I seminoma: impact of two different radiation treatment modalities.

BACKGROUND AND PURPOSE: In patients with stage I seminoma treated with elective lymph node irradiation, testicular scatter doses are often thought to be responsible for later disturbances in fertility. We studied the influence of radiation field extensions and testicular doses on hormonal function. MATERIALS AND METHODS: FSH (follicle stimulating hormone) and LH (luteinizing hormone) were evaluated before radiotherapy (RT) and by serial analyses after treatment for 4 years. Twenty-three patients were irradiated by hockey stick fields with a mean dose of 31.9 Gy (+/-4.7 SD) and a mean scatter dose of 54 8 cGy (+/-16.6 SD). Twenty-one patients received limited RT to the paraaortic nodes with 28.1 Gy (+/-2.4 SD). The mean testicular dose was only 25 cGy (+/-7.8 SD). All patients had normal pre-treatment hormonal values. RESULTS: Six months after the end of RT, mean FSH values were significantly elevated in the hockey stick group (P = 0.032), returning to normal after 3 years. The increase in LH was also significant, but stayed within normal ranges. Limited RT resulted in a minimal, dose-dependent increase of FSH; no changes in LH were noted. CONCLUSIONS: In patients with a normal hormonal status after semicastration, FSH is a reliable monitor for transient radiation-induced effects. To avoid treatment-related disturbances in spermatogenesis, scatter doses should be reduced to less than 20 cGy.

Adult↗

PubMed1997

alpha-Glucosidase activity in the rat epididymis under different physiological conditions.

The estimation of alpha-glucosidase activity in semen is widely used as a marker of epididymal function. In the present studies, glucosidase activity was evaluated in the different segments of the rat epididymis under various physiological conditions. In addition, the effect of two known male antifertility agents, gossypol and alpha-chlorohydrin, on enzyme activity was evaluated. Enzyme activity was absent from the epididymis of rats aged 10 and 20 days but became detectable at 30 days of age when the adult pattern of distribution (highest activity in the caput epididymis) was established. Enzyme activity was reduced significantly in all segments of the epididymis at 7 days after castration and a significant decrease in activity was also observed following the administration of either gossypol or alpha-chlorohydrin. These findings are consistent with a role for alpha-glucosidase in sperm maturation in the epididymis.

Aging↗

PubMed1996

Tyrosine phosphorylation of the juxtamembrane domain of the v-Fms oncogene product is required for its association with a 55-kDa protein.

Tyrosine autophosphorylation of the v-Fms oncogene product results in the formation of high affinity binding sites for cellular proteins with Src homology 2 (SH2) domains that are involved in various signal cascades. Tryptic digestion of the autophosphorylated v-Fms and of its cellular counterpart, the feline c-Fms polypeptide, gave rise to at least six common major phosphopeptides, four of which have been characterized previously. Employing site-directed mutagenesis and phosphopeptide mapping of in vitro phosphorylated glutathione S-transferase v-Fms fusion proteins as well as full-length v-Fms molecules expressed in various cells, we show here that Tyr543 of the juxtamembrane domain and Tyr696 of the kinase insert domain constitute major autophosphorylation sites. Recombinant fusion proteins containing the tyrosine-phosphorylated kinase insert domain bind the growth factor receptor bound protein 2 and the p85 and p110 subunits of phosphatidylinositol 3'-kinase. In contrast, fusion proteins containing the juxtamembrane domain phosphorylated on Tyr543 fail to bind any of the known SH2 domain-containing cellular proteins but associate specifically with an as yet undefined 55-kDa cellular protein that by itself is phosphorylated on tyrosine.

3T3 Cells↗

PubMed1995

Characterization and heterologous expression of the tetL gene and identification of iso-ISS1 elements from Enterococcus faecalis plasmid pJH1.

The tetracycline-resistance (TcR) determinant of the Enterococcus faecalis plasmid pJH1 has been identified and located on a 2.2-kb RsaI-EcoRI fragment. The fragment was cloned in Escherichia coli, and specified TcR in this host. The nucleotide (nt) sequence of the cloned fragment showed the presence of an open reading frame (ORF) of 1374 bp, designated tetL. The nt sequence of tetL from pJH1 was identical to that of the tetL present on pLS1 from Streptococcus agalactiae. Upstream of the pJH1 tetL, part of another ORF was found that, except for two single-nt substitutions, was identical to an iso-ISS1 element from Lactococcus lactis. Hybridization studies indicated the presence of several ISS1-like elements in plasmid pJH1, but not on the En. faecalis chromosome. To study its usefulness as a marker in Gram+ organisms, the pJH1 tetL was cloned on the broad-host-range plasmid pNZ124, resulting in pNZ280, that was found to give resistance to 40 micrograms Tc/ml in Lc. lactis and Bacillus subtilis.

Amino Acid Sequence↗

PubMed1994

Mediastinal tumor and Klinefelter's syndrome.

Klinefelter's syndrome with karyotype 47,XXY in patients with primary extragonadal germ cell tumors rarely occurs. The endocrinology of Klinefelter's syndrome is changed; elevated beta-human choriomic gonadotropin levels are present. Chemotherapy and thoracic surgery brought complete remission in a patient with lung metastases.

Adolescent↗

PubMed1994

[Breast metastasis in renal cell carcinoma].

The breast is an unusual site for metastatic extra-mammalian tumors, for instance for renal cell carcinoma. In the literature only few cases are reported. Our two cases show the possibility of different metastatic forms in hypernephroma after nephrectomy 5 and 6 years before.

Biopsy↗

PubMed1993

[Endocrinology and fertility in stage I testicular tumor].

The situation of endocrinology and fertility of patients suffering from testicular cancer stage I (Peckham) with good survival rates were evaluated before semicastration. The value of beta-hCG is of great importance. According to this criteria 3 groups were formed. beta-hCG positive tumors, beta-hCG positive tumors out of the blood sample of the vena spermatica after ablation of the testis tumor and beta-hCG negative tumors. The histology is of secondary importance. 54 patients with testicular cancer were evaluated in this study. From 37 patients it was possible to get a spermiogram before semicastration. For the analysis of the spermiogram the values of LH, FSH, Testosterone and E2 are responsible. The values of beta-hCG in the serum from the periphery is of great importance, while a single elevation of beta-hCG in the serum out of the v.spermatica does not change the endocrinology. The question of kryosperm conservation is according to these parameters better evaluable.

Adult↗

PubMed1992

Long-term follow-up after extracorporeal shock wave lithotripsy of large kidney stones.

In 76 patients (53 women and 23 men) aged 24-92 years, extracorporeal shock wave lithotripsy (ESWL) was performed between June 1986 and December 1988 as monotherapy for large kidney stones (diameter > 2.5 cm). There were 41 complete and 24 partial staghorn calculi. The patients were treated with the Dornier HM3 lithotripter under sedoanalgesia. Of the 60 patients with large stones whose last ESWL treatment had been at least 24 months earlier, only 15 ultimately came for this long-term control check-up. Reports on 15 other patients were received from their doctors stating that the patients were doing well, not having new stone episodes. These subjects had to be excluded from final evaluation since they did not fulfill all requirements. Thirty patients had either moved out of the area or were from distant locations and therefore unable to appear. Creatinine was normal and urinalyses negative in these 15 patients; 12/15 were stone-free. The ones who were not had small remnants in the lower pole calices which did no harm at all. One patient already had elevated pretreatment blood pressure; 6/14 with normal blood pressure before ESWL showed elevated values 30 or more months after the last ESWL. Radioisotope examinations with separate clearance tests demonstrated no real evidence of loss of kidney function on the treated in comparison with the untreated side. Sonographic findings on the longitudinal and transverse diameter of the treated and untreated kidneys with regard to the total number of shock waves did not show marked differences as they all remained below the 9% limit.

Adult↗

PubMed1992

Long term follow-up after ESWL of large kidney stones.

In 76 patients (53 women and 23 men) aged 24-92 years, extracorporeal shock wave lithotripsy (ESWL) was performed between June 1986 and December 1988 as monotherapy for large kidney stones (diameter > 2.5 cm). There were 41 complete and 24 partial staghorn calculi. The patients were treated with the Dornier HM3 lithotripter under sedoanalgesia. Of the 60 patients with large stones whose last ESWL treatment was at least 24 months earlier, only 15 ultimately came for this long-term control check-up. Reports on 15 other patients were received from their doctors stating that the patients were doing well, not having new stone episodes. These subjects had to be excluded from final evaluation since they did not fulfill all requirements. Thirty patients had either moved out of the area or were from distant locations and therefore unable to appear. Creatinine was normal and urinalyses negative in these 15 patients; 12/15 were stone-free. The ones who were not had small remnants in the lower pole calices which did no harm at all. One patient already had elevated pretreatment blood pressure; 6/14 with normal blood pressure before ESWL showed elevated values 30 or more months after hte last ESWL. Radio-isotope examinations with separate clearance tests demonstrated no real evidence of loss of kidney function on the treated in comparison with the untreated side. Sonographic findings on the longitudinal and transverse diameter of the treated and untreated kidneys with regard to total number of shock waves did not show marked differences as they all remained below the 9% limit.

Adult↗

PubMed1991

Risk factors for bilateral testicular germ cell tumors. Does heredity play a role?

Twenty-three bilateral testicular germ cell tumors (four synchronous and 19 sequential tumors) were investigated for potential risk factors. The incidence of maldescensus testis was not found to be higher than in patients with unilateral disease. The histologic findings of the first tumor did not have any effect on the incidence of the second tumor. In 21 patients (four synchronous and 17 sequential tumors), histocompatibility antigens (HLA) were determined; HLA-B14 was increased significantly in the sequential tumor group. Tendencies toward an increase of HLA-DR5 and HLA-DR7 also were found. The HLA-DR1, HLA-DR3, and HLA-DR4 showed a tendency toward a decreased frequency. Therefore genetic factors might be important in the development of sequential bilateral testicular cancers.

Adult↗

PubMed1991

[MRT of bladder carcinoma: tumor staging and gadolinium contrast behavior].

33 patients with tumours of the urinary bladder were studied via MR, both with and without the paramagnetic contrast medium Gd-DTPA. Results were compared with the final pathological classification after TUER and bimanual palpation. The signal intensity ratio of tumour tissue/fat and tumour/muscle were calculated on T1 weighted images and after GD-DTPA and examined for their statistical significance. The increase in signal intensity of the tumours was statistically significant (Wilcoxon test p less than 0.01). There was no advantage for the T2 weighted images compared with Gd-contrasted enhanced T1 weighted images. MRI staging was correct in 28 out of 33 cases (accuracy 84.8%). Because of the relatively short acquisition time of T1 weighted images and the specific tumour enhancement, administration of Gd-DTPA proved to be of help in the staging of the carcinoma of the bladder. Two small tumours and regressive changes in central areas of tumours were recognised after Gd-DTPA.

Adult↗