Creating and maintaining play connection in a toddler peer group

This study explores how one and two year old peers (henceforth toddlers) participate in joint play activities in a natural group-care setting. We focus on joint play activity between three toddler peers during one full day-care day in a Finnish toddler classroom. Questions guiding the analysis concern the sequential understanding of how play emerges within peer interaction and how toddler peers are able to build sustained co-participation in their joint play during the day. The analysis showed that joint play was fragmented and organized in short segments of dyadic or triadic interaction. Re-establishments of joint play and accumulation of significant play signals during the day were important practices for toddlers to constitute social organization and sustained co-participation in their multi-party peer play. The results strengthen our understanding of very young children as both more and less competent play companions in their peer groups and guide adults’ practice in relation to peer play in toddler classrooms.Peer reviewe

Results of an open label feasibility study of sodium valproate in people with McArdle disease

McArdle disease results from a lack of muscle glycogen phosphorylase in skeletal muscle tissue. Regenerating skeletal muscle fibres can express the brain glycogen phosphorylase isoenzyme. Stimulating expression of this enzyme could be a therapeutic strategy. Animal model studies indicate that sodium valproate (VPA) can increase expression of phosphorylase in skeletal muscle affected with McArdle disease. This study was designed to assess whether VPA can modify expression of brain phosphorylase isoenzyme in people with McArdle disease. This phase II, open label, feasibility pilot study to assess efficacy of six months treatment with VPA (20 mg/kg/day) included 16 people with McArdle disease. Primary outcome assessed changes in VO2peak during an incremental cycle test. Secondary outcomes included: phosphorylase enzyme expression in post-treatment muscle biopsy, total distance walked in 12 min, plasma lactate change (forearm exercise test) and quality of life (SF36). Safety parameters. 14 participants completed the trial, VPA treatment was well tolerated; weight gain was the most frequently reported drug-related adverse event. There was no clinically meaningful change in any of the primary or secondary outcome measures including: VO2peak, 12 min walk test and muscle biopsy to look for a change in the number of phosphorylase positive fibres between baseline and 6 months of treatment. Although this was a small open label feasibility study, it suggests that a larger randomised controlled study of VPA, may not be worthwhile

Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group

Supplementary material is available online at https://www.sciencedirect.com/science/article/pii/S0960896621006878#sec0054 .Highlights: • Management of physical activity intolerance in GSD V and GSD VII is nuanced and impacts activities of daily living (ADL). • Guidelines support clinicians in multiple disciplines across the continuum of care and lifespan of patients. • Overview of management, including guidance on physical activity, nutrition, pain, medical emergencies, and rehabilitation. • Considerations for general medical care, including established and emerging concomitant conditions, potential drug-disease interactions, surgery, and obstetrics. • Emerging issues and knowledge gaps are highlighted.Reneo Pharmaceuticals Inc.; International Association for Muscle Glycogen Storage Disease

Karameller for Kristus : vilkårene for et religiøst fellesskap i dagens USA

Jeg gjorde feltarbeid i et katolsk nonnekloster i delstaten Iowa i USA. Der bodde jeg sammen med nonnene i tre måneder, fra januar til april 2001. Klosteret tilhører cistercienserordenen som ble grunnlagt i Frankrike på 1100- tallet. Nonnene lever etter en regel, som ble skrevet av den italienske munken Benedict for rundt femten hundre år siden. Intensjonen min var å se på hvordan nonnene takler kontrastene mellom moderne, vestlig livsførsel i samfunnet utenfor, som de alle kommer fra, og et tradisjonsbundet liv innenfor klostermurene. Jeg finner Goffmans begrep om totale institusjoner relevant for å kunne forstå klosterkonteksten sog tar for meg hvordan en slik institusjon har sin egen dynamikk og hvordan den trekker opp grenser for å opprettholde sin egen eksistens. Nonnene er sosialiserte inn i det amerikanske samfunnet og det kan medføre problemer når de trer inn i klosteret. Med begrepet embodiment ser jeg på kroppsliggjøringen av tradisjoner og skikker og hvordan det kan vanskeliggjøre integrering i klosterfellesskapet. Felles måltider og felles arbeid styrker samholdet samtidig som det også skaper splid på grunn av inkorporerte praksiser som det tar tid å endre. Kvinnen som trer inn i klosteret går igjennom en overgangsrite (van Gennep: 1999) som ender med avleggelse av de evige løftene og en fullstendig integrering i klosteret. Victor Turner hevder at ordensfolk alltid vil være i en liminal fase i forhold til samfunnet utenfor klosteret. De har røtter i kulturen utenfor, men har forlatt den ved å sosialiseres inn i klosterfellesskapet. Jeg sier meg enig med Turner, men hevder i tillegg at nonnen er liminal også i klosteret, men bare til hun har avlagt de evige løftene. Fra da av er hun hundre prosent integrert i klostersamfunnet. Mary Douglas´ marginalområder representerer både fare og dynamiske krefter og kan kobles til klosterkonteksten på to måter. Klosteret har en marginal posisjon som "et samfunn i samfunnet", som en egen kultur i utkanten av storsamfunnet. Samtidig utgjør samhandlingen mellom klosteret og verden utenfor et marginalområde for nonnene: Der møtes deres verden og verdenen utenfor klosteret. De beskytter sin identitet delvis ved tilbaketrekning fra og delvis ved kontakt med "the world". Nonnene sier selv at denne kontakten er viktig for dem, men at de hele tida må være bevisste på å trekke opp grenser. De beholder integriteten sin samtidig som kontakten med verden utenfor på flere måter er viktig for klosterets eksistens. Dette er ingen ny problemstilling for ordenen. Den har til alle tider måttet ta bevisste valg om avstand: hvor stor avstand og hvilken form for avstand. Det har medført og medfører stadig reformer. Slik består ordenen og slik består klosteret i Iowa: Gjennom bevisste og reflekterte holdninger til tradisjoner, identitet og grense

POPDC3 gene variants associate with a new form of autosomal recessive limb grdle muscular dystrophy

Objective: The Popeye domain containing 3 (POPDC3) gene encodes a membrane protein involved in cAMP signaling. Besides gastric cancer, no disease association has been described. We here describe a new myopathy associated with this gene. Methods: 1,500 patients with unidentified cause of limb girdle weakness or hyperCKemia were screened for pathogenic POPDC3 variants. Five patients carrying POPDC3 variants were examined by muscle MRI, muscle biopsy and cardiac examination. We performed functional analyses in a zebrafish popdc3 knockdown model and heterologous expression of the mutant proteins in Xenopus laevis oocytes to measure TREK-1 current. Results: We identified homozygous POPDC3 missense variants (p.Leu155His, p.Leu217Phe and p.Arg261Gln) in five patients from three ethnically distinct families. Variants affected highly conserved residues in the Popeye (p.Leu155 and p.Leu217) and carboxy-terminal (p.Arg261) domains. The variants were absent from control populations. Probands’ muscle biopsies were dystrophic and serum creatine kinase levels were elevated (1,050-9,200 U/L). Muscle weakness was proximal with adulthood onset in most patients, affecting lower limbs earlier than upper. Muscle MRI revealed fat replacement of paraspinal and proximal leg muscles, while cardiac investigations were unremarkable. Knockdown of popdc3 in zebrafish, using two different splice-site blocking morpholinos, resulted in larvae with tail curling and dystrophic muscle features. All three mutants cloned in Xenopus oocytes caused an aberrant modulation of the mechano-gated potassium channel, TREK-1. Interpretation: Our findings point to an important role of POPDC3 for skeletal muscle function and suggest that pathogenic variants in POPDC3 are responsible for a novel type of autosomal recessive limb girdle muscular dystrophy