PubMed Health⌕ Search

Biomedical subjects

Brigitte Granel

Publications and source records attributed to Brigitte Granel.

23 records · Page 2Linked to original sources
PubMed2002

A family with gastrointestinal amyloidosis associated with variant lysozyme.

Hereditary nonneuropathic systemic lysozyme amyloidosis is a very rare form of amyloidosis, and only 4 families with this condition have been detailed until now in the literature. Clinical manifestations of lysozyme amyloidosis observed until now mainly concerned the kidneys, liver, and digestive tract. We report here a new family with hereditary lysozyme amyloidosis who presented predominantly with gastrointestinal involvement. The proband, a middle-aged woman, underwent partial gastrectomy for a hemorrhagic "gastric peptic ulcer" in 1984. Gastrointestinal amyloidosis was diagnosed in 1998 on biopsies performed on the gastroduodenal anastomosis, which appeared to be very congestive at presentation. Immunohistochemical stainings in tissue sections were positive for lysozyme. Amyloid was also observed in the colonic mucosa. The patient had a mutation in the lysozyme gene characterized by substitution of the amino acid at position 64 in the mature protein from tryptophan to arginine, previously described in only 1 French family with prominent nephropathy. It is interesting to note that her father had died many years before with an uncharacterized digestive amyloidosis. Our observation shows that a search for gastrointestinal amyloidosis is important, particularly when physicians are faced with congestive mucosa, unexplained abdominal hemorrhage, or abdominal symptoms. When gastrointestinal amyloidosis is diagnosed, it is important to determine with precision the nature of the amyloid fibril proteins, because various types of amyloidosis can involve the gastrointestinal tract.

Amyloidosis↗
PubMed2002

Periaortitis heralding Wegener's granulomatosis.

We describe a 47-year-old man who successively presented atheromatous coronary artery disease, cholesterol embolism after angioplasty, periaortitis with presence of c-ANCA, and finally typical pulmonary lesions caused by Wegener's granulomatosis. This case illustrates the link between atheromatous and inflammatory process and emphasizes that periaortitis may be a feature of Wegener's granulomatosis.

Antibodies, Antineutrophil Cytoplasmic↗
PubMedDate not supplied

Bilateral iliac vein thrombosis after seat belt-related trauma revealing hypoplasia of the inferior vena cava--a case report.

Hypoplasia of the inferior vena cava can be revealed by a deep venous thrombosis of the lower limbs. Associated precipitating factors or clotting defects leading to thrombosis are frequently observed. A case of bilateral iliac veins thrombosis occurring after a motor vehicle accident with seat belt injury is reported, revealing hypoplasia of the inferior vena cava. This young man was totally asymptomatic up to the crash, and did not have coagulation abnormalities. The patient had a very good outcome after anticoagulant treatment with complete regression of venous thromboses. Hypoplasia of the inferior vena cava was a predisposing anatomic abnormality that led to thrombosis, but seat belt trauma was probably the precipitating factor. This observation should be kept in mind in the evaluation of a deep venous lower limb thrombosis.

Accidents, Traffic↗