A unique presentation and rare pathological finding for urachal sinus

We report an otherwise well developing 2-year-old girl who presented with a urachal sinus with its opening located at the midline between umbilicus and the pubic symphysis. Diagnosis was made by ultrasound preoperatively, and confirmed during surgery. Additionally, columnar epithelium was found in the portion of sinus tract traversing the abdominal wall. Metaplasia of the sinus tract is worrisome, as urachal carcinomas have been traditionally characterized to result from this process.     

Gemcitabine,paclitaxel, and oxaliplatin (GEMPOX) in the treatment of relapsed/refractory intracranial nongerminomatous germ cell tumors

Intracranial germ cell tumors (GCT) account for less than 5% of all central nervous system tumors in children in Western countries. Approximately 40% are nongerminomatous GCT (NGGCT). Despite correct treatment, 16% to 47% of the patients will relapse. There are no standard approaches in case of recurrence, and treatment in this situation remains a challenge. We report three patients diagnosed with relapsed intracranial NGGCT treated with gemcitabine, paclitaxel, and oxaliplatin, in whom the tumor showed a remarkable response with normalization of tumor markers.     

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia

Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. Chromosome 22q11.2 microdeletion is associated with DiGeorge and Velocardiofacial syndromes (DG/VCF) and provides the most convincing evidence of an association between molecular cytogenetic abnormality and schizophrenia. In addition, this region is one of the best replicated linkage findings for schizophrenia. Recently, the reciprocal microduplication on 22q11.2 has been reported as a new syndrome. Preliminary data indicates that individuals with these duplications also suffer from neuropsychiatric disorders. In this study we have investigated the appropriateness of testing schizophrenia patients for the 22q11.2 microduplication. We used multiplex ligation-dependent probe amplification (MLPA) to measure copy number changes on the 22q11.2 region in a sample of 190 patients with schizophrenia. Our results corroborate the prevalence of the 22q11.2 microdeletion in patients with schizophrenia and clinical features of DG/VCFS and do not suggest an association between 22q11.2 microduplication and schizophrenia.     

Non-invasive evaluation of bilateral renal regional blood flow and tubular dynamics during acute unilateral ureteral obstruction.

BACKGROUND: Global renal haemodynamic responses to acute unilateral ureteral obstruction (AUUO) have been studied extensively in animals, yet little is known about the concurrent changes in haemodynamics and tubular fluid dynamics that occur within the distinct regions of the kidney during AUUO. The advent of electron beam computerized tomography (EBCT) now allows us to evaluate non-invasively intrarenal haemodynamics and tubular fluid dynamics in vivo. METHODS: Using EBCT, we quantified total, cortical and medullary renal blood flow (RBF, C-RBF and M-RBF), and the concurrent intratubular fluid contrast concentration (ITCC) from contrast media dilution curves, prior to, and at 30 and 90 min after the onset of AUUO in five pigs. RESULTS: At 30 min after AUUO, there was a small 17+/-7% fall in C-RBF that did not quite reach significance (P = 0.076), whereas RBF, M-RBF, glomerular filtration rate (GFR) and ITCC were preserved. At 90 min, both C-RBF and RBF had fallen by 54+/-8 and 45+/-5%, respectively (P<0.05). GFR also tended to decrease (by 49+/-8%, P<0.06), whereas there was preservation of M-RBF. ITCC increased in the proximal and distal tubules, and tended to increase in Henle's loop. In the contralateral kidney, AUUO did not alter the haemodynamics, but transiently decreased ITCC in all tubular segments. CONCLUSION: EBCT allows evaluation of AUUO-induced changes in intrarenal haemodynamics and tubular fluid dynamics. AUUO decreased cortical, but not medullary perfusion of the ipsilateral kidney, and increased the ITCC in most tubular segments, suggesting increased tubular reabsorption that may have helped maintain GFR and tubular fluid flow.