Prognostic significance of acute postoperative seizures in extra-temporal lobe epilepsy surgery

ObjectiveThis study aims to assess the prognostic value of acute postoperative seizures (APOS) in patients surgically treated for drug-resistant extra-temporal lobe (ET) epilepsy.MethodsWe studied 77 consecutive patients with ET epilepsy who underwent epilepsy surgery and were followed up for at least 2 years (mean duration of follow-up 6.2 years, range 2–14). Medical charts were reviewed to identify APOS, defined as ictal events with the exception of auras occurring within the first 7 days after surgery. Seizure outcome was determined at annual intervals. Patients who were in Engel Class I at the last contact were classified as having a favourable outcome.ResultsSeizure outcome was favourable in 47 patients (61%). The occurrence of APOS and incompleteness of resection were found to be independently associated with unfavourable outcome in a multiple regression model including all preoperative factors identified as outcome predictors in univariate analysis. Duration of illness was the only independent preoperative predictor of APOS.ConclusionsOur study suggests that APOS may predict long-term outcome in patients undergoing resective surgery for ET epilepsy. Given some study limitations, our findings should be regarded as preliminary and need confirmation from future larger, prospective, multicentre studies.SignificanceCaution may be required in the clinical management of patients experiencing APOS.     

Attentional shifts between audition and vision in Autism Spectrum Disorders

Previous evidence on neurotypical adults shows that the presentation of a stimulus allocates the attention to its modality, resulting in faster responses to a subsequent target presented in the same (vs. different) modality. People with Autism Spectrum Disorders (ASDs) often fail to detect a (visual or auditory) target in a stream of stimuli after shifting attention between modalities, possibly because they do not fully switch their attention from one modality to the other. In this study, the performance of a group of high-functioning patients with ASDs and a group of neurotypical controls was compared. Participants were asked to detect a target, auditory or visual, which was preceded, at different temporal intervals (i.e., 150, 600, 1000 ms), by an uninformative cue, either in the same or a different modality. In controls, when the target was visual, the cue modality did not affect performance. Unlike, when the target was auditory, a visual cue produced longer reaction times as compared to when it was auditory. In the ASD group, irrespectively of the modality of the cue, a slowing-down of responses to the target was observed at increasing temporal intervals. The discrepancy of performance is consistent with the ‘over-focused’ theory of sensory processing.     

MEF2C deletions and mutations versus duplications: A clinical comparison

5q14.3 deletions including the MEF2C gene have been identified to date using genomic arrays in patients with severe developmental delay or intellectual disability, stereotypic behavior, epilepsy, cerebral malformations and a facial gestalt not really distinctive though characterized by broad and/or high, bulging forehead, upslanting palpebral fissures, flat nasal root and bridge, small, upturned nose, hypotonic small mouth resulting in cupid bow/tented upper lip. MEF2C mutations have been also identified in patients with overlapping phenotype so that it is considered the gene responsible for the 5q14.3 deletion syndrome. To date, one single duplication including MEF2C has been reported in a patient with intellectual disability but its clinical significance remains uncertain also because of the large size of the imbalance. Here we present two further patients with 5q14.3 duplications including MEF2C. Their phenotype indeed suggest the pathogenic effect of the MEF2C duplication although other duplicated genes also brain expressed might contribute to the clinical features. In none of them a clear-cut syndrome can be identified. A comparison between MEF2C deleted/mutated and duplicated patients is also presented.     

Pulmonary adenofibroma: Cytologic and clinicopathologic features of a rare benign primary lung lesion

We report a case of pulmonary adenofibroma in a 29‐year‐old female found by CT scan during work‐up for midline chest pain. To our knowledge, the cytological features of this entity have not been previously reported. Cytology demonstrated bland epithelial and stromal cells of varying size without karyorrhexis, pyknosis, or necrosis and with very rare mitoses. Stromal cells were present as either naked bipolar nuclei, as spindle cells with fragile eosinophilic cytoplasm, or as rare larger carrot shaped nuclei. Epithelial cells were present as small loosely cohesive groups with smooth round nuclei and moderate amounts of cytoplasm. Histologically, this lesion consisted of a leaf‐like fibroepithelial pattern in which the clefts were lined by a single layer of cuboidal epithelium reminiscent of adenofibroma occurring in the female genital tract. Immunohistochemical analysis demonstrated epithelium that stained positively for pan‐cytokeratin and TTF‐1. The stroma stained positively for vimentin and desmin, and was weakly positive for SMA‐1. The lesion was confirmed to be pulmonary adenofibroma with a smooth muscle component. The differential diagnosis for this lesion includes, but is not limited to, pulmonary hamartoma, pulmonary blastoma, adenomyofibroma, synovial sarcoma, and visceral metastases. It is important for cytopathologists to be aware of this benign entity because it can be encountered on lung FNA specimens. Considering this benign lesion in the differential diagnosis may help plan for minimal lung resection. Confirmatory intraoperative frozen section is a reasonable option. Diagn. Cytopathol. 2013;41:991–996. © 2012 Wiley Periodicals, Inc.     

Eculizumab Improves Posttransplant Thrombotic Microangiopathy Due to Antiphospholipid Syndrome Recurrence but Fails to Prevent Chronic Vascular Changes

Thrombotic microangiopathy (TMA) is one of the hallmark vascular lesions of antiphospholipid syndrome nephropathy (APSN). These lesions are at high risk of recurrence after kidney transplantation. The complement pathway is thought to be active in this process. We used eculizumab to treat three consecutive kidney transplant recipients with posttransplant TMA due to APSN recurrence that was resistant to plasmapheresis and explored the complement deposition and apoptotic and vascular cell markers on the sequential transplant biopsies. Treatment with eculizumab resulted in a rapid and dramatic improvement of the graft function in all three patients and in improvement of the TMA lesions within the graft. None of these patients had TMA flares after eculizumab was withdrawn. At the time of TMA diagnosis, immunofluorescence studies revealed intense C5b‐9 and C4d depositions at the endothelial cell surface of the injured vessels. Moreover, C5b‐9 colocalized with vessels exhibiting a high rate of apoptotic cells. Examination of sequential biopsies during eculizumab therapy showed that TMA lesions, C4d and apoptotic markers were rapidly cleared but the C5b‐9 deposits persisted for several months as a footprint of the TMA. Finally, we noticed that complement inhibition did not prevent the development of the chronic vascular changes associated with APSN. Eculizumab seems to be an efficient method for treating severe forms of posttransplant TMA due to APSN recurrence. Terminal complement inhibition does not prevent the development of chronic APSN.     

Componential deconstruction of infant distress vocalizations via tree-based models: A study of cry in autism spectrum disorder and typical development

Understanding early episodes of cry is essential to improve caregiver–child interaction and child well-being. Caregiver perceptions of cry are based on interpretations of different acoustic characteristics of the cry, including the length of the pauses, the number of utterances, and the fundamental frequency. In this study, we used tree-based models to establish a hierarchy of effect in terms of how these acoustic characteristics influence perceptions of cries of children with autism compared to cries of typically developing children. In two studies, one in Italy and the other in Japan, we found that cries of children with autism are perceived more negatively. We also found that the length of the pauses, more than the number of utterances or fundamental frequency, determines listeners’ negative perceptions. Implications for early caregiver–child interactions are discussed.     

Psychosocial risk factors associated with fathers’ mental health in the postnatal period: results from a population-based study

Purpose

Fathers’ psychological distress in the postnatal period can have adverse effects on their children’s wellbeing and development, yet little is known about the factors associated with fathers’ distress. This paper examines a broad range of socio-demographic, individual, infant and contextual factors to identify those associated with fathers’ psychological distress in the first year postpartum.

Methods

Secondary analysis of data from 3,219 fathers participating in the infant cohort of the Longitudinal Study of Australian Children at wave 1 when children were 0–12 months of age.

Results

Approximately 10 % of fathers reported elevated symptoms of psychological distress. Logistic regression analyses revealed that the risk factors were poor job quality, poor relationship quality, maternal psychological distress, having a partner in a more prestigious occupation and low parental self-efficacy.

Conclusion

These findings provide new information to guide the assessment of fathers’ risk for psychological distress in postnatal period. There are also important social policy implications related to workplace entitlements and the provision of services for fathers.