C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease.

OBJECTIVE: To test the hypothesis that the heterozygous state for HFE gene mutations involved in the pathogenesis of hemochromatosis, that may induce an increase of hepatic iron content, may aggravate the liver damage induced by prolonged and excessive use of ethanol. PATIENTS AND METHODS: C282Y and H63D mutations of HFE gene were identified through polymerase chain reaction (PCR) on leukocyte DNA, in 125 consecutive patients diagnosed of advanced alcoholic liver disease (109 men, mean age 54 years, SD 11) and 181 healthy controls. All subjects were white Spaniards. RESULTS (CASES/CONTROLS): 1. Genotype distribution: a) mutation C282Y: no homozygotes, 10/23 heterozygotes, 115/158 normal (p = 0.60); b) mutation H63D: 9/5 homozygotes, 46/52 heterozygotes, 70/124 normal (Chi square 6.51, p = 0.039). 2. Allele frequencies: a) mutation C282Y: 240/339 normal, 10/23 mutated (p = 0.21); b) mutation H63D: 186/300 normal, 64/62 mutated (odds ratio 1.66, 95% CI 1.10-2.52, p = 0.01). CONCLUSIONS: Our results suggest that H63D mutation of the HFE gene, but not the C282Y mutation, is associated to the risk of developing advanced liver alcoholic disease.

[Glycogenosis type III and Crohn disease with associated ankylopoietic spondylitis and secondary amyloidosis. An unusual coincidence]. / Glucogenosis tipo III-A y enfermedad de Crohn con espondilitis anquilopoyética asociada y amiloidosis secundaria. Una singular coincidencia.

We present a member of a family with glycogen deposit disease (GDD) type III (Forbes-Cori's disease) confirmed postmortem through enzymatic analysis of the hepatic and muscular tissues, coinciding with a Crohn's disease associated to ankylopoietic spondylitis, with final development of an extended secondary amiloidosis, all of these diagnosis established in life of the patient and verified in necropsy. We comment this rare finding, the absence of similar cases in the bibliography and the fortuitous nature of this association given the impossibility to suggest another relationship.

[Severe and disseminated infection by cytomegalovirus in immunocompetent patient]. / Infección diseminada y severa por citomegalovirus en paciente inmunocompetente.

Usually, cytomegalovirus infection dosen't cause symptoms in immunocompetents patients although sometimes can. In alcoholic and cirrhotic subjects can cause several and fatal infections. We describe a case of disseminated cytomegalovirus infection in an alcoholic patient with excellent response to ganciclovir.

[Intermittent obstructive jaundice as a form of presentation of duodenal diverticulum]. / Ictericia obstructiva intermitente como forma de presentación de un divertículo duodenal.

We report the case of a previously well 89-years-old-healthy man who presented at least four episodes of intermittent obstructive jaundice during the eight months prior to admission in our Hospital. Studies revealed a duodenal diverticulum arising near of the ampulla of Vater. We believed the diverticulum was responsible for the intermittent obstructive jaundice and we performed a choledochoduodenostomy. He had no postoperative complications and was discharged from the hospital asymptomatic. This case documents an uncommon presentation of this disease generally asymptomatic with intermittent obstructive jaundice episodes.

[Addition of ritanserin to the treatment with propranolol in cirrhotic patients: effects on portal pressure]. / Adición de ritanserina al tratamiento con propranolol en enfermos cirróticos: efectos sobre la presión portal.

The use of vasodilators to prevent the rupture of esophagic varices (EV) due to portal hypertension (PH) would reduce the portal pressure (PP) as the result of increased portocolateral flow. Rinsaterine, a 5-HT2 receptor blocker, reduces PP in experimental models of PH. This pilot study was designed to verify if ritanserine has a sustained and additive effect to propranolol on PP in cirrhotic patients with PH. Ten chronic patients with EV, under prophylactic therapy with propranolol and with a suprahepatic venous pressure gradient (SVPG) > 12 mm Hg, received ritanserine (0.11-0.14 mg/kg/day). One patients completed one month of treatment due to drug intolerance. Nine patients completed one month of treatment; SVPG did not show any significant variation in four patients and decreased 3 mm Hg in five patients, which were treated during 70 days more. After then, HVPG returned to its previous values except in one patient. The long-term association between ritanserine and propranolol does not improve the results of propranolol. However, the initial response observed in all of these patients supports the role of the serotoninergic system in the PH and states the need for further studies on 5-HT2 blocking for the prophylaxis of EV rupture.

[Peritoneal mesothelioma and complete auriculo-ventricular block as late complications in Hodgkin's disease]. / Mesotelioma peritoneal y bloqueo aurículo-ventricular completo como complicaciones tardías de la enfermedad de Hodgkin.

A patient who had been successfully treated of Hodgkin's disease (nodular sclerotic type) with mediastinal radiotherapy and polychemotherapy, suffered an acute pericarditis immediately after radiotherapy and a complete atrial-ventricular block 14 years later. Five years later she presented refractory hemorrhagic peritonitis. Necropsy study showed a peritoneal mesothelioma (in non radiated area) and diffuse subpericardial fibrosis. Complete A-V block is a very rare late complication of mediastinal radiotherapy and mesotheliomas (almost exclusively in irradiated areas), also. We have not found any reports on other cases of peritoneal mesotheliomas not attributable to radiotherapy as second neoplasia in Hodgkin's disease.

Papel del peritoneo en la patogenia de la alteración pulmonar en la pancreatitis aguda / Role of the peritoneum in the pathogenesis of acute pancreatitis-associated lung injury

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