Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.

Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect is due to mutations in the gene, located in the long arm of the X chromosome (Xq21-22). Functional deficiency of the α-GalA enzyme leads to reduced degradation and accumulation of its substrates, predominantly globotriaosylceramide (Gb3), which accumulate in the lysosomes of numerous cell types, giving rise to the symptomatology.

Microstructural examination of carbonated 3D-printed concrete.

The recent interest in 3D printing with concrete has generated great interest on how inhomogeneities arise and affect performance parameters, in particular strength and durability. With respect to durability, of particular interest is how 3D-printed layer interfaces can impact transport of species of interest, such as moisture, chlorides or carbon dioxide in carbonation processes. This is of particular interest considering that the primary use case of 3D-printed concrete has been as a lost formwork for a cast structural concrete, and thus it is of interest to determine the carbonation resistance.

Kinetics of electrochemical dissolution of metals in porous media.

Metals embedded in porous media interact electrochemically with the liquid phase contained in the pores. A widespread form of this, adversely affecting the integrity of engineered structures, is corrosion of steel in porous media or in natural environments. While it is well documented that the rate of this electrochemical dissolution process can vary over several orders of magnitude, understanding the underlying mechanisms remains a critical challenge hampering the development of reliable predictive models.

Electrochemistry and capillary condensation theory reveal the mechanism of corrosion in dense porous media.

Corrosion in carbonated concrete is an example of corrosion in dense porous media of tremendous socio-economic and scientific relevance. The widespread research endeavors to develop novel, environmentally friendly cements raise questions regarding their ability to protect the embedded steel from corrosion. Here, we propose a fundamentally new approach to explain the scientific mechanism of corrosion kinetics in dense porous media.

Feeding ecology of the American freshwater goby Ctenogobius shufeldti (Gobiidae, Perciformes) in a sub-tropical estuary.

The feeding ecology of the American freshwater goby Ctenogobius shufeldti in a low salinity salt-marsh habitat in the Paranaguá Bay estuarine complex (Brazil) was assessed through the gut analysis of 632 individuals. The effects of a set of abiotic factors (type of sediment, salinity, temperature and estuarine reach), season and body size on dietary composition were analysed. Seasonal and size-related changes in feeding strategy, feeding intensity and trophic level were assessed.

A simple and versatile re-catalyzed Meyer-Schuster rearrangement of propargylic alcohols to alpha,beta-unsaturated carbonyl compounds.

Rhenium does the job! A readily available rhenium complex efficiently catalyzed the direct Meyer-Schuster-like rearrangement of different alkyl- and aryl-substituted propargylic secondary and tertiary alcohols to the corresponding alpha,beta-unsaturated compounds, which were produced with virtually complete E stereoselectivity. The reaction proceeded under neutral conditions and no racemization of potentially enolizable stereocenters was observed.

Long-term results of laparoscopic treatment for advanced rectal cancer.

Background: The management of advanced rectal cancer has changed into a multidisciplinary treatment model. Only limited randomized data are available for patients with rectal cancer treated laparoscopically.

Aim: We report a multimodal treatment of advanced rectal cancer: preoperative oncological treatment, use of endoscopic stent (for malignant obstruction), minimal invasive treatment.

Coagulation factor levels in non-metastatic colorectal cancer patients.

Unlabelled: There is evidence that high plasma levels of factor (F) VIII, FIX, FXI and fibrinogen are independent risk factors for venous thromboembolism.

Aim: To determine the plasma concentrations of several coagulation factors and C4b-binding protein (C4BP) in a group of patients with non-metastatic colorectal cancer in order to investigate some aspects of cancer-acquired thrombophilia.

Methods: Plasma fibrinogen, FII, FV, FVII, FVIII, FIX, FX, FXI and FXII activity levels and C4BP concentrations were determined in 73 patients with non-metastatic colorectal cancer (48 colon and 25 rectum) and in 67 matched control subjects.

Antiphospholipid antibodies and acute-phase response in non-metastatic colorectal cancer patients.

Aim: To investigate the plasma levels and prevalence of the most common antiphospholipid antibodies, as well as their relationships with several plasma markers of inflammation, in order to characterize some aspects of cancer thrombophilia.

Materials And Methods: Eighty-three cancer patients with non-metastatic colorectal solid tumors and 94 control subjects were tested for the presence of IgG/IgM/IgA anti-cardiolipin and anti-Beta2-glycoprotein I antibodies and of several acute-phase reactants, i.e.

Coagulation factor levels in non-metastatic colorectal cancer patients.

Unlabelled: There is evidence that high plasma levels of factor (F) VIII, FIX, FXI and fibrinogen are independent risk factors for venous thromboembolism.

Aim: To determine the plasma concentrations of several coagulation factors and C4b-binding protein (C4BP) in a group of patients with non-metastatic colorectal cancer in order to investigate some aspects of cancer-acquired thrombophilia.

Methods: Plasma fibrinogen, FII, FV, FVII, FVIII, FIX, FX, FXI and FXII activity levels and C4BP concentrations were determined in 73 patients with non-metastatic colorectal cancer (48 colon and 25 rectum) and in 67 matched control subjects.

Antiphospholipid antibodies and acute-phase response in non-metastatic colorectal cancer patients.

Aim: To investigate the plasma levels and prevalence of the most common antiphospholipid antibodies, as well as their relationships with several plasma markers of inflammation, in order to characterize some aspects of cancer thrombophilia.

Materials And Methods: Eighty-three cancer patients with non-metastatic colorectal solid tumors and 94 control subjects were tested for the presence of IgG/IgM/IgA anti-cardiolipin and anti-Beta2-glycoprotein I antibodies and of several acutephase reactants, i.e.

[Laparoscopic repair of incisional and umbilical hernias. Our experience].

Background: Incisional hernia is a frequent complication of abdominal surgery (2-20% of all cases). Recurrence rate after simple repair without mesh is very high. The use of prosthetic materials has reduced the recurrences.

Comparing fibrin sealant with staples for mesh fixation in laparoscopic transabdominal hernia repair: a case control-study.

Background: Laparoscopic hernia repair is not as popular as cholecystectomy. We have performed more than 3,000 laparoscopic herniorrhaphies using the trans-abdominal (TAPP) technique. To prevent recurrences we fix the polypropylene mesh with staples.

Total plasma homocysteine and methylenetetrahydrofolate reductase C677T polymorphism in patients with colorectal carcinoma.

Aim: To investigate the behaviour of total plasma homocysteine (tHcy) and its most common genetic determinant defect, the methylenetetrahydrofolate reductase C677T (C677TMTHFR) polymorphism in patients with early stage colorectal carcinoma.

Methods: tHcy was quantified by Abbott IMx immunoassay; screening for C677TMTHFR substitution was performed by PCR and restriction analysis.

Results: The frequency of the C/T and T/T genotypes of the C677TMTHFR gene polymorphism did not differ between the groups.

The biliopancreatic diversion. A comparison of laparoscopic and laparotomic techniques.

Aim: Morbid obesity has increased its frequency in the last 20 years in association with the increase of a country's richness. Bariatric surgery has developed a role which is becoming more and more important. The aim of this study, after 10 years of experience with the biliopancreatic diversion, is to compare the laparoscopic versus open technique

Methods: From March 1993 to December 2004, 150 patients were operated by biliopancreatic diversion.

Prevalence of factor V Leiden and prothrombin G20210A in patients with gastric cancer.

Aim: To analyze the prevalence of the two commonest thrombophilic mutations, factor V Leiden and prothrombin G20210A, in patients with gastric cancer.

Methods: One hundred and twenty-one patients with primary gastric carcinoma and 130 healthy subjects, comparable for age and sex, were investigated. Factor V Leiden was detected by using polymerase chain reaction and restriction enzyme digestion, and prothrombin G20210A gene mutation by allele-specific PCR.

[Laparoscopic colon-sigmoid resection with mesenteric artery preservation for diverticular disease].

Aim: About 2/3 of the Western population over the age of 80 years are affected by colic diverticulosis; 25% will develop diverticular disease with or without complications: fistula, obstruction, pericolic abscess, free perforation or hemorrhage. Laparoscopic approach for benign diseases of the colon such as diverticulosis, Chrohn's disease, etc. is unanimously considered as a very effective procedure.

[Non palpable lesions of the breast: the Mammotome-biopsy in the preoperative management of breast cancer].

Background: Breast tumour takes first place for frequency in women in Western Countries and is in constant increase. The diagnosis of the so-called non palpable lesions is increased remarkably above all due to the diffusion of mammographic screening and to a greater awareness of the problem. Furthermore it is helped by an important development of mininvasive diagnostic methods: the traditonal cytology with fine needle is supported by various trans-skin bioptic procedures (micro-histological examination).

Protein S in cancer patients with non-metastatic solid tumours.

Aims: To study protein S, as an acute phase protein, for its relationships with C4b-BP (C4BP), fibrinogen and Factor VIII:C in a group of patients with solid tumours, without proven metastases.

Methods: Eighty-one consecutive patients with gastrointestinal or pelvic adenocarcinoma (TNM staging: T1-3, N0-2, M0) and 58 healthy subjects were evaluated for plasma free and total protein S antigen, protein S activity, C4BP, fibrinogen and Factor VIII:C.

Results: When compared to the control group, the total protein S, the C4BP, the fibrinogen and the Factor VIII:C mean levels were significantly higher in the cancer group, but there was no significant difference for the free and the functional protein S mean concentrations.

[Neoplastic residues in the trocar tract in oncologic laparoscopic surgery].

Aim: The laparoscopic approach to malignant diseases runs up against both old and new problems: respect for the principles of radicality, operating times, the postoperative course and surgical complications, long-term oncological results in terms of survival and recurrence of the disease. One of the problems which has received most attention regards the onset of a metastasis on a trocar scar or a mini-laparotomy recurrence. Trocar site tumor recurrences have been described in the literature following laparoscopic surgery in almost all abdominal malignant pathologies (colorectal, gynaecological, pancreatic, etc.

Experimental internal anal sphincter replacement with demucosated colonic plication.

Background: Selective re-creation of a new internal anal sphincter could be indicated when the natural one is irreversibly damaged or excised.

Methods: In this preliminary experimental work, surgical techniques of internal anal sphincter replacement in pigs were investigated. After preoperative anorectal manometry, surgical procedure was done in two phases: abdominal, mobilization of the colon-rectum to the pelvic floor; and perianal, dissection of the anal canal from the external anal sphincter through the intersphincteric space.

[Endoscopic treatment of intestinal anastomotic leakage in low anterior resection of the rectum by using fibrin adhesive. Our experience].

Background: Personal experience about treatment of anastomotic leakage in low anterior resection of the rectum by using human fibrin adhesive "Tissucol" is reported.

Methods: Eight cases of anastomotic leakage treated with using human fibrin adhesive "Tissucol", are analyzed in a retrospective study. Patients had three/six months-one year follow up.

The surgical treatment of pancreatic pseudocysts. Personal experience.

Background: This study is aimed at contributing to defining a correct therapeutic management of pancreatic pseudocysts (PPCs): indications for treatment, operative timing and technical approach.

Methods: A retrospective analysis of 28 patients affected by PPC, 22 males (78.5%) and 6 females (21.