Short-term effects of microimplant-assisted rapid palatal expansion on the circummaxillary sutures in skeletally mature patients: A cone-beam computed tomography study.

INTRODUCTION: This study aimed to investigate the short-term effects on the circummaxillary sutures induced by microimplant-assisted rapid palatal expansion (MARPE) in skeletally mature patients. METHODS: Cone-beam computed tomography (CBCT) images of preexpansion (T0) and postexpansion (T1) of 23 patients (mean age, 20.9 ± 3.65 years) treated with MARPE were evaluated. The T0 and T1 CBCT images were reoriented and superimposed on the basis of the anterior cranial base, using OnDemand3D software (Cybermed, Seoul, Korea). Then, width changes of 9 circummaxillary sutures (frontonasal, frontomaxillary, frontozygomatic, nasomaxillary, zygomaticomaxillary, intermaxillary, midpalatal, zygomaticotemporal, and pterygopalatine sutures) were measured on 1 section of each patient's T0 and T1 CBCT images. In addition, correlation coefficients between changes in the midpalatal sutures, the amount of appliance activation, age, and the changes in other circummaxillary sutural widths were also calculated. RESULTS: Statistically significant (P <0.05) width increases were found in all 9 circummaxillary sutures. The changes in midpalatal suture at the maxillary central incisor level positively correlated with the intermaxillary sutures at the anterior nasal spine level, midpalatal sutures at the posterior nasal spine level, and frontomaxillary sutures (P <0.05). In addition, the changes in the midpalatal sutures at the posterior nasal spine level also positively correlated with the changes in the intermaxillary sutures at the anterior nasal spine level, frontomaxillary sutures, and medial pterygopalatine sutures (P <0.05). CONCLUSIONS: All 9 circummaxillary sutural widths increased in skeletally mature patients immediately after MARPE. The greatest increases in width were measured in the midpalatal sutures and the intermaxillary sutures, followed by the frontomaxillary sutures.

Performance evaluation of EuDx™ ufPCR Flu & RSV detection kit for detection of influenza A/B and respiratory syncytial virus.

EuDx™ ufPCR Flu & RSV Detection Kit (EUDIPIA, Chungcheongbuk-do, Republic of Korea) is a recently developed molecular assay for simultaneously detecting influenza A/B and respiratory syncytial virus (RSV). We evaluated this assay in a clinical setting and demonstrated its excellent performance for diagnosing influenza A/B and RSV infections.

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

BACKGROUND: Multigene panel sequencing (MGPS) is the first-line option in diagnostic testing for genetically heterogeneous but clinically similar conditions, such as neuromuscular disorders (NMDs). In this study, we aimed to assess the utility of comprehensive NMD MGPS and the need for updated panels. METHODS: All patients were analyzed by either of two versions of the NMD MGPS and by chromosomal microarray and karyotype testing. Four patients with negative NMD MGPS results underwent whole exome sequencing. RESULTS: In total, 91 patients were enrolled, and a genetic diagnosis was made in 36 (39.6%); of these, 33 were diagnosed by the comprehensive NMD MGPS, two were confirmed by chromosomal microarray, and one was diagnosed by whole exome sequencing. For MGPS, the diagnostic yield of Version 2 (19/52; 36.5%) was a little higher than that of Version 1 (14/39; 35.9%), and one gene identified in Version 2 was not included in Version 1. A total of 36 definitive and nine possible causative variants were identified, of which 17 were novel. CONCLUSION: A more comprehensive panel for NMD MGPS can improve the diagnostic efficiency in genetic testing. The rapid discovery of new disease-causing genes over recent years necessitates updates to existing gene panels.

Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development.

OBJECTIVE: To determine effects of copy number variations (CNV) on developmental aspects of children suspected of having delayed development. METHODS: A retrospective chart review was done for 65 children who underwent array-comparative genomic hybridization after visiting physical medicine & rehabilitation department of outpatient clinic with delayed development as chief complaints. Children were evaluated with Denver Developmental Screening Test II (DDST-II), Sequenced Language Scale for Infants (SELSI), or Preschool Receptive-Expressive Language Scale (PRES). A Mann-Whitney U test was conducted to determine statistical differences of developmental quotient (DQ), receptive language quotient (RLQ), and expressive language quotient (ELQ) between children with CNV (CNV(+) group, n=16) and children without CNV (CNV(-) group, n=37). RESULTS: Of these subjects, the average age was 35.1 months (mean age, 35.1±24.2 months). Sixteen (30.2%) patients had copy number variations. In the CNV(+) group, 14 children underwent DDST-II. In the CNV(-) group, 29 children underwent DDSTII. Among variables, gross motor scale was significantly (p=0.038) lower in the CNV(+) group compared with the CNV(-) group. In the CNV(+) group, 5 children underwent either SELSI or PRES. In the CNV(-) group, 27 children underwent above language assessment examination. Both RLQ and ELQ were similar between the two groups. CONCLUSION: The gross motor domain in DQ was significantly lower in children with CNV compared to that in children without CNV. This result suggests that additional genetic factors contribute to this variability. Active detection of genomic imbalance could play a vital role when prominent gross motor delay is presented in children with delayed development.

The Korean Version of the Cognitive Assessment Scale for Stroke Patients (K-CASP): A Reliability and Validity Study.

OBJECTIVE: To develop the Korean version of the Cognitive Assessment Scale for Stroke Patients (K-CASP) and to evaluate the test reliability and validity of the K-CASP in stroke patients. METHODS: The original CASP was translated into Korean, back-translated into English, then reviewed and compared with the original version. Thirty-three stroke patients were assessed independently by two examiners using the K-CASP twice, with a one-day interval, for a total of four test results. To evaluate the reliability of the K-CASP, intra-class correlation coefficients were used. Pearson correlations were calculated and simple regression analyses performed with the Korean version of Mini-Mental State Examination (K-MMSE) and the aphasia quotient (AQ) to assess the validity. RESULTS: The mean score was 24.42±9.47 (total score 36) for the K-CASP and 21.50±7.01 (total score 30) for the K-MMSE. The inter-rater correlation coefficients of the K-CASP were 0.992 on the first day and 0.995 on the second day. The intra-rater correlation coefficients of the K-CASP were 0.997 for examiner 1 and 0.996 for examiner 2. In the Pearson correlation analysis, the K-CASP score significantly correlated with the K-MMSE score (r=0.825, p<0.001). The coefficients of determination (r2) of the AQ were 0.586 for the K-MMSE and 0.513 for the K-CASP in the simple regression analysis. CONCLUSION: The K-CASP is a reliable and valid instrument for cognitive dysfunction screening in post-stroke patients. It is more applicable than other cognitive assessment tools in stroke patients with aphasia.

Korean Version of the Mini-Mental State Examination Using Smartphone: A Validation Study.

BACKGROUND: Stroke often leads to disability, and poststroke survivors often have limited accessibility to medical facilities. INTRODUCTION: For such patients, mobile videoconferencing technology offers an opportunity to perform follow-up assessment and appropriate management of cognitive impairment. We aimed to determine the validity of the Korean version of the Mini-Mental State Examination (MMSE-K) when administered using a smartphone. MATERIALS AND METHODS: Thirty patients with ischemic or hemorrhagic stroke were included in this study (20 males, 10 females; mean age, 69.8 ± 12.9 years). Both face-to-face and remote assessments of cognitive function through MMSE-K were performed for each patient at an interval of at least 3 days. Additionally, an in-person collaborator evaluated the MMSE-K score during the remote assessment. A smartphone and a tablet were used by the patient and the examiner, respectively, and remote connection was mediated using a dedicated videoconferencing application. The MMSE-K scores obtained through face-to-face, remote, and in-person assessments were compared using the Wilcoxon signed rank test and the Spearman correlation analysis. RESULTS: There was good agreement between face-to-face and remote assessments, as well as between remote assessment and in-person collaborator's evaluation regarding total MMSE-K score and subscores for each MMSE-K domain (orientation, memory, attention/calculation, language, and visuospatial function). DISCUSSION: Remote assessment can be a useful clinical evaluation method, and this study confirmed the validity. CONCLUSIONS: The smartphone represents a promising tool for the assessment of cognitive function in clinical practice, but further research into the intra- and inter-rater reliability of observations is warranted.

Bilateral Anterior Opercular Syndrome With Partial Kluver-Bucy Syndrome in a Stroke Patient: A Case Report.

Bilateral anterior opercular syndrome and partial Kluver-Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver-Bucy syndrome.

Enhancing oral bioavailability using preparations of apigenin-loaded W/O/W emulsions: In vitro and in vivo evaluations.

We analyzed the physical properties and digestibility of apigenin-loaded emulsions as they passed through a simulated digestion model. As the emulsion passed through the simulated stages of digestion, the particle size and zeta potential of all the samples changed, except for the soybean oil-Tween 80 emulsion, in which zeta potential remained constant, through all stages, indicating that soybean oil-Tween 80 emulsions may have an effect on stability during all stages of digestion. Fluorescence microscopy was used to observe the morphology of the emulsions at each step. The in vivo pharmacokinetics revealed that apigenin-loaded soybean oil-Tween 80 emulsions had a higher oral bioavailability than did the orally administrated apigenin suspensions. These results suggest that W/O/W multiple emulsions formulated with soybean oil and tween 80 have great potential as targeted delivery systems for apigenin, and may enhance in vitro and in vivo bioavailability when they pass through the digestive tract.

Effects of Indoor Rowing Exercise on the Body Composition and the Scoliosis of Visually Impaired People: A Preliminary Study.

OBJECTIVE: To evaluate the effects of rowing exercise on body composition, laboratory data, fitness and scoliosis in visually impaired people. The majority of visually impaired people do not participate in active sports due to efficiency and safety issues. Rowing is a safe whole-body exercise with aerobic and anaerobic components. METHODS: Twenty subjects were recruited from among those admitted to a facility for visually impaired people (16 men and 4 women). Laboratory data, body composition, physical fitness, Cobb's angle, and fall index were checked before and after 6 weeks (5 days a week) of indoor rowing using Concept2 Model E. RESULTS: After the training, fat mass and total body fat percent decreased significantly. In the fitness test, back strength and trunk flexion score increased significantly. Laboratory data showed significant increases in serum protein and albumin and decreases in low-density lipoprotein (LDL) cholesterol. There were 9 subjects with scoliosis and after the training Cobb's angle decreased by 1.11°±1.55°, though this was not statistically significant. CONCLUSION: Visually impaired people frequently have abnormal body composition, low physical fitness, and scoliosis. A rowing exercise program can be helpful, with a positive effect on body composition and physical fitness; however, with respect to scoliosis, we need an earlier intervention program in visually impaired people.

Selectively impaired fasciculus gracilis in cervical spinal cord injury.

Selective lesions of the fasciculus gracilis have been reported only in cases of nontraumatic spinal cord disease. We present the case of a 54-year-old man who developed persistent hypesthesia and abnormal vibratory sensation below the T6 segmental level after injuring his cervical spine after a fall. Cervical magnetic resonance imaging (MRI) revealed ossification of the posterior longitudinal ligament, spinal stenosis, and a C3-4 spinal cord injury. A thoracic MRI did not reveal a spinal cord lesion. Lower thoracic dermatomal somatosensory evoked potentials showed delayed latency. The findings in this case indicate selective injury to the fasciculus gracilis at the level of the cervical spinal cord.

Preparation of chitosan-TPP microspheres as resveratrol carriers.

Resveratrol (3,4',5-trihydroxy-trans-stilbene)-loaded chitosan-sodium tripolyphosphate (TPP) microspheres using high (310 to 375 kDa) and medium (190 to 310 kDa) molecular weight chitosan and TPP in varying concentrations were produced to improve resveratrol bioavailability. A 450 µm nozzle encapsulator was used to produce the microspheres. The mean microsphere particle size was between 160 and 206 µm, and exhibited a narrower size distribution as the TPP solution concentration increased. The encapsulation efficiency increased from 94% to 99% with a decrease in chitosan concentration from 1% to 0.5% and a decrease in crystallinity of the microspheres. FTIR data showed a polyelectrolyte interaction between chitosan and TPP. X-ray diffraction patterns were matched up with DSC and FTIR, which shows decrease of crystallinity and enhancement of hydrogen bonding with TPP concentration. An increase in the concentration of TPP solution from 1% to 3% led to a lower initial burst of resveratrol release. These results suggest that chitosan-TPP microspheres could be used as a potential delivery system to control the release of resveratrol.

Traumatic atlanto-occipital dislocation presenting with Dysphagia as the chief complaint: a case report.

We report a patient with traumatic atlanto-occipital dislocation who presented with dysphagia as the chief complaint. A 59-year-old man complained of swallowing difficulty for 2 months after trauma to the neck. On physical examination, there was atrophy of the right sternocleidomastoid and upper trapezius muscles, and the tongue was deviated to the right. In a videofluoroscopic swallowing study, penetration and aspiration were not seen, food residue remained in the right vallecula and pyriform sinus, and there was decreased motion of the soft palate, pharynx and larynx. Electromyography confirmed a right spinal accessory nerve lesion. Magnetic resonance imaging confirmed atlanto-occipital dislocation. Dysphagia in atlanto-occipital dislocation is induced by medullary compression and lower cranial nerve injury. Therefore, in survivors who are diagnosed with atlanto-occipital dislocation, any neurological symptoms should be carefully evaluated.

Effect of microparticulated wheat bran on the physical properties of bread.

Wheat bran and flour mixtures were used in a bread formulation to improve its quality characteristics. Wheat bran was microparticulated using a jet mill, and this microparticulated wheat bran (MWB) was substituted for a portion of wheat flour. As the MWB content increased, water-holding capacity, hardness and springiness increased while the swelling property decreased slightly. The hardness of bread containing MWB was lower than that made with commercial whole wheat flour (WWF). Bread containing 7% MWB had a higher specific volume (8.3%) than that of WWF bread. Enthalpy of dough decreased with increasing MWB content, and peak viscosity and breakdown decreased with increasing setback. Inner crust structures of bread containing MWB showed a slight reduction in gelatinization and gluten development in comparison with wheat bread. These results indicate that MWB could be used as a diet-enriching bread ingredient while maintaining bread quality.

Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl(-)-rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene, which encodes a coupled Cl(-)/HCO(3)(-) exchanger in the ileum and colon, are known to cause CLD. Although there are a few reports of CLD patients in Korea, none of these had been confirmed by genetic analysis. Here, we describe the case of a Korean infant with clinical features of CLD. Using direct sequencing analysis, we identified 2 sequence variants: a missense variant of unknown significance (c.525G>C; p.Arg175 Ser) and a splicing mutation (c.2063-1G>T) in the SLC26A3 gene; these had been inherited from the father and mother, respectively. Whilst CLD is rare, its main symptom, diarrhea, is very common in infants. Hence, the diagnosis of CLD can prove difficult. Mutational analysis of the SLC26A3 gene should be considered as a viable method to confirm a diagnosis of CLD in Korean infants with persistent diarrhea.

Globus pallidus interna deep brain stimulation improves chorea and functional status in a patient with chorea-acanthocytosis.

We report a 39-year-old woman with chorea-acanthocytosis (ChAc) who was referred with refractory hyperkinetic movement and truncal bending spasm. She was diagnosed with ChAc with clinical features and laboratory findings of acanthocytosis in peripheral blood smear, and genetic studies revealed novel mutations in the VPS13 gene. Because her symptoms did not respond well to medical treatment, she was in a totally dependent state. We decided to perform globus pallidus interna deep brain stimulation (GPi-DBS) for symptom control. After the operation her hyperkinetic movement, bradykinesia, and truncal bending motion were improved, the preoperative total score of the motor section on the Unified Huntington's Disease Rating Scale (UHDRS) was 44, the independence scale was 50, and functional capacity was 1. However, a year after GPi-DBS, the postoperative score on the motor section was 12, the independence scale was 80, functional capacity was 9, and she had become capable of independent daily life. Although there is currently no curative treatment for ChAc, GPi-DBS represents a promising option for symptomatic control.

Reduction in fat uptake of doughnut by microparticulated wheat bran.

Wheat flour-microparticulated wheat bran (MWB) mixture and composites were prepared, and their potential as an oil repellent was evaluated in doughnuts. As MWB content increased, the oil-holding capacity decreased, and there were significant changes in water-holding capacity (p < 0.05). As MWB content increased, the fat content of doughnuts decreased. In addition, the wheat flour-MWB composite was more effective for preventing fat uptake than the wheat flour-MWB mixture. The hardness of the composite was higher than the mixture, although volume and weight decreased and surface colour became darker than that of the mixture. As the proportion of wheat bran in the doughnut formulation increased, the inner crust achieved a uniform cell size and cellular integrity was improved. Based on these data, wheat flour-MWB composites are appropriate for use in doughnut formulas with low fat uptake.

Genotype variability and clinical features of human metapneumovirus isolated from Korean children, 2007 to 2010.

This study was undertaken to determine the genotype variability of human metapneumovirus (hMPV) and its circulation pattern over a 3.5-year period, and to evaluate its clinical characteristics in Korean children. We investigated 4599 pediatric patients who were referred for a routine respiratory virus test by RT-PCR. hMPV genotype analyses were performed using a nested PCR-restriction fragment length polymorphism assay. Clinical and laboratory data obtained from medical records were reviewed retrospectively. Of the 4599 samples tested, 325 (7.1%) were positive for hMPV, and the co-infection rate among these 325 was 16%. Nested PCR-restriction fragment length polymorphism analysis clearly identified four of the five hMPV genotypes (A2a, A2b, B1, and B2) in 97.8%. The predominant genotype of hMPV changed over the 3.5-year study period from genotype A2a to B2 and then back to A2a. The most common genotype was A2a (214/325, 65.8%). Evidence of recurrent infection was obtained in one child only. Lymphocytosis was more frequent in children with a co-infection, but sputum production was less frequent than in children with a single infection. In genotype A2a hMPV-infected children, sneezing and neutrophilia were more frequent than in genotype B1 or B2 hMPV-infected children. This study broadens knowledge regarding the prevalence, the seasonal incidence, the occurrences of co-infection and re-infection, and the genotype diversity of hMPV in Korea.

A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity.

BACKGROUND: Although leucine-rich repeat kinase 2 (LRRK2) is the gene most commonly linked to autosomal dominant inherited Parkinson's disease (PD), there have been few reports in Asia, probably because of population-specific differences in allele frequencies. METHODS: We identified a large Korean PD family with the p.Tyr1699Cys mutation in LRRK2 and analyzed genealogical, clinical, and genetic data from the family. RESULTS: Although the clinical findings of these patients were indistinguishable from those of patients with sporadic PD, the patients with the p.Tyr1699Cys mutation demonstrated clinical heterogeneity including differences in age at onset, rate of disease progression, clinical phenotype, and prognosis. CONCLUSIONS: This is the first report describing an Asian PD family with the p.Tyr1699Cys mutation in LRRK2. The affected members of this family showed clinical heterogeneity.