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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.
Human bocaviruses (HBoVs) have been detected in human gastrointestinal infections worldwide. In 2005, HBoV was also discovered in infants and children with infections of the lower respiratory tract. Recently, several genotypes of this parvovirus, including HBoV genotype 2 (HBoV2), genotype 3 (HBoV3) and genotype 4 (HBoV4), were discovered and found to be closely related to HBoV. HBoV2 was first detected in stool samples from children in Pakistan, followed by detection in other countries. HBoV3 was detected in Australia and HBoV4 was identified in stool samples from Nigeria, Tunisia and the USA. Recently, HBoV infection has been on the rise throughout the world, particularly in countries neighbouring South Korea; however, there have been very few studies on Korean strains. In this study, we characterised the whole genome and determined the phylogenetic position of CUK-BC20, a new clinical HBoV strain isolated in South Korea. The CUK-BC20 genome of 5184 nucleotides (nt) contains three open-reading frames (ORFs). The genotype of CUK-BC20 is HBoV2, and 98.77% of its nt sequence is identical with those of other HBoVs, namely Rus-Nsc10-N386. Especially, the ORF3 amino acid sequences from positions 212–213 and 454 corresponding to a variable region (VR)1 and VR5, respectively, showed genotype-specific substitutions that distinguished the four HBoV genotypes. As the first whole-genome sequence analysis of HBoV in South Korea, this information will provide a valuable reference for the detection of recombination, tracking of epidemics and development of diagnosis methods for HBoV.
Noroviruses (NoVs) are major causal agents of acute gastroenteritis in humans. NoV GII.4 is the predominant genotype globally. However, uncommon and minor types of NoVs are consistently detected and some have been shown to dominate over GII.4. Therefore, the prevalence of dominant and uncommon NoVs makes the identification of these viruses important for the prediction and prevention of pandemics. In this study, the full-genome sequence of a NoV (strain JW) detected in Korea was extensively characterized. The full-length genome was 7510 nucleotides long, and phylogenetic analysis based on the whole-genome sequences, including open reading frame (ORF)1, ORF2, and ORF3, indicated that it belonged to the GII.21 genotype. Strain JW showed maximum identity with strain YO284; however, comparison of the amino acid sequence of ORF2, which functions as an antigen, showed substitutions in several amino acids. GII.21 is not a prevalent epidemiological agent of acute gastroenteritis in humans, but it is consistently found in gastroenteritis patients from several countries. The present study provides the first full-genome sequence analysis of NoV GII.21 isolated from a patient in Korea. Our findings provide not only valuable genome information but also data for epidemiology studies, epidemic prevention, and vaccine development strategies.
Schizophrenia patients have a higher prevalence of type 2 diabetes mellitus with impaired glucose tolerance (IGT) than normals. We examined the relationship between IGT and clinical phenotypes or cognitive deficits in first-episode, drug-naïve (FEDN) Han Chinese patients with schizophrenia.
A total of 175 in-patients were compared with 31 healthy controls on anthropometric measures and fasting plasma levels of glucose, insulin and lipids. They were also compared using a 75 g oral glucose tolerance test and the homeostasis model assessment of insulin resistance (HOMA-IR). Neurocognitive functioning was assessed using the MATRICS Consensus Cognitive Battery (MCCB). Patient psychopathology was assessed using the Positive and Negative Syndrome Scale (PANSS).
Of the patients, 24.5% had IGT compared with none of the controls, and they also had significantly higher levels of fasting blood glucose and 2-h glucose after an oral glucose load, and were more insulin resistant. Compared with those patients with normal glucose tolerance, the IGT patients were older, had a later age of onset, higher waist or hip circumference and body mass index, higher levels of low-density lipoprotein and triglycerides and higher insulin resistance. Furthermore, IGT patients had higher PANSS total and negative symptom subscale scores, but no greater cognitive impairment except on the emotional intelligence index of the MCCB.
IGT occurs with greater frequency in FEDN schizophrenia, and shows association with demographic and anthropometric parameters, as well as with clinical symptoms but minimally with cognitive impairment during the early course of the disorder.
We present recent observation results of Sgr A* at millimeter obtained with VLBI arrays in Korea and Japan.
7 mm monitoring of Sgr A* is part of our AGN large project. The results at 7 epochs during 2013-2014, including high resolution maps, flux density and two-dimensional size measurements are presented. The source shows no significant variation in flux and structure related to the G2 encounter in 2014. According to recent MHD simulations by kawashima et al., flux and magnetic field energy can be expected to increase several years after the encounter; We will keep our monitoring in order to test this prediction.
Astrometric observations of Sgr A* were performed in 2015 at 7 and 3.5 millimeter simultaneously. Source-frequency phase referencing was applied and a combined ”core-shift” of Sgr A* and a nearby calibrator was measured. Future observations and analysis are necessary to determine the core-shift in each source.
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 identify clinical factors that can explain the differences in treatment outcome, and examine the value of human papillomavirus infection as a prognostic biomarker in stage IVa tonsillar carcinomas.
Fifty-nine patients with tonsillar carcinoma classified as stage IVa were retrospectively analysed for survival outcomes according to various clinical factors. Human papillomavirus infection was evaluated using a human papillomavirus DNA chip test and immunohistochemical staining for p16 and p53.
Lower disease-free survival rates were associated with increasing local invasiveness and nodal status. Although human papillomavirus positivity and p16 expression was more common in locally advanced tonsillar carcinomas with advanced nodal status, the overall survival rate was better for patients with human papillomavirus positive, p16-positive tumours.
The disease-free survival rate may differ according to local tumour invasiveness and nodal status, even for stage IVa tonsillar cancers. Human papillomavirus infection may be a useful biomarker for predicting treatment outcomes for stage VIa tumours.
Epidemiological and virological studies indicate that noroviruses-contaminated groundwater was the primary source of four acute gastroenteritis outbreaks in South Korea between 2008 and 2012. Furthermore, cabbage kimchi was first identified as the vehicle of transmission between groundwater and infected patients in an outbreak in 2011. The proper treatment of groundwater sources prior to use for drinking or in food preparation is necessary to prevent further outbreaks.
This study aimed to evaluate the efficacy of post-operative voice therapy after phonomicrosurgery for vocal polyp removal.
The study retrospectively enrolled 55 consecutive patients who had undergone voice therapy after phonomicrosurgery for vocal polyp removal occurring between June 2010 and June 2011. A historical group of 63 similar patients not receiving voice therapy was used as an external control. We compared voice analysis parameters and Voice Handicap Index scores for the two groups.
Most objective and subjective voice outcome parameters were significantly improved after surgical treatment. Although the study and control groups showed no significant difference regarding objective parameters (using acoustic and aerodynamic analysis) or the subjective parameters assessed using the grade-roughness-breathiness-asthenia-strain scale, the study group had significantly better final Voice Handicap Index scores.
Following surgery for vocal polyps, post-operative voice therapy can improve patients' vocal discomfort, emotional responses and everyday self-perception.
Enterotoxigenic Escherichia coli (ETEC) is now recognized as a common cause of foodborne outbreaks. This study aimed to describe the first ETEC O169 outbreak identified in Korea. In this outbreak, we identified 1642 cases from seven schools. Retrospective cohort studies were performed in two schools; and case-control studies were conducted in five schools. In two schools, radish kimchi was associated with illness; and in five other schools, radish or cabbage kimchi was found to have a higher risk among food items. Adjusted relative risk of kimchi was 5·87–7·21 in schools that underwent cohort studies; and adjusted odds ratio was 4·52–12·37 in schools that underwent case-control studies. ETEC O169 was isolated from 230 affected students, and was indistinguishable from the isolates detected from the kimchi product distributed by company X, a food company that produced and distributed kimchi to all seven schools. In this outbreak, we found that the risk of a kimchi-borne outbreak of ETEC O169 infection is present in Korea. We recommend continued monitoring regarding food safety in Korea, and strengthening surveillance regarding ETEC O169 infection through implementation of active laboratory surveillance to confirm its infection.
Although immediate notification of a case is crucial for epidemic control, clinicians may delay notification due to uncertainties in diagnosis, reflecting a trade-off between timeliness and the accuracy of surveillance. We assessed this trade-off for four epidemic-prone diseases that require immediate notification of suspected cases: shigellosis, typhoid fever, paratyphoid fever, and cholera in the Korean National Notifiable Disease Surveillance System data for 2001–2007. Timeliness was measured as the time to registration (TR), being the time interval from symptom onset to notification by the clinician to the local public health centre. We introduced a new index, ‘time-accuracy trade-off ratio’ to indicate time saved by clinical vs. laboratory-based notifications. Clinical notifications comprised 34·4% of total notifications, and these showed a shorter median TR than laboratory-based notifications (1–4 days). The trade-off ratio was greatest for shigellosis (3·3 days), and smallest for typhoid fever (0·6 days). A higher trade-off ratio provides stronger evidence for clinical notification without waiting for laboratory confirmation.
Organic photovoltaic (OPV) devices were fabricated using a novel draw bar premetered coating technique, whereby a meniscus of fluid is dragged across a substrate to leave a trailing wet film. The results showed that coating thickness could be controlled by varying the coating speed, rod diameter, gap height, amount of solution injected, rod diameter, rod composition material and number of layers. Devices on PET with active areas of 10 cm2 and active layer thicknesses ranging from 35 to 475 nm were produced using the technique. Active layers of 160 nm were the optimum of thicknesses trialled, achieving typical best efficiencies around 0.4 %. Devices with films thinner than 90 nm did not function due to short-circuiting. The draw-bar coating method has the advantage of allowing controlled deposition of a wide range of film thicknesses with no solution wastage.
Unless the orbital contents are supported, the insertion of nasal packing material during endoscopic endonasal surgery may cause serious intracranial complications such as cerebrospinal fluid leakage.
Case report and literature review.
We report a patient with iatrogenic cerebrospinal fluid rhinorrhoea caused by intracranial entry of a Silastic sheet inserted into the nasal cavity. This skull defect and the surrounding skull base were successfully reconstructed in a multilayer fashion via an endoscopic endonasal approach.
This case highlights the need for caution when inserting nasal packing material. During endoscopic endonasal reduction of blowout fractures, great care must be taken to support the orbital contents, in order to avoid serious intracranial complications such as cerebrospinal fluid leakage.
Roll-to-roll manufacturing holds the potential to rapidly and cheaply produce electronic devices in a flexible format as well as to effectively scale up production of emerging nanotechnologies. Developing scalable techniques for the efficient and effective use of solution-processed functional material is a significant factor in realizing the potential of roll-to-roll manufacturing. We present a novel inkjet deposition process developed to rapidly deposit arrays of micron-wide lines of silver nanoparticles for use as an optically transparent and electrically conducting film. The technique involves jetting a controlled number of space-overlapped drops of a dilute nanoparticle silver ink onto a substrate to form a long stable ink rivulet with two parallel and pinned edges. Subsequently, nanoparticles deposit preferentially at the two parallel rivulet edges due to edge-enhanced evaporation of the solvent. The final result is a twin-deposit of parallel continuous nanoparticle lines, each with a characteristic width less than 5μm and height less than 300 nm. The twin lines are separated by a predominantly particle-free region with the spacing between the lines ranging from 100 μm to 600 μm, where the spacing is a function of ink, substrate, and printing conditions. The effect of substrate surface and jetting parameters on nanoparticle line morphology is presented. Arrays of such lines have been printed and evaluated as potential transparent conducting films, showing an effective sheet resistance of ∼5 Ω/□. This edge-enhanced twin-deposition technique has the potential for rapid, material-efficient, and lithography-free patterned deposition of functional material for use in roll-to-roll manufacturing.
Deposition of solution-processed functional materials generally requires additional post-processing to optimize the functionality of the material. We study sintering of Ag nanoparticle (NP) (with average diameter 77nm) deposits for improved electrical conductivity, with emphasis on Argon plasma methods compatible with the low temperature requirements of regular low-cost flexible polymer substrates. The relationship between plasma parameters (such as power and treatment time) versus sintering results (sintered structure depth, film continuity and electrical sheet resistance) will be reported. According to our efforts so far, we have achieved the electrical resistivity of the sintered film at about 20 times greater than the value of bulk silver using a process compatible with the low temperature requirements of common flexible polymer substrates.
Double-shelled nanotubes composed of inner shell Pb(Zr0.52Ti0.48)O3 (PZT) and outer shell TiO2 are successfully fabricated by a spin coating of each sol-gel solution on porous anodic alumina template. Field emission transmission electron microscopy images show that they have a ~ 10 nm wall thickness. The selected area electron diffraction patterns show that they have two mixed crystalline phases of tetragonal PZT and anatase TiO2. The analyses of scanning transmission electron microscopy equipped with energy dispersive X-ray spectroscopy confirm their uniform distribution of each element.