BackgroundThis naturalistic study assesses the effectiveness of inpatient multidisciplinary treatment of children and adolescents with somatic symptom disorders (SSD) and investigates the role of pain coping strategies and psychiatric comorbidity (anxiety, depression).MethodsSixty children and adolescents (mean age 14.4 years) with SSD who underwent inpatient multidisciplinary treatment were assessed regarding their school attendance, levels of discomfort, coping strategies and psychiatric comorbidity (depression, anxiety) at pretreatment, discharge and 6 months following treatment.ResultsAt discharge, the children and adolescents reported improvements in their level of discomfort, psychiatric comorbidities (anxiety, depression) and pain coping strategies, with medium to large effect sizes. Six months following treatment, the improvements remained stable, including significantly higher school attendance rates (d = 1.6; p < 0.01). Improvement in pain coping was associated with increased school attendance.ConclusionInpatient multidisciplinary treatment is effective in reducing levels of discomfort, psychiatric comorbidity (anxiety, depression), and school absence and in improving coping strategies.
Background: Deciphering the function of the many genes previously classified as uncharacterized "open reading frame" (orf) completes our understanding of cell function and its pathophysiology. Methods: Whole-exome sequencing, yeast 2-hybrid and transcriptome analyses together with molecular characterization are used here to uncover the function of the C2orf69 gene. Results: We identified loss-of-function mutations in the uncharacterized C2orf69 gene in eight individuals with brain abnormalities involving hypomyelination and microcephaly, liver dysfunction and recurrent autoinflammation. C2orf69 contains an N-terminal signal peptide that is required and sufficient for mitochondrial localization. Consistent with mitochondrial dysfunction, patients showed signs of respiratory chain defect and a CRISPR-Cas9 knockout cell model of C2orf69 had similar respiratory chain defects. Patient-derived cells revealed alterations in immunological signaling pathways. Deposits of PAS-positive material in tissues from affected individuals together with decreased glycogen branching enzyme 1 (GBE1) activity indicated an additional impact of C2orf69 on glycogen metabolism.
Conclusion:Our study identifies C2orf69 as an important regulator of human mitochondrial function and suggests an additional influence on other metabolic pathways.
We conclude that viral gastroenteritis seemed to increase the number of daily opportunities for hand hygiene and did significantly increase compliance. In particular, this effect was seen after patient contact. Further research might address the awareness of undiagnosed transmissible diseases in order to prevent cross-transmissions.
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