Background:ATP8A2 mutations have only recently been associated with human disease. We present the clinical features from the largest cohort of patients with this disorder reported to date. Methods: An observational study of 9 unreported and 2 previously reported patients with biallelic ATP8A2 mutations was carried out at multiple centres. Results: The mean age of the cohort was 9.4 years old (range: 2.5-28 yrs). All patients demonstrated developmental delay, severe hypotonia and movement disorders: chorea/choreoathetosis (100%), dystonia (27%) or facial dyskinesia (18%). Hypotonia was apparent at birth (70%) or before 6 months old (100%). Optic atrophy was observed in 75% of patients who had a funduscopic examination. MRI of the brain was normal for most patients with a small proportion showing mild cortical atrophy (30%), delayed myelination (20%) and/or hypoplastic optic nerves (20%). Epilepsy was seen in two older patients. Conclusions:ATP8A2 gene mutations have emerged as a cause of a novel phenotype characterized by developmental delay, severe hypotonia and hyperkinetic movement disorders. Optic atrophy is common and may only become apparent in the first few years of life, necessitating repeat ophthalmologic evaluation. Early recognition of the cardinal features of this condition will facilitate diagnosis of this disorder.

An acute gastroenteritis (AGE) outbreak was reported in May 2013 in Gyeonggi Province, South Korea. Eight students who had eaten breakfast on 21 May 2013 at a high-school restaurant exhibited AGE symptoms. Our case-control study showed that a strong association was observed between AGE symptoms and fermented oyster consumption. Virological studies also indicated that noroviruses (NoVs) were detected from both clinical samples and fermented oyster samples, and multiple different genotypes (genogroups GII.4, GII.11 and GII.14) of NoVs were present in both samples. The nucleotide sequence similarity between the strains found in the clinical samples and those in the fermented oysters was more than 99·5%. Therefore, to prevent further outbreaks, proper management of raw oysters is necessary and the food industry should be aware of the risk of viral gastroenteritis posed by fermented oysters contaminated with NoVs.

To investigate the phylogeny of benign Theileria parasites, we determined the complete major piroplasm surface protein (MPSP) gene sequences for 6 benign theilerial organisms, including the first from tick. Sequences were analysed alongside published sequences for 39 benign Theileria parasites, using Bayesian inference and maximum parsimony. All MPSP sequences were 852 nucleotides, except for Gansu, Wuchangbuf, VB01, and VB01; Gansu contained 873 nucleotides, and the other 3 had 855. Deduced amino acid sequences contained 284 residues, except for Gansu (291) and Wuchangbuf, VB01, and VB01 (285 each). Pairwise comparisons showed identities among 45 theilerial MPSP sequences ranging from 70·9 to 99·8% for nucleotide and 71·0 to 100% for amino acid sequences. Our results clearly indicate that all global parasites, excluding Brisbane, were classified into 1 of 8 types; 6 types of Theileria exist in Korea. Each type, excluding Type 6, has several type-specific amino acid sequences. The phylogenetic tree derived from the nucleotide sequences showed 2 sister-group relationships, Type 2+Type 7 and Type 3+Brisbane, with a new branching pattern: (Type 6 (Type 8 ((Type 2, Type 7), (Type 1, (Type 4, (Type 5, (Type 3, Brisbane))))))). Our sequence data showed no geographical influence on worldwide Theileria parasite distribution.

To investigate the causal relationship of blood clotting factors and hepatitis A virus (HAV) infection in haemophilia patients during 1998–1999 in Korea, we performed a 1:3 matched case-control study and molecular detection of HAV from clotting factors and patients. The epidemiological investigation showed that one lot of clotting factor VIII was related epidemiologically to patients with hepatitis A with an odds ratio of 35·0, or 38·4 when adjusted for the interval between injections. We examined 17 sera collected from seven patients and 124 lots of blood clotting factors (factor VIII and factor IV) by HAV reverse transcriptase–polymerase chain reaction (RT–PCR). HAV RNA was detected in five clotting factors and six sera. The HAV sequence of one of the factor VIII samples was identical to the sequences found in three patients' sera. Findings from the laboratory and epidemiological studies suggested that the clotting factor was causally related to HAV infection in three haemophilia patients.

We aimed to determine the seroprevalence of poliovirus antibody in Korea by using the cell culture neutralization method recommended by the WHO. A total of 500 sera collected from children at eight primary schools in Kyunggi province were used for this study. We found that 82·2% of children were positive for all three types of poliovirus and antibody-positive rates for types I, II and III were 94·4, 96·6 and 86·8% respectively, indicating that seropositive rates for types I and II were considerably higher than for type III (P<0·0001). This result implies that the type III component of the oral polio vaccine should be evaluated further. Although a greater number of children, including young infants, need to be tested for seroprevalence, this study still provides us with valuable information on the effectiveness of vaccination against polioviruses in Korea.

A chemical additive method was used to modify the composition and resultant properties of a commercially available 0.96(0.9lPb(Mg1/3Nb2/3)O3 - 0.09PbTiO3) - 0.04 BaTiO3 (PMN-PT-BT) ceramic. Without an additional ball-mixing process, several combinations of minor additives such as Fe, Ba, Sr, Zn and Ti were incorporated by the chemical method. Weak- and high-field characteristics including dielectric properties, induced strain and polarization, and associated hystereses were evaluated for the samples sintered at 1200°C for 4 hrs. All properties were found to depend on the chemical additives and temperature. Especially, the temperature dependence of high-field characteristics revealed different behavior from that reported for conventionally-prepared samples. For example, the samples containing 0.5 wt% SrO, 0.5 wt% ZnO, and 0.5wt% TiO2 did not exhibit a transition to piezoelectric behavior at the temperature expected from the dielectric measurements. Overall, the coating process has been successfully used to modify, and in some cases, enhance the high-field characteristics of PMN-based ceramics for electromechanical uses.

Undoped tin oxide films were grown on Si substrates by a reactive ion-assisted deposition technique in which oxygen ions were irradiated on depositing Sn particles. In order to investigate the oxidation from SnO to SnO2, the effects of initial oxygen contents and heat treatment on the final crystalline structure of tin oxide films were thoroughly examined. Oxygen to Sn metal ratio (No/Nsn) of as-deposited films were controlled from 1.1 to 1.9 by varying the relative arrival ratio (F) of oxygen ion to Sn particle from 0.025 to 0.1. Heat treatment was carried out in two different ways; one was post vacuum-annealing at 400 ∼ 600°C and the other was in-situ annealing 400 ∼ 500°C. Crystalline structure of as-deposited tin oxide films at room temperature was amorphous. After post-annealing at 400°C, only SnO phase was found below No/Nsn= 1.6 in x-ray diffraction and crystalline structure of the films comprising higher oxygen contents still appeared to be amorphous. Even though the films still showed SnO phase until Γ50 after 500°C post-annealing, however, mixed structures of SnO, SnO2, and intermediate Sn2O3/Sn3O4 were observed for the films Γ75 and Γ100 with higher oxygen contents. At 600°C annealing, perfect SnO2 phase was attained for the films having No/Nsn=1.9. On the other hand, pure polycrystalline SnO2 films could be obtained by in-situ annealing at low temperature. The values of No/Nsn and the chemical shifts with the variation of oxidation were carefully determined by the comparison of Sn MNN and O KLL Auger transitions. Surface microstructure of deposited films was also analyzed using a scanning electron microscopy (SEM) and an atomic force microscope (AFM).

Rapid thermal annealing (RTA) was applied to anneal polycrystalline CdTe thin films evaporated on CdS/ITO substrate and the effects of rapid thermal annealing temperatures and gas environments were studied. X-ray diffractometer (XRD), X-ray photoelectron spectroscopy(XPS), energy dispersive X-ray spectroscopy(EDX), cross-sectional transmission microscopy(TEM), and micro-EDX in TEM were used to characterize physical and chemical properties of rapid thermal annealed CdTe thin films. Complete CdTe/CdS photovoltaic cells were fabricated and I-V characteristics of these cells were measured under the illumination. Results showed that the bulk composition of CdTe remained stoichiometric to 550°C in the air environment and surface composition became Cd-rich. Cross-sectional TEM and micro-EDX showed columnar grains and micro-twins remained even after RTA, however, sulfur content in rapid thermal annealed CdTe caused by sulfur diffusion from CdS during the annealing was much smaller than that by furnace annealing. Among the investigated RTA temperatures and gas environments, the cell made with CdTe annealed at 550°C in the air showed the best solar energy conversion efficiency.