Catastrophic antiphospholipid antibody syndrome

Antiphospholipid antibody syndrome (APS) is characterized by recurrent thrombosis with the presence of circulating antiphospholipid antibodies. A diagnosis of APS requires the presence of at least one clinical and one laboratory criteria (detection of aCL IgG or IgM antibodies or the presence of lupus anticoagulant on two or more consecutive occasions 6 weeks apart). A severe, rapidly progressive form characterized by clinical involvement of at least three different organ systems with histopathological evidence of small and large vessel occlusion is termed catastrophic antiphospholipid syndrome. Early recognition of APS is crucial since aggressive management can result in a favorable outcome. We present the case of a 12-year-old boy who presented with a devastating illness with multiple thrombotic episodes and rapidly progressive renal failure.     

Short rib polydactyly syndrome—type I

Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities. The authors report a case of SRPS in a fresh stillborn baby who had these features along with dysplastic kidneys. Clinical and radiological findings in this baby were consistent with SRPS-Type I (Saldino-Noonan Type). The diagnosis of SRPS, as in this case, can be made by antenatal ultrasonography     

A prospective randomized comparison of type of nephrostomy drainage following percutaneous nephrostolithotomy: large bore versus small bore versus tubeless

PURPOSE: We compared postoperative outcomes among tubeless, conventional large bore nephrostomy drainage and small bore nephrostomy drainage following percutaneous nephrostolithotomy (PCNL) in a prospective randomized fashion. MATERIALS AND METHODS: Between January and June 2001, 30 patients undergoing PCNL were randomized to receive conventional large bore (20Fr) nephrostomy drainage (group 1, 10 patients), small bore (9Fr) nephrostomy drainage (group 2, 10 patients) or no nephrostomy drainage (group 3, 10 patients). Inclusion criteria included a single subcostal tract, uncomplicated procedure, normal preoperative renal function and complete stone clearance. Factors compared among the 3 groups were postoperative analgesia requirement, urinary extravasation, duration of hematuria, duration of urinary leak, decrease in hematocrit and hospital stay. RESULTS: The postoperative analgesic requirement was significantly higher in group 1 (217 mg) compared to groups 2 (140 mg, p <0.05) and 3 (87.5 mg, p <0.0001). Patients in group 3 had a significantly shorter duration (4.8 hours) of urinary leak through the percutaneous renal tract compared to patients in groups 1 (21.4 hours, p <0.05) and 2 (13.2 hours, p <0.05). Hospital stay was significantly shorter in group 3 (3.4 days) compared to groups 1 (4.4 days, p <0.05) and 2 (4.3 days, p <0.05). All 3 groups were similar in terms of operative time, duration of hematuria and decrease in hematocrit. Postoperative ultrasound did not reveal significant urinary extravasation in any case. CONCLUSIONS: Tubeless PCNL is associated with the least postoperative pain, urinary leakage and hospital stay. Small bore nephrostomy drainage may be a reasonable option in patients in whom the incidence of stent dysuria is likely to be higher.     

Growth rate of non-vestibular intracranial schwannomas

A group of nine patients with non-vestibular intracranial neuromas (four jugular, four facial, one trigeminal) underwent an interval scanning management policy, with serial annual magnetic resonance (MR) imaging. Tumour volume was assessed by manual measurement of the tumour area by MR imaging. Tumour volume was assessed by manual measurement of the tumour area on MR imaging axial cuts. The mean tumour size at presentation was 4.6 cm(3) (range 0.7-17.8 cm(3)). During a mean follow-up of 36 months (range 22-50 months), five out of nine tumours grew significantly at a rate of more than 5% of their initial volume per year. Only those tumours growing at a rate of more than 20% initial volume per year exhibited symptom progression. During a 36-month period of interval scanning, just over 50% of non-vestibular intracranial neuromas exhibited significant growth. Symptom progression was found to be a strong indicator of a high growth rate. This proportion exhibiting growth is higher than that demonstrated by unilateral sporadic vestibular schwannomas, but less than in patients with neurofibromatosis II. Early treatment of non-vestibular intracranial neuromas should therefore be considered.     

Genetic signatures of high- and low-risk aberrant crypt foci in a mouse model of sporadic colon cancer

To determine whether cancer risk is related to histopathological features of preneoplastic aberrant crypt foci (ACF), gene expression analysis was performed on ACF from two mouse strains with differing tumor sensitivity to the colonotropic carcinogen, azoxymethane. ACF from sensitive A/J mice were considered at high risk, whereas ACF from resistant AKR/J mice were considered at low risk for tumorigenesis. A/J and AKR/J mice received weekly injections of azoxymethane (10 mg/kg body weight), and frozen colon sections were prepared 6 weeks later. Immunohistochemistry was performed using biomarkers associated with colon cancer, including adenomatous polyposis coli, beta-catenin, p53, c-myc, cyclin D1, and proliferating cell nuclear antigen. Hyperplastic ACF, dysplastic ACF, microadenomas, adjacent normal-appearing epithelium, and vehicle-treated colons were laser captured, and RNA was linearly amplified (LCM-LA) and subjected to cDNA microarray-based expression analysis. Patterns of gene expression were identified using adaptive centroid algorithm. ACF from low- and high-risk colons were not discriminated by immunohistochemistry, with the exception of membrane staining of beta-catenin. To develop genetic signatures that predict cancer risk, LCM-LA RNA from ACF was hybridized to cDNA arrays. Of 4896 interrogated genes, 220 clustered into six broad clusters. A total of 226 and 202 genes was consistently altered in lesions from A/J and AKR/J mice, respectively. Although many alterations were common to both strains, expression profiles stratified high- and low- risk lesions. These data demonstrate that ACF with distinct tumorigenic potential have distinguishing molecular features. In addition to providing insight into colon cancer promotion, our data identify potential biomarkers for determining colon cancer risk in humans.