Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Happy Puppet syndrome.

ABSTRACT: Happy Puppet syndrome is characterised by a partial deficit of paired autosomal chromosome 15. It is a neuro-genetic disorder characterised by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling and usually a happy demeanour. It is also called as Angelman syndrome (AS). People with AS are sometimes known as 'angels', both because of the syndrome's name and because of their youthful, happy appearance. A 6.5-year-old girl is presented and clinical suspicion of AS was raised at the age of 4 years when she presented with mental retardation and epilepsy, absence of speech, inability to gait and unprovoked episodes of laughter. Fluorescent in situ hybridisation chromosomal analysis revealed micro deletion on the maternally derived allele of 15q chromosome.

SUBMITTER: Sarkar PA

PROVIDER: S-EPMC3207767 | biostudies-other | 2011

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Publications

Happy Puppet syndrome.

Sarkar Priyanka Airen PA Shigli Anand A Patidar Chetan C

BMJ case reports 20111028

Happy Puppet syndrome is characterised by a partial deficit of paired autosomal chromosome 15. It is a neuro-genetic disorder characterised by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling and usually a happy demeanour. It is also called as Angelman syndrome (AS). People with AS are sometimes known as 'angels', both because of the syndrome's name and because of their youthful, happy appearance. A 6.5-ye ...[more]

PMID: 22675103

Similar Datasets

Do the physiotherapy results make us happy in a case with 'happy puppet' (Angelman) syndrome?

Project description:This study aimed to investigate the benefits of physiotherapy programme in a patient with Angelman syndrome (AS) during a follow-up of 3 years. Assessments included: disability level with gross motor function classification systems, gross motor function with gross motor function measurement (GMFM), balance with Berg Balance Scale, motor performance with gross motor performance measurement (GMPM) and tonus assessment with Modified Ashworth Scale. Physiotherapy programme was performed during 36 months, 3 days per week by physical therapist according to Neurodevelopmental Treatment approach. During the 36 months, GMFM increased from 11.46% to 70.82% and GMPM increased from 1.25% to 70.25%. This case report is the first study about the effectiveness of physiotherapy with medium-term follow-up in a child with AS. Physiotherapy results make us happy in this particular patient with 'happy puppet' syndrome.

| S-EPMC3027362 | biostudies-other

Happy heart syndrome: role of positive emotional stress in takotsubo syndrome.

Project description:AIMS:Takotsubo syndrome (TTS) is typically provoked by negative stressors such as grief, anger, or fear leading to the popular term 'broken heart syndrome'. However, the role of positive emotions triggering TTS remains unclear. The aim of the present study was to analyse the prevalence and characteristics of patients with TTS following pleasant events, which are distinct from the stressful or undesirable episodes commonly triggering TTS. METHODS AND RESULTS:Takotsubo syndrome patients with preceding pleasant events were compared to those with negative emotional triggers from the International Takotsubo Registry. Of 1750 TTS patients, we identified a total of 485 with a definite emotional trigger. Of these, 4.1% (n = 20) presented with pleasant preceding events and 95.9% (n = 465) with unequivocal negative emotional events associated with TTS. Interestingly, clinical presentation of patients with 'happy heart syndrome' was similar to those with the 'broken heart syndrome' including symptoms such as chest pain [89.5% (17/19) vs. 90.2% (412/457), P = 1.0]. Similarly, electrocardiographic parameters, laboratory findings, and 1-year outcome did not differ. However, in a post hoc analysis, a disproportionate higher prevalence of midventricular involvement was noted in 'happy hearts' compared with 'broken hearts' (35.0 vs. 16.3%, P = 0.030). CONCLUSION:Our data illustrate that TTS can be triggered by not only negative but also positive life events. While patient characteristics were similar between groups, the midventricular TTS type was more prevalent among the 'happy hearts' than among the 'broken hearts'. Presumably, despite their distinct nature, happy and sad life events may share similar final common emotional pathways, which can ultimately trigger TTS.

| S-EPMC5841222 | biostudies-literature

Happy heart syndrome mimicking acute pulmonary embolism and acute coronary syndrome.

Project description: Not available

| S-EPMC7163216 | biostudies-literature

On Happy Hypoxia and on Sadly Ignored "Acute Vascular Distress Syndrome" in Patients with COVID-19.

Project description: Not available

| S-EPMC7706160 | biostudies-literature

Happy gut, happy kidneys? Restoration of gut microbiome ameliorates acute and chronic kidney disease.

Project description:In a new study, Zhu et al. (2021) show that mitigating dysbiosis by the probiotic L. casei Zhang reduces kidney inflammation via restoring short-chain fatty acid-producing gut microbiome and nicotinamide metabolism. These findings shed light on the underlying mechanisms of probiotics in treating human kidney diseases.

| S-EPMC8994854 | biostudies-literature

Happy-Productive Teams and Work Units: A Systematic Review of the 'Happy-Productive Worker Thesis'.

Project description:The happy-productive worker thesis (HPWT) assumes that happy employees perform better. Given the relevance of teams and work-units in organizations, our aim is to analyze the state of the art on happy-productive work-units (HPWU) through a systematic review and integrate existing research on different collective well-being constructs and collective performance. Research on HPWU (30 studies, 2001-2018) has developed through different constructs of well-being (hedonic: team satisfaction, group affect; and eudaimonic: team engagement) and diverse operationalizations of performance (self-rated team performance, leader-rated team performance, customers' satisfaction, and objective indicators), thus creating a disintegrated body of knowledge about HPWU. The theoretical frameworks to explain the HPWU relationship are attitude-behavior models, broaden-and-build theory, and the job-demands-resources model. Research models include a variety of antecedents, mediators, and moderating third variables. Most studies are cross-sectional, all propose a causal happy-productive relationship (not the reverse), and generally find positive significant relationships. Scarce but interesting time-lagged evidence supports a causal chain in which collective well-being leads to team performance (organizational citizenship behavior or team creativity), which then leads to objective work-unit performance. To conclude, we identify common issues and challenges across the studies on HPWU, and set out an agenda for future research.

| S-EPMC6981377 | biostudies-literature

A case report: 'happy heart' syndrome in a patient treated with atomoxetine for attention deficit hyperactivity disorder.

Project description:Background:Takotsubo syndrome (TS) is an acute cardiac disease entity with a clinical presentation resembling that of an acute coronary syndrome. Numerous physical stress factors including pheochromocytoma, epinephrine, and norepinephrine administration, and even physiological exercise have been reported to induce TS. Takotsubo syndrome induced by medications causing elevation of plasma norepinephrine as serotonin-norepinephrine reuptake inhibitor or selective norepinephrine reuptake inhibitor (atomoxetine) has been reported. Case summary:We report on the case of a 49-year-old woman who was on atomoxetine treatment for attention deficit hyperactivity disorder, developed TS in association with sexual intercourse. Discussion:The TS pattern in this patient was the type of mid-apical ballooning with apical tip-sparing at presentation. Two days later, TS evolved to mid-ventricular pattern. Takotsubo syndrome resolved completely 1 month after the index presentation.

| S-EPMC6939811 | biostudies-literature

A HAPPY map of Cryptosporidium parvum.

Project description:We have constructed a HAPPY map of the apicomplexan parasite Cryptosporidium parvum. We have placed 204 markers on the 10.4-Mb genome, giving an average marker spacing of approximately 50 kb, with an effective resolution of approximately 40 kb. HAPPY mapping (an in vitro linkage technique based on screening approximately haploid amounts of DNA by the polymerase chain reaction) is fast and accurate and is not subject to the distortions inherent in cloning, meiotic recombination, or hybrid cell formation. In addition, little genomic DNA is needed as a substrate, and the AT content of the genome is largely immaterial, making it an ideal method for mapping otherwise intractable parasite genomes. The map, covering all eight chromosomes, consists of 10 linkage groups, each of which has been chromosomally assigned. We have verified the accuracy of the map by several methods, including the construction of a >140-kb PAC contig on chromosome VI. Less than 1% of our markers detect non-rDNA duplicated sequences.

| S-EPMC310802 | biostudies-literature

Happy you, happy me: expressive changes on a stranger's voice recruit faster implicit processes than self-produced expressions.

Project description:In social interactions, people have to pay attention both to the 'what' and 'who'. In particular, expressive changes heard on speech signals have to be integrated with speaker identity, differentiating e.g. self- and other-produced signals. While previous research has shown that self-related visual information processing is facilitated compared to non-self stimuli, evidence in the auditory modality remains mixed. Here, we compared electroencephalography (EEG) responses to expressive changes in sequence of self- or other-produced speech sounds using a mismatch negativity (MMN) passive oddball paradigm. Critically, to control for speaker differences, we used programmable acoustic transformations to create voice deviants that differed from standards in exactly the same manner, making EEG responses to such deviations comparable between sequences. Our results indicate that expressive changes on a stranger's voice are highly prioritized in auditory processing compared to identical changes on the self-voice. Other-voice deviants generate earlier MMN onset responses and involve stronger cortical activations in a left motor and somatosensory network suggestive of an increased recruitment of resources for less internally predictable, and therefore perhaps more socially relevant, signals.

| S-EPMC6545538 | biostudies-literature

Trigger-happy resident memory CD4+ T cells inhabit the human lungs.

Project description:Resident memory T-cells (TRM) reside in the lung epithelium and mediate protective immunity against respiratory pathogens. While lung CD8+ TRM have been extensively characterized, the properties of CD4+ TRM remain unclear. Here we determined the transcriptional signature of CD4+ TRM, identified by the expression of CD103, retrieved from human lung resection material. Various tissue homing molecules were specifically upregulated on CD4+ TRM, while expression of tissue egress and lymph node homing molecules were low. CD103+ TRM expressed low levels of T-bet, only a small portion expressed Eomes, and while the mRNA levels for Hobit were increased, protein expression was absent. On the other hand, the CD103+ TRM showed a Notch signature. CD4+CD103+ TRM constitutively expressed high transcript levels of numerous cytotoxic mediators, which was functionally reflected by a fast recall response, magnitude of cytokine production, and a high degree of polyfunctionality. Interestingly, the superior cytokine production appears to be due to an accessible IFNγ locus and was partially due to rapid translation of preformed mRNA. Our studies provide a molecular understanding of the maintenance and potential function of CD4+ TRM in the human lung. Understanding the specific properties of CD4+ TRM is required to rationally improve vaccine design.

2017-11-08 | GSE103527 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data