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P Wiesbauer

Publications and source records attributed to P Wiesbauer.

10 recordsLinked to original sources
PubMed1998

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

The original patient with the Weissenbacher-Zweymüller syndrome was analyzed for mutations in two candidate genes expressed in cartilage (COL2A1 and COL11A2). No mutations were found in the COL2A1 gene but the COL11A2 gene contained a single-base mutation that converted a codon for an obligate glycine to a codon for glutamate at position alpha 2-955 (G955E). The results here and those published previously indicate that the Weissenbacher-Zweymüller syndrome (heterozygous OSMED), nonocular Stickler syndrome, and homozygous OSMED are all caused by mutations in the COL11A2 gene.

Abnormalities, Multiple↗
PubMed1998

[Ewing sarcoma. Diagnostic imaging].

Ewing's sarcoma is a highly malignant neoplasm of the bone whose origin is still uncertain. A strong relationship exists between Ewing's sarcoma and tumors of neural origin (Ewing family of tumors). Ewing's sarcoma must be distinguished from other round-cell tumors like lymphoma and neuroblastoma and also must be differentiated from osteogenic sarcomas. On plain radiographs, Ewing's sarcoma appears as a lytic or mixed lytic-sclerotic, rarely as predominantly sclerotic lesion with margins Lodwick grade III. It is located primarily in the diaphyseal and metadiaphyseal regions of the long bones of the lower extremities. A large soft tissue tumor is usually present. Magnetic resonance imaging is the imaging modality of choice to evaluate the extent of the primary lesion, to monitor the response to neoadjuvant chemotherapy and to follow up non-resected Ewing's sarcomas. Bone scintigraphy is necessary to detect skeletal metastasis, and 201thallium scanning has been shown to be sensitive in the monitoring of treatment response. Today, computed tomography is not longer used to image the tumor site; however, spiral CT of the lungs plays a central role as a staging and follow-up tool.

Bone Neoplasms↗
PubMed1994

[Magnetic resonance imaging of breast implants. Significance compared to mammography and ultrasonography].

Magnetic resonance imaging (MRI), mammography and ultrasonography were performed in 44 consecutive women (mean age 45 [29-70] years) with a total of 73 silicone breast implants. The implant had been inserted after mastectomy for cancer in 15 patients, for cosmetic breast augmentation in 29. MRI proved to be superior to the other two imaging modalities with respect to assessing implant content, capsule and surrounding tissues. In 39 patients MRI clearly demarcated the implant from the residual breast tissue. But in four patients the lateral MRI assessment was impaired by phase artefact and in one other by movement artefacts in a restless patient. Implant thickness was underestimated by mammography and ultrasonography compared with MRI. In nine cases mammography showed retromammary parenchyma, while MRI did so in 20. The posterior wall of the implant was visualized by mammography in only one patient, but in all of them by MRI. Ultrasonography failed in all patients to show the entire implant circumference. In three cases MRI was the only imaging method which revealed a defect in the implant capsule with extrusion of silicone.

Adult↗
PubMed1992

[Veno-occlusive disease of the liver as a treatment complication in children with Wilm's tumor].

We report on three children aged 1 1/2, 2 and 9 1/2 years with Wilms' tumor, who developed a tender hepatomegaly and ascites associated with elevated liver enzymes, anemia and thrombocytopenia during chemotherapy. This clinical picture and liver sonography abnormality are best explained by veno-occlusive disease (VOD) of the liver, while other causes of liver disease could not be identified. Actinomycin D dosage was 0.045 mg/kg as bolus injection in two patients and 0.075 mg/kg split over five days in a third patient. Presumable, this drug was the causative agent. VOD was observed after preoperative and postoperative chemotherapy. No child had received abdominal irradiation. The authors comment on the influence of Actinomycin D as the cause for this unusual liver toxicity.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1984

[Acute heart failure as an initial symptom of juvenile pheochromocytoma. Glucocorticoid therapy as a possible cause of normotension].

A 13 years old girl was admitted with heart failure. Suspected myocarditis could not be proved. Initially slightly elevated blood pressure values normalized but raised again to hypertensive values when glucocorticoid treatment was discontinued; high blood pressure was associated with tachycardia. Determination of catecholamines and metabolites in urine revealed highly elevated levels mainly of norepinephrine. A phaeochromocytoma could be localized sonographically by angiography and selective determinations of catecholamines in samples taken from different parts of the caval vein. An extraadrenal tumor could be removed and the patient's symptoms ceased.

Adolescent↗
PubMedDate not supplied

[Unexpected regeneration of a congenital unilateral hypoplastic- dysplastic kidney after a contralateral nephrectomy for Wilms tumor].

The congenital hypoplastic-dysplastic kidney is characterized by a significant reduction of renal mass, an abnormal parenchymal differentiation and is associated with anomalies of the whole urinary tract. Not much is known about the ability for regeneration in such a kidney. We report on a 2 year 11 months old boy with an anaplastic Wilms tumor of the left kidney, in whom after tumor-nephrectomy an unexpected functional and sonographically documented morphological regeneration of the contralateral hypoplastic-dysplastic kidney occurred. The regeneration of this kidney is especially notable, because it occurred during nephrotoxic chemotherapy and radiotherapy.

Antineoplastic Combined Chemotherapy Protocols↗