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Beyond Gomez-Lopez-Hernandez syndrome: recurring phenotypic themes in rhombencephalosynapsis.

ABSTRACT: Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with Gómez-López-Hernández syndrome, RES also occurs in conjunction with VACTERL features and with holoprosencephaly (HPE). We sought to determine the full phenotypic spectrum of RES in a large cohort of patients. Information was obtained through database review, patient questionnaire, radiographic, and morphologic assessment, and statistical analysis. We assessed 53 patients. Thirty-three had alopecia, 3 had trigeminal anesthesia, 14 had VACTERL features, and 2 had HPE with aventriculy. Specific craniofacial features were seen throughout the cohort, but were more common in patients with alopecia. We noted substantial overlap between groups. We conclude that although some distinct subgroups can be delineated, the overlapping features seen in our cohort suggest an underlying spectrum of RES-associated malformations rather than a collection of discrete syndromes.

SUBMITTER: Tully HM

PROVIDER: S-EPMC3448816 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature

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Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.

Tully Hannah M HM Dempsey Jennifer C JC Ishak Gisele E GE Adam Margaret P MP Curry Cynthia J R CJ Sanchez-Lara Pedro P Hunter Alasdair A Gripp Karen W KW Allanson Judith J Cunniff Christopher C Glass Ian I Millen Kathleen J KJ Doherty Daniel D Dobyns William B WB

American journal of medical genetics. Part A 20120910 10

Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with Gómez-López-Hernández syndrome, RES also occurs in conjunction with VACTERL features and with holoprosencephaly (HPE). We sought to determine the full phenotypic spectrum of RES in a large cohort of patients. Information was obtained through database review, patient questionnaire, radiographic, and morphologic asses ...[more]

PMID: 22965664

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Project description:IntroductionReddit hosts a large active community of members dedicated to the discussion of cannabinoid hyperemesis syndrome. We sought to describe common themes discussed and the most frequently mentioned triggers and therapies for cannabinoid hyperemesis syndrome exacerbations in the Reddit online community.MethodsData collected from six subreddits were filtered using natural language processing to curate posts referencing cannabinoid hyperemesis syndrome. Based on a manual review of posts, common themes were identified. A machine learning model was trained using the manually categorized data to automatically classify the themes for the rest of the posts so that their distributions could be quantified.ResultsFrom August 2018 to November 2022, 2683 unique posts were collected. Thematic analysis resulted in five overall themes: cannabinoid hyperemesis syndrome-related science; symptom timing; cannabinoid hyperemesis syndrome treatment and prevention; cannabinoid hyperemesis syndrome diagnosis and education; and health impacts. Additionally, 447 trigger and 664 therapy-related posts were identified. The most commonly mentioned triggers for cannabinoid hyperemesis syndrome episodes included: food and drink (n = 62), cannabinoids (n = 45), mental health (e.g., stress, anxiety) (n = 27), and alcohol (n = 22). Most commonly mentioned cannabinoid hyperemesis syndrome therapies included: hot water/bathing (n = 62), hydration (n = 60), antiemetics (n = 42), food and drink (n = 38), gastrointestinal medications (n = 38), behavioral therapies (e.g., meditation, yoga) (n = 35), and capsaicin (n = 29).DiscussionReddit posts for cannabinoid hyperemesis syndrome provide a valuable source of community discussion and individual reports of people experiencing cannabinoid hyperemesis syndrome. Mental health and alcohol were frequently reported triggers within the posts but are not often identified in the literature. While many of the therapies mentioned are well documented, behavioral responses such as meditation and yoga have not been explored by the scientific literature.ConclusionsKnowledge shared via online social media platforms contains detailed information on self-reported cannabinoid hyperemesis syndrome disease and management experiences, which could serve as valuable data for the development of treatment strategies. Further longitudinal studies in patients with cannabinoid hyperemesis syndrome are needed to corroborate these findings.

Project description:BackgroundData-driven approaches can capture behavioral and biological variation currently unaccounted for by contemporary diagnostic categories, thereby enhancing the ability of neurobiological studies to characterize brain-behavior relationships.MethodsA community-ascertained sample of individuals (N = 347, 18-59 years of age) completed a battery of behavioral measures, psychiatric assessment, and resting-state functional magnetic resonance imaging in a cross-sectional design. Bootstrap-based exploratory factor analysis was applied to 49 phenotypic subscales from 10 measures. Hybrid hierarchical clustering was applied to resultant factor scores to identify nested groups. Adjacent groups were compared via independent samples t tests and chi-square tests of factor scores, syndrome scores, and psychiatric prevalence. Multivariate distance matrix regression examined functional connectome differences between adjacent groups.ResultsReduction yielded six factors, which explained 77.8% and 65.4% of the variance in exploratory and constrained exploratory models, respectively. Hybrid hierarchical clustering of these six factors identified two, four, and eight nested groups (i.e., phenotypic communities). At the highest clustering level, the algorithm differentiated functionally adaptive and maladaptive groups. At the middle clustering level, groups were separated by problem type (maladaptive groups; internalizing vs. externalizing problems) and behavioral type (adaptive groups; sensation-seeking vs. extraverted/emotionally stable). Unique phenotypic profiles were also evident at the lowest clustering level. Group comparisons exhibited significant differences in intrinsic functional connectivity at the highest clustering level in somatomotor, thalamic, basal ganglia, and limbic networks.ConclusionsData-driven approaches for identifying homogenous subgroups, spanning typical function to dysfunction, not only yielded clinically meaningful groups, but also captured behavioral and neurobiological variation among healthy individuals.

Project description:Liver transplantation was the product of five interlocking themes. These began in 1958-1959 with canine studies of then theoretical hepatotrophic molecules in portal venous blood (Theme I) and with the contemporaneous parallel development of liver and multivisceral transplant models (Theme II). Further Theme I investigations showed that insulin was the principal, although not the only, portal hepatotrophic factor. In addition to resolving long-standing controversies about the pathophysiology of portacaval shunt, the hepatotrophic studies blazed new trails in the regulation of liver size, function, and regeneration. They also targeted inborn metabolic errors (e.g., familial hyperlipoproteinemia) whose palliation by portal diversion presaged definitive correction with liver replacement. Clinical use of the Theme II transplant models depended on multiple drug immunosuppression (Theme III, Immunology), guided by an empirical algorithm of pattern recognition and therapeutic response. Successful liver replacement was first accomplished in 1967 with azathioprine, prednisone, and antilymphoid globulin. With this regimen, the world's longest surviving liver recipient is now 40 years postoperative. Incremental improvements in survival outcome occurred (Theme IV) when azathioprine was replaced by cyclosporine (1979), which was replaced in turn by tacrolimus (1989). However, the biologic meaning of alloengraftment remained enigmatic until multilineage donor leukocyte microchimerism was discovered in 1992 in long-surviving organ recipients. Seminal mechanisms were then identified (clonal exhaustion-deletion and immune ignorance) that linked organ engraftment and the acquired tolerance of bone marrow transplantation and eventually clarified the relationship of transplantation immunology to the immunology of infections, neoplasms, and autoimmune disorders. With this insight, better strategies of immunosuppression have evolved. As liver and other kinds of organ transplantation became accepted as healthcare standards, the ethical, legal, equity, and the other humanism issues of Theme V have been resolved less conclusively than the medical-scientific problems of Themes I-IV.

Dataset Information

Beyond Gomez-Lopez-Hernandez syndrome: recurring phenotypic themes in rhombencephalosynapsis.

Publications

Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.

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