Congenital penile pathology is associated with abnormal development of the dartos muscle: a prospective study of primary penile surgery at a tertiary referral center.

PURPOSE: Pathophysiological mechanisms leading to chordee in patients with hypospadias and to the hidden state of buried penis in the prepubic fat remain unclear. Resection of dartos tissue usually makes the penis straight in patients with hypospadias and corrects it in those with buried penis, suggesting a common pathophysiology related to dartos tissue. MATERIALS AND METHODS: Tissue samples from 113 children undergoing primary penile surgery for hypospadias (94 patients), epispadias (1) or buried penis (18) were collected between November 2011 and September 2013. Tissue samples from 79 children undergoing circumcision for nonmedical reasons served as controls. All samples were stained with smooth muscle actin and analyzed by the same pathologist, who was blinded to indication for surgery. Chi-square and Fisher exact tests were applied. RESULTS: Three different dartos tissue patterns were observed. Pattern I (normal) consisted of smooth muscle fibers of dartos tissue organized in a parallel configuration in the subcutaneous tissue. Pattern II was characterized by poorly developed and hypotrophic smooth muscle fibers. Pattern III was determined by randomly distributed smooth muscle fibers in the subcutaneous tissue, without parallel configuration. Pattern I was observed in 45 circumcision specimens (64%). Of buried penis cases 78% were considered abnormal (pattern II in 4 cases and III in 10, p = 0.001). Of hypospadias cases 70% were considered abnormal (pattern II in 31 cases, III in 32, and mixed II and III in 3, p < 0.001). The only epispadias case was designated pattern II. CONCLUSIONS: Congenital penile pathology (hypospadias, buried penis) is associated with structural anomalies in dartos tissue. Further research is needed to unveil the pathophysiology of the condition.

Sleep fragmentation and increased periodic limb movements are more common in children with nocturnal enuresis.

AIM: To determine sleep fragmentation in children with nocturnal enuresis (NE). METHODS: Paediatricians assessed NE parameters in children referred to an enuresis clinic. Control subjects, matched by age and gender and without incontinence or (un)treated NE, were recruited from the paediatric sleep clinic regardless of their sleep problem. Sleep was investigated by one overnight video-polysomnography in both groups. RESULTS: The study group comprised 67 children with proven NE (50 boys and 17 girls between six and 16 years: 11.1 ± 2.8 SD). They were matched with 67 control subjects (47 boys and 20 girls aged between six and 16 years: 11.0 ± 2.9 SD). Children with NE had a higher incidence of periodic limb movements associated with cortical arousals in their sleep. They displayed significant higher periodic limb movement index, arousal index and awakening index than the control group. CONCLUSION: Children with NE displayed higher sleep fragmentation and periodic limb movements in sleep than the control children with a possible sleep disorder without NE. The findings emphasise the central involvement of the pathophysiology of NE and the multifactorial nature of the condition.

Neuropsychological functioning related to specific characteristics of nocturnal enuresis.

INTRODUCTION/BACKGROUND: There is a high comorbidity demonstrated in the literature between nocturnal enuresis and several neuropsychological dysfunctions, with special emphasis on attention deficit hyperactivity disorder (ADHD). However, the majority of the psychological studies did not include full non-invasive screening and failed to differentiate between monosymptomatic nocturnal enuresis (MNE) and non-MNE patients. OBJECTIVE: The present study primarily aimed to investigate the association between nocturnal enuresis and (neuro)psychological functioning in a selective homogeneous patient group, namely: children with MNE and associated nocturnal polyuria (NP). Secondly, the study investigated the association between specific characteristics of nocturnal enuresis (maximum voided volume, number of wet nights and number of nights with NP) and ADHD-inattentive symptoms, executive functioning and quality of life. STUDY DESIGN: The psychological measurements were multi-informant (parents, children and teachers) and multi-method (questionnaires, clinical interviews and neuropsychological testing). RESULTS: Thirty children aged 6-16 years (mean 10.43 years, SD 3.08) were included. Of them, 80% had at least one psychological, motor or neurological difficulty. The comorbid diagnosis of ADHD, especially the predominantly inattentive presentation, was most common. According to the teachers, a low maximum voided volume (corrected for age) was associated with more attention problems, and a high number of nights with NP was associated with more behaviour-regulation problems. No significant correlations were found between specific characteristics of enuresis and quality of life. Details are demonstrated in Table. DISCUSSION: The children were recruited from a tertiary referral centre, which resulted in selection bias. Moreover, NP was defined as a urine output exceeding 100% of the expected bladder capacity for age (EBC), and not according to the expert-opinion-based International Children's Continence Society norm of 130% of EBC. The definition for NP of a urine output exceeding 100% of the EBC is more in line with the recent findings of the Aarhus group. CONCLUSIONS: For children with MNE and associated NP, a high comorbidity with the predominantly inattentive presentation of ADHD was demonstrated. Children experienced problems with daytime functioning in relation to their wetting problem at night. According to the teachers, a low maximum voided volume was associated with more attention problems, and a high number of nights with NP was associated with more behaviour-regulation problems. Although comorbidity is still the appropriate word to use, the observation favours a more complex pathogenesis of enuresis with a common pathway in the central nervous system, including: neurotransmitters, influencing neuropsychological functioning as well as sleep, circadian rhythm of diuresis and bladder function control.

Ion trap mass spectrometry of trimethylsilylamides following gas chromatography.

Fatty acid amides are a class of compounds with newly discovered biological activity. The ion trap mass spectrometric characteristics of silylated fatty acid amides were examined. Silylation of primary fatty acid amides is required prior to gas chromatography owing to thermal instability of the underivatized compound. The trimethylsilylated amides do not yield a molecular ion under normal electron ionization conditions (70 eV). With methane as a chemical ionization gas, the [M+H]+ ion appears. The [M+H]+ ion also appears when the helium buffer gas pressure is increased in the ion trap. There are three fragments other than the [M+H]+ peak that are predominant in the ion trap mass spectra of these compounds. Two of the fragments have been reported previously, namely the m/z 59 and the [M-71]+ fragments. The fragment of m/z 72 was identified and is the result of a rearrangement. Isotopic labeling was used to confirm fragment identity and the composition of the rearrangement products. Fragmentation patterns were affected by the amide chain length and concentration.

Determination of fatty acid amides as trimethylsilyl derivatives by gas chromatography with mass spectrometric detection.

Fatty acid amides are a newly emerging class of compounds with biological activity. The amides are formed enzymatically in vivo. Analysis of fatty acid amides has been accomplished by gas chromatography coupled with mass spectrometry. Fatty acid amides required derivatization prior to analysis at high temperatures due to thermal instability. Trimethylsilylation of fatty acid amides has been accomplished under optimum reaction conditions. The limit of detection for the silylated amides is approximately 1 pmol, with the lowest detected level being 700 fmol for the lauramide derivative. Quantitation of fatty acid amide derivatives can be accomplished by monitoring m/z 59 or m/z M-71, the only two major fragments formed in the ion trap mass spectrometer with electron impact ionization. The smaller fragment is the result of a newly reported, McLafferty-type rearrangement; M-71 resulted from loss of an n-pentyl fragment. Either peak gave four-five orders of magnitude linear dynamic range. Numerous trimethylsilylamides from C7 to C20 were separated under standard conditions. Elution was linear with the number of carbons and was systematically affected by the number and position of the double bonds.