Brown's syndrome associated with Smith-Magenis syndrome: Case report

Brown's syndrome is generally an isolated clinical condition. The authors observed a girl with a right Brown's syndrome and a rare condition due to an interstitial deletion of chromosome 17, known as Smith-Magenis syndrome. A wide spectrum of congenital disorders have been reported in Smith-Magenis syndrome, but never Brown's syndrome.     

Adjuvant chemotherapy in gastric carcinoma

The adjuvant chemotherapy (A.C.) is considered as a complementary treatment in patients who underwent radical surgery for gastric cancer, with complete removal of the tumor and absence of macroscopically detectable metastasis. This treatment is generally started within 4-6 weeks after the operation. The indication to A.C. is related practically only to the stage of the disease, due to the fact that no other prognostic factors of an increased risk of relapse have been detected. Two metanalysis have been recently published by Earle (1998) and Floriani (1998); both the two have recognized a possible effective role of the CA for Gastric Cancer. Naturally these "impressions" of efficacy documented by these two metanalysis should be confirmed through new trials with larger recruitment. In these new trials the new generation schedules (weekly PELF, ECF plus 5-FU), which showed an increased response for advanced disease, should be administered.     

Personalized therapeutic strategies in HER2-driven gastric cancer

Gastric Cancer - Trastuzumab is the only approved targeted therapy in patients with HER2-amplified metastatic gastric cancer (GC). Regrettably, in clinical practice, only a fraction of them...     

The Italian Research Group for Gastric Cancer (GIRCG) guidelines for gastric cancer staging and treatment: 2015

Methodology for the diagnosis and staging of early gastric cancer (EGC) has improved in Japan since the development of the gastro-camera and determination of a definition of EGC. Imaging technology has been steadily evolving in the endoscopy field. Improvements in the resolution of standard endoscopy images used in screening and surveillance provide greater opportunities to find gastric cancer earlier. Image enhancement endoscopy (IEE), such as narrow band imaging (NBI), highlights mucosal structures and vascularity. In particular, when NBI is used with magnifying endoscopy, it reveals fine details of subtle superficial abnormalities of EGC that are difficult to recognize using standard white light endoscopy. IEE-assisted magnifying endoscopy has improved the accuracy of the differentiation of superficial gastric cancer as well as delineation of the diseased mucosa. The advanced imaging technology enables precise assessment of the risk of lymph node metastasis of EGC and is widely used to determine indications for endoscopic treatment. It is not an overstatement to say that this has become the basis for the current development and dissemination of endoscopic treatments. Moreover, the resolution of endoscopic imaging has been upgraded to the microscopy level by the development of endomicroscopy, including endocytoscopy and confocal laser endomicroscopy. Endomicroscopy allows real-time histological analysis of living tissue during routine endoscopy and may reduce the number of biopsies needed to reach the correct diagnosis, minimizing the risk of sampling errors.     

Morbidity and mortality after D1 and D2 gastrectomy for cancer: interim analysis of the Italian Gastric Cancer Study Group (IGCSG) randomised surgical trial.

BACKGROUND: The disadvantages of D2 gastrectomy have been mostly related to splenopancreatectomy. Unlike two large European trials, we have recently showed the safety of D2 dissection with pancreas preservation in a one-arm phase I-II trial. This new randomised trial was set up to compare post-operative morbidity and mortality and survival after D1 and D2 gastrectomy among the same experienced centres that participated into the previous trial. METHODS: In a prospective multicenter randomised trial, D1 gastrectomy was compared to D2 gastrectomy. Central randomisation was performed following a staging laparotomy in 162 patients with potentially curable gastric cancer. FINDINGS: Of 162 patients randomised, 76 were allocated to D1 and 86 to D2 gastrectomy. The two groups were comparable for age, sex, site, TNM stage of tumours, and type of resection performed. The overall post-operative morbidity rate was 13.6%. Complications developed in 10.5% of patients after D1 and in 16.3% of patients after D2 gastrectomy. This difference was not statistically significant (p<0.29). Reoperation rate was 3.4% after D2 and 2.6% after D1 resection. Post-operative mortality rate was 0.6% (one death); it was 1.3% after D1 and 0% after D2 gastrectomy. INTERPRETATION: Our preliminary data confirm that in very experienced centres morbidity and mortality after extended gastrectomy can be as low as those showed by Japanese authors. They also suggest that D2 gastrectomies with pancreas preservation are not followed by significantly higher morbidity and mortality than D1 resections.     

HLA genes and surnames show a similar genetic structure in Lombardy: Does this reflect part of the history of the region?

Lombardy, in northern Italy, is the most populated and industrialized Italian region. We attempt to study its genetic structure with two independent sets of data: HLA allele frequencies and surnames. According to our results, it is plausible to deduce that ancient history, more than genetic isolation and drift, may have contributed to the present genetic structure of Lombardy. The hypothesis seems to be confirmed by the results of the cluster analysis of the 11 provinces of the region, which was performed using two different types of markers. Both genes and surnames show approximately the same structure. Not only Celts but also ancient Ligurians (and Etruscans) probably shaped the region into the present three clusters in which the 11 provinces appear to be genetically structured. In particular, an ancient historic, archaeological, and linguistic boundary, along the Adda River, seems to be preserved in present-day Lombardy's population structure.     

High prevalence of a screening-detected,HFE-unrelated,mild idiopathic iron overload in Northern Italy

BACKGROUND AND OBJECTIVES: In Italy, typical HFE mutations account for only 64% of the cases with overt hereditary hemochromatosis (HH), and a common HFE-unrelated disease was hypothesized. DESIGN AND METHODS: One thousand and fifty potential blood donors were screened by iron tests, C282Y and H63D HFE mutation analysis in a region in North Italy. Subjects with repeated fasting transferrin saturation of 45% or more and no secondary iron overload were defined as probands with idiopathic iron overload. To assess the inheritance of iron overload, relatives of probands were screened. RESULTS: The overall frequency of probands with idiopathic iron overload was 3.43% (95% confidence interval, 2.32 to 4.52). Of these, 8.4% had genotypes associated with HH (compound heterozygous for H63D/C282Y or homozygous for H63D HFE mutations), and 91.6% had atypical genotypes: 47.2% were heterozygous for C282Y or H63D HFE mutations, and 44.4% had wild type/wild type genotype. A family history of iron overload was proven in 33.3% of probands with atypical genotypes (1.04% of the overall population). Pedigree analysis excluded linkage of heterozygous HFE mutations with iron overload (cumulative lod score 2.41) and documented a recessive non-HLA-linked locus accounting for iron overload in wild type/wild type genotypes. None of the probands had clinical signs of iron accumulation; in males, serum ferritin positively correlated with age (r=0.63, p<0.01), and the regression model predicted a serum ferritin of 700 ng/mL at the age of 58. INTERPRETATION AND CONCLUSIONS: In Northern Italy an HFE-unrelated, mild idiopathic iron overload is highly prevalent. A recessive locus accounts for iron overload in at least 1.04% of the overall population.     

Survival of Early Gastric Cancer in a Specialized European Center. Which Lymphadenectomy Is Necessary?

Purpose A clinicopathological study of early gastric cancer has been carried out in a single experienced surgical unit to identify prognostic indicators for survival and factors related to lymph nodes metastasis and document a survival benefit of D2 gastrectomy. Methods A retrospective review of our database from January 1990 to December 2004 revealed 189 patients with early gastric cancer undergoing surgical resection with either D1 or D2 lymph node dissection. Clinicopathological factors analyzed included Lauren’s histological type, histological differentiation, size, mucosal versus submucosal invasion, venous invasion, number of lymph node involved, and extent of nodal dissection performed. Factors related to increased risk of nodal metastases and predicting 5- and 10-year disease-specific survival were evaluated by univariate and multivariate analysis. Results Median follow-up time was 77 months. Lymph node involvement was documented in 21.1% of patients. A D2 gastrectomy was performed in 56% of patients. The cumulative 10-year survival rate was 92.5%; it was strictly related to nodal metastases (p = .0014). Poor differentiation, size larger than 2 cm, and submucosal depth of invasion were related to increased risk of nodal metastases but not to decreased survival. Overall, 10-year survival after D2 gastrectomy was higher than after D1 gastrectomy (95 versus 87.5%), but this difference was not statistically significant (p = .80). No survival benefit was documented for D2 gastrectomy in subsets of patients with increased risk of nodal metastasis. Conclusion In this retrospective analysis a survival benefit of D2 gastrectomy was not documented either in the overall population or in subset analyses of patients with increased risk of nodal metastasis.