“I'm not a patient,I'm a person”: The Experiences of Individuals With Intellectual Disabilities and Challenging Behavior—A Thematic Synthesis of Qualitative Studies

Individuals with intellectual disabilities (ID) and challenging behavior often have complex care needs and may be reliant on care support services. This thematic synthesis examines published qualitative research on the experiences of individuals with ID in relation to received service supports and interventions. Seventeen studies met criteria. Four themes emerged: (1) Imbalance of power, (2) Causal attributions about challenging behavior, (3) Experiences of restrictive interventions, and (4) Opportunities for improvement: proactive interventions. The accumulative stressors of living in a residential placement were regarded as a cause of continued challenging behaviors. The impersonal attitude of support staff was regarded as a major contributory factor. The findings can inform service providers about how best to support individuals with ID and challenging behavior.     

The neural fate of neutral information in emotion‐enhanced memory

In this study, we report evidence that neural activity reflecting the encoding of emotionally neutral information in memory is reduced when neutral and emotional stimuli are intermixed during encoding. Specifically, participants studied emotional and neutral pictures organized in mixed lists (in which emotional and neutral pictures were intermixed) or in pure lists (only‐neutral or only‐emotional pictures) and performed a recall test. To estimate encoding efficiency, we used the Dm effect, measured with event‐related potentials. Recall for neutral items was lower in mixed compared to pure lists and posterior Dm activity for neutral items was reduced in mixed lists, whereas it remained robust in pure lists. These findings might be caused by an asymmetrical competition for attentional and working memory resources between emotional and neutral information, which could be a major determinant of emotional memory effects.     

Cytokine profiles linked to fatal outcome in infective prosthetic valve endocarditis

Infective endocarditis is a disease normally of bacterial cause which affects the endocardic tissue, specifically the valves (native or prosthetic). It is a serious illness and mortality rates remain high, ranging between 20% and 40%. Previous reports have evidenced the potential role of cytokines in the diagnosis of this disease, but no information is available on their relationship with outcome. We recruited 26 consecutive patients with late prosthetic valve endocarditis requiring surgical treatment according to Duke criteria. Eight cytokines were measured in plasma in the first 24 h following diagnosis by using a Bio‐Rad multiplex assay. Levels of IL‐6, IL‐8 and interferon gamma (IFN‐γ) were higher in non survivors. Receiver operating characteristic curve analysis evidenced that IL‐6, IL‐8 and IFN‐γ behaved as good diagnostic tests for identifying those patients with fatal outcome (area under the curve, CI 95%, p): IL‐6: [0.81 (0.61–1.00) 0.012]; IL‐8 [0.76 (0.56–0.96) 0.035]; IFN‐γ [0.79 (0.59–0.99) 0.021]. Levels of IL‐6, IL‐8 and IFN‐γ correlated positively between them, indicating that they are produced as consequence of a simultaneous response to the infection. Our findings support the participation of IL‐6, IL‐8 and IFN‐γ in the events linked to fatal outcome in infective prosthetic valve endocarditis.     

Successful Treatment of Congenital Erythropoietic Porphyria Using Matched Unrelated Hematopoietic Stem Cell Transplantation

Congenital erythropoietic porphyria (CEP), or Günther's disease, is an inborn error of metabolism produced by a deficiency of uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthesis pathway. This enzymatic defect induces the accumulation of isomer I porphyrins in erythrocytes, skin, and tissues, producing various clinical manifestations. Severe cases are characterized by extreme photosensitivity, causing scarring and mutilations, and by hemolytic anemia, reducing life expectancy. CEP is caused by mutations in the UROS gene, and one of the most severe forms of the disease is associated with a cysteine to arginine substitution at residue 73 of the protein (C73R). CEP has been successfully treated only by the transplantation of hematopoietic precursors. We report the case of a male infant with severe postdelivery symptoms diagnosed with CEP and found to be homozygous for the C73R mutation. He underwent successful allogeneic bone marrow transplantation from a matched unrelated donor at 7 months of age. The hemolytic anemia was corrected and the porphyrin overproduction was significantly reduced. The patient remained asymptomatic after 1 year. This new case confirms that patients with severe CEP can benefit from early postnatal hematopoietic stem cell transplantation.