Large gangliocytic paraganglioma of the duodenum: A rare entity

Gangliocytic paragangliomas are rare tumors that almost exclusively occur within the second portion of the duodenum. Although these tumors generally have a benign clinical course, they have the potential to recur or metastasize to regional lymph nodes. The case report presented here describes a 57-year-old female patient with melena, progressive asthenia, anemia, and a mass in the second-third portion of the duodenum that was treated by local excision. The patient was diagnosed with a friable bleeding tumor. The histologic analysis showed that the tumor was a 4 cm gangliocytic paraganglioma without a malignant cell pattern. In the absence of local invasion or distant metastasis, endoscopic resection represents a feasible, curative therapy. Although endoscopic polypectomy is currently considered the treatment of choice, it is not recommended if the size of the tumor is > 3 cm and/or there is active or recent bleeding. Patients diagnosed with a gangliocytic paraganglioma should be closely followed-up for possible local recurrence.     

Patient comprehension and recall of laparoscopic surgery and outcomes in a non-English speaking population.

BACKGROUND AND OBJECTIVES: The purpose of this study was to determine patient recall and comprehension after laparoscopic appendectomy in an underserved population. Laparoscopic surgery can lead to diagnostic uncertainty secondary to poor recall and variable port placement. METHODS: After institutional review board approval, we identified a cohort of patients who underwent laparoscopic appendectomy from 2000 to 2004 at a single institution. We then attempted to contact the patients to conduct a 10-question telephone survey, which determined whether the patient spoke English or Spanish as a primary language, ethnicity, educational level, and questions about recall of perioperative events and diagnoses. If we could not reach the patient, we tried to call back on 2 different occasions. RESULTS: Between 2000 and 2004, 186 patients underwent laparoscopic appendectomy. Of these, 65% were Hispanic. We found that only 17% of these patients returned for a postoperative visit. Only 19.3% could be contacted by phone. Forty-seven percent of the patients contacted by phone spoke Spanish exclusively. Overall 92% of patients contacted knew what operation they had, and gave their correct diagnosis. CONCLUSIONS: The low percentage of patients available to follow-up makes this study statistically insignificant. However, we believe that fact in itself is important. In Southwestern states, we see a large migrant population. This highlights the need to communicate effectively with the patients at the time of surgery, which we speculate we did based on the percentage of patients that knew their diagnosis.     

Case report. Transient nonketotic hyperglycinaemia: ultrasound, CT and MRI

We report a case of transient nonketotic hyperglycinaemia in which radiography correlated closely with clinical and biochemical findings. Only 5 patients have been previously described with this transient form of nonketotic hyperglycinaemia. Among the radiographic findings, thinning of the corpus callosum is the most characteristic. Received: 26 June 1996 Accepted: 29 November 1996     

rIFN-γ-mediated growth suppression of platinum-sensitive and -resistant ovarian tumor cell lines not dependent upon arginase inhibition

The purpose of translational research is to test, in humans, novel therapeutic strategies developed through experimentation. Translational research should be regarded as a two-way road: Bench to Bedside and Bedside to Bench. However, Bedside to Bench efforts have regrettably been limited because the scientific aspects are poorly understood by full time clinicians and the difficulty of dealing with humans poorly appreciated by basic scientists. Translational research would be most useful to the scientific community at large if journals would foster specific interest for the publication of ex vivo human observation. The review process for such work should be assigned to clinical scientists competent not only in the intricacies of molecular or cell biology but also intimate with the reality of Internal Review Boards, ethics committees, Governmental Regulatory Agencies and most importantly the humane aspects of dealing with sick individuals and their families. This approach may focus both basic and clinical scientists and those struggling to fill the gap between them on the effective treatment of diseases affecting women, men and children making translational research more than an interesting concept.     

Bruton tyrosine kinase gene mutations in Argentina

The block in differentiation from pro-B to pre-B cells results in a selective defect in the humoral immune response characteristic of human X-linked agammaglobulinemia (XLA). Mutations of Bruton tyrosine kinase (BTK) gene have been identified as the cause of XLA. Mutation detection is the most reliable method for making a definitive diagnosis, except when clinical and laboratory findings are distinctive and coupled with history of X-linked inheritance. To provide a definitive diagnosis to 40 families incorporated in the Argentinian Primary Immunodeficiencies Registry we analysed the BTK gene by SSCP analysis as screening method for XLA, followed by direct sequencing. The molecular defect was localized in 45 patients from 34 unrelated families. From the 34 independent mutations identified, 16 were previously undescribed, 31 were unique mutations, 22 were exonic single nucleotide changes (16 missense and 6 nonsense) and four intronic mutations. Because five families had clinical, immunological and inheritance data sufficient for a definitive diagnosis, our study allowed 37 patients from 29 families previously categorized probable/ possible XLA, have now definitive diagnosis leading to appropriate genetic counseling.     

Classification of clear-cell sarcoma as a subtype of melanoma by genomic profiling.

PURPOSE: To develop a genome-based classification scheme for clear-cell sarcoma (CCS), also known as melanoma of soft parts (MSP), which would have implications for diagnosis and treatment. This tumor displays characteristic features of soft tissue sarcoma (STS), including deep soft tissue primary location and a characteristic translocation, t(12;22)(q13;q12), involving EWS and ATF1 genes. CCS/MSP also has typical melanoma features, including immunoreactivity for S100 and HMB45, pigmentation, MITF-M expression, and a propensity for regional lymph node metastases. MATERIALS AND METHODS: RNA samples from 21 cell lines and 60 pathologically confirmed cases of STS, melanoma, and CCS/MSP were examined using the U95A GeneChip (Affymetrix, Santa Clara, CA). Hierarchical cluster analysis, principal component analysis, and support vector machine (SVM) analysis exploited genomic correlations within the data to classify CCS/MSP. RESULTS: Unsupervised analyses demonstrated a clear distinction between STS and melanoma and, furthermore, showed that CCS/MSP cluster with the melanomas as a distinct group. A supervised SVM learning approach further validated this finding and provided a user-independent approach to diagnosis. Genes of interest that discriminate CCS/MSP included those encoding melanocyte differentiation antigens, MITF, SOX10, ERBB3, and FGFR1. CONCLUSION: Gene expression profiles support the classification of CCS/MSP as a distinct genomic subtype of melanoma. Analysis of these gene profiles using the SVM may be an important diagnostic tool. Genomic analysis identified potential targets for the development of therapeutic strategies in the treatment of this disease.     

Treatment of oesophageal cancer with preoperative chemoradiotherapy may increase operative mortality

AIMS: This phase II multicentric study evaluates a modified preoperative chemoradiotherapy schedule. METHODS: Patients <75 years with potentially resectable neoplasm were eligible. Treatment included an initial course of CDDP 100 mg/m2 (Day 1) and 5-FU CI 5000 mg/m2 (Days 1-5) followed by 45 Gy (Days 28-63) and 5-FU CI 5000 mg/m2 (Days 28-33), CDDP 75 mg/m2 (Day 56) and 5-FU CI 3750 mg/m2 (Days 56-61). Regional lymph nodes were irradiated. RESULTS: Nineteen patients were studied. Oesophagectomy was performed in 17. Clear margins were achieved in 16 of these. Eight patients showed a pathologic complete response (pCR). One patient died of infection during the preoperative treatment and four died due to acute surgical complications. The study was closed prematurely because of excessive mortality. Median follow-up was 19 months. Local and regional relapse occurred in one and three patients, respectively. Median time and actuarial 3-year of overall survival and progression free rates were 18.6 months and 28%, and 12.7 months and 10.4%, respectively. CONCLUSIONS: This schedule showed a high pCR, resectability and local control rate. Treatment-related mortality limits its clinical applicability, but further investigations are warranted.