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Biomedical subjects

S Siddiq

Publications and source records attributed to S Siddiq.

3 recordsLinked to original sources

Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia.

OBJECTIVES: To assess the feasibility of detecting new cases of heterozygous familial hypercholesterolaemia by using a nurse led genetic register. DESIGN: Case finding among relatives of patients with familial hypercholesterolaemia. SETTING: Two lipid clinics in central and south Manchester. SUBJECTS: 259 (137 men and 122 women) probands and 285 first degree relatives. RESULTS: Of the 200 first degree relatives tested, 121 (60%) had inherited familial hypercholesterolaemia. The newly diagnosed patients were younger than the probands and were generally detected before they had clinically overt atherosclerosis. Concentrations of serum cholesterol were, respectively, 8.4 (1.7 SD) mmol/l and 8.1 (1.9 SD) mmol/l in affected men and women and 5.6 (1.0 SD) mmol/l and 5.6 (1.1 SD) mmol/l in unaffected men and women. Screening for risk factors as recommended in recent guidelines for coronary heart disease prevention would have failed to identify most of the affected relatives in whom hypertension, diabetes mellitus, cigarette smoking, and obesity were uncommon. CONCLUSIONS: By performing cholesterol tests on 200 relatives, 121 new patients with familial hypercholesterolaemia were discovered. Because 1 in 500 people in the United Kingdom are affected by this condition, to detect a similar number by population screening over 60 000 tests would be required, and only a few of these patients would have been detected had cholesterol testing been restricted to those with other risk factors for coronary heart disease. A case exists for organising a genetic register approach, linking lipid clinics nationally.

Adolescent↗

Endocarditis in an urban hospital in the 1990s.

OBJECTIVES: To analyze the clinical characteristics and outcome of 159 consecutive patients with endocarditis who presented to an inner-city hospital from 1990 onward and to elucidate the most current problems and advances in the management of endocarditis. METHODS: One hundred eighty-two consecutive cases (in 159 patients) met diagnostic criteria for endocarditis, including histopathologic evidence or multiple positive blood cultures without another primary source, and appropriate signs or symptoms. Transthoracic echocardiography was performed for 171 cases, and 36 patients underwent transesophageal echocardiography. RESULTS: Sixty-seven percent of the patients were known drug users; more than 80% of these were positive for human immunodeficiency virus. Fever, malaise, and fatigue occurred in more than 95%, but other signs were neither sensitive nor specific, and classic microvascular phenomena were uncommon. Blood cultures were positive in 96%, all 7 patients with negative cultures had received prior antibiotic therapy. Staphylococcus aureus was the most common organism, and a significant increase in S aureus infections was noted for tricuspid endocarditis (chi 2 = 71.07, P = .003). The mitral (n = 51) and tricuspid (n = 49) valves were the most common sites of infection. Underlying heart disease was only identified in one fourth of the cases. Transesophageal echocardiography identified vegetation in 34 of 36 studies, 16 of which had negative transthoracic echoes. Five of 6 patients with documented abscesses died within 7 months. A systemic embolism occurred in nearly a third (n = 51) of the cases. Large vegetations (> 20 mm) were significantly correlated with an increased frequency of embolization (chi 2 = 6.77, P = .009), but vegetation mobility was not. Cardiac surgery was performed in 24 patients; there were 2 perioperative deaths. CONCLUSIONS: The changing clinical spectrum of endocarditis exemplified in our series has important implications for diagnosis and management. Close attention to appropriate risk factors can contribute to optimal management of those factors and improve prognosis.

Adult↗