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C Lombari

Publications and source records attributed to C Lombari.

17 recordsLinked to original sources

[Peutz-Jeghers syndrome: case report and update on diagnosis and treatment].

Peutz-Jeghers syndrome is a rare autosomal dominantly inherited condition with an incidence of 1/120.000 liveborns, characterized by the presence of hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. This syndrome predisposes to various clinical problems such as intussusception and cancer development in different loci (gastrointestinal tract, breast and ovary). For this reason, PJS patients should undergo a surveillance protocol of the genital and gastrointestinal apparatus. Therefore, the early diagnosis of PJS in at-risk family members is very important in preventing cancer development. Germline mutations within the LKB1 or Serine Threonine Kinase (STK11) gene, located on chromosome 19p13.3, are responsible for most cases of PJS so far studied. The existence of a second locus is suspected on chromosome 19q13.4 in a minority of families. The LKB1 gene, recently cloned, encodes the Serine Threonine Kinase LKB1 and is ubiquitously expressed. The identification of the disease-causing mutation in each family makes it possible to perform a presymptomatic diagnosis; therefore, only the mutation carriers will undergo the clinical surveillance program. In this paper, the case of a PJS patient who has been surgically treated is presented. The DNA screening of the LKB1 gene in this patient has led to the identification of the causing mutation. A critical review of the literature and is also presented as well as the proposal to establish an Italian Registry of PJS.

Adult↗

A review of 240 patients undergoing distraction osteogenesis for congenital post-traumatic or postinfective lower limb length discrepancy.

BACKGROUND: We reviewed 281 lower limb lengthenings in 240 patients treated at three centers for congenital, post-traumatic, or postinfective limb length discrepancy (LLD) in the period 1984 to 1992. STUDY DESIGN: A retrospective review was done of hospital charts and radiographs of patients who had completed lengthening at least 12 months prior to the beginning of the study. The variables studied included patients' age at operation, the bone segment lengthened, whether a corticotomy or an osteotomy had been done, the amount of lengthening planned and achieved, the level(s) of corticotomy or osteotomy, the external fixator used, and the difficulties encountered. RESULTS: Limb length discrepancy was reduced within 2 cm (1.6 percent or lower) of the normal contralateral leg in 249 (89 percent) lengthenings in 208 patients. The average time spent with the fixator in situ was 186.4 days (range, 94 to 617 days), with an average healing index of 35.3 days per cm (range, 26 to 43 days per cm). Femoral osteotomies or corticotomies healed faster than tibial osteotomies or corticotomies. The healing index in post-traumatic and postinfective LLD was significantly lower than in congenital conditions. The younger patients showed a significantly decreased time to bone healing and fewer complications. CONCLUSIONS: A significantly greater number of difficulties were found in patients whose lengthening exceeded 18 percent of the original length of bone. Bifocal lengthenings healed significantly faster than single level ones. The three external fixators used were equally effective for lengthenings of less than 20 percent. The Ilizarov and the Monticelli-Spinelli circular fixators were associated with a significantly decreased number of complications when lengthenings above 20 percent were performed.

Adolescent↗

[Current problems of the surgical treatment of rectal cancer: analysis of the literature and personal experience].

The surgical procedure is a crucial factor in preventing local recurrence in rectal cancer, and total mesorectal excision (TME) particularly is widely accepted as being associated with a decreased local recurrence rate. In this study, concerning 187 patients with rectal cancer, we compare conventional surgery, performed in 140 patients from 1979 to 1993, with a standardised TME procedure in 47 patients over the period from 1994 to 1998. The first group not treated by TME were operated on for 56 (40%) tumours of the upper rectum and 84 (60%) of the lower rectum; 35 (25%) were Dukes' A, 77 Dukes' B and 28 (20%) Dukes' C. 42 abdominoperineal amputations (30%) and 98 anterior resections (70%) were performed. The second group in which TME was performed comprised 17 (36%) tumours of the upper rectum and 30 (64%) of the lower rectum, 8 (17%) in stage I AJCC (Dukes' A), 16 (34%) in II (B) and 23 (49%) in III (C). 9 abdominoperineal amputations (19%) and 38 anterior resections (81%) were performed, 8 (21%) with an ultra-low anastomosis. In the first group of patients we observed 28 local recurrences (20%) and a 5-year disease-free survival in 50% of cases. In the second group we achieved a decreased rate of local recurrence (10.6%) which is about half that observed after conventional surgery, but there was no significant difference in survival. These data confirm the effectiveness of TME in reducing local recurrence rate, according to the literature; in future this procedure can get to reconsider the role of adjuvant therapy in the management of rectal cancer.

Adenocarcinoma↗