The Influence of germline mosaicism to the muscular dystrophies Duchenne and Becker

Schätzung der Segregation beim Keimzellmosaik in Familien mit DMD/BMD anhand ausgewählter Stammbäume zur Verbesserung der Situation in der genetischen BeratungEstimation of the segregation in DMD/BMD-families with germ-line mosaicism with the help of selected pedigrees to improve the situation in genetic counselin

Exceptional Response to Nanoparticle Albumin-Bound Paclitaxel and Gemcitabine in a Patient with a Refractory Adenocarcinoma of the Ampulla of Vater

Ampullary carcinoma is a rare tumor and evidence on the treatment of recurrent metastatic disease is scarce. We report the case of a 60-year-old patient with an R0-resected node-positive adenocarcinoma of the papilla of Vater of an initially diagnosed intestinal subtype who developed pulmonary metastases 2 months after adjuvant gemcitabine chemotherapy and, subsequently, liver metastases. Palliative combination chemotherapy with standard regimens for intestinal-type adenocarcinoma (FOLFOX and FOLFIRI) failed. However, subsequent combination chemotherapy with nanoparticle albumin-bound paclitaxel and gemcitabine, a regimen with proven efficacy in metastatic adenocarcinoma of the pancreas, resulted in a durable, very good partial remission. Treatment was manageable and well tolerated. Primary tumor and metastatic tissue were reassessed by immunohistochemistry and had to be reclassified to a mixed phenotype containing predominant elements of the pancreatobiliary subtype. Our case suggests that combination chemotherapy with nanoparticle albumin-bound paclitaxel and gemcitabine could represent a promising option for the treatment of this rare disease and warrants further investigation within controlled clinical trials. Moreover, thorough characterization of ampullary carcinomas by histomorphology and additional immunohistochemistry should become mandatory in order to start a chemotherapeutic regimen tailored for the definitive subtype

Excretion of Ascaris lumbricoides

Here, we present the unique case of a 51‐year‐old German patient with multiple myeloma excreting Ascaris lumbricoides in his stool five weeks after allogeneic hematopoietic stem cell transplantation. Stool analysis remained negative for the presence of eggs, and there was no eosinophilia in the peripheral blood at any time around stem cell transplantation. The patient was commenced on a three‐day treatment with mebendazole, which was well tolerated. No serious interactions with the concomitant post‐transplant medication or negative effects on the hematopoiesis were observed, and the myeloma still is in complete remission. To our knowledge, this is the first report on excretion of A lumbricoides in the context of allogeneic stem cell transplantation. The case is remarkable with view to the fact that the parasite has supposedly survived all courses of myeloma treatment including autologous and allogeneic conditioning. Parasitosis with A lumbricoides has a worldwide prevalence of about a billion and is extremely rare in northern Europe. Possibly the patient got infected during a trip to Egypt years before multiple myeloma was diagnosed

Excretion of Ascaris lumbricoides following reduced‐intensity allogeneic hematopoietic stem cell transplantation and consecutive treatment with mebendazole

Here, we present the unique case of a 51‐year‐old German patient with multiple myeloma excreting Ascaris lumbricoides in his stool five weeks after allogeneic hematopoietic stem cell transplantation. Stool analysis remained negative for the presence of eggs, and there was no eosinophilia in the peripheral blood at any time around stem cell transplantation. The patient was commenced on a three‐day treatment with mebendazole, which was well tolerated. No serious interactions with the concomitant post‐transplant medication or negative effects on the hematopoiesis were observed, and the myeloma still is in complete remission. To our knowledge, this is the first report on excretion of A lumbricoides in the context of allogeneic stem cell transplantation. The case is remarkable with view to the fact that the parasite has supposedly survived all courses of myeloma treatment including autologous and allogeneic conditioning. Parasitosis with A lumbricoides has a worldwide prevalence of about a billion and is extremely rare in northern Europe. Possibly the patient got infected during a trip to Egypt years before multiple myeloma was diagnosed

Donor-cell leukemia with novel genetic features 2 years after sex-mismatched T cell-depleted haploidentical stem cell transplantation

No abstract available

Additional file 4: Figure S3. of Evaluation of epidermal growth factor receptor signaling effects in gastric cancer cell lines by detailed motility-focused phenotypic characterization linked with molecular analysis

Network connecting EGFR signaling to the regulation of cellular motility. A total of 179 nodes from KEGG, Reactome, BioModels and the literature are implicated in EGFR signaling or cellular motility regulation events. Each node represents one to many functionally equivalent proteins (e.g., node “PIK3R5” represents the 12 proteins PIK3R5, PIK3C2A, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3). The potential flow of signals is indicated by protein modification, protein-protein interaction and transcriptional regulation events extracted from KEGG, Reactome, DIP, IntAct, MiMI and ITFP. A subset of proteins and their associations were manually enlarged to emphasize either involvement in standard EGFR signaling and motility regulation pathways or because they are required to connect standard components. Thus far, the data available in the standard pathway resources did not provide a direct mechanistic explanation as to how EGFR signaling might influence cellular motility. While such a mechanism can be proposed based on standard components and added information about PPI, there are potentially many alternative flows through the network that can provide alternative or preferred routes. Green arrows represent phosphorylation and direction of activation. Red barred lines represent direction of inhibition. Black, single-arrowhead arrows represent associations with unspecified functional directions. Double-headed arrows represent undirected protein-protein interactions. (PDF 674 kb

Additional file 1: Tables S1–S7. of Evaluation of epidermal growth factor receptor signaling effects in gastric cancer cell lines by detailed motility-focused phenotypic characterization linked with molecular analysis

Additional statistical data. Comprehensive statistical data, including mean and p-values from statistical analysis. (PDF 252 kb