Meta-analysis of molecular imaging of serotonin transporters in ecstasy/polydrug users

We conducted a meta-analysis on the available data from studies investigating SERTs in ecstasy users and polydrug using controls. From 7 studies we compared data from 157 ecstasy users and 148 controls across 14 brain regions. The main effect suggested ecstasy/MDMA related SERT reductions (SMD = 0.52, 95% CIs [0.40, 0.65]; Z = 8.36, p < .01, I2 = 89%). A significant effect of subgroups (X2 = 37.41, df = 13, p < .01, I2 = 65.3%) suggested differential effects across brain ROIs. Ecstasy users showed significant SERT reductions in 11 out of the 14 regions, including every neocortical and limbic region analysed. Greatest effects were observed in the occipital cortex (SMD = 1.09, 95% CIs [0.70, 1.48]). No group effects were observed in subcortical areas of the caudate, putamen and midbrain. Literature on Postsynaptic 5HT2A receptor imaging was synthesised with these results. We conclude that, in line with preclinical data, serotonin axons with the longest projections from the raphe nuclei appear to be most affected by ecstasy/MDMA use

The Grizzly, February 9, 1999

Asper Notches 100th Win • Grand Opening for New Bookstore • Faculty Vote to Require Independent Learning Experience • Middle States Grades Ursinus • Spanish Department: Smaller Staff + Higher Enrollment = Big Headaches • Community Service Making a Difference at Ursinus • Opinion: Overcoming Immaturity the Key to Ending Permit Theft; Reader Response; U.S. Sells Out Integrity for Intelligence in Iraq; Free Will an Important Responsibility; Why Gephardt Will Settle for Speaker • The Classical Critic: Bravo Pindell! • Swimming Falls to Swarthmore • Gymnastics Edged by Courtland • Women\u27s Basketball Still in Playoff Hunt • Men\u27s Basketball First in Conference • Ursinus Wrestling Takes Muhlenberg and Gettysburg to the Mathttps://digitalcommons.ursinus.edu/grizzlynews/1433/thumbnail.jp

The Grizzly, March 2, 1999

Vaccination for Meningitis a Success • Dr. England to Speak on Social Crowds • Middle States Presents Findings • Ursinus Alum Named Principal of Vanguard Group • Ursinus Students Called to Aid Project for Peace • Middle States Team Praises Ursinus Students • Ursinus Students Battle Against Sickness • Dean\u27s Office Recognizes Resident Scholars • Opinion: Lessons From Space Ghost; Higher Education: Meal Ticket or Soul Food?; Dan Quayle: Eight Years Later, What has Changed? • Grizzly Wrestlers to Take Trenton State by Storm • Positive Outlook for New Field Hockey Coachhttps://digitalcommons.ursinus.edu/grizzlynews/1436/thumbnail.jp

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child

Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome that results from abnormal nicotinamide adenine dinucleotide phosphate (NADPH) oxidase function. This defect leads to recurrent catalase-positive bacterial and fungal infections as well as associated granuloma formation. We review the case of a 2-year-old boy who presented with ascites and fever of an unknown origin as manifestations of CGD. Cultures were negative for infection throughout his course, and CGD was suspected after identification of granulomas on peritoneal biopsy. Genetic testing revealed a novel mutation in the CYBB gene underlying his condition. This paper highlights the importance of considering CGD in the differential diagnosis of fever of unknown origin and ascites in children

Supplementary Information

Supplementary Figure S1. Flow chart of inclusion/exclusion criteria for the studied autopsy sample. Supplementary Figure S2. Classification of individual FDG-PET scans based on spatial correlation with pathology-specific patterns. Supplementary Figure S3. Illustration of an alternative stratification approach based on a Gaussian Mixture Model analysis of the ∆r distribution. Supplementary Figure S4. Individual FDG-PET profiles of the two cases with hippocampal sclerosis in the comorbid AD+LATE-NC group. Supplementary Figure S5. FDG-PET patterns of the stratified atypical and non-hypometabolic patient groups in the in-vivo cohort. Supplementary Figure S6. Group-specific trajectories of longitudinal cognitive decline. Supplementary Figure S7. Associations with LATE-NC- vs AD-like FDG-PET pattern expression on a continuous scale. Supplementary Figure S8. Individual hypometabolic profiles of LATE-NC cases. Supplementary Figure S9. IMT ratio in relation to age. Supplementary Figure S10. FDG-PET pattern of age-matched AD group. Supplementary Figure S11. LATE-NC-typical pattern using an age-matched control group. Supplementary Figure S12. FDG-PET patterns of pathologic groups without LATE-NC/AD and other pathologies. Supplementary Table S1. Harvard-Oxford atlas ROIs used for screening for relevant hypometabolism. Supplementary Table S2. Characteristics of LATE-NC-like and AD-like patient groups stratified according to a GMM-based approach. Supplementary Table S3. Characteristics of patients stratified according to the inferior-to-medial temporal metabolism ratio. Supplementary Table S4. Contingency table of group assignments based on pattern matching compared to the inferior-to-medial temporal ratio.TDP-43 assessment and individual staging. ADNI memory and executive function composite scores. Possible neuropathologic correlates of a LATE-NC-like FDG-PET pattern.Peer reviewe