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  1. Artikel: Role of ultrasound in the imaging of posterior urethral valves.

    Bosio, Maurizio

    Rays

    2002  Band 27, Heft 2, Seite(n) 135–139

    Abstract: The intrinsic abnormalities of male urethra causing urinary obstruction are frequently responsible for renal insufficiency, sometimes present at birth. The rare but typical malformations such as the posterior urethral valves represent major deviations ... ...

    Abstract The intrinsic abnormalities of male urethra causing urinary obstruction are frequently responsible for renal insufficiency, sometimes present at birth. The rare but typical malformations such as the posterior urethral valves represent major deviations from the normal embryonic development, and require prompt identification and surgical correction. Since the symptoms and signs that suggest the presence of abnormalities of the urinary tract are sometimes vague and nonspecific, in the majority of cases voiding cystourethrography (VCUG) performed in children depicts a normal urethra. To prevent the X-ray hazard, voiding cystourethrosonography (VCUS), i.e. contrast-enhanced dynamic ultrasonography of the urinary tract, was introduced. This article reviews the possibilities, advantages and limitations of this new ultrasonographic technique performed consecutively in 231 0-15 year-old male patients, whose normal and obstructive urethral patterns were clearly visualized; the latter were all confirmed by VCUG and interventional cystourethroscopy.
    Mesh-Begriff(e) Adolescent ; Child ; Child, Preschool ; Contrast Media ; Humans ; Infant ; Infant, Newborn ; Male ; Polysaccharides ; Ultrasonography ; Urethra/abnormalities ; Urethra/diagnostic imaging ; Urethral Diseases/diagnostic imaging
    Chemische Substanzen Contrast Media ; Polysaccharides ; SHU 508 (127279-08-7)
    Sprache Englisch
    Erscheinungsdatum 2002-04
    Erscheinungsland Italy
    Dokumenttyp Journal Article
    ZDB-ID 433401-2
    ISSN 0390-7740
    ISSN 0390-7740
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Voiding cystourethrosonography for the diagnosis of vesicoureteral reflux in a developing country.

    Xhepa, Rezar / Bosio, Maurizio / Manzoni, Gianantonio

    Pediatric nephrology (Berlin, Germany)

    2004  Band 19, Heft 6, Seite(n) 638–643

    Abstract: The primary causes of renal insufficiency in Albanian children are reflux nephropathy and obstructive uropathies. The poor availability and technical quality of conventional radiological imaging in detecting vesicoureteral reflux (VUR) and lower urinary ... ...

    Abstract The primary causes of renal insufficiency in Albanian children are reflux nephropathy and obstructive uropathies. The poor availability and technical quality of conventional radiological imaging in detecting vesicoureteral reflux (VUR) and lower urinary tract obstruction stimulated this pilot study, with the aim of evaluating the diagnostic efficacy of voiding cystourethrosonography (CUS). The study included 34 patients (aged 0.1-14 years) with acute pyelonephritis, 7 of whom already had renal insufficiency. In 22 patients voiding cystourethrography (VCUG) was also performed and a diagnostic concordance of 66.6% between the two techniques was found. Overall CUS showed a sensitivity superior to VCUG in detecting VUR, partly due to technical problems in performing the fluoroscopic examination. For the same reasons, VCUG missed 1 diagnosis of posterior urethral valves, while CUS correctly identified all 4 patients with this diagnosis. In 34 patients, CUS diagnosed 55 cases of grade II-V VUR and 11 urinary tract malformations; 12 patients underwent surgical intervention, some of them on the basis of CUS only. The follow-up of 31-81 (mean 53) months after CUS was completed by 94% of patients, excluding complications due to missed diagnoses. CUS was demonstrated to be a safe, reliable, and reproducible imaging modality without X-ray hazards that could be useful in developing countries. The potential limiting factors of the technique include the operator's training and experience and the costs of the contrast medium.
    Mesh-Begriff(e) Adolescent ; Albania ; Child ; Child, Preschool ; Developing Countries ; Fluoroscopy ; Humans ; Infant ; Kidney/diagnostic imaging ; Kidney/pathology ; Pilot Projects ; Reproducibility of Results ; Sensitivity and Specificity ; Sound Spectrography ; Ultrasonography ; Urethra/diagnostic imaging ; Urethra/pathology ; Urinary Bladder/diagnostic imaging ; Urinary Bladder/pathology ; Vesico-Ureteral Reflux/diagnostic imaging ; Vesico-Ureteral Reflux/pathology
    Sprache Englisch
    Erscheinungsdatum 2004-06
    Erscheinungsland Germany
    Dokumenttyp Comparative Study ; Journal Article
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-004-1439-7
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel: A particular phenotype in a girl with aldosterone synthase deficiency.

    Williams, Tracy A / Mulatero, Paolo / Bosio, Maurizio / Lewicka, Sabina / Palermo, Mario / Veglio, Franco / Armanini, Decio

    The Journal of clinical endocrinology and metabolism

    2004  Band 89, Heft 7, Seite(n) 3168–3172

    Abstract: Aldosterone synthase deficiency (ASD) usually presents in infancy as a life-threatening electrolyte imbalance. A 4-wk-old child of unrelated parents was examined for failure to thrive and salt-wasting. Notable laboratory findings were hyperkalemia, high ... ...

    Abstract Aldosterone synthase deficiency (ASD) usually presents in infancy as a life-threatening electrolyte imbalance. A 4-wk-old child of unrelated parents was examined for failure to thrive and salt-wasting. Notable laboratory findings were hyperkalemia, high plasma renin, and low-normal aldosterone levels. Urinary metabolite ratios of corticosterone/18-hydroxycorticosterone and 18-hydroxycorticosterone/aldosterone were intermediate between ASD type I and type II. Sequence analysis of CYP11B2, the gene encoding aldosterone synthase (P450c11AS), revealed that the patient was a compound heterozygote carrying a previously described mutation located in exon 4 causing a premature stop codon (E255X) and a further, novel mutation in exon 5 that also causes a premature stop codon (Q272X). The patient's unaffected father was a heterozygous carrier of the E255X mutation, whereas the unaffected mother was a heterozygous carrier of the Q272X mutation. Therefore, the patient's CYP11B2 encodes two truncated forms of aldosterone synthase predicted to be inactive because they lack critical active site residues as well as the heme-binding site. This case of ASD is of particular interest because despite the apparent lack of aldosterone synthase activity, the patient displays low-normal aldosterone levels, thus raising the question of its source.
    Mesh-Begriff(e) Binding Sites ; Codon, Nonsense ; Codon, Terminator ; Cytochrome P-450 CYP11B2/deficiency ; Cytochrome P-450 CYP11B2/genetics ; Cytochrome P-450 CYP11B2/metabolism ; Female ; Glutamic Acid ; Glutamine ; Heterozygote ; Humans ; Infant, Newborn ; Molecular Biology ; Mutation ; Phenotype ; Polymerase Chain Reaction ; Receptors, Mineralocorticoid/metabolism ; Steroid Metabolism, Inborn Errors/genetics ; Steroid Metabolism, Inborn Errors/metabolism
    Chemische Substanzen Codon, Nonsense ; Codon, Terminator ; Receptors, Mineralocorticoid ; Glutamine (0RH81L854J) ; Glutamic Acid (3KX376GY7L) ; Cytochrome P-450 CYP11B2 (EC 1.14.15.4)
    Sprache Englisch
    Erscheinungsdatum 2004-07
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/jc.2003-031912
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel: Prescription of drugs blocking the renin-angiotensin system in Italian children.

    Bianchetti, Mario G / Ammenti, Anita / Avolio, Luigi / Bettinelli, Alberto / Bosio, Maurizio / Fossali, Emilio / La Manna, Angela / Maringhini, Silvio / Pela, Ivana / Ratsch, Ilse M / Viganò, Sara / Ardissino, Gianluigi

    Pediatric nephrology (Berlin, Germany)

    2007  Band 22, Heft 1, Seite(n) 144–148

    Abstract: Little is known about the prescription pattern of antihypertensive drugs for children with impaired kidney function. We have therefore documented the use of antihypertensive drugs in this patient group by evaluating the Italian pediatric population-based ...

    Abstract Little is known about the prescription pattern of antihypertensive drugs for children with impaired kidney function. We have therefore documented the use of antihypertensive drugs in this patient group by evaluating the Italian pediatric population-based registry of patients with chronic kidney disease on conservative treatment (ItalKid) from 1995 to 2003. In 1995, prescriptions written for antihypertensive drugs for use by children were approximately equally divided among drugs blocking the renin-angiotensin system and calcium channel blockers (38 vs. 43% of all prescriptions), followed by beta-blockers and diuretics (15 and 4%, respectively). During subsequent years the proportion of prescriptions for drugs blocking the renin-angiotensin system increased (2003: 61%; p<0.001) and that of calcium channel blockers decreased (2003: 18%, p<0.001). In 1995, blockers of the renin-angiotensin system were prescribed, either as monotherapy or in combination, in 53% of the patients, but the relative frequency of the patients prescribed these drugs increased up to 83% in 2003 (p<0.0005). In conclusion, physicians caring for Italian children with impaired kidney function are increasingly prescribing drugs blocking the renin-angiotensin system.
    Mesh-Begriff(e) Adolescent ; Adrenergic beta-Antagonists/therapeutic use ; Adult ; Antihypertensive Agents/therapeutic use ; Calcium Channel Blockers/therapeutic use ; Child ; Child, Preschool ; Diuretics/therapeutic use ; Drug Utilization/statistics & numerical data ; Drug Utilization/trends ; Humans ; Italy ; Kidney Diseases/drug therapy ; Practice Patterns, Physicians'/statistics & numerical data ; Practice Patterns, Physicians'/trends ; Registries ; Renin-Angiotensin System/drug effects
    Chemische Substanzen Adrenergic beta-Antagonists ; Antihypertensive Agents ; Calcium Channel Blockers ; Diuretics
    Sprache Englisch
    Erscheinungsdatum 2007-01
    Erscheinungsland Germany
    Dokumenttyp Evaluation Studies ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-006-0293-1
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Hypertension from Ipsilateral Renin Hypersecretion following Kidney Upper Pole Compression by the Spleen

    Bosio, Maurizio / Beluffi, Giampiero

    American Journal of Nephrology

    1984  Band 4, Heft 4, Seite(n) 256–259

    Abstract: A unique case of renovascular hypertension in an asymptomatic, microhematuric 6½-year-old girl is presented. Abdominal ultrasonographic (UT) and computed tomographic (CT) studies, splenic and renal radionuclide evaluations revealed that a ‘boomerang’- ... ...

    Abstract A unique case of renovascular hypertension in an asymptomatic, microhematuric 6½-year-old girl is presented. Abdominal ultrasonographic (UT) and computed tomographic (CT) studies, splenic and renal radionuclide evaluations revealed that a ‘boomerang’-shaped spleen, anterior and medial to the left kidney, compressed and flattened its upper pole. Arteriography excluded stenosis of the renal arterial vessels. Renal vein renin ratio of 1.78 and contralateral/caval ratio of 1.13 eventually demonstrated that hypertension was caused by a lateralized renin hypersecretion from the compressed upper pole through left superior and central renal veins. Overactivity of the renin/angiotensin system was presumably due to ischemia of the renal parenchyma extrinsically compressed by the spleen.
    Schlagwörter Kidney ; Kidney, polar compression ; Hypertension ; Renin ; Spleen ; Spleen dysmorphism
    Sprache Englisch
    Verlag S. Karger AG
    Erscheinungsort Basel
    Erscheinungsland Switzerland
    Dokumenttyp Artikel ; Online
    ZDB-ID 604540-6
    ISSN 1421-9670 ; 0250-8095 ; 0250-8095
    ISSN (online) 1421-9670
    ISSN 0250-8095
    DOI 10.1159/000166821
    Datenquelle Karger Verlag

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  6. Artikel: COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

    Longo, Ilaria / Porcedda, Paola / Mari, Francesca / Giachino, Daniela / Meloni, Ilaria / Deplano, Carla / Brusco, Alfredo / Bosio, Maurizio / Massella, Laura / Lavoratti, Giancarlo / Roccatello, Dario / Frascá, Giovanni / Mazzucco, Gianna / Muda, Andrea Onetti / Conti, Maura / Fasciolo, Federica / Arrondel, Christelle / Heidet, Laurence / Renieri, Alessandra /
    De Marchi, Mario

    Kidney international

    2002  Band 61, Heft 6, Seite(n) 1947–1956

    Abstract: Unlabelled: COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome.: Background: Mutations of the type IV collagen COL4A5 gene cause X-linked Alport syndrome (ATS). Mutations of COL4A3 and COL4A4 have been ...

    Abstract Unlabelled: COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome.
    Background: Mutations of the type IV collagen COL4A5 gene cause X-linked Alport syndrome (ATS). Mutations of COL4A3 and COL4A4 have been reported both in autosomal-recessive and autosomal-dominant ATS, as well as in benign familial hematuria (BFH). In the latter conditions, however, clinical features are less defined, few mutations have been reported, and other genes and non-genetic factors may be involved.
    Methods: We analyzed 36 ATS patients for COL4A3 and COL4A4 mutations by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and direct sequencing. Sporadic patients who had tested negative for COL4A5 mutations were included with typical cases of autosomal recessive ATS to secure a better definition of the phenotype spectrum.
    Results: We identified seven previously undescribed COL4A3 mutations: in two genetic compounds and three heterozygotes, and one in COL4A4. In agreement with the literature, some of the mutations of compound heterozygotes were associated with microhematuria in healthy heterozygous relatives. The mutations of heterozygous patients are likely dominant, since no change was identified in the second allele even by sequencing, and they are predicted to result in shortened or abnormal chains with a possible dominant-negative effect. In addition, both genes showed rare variants of unclear pathogenicity, and common polymorphisms that are shared in part with other populations.
    Conclusions: This study extends the mutation spectrum of COL4A3 and COL4A4 genes, and suggests a possible relationship between production of abnormal COL IV chains and dominant expression of a continuous spectrum of phenotypes, from ATS to BFH.
    Mesh-Begriff(e) Adult ; Alleles ; Autoantigens/genetics ; Base Sequence/genetics ; Collagen Type IV/genetics ; Female ; Genes, Dominant ; Genes, Recessive ; Hematuria/genetics ; Heterozygote ; Humans ; Male ; Molecular Sequence Data ; Mutation/genetics ; Nephritis, Hereditary/genetics ; Pedigree
    Chemische Substanzen Autoantigens ; COL4A4 protein, human ; Collagen Type IV ; type IV collagen alpha3 chain
    Sprache Englisch
    Erscheinungsdatum 2002-06
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1046/j.1523-1755.2002.00379.x
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel: Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

    Sartorato, Paola / Lapeyraque, Anne-Laure / Armanini, Decio / Kuhnle, Ursula / Khaldi, Yasmina / Salomon, Rémi / Abadie, Véronique / Di Battista, Eliana / Naselli, Arturo / Racine, Alain / Bosio, Maurizio / Caprio, Massimiliano / Poulet-Young, Véronique / Chabrolle, Jean-Pierre / Niaudet, Patrick / De Gennes, Christiane / Lecornec, Marie-Hélène / Poisson, Elodie / Fusco, Anna Maria /
    Loli, Paola / Lombès, Marc / Zennaro, Maria-Christina

    The Journal of clinical endocrinology and metabolism

    2003  Band 88, Heft 6, Seite(n) 2508–2517

    Abstract: We have analyzed the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to ... ...

    Abstract We have analyzed the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive. Six heterozygous mutations were detected. Two frameshift mutations in exon 2 (insT1354, del8bp537) and one nonsense mutation in exon 4 (C2157A, Cys645stop) generate truncated proteins due to premature stop codons. Three missense mutations (G633R, Q776R, L979P) differently affect hMR function. The DNA binding domain mutant R633 exhibits reduced maximal transactivation, although its binding characteristics and ED(50) of transactivation are comparable with wild-type hMR. Ligand binding domain mutants R776 and P979 present reduced or absent aldosterone binding, respectively, which is associated with reduced or absent ligand-dependent transactivation capacity. Finally, P979 possesses a transdominant negative effect on wild-type hMR activity, whereas mutations G633R and Q776R probably result in haploinsufficiency in PHA1 patients. We conclude that hMR mutations are a common feature of autosomal dominant PHA1, being found in 70% of our familial cases. Their absence in some families underscores the importance of an extensive investigation of the hMR gene and the role of precise diagnostic procedures to allow for identification of other genes potentially involved in the disease.
    Mesh-Begriff(e) Cohort Studies ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Mutation, Missense ; Pedigree ; Pseudohypoaldosteronism/classification ; Pseudohypoaldosteronism/genetics ; Receptors, Mineralocorticoid/genetics ; Receptors, Mineralocorticoid/metabolism ; Transcription, Genetic
    Chemische Substanzen Receptors, Mineralocorticoid
    Sprache Englisch
    Erscheinungsdatum 2003-06
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/jc.2002-021932
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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