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R Alonso Estellés

Publications and source records attributed to R Alonso Estellés.

5 recordsLinked to original sources
PubMed2004

[Skeletal manifestations of Gauchers disease. A report of two cases].

Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of substrate in the interior of the macrophage lysosomes. It is classified in three types, according to the presence of central nervous system involvement (type 2 and 3) or not (type 1). It is a multisystemic disease and in the majority of patients there is hepatosplenomegaly, anemia and thrombocytopenia. Skeletal involvement is also important and it is frequently the most disabling manifestation. We present two cases of Gauchers with skeletal manifestations and we review the literature.

Adult↗
PubMed2001

[Rendu-Osler-Weber disease. Descriptive study of 17 cases].

OBJECTIVE: To study the prevalence and presentation forms of hereditary hemorrhagic telangiectasia (HHT) among the population in our hospital area. MATERIALS AND METHODS: Descriptive, retrospective study of patients with the diagnosis of HHT from to 1999 at La Fe Hospital, Valencia. Family history, repeated epistaxis, mucocutaneous telangiectasis and visceral lesions, as well as administered treatments, and clinical course were evaluated. RESULTS: Seventeen patients were diagnosed during such time period, with ages ranging from 23 to 80 years. Eight patients had family histories. The most common symptoms included epistaxis and iron-deficiency anemia, followed by muco-cutaneous telangiectasis. Six patients had neurological, five pulmonary, five gastrointestinal, and three hepatic manifestations, usually secondary to vascular malformations at those levels. CONCLUSIONS: The prevalence of the disease maybe higher than previously reported. This disease should be considered in patients with repeated epistaxis and/or iron-deficiency anemia. The presence of telangiectasis that can suggest the diagnosis should be investigated. An early diagnosis of HHT can be useful for the early control of associated visceral malformations. Treatment of HHT should be tailored according to the clinical manifestations of the patient.

Adult↗
PubMed2001

[Adult celiac disease: study of 21 cases and review of the bibliography].

Celiac sprue is a chronic disease characterized by a typical lesion in the small intestine and nutrient malabsorption that improves on withdrawal of dietary gluten. Adult celiac disease (or gluten enteropathy) is a common and under-diagnosed disease since presentation varies among a) symptomatic or clinically active forms (including mono- or oligosymptomatic forms), b) asymptomatic, subclinical or silent forms, and c) latent forms. We present a descriptive study of a retrospective series of patients diagnosed with symptomatic or clinically active adult celiac disease who required hospitalization between January 1993 and June 2000. The form of symptomatic expression, biological alterations, investigations that confirm the diagnosis, associated diseases, complications and response to treatment are described.

Adolescent↗
PubMed1999

[Association of multiple myeloma and solid neoplasms: analysis of 13 cases].

BACKGROUND: The diagnosis of second malignancies in patients with multiple myeloma is uncommon. It is debatable whether this tumor is in itself a risk factor for the incidence of second malignancies. Etiopathogenic factors which might account for this association were analyzed. MATERIALS AND METHODS: Retrospective analysis of a series of 210 patients with myeloma controlled by a Medical Oncology Department from 1984 to 1998. After searching for the diagnosis of a second malignancy, thirteen patients were identified with both diagnoses. A descriptive statistical study was elaborated as well as an analysis of survival. RESULTS: There were seven males and six females, with a mean age at diagnosis of 69 years (57-80). The Durie-Salmon stages at diagnosis were: I-A (3), I-B (1), II-A (4), III-A (4). Associated solid malignancies included: hepatocarcinoma (2), prostate adenocarcinoma (2), soft tissue sarcoma (2), lung adenocarcinoma (1), cholangiocarcinoma (1), breast carcinoma (1), endometrial carcinoma (2) and bladder carcinoma (1). At diagnosis, seven of the solid malignancies were metastatic. At the time of this analysis, eleven patients had died, eight because of progression of the solid cancer, two because of progression of myeloma and one because of therapy toxicity. Two patients are still alive with stability of the myeloma and solid malignancy controlled after surgical resection. CONCLUSIONS: The association was observed in 6.2% of patients with myeloma and occurs at an advanced age. IgG myelomas and in early stages predominated. Solid malignancies were diagnosed in advanced stages in most cases. A short term high mortality rate was observed due to progression of the solid malignancy. The frequency of the association did not seem to be higher than the overall incidence of second malignancies in patients with cancer.

Adenocarcinoma↗