Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

Importance: Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy.

Objective: To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles.

Data Sources: Literature data, data from 2 European centers, and a new study.

Understanding "patient deterioration" in psychotherapy from depressed patients' perspectives: A mixed methods multiple case study.

Objective: This study scrutinizes the meaning of deterioration in psychotherapy beyond the widely used statistical definition of reliable symptom increase pre-to-post treatment.

Method: An explanatory sequential mixed-methods multiple case study was conducted, combining quantitative pre-post outcome evaluation of self-reported depression symptoms and qualitative analysis of patients' interviews. In a Randomized Controlled Study on the treatment of Major Depression, three patients showing reliable increase in symptom severity on the BDI-II pre-to-post therapy were selected.

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further light on the missing heritability of ABCA4-associated retinopathy by analyzing a large cohort of macular dystrophy probands.

Flexor carpi radialis tendon tear due to scaphoid osteoid osteoma: A case report.

Osteoid osteoma is a benign osteoblastic tumor with a low incidence. Due to its uncommon and often confusing clinical presentation, accurate diagnosis is frequently significantly delayed. We report a case of a 56-year old right-handed woman with a history of increasing pain in her right scaphotrapeziotrapezoidal (STT) joint and distal flexor carpi radialis (FCR).

Three- instead of two-dimensional evaluation of key parameters alters the choice of the lowest instrumented vertebra in Lenke 1 and 2 AIS patients.

Purpose: Treatment of AIS, a three-dimensional spinal (3D) deformity, is guided by a two-dimensional (2D) evaluation. Novel 3D approaches that address the 2D limitations have not been adopted in AIS care due to their lengthy and complex 3D reconstruction procedures. This study aims to introduce a simple 3D method that translates the 2D key parameters (Stable vertebra (SV), Lenke lumbar modifier, Neutral vertebra (NV)) into 3D and to quantitively compare these 3D corrected parameters to the 2D assessment.

The CLE33 peptide represses phloem differentiation via autocrine and paracrine signaling in Arabidopsis.

Plant meristems require a constant supply of photoassimilates and hormones to the dividing meristematic cells. In the growing root, such supply is delivered by protophloem sieve elements. Due to its preeminent function for the root apical meristem, protophloem is the first tissue to differentiate.

Additive efficacy of a bispecific anti-TNF/IL-6 nanobody compound in translational models of rheumatoid arthritis.

Rheumatoid arthritis (RA) is one of the most common autoimmune diseases affecting primarily the joints. Despite successful therapies including antibodies against tumor necrosis factor (TNF) and interleukin-6 (IL-6) receptor, only 20 to 30% of patients experience remission. We studied whether inhibiting both TNF and IL-6 would result in improved efficacy.

Impact of fatigue on anaesthesia providers: a scoping review.

Background: Recently, fatigue has received more attention as a workplace hazard. This scoping review focuses on fatigue in anaesthesia providers. We explore the prevalence of fatigue in anaesthesia providers, and we examine how fatigue impacts their performance.

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.

Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their population frequencies and penetrances are unknown. An example of this is Stargardt disease (STGD1), a frequent recessive retinal disease caused by bi-allelic pathogenic variants in ABCA4. In this cross-sectional study, 1,619 ABCA4 variants from 5,579 individuals with STGD1 were collected and categorized by (1) severity based on statistical comparisons of their frequencies in STGD1-affected individuals versus the general population, (2) their observed versus expected homozygous occurrence in STGD1-affected individuals, (3) their occurrence in combination with established mild alleles in STGD1-affected individuals, and (4) previous functional and clinical studies.

A large scale mass spectrometry-based histone screening for assessing epigenetic developmental toxicity.

Toxicoepigenetics is an emerging field that studies the toxicological impact of compounds on protein expression through heritable, non-genetic mechanisms, such as histone post-translational modifications (hPTMs). Due to substantial progress in the large-scale study of hPTMs, integration into the field of toxicology is promising and offers the opportunity to gain novel insights into toxicological phenomena. Moreover, there is a growing demand for high-throughput human-based in vitro assays for toxicity testing, especially for developmental toxicity.

Understanding the root xylem plasticity for designing resilient crops.

Xylem is the main route for transporting water, minerals and a myriad of signalling molecules within the plant. With its onset during early embryogenesis, the development of the xylem relies on hormone gradients, the activity of unique transcription factors, the distribution of mobile microRNAs, and receptor-ligand pathways. These regulatory mechanisms are often interconnected and together contribute to the plasticity of this water-conducting tissue.

Breast cancer incidence by age at discovery of mammographic abnormality in women participating in French organized screening campaigns.

Objective: Statistical modeling was already predicted the occurrence/prognosis of breast cancer from previous radiological findings. This study predicts the breast cancer risk by the age at discovery of mammographic abnormality in the French breast cancer screening program.

Study Design: This was a cohort study.

Exploring high pressure nebulization of Pluronic F127 hydrogels for intraperitoneal drug delivery.

Peritoneal metastasis is an advanced cancer type which can be treated with pressurized intraperitoneal aerosol chemotherapy (PIPAC). Here, chemotherapeutics are nebulized under high pressure in the intraperitoneal (IP) cavity to obtain a better biodistribution and tumor penetration. To prevent the fast leakage of chemotherapeutics from the IP cavity, however, nebulization of controlled release formulations is of interest.

Extending Blatt's two-polarity model of personality development to dissociative identity disorder: a theory-building case study.

In this theory-building case study, we investigate Blatt's two-polarity model of personality development according to which psychopathology is a consequence of an unbalance between the two developmental lines of interpersonal relatedness and self-definition. Anaclitic psychopathology, such as schizophrenia, histrionic, dependent, and borderline personality disorders, is associated with an excessive and rigid emphasis on interpersonal relatedness. In this theory-building case study, we examine whether this model can be extended to dissociative identity disorder (DID).

What too strict a method obscures about the validity of outcome measures.

To assess the outcome of psychotherapeutic treatments, psychotherapy researchers often compare pre- and post-treatment scores on self-report outcome measures. In this paper, the common assumption is challenged that pre-to-post decreasing and increasing outcome scores are indicative of successful and failed therapies, respectively. The outcome of 29 psychotherapeutic treatments was evaluated by means of quantitative analysis of pre- and post-treatment scores on commonly used outcome measures (such as the Symptom Checklist-90-R, the Inventory of Interpersonal Problems, and the General Health Questionnaire-12), as well as through consensual qualitative research.

The Influence of Interpersonal Patterns on the Therapy Process in a Case of Childhood Trauma.

Research concerning the influence of core interpersonal patterns related to childhood trauma on the therapeutic process is scarce. We investigated interpersonal patterns at the start of treatment, changes in interpersonal patterns as treatment progressed, and the change process in a mixed-methods single case study of a supportive-expressive psychodynamic psychotherapy with a 33-year-old female with a history of childhood trauma. The patient showed a pervasive inability to open up towards others throughout the entire treatment, which is closely associated with others' actual or anticipated rejection, disrespect and disinterest.

Interpersonal dynamics and therapeutic relationship in patients with functional somatic syndromes: A metasynthesis of case studies.

Patients with functional somatic syndromes (FSS) often display troubled relationships with health care providers, psychotherapists, and significant others. Research shows that patients' history of trauma, attachment disturbances, and mentalization deficits may result in the emergence of maladaptive interpersonal patterns, which may later contribute to the onset and maintenance of FSS, "doctor hopping," and dropout in psychotherapy. As the nature and therapeutic consequences of such maladaptive interpersonal patterns in FSS cannot be understood sufficiently by quantitative methods alone, there is a need for in-depth qualitative research.

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Importance: The mechanisms behind the phenotypic variability and reduced penetrance in autosomal recessive Stargardt disease (STGD1), often a blinding disease, are poorly understood. Identification of the unknown disease modifiers can improve patient and family counseling and provide valuable information for disease management.

Objective: To assess the association of incompletely penetrant ABCA4 alleles with sex in STGD1.

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.

Noncanonical splice-site mutations are an important cause of inherited diseases. Based on in vitro and stem-cell-based studies, some splice-site variants show a stronger splice defect than expected based on their predicted effects, suggesting that other sequence motifs influence the outcome. We investigated whether splice defects due to human-inherited-disease-associated variants in noncanonical splice-site sequences in , , and could be rescued by strengthening the splice site on the other side of the exon.

Change processes underlying "good outcome": A qualitative study on recovered and improved patients' experiences in psychotherapy for major depression.

Exploring change processes underlying "good outcome" in psychotherapy for major depression. We examined the perspectives of patients who "recovered" and "improved" (Jacobson & Truax) following time-limited CBT and PDT. In the context of an RCT on the treatment of major depression, patients were selected based on their pre-post outcome scores on the BDI-II: we selected 28 patients who recovered and 19 who improved in terms of depressive symptoms.

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.

Purpose: To investigate the role of two deep-intronic ABCA4 variants, that showed a mild splice defect in vitro and can occur on the same allele as the low penetrant c.5603A>T, in Stargardt disease (STGD1).

Methods: Ophthalmic data were assessed of 18 STGD1 patients who harbored c.

Colorectal cancer fecal screening test completion after age 74, sources and outcomes in French program.

Background: Elderly patients aged at least 75 years old (Elderly_75), represent 45% of colorectal cancer (CRC) incidence. As others, the French Colorectal Cancer Screening Program (CRCSP) does not include Elderly_75. To date, there is little evidence to justify stopping screening at 74 years of age.

Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.

Pathogenic variants in the ATP-binding cassette transporter A4 (ABCA4) gene cause a continuum of retinal disease phenotypes, including Stargardt disease. Noncanonical splice site (NCSS) and deep-intronic variants constitute a large fraction of disease-causing alleles, defining the functional consequences of which remains a challenge. We aimed to determine the effect on splicing of nine previously reported or unpublished NCSS variants, one near exon splice variant and nine deep-intronic variants in ABCA4, using in vitro splice assays in human embryonic kidney 293T cells.