Incidentally Detected Situs Ambiguous in Adults

Situs ambiguous is rare congenital anomaly in adults. In 2 adult patients who admitted for different cardiac problems, situs ambiguous with polysplenia was detected. A 42-year-old male admitted for radio frequent catheter ablation of atrial fibrillation, and he had left-sided inferior vena cava (IVC), hepatic segment of IVC interruption with hemiazygos continuation, multiple spleens and intestinal malrotation. And in a 52-year-old female case who was hospitalized due to infective endocarditis after implanting pacemaker for sick sinus syndrome, multiple spleens, left-sided stomach, bilateral liver with midline gallbladder, and left-sided IVC were found. Those findings were consistent with situs ambiguous with polysplenia, but their features were distinctive

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.

KIF1A is a brain-specific anterograde motor protein that transports cargoes towards the plus-ends of microtubules. Many variants of the KIF1A gene have been associated with neurodegenerative diseases and developmental delay. Homozygous mutations of KIF1A have been identified in a recessive subtype of hereditary spastic paraplegia (HSP), SPG30. In addition, KIF1A mutations have been found in pure HSP with autosomal dominant inheritance. Here we report the first case of familial complicated HSP with a KIF1A mutation transmitted in autosomal dominant inheritance. A heterozygous p.T258M mutation in KIF1A was found in a Korean family through targeted exome sequencing. They displayed phenotypes of mild intellectual disability with language delay, epilepsy, optic nerve atrophy, thinning of corpus callosum, periventricular white matter lesion, and microcephaly. A structural modeling revealed that the p.T258M mutation disrupted the binding of KIF1A motor domain to microtubules and its movement along microtubules. Assays of peripheral accumulation and proximal distribution of KIF1A motor indicated that the KIF1A motor domain with p.T258M mutation has reduced motor activity and exerts a dominant negative effect on wild-type KIF1A. These results suggest that the p.T258M mutation suppresses KIF1A motor activity and induces complicated HSP accompanying intellectual disability transmitted in autosomal dominant inheritance. © The Author(s) 20171

Biodegradable magnesium alloy (WE43) in bone-fixation plate and screw

The purpose of the present study was to evaluate the mechanical strength and the absorption rate of WE43 material and to develop an absorbable metallic plate and screw for craniofacial application. The extruded WE43 plate and screw were evaluated using a LeFort I osteotomy canine model of 10 beagle dogs. Animals were divided into two groups: five dogs in the experimental group and five dogs in the control group. mu CT was acquired at 4, 12, and 24 weeks. At 24 weeks after the operation, all animals were sacrificed, and histologic evaluation was performed. Swelling and gas formation were observed in three dogs in the experimental groups at 8 weeks. From 12 weeks, infraorbital fistula and inflammation were observed in three dogs in the experimental group, which gradually decreased and disappeared at 24 weeks. Other two dogs showed less gas formation at 12 weeks. The plates were completely absorbed, and gas formation was not observed at 24 weeks in these two dogs. New bone was well formed around the plates and screws in both groups. Histologic examination showed no specific differences between two groups. The mechanical strength of extruded WE43 was sufficient for mid-facial application. Plates and screws made with appropriately treated WE43 have the potential to be useful clinically.N

The Quality of Reporting of Intervention Studies in the Korean Journal of Women Health Nursing (KJWHN): Based on the TREND Guidelines

PURPOSE: This study was done to evaluate quality of reports of non-randomized controlled quasi-experimental study articles published in the Korean Journal of Women Health Nursing (KJWHN). METHODS: A search was done for experimental studies assessing intervention effects among all articles published in the KJWHNfrom 2008 to 2013. Original articles were reviewed and analyzed according to the 22 checklist items of the guidelines for Transparent Reporting for Evaluations with Non-randomized Designs (TREND). RESULTS: Thirty-five articles on experimental studies were identified. The evaluation of the quality of reporting in these experimental studies found that there was a wide variety in the level of satisfying the TREND checklist. In particular, according to TREND topics, low levels of reporting quality were found for "title & abstract (only for information on how units were allocated to the intervention)", "outcomes in methods", "assignment in methods", "blinding in methods", "recruitment in results", "baseline data in results", "interpretation in discussion (especially intervention mechanism and success or barriers), "generalizability in discussion". CONCLUSION: Results indicate that adherence to TREND guidelines varied in experimental studies published in the KJWHN suggesting the recommendation that for higher levels of complete reporting, TREND guidelines be used in reports on experimental studies

Identification and Characterization of a Dual-Acting Antinematodal Agent against the Pinewood Nematode, Bursaphelenchus xylophilus

The pinewood nematode (PWN), Bursaphelenchus xylophilus, is a mycophagous and phytophagous pathogen responsible for the current widespread epidemic of the pine wilt disease, which has become a major threat to pine forests throughout the world. Despite the availability of several preventive trunk-injection agents, no therapeutic trunk-injection agent for eradication of PWN currently exists. In the characterization of basic physiological properties of B. xylophilus YB-1 isolates, we established a high-throughput screening (HTS) method that identifies potential hits within approximately 7 h. Using this HTS method, we screened 206 compounds with known activities, mostly antifungal, for antinematodal activities and identified HWY-4213 (1-n-undecyl-2-[2-fluorphenyl] methyl-3,4-dihydro-6,7-dimethoxy-isoquinolinium chloride), a highly water-soluble protoberberine derivative, as a potent nematicidal and antifungal agent. When tested on 4 year-old pinewood seedlings that were infected with YB-1 isolates, HWY-4213 exhibited a potent therapeutic nematicidal activity. Further tests of screening 39 Caenorhabditis elegans mutants deficient in channel proteins and B. xylophilus sensitivity to Ca2+ channel blockers suggested that HWY-4213 targets the calcium channel proteins. Our study marks a technical breakthrough by developing a novel HTS method that leads to the discovery HWY-4213 as a dual-acting antinematodal and antifungal compound

Proteome-wide characterization of signalling interactions in the hippocampal CA4/DG subfield of patients with Alzheimer’s disease

Alzheimer's disease (AD) is the most common form of dementia; however, mechanisms and biomarkers remain unclear. Here, we examined hippocampal CA4 and dentate gyrus subfields, which are less studied in the context of AD pathology, in post-mortem AD and control tissue to identify possible biomarkers. We performed mass spectrometry-based proteomic analysis combined with label-free quantification for identification of differentially expressed proteins. We identified 4,328 proteins, of which 113 showed more than 2-fold higher or lower expression in AD hippocampi than in control tissues. Five proteins were identified as putative AD biomarkers (MDH2, PCLO, TRRAP, YWHAZ, and MUC19 isoform 5) and were cross-validated by immunoblotting, selected reaction monitoring, and MALDI imaging. We also used a bioinformatics approach to examine upstream signalling interactions of the 113 regulated proteins. Five upstream signalling (IGF1, BDNF, ZAP70, MYC, and cyclosporin A) factors showed novel interactions in AD hippocampi. Taken together, these results demonstrate a novel platform that may provide new strategies for the early detection of AD and thus its diagnosis

18F-FDG PET/CT in Primary AL Hepatic Amyloidosis Associated with Multiple Myeloma

We report here on a rare case of primary AL hepatic amyloidosis associated with multiple myeloma in a 64-year-old woman. The patient was referred for evaluating her progressive jaundice and right upper quadrant pain. 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET)/computed tomography (CT) showed diffusely and markedly increased 18F-FDG uptake in the liver. Although there have been several case studies showing positive 18F-FDG uptake in pulmonary amyloidosis, to the best of our knowledge, the 18F-FDG PET/CT findings of hepatic amyloidosis or primary hepatic amyloidosis associated with multiple myeloma have not been reported previously

Research Trend of Women's Health in Korean Nursing Journals (2010~2015)

PURPOSE: To explore trends of women's health in nursing research by analyzing articles on women aged 13 years or older that were published in Korean Journal for Women Health Nursing from 2010 to 2015. METHODS: Seven focus areas were identified and modified to reflect integrative conceptual models of women's health: maternity care, menstrual concerns, health problems in women, gender influences on health risks, social influences on women's health, women and health care policy, and sexual health and violence against women. A total of 383 studies were analyzed according to these seven focus areas. RESULTS: Health problems in women, maternity care, and societal influences on women's health were the most widely studied topics in Korean women's health. There was increased attention to societal influences on women's health and gender influences on health risk. However, these areas are still limited in nursing research. Only 1% of these studies were in area of women's health policy. CONCLUSION: More studies in area of sexual health and violence against women are needed. Studies in area of women and health care policy are also needed to improve women's health in Korea

Interplay between chronic inflammation and clonal haematopoiesis of indeterminate potential in Behçets disease

Background Clonal haematopoiesis of indeterminate potential (CHIP) is a predisposition to haematological malignancy whose relationship with chronic inflammatory diseases, such as cardiovascular diseases, has been highlighted. Here, we aimed to investigate the CHIP emergence rate and its association with inflammatory markers in Behçets disease (BD). Methods We performed targeted next-generation sequencing to detect the presence of CHIP using peripheral blood cells from 117 BD patients and 5004 healthy controls between March 2009 and September 2021 and analysed the association between CHIP and inflammatory markers. Results CHIP was detected in 13.9% of patients in the control group and 11.1% of patients in the BD group, indicating no significant intergroup difference. Among the BD patients of our cohort, five variants (DNMT3A, TET2, ASXL1, STAG2, and IDH2) were detected. DNMT3A mutations were the most common, followed by TET2 mutations. CHIP carriers with BD had a higher serum platelet count, erythrocyte sedimentation rate, and C-reactive protein level; older age; and lower serum albumin level at diagnosis than non-CHIP carriers with BD. However, the significant association between inflammatory markers and CHIP disappeared after the adjustment for various variables, including age. Moreover, CHIP was not an independent risk factor for poor clinical outcomes in patients with BD. Conclusions Although BD patients did not have higher CHIP emergence rates than the general population, older age and degree of inflammation in BD were associated with CHIP emergence

2023 Korean Endocrine Society Consensus Guidelines for the Diagnosis and Management of Primary Aldosteronism

Primary aldosteronism (PA) is a common, yet underdiagnosed cause of secondary hypertension. It is characterized by an overproduction of aldosterone, leading to hypertension and/or hypokalemia. Despite affecting between 5.9% and 34% of patients with hypertension, PA is frequently missed due to a lack of clinical awareness and systematic screening, which can result in significant cardiovascular complications. To address this, medical societies have developed clinical practice guidelines to improve the management of hypertension and PA. The Korean Endocrine Society, drawing on a wealth of research, has formulated new guidelines for PA. A task force has been established to prepare PA guidelines, which encompass epidemiology, pathophysiology, clinical presentation, diagnosis, treatment, and follow-up care. The Korean clinical guidelines for PA aim to deliver an evidence-based protocol for PA diagnosis, treatment, and patient monitoring. These guidelines are anticipated to ease the burden of this potentially curable condition