Improvement in functional motor scores in patients with non-ambulatory spinal muscle atrophy during Nusinersen treatment in South Korea: a single center study.

We analyzed the changes in various motor function scores over a four-year period in patients with non-ambulatory spinal muscular atrophy (SMA) during Nusinersen treatment. Patients underwent Hammersmith Infant Neurological Examination (HINE) or Hammersmith Functional Motor Scale Expanded (HFMSE) before treatment, and approximately every 4 months thereafter. Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) or Children's Hospital of Philadelphia - Adult Test of Neuromuscular Disorders (CHOP ATEND), Revised Upper Limb Module (RULM), and Motor Function Measure (MFM) were performed based on baseline functional status. Narrative interviews were conducted to explore post-treatment physical improvement regarding activities of daily living (ADLs) and fatigue after ADLs. Based on HFMSE results, 9 patients achieved minimum clinically important differences. Average rates of change (slopes) with corresponding 95% confidence intervals for all assessment tools were in a positive direction. CHOP-INTEND showed the most prominent improvement in children and adolescents followed by HFMSE. Improvements in CHOP-ATEND were most noticeable in adults. Improvements were accompanied by changes in ADLs as observed in the narrative interviews. It is necessary to consider various functional aspects to determine the effectiveness of Nusinersen therapy. The objective assessment of the therapeutic effect of Nusinersen in non-ambulatory SMA requires consideration of functional aspects and the related ADLs.

The Impacts of Standardized Flaxseed Meal (XanFlax) on the Physicochemical, Textural, and Sensory Properties of Muffins.

Flaxseed is becoming increasingly popular as a superfood due to its many health benefits. While flaxseed is considered an oilseed, flaxseed meal (the by-product of flaxseed oil extraction) also contains many nutritional compounds not found in the oil. This study explored the use of a Canadian flaxseed (Linum usitatissimum L.) meal product to fortify bakery foods and improve their nutritional properties. Muffins were made using a control recipe as well as four different formulations that included varying amounts of a standardized flaxseed meal supplement called XanFlax (5, 10, 20, and 40%). The physicochemical properties of the muffins, including their texture, color, sugar content, pH, specific gravity, loss rate, and moisture, were evaluated. Additionally, the sensory attributes contributing to muffin quality were thoroughly examined. The lightness (L*) and yellowness (b*) of the muffins, which were highest in the control group at 82.22 and 34.69, respectively, decreased as the amount of XanFlax increased (p < 0.05). Additionally, the redness (a*) of the muffins increased as the amount of XanFlax increased (p < 0.05). The muffins' sugar content (2.00 brix%) remained consistent across all treatments and controls except for those prepared with 20% XanFlax (2.17 brix%). As the amount of XanFlax powder increased, the pH of the muffins increased significantly. The moisture content in the muffins was highest at 23.71 ± 0.79% in the 10% XanFlax treatment and lowest at 22.06 ± 0.30% in the 40% XanFlax treatment. The muffins enriched with 5% XanFlax had an average height of 5.35 cm and volume of 131.33 mL, surpassing the results for the muffins made with other formulas (p < 0.05). Additionally, the cohesiveness and gumminess of the muffins tended to increase with the addition of XanFlax. The most favorable attributes, namely the appearance, flavor, taste, texture, and overall acceptance, were consistently associated with the 5% and 10% XanFlax treatments (p < 0.05). This study marks the first time a standardized flaxseed gum product, XanFlax, has been described in a functional baking application.

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.

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.

Analysis of Watson for oncology and clinicians' treatment recommendations for patients with breast cancer in Korea: A single center experience.

Background: Various clinical applications have been attempted using artificial intelligence (AI) clinical decision support system (CDSS), and it has become a starting point for personalized cancer treatment. We aimed to identify the degree of agreement between the AI-CDSS, Watson for Oncology (WFO), and the clinician in treatment recommendations for Korean breast cancer patients and to provide guidelines for future improvement. Methods: One hundred and eighty-three breast cancer patients who underwent treatment at the Pusan National University Hospital between January 1, 2016 and May 31, 2017 were enrolled in this study. The concordance between WFO's and clinicians' treatment recommendations were examined according to various factors. Results: WFO gave the same treatment option recommendations as clinicians in 74 (40.4%) of the cases. According to the logistic regression, the difference in recommendation concordance between stage I and stage III was statistically significant (P = 0.004), and there was no difference among other factors. Conclusion: The concordance of treatment recommendations was low overall. However, this is largely attributable to the differences of medical insurance system and healthcare environment between the United States and Korea. In the future, region-specific features should be considered or reflected during the development of AI-CDSS.

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.

Early Neurodevelopmental Assessments of Neonates Discharged From the Neonatal Intensive Care Unit: A Physiatrist's Perspective.

The survival rate of children admitted in the neonatal intensive care unit (NICU) after birth is on the increase; hence, proper evaluation and care of their neurodevelopment has become an important issue. Neurodevelopmental assessments of individual domains regarding motor, language, cognition, and sensory perception are crucial in planning prompt interventions for neonates requiring immediate support and rehabilitation treatment. These assessments are essential for identifying areas of weakness and designing targeted interventions to improve future functional outcomes and the quality of lives for both the infants and their families. However, initial stratification of risk to select those who are in danger of neurodevelopmental disorders is also important in terms of cost-effectiveness. Efficient and robust functional evaluations to recognize early signs of developmental disorders will help NICU graduates receive interventions and enhance functional capabilities if needed. Several age-dependent, domain-specific neurodevelopmental assessment tools are available; therefore, this review summarizes the characteristics of these tools and aims to develop multidimensional, standardized, and regular follow-up plans for NICU graduates in Korea.

Neuropsychological, neuroimaging and autopsy findings of butane encephalopathy.

BACKGROUND: Butane is an aliphatic hydrocarbon used in various commercial products. While numerous reports of sudden cardiac-related deaths from butane inhalation have been described, butane-associated acute encephalopathy has rarely been reported. CASE PRESENTATION: A 38-year-old man presented with cognitive dysfunction after butane gas inhalation. Neuropsychological test results showed impairments in verbal and visual memory, and frontal executive function. Diffusion weighted MRI revealed symmetric high-signal changes in the bilateral hippocampus and globus pallidus. FDG-PET demonstrated decreased glucose metabolism in the bilateral precuneus and occipital areas and the left temporal region. At the 8-month follow-up, he showed still significant deficits in memory and frontal functions. Diffuse cortical atrophy with white matter hyperintensities and extensive glucose hypometabolism were detected on follow-up MRI and FDG-PET, respectively. Brain autopsy demonstrated necrosis and cavitary lesions in the globus pallidus. CONCLUSIONS: Only a few cases of butane encephalopathy have been reported to date. Brain lesions associated with butane encephalopathy include lesions in the bilateral thalamus, insula, putamen, and cerebellum. To the best of our knowledge, this is the first report on bilateral hippocampal and globus pallidal involvement in acute butane encephalopathy. The pathophysiology of central nervous system complications induced by butane intoxication is not yet fully understood. However, the direct toxic effects of butane or anoxic injury secondary to cardiac arrest or respiratory depression have been suggested as possible mechanisms of edematous changes in the brain after butane intoxication.

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.

A Predictive Model for Dysphagia after Ventilator Liberation in Severe Pneumonia Patients Receiving Tracheostomy: A Single-Center, Observational Study.

The main purpose of this study was to develop a model predictive of dysphagia in hospital survivors with severe pneumonia who underwent tracheostomy during their hospital stay. The present study included 175 patients (72% male; mean age, 71.3 years) over 5 years. None of these patients had a history of deglutition disorder before hospital admission. Binary logistic regression analysis was performed to identify factors predicting dysphagia at hospital discharge. Dysphagia scores were calculated from ß-coefficients and by assigning points to variables. Of the enrolled patients, 105 (60%) had dysphagia at hospital discharge. Factors prognostic of dysphagia at hospital discharge included being underweight (body mass index < 18.5 kg/m2), non-participation in a dysphagia therapy program, mechanical ventilation ≥ 15 days, age ≥ 74 years, and chronic neurologic diseases. Underweight and non-participation in a dysphagia therapy program were assigned +2 points and the other factors were assigned +1 point. Dysphagia scores showed acceptable discrimination (area under the receiver operating characteristic curve for dysphagia 0.819, 95% confidence interval: 0.754−0.873, p < 0.001) and calibration (Hosmer−Lemeshow chi-square = 9.585, with df 7 and p = 0.213). The developed dysphagia score was predictive of deglutition disorder at hospital discharge in tracheostomized patients with severe pneumonia.

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.

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.

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.

Cancer Rehabilitation Fact Sheet in Korea.

Cancer rehabilitation aims to enable patients to maximize their physical, social, psychological, and vocational functions within the limits that arise during the course of the disease and its treatment. According to recent domestic studies, most patients report one or more physical problems during or after cancer treatment. This review presents the latest updates on cancer-related rehabilitation issues. Cancer rehabilitation in Korea still faces various barriers, including a lack of awareness, problems with the healthcare delivery system, and high costs, and recognizing the need for rehabilitation during cancer treatment varies among patients and even physicians. Hence, an appropriate cooperative referral system for cancer rehabilitation requires improvement. We herein review the current status of and barriers to cancer rehabilitation in South Korea to resolve the issues of domestic cancer rehabilitation.

Outcomes of lipectomy in patients with advanced unilateral upper extremity lymphedema with regard to the difference in time required for indocyanine green to reach the axilla: A retrospective cohort study in a single center.

This study aimed to compare and analyze the prognosis after lipectomy with respect to the difference in time required for indocyanine green (ICG) to reach the axilla in patients with advanced unilateral upper extremity lymphedema. The study population was divided into 2 groups, according to the time required by ICG to reach the axilla after injection, that is, <1 hour (<1 hour; n = 9) and over 1 hour (>1 hour; n = 8). The patient's arm volume was examined before surgery and up to 12 months after surgery. The volume difference between the 2 groups was compared using the excess volume ratio. Statistically significant differences were not observed before surgery (P = .847) and 1 month (P = .336), 3 months (P = .630), and 6 months after surgery (P = .124) between the excess volume ratio values of the < 1 hour and > 1 hour groups. A statistically significant difference was confirmed 12 months after surgery (P = .034). The difference in the time when ICG reached the axilla in patients with lymphedema was associated with prognosis after lipectomy. The difference in time could possibly be used as a variable to classify the progress of lymphedema in the future.

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.

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.