Pulmonary disease caused by Mycobacterium marseillense, Italy

Mycobacteriummarseillense was recently described as a new species belonging to the Mycobacterium avium complex (MAC).We describe a case of pulmonary disease caused by M. marseillense in an immunocompetent patient. All strains isolated from the patient were preliminarily identified as M. intracellulare; however, a retrospective molecular analysis corrected the identification to M. marseillense

YY1 overexpression is associated with poor prognosis and metastasis-free survival in patients suffering osteosarcoma

<p>Abstract</p> <p>Background</p> <p>The polycomb transcription factor Yin Yang 1 (YY1) overexpression can be causally implicated in experimental tumor growth and metastasization. To date, there is no clinical evidence of YY1 involvement in outcome of patients with osteosarcoma. Prognosis of osteosarcoma is still severe and only few patients survive beyond five years. We performed a prospective immunohistochemistry analysis to correlate YY1 immunostaining with metastatic development and survival in a selected homogeneous group of patients with osteosarcoma.</p> <p>Methods</p> <p>We studied 41 patients suffering from osteosarcoma (stage II-IVa). Multivariate analysis was performed using Cox proportional hazard regression to evaluate the correlation between YY1 expression and both metastasis development and mortality.</p> <p>Results</p> <p>YY1 protein is not usually present in normal bone; in contrast, a high number of patients (61%) showed a high score of YY1 positive cells (51-100%) and 39% had a low score (10-50% positive cells). No statistical difference was found in histology, anatomic sites, or response to chemotherapy between the two degrees of YY1 expression. Cox regression analysis demonstrated that the highest score of YY1 expression was predictive of both low metastasis-free survival (HR = 4.690, 95%CI = 1.079-20.396; p = 0.039) and poor overall survival (HR = 8.353, 95%CI = 1.863-37.451 p = 0.006) regardless of the effects of covariates such as age, gender, histology and chemonecrosis.</p> <p>Conclusion</p> <p>Overexpression of YY1 in primary site of osteosarcoma is associated with the occurrence of metastasis and poor clinical outcome.</p

Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report

Background and objectiveSevere metabolic complications generally manifest at an early age in Berardinelli - Seip congenital lipodystrophy (BSCL) and their management is especially challenging. Nutritional intervention with low lipid diets is considered by experts to be fundamental in treating the disease when associated with medical therapy, however little is known about the beneficial effects of dietary interventions alone. AimTo underline the importance of a well-structured low-fat diet in BSCL patients. Methods and resultsA BSCL male patient strictly followed a hypocaloric hypolipemic diet (60% carbohydrates, 22% fats and 18% proteins) since clinical diagnosis at the age of one year. Interestingly, pharmacological interventions were not required at any point during the follow-up. Aged 16 years the patient was referred to our center. Biochemistry, hormonal evaluation, 75 mg oral glucose tolerance test, cardiac evaluation and abdominal ultrasound were performed, revealing no abnormalities. Genetic analysis and leptin dosage were carried out, confirming the diagnosis of BSCL type 1 (homozygosity for c.493-1G&gt;C pathogenic variant in AGPAT2 gene) and showing undetectable circulating levels of leptin (&lt; 0.2 mcg/L). Diet therapy alone was therefore maintained, scheduling follow-up visits every six months, with acceptable disease control ever since. ConclusionsThis report proves how a low-fat diet is of great help in the management of BSCL and its complications. In addition, a specific hypolipemic diet could be used alone as an effective treatment in selected cases with high compliance and, probably, a milder phenotype

Prophylaxis and treatment of inflammatory anorectal complications in leukemia

Abstract Forty leukemic patients with inflammatory anorectal complications were examined. Twenty-two were affected by acute lymphatic leukemia, 10 by chronic lymphatic leukemia, 6 by acute myelocytic leukemia and 2 by non H lymphoma and chronic myelocytic leukemia, respectively. In all cases surgery was indicated not only to treat the anorectal complication, but mainly to resume the antiblastic chemotherapy discontinued because of the risk of sepsis and to prevent the failure of bone marrow transplantation in patients with chronic myelocytic leukemia. The underlying malignant disease and the altered platelet, white blood cell and neutrophil levels were shown to be the major factors conditioning the surgical treatment. In 2 cases, acute recurrence of the underlying disease and the development of a graft versus host disease have been the cause of death. It is concluded that in patients eligible for bone marrow transplantation or undergoing radio and/or chemotherapy, local and general antiinfective prophylaxis is of paramount importance to decrease the risk of inflammatory anorectal complications

Identification of nontuberculous mycobacteria using commercial DNA probes and gene sequencing

Diagnosis of NonTuberculous Mycobacteria (NMT) infection frequently runs into difficulties regarding a precise definition of the strains.The use of molecular assays is the technique of choice for the identification of species, but commercial methods recognize only a limitednumber of species.Aim of this study was molecular identification of NonTuberculous Mycobacteria (NTM) in clinical specimens using commercial methodsand automated sequencing.We analyzed 6192 clinical specimens for the isolation of Mycobacteria. One hundred and twelve strains of NTM were previously analyzedwith GenoType Mycobacteria CM/AS kit and then with entire 16S rDNA and partial hsp65 sequencing.100/112 NMT strains were identified with GenoType Mycobacteria CM/AS kit as: M. gordonae (n°25), M. xenopi (n°24), M. fortuitum (n°15),M. avium (n°12), M. intracellulare (n°7), M. chelonae (n°6), M. malmoense (n°4), M. peregrinum (n°3), M. mucogenicum (n°1), M. kansasii (n°1), M.abscessus (n°1), M. heckeshornense (n°1).Twelve unidentified strains were subjected to the entire 16S rDNA gene sequencing and nine wereidentified as M. arupense (n°7), M. avium complex (n°1), M. kumamotonense (n°1).Three unidentified strains were subjected to partial hsp65gene sequencing and one was identified as M. arupense.Conclusions. Direct sequencing of entire 16SrDNA gene and of partial hsp65 gene appears to be a useful tool for the study of strains that arenot identifiable by commercial methods.This new approach, applied to clinical diagnostic, allows also recognition of unusual strains or new species