[The same agent, no response upon restart: tachyphylaxis with psychotropic medications].

Background: This scoping review focuses on the occurrence of tachyphylaxis, defined as reduced responsiveness upon reinitiating a previously effective medication. This phenomenon is previously documented in antidepressants and mood stabilizers.

Aim: To explore the frequency, treatment strategies, and predictability of tachyphylaxis across all psychotropic medications.

Syndromic Retinitis Pigmentosa.

Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.

A Surface-Active Pt(II) Bis-N-Heterocyclic Carbene (NHC) Complex for Interface-Enhanced Supported Ionic Liquid Phase (SILP) Catalysis.

We present the preparation and investigation of a fluorine-free surface-active bis-N-heterocyclic carbene (NHC) platinum(II) complex - trans-[Pt(mPEGCIm)Cl] - for interface-enhanced supported ionic liquid phase (SILP) catalysis within a group of (mPEG)-substituted ionic liquids (ILs) ([(mPEG)Im][A] ILs). The complex was characterized by means of single-crystal X-ray diffraction (scXRD) analysis and multinuclear (H, C, Pt) NMR spectroscopy, indicating the presence of two almost equimolar syn-anti-rotamers of the square-planar complex in solution. Angle-resolved X-ray photoelectron spectroscopy (ARXPS) revealed pronounced interface-accumulation of trans-[Pt(mPEGCIm)Cl] in IL solutions of [(mPEG)Im][A] (A=I and PF ).

Fish and shellfish allergy: Presentation and management differences in the UK and US-analysis of 945 patients.

Background: Seafood allergy (SA), including allergy to shellfish (crustacean and mollusks) and fish, is among the 4 most common food allergies causing anaphylaxis, but there are limited data showing SA clinical management in different countries.

Objective: We sought to characterize a large cohort of patients with fish and shellfish allergy and to facilitate standardization of future care for this increasingly common allergic disease.

Methods: We performed a retrospective, observational, noninterventional study from 945 patients from 2015 to 2019 in 7 hospitals in the United States and the United Kingdom to evaluate SA.

Minimum inhibitory and bactericidal/fungicidal concentration of commercially available products containing essential oils, zinc gluconate, or 4% chlorhexidine for Malassezia pachydermatis, Pseudomonas aeruginosa, and multi-drug resistant Staphylococcus pseudintermedius canine clinical isolates.

Skin infections are common complications in both humans and animals. Because of the increased incidence of multi-drug resistant (MDR) skin infections, essential oils have been suggested as potential alternatives to the classic antimicrobials. The goal of this study was to evaluate the minimum inhibitory and bactericidal/fungicidal concentrations (MIC and MBC/MFC) of commercially available products containing essential oils, zinc gluconate, or 4% chlorhexidine.

Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies.

Purpose: To describe phenotypic, genotypic, and histopathological features of inherited retinal dystrophies associated with the CRX gene (CRX-RDs).

Design: Retrospective multicenter cohort study including histopathology.

Subjects: Thirty-nine patients from 31 families with pathogenic variants in the CRX gene.

Mutations in , a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.

Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next-generation sequencing panels has a diagnostic yield of about forty percent. In the other 60% of the patients with a clinical diagnosis of ION, the underlying genetic variants remain unknown.

Lithium-discontinuation-induced treatment refractoriness revisited.

Background: Lithium is effective in the long-term treatment of bipolar disorder. Concerns have been raised about non-responsiveness after discontinuation and resuming previously effective lithium prophylaxis. We reviewed the available literature on this so-called lithium-discontinuation-induced treatment refractoriness (LDITR).

Aging-regulated PNUTS maintains endothelial barrier function via SEMA3B suppression.

Age-related diseases pose great challenges to health care systems worldwide. During aging, endothelial senescence increases the risk for cardiovascular disease. Recently, it was described that Phosphatase 1 Nuclear Targeting Subunit (PNUTS) has a central role in cardiomyocyte aging and homeostasis.

Evolution of Surface Tension and Hansen Parameters of a Homologous Series of Imidazolium-Based Ionic Liquids.

In this study, we systematically analyze the surface tension and Hansen solubility parameters (HSPs) of imidazolium-based ionic liquids (ILs) with different anions ([NTf], [PF], [I], and [Br]). These anions are combined with the classical 1-alkyl-3-methyl-substituted imidazolium cations ([CCIm]) and a group of oligoether-functionalized imidazolium cations ([(mPEG)Im]) based on methylated polyethylene glycol (mPEG). In detail, the influences of the length of the alkyl- and the mPEG-chain, the anion size, and the water content are investigated experimentally.

Deep sequencing of candidate genes identified 14 variants associated with smoking abstinence in an ethnically diverse sample.

Despite the large public health toll of smoking, genetic studies of smoking cessation have been limited with few discoveries of risk or protective loci. We investigated common and rare variant associations with success in quitting smoking using a cohort from 8 randomized controlled trials involving 2231 participants and a total of 10,020 common and 24,147 rare variants. We identified 14 novel markers including 6 mapping to genes previously related to psychiatric and substance use disorders, 4 of which were protective (CYP2B6 (rs1175607105), HTR3B (rs1413172952; rs1204720503), rs80210037 on chr15), and 2 of which were associated with reduced cessation (PARP15 (rs2173763), SCL18A2 (rs363222)).

The Analysis of Embryoid Body Formation and Its Role in Retinal Organoid Development.

Within the last decade, a wide variety of protocols have emerged for the generation of retinal organoids. A subset of studies have compared protocols based on stem cell source, the physical features of the microenvironment, and both internal and external signals, all features that influence embryoid body and retinal organoid formation. Most of these comparisons have focused on the effect of signaling pathways on retinal organoid development.

The Road towards Gene Therapy for X-Linked Juvenile Retinoschisis: A Systematic Review of Preclinical Gene Therapy in Cell-Based and Rodent Models of XLRS.

X-linked juvenile retinoschisis (XLRS) is an early-onset progressive inherited retinopathy affecting males. It is characterized by abnormalities in the macula, with formation of cystoid retinal cavities, frequently accompanied by splitting of the retinal layers, impaired synaptic transmission of visual signals, and associated loss of visual acuity. XLRS is caused by loss-of-function mutations in the retinoschisin gene located on the X chromosome (, MIM 30083).

Xanthogranulomatous keratitis in a mixed-breed dog.

Objective: To evaluate the clinical and histopathological features of a case of xanthogranulomatous keratitis in a mixed-breed dog.

Animal: Mixed-breed dog.

Clinical Presentation, Progression, And Procedures: An 11-year-old spayed female mixed-breed dog was presented for mild blepharospasm, corneal cloudiness, and increasing conjunctival hyperemia OD.

Vision on gyrate atrophy: why treat the eye?

In the April issue of this Journal, Boffa and coworkers put forward a new therapeutic approach for Gyrate Atrophy of the Choroid and Retina (GACR; OMIM 258870) (Boffa et al, 2023). The authors propose to apply gene therapy to the liver for GACR, a metabolic disease primarily affecting eyesight due to retinal degeneration. Their vision is enthusiastically supported by a News and Views comment in the same issue (Seker Yilmaz and Gissen, 2023).

Bruch's Membrane Calcification in Pseudoxanthoma Elasticum: Comparing Histopathology and Clinical Imaging.

Purpose: To investigate the histology of Bruch's membrane (BM) calcification in pseudoxanthoma elasticum (PXE) and correlate this to clinical retinal imaging.

Design: Experimental study with clinicopathological correlation.

Subjects And Controls: Six postmortem eyes from 4 PXE patients and 1 comparison eye from an anonymous donor without PXE.

Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis.

Purpose: To date, there is no standard treatment regimen for carbonic anhydrase inhibitors (CAIs) in X-linked retinoschisis (XLRS) patients. This retrospective study aims to evaluate the efficacy of CAIs on visual acuity and cystoid fluid collections (CFC) in XRLS patients in Dutch and Belgian tertiary referral centers.

Design: Retrospective cohort study.

Predictive value of General Movements Assessment for developmental delay at 18 months in children with complex congenital heart disease.

Background: Infants with complex congenital heart disease are at increased risk of impaired fetal brain growth, brain injury, and developmental impairments. The General Movement Assessment (GMA) is a valid and reliable tool to predict cerebral palsy (CP), especially in preterm infants. Predictive properties of the GMA in infants with complex congenital heart disease (CCHD) are unknown.

Self-Assembled Supported Ionic Liquids.

Separation and reuse of the catalytically active metal complexes are persistent issues in homogeneous catalysis. Supported Ionic Liquid Phase (SILP) catalysts, where the catalytic center is dissolved in a thin film of a stable ionic liquid, deposited on a solid support, present a promising alternative. However, the dissolution of the metal center in the film leaves little control over its position and its activity.

Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study.

Purpose: To assess the longitudinal vision-related quality of life among patients with CRB1-associated inherited retinal dystrophies.

Methods: In this longitudinal questionnaire study, the National Eye Institute Visual Function Questionnaire (39 items, NEI VFQ-39) was applied at baseline, two-year follow-up, and 4-year follow-up in patients with pathogenic CRB1 variants. [Correction added on 20 November 2023, after first online publication: The preceding sentence has been updated in this version.

Higher gestational weight gain delays wound healing and reduces expression of long non-coding RNA KLRK1-AS1 in neonatal endothelial progenitor cells.

High gestational weight gain (GWG) is a cardiovascular risk factor and may disturb neonatal endothelial function. Long non-coding RNAs (lncRNAs) regulate gene expression epigenetically and can modulate endothelial function. Endothelial colony forming cells (ECFCs), circulating endothelial precursors, are a recruitable source of endothelial cells and sustain endothelial function, vascular growth and repair.

Development of the data registry for the Cardiac Neurodevelopmental Outcome Collaborative.

Children with congenital heart disease (CHD) can face neurodevelopmental, psychological, and behavioural difficulties beginning in infancy and continuing through adulthood. Despite overall improvements in medical care and a growing focus on neurodevelopmental screening and evaluation in recent years, neurodevelopmental disabilities, delays, and deficits remain a concern. The Cardiac Neurodevelopmental Outcome Collaborative was founded in 2016 with the goal of improving neurodevelopmental outcomes for individuals with CHD and pediatric heart disease.

Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.

Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photoreceptors, followed by the degeneration of cone photoreceptors. As a result of photoreceptor degeneration, affected individuals experience gradual loss of visual function, with primary symptoms of progressive nyctalopia, constricted visual fields and, ultimately, central vision loss. The onset, severity and clinical course of RP shows great variability and unpredictability, with most patients already experiencing some degree of visual disability in childhood.