Objectives We wished to examine whether patterns of neural engagement during emotional processing could distinguish patients with Bipolar Disorder (BD) from their relatives with Major Depressive ...Disorder (MDD) and their psychiatrically healthy relatives. Methods Functional magnetic resonance imaging (fMRI) data were collected during a sad facial affect recognition task from 41 remitted BD patients, 40 of their first degree relatives (15 of whom had MDD) and 51 healthy controls. Data were analysed in SPM5. Results A) Compared to controls, all individuals with genetic predisposition to BD showed increased activation in temporal lobe regions. B) Compared to BD patients, MDD relatives had reduced activation in the left posterior cingulate (BA31) and the orbitofrontal cortex (BA11) C) Compared to their healthy relatives, BD patients showed increased activation in somatosensory cortices bilaterally (BA3 and BA5) and in the posterior cingulate gyrus (BA30) on the left and reduced activation in the right cerebellum and the right inferior frontal gyrus (BA47). D) Compared to their healthy relatives, MDD relatives showed reduced activation in the left superior frontal gyrus (BA10). Conclusions Our results suggest that: (a) genetic predisposition to BD was associated with increased activation in distal nodes of the ventral visual pathway within the temporal lobe (b) disease expression for mood disorders was associated with reduced neural responses in the PFC (c) resilience in healthy relatives was associated with enhanced PFC engagement (d) loci identified showed partial specificity for different clinical phenotypes indicative of partially segregated processes underpinning disease and resilience for mood disorders.
The Met allele of the catechol-O-methyltransferase (COMT) valine-to-methionine (Val158Met) polymorphism is known to affect dopamine-dependent affective regulation within amygdala-prefrontal cortical ...(PFC) networks. It is also thought to increase the risk of a number of disorders characterized by affective morbidity including bipolar disorder (BD), major depressive disorder (MDD) and anxiety disorders. The disease risk conferred is small, suggesting that this polymorphism represents a modifier locus. Therefore our aim was to investigate how the COMT Val158Met may contribute to phenotypic variation in clinical diagnosis using sad facial affect processing as a probe for its neural action.
We employed functional magnetic resonance imaging to measure activation in the amygdala, ventromedial PFC (vmPFC) and ventrolateral PFC (vlPFC) during sad facial affect processing in family members with BD (n=40), MDD and anxiety disorders (n=22) or no psychiatric diagnosis (n=25) and 50 healthy controls.
Irrespective of clinical phenotype, the Val158 allele was associated with greater amygdala activation and the Met158 allele with greater signal change in the vmPFC and vlPFC. Signal changes in the amygdala and vmPFC were not associated with disease expression. However, in the right vlPFC the Met158 allele was associated with greater activation in all family members with affective morbidity compared with relatives without a psychiatric diagnosis and healthy controls.
Our results suggest that the COMT Val158Met polymorphism has a pleiotropic effect within the neural networks subserving emotional processing. Furthermore the Met158 allele further reduces cortical efficiency in the vlPFC in individuals with affective morbidity.
Objectives A single nucleotide polymorphism within the CACNA1C gene (rs1006737) has been found to confer increased risk of Bipolar Disorder (BD) and has been linked to altered neuronal gating and ...emotional behaviour. As current models of BD suggest abnormal integration within frontolimbic networks, our aim was to explore the effect of the CACNA1C genotype on prefrontal and limbic activation. Methods We genotyped 90 participants from the Vulnerability to Bipolar Disorder Study comprising of 41 euthymic BD patients and 49 healthy controls. Functional magnetic resonance imaging data were obtained while participants performed a fearful versus neutral facial affect processing task. Results We found a significant diagnosis by genotype interaction with BD patients homozygous for the risk allele having reduced prefrontal activation compared to the other groups. Conclusions The present findings support the hypothesis that the rs1006737 polymorphism in the CACNA1C gene confers increased risk of BD by modulating amygdala and PFC activation during emotional processing.
Abstract Background Our study aims at disclosing epidemiology and most relevant clinical features of esophageal atresia (EA) pointing to a model of multicentre collaboration. Methods A detailed ...questionnaire was sent to all Italian Units of pediatric surgery in order to collect data of patients born with EA between January and December 2012. The results were crosschecked by matching date and place of birth of the patients with those of diagnosis-related group provided by the Italian Ministry of Health (MOH). Results A total of 146 questionnaires were returned plus a further 32 patients reported in the MOH database. Basing on a total of 178 patients with EA born in Italy in 2012, the incidence of EA was calculated in 3.33 per 10,000 live births. Antenatal diagnosis was suspected in 29.5% patients. 55.5% showed associated anomalies. The most common type of EA was Gross type C (89%). Postoperative complications occurred in 37% of type C EA and 100% of type A EA. A 9.5% mortality rate was reported. Conclusions This is the first Italian cross-sectional nationwide survey on EA. We can now develop shared guidelines and provide more reliable prognostic expectations for our patients.
Purpose
This study was undertaken to compare the effectiveness of ultrasound-guided Hartmann’s solution enema (US-E) and radiological liquid enema (RX-E) in reducing idiopathic ileocecocolic ...intussusceptions in relation to patient age and symptom duration.
Materials and methods
The study group consisted of 42 patients with idiopathic ileocecocolic intussusception treated with US-E (20 patients) or RX-E (23 patients), with one patient undergoing both procedures owing to recurrence. Patients were divided into subgroups according to age (<6 months, 6–12 months, >12 months) and symptom duration (<12 h, 12–24 h, >24 h).
Results
Complete reduction was achieved in 15/20 patients treated with US-E (75%) and in 10/23 treated with RX-E (43.5%) (
p
=ns). Recurrence was observed in 1/20 US-E and 0/23 RX-E (
p
=ns) patients. No complications were encountered. US-E had a significantly higher success rate than RX-E in patients >12 months (
p
=0.0063) and with symptom duration >24 h (
p
=0.0361). No differences were found in the other subgroups (
p
=ns).
Conclusions
US-E and RX-E are procedures of comparable value and safety in reducing idiopathic intussusception. US-E seems to be more effective in patients >12 months or with symptom duration >24 h. As US-E avoids radiation exposure, it should be considered the first-choice procedure for reducing idiopathic ileocecocolic intussusception, particularly in these two subgroups of patients.
Summary Introduction There is a lack of prospective studies that include a selected population of patients with primary non-refluxing megaureter (PM). Thus, a longitudinal observational study was ...designed to follow from birth a selected population of children with PM; all were antenatally diagnosed. In this paper, the outcomes observed in the first year of life are presented. Objective The primary aim was to follow the natural history of PM. The secondary aim was to monitor the onset of any potential complications such as urinary tract infections (UTIs), need for hospitalization and need for surgical correction. Study design All children with antenatally diagnosed PM, born between January 2007 and December 2013, were prospectively followed with observational management: renal ultrasonography and clinical evaluation on a 3-month basis; urinalysis and culture in case of symptoms; and mercaptoacetyltriglycine (MAG3) nuclear scan once older than 1 month. Children presenting at birth with mild urinary tract dilatation were included in Group A; those with moderate-to-severe dilatation were included in Group B. Continuous antibiotic prophylaxis (CAP) was administered to Group B. Results Forty-seven children (44 males, three females) with 58 PM were included in the study. The participants and their corresponding outcomes are shown in the summary Table. The presence of obstruction at renogram was a significant predictor of UTIs and hospitalization. Discussion The strengths of this study were its prospective nature and its very consistent population. A limitation was the lack of control groups. The results regarding the negligible incidence of complications in Group A and the residual incidence of febrile UTIs (20%) and hospitalization (17%) in Group B, even with CAP, are in line with previous literature. In contrast, there was a higher risk of UTIs observed in children aged older than 6 months. Conclusions Resolution or improvement is expected in all cases of PM with mild postnatal dilatation, and close to 60% of those with moderate or severe dilatation. Surgery is rarely performed on children younger than 1 year of age. It is safe to observe children with mild urinary tract dilatation without CAP, because the incidence of UTIs is negligible. In those presenting with moderate or severe urinary tract dilatation, despite CAP, a residual incidence of UTIs is seen, and symptomatic patients often require hospitalization. However, UTIs are well tolerated and do not seem to modify outcome. Cases showing obstruction on the MAG3 scan seem to be at higher risk of UTIs and hospitalization. Table Outcomes and events of interest during the first year of life, in the overall population and in the two groups. Group Participants n Primary non-refluxing megaureter n Outcome at 1 year of age Events of interest Resolved n (%) Improved n (%) Stable n (%) Worsened n (%) Afebrile UTIs (%) Febrile UTIs (%) Hospitalization (%) Surgery (%) A + B 47 58 11 (19.0) 30 (51.7) 14 (24.1) 3 (5.2) 3 (6.4) 7 (14.9) 6 (12.8) 2 (4.2) A 13 17 6 (35.3) 11 (64.7) – – 2 (15.4) – – – B 34 41 5 (12.2) 19 (46.3) 14 (34) 3 (7.3) 1 (2.9) 7 (20.6) 6 (17.6) 2 (5.9)
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