Effective superpotentials for B-branes in Landau-Ginzburg models

We compute the partition function for the topological Landau-Ginzburg B-model on the disk. This is done by treating the worldsheet superpotential perturbatively. We argue that this partition function as a function of bulk and boundary perturbations may be identified with the effective D-brane superpotential in the target spacetime. We point out the relationship of this approach to matrix factorizations. Using these methods, we prove a conjecture for the effective superpotential of Herbst, Lazaroiu and Lerche for the A-type minimal models. We also consider the Landau-Ginzburg theory of the cubic torus where we show that the effective superpotential, given by the partition function, is consistent with the one obtained by summing up disk instantons in the mirror A-model. This is done by explicitly constructing the open-string mirror map.Comment: 57p, 7 figs, harvma

Algorithmic deformation of matrix factorisations

Branes and defects in topological Landau-Ginzburg models are described by matrix factorisations. We revisit the problem of deforming them and discuss various deformation methods as well as their relations. We have implemented these algorithms and apply them to several examples. Apart from explicit results in concrete cases, this leads to a novel way to generate new matrix factorisations via nilpotent substitutions, and to criteria whether boundary obstructions can be lifted by bulk deformations.Comment: 30 page

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons—Leu844, Cys845, Ala846, Leu847, and Gly848—located in the cysteine-serine-rich domain (CSRD). Collectively, these recurrent missense mutations affect ∼0.8% of unrelated NF1 mutation-positive probands in the University of Alabama at Birmingham (UAB) cohort. Major superficial plexiform neurofibromas and symptomatic spinal neurofibromas were more prevalent in these individuals compared with classic NF1-affected cohorts (both p < 0.0001). Nearly half of the individuals had symptomatic or asymptomatic optic pathway gliomas and/or skeletal abnormalities. Additionally, variants in this region seem to confer a high predisposition to develop malignancies compared with the general NF1-affected population (p = 0.0061). Our results demonstrate that these NF1 missense mutations, although located outside the GAP-related domain, may be an important risk factor for a severe presentation. A genotype-phenotype correlation at the NF1 region 844–848 exists and will be valuable in the management and genetic counseling of a significant number of individuals

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Purpose: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors. Methods: A total of 135 individuals from 103 unrelated families, all carrying the constitutional NF1 p.Met992del pathogenic variant and clinically assessed using the same standardized phenotypic checklist form, were included in this study. Results: None of the individuals had externally visible plexiform or histopathologically confirmed cutaneous or subcutaneous neurofibromas. We did not identify any complications, such as symptomatic optic pathway gliomas (OPGs) or symptomatic spinal neurofibromas; however, 4.8% of individuals had nonoptic brain tumors, mostly low-grade and asymptomatic, and 38.8% had cognitive impairment/learning disabilities. In an individual with the NF1 constitutional c.2970_2972del and three astrocytomas, we provided proof that all were NF1-associated tumors given loss of heterozygosity at three intragenic NF1 microsatellite markers and c.2970_297

Post-traumatic stress disorder moderates the relationship between trauma exposure and chronic pain

Background: Trauma exposure and post-traumatic stress disorder (PTSD) are risk factors for chronic pain. Objective: This study investigated how exposure to intentional and non-intentional traumatic events and PTSD are related to pain severity and outcome of treatment in chronic pain patients. Methods: We assessed exposure to potentially traumatizing events, psychiatric diagnosis with structured clinical interview, and pain severity in 63 patients at a secondary multidisciplinary pain clinic at the beginning of treatment, and assessed level of pain at follow up. Exposure to potentially traumatizing events and PTSD were regressed on pain severity at the initial session and at follow up in a set of multiple regression analysis. Results: The participants reported exposure to an average of four potentially traumatizing events, and 32% had PTSD. Exposure to intentional traumatic events and PTSD were significantly associated with more severe pain, and PTSD significantly moderated the relationship between trauma exposure and pain (all p < .05). The treatment programme reduced pain moderately, an effect that was unrelated to trauma exposure and PTSD. Conclusions: Trauma exposure is related to chronic pain in the same pattern as to mental disorders, with intentional trauma being most strongly related to pain severity. PTSD moderated the relationship between trauma exposure and pain. While pain patients with PTSD initially report more pain, they responded equally to specialist pain treatment as persons without PTSD

Patient-reported outcome, clinician-reported outcome, and patient satisfaction with treatment by crisis resolution teams: a multicenter pre-post study of outcome and associated factors in Norway

Abstract Background Crisis resolution teams (CRTs) have become a part of mental health services in many high-income countries. Many studies have investigated the impact of CRTs on acute admissions to inpatient units, but very few studies have investigated patient-reported and clinician-reported outcomes for CRT service users. Our aims were to study patient-reported and clinician-reported outcomes of CRT treatment, how the outcomes were associated with characteristics of the service user and the treatment, and whether outcomes were different across CRTs. Methods The study was a pre-post observational multicenter study of 475 patients receiving treatment from 25 CRTs in urban and rural areas in Norway. There was no control group. Outcomes were change in mental health status reported by service users using CORE-10 and by clinicians using HoNOS. Patient satisfaction was measured using CSQ-8 at the end of the treatment. Components of CRT accessibility and interventions were measured by clinicians reporting details on each session with the service user. CRT model fidelity was measured using the CORE CRT Fidelity Scale version 2. We used paired t-tests to analyze outcomes and linear mixed modeling to analyze associations of the outcomes with the characteristics of service users and the treatment provided. Using independent t-tests, we analyzed differences in outcomes and patient satisfaction between two clusters of CRTs with differences in accessibility. Results The patient-reported outcomes and the clinician-reported outcomes were significantly positive and with a large effect size. Both were significantly positively associated with practical support and medication management and negatively associated with collaboration with mental health inpatient units. Patient satisfaction was high at the end of the treatment. CRTs with higher accessibility had a significantly better clinician-reported outcome, but no significant differences were reported for patient-reported outcomes or patient satisfaction. Conclusions CRT treatment led to improved symptom status as reported by patients and clinicians, as well as high patient satisfaction. Practical support and medication management were the interventions most strongly associated with positive outcomes. Some of the variations in outcomes were at the team level. Patient- and clinician-reported outcomes should be used more in studies on the effect of treatment provided by crisis resolution teams