Vermehrung der extracellulären Flüssigkeit im Muskel nach Methylthiouracil infolge einer isolierten Erweiterung der transversalen Tubuli der Muskelzellen

Zusammenfassung Zehnwöchige Behandlung von Ratten mit Methylthiouracil bewirkt nur im Skeletmuskel eine Vermehrung der extracellulären auf Kosten der intracellulären Flüssigkeit. Dabei kommt es in den Sarkoplasmareichen (roten) Muskelzellen zu einer perlschnurartigen Erweiterung des transversalen Tubulus-systems (T-System), das mit dem extracellulären Raum in offener Verbindung steht.     

Hyperbaric oxygen therapy in a patient with autosomal dominant polycystic kidney disease with a perinephritic abscess

A 68-year-old female in hemodialysis due to autosomal dominant polycystic kidney disease underwent resection of cysts in her right kidney via a laparoscopic approach due to abdominal pain. Three weeks after surgery, she was admitted with sepsis. A CT scan showed a large abscess around the right kidney. Percutaneous drainage of abscess was performed. The pus smear showed Gram-positive cocci and the culture contained methicillin-resistant Staphylococcus aureus. Ciprofloxacin, clindamycin and vancomycin were given. In the 3 weeks following admission, she remained febrile and septic and showed a progressive deterioration in her general condition, along with malnutrition and persistent drainage of purulent material from her right flank. The antibiotic therapy was changed to vancomycin, metronidazole and meropenem, but no improvement was observed. Because of the high risk associated with carrying out an open nephrectomy, we decided to use hyperbaric oxygen therapy (HBOT) as a potentially useful measure to control her infection. The patient underwent 26 daily sessions of 100% hyperbaric oxygen (2.5 atm). The use of HBOT induced a notable break in the clinical course of this patient’s retroperitoneal infection. She was discharged after day 58 without any signs of inflammatory activity, and she has not presented reactivation of infection since then. We think that this case suggests that this therapy could be a new therapeutic tool in the management of patients with similar clinical features when all other therapeutic measures have failed. We did not find any other reports of the use of HBOT in infections of renal cysts.     

The presence of leukaemia‐associated phenotypes is an independent predictor of induction failure in acute myeloid leukaemia

Immunophenotyping of acute myeloid leukaemia (AML) has controversial implications with regards to prognosis. The aims of the present study were to determine the frequency of leukaemia‐associated phenotypes (LAP) in AML and to correlate their presence with response to induction chemotherapy. We analysed bone marrow samples at diagnosis from 84 AML patients using triple staining flow cytometry with routine standard panel of monoclonal antibodies. The association of LAP and response to induction chemotherapy was evaluated retrospectively. LAP were observed in 54 (64%) patients: lineage infidelity in 19 (35%), asynchronous antigen expression in 28 (52%), and lack of expected lineage specific antigens in 19 (35%). Significant correlation was found between LAP and responses to induction chemotherapy. Response to induction chemotherapy was more frequent in the absence of LAP (P < 0.05, estimated risk ratio of 1.6, 95%CI, 1.0–2.6) in a multivariate analysis. In conclusion, our data show the presence of LAP in AML is an independent predictor for response to induction chemotherapy and risk of relapse and should be considered for counselling patients and planning therapy.     

Proactive infection control measures to prevent nosocomial transmission of carbapenem-resistant Enterobacteriaceae in a non-endemic area

Background Identification of hospitalized carbapenem-resistant Enterobacteriaceae （CRE）-positive patient is important in preventing nosocomial transmission.The objective of this study was to illustrate the implementation of proactive infection control measures in preventing nosocomial transmission of CRE in a healthcare region of over 3200 beds in Hong Kong between October 1,2010 and December 31,2011.Methods The program included active surveillance culture in patients with history of medical tourism with hospitalization and surgical operation outside Hong Kong within 12 months before admission,and ＂added test＂ as an opportunistic CRE screening in all fecal specimens submitted to the laboratory.Outbreak investigation and contact tracing were conducted for CRE-positive patients.Serial quantitative culture was performed on CRE-positive patients and the duration of fecal carriage of CRE was analyzed.Results During the study period,a total of 6533 patients were screened for CRE,of which 76 patients were positive （10 from active surveillance culture,65 from ＂added test＂,and 1 secondary case from contact tracing of 223 patients with no nosocomial outbreak）,resulting in an overall rate of CRE fecal carriage of 1.2％.The median time of fecal carriage of CRE was 43 days （range,13-119 days）.Beta-lactam-beta-lactamase-inhibitors,cephalosporins,and fluoroquinolones were associated significantly with high fecal bacterial load when used 90 days before CRE detection,while use of cephalosporins,carbapenems,and fiuoroquinolones after CRE detection are significantly associated with longer duration of carriage.The duration of fecal carriage of CRE also correlates significantly with the initial fecal bacterial load （Pearson correlation：0.53; P=0.02）.Conclusion Proactive infection control measures by enhanced surveillance program identify CRE-positive patients and data obtained are useful for the planning of and resource allocation for CRE control.     

MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases

We present a comprehensive analysis of 1,506 German families for large genomic rearrangements (LGRs) in the BRCA1 gene and of 450 families in the BRCA2 gene by the multiplex ligation-dependent probe amplification (MLPA) technique. A total of 32 pathogenic rearrangements in the BRCA1 gene were found, accounting for 1.6% of all mutations, but for 9.6% of all BRCA1 mutations identified in a total of 1,996 families, including 490 with small pathogenic BRCA1/2 mutations. Considering only high risk groups for hereditary breast/ovarian cancer, the prevalence of rearrangements is 2.1%. Interestingly, deletions involving exon 17 of the BRCA1 gene seem to be most frequent in Germany. Apart from recurrent aberrations like del ex17, dupl ex13, and del ex22, accounting for more than 50% of all BRCA1 LGRs, we could fully characterize 11 novel deletions. Moreover, one novel deletion involving exons 1-7 and one deletion affecting the entire BRCA1 gene were identified. All rearrangements were detected in families with: 1) at least two breast cancer cases prior to the age of 51 years; 2) breast and ovarian cancer cases; 3) ovarian cancer only families with at least two ovarian cancer cases; or 4) a single breast cancer case prior to the age of 36 years, while no mutations were detected in breast cancer only families with no or only one breast cancer case prior to the age of 51 years. Analysis for gross rearrangements in 412 high-risk individuals, revealed no event in the BRCA2 gene and only two known CHEK2 mutations. However, in an additional 38 high-risk families with cooccurrence of female breast/ovarian and male breast cancer, one rearrangement in the BRCA2 gene was found. In summary, we advise restricting BRCA1 MLPA screening to those subgroups that revealed LGRs and recommend BRCA2 MLPA screening only for families presenting with cooccurrence of female and male breast cancer.