Prevalence and clinical characteristics of Sarcopenia in older adult patients with stable chronic obstructive pulmonary disease: a cross-sectional and follow-up study.

BACKGROUND: The relationship between sarcopenia and chronic obstructive pulmonary disease (COPD) has been increasingly reported, and there is some overlap regarding their clinical features and pulmonary rehabilitation (PR) strategies. No Korean study has reported the actual prevalence of sarcopenia in patients with stable COPD who are recommended for pulmonary rehabilitation. This study evaluated the prevalence and clinical features of sarcopenia in older adult outpatients with stable COPD and the changes after 6 months. METHODS: In this cross-sectional and 6-month follow-up study, we recruited 63 males aged ≥ 65 diagnosed with stable COPD. Sarcopenia was diagnosed using the AWGS 2019 criteria, which included hand grip strength testing, bioelectrical impedance analysis, Short Physical Performance Battery administration, and Strength, Assistance with walking, Rising from a chair, Climbing stairs, and Falling screening tool administration. A 6-minute walk test (6 MWT) was conducted, forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), maximal inspiratory and expiratory pressures (MIP and MEP, respectively) and peak expiratory flow (PEF) were assessed, and patient-reported questionnaires were administered. RESULTS: At baseline, 14 (22%) patients were diagnosed with possible sarcopenia, and eight (12.6%) were diagnosed with sarcopenia. There were significant differences in the age; body mass index; Body mass index, airflow Obstruction, Dyspnea, and Exercise index; modified Medical Research Council dyspnea scores; and International Physical Activity Questionnaire scores between the normal and sarcopenia groups. Whole-body phase angle, MIP, MEP, PEF, and 6-minute walk distance (6 MWD) also showed significant differences. Over 6 months, the proportion of patients with a reduced FEV1 increased; however, the proportion of patients with sarcopenia did not increase. CONCLUSION: A relatively low prevalence of sarcopenia was observed in older adult outpatients with stable COPD. No significant change in the prevalence of sarcopenia was found during the 6-month follow-up period. TRIAL REGISTRATION: The study was registered with the Clinical Research Information Service (KCT0006720). Registration date: 30/07/2021.

Epidemiology and Assessment of Traumatic Spinal Cord Injury With Concomitant Brain Injury: An Observational Study in a Regional Trauma Center.

OBJECTIVE: : To analyze the epidemiological information of patients with traumatic spinal cord injury (SCI) and concomitant traumatic brain injury (TBI) and to suggest points to be aware of during the initial physical examination of patients with SCI. METHODS: : This study was a retrospective, observational study conducted in a regional trauma center. All the records of patients diagnosed with traumatic SCI between 2016 and 2020 were reviewed. A total of 627 patients with confirmed traumatic SCI were hospitalized. A retrospective study was conducted on 363 individuals. RESULTS: : The epidemiological data of 363 individuals were investigated. Changes in American Spinal Injury Association Impairment Scale (AIS) scores in patients with SCI were evaluated. The initial evaluation was performed on average 11 days after the injury, and a follow-up examination was performed 43 days after. Fourteen of the 24 patients identified as having AIS A and SCI with concomitant TBI in the initial evaluation showed neurologic level of injury (NLI) recovery with AIS B or more. The conversion rate in patients with SCI and concomitant TBI exceeded that reported in previous studies in individuals with SCI. CONCLUSIONS: : Physical, cognitive, and emotional impairments caused by TBI present significant challenges in rehabilitating patients with SCI. In this study, the influence of concomitant TBI lesions could have caused the initial AIS assessment to be incorrect.

Effects of hip brace on coxa valga in nonambulatory children with cerebral palsy: A randomized controlled trial.

BACKGROUND: Coxa valga, measured as the neck-shaft angle (NSA) or head-shaft angle (HSA), is regarded as a potential risk factor for hip dislocation in patients with cerebral palsy. We investigated the effects of a novel hip brace on coxa valga. METHODS: A prospective, multicenter, assessor-blinded, randomized controlled trial was conducted from July 2019 to November 2021. Children with cerebral palsy aged 1 to 10 years with Gross Motor Function Classification System levels IV and V were recruited. The study group wore a hip brace for at least 12 hour a day. A lower strap of the hip brace was designed to prevent coxa valga biomechanically. The effectiveness of the hip brace on coxa valga was assessed by measurement of the NSA and head-shaft angle at enrollment and 6 and 12 months after enrollment. RESULTS: Sixty-six participants were enrolled, and 33 patients were assigned to each group. Changes in the mean NSA of both sides and the NSA of left side showed significant differences between the 2 groups over 12 months (mean NSA of both sides, -1.12 ± 3.64 in the study group and 1.43 ± 3.75 in the control group, P = .023; NSA of the left side, -1.72 ± 5.38 in the study group and 2.01 ± 5.22 in the control group, P = .008). CONCLUSIONS: The hip brace was effective in preventing the progression of coxa valga and hip displacement, suggesting that the prevention of coxa valga using hip brace is a contributing factor in prevention of hip displacement.

Highly Sensitive and Specific Detection of Influenza A Viruses Using Bimolecular Fluorescence Complementation (BiFC) Reporter System.

In this study, we developed a highly sensitive and specific bimolecular fluorescence complementation (BiFC)-based influenza A virus (IAV)-sensing system by combining a galactose/glucose-binding protein (GGBP) with an N-terminal large domain (YN1-172) and a C-terminal small domain (YC173-239) made up of enhanced yellow fluorescence protein (eYFP). The GGBP-based BiFC reporter exhibits the fluorescence reconstitution as a result of conformational changes in GGBP when lactose, which was derived from 6'-silalyllactose and used as a substrate for neuraminidase (NA), binds to GGBP in the presence of IAV. The system showed a linear dynamic range extending from 1 × 100 to 1 × 107 TCID50/mL, and it had a detection limit of 1.1 × 100 TCID50/mL for IAV (H1N1), demonstrating ultra-high sensitivity. Our system exhibited fluorescence intensity enhancements in the presence of IAV, while it displayed weak fluorescence signals when exposed to NA-deficient viruses, such as RSV A, RSV B, adenovirus and rhinovirus, thereby indicating selective responses for IAV detection. Overall, our system provides a simple, highly sensitive and specific IAV detection platform based on BiFC that is capable of detecting ligand-induced protein conformational changes, obviating the need for virus culture or RNA extraction processes.

Correlation between cerebral hemodynamic functional near-infrared spectroscopy and positron emission tomography for assessing mild cognitive impairment and Alzheimer's disease: An exploratory study.

This study was performed to investigate the usefulness of functional near-infrared spectroscopy (fNIRS) by conducting a comparative analysis of hemodynamic activation detected by fNIRS and positron emission tomography (PET) and magnetic resonance imaging (MRI) in patients with mild cognitive impairment (MCI) and Alzheimer's disease (AD). Participants were divided into four groups: the subjective memory impairment (SMI), amnestic MCI (aMCI), non-amnestic MCI (naMCI), and AD groups. We recorded the hemodynamic response during the semantic verbal fluency task (SVFT) using a commercial wireless continuous-wave NIRS system. The correlation between the parameters of the neuroimaging assessments among the groups was analyzed. Region of interest-based comparisons showed that the four groups had significantly different hemodynamic responses during SVFT in the bilateral dorsolateral prefrontal cortex (DLPFC). The linear mixed effect model result indicates that the mean ΔHbO2 from the bilateral DLPFC regions showed a significant positive correlation to the overall FDG-PET after controlling for age and group differences in the fNIRS signals. Amyloid PET signals tended to better differentiate the AD group from other groups, and fNIRS signals tended to better differentiate the SMI group from other groups. In addition, a comparison between the group pairs revealed a mirrored pattern between the hippocampal volume and hemodynamic response in the DLPFC. The hemodynamic response detected by fNIRS showed a significant correlation with metabolic and anatomical changes associated with disease progression. Therefore, fNIRS may be considered as a screening tool to predict the hemodynamic and metabolic statuses of the brain in patients with MCI and AD.

Quantitative non-nutritive sucking measurement as a predictor of oral feeding readiness in newborns.

Background and purpose: The purpose of this study is to examine the relationship between the parameters of a silver nanowire-based flexible pressure sensor developed to measure the non-nutritive sucking (NNS) performance and predict the nutritive sucking status in preterm infants. Methods: Preterm infants who were referred for feeding difficulty during the transition period from tubal feeding to oral feeding were enrolled in our study. A flexible pressure sensor was used to measure the non-nutritive sucking parameters of neonates. The evaluator stimulated the infants' lips and tongue with a pacifier integrated with a sucking pressure sensor, to check whether non-nutritive sucking had occurred. When the sucking reflex was induced, it was measured. The infants' sucking characteristics were subdivided into classifications according to the NOMAS criteria and full oral feeding (FOF) status. Quantitative NNS measurement according to the feeding state was compared between groups. Results: When comparing the quantitative NNS measurement by feeding characteristics, the average sucking pressure was significantly higher in infants in the FOF capable group than those in the incomplete FOF group. In addition, the maximum and average sucking pressure was significantly higher in infants with a normal sucking pattern compared to those with a disorganized sucking pattern. The average NNS pressure was divided over the range of 0-3 kPa and the same weight was assigned to each item. When the optimal cut-off value for the sensitivity and specificity of the average NNS pressure to estimate the FOF was set, a pressure of 1.5 kPa yielded the highest sensitivity (84.62%) and specificity (67.65%) on the receiver operating characteristic (ROC) curve. The area under the curve (AUC) was 0.786, and this result was statistically significant. Conclusions: This study presents a quantitative parameter for non-nutritive sucking in preterm infants with the use of a flexible pressure sensor. Results show possible quantitative indicators that can aid in predicting when preterm infants can transition to oral feeding and their prognosis. This will serve as a basis for future research on determining the feeding transition period of newborns with health conditions that affect oral feeding.

Rapid PCR kit: lateral flow paper strip with Joule heater for SARS-CoV-2 detection.

Polymerase chain reaction (PCR)-based diagnostic kits for point-of-care (POC) testing are highly desirable to prevent the spread of infectious diseases. Here, we demonstrate a rapid PCR testing kit that involves integrating a lateral flow paper strip with a nichrome-based thin film heater. The use of a paper membrane as a PCR-solution container results in fast thermocycling without a cooler because the membrane can contain the solution with a high specific surface area where Joule heating is applied. After PCR, amplified products are simultaneously detected at the lateral flow paper strip with the naked eye. Severe acute respiratory syndrome ß-coronavirus RNA can be detected within 30 min after PCR solution injection. This work reveals that the paper membrane can act as not only a capillary flow channel but also as a promising platform for fast PCR and detection.

A new balance assessment tool for quantifying balance impairment in patients with motor incomplete spinal cord injury: Pilot study.

OBJECTIVE: This study aimed to quantitatively and objectively evaluate the balance impairment in patients with motor incomplete spinal cord injury (SCI) using a new evaluation tool for balance and to assess its role in comprehensive balance assessment. DESIGN: Retrospective pilot study. SETTING: Rehabilitation hospital. PARTICIPANTS: 14 patients with motor incomplete spinal cord injury. INTERVENTIONS: None. OUTCOME MEASURES: We retrospectively compared and analyzed the results of 14 patients with motor incomplete SCI who underwent various balance assessments, including the FRA510S test, using correlation. RESULTS: The agreement between the FRA510S and existing balance assessment was confirmed through Bland-Altman plots; moreover, high degree of agreement was observed in Berg Balance Scale in the eye closed state and in Five Times Sit-to-Stand Test in the eye open state. CONCLUSIONS: It was confirmed that the FRA510S equipment provides quantitative values for balance function. Balance assessment using the FRA510S, along with neurological, electrophysiological, and clinical tests, may provide comprehensive additional information related to falls and gait rehabilitation in patients with SCI.

Diagnosis and successful visual biofeedback therapy using fiberoptic endoscopic evaluation of swallowing in a young adult patient with psychogenic dysphagia: a case report.

Psychogenic dysphagia is a deglutition disorder characterized by a fear of swallowing, with no structural or functional causes. This report presents the case of a young male patient who had severe malnutrition due to psychogenic dysphagia and was provided visual biofeedback using fiberoptic endoscopic evaluation of swallowing (FEES). A healthy 25-year-old man presented to our clinic with a complaint of throat discomfort when swallowing that had started 6 months prior. As the symptoms worsened, he became fearful of food spreading to his lungs after swallowing and the development of respiratory difficulties. His food intake gradually decreased, resulting in a weight loss of 20 kg within 2 months. Evaluation of organic and other functional causes of dysphagia was performed, but no abnormalities were detected. The sensation of a lump in his throat, fear of swallowing, and anxiety were transformed into somatic symptoms. The patient was diagnosed with psychogenic dysphagia. After visual biofeedback by a physician who performed FEES, the patient resumed eating normally and increased his food intake. If routine tests do not reveal structural or functional causes of dysphagia, assessment of a psychogenic swallowing disorder should be considered. FEES can help in the diagnosis and management of psychogenic dysphagia.

Efficacy of a Hip Brace for Hip Displacement in Children With Cerebral Palsy: A Randomized Clinical Trial.

Importance: There is no consensus on interventions to slow the progress of hip displacement in patients with cerebral palsy. Objective: To investigate the efficacy of a novel hip brace in preventing progressive hip displacement in patients with cerebral palsy. Design, Setting, and Participants: This 2-group randomized clinical trial was conducted at 4 tertiary hospitals in South Korea from July 2019 to November 2021. Participants included children aged 1 to 10 years with nonambulatory cerebral palsy (Gross Motor Function Classification System level IV or V). Block randomization was used to assign an equal number of patients to the study and control groups via computerized random allocation sequences. Data were analyzed from November to December 2021. Interventions: The intervention group wore the hip brace for at least 12 hours a day for the study duration (ie, 12 months). Follow-up evaluations were performed after 6 and 12 months of wearing the brace. Both groups proceeded with conventional rehabilitation therapy during the trial. Main Outcomes and Measures: The primary outcome was the Reimers migration index (MI) on radiography, as assessed by 3 blinded investigators. Primary outcome variables were analyzed using linear mixed models. Secondary outcomes include change in the Caregiver Priorities & Child Health Index of Life with Disabilities, on which lower scores indicate better quality of life. Results: A total of 66 patients were included, with 33 patients (mean [SD] age, 68.7 [31.6] months; 25 [75.8%] boys) randomized to the intervention group and 33 patients (mean [SD] age, 60.7 [24.9] months; 20 [60.6%] boys) randomized to the control group. The baseline mean (SD) MI was 37.4% (19.3%) in the intervention group and 30.6% (16.3%) in the control group. The mean difference of the MI between the intervention group and control group was -8.7 (95% CI, -10.2 to -7.1) percentage points at 6 months and -12.7 (95% CI, -14.7 to -10.7) percentage points at 12 months. The changes in the Caregiver Priorities & Child Health Index of Life with Disabilities were favorable in the study group and reached statistical significance at the 6-month follow-up compared with the control group (difference, -14.2; 95% CI, -25.2 to -3.3). Conclusions and Relevance: In this randomized clinical trial, the novel hip brace was significantly effective in preventing the progression of hip displacement, compared with the control group. It effectively improved quality of life in patients with nonambulatory cerebral palsy. Therefore, hip brace use could be a promising treatment method to delay hip surgery and improve the quality of life of patients with nonambulatory cerebral palsy. Trial Registration: ClinicalTrials.gov Identifier: NCT04033289.

Correlation of Language Assessment Batteries of Toddlers With Developmental Language Delay.

OBJECTIVE: To analyze the correlation between standardized language assessment batteries of toddlers and developmental language delays. METHODS: A total of 319 children with suspected language developmental delays were enrolled in this study retrospectively. They underwent the Receptive and Expressive Vocabulary Test (REVT) for vocabulary development assessment and at least one of two language assessment batteries: The Sequenced Language Scale for Infants (SELSI) or the Preschool Receptive-Expressive Language Scale (PRES) for language development assessment. The correlation of the results for receptive and expressive language between the scales were analyzed. RESULTS: The participants were divided into two groups: SELSI and REVT (n=45) and PRES and REVT (n=273). When the children's results were classified into groups (average, mild delay, and delay), receptive and expressive scores were significantly correlated with each other in both SELSI-REVT and PRES-REVT groups. In addition, the correlation of mean developmental age between tests are analyzed. In the SELSI-REVT group, there was weak correlation of mean developmental age between tests for receptive and expressive language. In the PRES-REVT group, there was a strong positive correlation of mean developmental age for receptive and expressive language in children aged >36 months. Attention deficits during the test was found to be the statistically significant factor affecting the differences between the tests. The odds ratios for receptive and expressive language were 2.60 (95% confidence interval,1.15-5.84) and 1.94 (95% confidence interval, 1.15-3.27), respectively. CONCLUSION: This study examined the correlations and influencing factors between language development evaluation tools for toddlers. An integrated interpretation of comprehensive language and vocabulary evaluation tools may be possible in children older than 3 years of language developmental age.

Cardiac and Pulmonary Management Status of Duchenne Muscular Dystrophy in South Korea Based on Data From the National Health Insurance Database.

BACKGROUND AND PURPOSE: The purpose of this study was to determine the cardiac and pulmonary management status of patients with Duchenne muscular dystrophy (DMD) in South Korea based on the Korean National Health Insurance database. METHODS: This study used data of patients with code G71.0 in the National Health Information database, and also those with the special case of code V012. Cardiac function was assessed based on whether echocardiography and 24-h electrocardiography were performed, as well as the frequency of these investigations. Furthermore, information on the use of angiotensin-converting enzyme inhibitors (ACEi), angiotensin II receptor blockers (ARB), and beta blockers (BB) in the drug benefit list was checked. Medical charge records were also checked regarding the prescription of respiratory functional assessments and treatments. RESULTS: The diagnostic criteria were met by 479 patients, with 41% of these patients receiving a cardiac evaluation, 29.8% being prescribed ACEi at 14.4±3.7 years of age, 59.5% undergoing pulmonary function tests, and 42.1% received pulmonary rehabilitation. The age at receiving ventilator support was 19.4±2.7 years. The frequency of cardiac and respiratory function tests increased with age, but the interval between tests was longer than the recent DMD care recommendations. The trend of taking ACEi, ARB, and BB for cardiac management in South Korea did not change during the study analysis period. CONCLUSIONS: The findings of this study will contribute to recognizing the current status and the importance of applying an anticipatory approach to cardiopulmonary function in DMD patients.

Early cardiac rehabilitation after heart transplantation in a patient with limb-girdle muscular dystrophy: A case report.

RATIONALE: Cardiac rehabilitation (CR) after heart transplantation (HT) decreases the mortality rate and increases exercise capacity of patients. Dilated cardiomyopathy develops in most patients with muscular dystrophy (MD), leading to advanced heart failure, necessitating the use of left ventricular assist devices or HT. As the clinical outcomes of left ventricular assist devices and HT in patients with myopathy differ from those in patients without myopathy, CR adapted to patients with MD should be considered. PATIENT CONCERNS: A 39-year-old man with limb-girdle muscular dystrophy developed dilated cardiomyopathy and underwent HT. DIAGNOSIS: The patient was diagnosed as having limb-girdle muscular dystrophy in 1997. INTERVENTION: Early CR was performed based on the patient's physical condition and ability. OUTCOMES: With chest physiology, aerobic, and resistance exercises, the patient was able to walk using a walker 28 days after HT. This is important because his lower-extremity strength and walking ability were, to some extent, maintained after surgery. LESSONS: Since an increasing number of patients with MD are undergoing HT, specific CR programs for these patients should be discussed.

Corticosteroid use and bone health management for Duchenne muscular dystrophy in South Korea.

This study aimed to determine the current corticosteroid use and bone health management status of patients with Duchenne muscular dystrophy (DMD) in South Korea. This is a national population-based study utilized information from the databased of Korean National Health Insurance Database. Database regarding bone status, spine radiography findings, bone mineral density, and laboratory test results were obtained, as well as the proportion of patients with spine and lower limb prostheses, occurrence of scoliosis, and age at scoliosis surgery. Deflazacort dose in the ambulant group (aged < 15 years) increased by age and year. The maintenance dose of prednisolone and deflazacort for the 15-19 years group decreased by year. Among the patients, 12.47% underwent spine radiography, 23.11% underwent dual-energy X-ray absorptiometry, and 22.7% underwent vitamin D tests. Moreover, 40.9% of the patients were prescribed vitamin D at a mean age of 14.6 ± 6.1 years, while 10.22% were prescribed bisphosphonate at 17.92 ± 3.4 years. Further, 16.1% of the patients underwent posterior spinal instrumentation and fusion at 14.4 ± 2.3 years and 5.3% underwent anterior spinal instrumentation and fusion at 14.4 ± 2.3 years. Ankle-foot orthosis and spine orthosis prescriptions were noted in 4.91% and 1.84% of patients, respectively. In this our study, the current corticosteroid use and bone health management status of DMD in South Korea has been presented. The dose prescription for corticosteroid and bone health monitoring did not reach to current recommendation.

Is Age-Predicted Maximal Heart Rate Applicable in Patients With Heart or Lung Disease?

OBJECTIVE: To compare the predicted and actual maximal heart rate (HRmax) values in the cardiopulmonary exercise test (CPET). METHODS: We retrospectively investigated 1,060 patients who underwent a CPET between January 2016 and April 2020 at our institution's cardiopulmonary rehabilitation center. The following patients were included: those aged >20 years, those tested with a treadmill, and those who underwent symptom-limited maximum exercise testing- reaching ≥85% of the predicted HRmax (62% if taking beta-blockers) and highest respiratory exchange ratio ≥1.1. Ultimately, 827 patients were included in this study. Data on diagnosis, history of taking beta-blockers, age, body mass index (BMI), and CPET parameters were collected. Subgroup analysis was performed according to age, betablockers, BMI (low <18.5 kg/m2, normal, and high ≥25 kg/m2), and risk classification. RESULTS: There was a significant difference between the actual HRmax and the predicted value (p<0.001). Betablocker administration resulted in a significant difference in the actual HRmax (p<0.001). There were significant differences in the moderate-to-high-risk and low-risk groups and the normal BMI and high BMI groups (p<0.001). There was no significant difference between the elderly and younger groups. We suggest new formulae for HRmax of cardiopulmonary patients: estimated HRmax=183-0.76×age (the beta-blocker group) and etimated HRmax=210-0.91×age (the non-beta-blocker group). CONCLUSION: Age-predicted HRmax was significantly different from the actual HRmax of patients with cardiopulmonary disease, especially in the beta-blocker group. For participants with high BMI and moderate-tosevere risk, the actual HRmax was significantly lower than the predicted HRmax.

The Korean-Lung Information Needs Questionnaire: Translation, validation and clinical implications in comprehensive pulmonary rehabilitation.

PURPOSE: Chronic obstructive pulmonary disease (COPD) is characterized by airflow limitation and persistent respiratory symptoms. Several symptom-related questionnaires have been validated to improve understanding for patient with COPD. We aimed to systematically translate the English version of the Lung Information Needs Questionnaire (LINQ) into Korean and to verify the reliability, validity and clinical implications in comprehensive pulmonary rehabilitation (PR). METHODS: The original version of LINQ was translated into Korean by two translators and reviewed by the translation committee. It was then reverse translated back into English. The committee compared the reconciled version in Korean and the original version in English. A cognitive debriefing was performed on the pre-final version, and a final version, K-LINQ, was obtained. A test-retest method for the analysis of reliability was performed within 2 weeks. Concurrent validity analysis was performed using Pearson correlation test of the K-LINQ and other evaluation tools. RESULTS: A total of 110 patients were enrolled. The length, readability, understanding and suitability of the questionnaire rated well in scores for face validity of 52 Korean patients with COPD. No significant correlation was derived from the total K-LINQ and each domain with other scales such as mMRC, K-CAT and K-LCADL. The intra-class correlation coefficient of total score K-LINQ showed high reliability. Patients who attended PR showed significantly poor pulmonary function or more severe symptoms. In addition, a significantly lower score in total score and exercise domain of K-LINQ were confirmed in the group of PR attendees. CONCLUSIONS: We translated the LINQ into Korean, implemented cross-cultural adaptation and verified its validity and reliability. K-LINQ can now be useful in various clinical and research fields in the Republic of Korea and could serve a complementary role and become an axis of successful treatment strategies, including a comprehensive PR programme.

Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report.

Bone morphogenetic protein-binding endothelial cell precursor-derived regulator (BMPER) gene mutation presents a disease spectrum ranging from a mild type of ischiospinal dysostosis (ISD) to a more severe type of diaphanospondylodysostosis (DSD). It is known that BMPER gene mutations are very rare, and their resulting clinical manifestations, including musculoskeletal modifications, appear in a spectrum of various types and severity levels. With the development of genetic diagnosis, case reports of patients with specific mutations in the BMPER gene have been published. The most commonly known clinical features are kidney structural problems, including neuroblastoma and renal cysts. Meanwhile, respiratory failure is a common and fatal symptom for patients with BMPER gene mutation, but it does not appear to have been well evaluated or managed so far. We report a case of a confirmed novel mutation of c.1750delT (p.Cys584fs) in the BMPER gene in a female adolescent patient and highlight the importance of the regular assessment of respiratory failure for successful management of this condition.

Wafer-Scale LSPR Substrate: Oblique Deposition of Gold on a Patterned Sapphire Substrate.

Label-free detection of biomolecules using localized surface plasmon resonance (LSPR) substrates is a highly attractive method for point-of-care (POC) testing. One of the remaining challenges to developing LSPR-based POC devices is to fabricate the LSPR substrates with large-scale, reproducible, and high-throughput. Herein, a fabrication strategy for wafer-scale LSPR substrates is demonstrated using reproducible, high-throughput techniques, such as nanoimprint lithography, wet-etching, and thin film deposition. A transparent sapphire wafer, on which SiO2-nanodot hard masks were formed via nanoimprint lithography, was anisotropically etched by a mixed solution of H2SO4 and H3PO4, resulting in a patterned sapphire substrate (PSS). An LSPR substrate was finally fabricated by oblique deposition of Au onto the PSS, which was then applied to label-free detection of the binding events of biomolecules. To the best of our knowledge, this paper is the first report on the application of the PSS used as an LSPR template by obliquely depositing a metal.