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  • Author: Gianina Micu x
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The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members


Limb-girdle muscular dystrophies (LGMD) are an extremely heterogeneous and rapidly expanding group of diseases characterized by progressive weakness of pelvic, scapular and trunk muscles with sparing of facial and distal musculature in most of the subtypes, onset in childhood or in adults of both sexes, very variable clinical severity ranging from mild to severe phenotypes, some associated with cardio-pulmonary and extraskeletal impairment and high serum creatine-kinase (CK) levels. In the past years, huge advances have been recorded in the various identification methods and new distinct entities were discovered. However, it is not yet clear why some muscle groups are affected and others spared in a specific subtype of LGMD, why similar clinical pictures are associated with different genes and mutations, while the same gene or mutation may present with very various clinical phenotypes [1]. In this review we summarize the main aspects of positive and differential diagnosis in LGMD.

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Density of tryptase-positive mast cells correlated with the presence of H. pylori in gastric neoplasia


Background. Gastric cancer continues to be a platoon leader of mortality causes. A significant number of recent studies show direct or indirect involvement of mast cells (MC), with a complex role both pro- and anti-tumor growth.

Aim. To objectify the correlations between expression of MC and presence of Helicobacter pylori (HP) infection depending on neoplastic nature of the gastric damage.

Subjects and Methods. The study was carried out on archival samples of gastric wall from 30 patients with gastric cancer versus 30 age and sex-matched subjects with gastric surgery for nonneoplastic diseases. The inclusion criteria for the case group were histologically proven stage T3/T4 malignancies with regional lymph node metastases. For each case of the study group, distribution and number of MC tryptase positive (DMC–TP) were analyzed in five different areas from the same gastrectomy specimen: intratumor area, deep and side tumor invasion front, normal gastric tissue sample 5-10 cm or more distant from the tumor and furthest resection margin.

Results. Independently of HP infection, the study recorded a significantly lower value of DMC-TP in male patients. In regions with inflammatory lesions and preneoplastic changes and in control cases with non-gastric neoplasia, the DMC-TP level was higher than controls with HP-related inflammatory pathology, thus removing bacterial etiology from the forefront of MC mobilizing causes.

Conclusion. The presence of H. pylori infection was not found to cause significant changes in terms of mobilizing mast cells in the gastric wall with advanced tumors, with minimal stage III TNM.

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Correlations Between the Density of Tryptase Positive Mast Cells (DMCT) and that of New Blood Vessels (CD105+) in Patients with Gastric Cancer


Mast cells proteases, tryptase and chymase are directly involved in the growth and progression of solid tumors due to their important role in tumor angiogenesis. We examined the density of tryptase positive mast cells and the mean density of new blood vessels in gastric malignant tumors of patients with and without Helicobacter pylori infection, using immunohistochemical staining for tryptase (for mast cells) and CD 105 (for new vessels). Tryptase and CD 105 expression was detected in gastrectomy specimens. In this study, mast cell density correlates with angiogenesis and the growth and progression of gastric cancer. It also shows that the participation of Helicobacter pylori infection in the growth and progress of gastric neoplasia is due to an increase of peritumoral angiogenesis, with subsequent local and distant tumor spread and perivascular growth, but without perineural and nodal involvement.

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