Acute Gallbladder Hydrops and Arthritis: unusual initial manifestations of Wilson's Disease (WD): Case Report.

Wilson disease (WD) is an autosomal recessive disorder, in which copper is deposited in the liver, brain, cornea and kidneys. The clinical presentation is variable, with fully expressed disease manifesting cirrhosis, neurologic damage and Kayser-Fleischer (K-F) ring on the cornea. A 24-year-old patient developed right upper quadrant pain with a palpable mass and a swelling of the right talocrural articulation. X-rays were uneventful, but the routine examination of hepatic enzymes discovered a 6-8 fold increase in SGPT, SGOT and AST. Antibodies for hepatitis B, C were normal, as well as the ANA, ANCA, antimytochondrial and anti-smooth muscle antibodies. Ultrasound of the abdomen revealed extremely dilated hepatic, cystic ducts as well as gallbladder. A large, oedematous gallbladder with yellow green bile was removed, the liver was found to be cirrhotic, but as the operative bleeding was abundant a biopsy was not done. Serum ceruloplasmin was low [0.160 g/l (normal 0.204-0.407)], serum copper 12.7 µmol/l (11.0-24.4), transaminasis: always very high, in the last months normal/slightly elevated. Urine copper: 1.0 µmol/24 h (>9.44). As first seen the proband had tremor, dysarthria, dystonia and K-F ring on the cornea. After 10 months of treatment with penicillamine his transaminases normalized, the tremor, dysarthria, dystonia initially got worse and then ameliorated. The coagulation times are ameliorated, but not yet normalized. Mutational analysis has shown that the proband is homozygote for c.3207 C->A, p.H1069Q while his parents are heterozygotes. His sister is a healthy non-carrier. In brief, we describe an unusual presentation of WD, with gallbladder hydrops and talocrural arthritis in a patient with complete clinical manifestations of the disease.

[Fever of unknown origin with granulomatous hepatitis, uveitis and acute renal failure]. / Fièvre d'origine indéterminée avec hépatite granulomateuse, uvéite et insuffisance rénale aiguë.

A 46-year-old man was referred to our hospital because of fever of unknown origin (FUO). Two months before admission, he noted fever, weight loss, and asthenia. Physical examination revealed only mechanical pains of the right shoulder. In the past, patient's father had a tuberculosis. At the age of 29 years, Brucella granulomatous hepatitis and B hepatitis were diagnosed. The past three years, he developed two episodes of uveitis which resolved with local treatment. The hepatic biopsy revealed only a non specific granulomatous hepatitis. Few days after admission, the patient developed acute renal failure without proteinuria or hematuria. The renal biopsy confirmed the presence of noncaseating granulomas. In the context of the patient, we diagnosed a sarcoidosis. All the symptoms resolved with the initiation of prednisone treatment. The FUO differential diagnosis, and the different aspects of renal sarcoidosis are discussed.

Intrapericardial urokinase irrigation and systemic corticosteroids: an alternative to pericardectomy for persistent fibrino-purulent pericarditis.

A 39-year-old man was admitted for upper abdominal pain and shortness of breath. The chest roentgenogram demonstrated cardiomegaly and left lower lobe atelectasis. Echocardiography showed circumferential pericardial effusion with signs of cardiac tamponade. Pericardial biopsy and fluid analysis were consistent with fibrino-purulent pericarditis. Despite broad-spectrum antibiotics, percutaneous and subsequently surgical drainage, pericardial effusion and tamponade recurred. We report successful treatment of a non-resolving fibrino-purulent pericardial effusion by combined intrapericardial irrigation of fibrinolytics and systemic corticosteroids administration as an alternative to pericardectomy.

[Endocarditis due to HACEK bacteria. A case report of endocarditis due to Kingella kingae]. / Les endocardites dues aux germes du groupe HACEK. A propos d'un cas d'endocardite native à Kingella kingae.

Endocarditis is a common disease in hospital practice. Identification of the microorganism responsible for the valvular damage is essential to establish the prognosis and to determine the optimal antibiotic treatment. In some cases of endocarditis the diagnosis is laborious, especially when the responsible microorganism is difficult to detect using standard culture techniques. Here we report a case of native aortic valve endocarditis due to Kingella kingae, a Gram negative organism of the HACEK group. In addition we review 6 other cases of endocarditis caused by organism belonging to this group, treated in our hospital between 1983 and 1999. Epidemiological studies show that less than 5% of all cases of endocarditis are caused by organisms of the HACEK group. The diagnosis is often delayed because their slow growth on a standard culture medium. We describe clinical and microbiological characteristics of this group of endocarditis.

[Epidemiology of cardiovascular diseases: role of ovarian hormones]. / Epidémiologie des maladies cardio-vasculaires: rôle des hormones ovariennes.

Cardiovascular diseases represent the major cause of mortality in industrialized countries, including Switzerland, and affect a large percentage of hospitalized patients and patients seen in outpatient clinics. Recently, a decline in the incidence of cardiovascular diseases has been observed, associated with a general improvement in prognosis. This has been attributed to progress achieved in the treatment of many cardiovascular diseases, and to a better identification and treatment of various risk factors. Differences in the clinical manifestations of cardiovascular diseases have been observed between men and women. Women seem to be protected until the time of menopause. In this review, various epidemiological aspects of cardiovascular diseases in men and women are discussed.

Intramedullary nailing in segmental tibial fractures.

Thirty-eight consecutive segmental fractures of the tibia were treated by intramedullary nailing with the Küntscher-Herzog nail. Twenty-two fractures were closed and sixteen were open. Reaming of the medullary cavity was performed and adequate fixation was ensured by use of a plaster cast. Weight-bearing was allowed after thirty-days for closed fractures and sixty days for open fractures. All of the closed fractures healed without malunion or infection. Of the patients with open fractures, one had an infection; one, non-union; and one, malunion. In all cases but one, union was slower at the distal fracture.