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Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by mutations of the transcription factor 4 (Tcf4) gene. Individuals with PTHS often suffer from severe abdominal bloating and constipation. In this short communication, we discuss two individuals with PTHS who died unexpectedly due to gastrointestinal complications. We aim to increase awareness among healthcare professionals who care for individuals with PTHS, to ensure adequate screening and management of gastrointestinal symptoms in this population. Moreover, we discuss how fatal gastrointestinal complications may be related to PTHS and provide an overview of the literature.

Background and objectives: Left-sided pancreatic lesions are often treated surgically. Accurate diagnostic work-up is therefore essential to prevent futile major abdominal surgery. Large series focusing specifically on the preoperative work-up of left-sided pancreatic lesions are lacking. This surgical cohort analysis describes the sensitivity of CT, MRI, and EUS-FNA/B in the diagnostic work-up of left-sided pancreatic lesions.Methods: We performed a post-hoc analysis of patients who underwent surgery for a left-sided pancreatic lesion between April 2010 and August 2017 and participated in the randomized CPR trial. Primary outcome was the sensitivity of CT, MRI, and EUS-FNA/B. Sensitivity was determined as the most likely diagnosis of each modality compared with the postoperative histopathological diagnosis. Additionally, the change in sensitivity of EUS versus EUS-FNA/B (i.e., cyst fluid analysis, and/or tissue acquisition) was measured.Results: Overall, 181 patients were included (benign: 23%, premalignant: 27%, malignant: 50%). Most patients had solid lesions (65%). Preoperative imaging included CT (86%), MRI (41%), EUS (68%). Overall, CT and EUS-FNA/B reached a sensitivity of both 71%, compared with 66% for MRI. When EUS was combined with FNA/B, sensitivity rose from 64% to 71%. For solid lesions, CT reached the highest sensitivity (75%) when compared with MRI (70%) and EUS-FNA/B (69%). For cystic lesions, EUS-FNA/B reached the highest sensitivity (75%) when compared with CT and MRI (both 62%).Conclusions: CT is the most sensitive diagnostic modality for solid and EUS-FNA/B for cystic left-sided pancreatic lesions. EUS-FNA/B was associated with an increased sensitivity when compared to EUS alone. (C) 2021 The Authors. Published by Elsevier B.V. on behalf of IAP and EPC.

Transcranial magnetic stimulation (TMS) is often used to understand the function of individual brain regions, but this ignores the fact that TMS may affect network-level rather than nodal-level processes. We examine the effects of a double perturbation to two frontoparietal network nodes, compared with the effects of single lesions to either node. We hypothesized that Bayesian evidence for the absence of effects that build upon one another indicates that a single perturbation is consequential to network-level processes. Twenty-three humans performed pro-saccades (look toward) and anti-saccades (look away) after receiving continuous theta-burst stimulation (cTBS) to right frontal eye fields (FEFs), dorsolateral prefrontal cortex (DLPFC), or somatosensory cortex (S1; the control region). On a subset of trials, a TMS pulse was applied to right posterior parietal cortex (PPC). FEF, DLPFC, and PPC are important frontoparietal network nodes for generating anti-saccades. Bayesian t tests were used to test hypotheses for enhanced double perturbation effects (cTBS plus TMS pulse) on saccade behaviors, against the alternative hypothesis that double perturbation effects to a network are not greater than single perturbation effects. In one case, we observed strong evidence [Bayes factor (BF10) = 325] that PPC TMS following DLPFC cTBS enhanced impairments in ipsilateral anti-saccade amplitudes over DLPFC cTBS alone, and not over the effect of the PPC pulse alone (BF10 = 0.75), suggesting that double perturbation effects do not augment one another. Rather, this suggests that computations are distributed across the network, and in some cases there can be compensation for cTBS perturbations., eNeuro, 7 (1), ISSN:2373-2822

Transcranial magnetic stimulation (TMS) has contributed to our understanding of the functions of individual brain regions, but its use to examine distributed functions throughout a network has been more limited. We assess the functional consequences of a TMS pulse to the oculomotor network which was first perturbed by continuous theta-burst stimulation (cTBS), to examine the potential for additive effects from lesions to two network nodes. Twenty-three humans performed pro-(look towards) and anti-(look away) saccades after receiving cTBS to right frontal eye fields (FEF), dorsolateral prefrontal cortex (DLPFC) or somatosensory cortex (S1) (control). On a subset of trials, a TMS pulse was applied to right posterior parietal cortex (PPC). We assessed changes in saccade amplitudes, performance (percentage correct) and reaction times, as these parameters relate to computations in networks involving these nodes. We observed impairments in ipsilateral anti-saccade amplitudes following DLPFC cTBS that were enhanced by a PPC pulse, but that were not enhanced relative to the effect of the PPC pulse alone. There was no evidence for effects from the double lesion to performance or reaction times. This suggests that computations are distributed across the network, such that even a single lesion is consequential.

Contains fulltext : 80667.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To investigate whether body mass index (BMI) is a prognostic factor for biochemical recurrence (BCR) in Dutch men after radical prostatectomy (RP), as although epidemiological studies of obesity in relation to prostate cancer have provided conflicting results, recent studies from the USA suggest that a higher BMI is a risk factor for progression of prostate cancer. PATIENTS AND METHODS: Of the 1417 patients with prostate cancer who had RP at two University hospitals, 1302 were included in the present study. BMI (kg/m(2)) classes were defined as normal ( or =30). The median follow-up was 59 months and clinical data were obtained retrospectively from charts. BCR was defined as two consecutive prostate-specific antigen (PSA) levels of >0.1 ng/mL. RESULTS: In all, 600 patients were classified as having normal weight (43.9%), 665 as overweight (48.6%) and 103 as obese (7.5%). Overall, 297 patients developed BCR after RP; the 10-year risk (95% confidence interval) of BCR was 31.9 (26.6-37.2)%, 30.5 (25.8-35.2)% and 23.9 (14.9-32.9)% for patients in the three categories, respectively (P = 0.836). Multivariable proportional hazard regression analyses of BMI and established prognostic factors for BCR did not change these results. CONCLUSION: BMI appeared to have no prognostic value for BCR in Dutch patients with clinically localized prostate cancer and treated with RP.