Unified criteria for ultrasonographic diagnosis of ADPKD.

Individuals who are at risk for autosomal dominant polycystic kidney disease are often screened by ultrasound using diagnostic criteria derived from individuals with mutations in PKD1. Families with mutations in PKD2 typically have less severe disease, suggesting a potential need for different diagnostic criteria. In this study, 577 and 371 at-risk individuals from 58 PKD1 and 39 PKD2 families, respectively, were assessed by renal ultrasound and molecular genotyping. Using sensitivity data derived from genetically affected individuals and specificity data derived from genetically unaffected individuals, various diagnostic criteria were compared. In addition, data sets were created to simulate the PKD1 and PKD2 case mix expected in practice to evaluate the performance of diagnostic criteria for families of unknown genotype. The diagnostic criteria currently in use performed suboptimally for individuals with mutations in PKD2 as a result of reduced test sensitivity. In families of unknown genotype, the presence of three or more (unilateral or bilateral) renal cysts is sufficient for establishing the diagnosis in individuals aged 15 to 39 y, two or more cysts in each kidney is sufficient for individuals aged 40 to 59 y, and four or more cysts in each kidney is required for individuals > or = 60 yr. Conversely, fewer than two renal cysts in at-risk individuals aged > or = 40 yr is sufficient to exclude the disease. These unified diagnostic criteria will be useful for testing individuals who are at risk for autosomal dominant polycystic kidney disease in the usual clinical setting in which molecular genotyping is seldom performed.

Antibiotic availability and the prevalence of pediatric pneumonia during a physicians' strike.

BACKGROUND: Antibiotics are widely believed to be overpre-scribed for pediatric respiratory infections, yet there are few data available on the effect of a sudden decrease in antibiotic availability on pediatric infectious disease. OBJECTIVE: To determine whether the prevalence of radiographically diagnosed pneumonia changed over a period of decreased physician access and decreased antibiotic availability. DESIGN: A retrospective study was performed which reviewed the number of pediatric respiratory antibiotic prescriptions over a period which included a physicians' strike. The study examined whether antibiotic availability had been affected by the strike. Pediatric chest radiograph reports were reviewed for the same period to determine whether changes in antibiotic availability had affected the prevalence of radiographically diagnosable pneumonias among children presenting to a pediatric emergency room. RESULTS: While prescriptions for antibiotics fell by a minimum estimate of 28% during the strike, there was no change in the frequency of radiographic diagnoses of pneumonia. CONCLUSIONS: Respiratory antibiotics appear to be available in the community in excess of the amount required to control pneumonia. A 28% decrease in antibiotic availability did not result in a significant increase in respiratory disease.

Detection rates in pediatric diagnostic imaging: A picture archive and communication system compared with a web-based imaging system.

OBJECTIVE: This prospective study assesses whether there are differences in accuracy of interpretation of diagnostic images among users of a picture archive and communication system (PACS) diagnostic workstation, compared with a less costly Web-based imaging system on a personal computer (PC) with a high-resolution monitor. METHODS: One hundred consecutive pediatric chest or abdomen and skeletal X-rays were selected from hospital inpatient and outpatient studies over a 5-month interval. They were classified as normal (n = 32), obviously abnormal (n = 33), or having subtle abnormal findings (n = 35) by 2 senior radiologists who reached a consensus for each individual case. Subsequently, 5 raters with varying degrees of experience independently viewed and interpreted the cases as normal or abnormal. Raters viewed each image 1 month apart on a PACS and on the Web-based PC imaging system. McNemar tests were used to compare accuracy of interpretation across both imaging systems. Confidence intervals (CIs) were calculated for differences in the proportion assessed incorrectly on the PACS, compared with the Web-based PC imaging system. RESULTS: There was no relation between accuracy of detection and the system used to evaluate X-ray images (P = 0.92). The total percentage of incorrect interpretations on the Web-based PC imaging system was 23.2%, compared with 23.6% on the PACS (P = 0.92). For all raters combined, the overall difference in proportion assessed incorrectly on the PACS, compared with the PC system, was not significant at 0.4% (95%CI, -3.5% to 4.3%). CONCLUSION: The high-resolution Web-based imaging system via PC is an adequate alternative to a PACS clinical workstation. Accordingly, the provision of a more extensive network of workstations throughout the hospital setting could have potentially significant cost savings.

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to describe the epidemiology of BBS and LMS, further define the phenotype, and examine genotype-phenotype correlation. The study involved 46 patients (26 males, 20 females) from 26 families, with a median age of 44 years (range 1-68 years). Assessments were performed in 1986, 1993, and 2001 and included neurological assessments, anthropometric measurements, and clinical photographs to assess dysmorphic features. The phenotype was highly variable within and between families. Impaired co-ordination and ataxia occurred in 86% (18/21). Thirty percent (14/46) met criteria for psychiatric illness; other medical problems included cholecystectomy in 37% (17/46) and asthma in 28% (13/46). Dysmorphic features included brachycephaly, large ears, and short, narrow palpebral fissures. There was no apparent correlation of clinical or dysmorphic features with genotype. Two patients were diagnosed clinically as LMS but both had mutations in a BBS gene. The features in this population do not support the notion that BBS and LMS are distinct. The lack of a genotype-phenotype correlation implies that BBS proteins interact and are necessary for the development of many organs.

Rupture of middle cerebral artery aneurysm in a neonate: case report and review of the literature.

Intracranial hemorrhage because of rupture of a cerebral aneurysm is extremely rare in the neonatal period. Delayed diagnosis contributes to high mortality and morbidity. The authors report an extremely rare case of a middle cerebral artery aneurysm diagnosed and treated shortly after birth. Extensive review of the literature is presented. The patient died 4 years after surgery.