Luis Moreira Dias

Argon plasma coagulation therapy for hemorrhagic radiation proctosigmoiditis

BACKGROUND Radiation-induced proctosigmoiditis is a serious complication of pelvic radiation therapy. Rectal bleeding occurs among 6% to 8% of these patients and is extremely difficult to manage. Pharmacotherapy is generally ineffective, whereas surgical treatment is associated with high morbidity and mortality. Argon plasma coagulation is a new method of noncontact electrocoagulation well suited for hemostasis of large bleeding areas. METHODS From December 1996 through March 1998, we used argon plasma coagulation to treat 28 patients with hemorrhagic radiation-induced proctosigmoiditis. Indications for treatment were anemia (n = 18) and persistent bleeding despite pharmacotherapy (n = 10). Argon flow and electrical power were set at 1.5 L/min and 50 W. The severity of rectal bleeding was graded from 0 to 4 (highest), and hemoglobin levels were recorded before and after treatment. RESULTS Eighty-two therapeutic sessions were performed (median 2.9 sessions per patient). The severity score for rectal bleeding dropped at least 1 point for all but 2 patients, and the mean value decreased from 2.96 to 0.68. Average hemoglobin level increased 1.2 gm/dL (1.9 gm/dL among anemic patients). No serious complications were observed. CONCLUSIONS Argon plasma coagulation appears to be a simple, safe, and effective technique in the management of hemorrhagic radiation-induced proctosigmoiditis.

Abdominal haematoma--a mesotherapy complication.

Sir, Mesotherapy is a treatment directed at the mesodermderived tissues (bone, fat, muscle, cartilage) by injection of multiple compounds. Since first described by Pistor (1), it has been used for multiple purposes such as musculoskeletal and dermatological pathologies, aesthetics and chronic pain (2). In the last few years some side effects have been described (3). The utility of mesotherapy in the treatment of localized obesity is increasing because of its vasodilator and lipolytic potential (4). A major complication resulting after mesotherapy in the treatment of localized obesity is reported here.

A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families

Purpose: Although Lynch syndrome is characterized by marked genetic heterogeneity, some specific mutations are observed at high frequency in well-defined populations or ethnic groups due to founder effects.Methods: Genomic breakpoint identification, haplotype analysis, and mutation age determination were performed in 14 unrelated patients and 95 family members presenting the same MLH1 exonic rearrangement, among a series of 84 Lynch syndrome families with germline mutations in MLH1, MSH2, or MSH6.Results: All 14 probands harbored an identical deletion, comprising exons 17–19 of the MLH1 gene and exons 26–29 of the LRRFIP2 gene, corresponding to the MLH1 mutation c.1896 + 280_oLRRFIP2:c.1750-678del. This mutation represents 17% of all deleterious mismatch repair mutations in our series. Haplotype analysis showed a conserved region of approximately 1 Mb, and the mutation age was estimated to be 283 ± 78 years. All 14 families are originated from the Porto district countryside.Conclusion: We have identified a novel MLH1 exonic rearrangement that is a common founder mutation in Lynch syndrome families, indicating that screening for this rearrangement as a first step may be cost-effective during genetic testing of Lynch syndrome suspects of Portuguese ancestry, especially those originating from the Porto district.

The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.

The MSH2 c.388_389del mutation has occasionally been described in Lynch families worldwide. At the Portuguese Oncology Institute in Porto, Portugal, we have identified 16 seemingly unrelated families with this germline mutation. To evaluate if this alteration is a founder or a recurrent mutation we performed haplotype analysis in the 16 Portuguese index cases and 55 relatives, as well as in four index cases and 13 relatives reported from Germany, Scotland, England, and Argentina. In the Portuguese families we observed a shared haplotype of approximately 10 Mb and all were originated from the north of Portugal. These results suggest that this alteration is a founder mutation in Portugal with a relatively recent origin. In the reported families outside Portugal with this mutation different haplotype backgrounds were observed, supporting the hypothesis that it occurred de novo on multiple occasions. We also conclude that the high proportion of families with the MSH2 c.388_389del mutation indicates that screening for this alteration as a first step may be cost‐effective in the genetic testing of Lynch syndrome suspects of Portuguese ancestry, especially those originating from the north of Portugal.

Endoscopic ultrasonography in multiple lymphomatous polyposis.

&NA; Two cases of multiple lymphomatous polyposis (MLP) are presented, involving different segments of the gastrointestinal tract. Both cases display the characteristic clinical and pathologic features of MLP. In addition, we were able to document, for the first time, the endoscopic ultrasonographic findings in this disease. This new ancillary diagnostic technique was found to be very helpful in the evaluation of the structural changes of the wall of the gastrointestinal tract and in the detection of affected lymph nodes.

Colorectal carcinoma (CCR) recurrence — analysis and inducing factors

Purpose: To determine the characteristics of CCR that affected the pos-surgical recurrence and the most relevant aspects of the colic recurrence.