Search results for "Coure"

Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect

2019

Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…

Urinary tract infections in children: EAU/ESPU guidelines.

2015

Context: In 30% of children with urinary tract anomalies, urinary tract infection (UTI) can be the first sign. Failure to identify patients at risk can result in damage to the upper urinary tract.Objective: To provide recommendations for the diagnosis, treatment, and imaging of children presenting with UTI.Evidence acquisition: The recommendations were developed after a review of the literature and a search of PubMed and Embase. A consensus decision was adopted when evidence was low.Evidence synthesis: UTIs are classified according to site, episode, symptoms, and complicating factors. For acute treatment, site and severity are the most important. Urine sampling by suprapubic aspiration or c…

Angiotensin II, type 2 receptor in the development of vesico-ureteric reflux

2001

Objective To investigate if mutation of the angiotensin II (Ang II) receptors AT2 is involved in primary vesico-ureteric reflux (VUR) in humans. Patients and methods Genetic polymorphisms in the AT1 and AT2 receptors was evaluated in 23 patients having the most common congenital urological abnormality, namely primary congenital VUR. The occurrence of the A1166C transition in the AT1 receptor gene and the A-1332G transition in the AT2 receptor gene were evaluated and compared with the incidence in normal controls with no urological abnormalities. Result The distribution of the AT1 receptor genotypes was no different between patients with VUR and healthy controls. Furthermore, 10 of 23 (44%) …

ZnII and CuII-Based Coordination Polymers and Metal Organic Frameworks by the of Use of 2-Pyridyl Oximes and 1,3,5-Benzenetricarboxylic Acid

2021

The simultaneous use of 2-pyridyl oximes (pyridine-2 amidoxime, H2pyaox

FATTORI PROGNOSTICI NELL'EVOLUZIONE DEL REFLUSSO VESCICO-URETERALE IN ETA' PEDIATRICA

2002

Despite the large number of children with reflux, management among urologists is still controversial. One of the most debacted aspects is the choice between observation treatment or surgical treatment.

Correction of vesicoureteral reflux: where do we stand?

2004

Purpose of review Newer techniques of molecular biology allow us to gain a better understanding of the molecular mechanism of primary urinary reflux. In recent years, diagnostic tools and treatment options for vesicoureteric reflux have dramatically changed. In this review, we want to focus on genetics, molecular biology, histology, clinical findings, diagnostic tools and newer surgical techniques for the treatment of vesicoureteric reflux published between 2003 and March 2004. Recent findings Recent findings have demonstrated that the renin-angiotensin-aldosterone system does not seem to be responsible for the development of primary vesicoureteric reflux. Echo-enhanced ultrasound with cont…

Double Hydrodistention Implantation Technique (HIT) in the endoscopic treatment of vesicoureteral reflux

2020

The fate of implant after endoscopic injection of dextranomer/hyaluronic acid in vesicoureteral reflux: time to partial reabsorption and stabilization

2020

Summary Background/introduction Vesicoureteral reflux (VUR) potentially leads to renal damage, scarring, and eventually end-stage renal disease. Endoscopic treatment is well tolerated in children, it has reduced costs, and it effectively prevents urinary tract infections (UTIs), while avoiding long term antibiotics use. Objective With the aim to investigate the time needed to reach the stabilization of the dextranomer/hyaluronic acid (Dx/HA) implants and to identify cut-off heights to ensure the success of the procedure, the authors analyzed ultrasonographic (US) intra-operative appearance of the mounds following endoscopic treatment for VUR and repeated the measurements during serial posto…