ABSTRACT
Epidermolysis bullosa or butterfly wing disease is a rare genetic disorder of connective tissue associated with the formation of blisters. The clinical manifestations are very diverse and affect not only the skin cover, but also mucosal surfaces of the gastrointestinal, urogenital and respiratory systems. A large proportion of patients suffer from severe constipation with the development of megacolon. The case report describes intestinal obstruction in a patient with a dystrophic form of epidermolysis bullosa which required surgical treatment.
Subject(s)
Epidermolysis Bullosa Dystrophica , Ileus , Epidermolysis Bullosa Dystrophica/complications , Humans , Ileus/etiology , Ileus/surgery , SkinABSTRACT
The PML (promyelocytic leukemia) protein is concentrated in the PML nuclear bodies. In human cell lines and tumors maintaining their telomeres by alternative lengthening (ALT), the PML protein is colocalized with TRF2 and several other proteins in the so called ALT-associated PML bodies. The aim of this study was to determine if there is any difference in PML protein expression between tumors with stable microsatellites (MSS) and those with high-frequency microsatellite instability (MSI-H), if PML protein expression might be a prognostic factor and if MSI-H tumors more frequently use alternative lengthening of telomeres measured by the presence of ALT-associated PML bodies. Eighty colorectal cancer samples (32 MSI-H and 48 MSS) and 8 human tumor cell lines (Saos-2, U2OS, DU145, LNCaP, U87, HeLa, MCF7 and T98G) were included into the study. Double-colour immunofluorescence staining was used. Downregulation of PML protein expression was found in 7 of 32 (22%) MSI-H and 11 of 48 (23%) MSS tumors (p=0.520). There was no correlation between PML expression and age, histological typing, localization of the tumor in colon, TNM classification, disease-free and overall survival. The Saos-2 and U2OS (ALT using cell lines) and the MCF7 (active telomerase) cell line were characterized by the presence of ALT-associated PML bodies; no such bodies were detected in the DU145, LNCaP, U87, HeLa and T98G cell lines (active telomerase); accumulation of TRF2 was absent or much weaker in these cell lines compared to Saos-2 or U2OS. Accumulation of the TRF2 protein was detected in 16 of 80 (20%) tumors and PML and TRF2 colocalization in 2 MSI-H tumors (6%). In conclusion, the PML protein was downregulated in approximately 20% of tumors; there was no difference between MSS and MSI-H tumors. PML protein expression does not seem to be a prognostic factor.
Subject(s)
Colorectal Neoplasms/genetics , Colorectal Neoplasms/metabolism , Microsatellite Instability , Neoplasm Proteins/metabolism , Nuclear Proteins/metabolism , Telomere/physiology , Telomeric Repeat Binding Protein 2/metabolism , Transcription Factors/metabolism , Tumor Suppressor Proteins/metabolism , Adaptor Proteins, Signal Transducing/genetics , Adenocarcinoma, Mucinous/genetics , Adenocarcinoma, Mucinous/metabolism , Adenocarcinoma, Mucinous/pathology , Adult , Aged , Aged, 80 and over , Colorectal Neoplasms/pathology , DNA, Neoplasm , Female , Humans , Male , Microsatellite Repeats , Middle Aged , MutL Protein Homolog 1 , MutS Homolog 2 Protein/genetics , Neoplasms/genetics , Neoplasms/metabolism , Neoplasms/pathology , Nuclear Proteins/genetics , Polymerase Chain Reaction , Promyelocytic Leukemia Protein , Telomerase/metabolism , Tumor Cells, CulturedABSTRACT
The most widely used way of reconstruction of the urinary pathways in transplantations of the kidney is at present a ureteroneocysto anastomosis. In some patients this type of reconstruction is difficult, if not impossible (adhesions in the lesser pelvis of the recipient, atrophic urinary bladder, short ureter of the graft, transplantation of child kidneys). In these instances the authors indicated a uretero-uretero end-to-side anastomosis. The authors performed in 13 patients a total of 17 uretero-uretero end-to-side anastomoses. In six transplantation of child kidneys en bloc was involved. During the postoperative period one female patient developed a urinary fistula from the renal pelvis of the graft which healed after conservative treatment. End-to-side uretero-uretero anastomosis is a simple and safe way of reconstruction of the urinary pathways in renal transplantations.
Subject(s)
Kidney Transplantation/methods , Ureter/surgery , Adult , Anastomosis, Surgical/methods , Female , Humans , Kidney Transplantation/adverse effects , MaleSubject(s)
Aorta, Thoracic/injuries , Laparoscopy/adverse effects , Vena Cava, Inferior/injuries , Adult , Female , HumansABSTRACT
The investigation is based on data obtained by means of questionnaires from 62 surgical departments in the Czech Republic. The respondents performed to the data of December 31, 1993 a total of 9,439 laparoscopic cholecystectomies. Conversions accounted for 4.9%, some three quarters were called for by obscure anatomical conditions. The biliary pathways were injured (with the exception of the cystic duct) in 43 patients (0.46%). Peroperative biligraphy was performed in 2.6% of operated patients. Injuries of the digestive tract were recorded in 0.06% patients and injuries of blood vessels in 1.4% of patients. The morbidity in the group was 7.7% and the lethality 0.14% (13 patients). The authors compare the data with other nation-wide studies and demonstrate the advantages of laparoscopic cholecystectomy.
