Testicular infarction in the newborn: Ultrasound findings

Three patients with neonatal testicular torsion and infarction (two bilateral, one unilateral) are presented with a distinctive sonographic appearance. All five testes appeared inhomogeneously hypoechoic and each was surrounded by a brightly echogenic rim. Whereas surgical exploration was required in the past to establish the diagnosis of testicular infarction in the neonate, sonographic demonstration of the abnormality in the appearance of the testicular parenchyma permits nonoperative diagnosis. Because surgical salvage of the testis in the setting of neonatal extravaginal torsion is thought to be quite rare, the necessity of removing the testis is less clear when the diagnosis is established preoperatively.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/46692/1/247_2005_Article_BF02013166.pd

The RIVUR Voiding Cystourethrogram Pilot Study: Experience with Radiologic Reading Concordance

Published cohorts of children with vesicoureteral reflux placed on antibiotic prophylaxis differ in baseline characteristics and methodology. These data have been combined in meta-analyses to derive treatment recommendations. We analyzed these cohorts in an attempt to understand the disparate outcomes reported

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection. METHODS: We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present. We collected data on clinical features with the use of Human Phenotype Ontology terms, undertook genome sequencing, applied automated variant prioritization on the basis of applied virtual gene panels and phenotypes, and identified novel pathogenic variants through research analysis. RESULTS: Diagnostic yields varied among family structures and were highest in family trios (both parents and a proband) and families with larger pedigrees. Diagnostic yields were much higher for disorders likely to have a monogenic cause (35%) than for disorders likely to have a complex cause (11%). Diagnostic yields for intellectual disability, hearing disorders, and vision disorders ranged from 40 to 55%. We made genetic diagnoses in 25% of the probands. A total of 14% of the diagnoses were made by means of the combination of research and automated approaches, which was critical for cases in which we found etiologic noncoding, structural, and mitochondrial genome variants and coding variants poorly covered by exome sequencing. Cohortwide burden testing across 57,000 genomes enabled the discovery of three new disease genes and 19 new associations. Of the genetic diagnoses that we made, 25% had immediate ramifications for clinical decision making for the patients or their relatives. CONCLUSIONS: Our pilot study of genome sequencing in a national health care system showed an increase in diagnostic yield across a range of rare diseases. (Funded by the National Institute for Health Research and others.)