Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea

IntroductionBartter syndrome (BS) is a rare salt-wasting tubulopathy caused by mutations in genes encoding sodium, potassium, or chloride transporters of the thick ascending limb of the loop of Henle and/or the distal convoluted tubule of the kidney. BS is characterized by polyuria, failure to thrive, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Potassium and/or sodium supplements, potassium-sparing diuretics, and nonsteroidal anti-inflammatory drugs can be used to treat BS. While its symptoms and initial management are relatively well known, long-term outcomes and treatments are scarce.MethodsWe retrospectively reviewed 54 Korean patients who were clinically or genetically diagnosed with BS from seven centers in Korea.ResultsAll patients included in this study were clinically or genetically diagnosed with BS at a median age of 5 (range, 0–271) months, and their median follow-up was 8 (range, 0.5–27) years. Genetic diagnosis of BS was confirmed in 39 patients: 4 had SLC12A1 gene mutations, 1 had KCNJ1 gene mutations, 33 had CLCNKB gene mutations, and 1 had BSND mutation. Potassium chloride supplements and potassium-sparing diuretics were administered in 94% and 68% of patients, respectively. The mean dosage of potassium chloride supplements was 5.0 and 2.1 mEq/day/kg for patients younger and older than 18 years, respectively. Nephrocalcinosis was a common finding of BS, and it also improved with age in some patients. At the last follow-up of 8 years after the initial diagnosis, 41% had short stature (height less than 3rd percentile) and impaired kidney function was observed in six patients [chronic kidney disease (CKD) G3, n = 4; CKD G5, n = 2].ConclusionBS patients require a large amount of potassium supplementation along with potassium-sparing agents throughout their lives, but tend to improve with age. Despite management, a significant portion of this population exhibited growth impairment, while 11% developed CKD G3–G5

Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease

Background Identifying genetic mutations in individuals with inherited cystic kidney disease is necessary for precise treatment. We aimed to elucidate the genetic characteristics of cystic kidney disease in the Korean population. Methods We conducted a 3-year prospective, multicenter cohort study at eight hospitals from May 2019 to May 2022. Patients with more than three renal cysts were enrolled and classified into two categories, typical autosomal dominant polycystic kidney disease (ADPKD) and atypical PKD. We identified the clinical characteristics and performed a genetic analysis using a targeted gene panel. Results A total of 725 adult patients were included in the study, of which 560 (77.2%) were diagnosed with typical ADPKD and 165 (22.8%) had atypical PKD. Among the typical ADPKD cases, the Mayo imaging classification was as follows: 1A (55, 9.9%), 1B (149, 26.6%), 1C (198, 35.8%), 1D (90, 16.3%), and 1E (61, 11.0%). The atypical PKD cases were classified as bilateral cystic with bilateral atrophic (31, 37.3%), lopsided (27, 32.5%), unilateral (nine, 10.8%), segmental (eight, 9.6%), bilateral cystic with unilateral atrophic (seven, 8.4%), and asymmetric (one, 1.2%). Pathogenic variants were found in 64.3% of the patients using the ciliopathy-related targeted gene panel. The typical ADPKD group demonstrated a higher discovery rate (62.3%) than the atypical PKD group (41.8%). Conclusion We present a nationwide genetic cohort’s baseline clinical and genetic characteristics for Korean cystic kidney disease

Flying to Quality: Cultural Influences on Online Reviews

Customers increasingly consult opinions expressed online before making their final decisions. However, inherent factors such as culture may moderate the criteria and the weights individuals use to form their expectations and evaluations. Therefore, not all opinions expressed online match customers’ personal preferences, neither can firms use this information to deduce general conclusions. Our study explores this issue in the context of airline services using Hofstede’s framework as a theoretical anchor. We gauge the effect of each dimension as well as that of cultural distance between the passenger and the airline on the overall satisfaction with the flight as well as specific service factors. Using topic modeling, we also capture the effect of culture on review text and identify factors that are not captured by conventional rating scales. Our results provide significant insights for airline managers about service factors that affect more passengers from specific cultures leading to higher satisfaction/dissatisfaction

Automatic Feature Recognition for Rotational Parts

This paper presents a comprehensive methodology of automatic feature recognition for rotational parts. The parts of interest are rotational without deviation. In stage one, IGES formatted data of 2D engineering drawings are transformed into three independent graphs through upperhalf profile. In stage two, recursive evaluations are made to recognize features and relevant information is acquired. Finally, an example is evaluated to demonstrate the recognition power of the developed algorithm for rotational features

Progress on the development of FMC control software for CIM

This paper presents an architecture and control logic of a Flexible Manufacturing Cell (FMC) which is one of the important elements under Computer Integrated Manufacturing (CIM) environment. To implement FMC, it is very important to develop a software which can control and monitor the overall system in an integrated environment. Our primary concern in this research is not to develop individual systems, but to integrate them in the hierarchical control level. Progress on the research of integrating CAD/CAM, Process Planning, Off-line Robot Programming and Simulation module into FMC control system is reported. FMC hardware system used here has an Automated Storage & Retrieval System (AS/RS), a conveyor system, a transfer robot, a CNC milling machine, a bar-code system, and an IBM PC/AT as Cell Control System (CCS). In order to demonstrate the operational result, the name plates, text-carved aluminium plates, are manufactured by this system

IJTC2006-12196 EFFECTS OF TEMPERATURE AND SLIDING DISTANCE ON THE WEAR BEHAVIOR OF AUSTENITIC FE- CR-C-SI HARDFACING ALLOY

ABSTRACT Effects of temperature and sliding distance on the metal-tometal wear behavior of austenitic Fe-20Cr-1.7C-1Si hardfacing alloy were investigated in an air at the temperature range of 25~450℃. The applied contact stress was 55 Mpa and the sliding distance was 18 m. In the temperature range from 25℃ to 200℃, the weight losses linearly increased with increasing sliding distance. In the meanwhile, the weight loss parabolically increased with increasing sliding distance up to 18 m at 300℃. At 450 ℃ , the weight loss drastically increased from the beginning of the wear test and became almost saturated with further increasing sliding distance over 3.6 m. The initial friction coefficient was not changed with temperature up to 300 ℃ . However, at 450 ℃ , the initial friction coefficient increased abruptly. It was considered to be due to the increasing tendency of adhesive bonding between the two self-mating specimens. Under 200℃, the steady state friction coefficient was not changed significantly. Above 300℃, the steady state friction coefficient decreased due to the oxide layers, formed on the worn surfaces during wear. INTRODUCTION Nuclear power plant valves are often designed to operate at relatively high contact stresses and temperatures, conditions that initiate severe adhesive wea

High efficiency perovskite light-emitting diodes of ligand-engineered colloidal formamidinium lead bromide nanoparticles

Formamidinium (FA, CH(NH2)(2)) lead bromide perovskite (FAPbBr(3)) nanoparticles (NPs) are promising emitters due to their high stability and ability to emit pure green color in both film and solution states. Even though various types of metal halide NP emitters in solution have shown high photoluminescence quantum efficiencies (PLQEs), electroluminescence efficiencies of the light-emitting diodes (LEDs) using the NP films are still much poorer, possibly due to the insulating ligands which can impede the charge injection and transport in films. Therefore, the organic ligand of NPs should be designed to facilitate charge injection and transport in LEDs. Here, we synthesize ligand-engineered colloidal FAPbBr(3) NPs at RT and demonstrate high efficiency perovskite NP LEDs based on the FAPbBr(3) NPs. Control of ligand length reduces trap-assisted recombination of carriers at the surface traps, and thus maximizes the PLQE of FAPbBr(3) NPs. Ligand engineering can also improve the charge injection and transport capability in FAPbBr(3) NP films. With this ligand engineering method, we achieve maximum current efficiency of 9.16 cd/A in LEDs based on FAPbBr(3) NPs, which is the highest efficiency in FAPbBr(3) NP-LEDs to date. The ligand engineering method reported here can be a simple way to improve the luminescence efficiency of optoelectronic devices based on perovskite NP LEDs.

Genetic identification of inherited cystic kidney diseases for implementing precision medicine: a study protocol for a 3-year prospective multicenter cohort study

Background Inherited cystic kidney disease is a spectrum of disorders in which clusters of renal cysts develop as the result of genetic mutation. The exact methods and pipelines for defining genetic mutations of inherited cystic kidney disease are not clear at this point. This 3-year, prospective, multicenter, cohort study was designed to set up a cohort of Korean patients with inherited cystic kidney disease, establish a customized genetic analysis pipeline for each disease subtype, and identify modifying genes associated with the severity of the disease phenotype. Methods/design From May 2020 to May 2022, we aim to recruit 800 patients and their family members to identify pathogenic mutations. Patients with more than 3 renal cysts in both kidneys are eligible to be enrolled. Cases of simple renal cysts and acquired cystic kidney disease that involve cyst formation as the result of renal failure will be excluded from this study. Demographic, laboratory, and imaging data as well as family pedigree will be collected at baseline. Renal function and changes in total kidney volume will be monitored during the follow-up period. Genetic identification of each case of inherited cystic kidney disease will be performed using a targeted gene panel of cystogenesis-related genes, whole exome sequencing (WES) and/or family segregation studies. Genotype-phenotype correlation analysis will be performed to elucidate the genetic effect on the severity of the disease phenotype. Discussion This is the first nationwide cohort study on patients with inherited cystic kidney disease in Korea. We will build a multicenter cohort to describe the clinical characteristics of Korean patients with inherited cystic kidney disease, elucidate the genotype of each disease, and demonstrate the genetic effects on the severity of the disease phenotype. Trial registration This cohort study was retrospectively registered at the Clinical Research Information Service ( KCT0005580) operated by the Korean Center for Disease Control and Prevention on November 5th, 2020.This work has been supported by the Research Program funded by the Korea Centers for Disease Control and Prevention (2019-ER-7304-00, 2019-ER7304-01). The funding body has no role in the design of the study, collection, analysis, interpretation of data, or writing of the manuscript