Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X

Context  Approximately 60% of families that meet the Amsterdam-I criteria (AC-I) for hereditary nonpolyposis colorectal cancer (HNPCC) have a hereditary abnormality in a DNA mismatch repair (MMR) gene. Cancer incidence in AC-I families with MMR gene mutations is reported to be very high, but cancer incidence for individuals in AC-I families with no evidence of an MMR defect is unknown. Objective  To determine if cancer risks in AC-I families with no apparent deficiency in DNA MMR are different from cancer risks in AC-I families with DNA MMR abnormalities. Design, Setting, and Participants  Identification (1997-2001) of 161 AC-I pedigrees from multiple population- and clinic-based sources in North America and Germany, with families grouped into those with (group A) or without (group B) MMR deficiency by tumor testing. A total of 3422 relatives were included in the analyses. Main Outcome Measures  Cancer incidence in groups A and B (excluding the 3 affected members used to define each pedigree as AC-I) and computed age- and sex-adjusted standardized incidence ratios (SIRs) using Surveillance, Epidemiology, and End Results data. Results  Group A families from both population- and clinic-based series showed increased incidence of the HNPCC-related cancers. Group B families showed increased incidence only for colorectal cancer (SIR, 2.3; 95% confidence interval, 1.7-3.0) and to a lesser extent than group A (SIR, 6.1; 95% confidence interval, 5.2-7.2) (P<.001). Conclusions  Families who fulfill AC-I criteria but who have no evidence of a DNA MMR defect do not share the same cancer incidence as families with HNPCC-Lynch syndrome (ie, hereditary MMR deficiency). Relatives in such families have a lower incidence of colorectal cancer than those in families with HNPCC-Lynch syndrome, and incidence may not be increased for other cancers. These families should not be described or counseled as having HNPCC-Lynch syndrome. To facilitate distinguishing these entities, the designation of "familial colorectal cancer type X" is suggested to describe this type of familial aggregation of colorectal cancer.      

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.     

Inflammatory pseudotumour of the lung

Inflammatory pseudotumours of the lungs have rarely been reported. These have been described as a benign entity of unknown origin and are often locally invasive requiring extensive pulmonary resection. We present a 12-year-old boy with fever and massive haemoptysis who was found to have a well defined left-sided paracardiac mass lesion on chest X-ray and CT scan thorax. A CT-guided fine needle aspiration cytology was reported as inflammatory pseudotumour. As a result of recurrent episodes of massive haemoptysis during admission the child underwent an emergency left posterolateral thoracotomy and excision of the mass along with a left pneumonectomy. The biopsy of the mass was conclusive. Postoperatively the child was ventilated over night and was extubated the next day. He has been doing well on follow-up. Based on our case report and on other similar reports it would appear that the primary treatment of inflammatory pseudotumors of the lung is surgical. Complete resection is the key to prevent recurrence and the prognosis is excellent following surgery.     

Mycetoma of the sole

We report a case of mycetoma of the sole of the foot in a 10-year-old caused by Nocardia brasiliensis. It was treated successfully with a combination of trimethoprim-sulfamethoxazole, dapsone and rifampicin.     

Regurgitant flow field characteristics of the St. Jude bileaflet mechanical heart valve under physiologic pulsatile flow using particle image velocimetry

The regurgitant flow fields of clinically used mechanical heart valves have been traditionally studied in vitro using flow visualization, ultrasound techniques, and laser Doppler velocimetry under steady and pulsatile flow. Detailed investigation of the forward and regurgitant flow fields of these valves can elucidate a valve's propensity for blood element damage, thrombus formation, or cavitation. Advances in particle image velocimetry (PIV) have allowed its use in the study of the flow fields of prosthetic valves. Unlike other flow field diagnostic systems, recent work using PIV has been able to relate particular regurgitant flow field characteristics of the Bjork-Shiley Monostrut valve to a propensity for cavitation. In this study, the regurgitant flow field of the St. Jude Medical bileaflet mechanical heart valve was assessed using PIV under physiologic pulsatile flow conditions. Data collected at selected time points prior to and after valve closure demonstrated the typical regurgitant jet flow patterns associated with the St. Jude valve, and indicated the formation of a strong regurgitant jet, in the B-datum plane, along with twin vortices near the leaflets. Estimated ensemble-average viscous shear rates suggested little potential for hemolysis when the hinge jets collided. However, the vortex motion near the occluder tips potentially provides a low-pressure environment for cavitation.     

Higher offspring birth weight predicts the metabolic syndrome in mothers but not fathers 8 years after delivery: the Pune Children's Study

In Europid populations, low birth weight of offspring predicts insulin resistance in the mother and cardiovascular disease in both parents. We investigated the association between birth weight of offspring and obesity and cardiovascular risk in the parents of 477 8-year-old children born at the King Edward Memorial Hospital, Pune, India. Eight years after the birth of the child, mothers (33 years of age, n = 459) of heavier babies were taller and more obese (BMI, fat mass, and waist circumference, all P < 0.001) than mothers of lighter babies. Increasing offspring birth weight predicted higher homeostasis model assessment for insulin resistance (P < 0.01) and metabolic syndrome in mothers (P < 0.001) (adjusted for offspring sex and birth order, maternal age, and socioeconomic status) but not hyperglycemia. Fathers (39 years of age, n = 398) of heavier babies were taller and heavier, independent of maternal size (P < 0.01, both), but were not more insulin resistant. Unlike other reports, lower offspring birth weight did not predict insulin resistance in fathers. Thus, urban Indian parents have a higher risk of being obese 8 years after delivery of a heavier child. Mothers but not fathers of heavier babies also have a higher risk of being insulin resistant and developing the metabolic syndrome. Our findings highlight the need for a better understanding of the relation between fetal growth and future health before contemplating public health interventions to improve fetal growth.