A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever.

Familial mediterranean fever (FMF) is an inherited autoinflammatory disorder characterized by recurrent episodes of fever and painful inflammation involving the intra-abdominal organs, the lungs and the joints, which is highly prevalent in specific ethnic groups including the Iranians. We report a 12-year-old boy from Iran, with a clinical history of recurrent fever. Based on the suggestive clinical data, mutational analysis revealed the presence of the novel c.1945C>T heterozygous variant in exon 10, which leads to a leucine to phenylalanine change at position 649 of the protein. The mutation was inherited from the mother. This novel mutation lies in exon 10 of the MEFV gene, which encodes for a domain called B30.2-SPRY, located in the C-terminal region of the pyrin protein and contains the most frequent mutations associated with FMF. The present report expands the spectrum of MEFV gene mutations associated with FMF. The uniqueness of this study, compared with other published case reports, consists in the new mutation found in the MEFV gene. In fact, new mutations in this gene are of high interest, in order to better understand the role of this gene in autoinflammation.

Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes.

The FCGR locus is characterized by high polymorphism and sequence homology. In particular, the Ile232Thr polymorphism in the FCGR2B gene results in inaccurate genotyping in most published papers. The purpose of the study was to develop an accurate genotyping assay able to discriminate this polymorphism.

The Frontal Behavioural Inventory (Italian version) differentiates frontotemporal lobar degeneration variants from Alzheimer's disease.

The objective was to evaluate the construct validity of the Italian version of the Frontal Behavioural Inventory (FBI) and its usefulness in the differential diagnosis of dementias. Standard criteria were used in the clinical diagnosis of dementias in 83 patients and 33 agematched healthy volunteers. The FBI scale was translated from English into Italian language and back-translated. Cronbach's alpha, inter-rater and test-retest reliability, FBI convergent validity and discriminant analysis were calculated. FBI profile was compared between patients affected by frontotemporal lobar degeneration (FTLD) and Alzheimer's disease (AD). The FBI showed a high internal consistency and inter-rater reliability and it distinguished normal behavioural conditions from those presented in FTLD or AD. An 86.8% diagnostic accuracy was calculated by the discriminant analysis, selecting only age at disease onset and FBI, and particularly distinguishing behavioural variants within the FTLD spectrum. FTLD patients showed a characteristic behavioural profile. The FBI might be a reliable and useful diagnostic tool for dementias in clinical practice.

[Neoplasms and kidney transplantation. Case contribution]. / Neoplasie e trapianto renale. Contributo casistico.

BACKGROUND: The incidence of malignancies after transplantation is higher when compared with expected cancer in control patients, particularly skin and female genital cancer, non-Hodgkin's disease and Kaposi's sarcoma. The aim of this study is to evaluate the frequency and the efficacy of the treatment of cancer following renal transplantation. METHODS: A retrospective analysis of 404 recipients was performed and it showed the onset of 15 cancers (8 skin cancers, 3 Kaposi's sarcomas, 2 renal carcinomas, 1 urotelioma and 1 colon cancer) in 11 patients (3.7%). At the time of diagnosis, the mean period of immunosuppressive therapy (7 cases of double therapy, 4 cases of triple therapy) was 44.8 months. Skin cancer (53.3%) and Kaposi's sarcoma (20%) were the most frequent in personal experience as reported in literature. Neither lymphomas, nor female genital cancers were detected. RESULTS: All the cases were surgically treated, except patients with Kaposi's sarcoma, whose immunosuppressive therapy was reduced without alteration of renal function. Death-rate was 0.25% (1 case), the remaining patients show no signs of local recurrence or metastasis with preserved renal function except for the patient with renal carcinoma of the transplanted kidney, who underwent nephrectomy and returned in replacement therapy. CONCLUSIONS: The conclusion is drawn that the research of relationship between type of immunosuppressive therapy and cancer incidence and careful clinical and instrumental examination of transplant patients may contribute to reduce the onset of neoplastic degenerations and lead to an early diagnosis.

[Complications in stomach cancer surgery. A review of cases]. / Complicanze in chirurgia gastrica oncologica. Revisione della casistica.

The improvement in surgical and anesthesiological techniques have allowed a reduction in oncological surgical morbidity and mortality. The objective of this retrospective study is to evaluate the morbidity and the mortality in oncological gastric surgery up to date. Between 1979 and 1994 we evaluated 281 patients for gastric cancer, of whom 249 underwent surgery. The patients ranged in age from 34 to 88 years, with a mean age of 67.8 years, and included 158 males and 91 females. An oncological radical excision was performed in 184 patients (122 gastroresections and 62 gastrectomies). The other 65 patients underwent exploratory or palliative surgery: 26 explorative laparotomies, 26 gastroenteroanastomoses, 9 gastroresections, 3 digiunostomies and one gastrostomy. The overall post-operative morbidity has been 40.1%, 27.3% was generic and 12.8% was surgical morbidity. The overall mortality has been 9.6%, of whom about one third following surgical complications. In our experience the factors related with morbidity and mortality have been: age, preoperative nutritional state and stage of the disease.

[Ileocolic invagination caused by ileal lipoma simulating cancer of the cecum. Description of a clinical case]. / Invaginazione ileocolica di lipoma ileale simulante un cancro del cieco. Descrizione di un caso clinico.

The authors describe the diagnostic difficulties that occurred during the study of a patient affected by a small bowel lipoma with ileo-colic intussusception, and operated for suspicion of colic neoplasm. The report suggests some evaluations about the reliability diagnostic techniques in the study of the small bowel.

[Criteria for a rational choice of treatment in biliary ileus. The authors' personal experience]. / Criteri per una scelta razionale di trattamento dell'ileo biliare. Esperienza personale.

Treatment of biliary ileus is still controversial in respect of surgical strategy. While some surgeons have agreed enterolithotomy as a simple and safe operation, others prefer to perform enterolithotomy, cholecystectomy and repair bilio-enteric fistula at the same time. The authors examine their experience and discuss various modalities of treatment to identify the rational method of therapy in these patients.

Endoscopic injection sclerotherapy of esophageal varices. Considerations on the first 85 patients.

Eighty-five consecutive cases of esophageal varices treated by endoscopic sclerotherapy are analyzed retrospectively. Most of these cases (84.7%) were done in emergency in patients (60) with poor liver function. Bleeding was stopped in 94.4% of cases but 22% of them had at least one rebleeding episode. Only a few and minor complications were observed. The safety and the immediate good results obtained by the procedure recommend it as a primary measure in bleeding esophageal varices. Moreover the actual role of endoscopic sclerotherapy as an elective or prophylactic procedure in the treatment of hemorrhage from esophageal varices, is discussed.

Abdominal aortic aneurysms: some controversial points.

A retrospective review of the surgical treatment of 51 abdominal aortic aneurysms is reported. Thirty-five (69%) patients were operated on electively, and 16 (31%) had emergency surgery. Fissurated aneurysms were included in the elective surgery group. The operative death rate was respectively 2.7% and 50%. Controversial points about diagnosis, treatment of associated diseases, surgical technique, and selection of the patients for surgery are presented and discussed.