Percutaneous nephrolithotomy of a staghorn stone in thoracic ectopic kidney

Congenital thoracic ectopic kidney is a very rare developmental anomaly and the rarest form of all ectopic kidneys. It is usually asymptomatic and discovered incidentally on routine chest radiography. Herein we reported the first case of staghorn stone in a thoracic kidney managed successfully by percutaneous nephrolithotomy.     

Pegylated interferon alfa 2b and oral ribavirin in patients with HCV-related cirrhosis.

BACKGROUND: The treatment of hepatitis C virus (HCV)-related cirrhosis is difficult due to high frequency of adverse effects. We retrospectively reviewed the case records of patients with HCV cirrhosis to evaluate the efficacy and tolerability of pegylated (peg) interferon and ribavirin treatment in these patients. METHODS: Medical records of 28 patients with HCV-related compensated cirrhosis were reviewed. The treatment protocol was a combination therapy of peg interferon alfa-2b (1 microg/Kg/week) plus oral ribavirin (10-12 mg/Kg/day). Primary endpoint was sustained virological response, with additional endpoints of drug tolerance, clinical or biochemical worsening and death. RESULTS: End-of-treatment virlogic response was seen in 24 of 28 patients (85%) and sustained virologic response in 15 of 28 (53%) patients. Biochemical end-of-treatment response and sustained response were seen in 20 and 16 patients (71% and 57%), respectively. Treatment had to be stopped in 3 patients due to decompensation of liver status in two and drug intolerance in one, while dose modification was required in two patients. CONCLUSIONS: Combination therapy with peg interferon plus ribavirin seems effective in patients with liver cirrhosis. High relapse rate, poor biochemical recovery and possibility of decompensation are issues that need to be kept in mind.     

Laparoscopic cryosurgery for hepatic tumors

Background: Hepatic cryosurgery has been shown to be a safe technique that may be well suited to a laparoscopic approach. Methods: The technical feasibility and safety of laparoscopic cryosurgery was explored first in a pig model. Thereafter we performed the first successful case of laparoscopic hepatic cryosurgery at our institution. Results: In the animal model, we found that it is possible to safely identify, target, and cryoablate specific lesions in the liver. Temperature in the peritoneal cavity remained above 35°C, and pathologic examination of the abdominal wall around the cryoprobe site revealed no damage. We also successfully treated a 62-year-old man with a metastatic colorectal carcinoma deep in the right lobe of the liver with laparoscopic cryosurgery using a transpleural approach. Conclusion: We conclude that laparoscopic cryosurgery is feasible for lesions anywhere in the liver. For lesions high on the dome of the liver, a transpleural approach may provide better access.     

Role of the lungs in the regulation of the generation of active oxygen forms by leukocytes under normal and pathological conditions

Studies conducted in the clinic (in patients with cardiac diseases) and experiments (performed on intact dogs) by means of the hemiluminescent method and the nitroblue tetrazolium test showed that the lungs, in distinction to other organs (heart and others), have a stimulating effect on the generation of active oxygen forms (AOF) by the leukocytes. In this way the lungs may probably play a double role in the organism: potentiate its defence (by intensifying the microbicidal activity of the phagocytes) and facilitate damage (by secretion of AOF by the phagocytes beyond them--into the tissues); the resultant effect depends on the balance of these two types of action. In carcinoma of the lung the stimulating effect of its involved lobe (part) on the leukocytes diminishes.     

MICA4/HLA-DRB1*04/TNF1 haplotype is associated with mixed connective tissue disease in Swedish patients

In order to investigate major histocompatibility complex (MHC) class I chain-related gene A (MICA), tumor necrosis factor (TNFa), -308TNFA, and human leukocyte antigen (HLA-DR/DQ) polymorphisms in mixed connective tissue disease (MCTD), we analyzed 24 patients and 229 healthy controls from Sweden. MICA and TNFa typing was performed by polymerase chain reaction (PCR) and genotyping. HLA-DR and -DQ were genotyped using PCR-sequence specific primers (PCR-SSP) and PCR-sequence-specific oligonucleotide probe (PCR-SSOP), respectively. For analysis of -308TNFA polymorphisms we performed PCR with restriction endonuclease enzymes. We found that the MICA5.1-5.1 genotype was positively associated with MCTD. Shared epitope genes (DRB1*01 and DRB1*04) were also significantly positively associated with MCTD. Polymorphism of -308TNFA was not differently distributed in MCTD patients compared with controls. Furthermore, we demonstrated that frequencies of three estimated haplotypes were increased in MCTD patients compared with controls. Interestingly, the haplotype with MICA allele 4 together with DRB1*04 and TNF1 alleles gives the most specific pattern for MCTD patients compared with controls. Our study demonstrates a clear contribution of HLA loci in susceptibility to MCTD in the Swedish population. Susceptibility to MCTD may be linked to the MICA4/HLA-DRB1*04/TNF1 haplotype and MICA 5.1-5.1 genotype. Mixed connective tissue disease was also associated with shared epitope genes, which in RA has been associated with a more severe disease. Whether these genotypes affect the clinical phenotype of MCTD needs to be determined.     

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

The Bethlem myopathy is a rare autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures. Evidence for linkage and genetic heterogeneity has been established, with the majority of families linked to 21q22.3 and one large family linked to 2q37, implicating the three type VI collagen subunit genes, COL6A1 (chromosome 21), COL6A2 (chromosome 21) and COL6A3 (chromosome 2) as candidate genes. Mutations of the invariant glycine residues in the triple-helical domain-coding region of COL6A1 and COL6A2 have been reported previously in the chromosome 21-linked families. We report here the identification of a G-->A mutation in the N-terminal globular domain-coding region of COL6A3 in a large American pedigree (19 affected, 12 unaffected), leading to the substitution of glycine by glutamic acid in the N2 motif, which is homologous to the type A domains of the von Willebrand factor. This mutation segregated to all affected family members, to no unaffected family members, and was not identified in 338 unrelated Caucasian control chromosomes. Thus mutations in either the triple-helical domain or the globular domain of type VI collagen appear to cause Bethlem myopathy.      

Depression among patients with a chief complaint of chronic fatigue

The prevalence of mood disorders among patients with chronic fatigue was examined in a group of 100 adults who had experienced fatigue symptoms for an average of 13 years. Patients received a comprehensive history, physical and laboratory evaluation and completed the National Institute of Mental Health Diagnostic Interview Schedule and the Beck Depression Inventory (BDI). Among 44 patients with depressive illness, the onset of their first depressive episode was strongly associated with and preceded the onset of chronic fatigue. The BDI, fatigue history, demographic factors, and findings from the physical examination and laboratory had only modest success in discriminating those patients with depressive illness from other patients. We conclude that depressive illness is an important precursor of chronic fatigue.     

Results of unrelated cord blood transplant in fanconi anemia patients: risk factor analysis for engraftment and survival.

We retrospectively analyzed results of unrelated cord blood transplantation (UCBT) in 93 Fanconi anemia (FA) patients. Median age at transplantation was 8.6 years (1-45). The units transplanted were HLA-A, -B, or -DRB1 identical in 12 cases, 1 HLA mismatch in 35 cases, and 2 or 3 HLA differences in 45 cases. The median number of nucleated cells (NC) and CD34+ cells infused of recipient weight was 4.9x10(7)/kg and 1.9x10(5)/kg, respectively. Participating centers selected the preparative regimen of their choice, in 57 patients (61%), it included Fludarabine. Graft-versus-host disease (GVHD) prophylaxis consisted mostly of cyclosporine with prednisone. Cumulative incidence (CI) of neutrophil recovery was 60+/-5% at day +60. In multivariate analysis, Fludarabine containing regimen and NC infused>or=4.9x10(7)/kg were associated with higher probability of recovery. CI of grade II-IV acute and of chronic GVHD (aGVHD, cGVHD) was 32%+/-5% and 16%+/-4%, respectively. Overall survival (OS) was 40%+/-5%. In multivariate analysis, factors associated with favorable outcome were use of Fludarabine in the conditioning regimen, number of NC infused>or=4.9x10(7)/kg, and negative cytomegalovirus (CMV) serology in the recipient. In conclusion, factors easily modifiable such as donor selection and a Fludarabine-containing regimen can considerably improve survival in FA patients given a UCBT. These data are the basis for designing prospective protocols.