DRD1 and DRD2 Receptor Polymorphisms: Genetic Neuromodulation of the Dopaminergic System as a Risk Factor for ASD, ADHD and ASD/ADHD Overlap.

The dopaminergic system (DS) is one of the most important neuromodulator systems involved in complex functions that are compromised in both autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD), conditions that frequently occur in overlap. This evidence suggests that both disorders might have common neurobiological pathways involving the DS. Therefore, the aim of this study was to examine the DRD1 and DRD2 dopamine receptor single nucleotide polymorphisms (SNPs) as potential risk factors for ASD, ADHD, and ASD/ADHD overlap. Genetic data were obtained from four groups: 75 ASD patients, 75 ADHD patients, 30 patients with ASD/ADHD overlap, and 75 healthy controls. All participants were between 2 and 17 years old. We compared the genotypic and allelic frequency of 18 SNPs among all of the study groups. Moreover, in the case of statistically significant differences, odds ratios (OR) were obtained to evaluate if the presence of SNPs might be a risk factor of developing a specific clinical phenotype. This study found that DRD1 and DRD2 receptors SNPs might be considered as potential risk factors for ASD and ADHD. However, only DRD2-12 (rs7131465) was significantly associated with a higher risk for the ASD/ADHD overlap. These data support the hypothesis of the genetic neuromodulation of the DS in the neurobiology of these conditions.

Bloodstream infections by Malassezia and Candida species in critical care patients.

Despite being considered an emerging yeast related to immunocompromised individuals, severe infections by Malassezia furfur have not been evaluated. During a one-year survey on yeasts fungemia, 290 neonatal and 17 pediatric patients with intravascular catheters, lipid parenteral nutrition, prolonged ward stay, and surgery were enrolled. In addition, the origin of the infection was investigated by swabbing hand skin of patients, parents, and healthcare workers and medical devices. All biological specimens and swabs were cultured on Sabouraud dextrose agar and Dixon agar. The yeasts identification was based on morphological and biochemical features and by matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) and confirmed by sequencing the internal transcribed spacer of nuclear ribosomal DNA. A higher prevalence of M. furfur (2.1%) over Candida spp. (1.4%) caused bloodstream infections (BSIs). Twelve fungemia episodes were recorded: 2 by M. furfur in a pediatric ward and 10 in a neonatal intensive care unit (6 caused by M. furfur and 4 by Candida spp.). M. furfur was also isolated from the skin of all patients with BSIs, from the hand skin of a parent, and from an incubator surface and sheet. Patients with Candida spp. and M. furfur BSIs were successfully treated with intravenous liposomal Amphotericin B. These findings highlight the need for a more accurate etiological diagnosis in high-risk patients by adding lipid-supplemented culture media for Malassezia in the current mycological routine as the clinical features, patient management, and outcomes in both Candida and Malassezia fungemia do not differ.

Defective in vitro contractility of ureteropelvic junction in children with functional and obstructive urine flow impairment.

BACKGROUND/PURPOSE: Studies of children with urinary flow impairment (UFI) at the ureteropelvic junction (UPJ) have revealed prestenotic, stenotic, and poststenotic histologic changes. Muscle function, however, has not been investigated. We therefore evaluated in vitro UPJ contractility by tensiometry in children with UFI. METHODS: Freshly excised UPJs from 11 children with UFI (6 functional, 5 obstructive) were each divided into 3 parallel, prestenotic, stenotic, and poststenotic rings, and those from 7 children with Wilms' tumor were divided into proximal, medial, and distal segments. Each ring was studied in vitro by tensiometry in the basal state and after stimulation with 25 and 60 mmol/L KCl. RESULTS: The stenotic rings from the UFI subjects displayed a significantly lower basal contractility than the other 2 rings, and their 25 and 60 mmol/L KCl-induced contractility was absent or severely reduced, whereas the values of these parameters were similar to that observed in controls in the other 2 rings of patients with either functional or obstructive UFI. CONCLUSIONS: Basal and KCl-induced contractility of the stenotic segment is severely impaired in children and infants with either functional or obstructive UFI, whereas the contractility of their pre- and poststenotic UPJ segments is similar to that recorded in controls.

Endoscopic treatment with polydimethylsiloxane in children with dilating vesico-ureteric reflux.

OBJECTIVE: To report our experience of treating dilating vesico-ureteric reflux (VUR) in children, using an injectable form of polydimethylsiloxane (Macroplastique, MPQ; Uroplasty BV, Geleen, The Netherlands), as medical treatment for moderate or severe VUR is associated with a high proportion of persistence or development of new scars. PATIENTS AND METHODS: The study included 32 children (40 ureters) with VUR; 13 (32%) were grade III, 20 (50%) grade IV and seven (18%) grade V. They were treated over a period of 42 months, 66% for some form of bladder dysfunction and 38% had associated diseases. The main indications were VUR grade, recurrent urinary tract infection and progression of reflux nephropathy. MPQ was injected under general anaesthesia via an 11 F cystoscope, x 30 objective, with a 5 F working channel. RESULTS: The mean (sd) follow-up was 28.5 (10.2) months; VUR resolved in 80% of patients and improved to minimal VUR in the remaining 20%. The resolution/improvement rate was 72% after the first injection, 97% after the second and 100% after the third. There were no significant complications. CONCLUSION: The endoscopic implantation of MPQ always corrected VUR even though 68% of the cases were grade IV-V. It should become the treatment of choice for severe VUR.