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Arora Iti Bellato Alessio Gliga Teodora Ropar Danielle Kochhar Puja Hollis Chris Groom Madeleine 《Journal of autism and developmental disorders》2022,52(2):600-616
Journal of Autism and Developmental Disorders - Slower habituation to repeating stimuli characterises Autism, but it is not known whether this is driven by difficulties with information processing... 相似文献
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Johanna C. Badcock Madeleine E. Graham Georgie Paulik 《Clinical psychology & psychotherapy》2020,27(1):79-86
Determining reliable and clinically significant change is central to evidence‐based practice yet rarely used in routine clinical settings. This paper illustrates these methods in the context of an evaluation of cognitive behaviour therapy for distressing auditory hallucinations (“voices”). We used data from a clinical sample attending Perth Voices Clinic, a transdiagnostic outpatient service for distressing voices, and a previously published reference sample of healthy voice hearers. Our outcomes on the primary measure of voice distress, derived from a previous factor analysis of the Psychotic Symptom Rating Scale‐Auditory Hallucinations subscale, showed that 62.9% of clients were classified as Recovered/Improved, 35.5% were classified as Unchanged, and 0.02% were classified as Deteriorated. Partial support for the validity of these classifications was obtained from the scores on the Depression, Anxiety, Stress Scales (Lovibond & Lovibond, 1995) but not on the Social and Occupational Functional Assessment Scale (Goldman et al., 1992). Clients classified as Recovered showed better emotional functioning on the Depression, Anxiety, Stress Scales compared with those who did not make a clinically significant change in voice distress. A tool is provided to assist practitioners to evaluate whether individual clients have benefited from therapy for distressing voices or not, which can be used to guide future treatment decisions ( https://osf.io/gd9e5/ ). 相似文献
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Paola Bianchi Elisa Fermo Kimberly Lezon-Geyda Eduard J. van Beers Holmes D. Morton Wilma Barcellini Bertil Glader Satheesh Chonat Yaddanapudi Ravindranath Peter E. Newburger Nina Kollmar Jenny M. Despotovic Madeleine Verhovsek Mukta Sharma Janet L. Kwiatkowski Kevin H. M. Kuo Marcin W. Wlodarski Hassan M. Yaish Susanne Holzhauer Heng Wang Joachim Kunz Kathryn Addonizio Hasan Al-Sayegh Wendy B. London Oliver Andres Richard van Wijk Patrick G. Gallagher Rachael F. F. Grace 《American journal of hematology》2020,95(5):472-482
Pyruvate kinase (PK) deficiency is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. This study reports the molecular features of 257 patients enrolled in the PKD Natural History Study. Of the 127 different pathogenic variants detected, 84 were missense and 43 non-missense, including 20 stop-gain, 11 affecting splicing, five large deletions, four in-frame indels, and three promoter variants. Within the 177 unrelated patients, 35 were homozygous and 142 compound heterozygous (77 for two missense, 48 for one missense and one non-missense, and 17 for two non-missense variants); the two most frequent mutations were p.R510Q in 23% and p.R486W in 9% of mutated alleles. Fifty-five (21%) patients were found to have at least one previously unreported variant with 45 newly described mutations. Patients with two non-missense mutations had lower hemoglobin levels, higher numbers of lifetime transfusions, and higher rates of complications including iron overload, extramedullary hematopoiesis, and pulmonary hypertension. Rare severe complications, including lower extremity ulcerations and hepatic failure, were seen more frequently in patients with non-missense mutations or with missense mutations characterized by severe protein instability. The PKLR genotype did not correlate with the frequency of complications in utero or in the newborn period. With ICCs ranging from 0.4 to 0.61, about the same degree of clinical similarity exists within siblings as it does between siblings, in terms of hemoglobin, total bilirubin, splenectomy status, and cholecystectomy status. Pregnancy outcomes were similar across genotypes in PK deficient women. This report confirms the wide genetic heterogeneity of PK deficiency. 相似文献
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Madeleine E. Cunningham Gavin R. Meehan Sophie Robinson Denggao Yao Rhona McGonigal Hugh J. Willison 《Journal of the peripheral nervous system : JPNS》2020,25(2):143-151
In mouse models of acute motor axonal neuropathy, anti‐ganglioside antibodies (AGAbs) bind to motor axons, notably the distal nerve, and activate the complement cascade. While complement activation is well studied in this model, the role of inflammatory cells is unknown. Herein we aimed to investigate the contribution of phagocytic cells including macrophages, neutrophils and perisynaptic Schwann cells (pSCs) to distal nerve pathology. To observe this, we first created a subacute injury model of sufficient duration to allow inflammatory cell recruitment. Mice were injected intraperitoneally with an anti‐GD1b monoclonal antibody that binds strongly to mouse motor nerve axons. Subsequently, mice received normal human serum as a source of complement. Dosing was titrated to allow humane survival of mice over a period of 3 days, yet still induce the characteristic neurological impairment. Behaviour and pathology were assessed in vivo using whole‐body plethysmography and post‐sacrifice by immunofluorescence and flow cytometry. ex vivo nerve‐muscle preparations were used to investigate the acute phagocytic role of pSCs following distal nerve injury. Following complement activation at distal intramuscular nerve sites in the diaphragm macrophage localisation or numbers are not altered, nor do they shift to a pro‐ or anti‐inflammatory phenotype. Similarly, neutrophils are not significantly recruited. Instead, ex vivo nerve‐muscle preparations exposed to AGAb plus complement reveal that pSCs rapidly become phagocytic and engulf axonal debris. These data suggest that pSCs, rather than inflammatory cells, are the major cellular vehicle for axonal debris clearance following distal nerve injury, in contrast to larger nerve bundles where macrophage‐mediated clearance predominates. 相似文献
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