GABAergic circuit interaction between central amygdala and bed nucleus of the stria terminalis in lipopolysaccharide-induced despair-like behavior.

Hyperexcitability of central amygdala (CeA) induces depressive symptoms. The bed nucleus of the stria terminalis (BNST) receives GABAergic input from the CeA. However, it remains unclear whether the GABAergic neurons in the CeA projecting to BNST contribute to major depression.

Commensal consortia decolonize Enterobacteriaceae via ecological control.

Persistent colonization and outgrowth of potentially pathogenic organisms in the intestine can result from long-term antibiotic use or inflammatory conditions, and may perpetuate dysregulated immunity and tissue damage. Gram-negative Enterobacteriaceae gut pathobionts are particularly recalcitrant to conventional antibiotic treatment, although an emerging body of evidence suggests that manipulation of the commensal microbiota may be a practical alternative therapeutic strategy. Here we isolated and down-selected commensal bacterial consortia from stool samples from healthy humans that could strongly and specifically suppress intestinal Enterobacteriaceae.

Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome.

Background And Hypothesis: Male patients with X-linked Alport syndrome (XLAS) generally develop end-stage kidney disease in early or middle adulthood and show distinct genotype-phenotype correlations. Female patients, however, show various phenotypes ranging from asymptomatic to severe with no genotype-phenotype correlations. However, the factors affecting the severity of XLAS in female patients are unclear.

Multi--Occupancy as an Alternative Definition for the Double -Shell Effect.

Despite the prevalence of first-row transition metal-containing compounds in virtually all areas of chemistry, the accurate modeling of these systems is a known challenge for the theoretical chemistry community. Such a challenge is shown in a myriad of facets; among them are difficulties in defining ground-state multiplicities, disagreement in the results from methods considered highly accurate, and convergence problems in calculations for excited states. These problems cause a scarcity of reliable theoretical data for transition metal-containing systems.

Management of children with obesity at local hospital and impact of COVID-19 pandemic.

This study investigated the status of children with obesity before and after the COVID-19 pandemic, and the effects of lifestyle guidance on weight loss among children in Japan. We analysed the data of patients who visited our hospital after check-ups for obesity and evaluated the efficacy of lifestyle guidance. The patients were divided into groups A, B, and C (year 2011, 2019, and 2021, respectively).

D-amino Acids Ameliorate Experimental Colitis and Cholangitis by Inhibiting Growth of Proteobacteria: Potential Therapeutic Role in Inflammatory Bowel Disease.

Background & Aims: D-amino acids, the chiral counterparts of protein L-amino acids, were primarily produced and utilized by microbes, including those in the human gut. However, little was known about how orally administered or microbe-derived D-amino acids affected the gut microbial community or gut disease progression.

Methods: The ratio of D- to L-amino acids was analyzed in feces and blood from patients with ulcerative colitis (UC) and healthy controls.

Long-term outcome of combination therapy with corticosteroids, mizoribine and RAS inhibitors as initial therapy for severe childhood IgA vasculitis with nephritis.

Background: Patients with severe IgA vasculitis with nephritis (IgAVN) typically receive aggressive therapy as an initial approach. We have consistently performed combination therapy including corticosteroids and immunosuppressants as initial therapy for severe IgAVN over a 20-year-plus period, with only minor changes to the treatment protocol. This study seeks to reveal the efficacy of combination therapy for severe IgAVN.

All reported non-canonical splice site variants in GLA cause aberrant splicing.

Background: Fabry disease is an X-linked lysosomal storage disorder caused by insufficient α-galactosidase A (GLA) activity resulting from variants in the GLA gene, which leads to glycosphingolipid accumulation and life-threatening, multi-organ complications. Approximately 50 variants have been reported that cause splicing abnormalities in GLA. Most were found within canonical splice sites, which are highly conserved GT and AG splice acceptor and donor dinucleotides, whereas one-third were located outside canonical splice sites, making it difficult to interpret their pathogenicity.

Corrigendum to "Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease"Kidney International Reports, Volume 7, Issue 4, April 2022, Pages 857-866.

[This corrects the article DOI: 10.1016/j.ekir.

Diving into the optoelectronic properties of Cu(II) and Zn(II) curcumin complexes: a DFT and wavefunction benchmark.

Context: Curcumin is a popular food additive around the world whose medicinal properties have been known since ancient times. The literature has recently highlighted several biological properties, but besides the health-related usages, its natural yellowish color may also be helpful for light-harvesting applications. This research aims to close a knowledge gap regarding the photophysical description of curcumin and its metallic complexes.

Benchmarking DFT functionals for photophysics of pyranoflavylium cations.

An intense absorption, phosphorescence, a long triplet excited state lifetime and singlet oxygen generation capabilities are characteristics of pyranoflavylium cations, analogues to pyranoanthocyanidins originated in the maturation process of red wine. Such properties make these compounds potential photosensitizers to be applied in photodynamic therapy. In this context, the photophysical processes underlying that treatment critically depend on the electronic structure of the pyranoflavylium molecules.

Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.

Background And Objectives: The evident genotype-phenotype correlation shown by the X-linked Alport syndrome warrants the assessment of the impact of identified gene variants on aberrant splicing. We previously reported that single nucleotide variants (SNVs) in the last nucleotide of exons in COL4A5 cause aberrant splicing. It is known that the nucleotides located 2nd and 3rd to the last nucleotides of exons can also play an essential role in the first step of the splicing process.

Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis.

Background: Approximately 30% of children with steroid-resistant nephrotic syndrome (SRNS) have causative monogenic variants. SRNS represents glomerular disease resulting from various etiologies, which lead to similar patterns of glomerular damage. Patients with SRNS mainly exhibit focal segmental glomerulosclerosis (FSGS).

Geometric interpretation for coupled-cluster theory. A comparison of accuracy with the corresponding configuration interaction model.

Although coupled-cluster theory is well-known for its accuracy, the geometry associated with the manifold of wave functions reached by the coupled-cluster Ansatz has not been deeply explored. In this article, we look for an interpretation for the high accuracy of coupled-cluster theory based on how the manifold of coupled-cluster wave functions is embedded within the space of n-electron wave functions. We define the coupled-cluster and configuration interaction manifolds and measure the distances from the full-configuration interaction (FCI) wave function to these manifolds.

Clinical and pathological investigation of oligomeganephronia.

Background: Oligomeganephronia (OMN) is a rare congenital anomaly involving the kidney and urinary tract, characterized by decreased number and compensatory hypertrophy of the nephron. It is caused by abnormal kidney development during the embryonic period, especially in patients with low birth weight; however, the actual etiology and clinical features remain unknown. We aim to reveal the clinical and pathological characteristics, treatment, and outcome.

Detecting pathogenic deep intronic variants in Gitelman syndrome.

Gitelman syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by loss of function in the SLC12A3 gene (NM_000339.2), which encodes the natrium chloride cotransporter. The detection of homozygous or compound heterozygous SLC12A3 variants is expected in GS, but 18%-40% of patients with clinical GS carry only one mutant allele.

Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants.

Background: Alport syndrome is an inherited disorder characterized by progressive renal disease, variable sensorineural hearing loss, and ocular abnormalities. Although many pathogenic variants in and have been identified in patients with autosomal Alport syndrome, synonymous mutations in these genes have rarely been identified.

Methods: We conducted splicing analysis using Human Splicing Finder (HSF) and Alamut to predict splicing domain strength and disruption of the sites.

Detecting Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease.

Introduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD)- is predominantly caused by frameshift mutations owing to a single-base insertion into the variable number tandem repeat (VNTR) region in . Because of the complexity of the variant hotspot, identification using short-read sequencers (SRSs) is challenging. Although recent studies have revealed the usefulness of long-read sequencers (LRSs), the prevalence of variants in patients with clinically suspected ADTKD remains unknown.

Clear Evidence of Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome.

Background: Pathogenic variants in single genes encoding podocyte-associated proteins have been implicated in about 30% of steroid-resistant nephrotic syndrome (SRNS) patients in children. However, gene biallelic variants have been identified in only seven patients so far, and most are missense variants of unknown significance. Furthermore, no functional analysis had been conducted for all but one of these variants.

The Contribution of Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome.

X-linked Alport syndrome (XLAS) is caused by pathogenic variants in and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities. Recent advances in genetic analysis and further understanding of genotype-phenotype correlations in affected male patients raises the importance of detecting splicing variants in . Aberrant splicing of is caused not only by canonical splice site variants but also non-canonical splice site variants such as deep intronic changes or even substitutions in exons.

Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.

Nephronophthisis is an autosomal-recessive kidney disease that is caused by abnormalities in primary cilia. Nephronophthisis-related ciliopathies (NPHP-RCs) are a common cause of end-stage kidney disease (ESKD) in children and adolescents. NPHP-RCs are often accompanied by extrarenal manifestations, including intellectual disability, retinitis pigmentosa, or polydactyly.

Use of renin-angiotensin system inhibitors as initial therapy in children with Henoch-Schönlein purpura nephritis of moderate severity.

Background: Cases of Henoch-Schönlein purpura nephritis (HSPN) with moderate severity were demonstrated to achieve good prognosis after treatment with renin-angiotensin system (RAS) inhibitors. However, some patients required additional treatment for recurrence after remission. This study aimed to clarify the effect of RAS inhibitors in HSPN cases with moderate severity, including the proportion of cases with recurrence and their response to additional treatment.

Last Nucleotide Substitutions of Exons Cause Aberrant Splicing.

Introduction: is a causative gene of X-linked Alport syndrome (XLAS). Male patients with XLAS with nonsense variants have the most severe phenotypes of early onset end-stage kidney disease (ESKD); those with splicing variants have middle phenotypes and those with missense variants have the mildest phenotypes. Therefore, genotyping for male patients with XLAS can be used to predict kidney prognosis.