Outpatient management of proctologic disease. Which techniques for local anesthesia? The experience of a single center.

INTRODUCTION: Since 1899 outpatient management of surgical patients had been increasing, becoming the best option when possible. In 1988 was described the first experience of outpatient management of proctologic disease. Advances in local anesthesia techniques have improved the outpatient approach to surgical disease, particularly in patients with proctological diseases. METHODS: From 2010 to 2016, 1160 patients who needed surgery for proctologic disease have been recruited: 239 hemorrhoidectomies using the variant of Milligan Morgan technique described by Phillips, 45 trans-anal hemorrhoidal DE-arterialization (THD), 315 sphincterotomies, 12 anal polypectomies, 230 loop seton positions, 65 cone-like fistulectomies and 254 fistulotomies for perianal fistulas. In 329 cases, we used the posterior perineal block, 603 local perineal blocks, and 228 tumescent anesthesia. RESULTS: On a total of 1160 procedure failure rate was of 4.7% (55 cases). Urinary retention (69% 38 cases); bleeding 18% (10 cases), uncontrolled pain 12% of cases (7 cases). The chi-square test demonstrates (p<0.01) that the failure rate of the three types of anesthesia is very different with high statistical significance. The failure rate in patient underwent Posterior Perineal Block was 27/329 cases (8.2%), 8/228 (3.5%) in patients who underwent Tumescent Anesthesia and 20/603 (3.3%) in who underwent Local Perineal Block. CONCLUSIONS: Outpatient protocols represent the most common approach to minor proctologic disease that needs a good local block, with a good analgesic and sedative assistance, the different local block seems to be the same concerning the pain control, but presents some little, not relevant difference concerning urinary retention rate.

Polymorphisms in genes involved in folate metabolism as risk factors for NTDs.

Moderate hyperhomocysteinemia in pregnant women has been associated with an increased risk of neural tube defects (NTDs). Periconceptional supplementation with multi-vitamins containing folic acid may normalize homocysteine metabolism and decrease the NTD risk. The C677 T variant of the MTHFR gene coding for a thermolabile enzyme has been described as the first genetic risk factor that accounts for a group of NTDs characterized by low maternal folate status and high homocysteine concentrations. Another common mutation of the same MTHFR gene, A1298 C, has also been described as an NTD risk factor. In addition to abnormal folate metabolism, anything that compromises the internalization of folate into the cell may be involved in the pathogenesis of NTDs. For this reason, a common polymorphism in the RFC-1 gene encoding the reduced folate carrier protein (A80 G) could also be an additional NTD risk factor. In the present study we examined the genotypic distributions and the allele frequencies of MTHFR A1298 C and RFC-1 A80 G polymorphisms in DNA samples from healthy Italian individuals and compared them to the frequencies observed in NTD cases and their parents. By means of restriction enzymatic analysis, we determined that the frequency of the mutated C allele of the A1298 C mutation was 0.25 among control individuals, which is in the range of that recently reported in other ethnic groups. However, we report that the mutant C allele frequencies are significantly higher among NTD cases and case mothers than among controls (0.39, 0.44, 0.25). Furthermore, for the RFC-1 A80 G mutation, we found that the frequency of the G allele of the RFC-1 mutation was 0.46 in the control population, suggesting that this is a common polymorphism in the Italian population. In spite of the high prevalence of the 80 G/G genotype among healthy subjects, we observed an increased frequency of the G allele in NTD-affected children, and their mothers and fathers. These preliminary results indicate that both the MTHFR and RFC-1 polymorphisms may play a role in NTD risk, at least in the Italian population. Further studies should be directed toward the evaluation of the level of risk conferred by the mutant MTHFR and RFC-1 genotypes, as well as the interaction between these genetic determinants and other nutritional and environmental factors.

Folate pathway gene alterations in patients with neural tube defects.

Periconceptional folate supplementation reduces the recurrence and occurrence risk of neural tube defects (NTD) by as much as 70%, yet the protective mechanism remains unknown. Inborn errors of folate and homocysteine metabolism may be involved in the aetiology of NTDs. Previous studies have demonstrated that both homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, and combined heterozygosity for the C677T and for another mutation in the same gene, the A1298C polymorphism, represent genetic risk factors for NTDs. In an attempt to identify additional folate related genes that contribute to NTD pathogenesis, we performed molecular genetic analysis of folate receptors (FRs). We identified 4 unrelated patients out of 50 with de novo insertions of pseudogene (PS)-specific mutations in exon 7 and 3'UTR of the FRalpha gene, arising by microconversion events. All of the substitutions affect the carboxy-terminal amino acid membrane tail, or the GPI anchor region of the nascent protein. Furthermore, among 150 control individuals, we also identified one infant with a gene conversion event within the FRalpha coding region. This study, though preliminary, provides the first genetic association between molecular variations of the FRalpha gene and NTDs and suggests that this gene can act as a risk factor for human NTD.

[Anomalies of phospho-calcium metabolism during antiepileptic treatment]. / Anomalie del metabolismo fosfo-calcico nel corso di trattamento antiepilettico.

It is known that, particularly in Nordic States, many patients undergoing antiepileptic therapy with Phenobarbital and Phentoin present disorders of the phospho-calcium metabolism, both clinical and biochemical. For what concerns the mediterranean area, few are the papers written concerning this subject in these last years. In this paper we attempt to provide a "case study" contribution (100 cases) to enable us to study the above-mentioned alteration focusing on an area half way between Central and Southern Europe. The Authors discuss the possible mechanism implicated in this affection.