No abstract

In patients with treatment refractory OAB, SEP is an important tool for the screening of tethered cord/spinal pathologies. Our results suggest that a child with a normal SEP study in this group of patients may not require further investigation with MRI.

This study found that abnormal voiding parameters are present in patients with constipation even if LUTS are not present. Therefore, it is important that all patients presenting with constipation have their voiding function evaluated.

Foreign body ingestion is a common problem in children. Most of these foreign bodies spontaneously pass through the gastrointestinal tract. When there is a persistent foreign body in the abdomen, it is impossible to make a diagnosis without exploration. We herein present the case of a child who was admitted to our hospital with a coin trapped in Meckel's diverticulum and our laparoscopic approach in this case. The diagnosis of Meckel's diverticulum should be considered when there is a prolonged lodgment of a foreign body in the right lower quadrant, and the laparoscopic approach is the preferred choice in these cases.

Congenital anomalies of the kidney and urinary tract (CAKUT) is the leading cause of chronic kidney disease in the first three decades of life. Until now, more than 180 monogenic causes of isolated or syndromic CAKUT have been described. In addition, copy number variants (CNV) have also been implicated, however, all of these causative factors only explain a small fraction of patients with CAKUT, suggesting that additional yet‐to‐be‐discovered novel genes are present. Herein, we report three siblings (two of them are monozygotic twin) of a consanguineous family with CAKUT. Whole‐exome sequencing identified a homozygous variant in TBC1D31. Three dimensional protein modeling as well as molecular dynamics simulations predicted it as pathogenic. We therefore showed for the first time an association between a homozygous TBC1D31 variant with CAKUT in humans, expanding its genetic spectrum.