A sustained high-temperature fusion plasma regime facilitated by fast ions.

Nuclear fusion is one of the most attractive alternatives to carbon-dependent energy sources1. Harnessing energy from nuclear fusion in a large reactor scale, however, still presents many scientific challenges despite the many years of research and steady advances in magnetic confinement approaches. State-of-the-art magnetic fusion devices cannot yet achieve a sustainable fusion performance, which requires a high temperature above 100 million kelvin and sufficient control of instabilities to ensure steady-state operation on the order of tens of seconds2,3. Here we report experiments at the Korea Superconducting Tokamak Advanced Research4 device producing a plasma fusion regime that satisfies most of the above requirements: thanks to abundant fast ions stabilizing the core plasma turbulence, we generate plasmas at a temperature of 100 million kelvin lasting up to 20 seconds without plasma edge instabilities or impurity accumulation. A low plasma density combined with a moderate input power for operation is key to establishing this regime by preserving a high fraction of fast ions. This regime is rarely subject to disruption and can be sustained reliably even without a sophisticated control, and thus represents a promising path towards commercial fusion reactors.

Highest fusion performance without harmful edge energy bursts in tokamak.

The path of tokamak fusion and International thermonuclear experimental reactor (ITER) is maintaining high-performance plasma to produce sufficient fusion power. This effort is hindered by the transient energy burst arising from the instabilities at the boundary of plasmas. Conventional 3D magnetic perturbations used to suppress these instabilities often degrade fusion performance and increase the risk of other instabilities. This study presents an innovative 3D field optimization approach that leverages machine learning and real-time adaptability to overcome these challenges. Implemented in the DIII-D and KSTAR tokamaks, this method has consistently achieved reactor-relevant core confinement and the highest fusion performance without triggering damaging bursts. This is enabled by advances in the physics understanding of self-organized transport in the plasma edge and machine learning techniques to optimize the 3D field spectrum. The success of automated, real-time adaptive control of such complex systems paves the way for maximizing fusion efficiency in ITER and beyond while minimizing damage to device components.

Physics of stimulated L→H transitions.

We report on model studies of stimulated L→H transitions. These studies use a novel reduced mesoscale model. Studies reveal that L→H transitions can be triggered by particle injection into a subcritical state (i.e., P

Rotational resonance of nonaxisymmetric magnetic braking in the KSTAR tokamak.

One of the important rotational resonances in nonaxisymmetric neoclassical transport has been experimentally validated in the KSTAR tokamak by applying highly nonresonant n=1 magnetic perturbations to rapidly rotating plasmas. These so-called bounce-harmonic resonances are expected to occur in the presence of magnetic braking perturbations when the toroidal rotation is fast enough to resonate with periodic parallel motions of trapped particles. The predicted and observed resonant peak along with the toroidal rotation implies that the toroidal rotation in tokamaks can be controlled naturally in favorable conditions to stability, using nonaxisymmetric magnetic perturbations.

Multi-chord IR-visible two-color interferometer on KSTAR.

Major parts of an IR-visible two-color interferometer (TCI) on KSTAR have been upgraded for the multi-chord operation: (1) a diode-pumped-solid-state (DPSS) laser (660 nm) replacing the former HeNe laser (633 nm), (2) vacuum-compatible vibration isolator with titanium retro-reflectors, and (3) full digital phase comparator for multi-chord real-time density signals. The commercial compact DPSS laser suits the multiple chord configuration with its strong beam power (500 mW) and long coherent length (>100 m). Ti retro-reflectors are mounted on vacuum-compatible vibration isolators. The isolators are essential for the visible beams to avoid any fringe skips due to their short wavelength, considering the speed of the mechanical vibration (up to hundreds of µm). Field-programmable-gate-array (FPGA) modules count the entire fringes fast enough with a signal output rate up to 1.25 MHz, solving the fringe skip issues. The FPGA module enables the full digital processing of the phase comparator with a CORDIC algorithm after the sampling rate of 160 MS/s for the 40 MHz intermediate frequency of each beam. The full digital signals are transferred to the main plasma control system in real-time. Stable single-input-single-output operation of the KSTAR density control was demonstrated with the TCI. The real-time density profile control is also promising in the near future, with multiple actuators such as pellets and gas puffings.

A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.

Pyruvate dehydrogenase (PDH) is a crucial multienzyme system linking glycolysis to the tricarboxylic acid cycle by catalysing the decarboxylation of pyruvate to acetyl-CoA. Deficiency in pyruvate dehydrogenase is most commonly secondary to mutations in the X-linked PDHA1 gene encoding the E1 alpha subunit. There is a wide range of clinical presentations from severe neonatal lactic acidosis to chronic encephalopathy (Leigh syndrome). In recent years, a small subset of patients was recognized with less severe involvement, presenting initially only with intermittent symptoms, mainly of ataxia. Most of these patients remain stable for a number of years before developing progressive neurological deterioration around puberty at the latest. There does not appear to be a reliable correlation between genotype, phenotype, or enzyme activity. This makes counselling in a clinical setting challenging. We report a case with a previously known common mutation in PDHA1 (R263G) with an excellent outcome at 18 years of age. Previous patients with this mutation have presented with mental retardation and/or Leigh syndrome, while our patient's clinical outcome is exceptional. He is cognitively normal and has normal brain MRI. His management includes a stringent carbohydrate-free diet, as well as supplementation with thiamine, carnitine and vitamin E. This case further broadens the clinical spectrum, including now an example of a cognitively normal adult with PDH deficiency.

Considerations of the q-profile control in KSTAR for advanced tokamak operation scenarios.

The q-profile control is essential for tokamaks exploring the advanced tokamak scenarios, which is expected to be able to provide a possible route toward a steady-state high performance operation in a fully non-inductive current drive state. This is because the pressure and current profiles must remain optimal for the scenario during the injection of large amounts of heating and current drive. Here, essential tools for the q-profile control are the motional Stark effect diagnostic for measuring the radial magnetic pitch angle profile and a state-of-the-art plasma control system. The pulse duration of the H-mode discharge at KSTAR has been extended year by year with improved control performance, and the experiment of internal transport barrier (ITB) formation in a weakly reversed q-profile with a marginal neutral beam injection majority heating successfully demonstrated that the ITB is an alternative candidate to achieve a high performance regime in KSTAR. These recent achievements are attributed to reliable profile measurement, which means that profile feedback control has become a necessary step to ensure a robust and reliable approach to advanced scenarios as the next step of research in KSTAR. In this paper, we discuss the technical and conceptual requirements for q-profile control according to the upgrade plan for heating and current drive systems in the coming years.

Imputation of faulty magnetic sensors with coupled Bayesian and Gaussian processes to reconstruct the magnetic equilibrium in real time.

A Bayesian with Gaussian process-based numerical method to impute a few missing magnetic signals caused by impaired magnetic probes during tokamak operations is developed such that the real-time reconstruction of magnetic equilibria, whose performance strongly depends on the measured magnetic signals and their intactness, is affected minimally. Likelihood of the Bayesian model constructed with Maxwell's equations, specifically Gauss's law for magnetism and Ampère's law, results in an infinite number of solutions if two or more magnetic signals are missing. This undesirable characteristic of the Bayesian model is remediated by coupling the model with the Gaussian process. Our proposed numerical method infers nine non-consecutive missing magnetic signals correctly in less than 1 ms suitable for the real-time reconstruction of magnetic equilibria during tokamak operations.

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

Recessive mutations of SLC26A4 (PDS) are a common cause of Pendred syndrome and non-syndromic deafness in western populations. Although south and east Asia contain nearly one half of the global population, the origins and frequencies of SLC26A4 mutations in these regions are unknown. We PCR amplified and sequenced seven exons of SLC26A4 to detect selected mutations in 274 deaf probands from Korea, China, and Mongolia. A total of nine different mutations of SLC26A4 were detected among 15 (5.5%) of the 274 probands. Five mutations were novel and the other four had seldom, if ever, been identified outside east Asia. To identify mutations in south Asians, 212 Pakistani and 106 Indian families with three or more affected offspring of consanguineous matings were analysed for cosegregation of recessive deafness with short tandem repeat markers linked to SLC26A4. All 21 SLC26A4 exons were PCR amplified and sequenced in families segregating SLC26A4 linked deafness. Eleven mutant alleles of SLC26A4 were identified among 17 (5.4%) of the 318 families, and all 11 alleles were novel. SLC26A4 linked haplotypes on chromosomes with recurrent mutations were consistent with founder effects. Our observation of a diverse allelic series unique to each ethnic group indicates that mutational events at SLC26A4 are common and account for approximately 5% of recessive deafness in south Asians and other populations.

Effect of metal ions on the stability of metallothionein in the degradation by cellular fractions in vitro.

Metallothioneins (MT), small molecular weight metal binding proteins are known to play an important protective role against heavy metal toxicity, either as antioxidants or pre-oxidants. However, the mode of metabolic fate of MTs in various metal complexes is not clearly understood. This study was carried out to better understand the mode of selective turnover rate of various form of MT in complexes with different metals. The degradation of in vitro translated mouse 35S-cysteine-MT was examined in lysosomal or cytosolic fractions from mouse liver by gel electrophoresis and autoradiography. Overnight incubations of MT showed extensive proteolysis in the lysosomal fraction but not in cytosolic fractions. However, Cu2+-MT was found to be stable under the same experimental condition. In contrast, Zn did not interfere with MT degradation. These results suggest that lysosomes are chiefly responsible for MT removal and appears to be selective on the metals involved in the MT complex. In vitro, translated, radiolabeled MT provides a suitable substrate for investigating the characteristics of MT degradation.

The first successful prenatal diagnosis on a Korean family with citrullinemia.

DNA prenatal diagnosis was successfully performed on a family with citrullinemia. The father carried the G324S mutation and the mother carried the IVS6-2A > G mutation in the argininosuccinate synthase gene. They had a previous child with citrullinemia who died in the week after birth owing to complicated hyperammonemia. The lost child turned out to be a compound heterozygote. DNA was extracted from the cultured amniotic cells after amniocentesis done at 18-week gestation. For the detection of the G324S mutation, the PCR and restriction fragment length polymorphism method was used, and for the IVS6-2A > G mutation, allele-specific PCR was performed. The fetus was found to carry G324S but not IVS6-2A > G, suggesting a heterozygote carrier. Pregnancy was continued and a healthy boy was born. Plasma amino acid analysis performed on the third day after birth was normal and the serial ammonia level was in the normal range. A molecular study on his genomic DNA after birth also agreed with the previous fetal DNA analysis. He is now 2-months old with normal growth and development.

Mutation analysis of Korean patients with citrullinemia.

Citrullinemia is an autosomal recessive disease due to the mutations in the argininosuccinate synthetase (ASS) gene. Mutation analysis was performed on three Korean patients with citrullinemia. All of the three patients had the splicing mutation previously reported as IVS6-2A>G mutation. Two had Gly324Ser mutation and the other patient had a 67-bp insertion mutation in exon 15. The IVS6-2A>G mutation was reported to be found frequently in Japanese patients with citrullinemia, but Caucasian patients showed the extreme mutational heterogeneity. Although a limited number of Korean patients were studied, the IVS6-2A>G mutation appears to be one of the most frequent mutant alleles in Korean patients with citrullinemia. The Gly324Ser mutation identified in two patients also suggests the possible high frequency of this mutation in Korean patients as well.

Connexin26 mutations associated with nonsyndromic hearing loss.

OBJECTIVE: Mutations in the GJB2 gene are a major cause of autosomal recessive and sporadic types of congenital deafness. The 35delG mutation is the most frequent type of mutation in white populations. However, several other forms were reported, such as 167delT among Ashkenazi Jews and R143W in Africans. The present study investigated the mutations of connexin26 (Cx26) found in patients with nonsyndromic hearing loss (NSHL) and newborns in the Korean population. STUDY DESIGN: The sequencing data for 147 unrelated patients with congenital NSHL and 100 audiologically screened newborns were included in this prospective study. METHODS: Genomic DNA samples from all patients and newborns were sequenced in both directions for detection of Cx26 mutations. RESULTS: Thirteen different types of mutations were found in the patients and newborns. V27I and E114G are the popular types of polymorphic mutations in both groups. 235delC-deletion and frameshift--was detected in patients (15 in 294 alleles) and newborns (1 in 200 alleles). 35delG was rarely found in both group. In addition to above mutations, several types of mutations--S85P, K41R, S72C, V84A, 176-191del, and 299-300del-were identified. The family study of the 235delC showed a typical autosomal recessive trait of NSHL in their audiological evaluation of hearing threshold. CONCLUSION: The frequency of 235delC allele showed much higher in the patients (5%) than in newborns (0.5%). We rarely found 35delC mutant in both groups. These results suggest that the different types of Cx26 mutations affect autosomal recessive NSHL according to ethnic background.

Linear and whorled nevoid hypermelanosis with delayed psychomotor development.

We report a case of a 25-month-old girl presented to us for the evaluation of a severe delayed psychomotor development who also has pigmentary abnormalities. Linear and whorled hyperpigmentations following Blaschko's lines were noticed on her entire body except on her face, palms, soles, eyes and mucous membranes, which closely resembled those found in hypomelanosis of Ito, but inversely pigmented. Histologic examination revealed basal layer hyperpigmentation without incontinence of pigment or dermal melanophages. Chromosomal analysis of cultured peripheral leukocytes and fibroblasts from the hyperpigmented and the hypopigmented skin revealed normal female karyotype with no evidence of mosaicism or chimerism. This entity represents a kind of neurocutaneous syndrome-referred to by some authors as linear and whorled nevoid hypermelanosis.

Color stability of glass-ionomers and polyacid-modified resin-based composites in various environmental solutions.

PURPOSE: To evaluate the degree of color stability of glass-ionomers (GIs) and polyacid modified resin-based composites (PMRBCs) in various environmental solutions. MATERIALS AND METHODS: Seven polyacid-based esthetic restorative materials were used: three chemical-cured GIs, one resin-modified GI and three polyacid-modified RBCs. A light-cured resin-based composite (RBC) (Z 100) was used as a control. Disk type specimens were prepared and were aged in four different solutions (deionized water, 0.1 mole acetic acid solution, 75% ethanol, and 10% hydrogen peroxide solution) for 1, 7, 14, 21, 28, and 56 days. The specimens were kept at 37 degrees C throughout the study. Color coefficients (CIE L*a*b*) were measured by a reflection spectrophotometer with SCE mode, and the surface of specimens was examined by a stereo zoom microscope. RESULTS: In deionized water, all specimens showed an acceptable color stability. All of the GIs and PMRBCs showed significant color change in 0.1 mole acetic acid solution. The light-cured resin-modified GI showed a significant color change in 75% ethanol solutions. 10% hydrogen peroxide solution resulted in degradation and a high degree of color change for chemical-cured GIs. The light-cured resin-modified GI and PMRBCs showed high color change in 10% hydrogen peroxide solution. The light-cured RBC (Control), showed excellent color stability in all experimental solutions.

A clinical study of stress fractures in sports activities.

One hundred thirty-one patients with 169 stress fractures were treated between January 1984 and January 1990. The highest incidence was in teenage girls (25.5%), and the predominant sites were tibia (31.5%) and femur (12.5%). The mean interval between the start of hard training and the onset of symptoms was 2.7 months and the mean amount of increased activities was 93.7%. Volleyball (24.3%) and running (17.3%) had the majority of incidents, and 95 (72.5%) patients were professional athletes. Radionuclide bone scans were needed in 61 (46.6%) patients and 16 (12.2%) showed multiple lesions. Asymptomatic stress fractures were found in 12 (9.2%) patients, and only five showed recurrence at the other sites. Eleven (6.5%) cases were treated operatively, and involved the tarsal navicular (2.9%) and femur (2.4%).

Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans.

Mitochondrial disorders are often associated with primary or secondary CoQ10 decrease. In clinical practice, Coenzyme Q10 (CoQ10) levels are measured to diagnose deficiencies and to direct and monitor supplemental therapy. CoQ10 is reduced by complex I or II and oxidized by complex III in the mitochondrial respiratory chain. Therefore, the ratio between the reduced (ubiquinol) and oxidized (ubiquinone) CoQ10 may provide clinically significant information in patients with mitochondrial electron transport chain (ETC) defects. Here, we exploit mutants of Caenorhabditis elegans (C. elegans) with defined defects of the ETC to demonstrate an altered redox ratio in Coenzyme Q9 (CoQ9), the native quinone in these organisms. The percentage of reduced CoQ9 is decreased in complex I (gas-1) and complex II (mev-1) deficient animals, consistent with the diminished activity of these complexes that normally reduce CoQ9. As anticipated, reduced CoQ9 is increased in the complex III deficient mutant (isp-1), since the oxidase activity of the complex is severely defective. These data provide proof of principle of our hypothesis that an altered redox status of CoQ may be present in respiratory complex deficiencies. The assessment of CoQ10 redox status in patients with mitochondrial disorders may be a simple and useful tool to uncover and monitor specific respiratory complex defects.