Polymorphisms in IL-10 and INF-γ genes are associated with early atherosclerosis in coronary but not in carotid arteries: A study of 122 autopsy cases of young adults.

Atherosclerosis is a complex disease, involving both genetic and environmental factors. However, the influence of genetic variations on its early development remains unclear. This study examined the association of 12 different polymorphisms with atherosclerosis severity in anterior descending coronary (DA, n = 103) and carotid arteries (CA, n = 66) of autopsied young adults (< 30 years old). Histological sections (H-E) were classified according to the American Heart Association. Polymorphisms in ACE, TNF-α (- 308G/A and - 238 G/A), IFN-γ (+ 874 A/T), MMP-9 (- 1562 C/T), IL-10 (- 1082 A/G and - 819 C/T), NOS3 (894 G/T), ApoA1 (rs964184), ApoE (E2E3E4 isoforms), and TGF-ß (codons 25 and 10) genes were genotyped by gel electrophoresis or automatic DNA sequencing. Firearm projectile or car accident was the main cause of death, and no information about classical risk factors was available. Histological analysis showed high prevalence of type III atherosclerotic lesions in both DA (69%) and CA (39%) arteries, while severe type IV and V lesions were observed in 14% (DA) and 33% (CA). Allele frequencies and genotype distributions were determined. Among the polymorphisms studied, IFN-γ and IL-10 (- 1082 A/G) were related to atherosclerosis severity in DA artery. No association between genotypes and lesion severity was found in CA. In conclusion, we observed that the high prevalence of early atherosclerosis in young adults is associated with IFN-γ (p < 0.001) and IL-10 (p = 0.013) genotypes. This association is blood vessel dependent. Our findings suggest that the vascular system presents site specialization, and specific genetic variations may provide future biomarkers for early disease identification.

Orbital involvement in sickle cell disease: a report of five cases and review literature.

PURPOSE: To present five cases of orbital infarction in sickle cell disease and review relevant literature. METHOD: We reviewed the hospital records of 5 patients with sickle cell disease who developed a periorbital swelling during a vaso-occlusive crisis and were managed at our hospital between April 1992 and June 2000. RESULTS: The 5 patients (4 with homozygous sickle cell disease and 1 with sickle cell-beta-thalassaemia disease) were aged 6-15 years with a history of multiple admissions for vaso-occlusive crises. The periorbital swelling spread to the orbit in 4 cases and resulted in proptosis (2 cases), restriction of ocular motility and visual impairment. In all 4 cases, computed tomography and/or magnetic resonance imaging of the orbits showed a mass adjacent to the orbital wall. In 2 cases the mass was identified as a haematoma. Orbital wall infarction was demonstrated in 3 cases by bone/bone marrow scintigraphy. Epidural haematomas were detected by computed tomography in one case. All patients received intravenous fluids, analgesics, broad spectrum antibiotics and steroids, as well as simple or exchange transfusion, and responded well to medical management. CONCLUSIONS: Infarction of orbital bones during vaso-occlusive crises in sickle cell disease presents acutely with a rapidly progressive periorbital swelling. Haematomas frequently complicate the condition and, along with the inflammatory swelling, may lead to orbital compression syndrome. The condition is therefore sight-threatening, and necessitates prompt diagnosis and appropriate management for resolution without adverse sequelae. Imaging techniques are invaluable in the evaluation of patients. The majority of cases resolve with conservative treatment that includes steps to combat the vaso-occlusive crisis and use of systemic steroids under antibiotic cover.

A prospective study of soft-tissue ultrasonography in sickle cell disease patients with suspected osteomyelitis.

AIM: A prospective study was done to assess the accuracy of soft tissue ultrasonography in patients with sickle cell disease (SCD) presenting with suspected osteomyelitis. MATERIALS AND METHODS: Thirty-one SCD patients had soft tissue ultrasonography on 38 occasions (18 men, 13 women; mean age 8.2 years). The initial ultrasonographic signs and diagnosis were compared with the final clinical diagnosis, which was based on clinical progress and scintigraphy. RESULT: The overall sensitivity of ultrasound in diagnosing osteomyelitis was 74% with a specificity of 63%. The principal ultrasonographic finding of subperiosteal fluid was present in 14 (74%) patients with osteomyelitis and seven (37%) patients without infection. A finding of a subperiosteal fluid depth of 4 mm or more was significantly associated with osteomyelitis (P < 0.01). CONCLUSION: Ultrasonography should be the initial investigation in SCD patients if osteomyelitis is suspected clinically. In such a clinical setting, a finding of 4 mm depth or more of subperiosteal fluid appears to be diagnostic. Previous statements that the presence of any subperiosteal fluid indicates infection are shown to be inaccurate. Patients with less than 4 mm of subperiosteal fluid require further imaging or aspiration to establish the diagnosis of osteomyelitis.

Thoracic ectopic kidney in an adult.

We are presenting an adult patient with a rare form of renal ectopy. Our patient had a thoracic kidney with complications. He presented with symptoms unrelated to the urinary system and his chest x-ray showed an intrathoracic mass presenting just above the diaphragm. An excretory urogram may be necessary for the diagnosis in such patients with similar chest x-ray findings.

Colonic sonography: preliminary observations.

Transrectal instillation of water is a recently described technique for improved sonological imaging of the lumen and wall of the colon. In order to assess the accuracy of this technique, termed colonic sonography (CS), in the detection of abnormalities of the large bowel, 100 consecutive patients were subjected to colonic sonography and the results were compared with the results of colonoscopy and surgery. The technique showed a sensitivity of 91% for the detection of colonic tuberculosis, 89% for ulcerative colitis and 83% for colonic cancers. Small mucosal ulcers, polyps less than 7 mm in diameter and the changes of non-specific colitis were not detected. Sonography displayed the entire colon more consistently than colonoscopy. The extent and extra-colonic spread of disease were better appreciated. The procedure was not adversely influenced by the presence of faecal material within the colon and was well tolerated. Colonic sonography is a promising new technique for detecting significant colonic pathology and merits further comparison with existing modalities.

Pedunculated colonic polyp diagnosed by colonic sonography.

A solitary hamartomatous polyp of the colon in a four year old boy was diagnosed by colonic sonography while barium enema and colonoscopy were non-diagnostic. Colonic sonography provides an additional simple, relatively non-invasive modality for evaluation of the colon.

Haemorrhagic pseudocyst of the adrenal in an adult (a case report).

An adult female patient presenting with a cystic abdominal mass and intermittent fever, was found at surgery to have a large cyst of the left adrenal gland. The imaging findings and pathology of this uncommon entity are discussed.