The Role of Registered Dietitians in Cancer Palliative Care: Responsibilities, Challenges, and Interdisciplinary Collaboration-A Cross-Sectional Survey.

Registered dietitians (RDs) in palliative care help maintain patients' quality of life by providing personalized nutritional support that alleviates eating-related distress. This study aimed to clarify the role of RDs in palliative care by examining their responsibilities and challenges in caring for cancer patients. A nationwide mailed survey was conducted in 2022, focusing on RDs involved in cancer palliative care.

A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.

Phosphoglycerate kinase (PGK) deficiency is an X-linked disorder characterized by a combination of hemolytic anemia, myopathy, and brain involvement. We herein report a Japanese man who had several episodes of rhabdomyolysis but was training strenuously to be a professional boxer. Mild hemolytic anemia was noted.

High-fat diet increases labial groove formation in maxillary incisors and is related to aging in C57BL/6 mice.

Objectives: The aim of this study was to explore the relationship between the consumption of a high-fat diet and aging-dependent formation of maxillary incisor grooves in C57BL/6 mice, and to identify putative maxillary incisor groove-related genes.

Methods: We fed 2-month-old and 16-month-old C57BL/6 mice on either a chow diet or a high-fat diet for three months and observed changes in maxillary incisor grooves. We examined tissue sections of the maxillary incisors with grooves and carried out transcriptome analysis of the apical tissue fragments of maxillary incisors with/without grooves.

A maternal high-fat diet may accelerate adipo-immunologic aging in offspring.

Aim: Maternal obesity and improper nutrition predispose offspring to chronic metabolic diseases. Although the frequency of these diseases increases with aging, the effect of a maternal high-fat diet on aged offspring remains elusive.

Main Methods: C57BL/6J female mice were fed a high-fat (HF) diet or a control (CON) diet and then mated.

Identification of genetic risk factors of aggressive periodontitis using genomewide association studies in association with those of chronic periodontitis.

To identify the genetic risk factors for aggressive periodontitis (AgP), it is important to understand the progression and pathogenesis of AgP. The purpose of this review was to summarize the genetic risk factors for AgP identified through a case-control genomewide association study (GWAS) and replication study. The initial studies to identify novel AgP risk factors were potentially biased because they relied on previous studies.

The Influence of LPS-Induced Maternal Inflammation on Postnatal Collagen-Induced Arthritis.

Maternal health and nutritional status influence offspring health and the diseases that may develop in them. The effects of maternal inflammation on offspring from the perspective of the inflammatory response and immune changes are not fully understood. We hypothesized that maternal inflammation modulates immune and metabolic functions, affecting the pathophysiology of inflammatory diseases in offspring.

Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.

Background: Medullary cystic kidney disease Type 1 is an autosomal dominant tubulointerstitial kidney disease (ADTKD). Recently, mucin 1 (MUC1) was identified as a causal gene of medullary cystic kidney disease (ADTKD-MUC1). However, the MUC1 mutation was found to be a single cytosine insertion in a single copy of the GC-rich variable number of tandem repeats (VNTRs), which are very difficult to analyze by next-generation sequencing.

Effects of in vitro heat shock on immune cells in diet-induced obese mice.

Obesity has been associated with impaired immune responses and inflammation. The mechanisms underlying these immune disturbances in obesity are not yet clarified. This study investigated the effects of in vitro heat shock (HS) on immune cells from the point of view of thymocyte apoptosis and T-cell mitogen-stimulated splenocyte cytokine production as well as the heat shock protein 70 (HSP70) protein levels in diet-induced obese mice to explore a possible association between the disturbance of T cell immunity and HS response in obesity.

Inducing maternal inflammation promotes leptin production in offspring but does not improve allergic symptoms in a mouse model of allergic rhinitis.

Aims: The intrauterine environment is considered to affect immunological development in fetus, leading to an increased risk of developing allergy. In particular, maternal lipopolysaccharides (LPS) administration might regulate the development of allergic disease in offspring. Several studies have shown that being obese relates to a higher prevalence of allergic diseases compared to normal weight.

Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.

Mucopolysaccharidoses (MPS) are a group of genetic deficiencies of lysosomal enzymes that catabolize glycosaminoglycans (GAG). Here we describe a novel MPS-like disease caused by a specific mutation in the VPS33A gene. We identified several Yakut patients showing typical manifestations of MPS: coarse facial features, skeletal abnormalities, hepatosplenomegaly, respiratory problems, mental retardation, and excess secretion of urinary GAG.

A Putative Association of a Single Nucleotide Polymorphism in GPR126 with Aggressive Periodontitis in a Japanese Population.

Periodontitis is an inflammatory disease causing loss of tooth-supporting periodontal tissue. Disease susceptibility to the rapidly progressive form of periodontitis, aggressive periodontitis (AgP), appears to be influenced by genetic risk factors. To identify these in a Japanese population, we performed whole exome sequencing of 41 unrelated generalized or localized AgP patients.

HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families.

In the search for sequence variants underlying disease, commonly applied filtering steps usually result in a number of candidate variants that cannot further be narrowed down. In autosomal recessive families, disease usually occurs only in one generation so that genetic linkage analysis is unlikely to help. Because homozygous recessive mutations tend to be inherited together with flanking homozygous variants, we developed a statistical method to detect pathogenic variants in autosomal recessive families: We look for differences in patterns of homozygosity around candidate variants between patients and control individuals and expect that such differences are greater for pathogenic variants than random candidate variants.

Leveling the Playing Field in Homozygosity Mapping Using Map Distances.

Studies of linkage disequilibrium (LD) and its variation in the genome are of central importance for understanding evolutionary history, population structure, and selective sweeps. Extreme forms of the latter may result in runs of homozygosity (ROH). In human gene mapping, long ROHs are the basis for homozygosity mapping (HM) with length measured in terms of Mb (10 base pairs physical distance).

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing.

A major challenge in current exome sequencing in autosomal recessive (AR) families is the lack of an effective method to prioritize single-nucleotide variants (SNVs). AR families are generally too small for linkage analysis, and length of homozygous regions is unreliable for identification of causative variants. Various common filtering steps usually result in a list of candidate variants that cannot be narrowed down further or ranked.

Early detection of vulnerable atherosclerotic plaque for risk reduction of acute aortic rupture and thromboemboli and atheroemboli using non-obstructive angioscopy.

The mortality rate due to rupture of aortic dissection and aortic aneurysm is approximately 90%. Acute aortic rupture can be fatal prior to hospitalization and has proven difficult to diagnose correctly or predict. The in-hospital mortality rate of ruptured aortic aneurysm ranges from 53 to 66%.

Quantitative analysis of coronary vessels with optimized intracoronary CT number.

Background: Variability in intracoronary computed tomography (CT) number may influence vessel quantification. We confirmed the feasibility of a novel method for measuring vessel diameter and area using coronary CT angiography (CCTA) with an optimized intracoronary CT number, 350 HU.

Methods: We performed intravascular ultrasound (IVUS) imaging in 52 patients with significant stenosis detected by coronary CT angiography targeting 350 HU using a CT number-controlling system.

CT number-controlling system for reproducibility of intracoronary CT number on follow-up coronary CT angiography.

Background: Coronary computed tomography angiography (CCTA) may be useful for noninvasive follow-up; however, evaluation of coronary stenosis and CT number of plaque may be inaccurate under different vessel enhancement of contrast media. We examined the reproducibility of the CT number of repeat CCTA using our original CT number-controlling system (CTN-CS), which selects contrast level by a multiple regression equation using body surface area and peak CT number and peak time on timing bolus and during CCTA.

Methods And Results: One hundred seventy-two patients who underwent serial CCTA were prospectively and randomly assigned to 3 groups.

Coronary computed tomography angiography using ultra-low-dose contrast media: radiation dose and image quality.

To analyze the invasiveness and image quality of coronary CT angiography (CCTA) with 80 kV. We enrolled 181 patients with low body weight and low calcium level. Of these, 154 patients were randomly assigned to 1 of 3 groups: 280 HU/80 kV (n = 51); 350 HU/80 kV (n = 51); or 350 HU/120 kV (n = 52).

Controlling intracoronary CT number for coronary CT angiography.

Background: Controlling intracoronary computed tomography (CT) number for coronary CT angiography (CCTA) has been difficult.

Objective: The study assessed whether intracoronary CT number of CCTA could be estimated.

Methods: One hundred twenty six patients were randomly assigned to either CCTA with 30 mL of contrast media (CM) following 5 mL of CM at timing bolus or CCTA with 50 mL of CM following 10 mL of CM at timing bolus.

Visceral abdominal fat accumulation predicts the progression of noncalcified coronary plaque.

Background: Excess visceral abdominal tissue (VAT) is more strongly associated with risk factors of coronary artery disease (CAD) than body mass index (BMI) or waist circumference. However, whether adding VAT measurements to CAD risk factors provides better risk assessment for CAD progression has not been fully evaluated.

Methods And Results: This prospective cohort study comprised 553 CAD patients with coronary plaque with ≤50% coronary stenosis as assessed by computed tomography (CT) angiography.

Serum cystatin C is associated with early stage coronary atherosclerotic plaque morphology on multidetector computed tomography.

Objective: Cystatin C, a novel marker of kidney function, has been reported to be a predictor of adverse cardiovascular outcomes in patients without established chronic kidney disease. However, the relationship between serum cystatin C concentrations and early stage coronary atherosclerotic plaque morphology among patients with preserved kidney function has not been fully evaluated.

Methods And Results: 405 outpatients with early coronary artery disease with estimated glomerular filtration rate (eGFR) ≥ 60ml/min/1.