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B Weil Lara

Publications and source records attributed to B Weil Lara.

4 recordsLinked to original sources
PubMed2002

[Nijmegen breakage syndrome associated with pulmonary lymphoma].

Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, "bird-like" facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence of chromosome instability due to anomalies in the repair of double-stranded DNA breaks.We present a 6-year-old boy with Nijmegen breakage syndrome, who developed a large B-cell non-Hodgkin's lymphoma, localized in the lung without nodal involvement.

Cell Cycle Proteins↗
PubMed1997

[Massive tumorous pulmonary embolism in hepatocarcinoma].

Tumoral pulmonary embolism is among the causes of acute dyspnea in patients with neoplasia. This phenomenon, different to thrombotic embolism, occurs frequently in patients with lung, gastrointestinal, liver, breast and uterus neoplasia. It is usually asymptomatic and usually constitutes an autopsy finding in these patients. More rarely it manifests as a cor pulmonale which evolves subacutely. Exceptionally large tumoral emboli spread from a primary tumoral mass, and obstruct main pulmonary arterial vessels, causing a clinical picture indistinguishable from massive pulmonary thromboembolism. We present case of massive tumoral pulmonary embolism by an hepatocarcinoma. In spite of an early thrombolytic treatment the patient died from acute pulmonary hypertension.

Autopsy↗
PubMed1997

[Unilateral neonatal cystic disease of the kidney as first manifestation of tuberous sclerosis].

OBJECTIVE: To report a case of unilateral cystic disease in a neonatal kidney as the first manifestation of tuberous sclerosis, with special reference to the diagnostic difficulties. METHODS: The pathological and clinical features of unilateral cystic kidney disease, which was basically segmental, are described. This condition had been detected in a newborn at physical examination. RESULTS: The pathological findings of the kidney cysts were characteristic of tuberous sclerosis, which allowed us to rule out a renal tumor. The clinical course confirmed the histological diagnosis. CONCLUSIONS: The reported cases of bilateral cystic kidney disease as the first manifestation of tuberous sclerosis are few and only one case with unilateral involvement has been reported in the English literature. In the case described herein, biopsy proved to be very useful in the diagnosis of the disease since the kidney cysts had specific histological features.

Humans↗