Polymorphisms of alpha-actinin-3 and ciliary neurotrophic factor in national-level Italian athletes.

AIM: The R577X polymorphism of the alpha-actinin-3 (ACTN3) gene and the IVS1-6G>A polymorphism of the ciliary neurotrophic factor (CNTF) gene have been associated with a favourable muscle phenotype (more muscle fibres with high glycolytic activity), reduced predisposition for congenital dystrophy and resistance to sarcopenia in old age. The aim of this study was to look for evidence of selective pressure towards genotypes favourable for strong muscle activity in a sample of national-level Italian athletes. METHODS: We analysed two stop codon polymorphisms in the DNA of 50 Italian athletes, specialised in power or endurance sports, and compared their genotypic distribution with those of a population of 50 controls. In a representative sub-group of athletes (N.=42) we then compared the genetic data with anaerobic threshold, assessed by an incremental exercise test up to exhaustion. RESULTS: The athlete group showed an allelic distribution of ACTN3 (R/R:64%, R/X:16%, X/X:20%) and CNTF (G/G:72%, G/A:26%, A/A:2%), significantly imbalanced towards alleles R/R and G/G, respectively, compared to controls (ACTN3=R/R:40% R/X:22% X/X:38% and CNTF=G/G:52%, G/A:24%, A/A:24%) (p=0.0024 and p=0.0001, respectively). Only the ACTN3 577X/X polymorphism showed a significant association with the anaerobic threshold of athletes (F-ratio= 4.037; p=0.025). Factorial ANOVA demonstrated a non significant interaction between favourable allelic patterns of ACTN3 and CNTF genes on aerobic performance in the athlete group. CONCLUSION: The relationship found between favourable muscle phenotype and this genetic profile may have interesting implications in sport performance and training, athlete selection and different clinical activities, such as physical rehabilitation and modifying phenotypes associated with neuromuscular diseases.

Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease.

Stargardt disease was diagnosed in 12 patients from 12 families using complete ophthalmologic examination, fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography. DNA was extracted for polymerase chain reaction (PCR) and direct DNA sequencing (ABCA4 gene). Genetic counseling and eye examination were offered to 16 additional family members. Various patterns of presentation were observed in patients with clinical diagnoses of Stargardt disease. The genetic study identified 2 mutations in 75% of families (9/12); a second mutation could not be found in the remaining 25% of families (3/12). The most frequent mutation was G1961E, found in 17% of families (2/12). This finding is similar to that of a previous analysis report of an Italian patient series. Four new mutations were also identified: Tyr1858Asp, Leu1195fsX1196, p.Tyr850Cys, and p.Thr959Ala. Our results suggest that PCR and direct DNA sequencing are the most appropriate techniques for the analysis of the ABCA4 gene. However, this method requires supplementation with specific PCR analysis to diagnose large deletions. The study of the families identified healthy carriers and affected subjects in presymptomatic stages and was also useful for evaluating the risk of transmission to progeny. Combined ophthalmologic and genetic evaluation enabled better clinical management of these families.

[Our experience in the surgical treatment of mesenchymal gastric tumors]. / La nostra esperienza nel trattamento chirurgico dei tumori mesenchimali dello stomaco.

A retrospective review on 22 patients with gastric mesenchymal tumors, who underwent surgical treatment in the period 1974-2003, is presented. The aim of the study was to review our cases in the light of the new pathologic and immunohistochemical definitions and to analyse the value of clinical signs, diagnostic methods and principles of surgical technique. The Authors conclude that no specific clinical signs have been detected. Endoscopy plays a very important diagnostic role and CT-scan is the most sensible technique in the evaluation of location, size, invasion of adjacent organs and metastasis. The aim of treatment must be the complete resection of the tumor and the prognostic prediction on the basis of histologic findings is quite difficult.

[Laparoscopic treatment of liver hydatid cyst: personal technique]. / Il trattamento chirurgico laparoscopico delle cisti idatidee epatiche: tecnica personale.

Treatment of liver hydatid cyst is still controversial. Besides medical treatment, interventional radiologic techniques and traditional surgery, recently the laparoscopic approach has been proposed. Laparoscopic treatment of liver hydatid cyst, however, has not been well defined so far and seems to be associated with a recurrence rate from 0 to 9%, in a 3-49 months follow-up. Disadvantages of the laparoscopic approach are difficult control of spillage, peritoneal dissemination of parasites and incomplete aspiration of high density fluid contents of the cyst. The authors have reviewed the literature and describe a personal technique to avoid this disadvantage and to reduce postoperative recurrence rate.

[Milligam-Morgan hemorrhoidectomy and stapled mucoprolapsectomy. Clinical comparison of the results]. / L'emorroidectomia secondo Milligan-Morgan e la mucoprolassectomia con stapler. Valutazione clinica comparativa dei risultati.

The aim of this retrospective study was to assess the results of treatment for hemorrhoids by Milligan-Morgan hemorrhoidectomy and by stapled mucoprolapsectomy in terms of operative time, postoperative pain, lenght of hospital stay, incidence of early and late complications, time to return to work and to normal social activities and patient satisfaction. Between January 2002 and December 2003, a total of 65 patients with hemorrhoids (35 men and 30 women with a mean age of 46.9 years) underwent surgical treatment: 41 patients underwent conventional hemorrhoidectomy and 24 patients stapled mucoprolapsectomy. All patients were contacted by phone or were reviewed in the outpatient clinic with a mean follow-up of 2 months (range 8-31). The Authors emphasize that it is difficult to make an objective comparison between hemorrhoidectomy and stapled mucoprolapsectomy because the two procedures are completely different in terms of rationale and technique; however, stapled circumferential mucosectomy in their experience causes less postoperative pain and bleeding and can be considered a valid therapeutic option for third- and fourth-degree disease.

Multiple primary malignancies. A rare case of five metachronous tumours.

The Authors report on a patient admitted several times for the occurrence of five multiple metachronous primary malignancies (laryngeal carcinoma, endometrial adenocarcinoma, rectal cancerous polyp, Vaterpapilla carcinoma and transverse colon cancer). All five carcinomas were independent primary cancers and the lenghty time intervals between the onsets of each individual tumours confirm their independent non-metastatic origin. Classification, pathogenesis, genetic and environmental interactions of these tumours are discussed; in the case reported a family history of colon cancer was present, while no genetic markers abnormalities or chronic exposure to carcinogens were found. The case report suggests that an aggressive, appropriate surgical approach together with a through follow-up monitoring offers a chance of long-term survival for patients with metachronous malignant primary tumours.

[The abdominal wall: an overlooked cause of pain]. / La parete addominale: una trascurata fonte di dolore.

Abdominal wall pain is frequently misdiagnosed as arising from visceral source, often resulting in inappropriate diagnostic tests, unsatisfactory treatment and high costs. The Authors describe the various causes of abdominal wall pain with particular regard to abdominal cutaneous nerve entrapment syndrome. They analyze the main features of abdominal wall pain: a localized tender trigger point can be frequentely identified, the Carnett's sign is positive and the local injection of an anesthetic agent into the trigger point can be diagnostic and therapeutic, while image techniques are useful when the pain results from structural conditions. At last they describe the therapeutic options.

[Gastric diverticulum. A case report with long-term follow-up and a review of the literature]. / Il diverticolo dello stomaco. Descrizione di un caso clinico con follow-up a lungo termine e revisione della letteratura.

A rare case of symptomatic gastric diverticulum surgically managed is reported. The pathogenetic and clinical aspects of the disease are discussed and the usefulness of endoscopy as a means for differentiation between medical and surgical cases is stressed. A review of the literature is made and the conclusion is drawn that this uncommon pathology is often asymptomatic and requires surgical management only in complicated cases and in symptomatic patients that are not responding to medical treatment, as showed by the long-term follow-up (333 months) of the reported case.

Comparative retrospective study on the use of plastic prostheses and self-expanding metal stents in the palliative treatment of malignant strictures of the esophagus and cardia.

Palliative treatment of malignant strictures of the esophagus and cardia is usually carried out by the endoscopic placement of a prosthesis. The aim of this retrospective study was to evaluate short- and long-term outcomes of the use of expandable stents, compared with conventional plastic prostheses. One hundred and thirteen endoscopic intubations were carried out in 120 patients affected by malignant stenosis of the esophagus and cardia using plastic prosthesis and self-expanding metal stents. Dysphagia was scored according to Atkinson and Ferguson's classification and the preoperative median score (3.6) was comparable in both groups. The technical success rate was 94.4% with plastic prosthesis and 93.7% with self-expanding metal stent while the functional success rate was, respectively, 85.2% and 88.8%. Three deaths occurred with plastic prostheses (4.4%), while no deaths were observed with metal stents. A comparative analysis of the results of this study suggests that the endoscopic placement of self-expanding metal stents is effective and safe and has to be preferred to the conventional plastic prosthesis for easier implantation and lower morbidity.

[Gastric stromal tumors. Our experience in 21 cases surgically managed]. / I tumori stromali dello stomaco. La nostra esperienza su 21 casi trattati chirurgicamente.

BACKGROUND: A retrospective review on 21 patients with gastric stromal tumors who underwent surgical treatment in the period 1974-2001, is presented. METHODS: The patients were 8 males and 13 females, with an average age of 62.6 years. Histological examination showed 15 smooth muscle tumors (9 benign and 6 malignant), 5 neural tumours (3 benign and 2 malignant) and 1 undifferentiated tumor. Main symptoms were abdominal pain and palpable abdominal mass and the most sensible diagnostic techniques were endoscopy and abdominal CT-scan. Surgical procedures performed were: local resection (15 cases), partial gastric resection (3 cases), subtotal gastrectomy (2 cases) and total gastrectomy (1 case). RESULTS: There were no operative mortality and morbidity. Among 12 patients with benign GSTs, 1 died for causes not related to the disease, while 11 patients are still alive and in good health after a mean follow-up of 148.5 months (range 6-262). Among patients with malignant muscular GSTs, 3 were lost to follow-up and 3 are alive and free from disease after a median follow-up of 58 months (range 3-108). The 2 patients with malignant neural GSTs are still alive and in good health 140 and 24 months after surgical procedure, while the patient with undifferentiated GST died for liver metastases 43 months after total gastrectomy. CONCLUSIONS: The authors conclude that the most frequent symptoms are abdominal pain and a palpable mass, but no specific signs have been detected. Endoscopy plays a very important diagnostic role and CT-scan is the most sensible technique in the evaluation of location, size, invasion of adjacent organs and metastasis. The aim of treatment must be the complete resection of the tumor and the prognostic prediction on the basis of histologic findings is quite difficult.

[Helicobacter pylori and gastric cancer. The incidence of infection in personal experience]. / Helicobacter pylori e carcinoma gastrico. Incidenza della colonizzazione batterica nella nostra esperienza.

BACKGROUND: Helicobacter pylori is an identified carcinogen for gastric cancer, but the underlying mechanisms remain to be defined. The aim of this study is to analyze the incidence of Hp infection in our series of patients with gastric carcinoma. METHODS: Between 1988 and 1998, 60 patients with diagnosis of gastric adenocarcinoma underwent partial or total gastrectomy. Forty-one were males and 19 females with an average age of 62 years (range 36-79). Twenty-seven cancers (45%) were localized in the lower third of the stomach, 17 (28%) in the middle third and eight (13%) in the upper third or cardias. In six patients (10%) the tumor was multicentric, while a recurrence on gastric stump after subtotal gastrectomy was present in two cases (3%). According to Lauren's criteria 39 cancers (65%) were of intestinal type, 16 (27%) of diffuse type and five (8%) of mixed type. The histologic preparations have been re-examined in order to verify the presence or not of Hp on gastric mucosa around neoplasm. RESULTS: Hp was found in 35 (58%) of the analyzed specimens and therefore a significant percentage of patients was Hp-positive at the time of diagnosis and surgery. Between 35 Hp-positive samples, 24 were adenocarcinomas of intestinal type, nine of diffuse type and two of mixed type, with a prevalence of Hp in intestinal type cancer. CONCLUSIONS: This study confirmed the high incidence of Hp infection in patients with gastric carcinoma, particularly in those with intestinal type cancer.

[Pancreatic pseudocysts. Our experience with 21 cases treated surgically]. / Le pseudocisti del pancreas. La nostra esperienza su 21 casi trattati chirurgicamente.

Twenty-one consecutive patients with pancreatic pseudocyst have been reviewed. Nine cases have been treated with internal drainage, 9 with external drainage, while 3 patients have undergone distal pancreatectomy. No mortality was associated to the surgical treatment, while morbidity was of 9.5% due to pancreatic fistulas. Based on their own experience and literature review the Authors describe clinical, diagnostic and therapeutic features of the disease and point out the good results of cistojejunostomy with Roux-en-Y loop.

[Multiple primary malignant neoplasms. Report of a rare case with 5 metachronous tumors]. / Le neoplasie maligne primitive multiple. A proposito di un raro caso con cinque tumori metacroni.

The Authors report on a patient admitted several times for the occurrence of five multiple metachronous primary malignancies (laryngeal carcinoma, endometrial adenocarcinoma, rectal cancerous polyp, ampulla of Vater carcinoma and transverse colon cancer). All five carcinomas were independent primary cancers, and the lengthy time intervals between the onsets of the individual tumours supports their independent non-metastatic origin. Classification, pathogenesis, genetic and environmental interactions of multiple tumours are discussed. In the case reported, a family history of colon cancer was present, while no genetic marker abnormalities or chronic exposure to carcinogens were found. The case report shows that an aggressive, appropriate surgical approach together with thorough follow-up monitoring offers a chance of long-term survival for patients with metachronous malignant primary tumours.

[Surgical treatment of redundant colon after retrosternal esophagocolonoplasty for caustic esophageal stenosis]. / Il trattamento chirurgico della ridondanza colica dopo esofagocolonplastica retrosternale per stenosi esofagea da caustici.

The Authors report two cases of transposed colon redundancy occurring after surgical treatment in 37 patients with caustic oesophageal strictures by retrosternal oesophagoplasty. Surgical management was required because of persistent dysphagia and weight loss in both patients. The technique performed was a resection of the redundant loop with a termino-terminal colo-colonic anastomosis via a right thoracic approach.

[Our experience in the surgical treatment of gastrointestinal stromal tumors]. / La nostra esperienza nel trattamento chirurgico dei tumori stromali gastrointestinali.

The authors carry out a retrospective review of 30 patients with gastrointestinal stromal tumours (GISTs) who underwent surgical treatment over the period from 1974 to 2001. Sixteen were male and 14 female, with an average age of 60.9 years. Histologically, 19 tumours showed evidence of differentiation towards smooth muscle elements (10 benign and 9 malignant), 9 towards neural elements (3 benign and 6 malignant) and 2 iacked differentiation towards either cell type. Twenty-one tumours were located in the stomach, 1 in the duodenum, 3 in the jejunum and 5 in the ileum. The main symptoms were abdominal pain and abdominal masses, and the most sensitive diagnostic techniques were abdominal CT scan and endoscopy in gastroduodenal locations. In 21 gastric GISTs, the surgical procedures were local resection (15 cases), partial gastric resection (3 cases), subtotal gastrectomy (2 cases) and total gastrectomy (1 case). In 8 small bowel GISTs, we performed a typical intestinal resection while duodenal undifferentiated GIST was managed by pancreatico-duodenectomy. There was no operative mortality or morbidity. Among the 13 patients with benign GISTs, 1 died of causes unrelated to the disease, while 12 patients are still alive and in good health after a mean follow-up of 148.5 months (range: 6-262). Among patients with malignant muscular GISTs (6 gastric and 3 ileal), 3 with gastric tumours were lost to follow-up, 3 with gastric and 1 with ileal neoplasms are alive and free from disease after a median follow-up of 58 months (range 3-108), while 2 patients with ileal neoplasms died of metastatic disease 39 and 29 months after the surgical procedure. Among 6 patients with malignant neural GISTs (2 gastric, 2 jejunal and 2 ileal) 1 with a gastric tumour and 1 with a jejunal tumour were lost to follow-up, while 3 are still alive and in good health after a median follow-up of 67.6 months (range 19 to 94); another with jejunal disease developed liver metastases 14 months after small bowel resection and died 12 months later. The two patients with undifferentiated GIST both died of liver metastasis 38 months after pancreatico-duodenectomy and 43 months after total gastrectomy. The most frequent symptoms were abdominal pain and a palpable mass, but no specific signs were detected. In gastroduodenal lesions endoscopy plays a very important diagnostic role and CT scan is the most sensitive diagnostic technique in the evaluation of location, size, invasion of adjacent organs and metastases. Prognostic prediction on the basis of histological findings is difficult and in our experience undifferentiated tumours are always malignant.

[Duodenal duplication. Report of 2 cases in adults and review of the literature]. / La duplicazione del duodeno. Descrizione di due casi nell'adulto e revisione della letteratura.

Two cases of adult male patients with symptomatic duodenal duplication cysts are reported. The clinical manifestations were vomiting and epigastric pain in the first case and recurrent pancreatitis with a palpable mass in the right upper quadrant of the abdomen in the second. In both cases the diagnosis was only histological and the patients recovered after local excision of the duplication and duodenopancreatectomy, respectively. These two cases prompted an evaluation of the diagnostic features and surgical treatment of duodenal duplication cysts.

[Malignant stromal tumors of the duodenum. Report of a case]. / I tumori stromali maligni del duodeno. A proposito di un caso.

The Authors report a rare case of undifferentiated duodenal malignant stromal tumour in a 69-years-old man radically managed by pancreaticoduodenectomy and resection of a liver metastasis. Several preoperative tests were performed (barium meal, endoscopy, ultrasonography and CT scan) but failed to yield a differential diagnosis between a tumour of the pancreatic head and a retroperitoneal neoplasm. The diagnosis was only histological. The tumour was considered to be high-grade due to its large size, high mitotic index, and the presence of necrosis and liver metastasis. Thorough surveillance revealed several hepatic metastases 29 months after resection, and chemotherapy performed at this stage proved completely ineffective. The patient died 38 months after surgery.

Primary cutaneous cryptococcosis in an immunocompetent pigeon keeper.

We report the case of a pigeon keeper who presented with a post-traumatic lesion of his third right finger. Cryptococci were found in the lesion in the absence of any other underlying disorder. Treatment with oral itraconazole achieved clinical resolution of the lesion.

Impairment of vitamin A uptake by rat hepatocytes and fat storing cells determined by Monensin--morphological observations.

The action of the Na+/H+ antiport monensin on vitamin A uptake by rat liver has been studied in vivo. The quickfading autofluorescence of vitamin A has been used for the determination of vitamin A uptake by the liver. Pretreatment of rats intraperitoneally with monensin decreases the uptake of vitamin A by hepatocytes and its transfer for storage to fat storing cells. Pretreatment of rats intraperitoneally with vitamin A for a short time, then with monensin, shows that the hepatocytes no longer transfer vitamin A to fat storing cells for storage. These results might indicate that monensin impairs the uptake of vitamin A by the hepatocytes and might also impair the transport of vitamin A from parenchymal to perisinusoidal cells.