Renal amyloidosis in a patient with X-linked agammaglobulinemia (Bruton's disease) and bronchiectasis.

Purpose: We present a patient with Bruton's disease and bronchiectasis who developed renal AA amyloidosis.

Case Report: A 38 year-old man was diagnosed with X-linked agammaglobulinemia (Bruton's disease) when he was 3 years old, and he has been treated with parenteral immunoglobulin since then. Eighteen years later, he was diagnosed with central pulmonary bronchiectasis by computerized tomography (CT).

Celiac disease and HLA-DQ genotype: diagnosis of different genetic risk profiles related to the age in Badajoz, southwestern Spain.

Background And Objectives: celiac disease is associated with the HLA class II alleles: DQA1*05-DQB1*02 and DQB1*0302. The genetic risk for celiac disease may depend on the presence or absence of such alleles, their combination or number of copies. This study aimed to establish the differences in HLA genotypes between celiac patients diagnosed during childhood and adulthood, and between patients and healthy controls, and to determine the risk of disease in each genotypic category.

[Anorectal manometry in the neonatal diagnosis of Hirschsprung's disease].

Objective: To determine the usefulness of anorectal manometry (AM) in neonatal screening for Hirschsprung's disease (HD).

Material And Methods: We review the anomanometric studies of 98 newborn (63 males and 35 females) with clinical suspicion of HD, noting the indications of AM, gestational age, weight, age in days at the test, and whether or not other diagnostic methods were performed. Studied at rest were the pressures (mmHg) in the rectal ampulla (RA), proximal anal canal (PAC), and distal anal canal (DAC), and, in the stimulation phase, the presence or absence of a recto-anal inhibitory reflex (RAIR).

[Serological and genetic markers in the diagnosis and follow-up of coeliac disease].

Introduction: Understanding of celiac disease has changed with the advent of serological markers (antigliadin IgA, anti-endomysial IgA and anti-transglutaminase IgA antibodies) and with the identification of major susceptibility genes (HLA-DQA1*05-DQB1*02). Reports of the efficacy of these diagnostic tests have varied, depending on the methodology used and the population investigated.

Objectives: To determine the clinical utility of genetic and serological markers in the diagnosis of celiac disease, their relationship with histological lesions and their changes during treatment, in order to establish an optimal diagnostic algorithm in our environment.

Hydatid cyst in soft tissues mimicking malignant tumors. Diagnosis by fine needle aspiration cytology.

Objective: To evaluate the role of fine needle aspiration cytology in the diagnosis of soft tissue hydatid cysts.

Study Design: Five cases of soft tissue hydatid cyst were diagnosed primarily by fine needle aspiration cytology.

Results: In all cases, large fragments of acellular material, finely lamellated, were found.

[Bladder transitional cell carcinoma with metastasis to the maxillary sinus as first symptom].

Maxillary sinus metastasis are very uncommon tumors (fifty have been reported). The most frequent ones are renal adenocarcinoma, breast and lung tumors. Up to now there is only a reported case of bladder carcinoma in maxillary sinus.

[Epididymal malacoplakia in a heart transplant recipient: clinico-pathologic study of a case].

Objectives: An unusual case of malacoplakia is described and the literature reviewed.

Methods/results: We report on a patient on immunosuppression due to heart transplantation who developed malacoplakia of the epididymis. Patient history and treatment are discussed, with special reference to the differential diagnosis between this condition and tumors.