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Biomedical subjects

E Pérez Becerra

Publications and source records attributed to E Pérez Becerra.

18 recordsLinked to original sources
PubMed2002

[Mutations in the HFE gene (C282Y, H63D, S65C) in alcoholic patients with finding of iron overload].

INTRODUCTION: The pathogenesis of iron overload in alcoholic individuals is not fully elucidated. The frequency of mutations in hereditary hemochromatosis (HFE) is high in this population. Heterozygotes show data of iron overload similar to those in alcoholic individuals. OBJECTIVE: To analyze whether iron excess among alcoholic individuals is associated with mutations in C282Y, H63D or S65C in the HFE gene. Patients and methods. Thirty-two active alcoholic individuals (29 males and 3 females, age range 30-67 years) with data of iron overload (increased serum ferritin with or without saturation of increased transferrin) were studied. In all individuals, mutations C282Y, H63D and S65C were investigated. From 16 cases, liver histology was available. Data on iron overload were compared between patients with and without mutations. RESULTS: Twenty-two patients (68.8%) did not show any mutation, one (3.1%) was heterozygous for C282Y, three (9.4%) were homozygous for H63D, four (12.5%) were heterozygous for H63D, and two patients (6.3%) were heterozygous for C282Y/H63D. None of the patients was homozygous for C282Y or presented mutation in S65C. Transferrin saturation, serum ferritin and liver iron index were similar among with and without mutations. Three patients (9.3%) were diagnosed of hemochromatosis. One of them was homozygous for H63D, other patient was heterozygous for the combined C282Y/H63D, and in the remaining patient none of the mutations was found. CONCLUSIONS: In our setting, iron overload among alcoholic individuals seems to be independent of the presence of mutations C282Y, H63D and S65C in the HFE gene.

Adult↗
PubMed2002

[Cocaine related fulminant liver failure].

A 23-year-old woman developed biochemical signs of acute severe hepatitis together with confusion and flapping tremor after snorting a large dose of cocaine. Blood levels of cocaine were very high and liver biopsy performed few days later showed centrilobular necrosis. She recovered completely with conservative measures. Cocaine toxicity should be considered in similar cases of fulminant liver failure.

Adult↗
PubMed1995

[Hepatitis C virus antibodies in alcoholic patients].

It has been reported that chronic alcoholics show a high prevalence of hepatitis C virus (HCV) infection, with a possible role in the pathogenesis and severity of underlying liver disease. Thus, the present study was aimed to evaluate the prevalence of HCV antibodies (anti HCV-Ab) in a group of patients admitted to an Internal Medicine Department, as well as to compare characteristics of anti-HCV-Ab(+ve) respect to anti-HCV(-ve) patients. The presence of anti-HCV-Ab was prospectively studied in 180 alcoholic patients admitted during a 16-month period using a second generation ELISA. Intravenous drug abusers were excluded. Reasons for admittance were as follows: alcohol withdrawal syndrome (92 cases), complications of liver cirrhosis (mainly ascites) (54 cases), acute pancreatitis (12 cases) and miscellaneous causes (22 cases). Sixty-six patients were cirrhotics, 23 had fatty liver, 27 had liver fibrosis and 28 alcoholic hepatitis (36 patients were not evaluable concerning liver lesion). Twelve patients (6.7%) were anti-HCV-Ab(+ve). Prevalence was higher in patients admitted because of complications of cirrhosis (16.7%) than that of those admitted due to alcohol abstinence syndrome (1.1%, p < 0.01). Likewise, the proportion of HVC-Ab(+ve) patients was higher in patients with liver cirrhosis (16.7%) respect to those with lesser degrees of liver injury (1.3%; p < 0.01). In the latter group, the prevalence of anti-HCV-Ab(+ve) was similar to that of the normal population. Anti-HCV-Ab patients were older than anti-HCV-Ab(-ve) cases.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1993

[Hypophosphatemic osteomalacia secondary to a vascular fibrous histiocytoma].

Management of an adult woman with a 3 years untractable low back pain, allowed us to discover the existence of hypophosphatemic osteomalacia, due to a benign mesenchymal tumor (vascular fibrous histiocytoma). The prognosis of this form of osteomalacia, as in the present case, is excellent after total removal of the tumor.

Adult↗
PubMed1991

[Toxic hepatitis from cinchophen: report of 3 cases].

Three cases of hepatic toxicity due to cincophen (a uricosuric drug used for the treatment of gout) are reported. The three patients were females aged 57, 60 and 67 years, respectively, who were treated with cincophen because of renoureteral urate stones. The mean dose was 300 mg/day for a mean duration of 3-4 months before the hepatotoxic features first developed. Cincophen induces hepatic necrosis through a hypersensitivity or metabolic idiosyncrasy mechanism with histologic abnormalities similar to those due to isoniazid, anticonvulsants, halothane and methyldopa. In two patients the disease presented as acute hepatitis. One had severe hepatic failure and died. Cincophen had been widely used in Europe and severe hepatotoxicity reactions have been reported since then (with a mortality rate of about 50%). It is still commercially available in Spain in two preparations as lithium cincophenate and piperacine. The present study has the aim of recalling the severe problems associated with cincophen hepatotoxicity, so that new cases can be prevented.

Aged↗
PubMed1991

[Alagille's syndrome: a family case and its association with hepatocellular carcinoma].

Two cases of Alagille syndrome are reported, father and son. This, a 6-year-old boy, presented with neonatal cholestasis but thereafter evolved with progressively decreasing jaundice and persisting pruritus. A liver biopsy confirmed the absence of intrahepatic bile ducts with preservation of hepatic architecture and no fibrosis. The patient had a characteristic phenotype: short stature, triangular face, deep eyes with hypertelorism, partial embryotoxon and data of peripheral pulmonary artery stenosis. His father died 43-year-old by a hepatocarcinoma. His liver biopsy showed also absence of intrahepatic bile ducts. In addition to the association Alagille's syndrome hepatocarcinoma (previously reported in six cases, three into the same family), it should be stressed in this case the long survival and the fact he had many children: the case with Alagille's syndrome, five children in good health, and one who died shortly after birth.

Abnormalities, Multiple↗
PubMed1989

[Whipple's disease and splenomegaly with negative intestinal biopsies].

A case is presented of a patient with a picture of acute gastroenteritis and splenomegaly. Microscopic study of the spleen and a lymph node showed the characteristic findings of Whipple's disease, although no digestive alteration was found, in spite of performing several duodenal and jejunal biopsies. The etiopathogenesis of this entity is commented on and discussed.

Adult↗
PubMed1989

[Hepatic cystadenoma: report of a case].

A case is presented of bilobar hepatic cystadenoma. This is a rare benign tumor in which an adequate preoperative diagnosis is important for correct treatment. A review is made of the literature and controversial aspects of this infrequent lesion are discussed.

Adolescent↗
PubMed1988

[Polymyositis and dermatomyositis in childhood].

Authors report clinical and laboratory findings, treatment and evolution of six girls and three boys aged between 20 months and 13 years, diagnosed of juvenile polymyositis-dermatomyositis in the last seven years. Presenting symptoms were asthenia and proximal muscle weakness; in 3 cases characteristic skin lesions were associated. All were treated initially with prednisone p.o. (1-2 mg/kg/day) response being favourable in seven. Two patients with chronic evolution were treated with methotrexate and IV bolus of methylprednisolone.

Adolescent↗
PubMed1982

[Osteosarcoma: 2d malignant tumor following treatment with radiotherapy].

The authors report a case of postirradiation osteosarcoma that appeared in a seven year old girl after having received radiation therapy for a soft tissue sarcoma. The latent period between the two malignancies was 5 and a half years and the apparently radiation-induced osteosarcoma developed within the radiation field of the primary tumor.

Bone Neoplasms↗
PubMed1981

[Tricuspid atresia with hypoplasia of aortic isthmus in absence of transposition of great vessels (author's transl)].

A case of tricuspid atresia with a concordant ventriculoarterial connection associated with hypoplasia of the aortic isthmus and malformation of left atrioventricular valve is presented. Hyoplasia of aortic isthmus in absence of transposition of great vessels was explained by a posterior deviation of infundibular septum that reduced subaortic outflow tract and created an ample bulboventricular orifice. In the left atrioventricular valve an anterolateral papillary muscle that was prolonged in a thick chorda tendineaee fused to ventricular face of the cusp up to its insertion in the atrioventricular ring was observed. A systolic murmur of high tonality compatible with regurgitation of the left atrioventricular valve and a notch that was registered in postmortem angiography were attributed to this anomalous chorda tendinea. In the posterior wall of the heart there were two descending coronary arteries. One descended fro the crux cordis; the other, to its right, adjacent ot the acute margin, followed the insertion of the trabecular septum, delimited the outlet chamber, and was anastomosed to the anterior descending coronary artery.

Aortic Coarctation↗