Clinical and demographical risk factors for disabling CD and reoperation were determined and their impact was quantified by means of risk matrices, which are applicable as bedside clinical tools that can help physicians during therapeutic decisions in early disease management.

Although neither early surgery nor immunosuppression seem to be able to prevent global disabling disease, an early start of immunosuppression by itself is associated with fewer surgeries and should be considered in daily practice as a preventive strategy.

The authors present the clinical case of an 87-year-old Caucasian male admitted to the emergency room with hematemesis. He had a history of intermittent dysphagia during the previous month. Endoscopic evaluation revealed an eccentric, soft esophageal lesion located 25-35 cm from the incisors, which appeared as a protrusion of the esophagus wall, with active bleeding. Biopsies were acquired. Tissue evaluation was compatible with a melanoma. After excluding other sites of primary neoplasm, the definitive diagnosis of Primary Malignant Melanoma of the Esophagus (PMME) was made. The patient developed a hospital-acquired respiratory infection and died before tumor-directed treatment could begin. Primary malignant melanoma represents only 0.1% to 0.2% of all esophageal malignant tumors. Risk factors for PMME are not defined. A higher incidence of PMME has been described in Japan. Dysphagia, predominantly for solids, is the most frequent symptom at presentation. Retrosternal or epigastric discomfort or pain, melena or hematemesis have also been described. The characteristic endoscopic finding of PMME is as a polypoid lesion, with variable size, usually pigmented. The neoplasm occurs in the lower two-thirds of the esophagus in 86% of cases. PMME metastasizes via hematogenic and lymphatic pathways. At diagnosis, 50% of the patients present with distant metastases to the liver, the mediastinum, the lungs and the brain. When possible, surgery (curative or palliative), is the preferential method of treatment. There are some reports in the literature where chemotherapy, chemohormonotherapy, radiotherapy and immunotherapy, with or without surgery, were used with variable efficacy. The prognosis is poor; the mean survival after surgery is less than 15 mo.

We describe the molecular study in a cohort of 120 Portuguese patients with the clinical diagnosis of Gilbert syndrome and in one with the diagnosis of Crigler -Najjar syndrome type II, as well as a prenatal diagnosis of Crigler -Najjar syndrome type I. Among the 120 unrelated patients with Gilbert syndrome, 110 were homozygous for the [TA] . Additional studies in these 9 patients revealed heterozygosity for the c.674T>G, c.488 _ 491dupACCT and c.923G>A mutations, in 1, 1 and 4 patients, respectively. The patient with Crigler -Najjar syndrome type II was a compound heterozygote for [TA]7 and the c.923G>A mutation. The undocumented polymorphisms c.-1126C>T and c.997-82T>C were also detected in the course of this study. Prenatal diagnosis in a family with a boy previously diagnosed as Crigler -Najjar syndrome type I and homozygosity for the c.923G>A mutation revealed that the fetus was unaffected.Homozygosity for the [TA] insertion was found to be the most frequent cause of GS in our population. Identification of further mutations in the UGT1A1 gene was also seen to contribute significantly towards diagnosis. D

A multilocus approach using autophagy-related genes provides insight into CD phenotype-genotype associations and genetic markers for predicting therapeutic responses.

Gastrointestinal lipomas are benign, non-epithelial, slowly growing tumors. The majority are located in the colon (60-75%), followed by the small bowel (20-25%). Gastric lipomas (GLs) are rare and usually located in the antrum (1,2). Case reportWe report the case of a 44-year-old man that was admitted to the emergency department with a history of tiredness and intermittent melena for the previous month. He denied abdominal pain, dyspeptic symptoms, and anorexia or weight loss; there was no intake of non-steroidal anti-inflammatory drugs. Past medical history was significant for arterial hypertension, obesity and sleep apnea syndrome. An esophagogastroduodenoscopy (EGD) performed 5 years earlier was described as normal. Physical examination was unremarkable, except for pallor and obesity (body mass index 34 kg/m 2 ). Laboratory tests showed a decreased hemoglobin (7,8 g/dL); the remaining blood cell count and chemistry profile were within normal limits. Emergency EGD revealed a subepithelial mass at the gastric fundus, approximately 4 cm in diameter, with a central ulceration where a yellowish tissue suggestive of fat was protruding ( Fig. 1) -a lipoma or liposarcoma was suspected. An endoscopic ultrasonography (EUS) was performed, showing a hyperechoic mass within the submucosal layer, mildly heterogeneous at the luminal border (Fig. 2). A computerized tomography (CT) was also performed which revealed a homogeneous mass with fat density in the gastric fundus, with well demarcated margins, with a notch on the side facing the lumen (corresponding to the ulceration saw at EGD); no secondary lesions were present (Fig. 3). The patient was submitted to partial gastric resection (Fig. 4) and was discharged 10 days after the procedure; no incidents were reported. Histological examination confirmed the diagnosis of submucosal lipoma and ulceration of the overlying mucosa (Fig. 5).

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