| 1. |
- Fluckiger, Christoph, et al.
(författare)
-
The Reciprocal Relationship Between Alliance and Early Treatment Symptoms: A Two-Stage Individual Participant Data Meta-Analysis
- 2020
-
Ingår i: Journal of Consulting and Clinical Psychology. - : AMER PSYCHOLOGICAL ASSOC. - 0022-006X .- 1939-2117. ; 88:9, s. 829-843
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: Even though the early alliance has been shown to robustly predict posttreatment outcomes, the question whether alliance leads to symptom reduction or symptom reduction leads to a better alliance remains unresolved. To better understand the relation between alliance and symptoms early in therapy, we meta-analyzed the lagged session-by-session within-patient effects of alliance and symptoms from Sessions I to 7. Method: We applied a 2-stage individual participant data meta-analytic approach. Based on the data sets of 17 primary studies from 9 countries that comprised 5,350 participants, we first calculated standardized session-by-session within-patient coefficients. Second, we meta-analyzed these coefficients by using random-effects models to calculate omnibus effects across the studies. Results: In line with previous meta-analyses, we found that early alliance predicted posttreatment outcome. We identified significant reciprocal within-patient effects between alliance and symptoms within the first 7 sessions. Cross-level interactions indicated that higher alliances and lower symptoms positively impacted the relation between alliance and symptoms in the subsequent session. Conclusion: The findings provide empirical evidence that in the early phase of therapy. symptoms and alliance were reciprocally related to one other, often resulting in a positive upward spiral of higher alliance/lower symptoms that predicted higher alliances/lower symptoms in the subsequent sessions. Two-stage individual participant data meta-analyses have the potential to move the field forward by generating and interlinking well-replicable process-based knowledge.
|
|
| 2. |
- Hedberg, Carola, 1969, et al.
(författare)
-
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations
- 2014
-
Ingår i: Journal of Neurology. - : Springer. - 0340-5354 .- 1432-1459. ; 261:5, s. 870-876
-
Tidskriftsartikel (refereegranskat)abstract
- We investigated three unrelated patients with tubular-aggregate myopathy and slowly progressive muscle weakness manifesting in the first years of life. All patients showed type 1 muscle fiber predominance and hypotrophy of type 2 fibers. Tubular aggregates were abundant. In all three patients mutations were identified in the gene STIM1, and the mutations were found to be de novo in all patients. In one of the patients the mutation was identified by exome sequencing. Two patients harbored the previously described mutation c.326A > G p.(His109Arg), while the third patient had a novel mutation c.343A > T p.(Ile115Phe). Taking our series together with previously published cases, the c.326A > G p.(His109Arg) seems to be a hotspot mutation that is characteristically related to early onset muscle weakness.
|
|
| 3. |
- Palmio, Johanna, et al.
(författare)
-
Hereditary myopathy with early respiratory failure: occurrence in various populations
- 2014
-
Ingår i: Journal of Neurology, Neurosurgery and Psychiatry. - : BMJ. - 1468-330X .- 0022-3050. ; 85:3, s. 345-353
-
Tidskriftsartikel (refereegranskat)abstract
- Objective Several families with characteristic features of hereditary myopathy with early respiratory failure (HMERF) have remained without genetic cause. This international study was initiated to clarify epidemiology and the genetic underlying cause in these families, and to characterise the phenotype in our large cohort. Methods DNA samples of all currently known families with HMERF without molecular genetic cause were obtained from 12 families in seven different countries. Clinical, histopathological and muscle imaging data were collected and five biopsy samples made available for further immunohistochemical studies. Genotyping, exome sequencing and Sanger sequencing were used to identify and confirm sequence variations. Results All patients with clinical diagnosis of HMERF were genetically solved by five different titin mutations identified. One mutation has been reported while four are novel, all located exclusively in the FN3 119 domain (A150) of A-band titin. One of the new mutations showed semirecessive inheritance pattern with subclinical myopathy in the heterozygous parents. Typical clinical features were respiratory failure at mid-adulthood in an ambulant patient with very variable degree of muscle weakness. Cytoplasmic bodies were retrospectively observed in all muscle biopsy samples and these were reactive for myofibrillar proteins but not for titin. Conclusions We report an extensive collection of families with HMERF with five different mutations in exon 343 of TTN, which establishes this exon as the primary target for molecular diagnosis of HMERF. Our relatively large number of new families and mutations directly implies that HMERF is not extremely rare, not restricted to Northern Europe and should be considered in undetermined myogenic respiratory failure.
|
|
| 4. |
- Savarese, Marco, et al.
(författare)
-
Genotype-phenotype correlations in recessive titinopathies.
- 2020
-
Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 22:12, s. 2029-2040
-
Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy patients reported to date and (2) to evaluate genotype-phenotype correlations in this cohort.METHODS: We analyzed clinical and genetic data in a cohort of patients with biallelic pathogenic or likely pathogenic TTN variants. The cohort included both previously reported cases (100 patients from 81 unrelated families) and unreported cases (23 patients from 20 unrelated families).RESULTS: Overall, 132 causative variants were identified in cohort members. More than half of the cases had hypotonia at birth or muscle weakness and a delayed motor development within the first 12 months of life (congenital myopathy) with causative variants located along the entire gene. The remaining patients had a distal or proximal phenotype and a childhood or later (noncongenital) onset. All noncongenital cases had at least one pathogenic variant in one of the final three TTN exons (362-364).CONCLUSION: Our findings suggest a novel association between the location of nonsense variants and the clinical severity of the disease.
|
|
| 5. |
|
|
| 6. |
- Visuttijai, Kittichate, et al.
(författare)
-
Glycogenin is dispensable for glycogen synthesis in human muscle and glycogenin deficiency causes polyglucosan storage.
- 2020
-
Ingår i: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 105:2, s. 557-566
-
Tidskriftsartikel (refereegranskat)abstract
- To investigate the importance of glycogenin-1 and glycogenin-2 for glycogen synthesis in skeletal and cardiac muscle.Glycogenin-1 and glycogenin-2 expression was analyzed by western blot, mass spectrometry, and immunohistochemistry in liver, heart, and skeletal muscle from controls and in skeletal and cardiac muscle from patients with glycogenin-1 deficiency.Both glycogenin-1 and glycogenin-2 were found to be expressed in liver, but only glycogenin-1 was identified in heart and skeletal muscle from controls. In patients with truncating GYG1 mutations, neither glycogenin-1 nor glycogenin-2 was expressed in skeletal muscle. However, non-functional glycogenin-1 but not glycogenin-2 was identified in cardiac muscle from patients with cardiomyopathy due to GYG1 missense mutations. By immunohistochemistry, the mutated glycogenin-1 co-localized with the storage of glycogen and polyglucosan in cardiomyocytes.Glycogen can be synthesised in the absence of glycogenin, and glycogenin-1 deficiency is not compensated for by upregulation of functional glycogenin-2. Absence of glycogenin-1 leads to focal accumulation of glycogen and polyglucosan in skeletal muscle fibers. Expression of mutated glycogenin-1 in the heart is deleterious, and it leads to storage of abnormal glycogen and cardiomyopathy.
|
|
