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.

Comprehensive Assessment of Lower Limb Function and Muscle Strength in Sarcopenia: Insights from the Sit-to-Stand Test.

The sit-to-stand test is an essential tool used to assess lower limb function and muscle strength in older adults and various patient populations, and also plays a role in sarcopenia screening. Among its forms, the five-time sit-to-stand test (FTSST) is widely used, with previous studies suggesting cutoff values of >10 seconds and >11 seconds for the sitting-to-standing and standing-to-sitting transitions, respectively. The 30-second and 1-minute sit-to-stand tests (30STS and 1MSTS, respectively) also provide comprehensive assessments. While much of the current research on sarcopenia focuses on the FTSST, there is a burgeoning need for an in-depth exploration of the 30STS and 1MSTS. Studies on these tests are vital to refine the criteria for sarcopenia, establish accurate cutoff values, and enhance diagnostic precision and treatment effectiveness. This need highlights the importance of further research into the 30STS and 1MSTS for refining the diagnostic criteria for sarcopenia.

Erratum: Correction of Tables in the Article "Reference Respiratory Muscle Strength Values and a Prediction Equation Using Physical Functions for Pulmonary Rehabilitation in Korea".

This corrects the article on p. e325 in vol. 38, PMID: 37846788.

Differences in muscle activity during squat exercises according to the knee angle and standing angle of a sliding tilt table: A comparative study.

BACKGROUND AND PURPOSE: Weight-bearing exercises can help improve physical function; however, they may be difficult to perform in patients with neurological issues or lower limb fractures. The purpose of this study was to evaluate the activity of the leg muscles during squatting when using a new exercise aid designed to help patients with difficulty in performing squats, termed the sliding tilt table, at different knee angles and to estimate the squat level for each angle. METHODS: This study was a cross-sectional, observational study performed in the general community. Participants comprised 30 healthy adult men. Squats were performed by setting the knee joints at 30, 60, and 90° and the tilt table angles to 15, 30, and 45°. The muscle activity of the vastus medialis, tibialis anterior, and gastrocnemius was measured using surface electromyography. RESULTS: As the tilt table and knee joint angle increased, the %maximal voluntary isometric contraction increased. Similar patterns were found in both legs. CONCLUSIONS: Weight-bearing exercises, such as squats, are important exercise elements in patients who require lower limb rehabilitation. Therefore, it is necessary to provide efficient lower limb rehabilitation exercises by adjusting the squat level according to the patient's ability, which can be achieved using a sliding tilt table.

Reliability Analysis of PAUT Based on the Round-Robin Test for Pipe Welds with Thermal Fatigue Cracks.

Thermal fatigue cracks occurring in pipes in nuclear power plants pose a high degree of risk. Thermal fatigue cracks are generated when the thermal fatigue load caused by local temperature gradients is repeatedly applied. The flaws are mainly found in welds, owing to the effects of stress concentration caused by the material properties and geometric shapes of welds. Thermal fatigue pipes are classified as targets of risk-informed in-service inspection, for which ultrasonic testing, a volumetric non-destructive testing method, is applied. With the advancement of ultrasonic testing techniques, various studies have been conducted recently to apply the phased array ultrasonic testing (PAUT) method to the inspection of thermal fatigue cracks occurring on pipes. A quantitative reliability analysis of the PAUT method must be performed to apply the PAUT method to on-site thermal fatigue crack inspection. In this study, to evaluate the quantitative reliability of the PAUT method for thermal fatigue cracks, we fabricated crack specimens with the thermal fatigue mechanism applied to the pipe welds. We performed a round-robin test to collect PAUT data and determine the validity of the detection performance (probability of detection; POD) and the error in the sizing accuracy (root-mean-square error; RMSE) evaluation. The analysis results of the POD and sizing performance of the length and depth of thermal fatigue cracks were comparatively evaluated with the acceptance criteria of the American Society of Mechanical Engineers Code to confirm the effectiveness of applying the PAUT method.

Reference Respiratory Muscle Strength Values and a Prediction Equation Using Physical Functions for Pulmonary Rehabilitation in Korea.

BACKGROUND: In Korea, tests for evaluating respiratory muscle strength are based on other countries' clinical experience or standards, which can lead to subjective evaluations. When evaluating respiratory function based on the standards of other countries, several variables, such as the race and cultures of different countries, make it difficult to apply these standards. The purpose of this study was to propose objective respiratory muscle strength standards and predicted values for healthy Korean adults based on age, height, weight, and muscle strength, by measuring maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP), and peak cough flow (PCF). METHODS: This cross-sectional study analyzed MIP, MEP, and PCF in 360 people, each group comprising 30 adult men and women aged 20-70, diagnosed as healthy after undergoing medical check-ups at a general hospital. Hand grip strength (HGS) and the five times sit-to-stand test (FTSST) results were also recorded. Correlations among respiratory muscle strength, participant demographics, and overall muscle strength were evaluated using Pearson's correlation analysis. The predicted values of respiratory muscle strength were calculated using multiple regression analysis. RESULTS: Respiratory muscle strength differed from the values reported in studies from other countries. In the entire samples, both MIP and MEP had the highest correlations with peak HGS (r = 0.643, r = 0.693; P < 0.05), while PCF had the highest correlation with forced expiratory volume in 1 s (r = 0.753; P < 0.05). Age, body mass index, peak HGS, and FTSST results were independent variables affecting respiratory muscle strength. A predictive equation for respiratory muscle strength was developed using the multiple regression equation developed in this study. CONCLUSION: Respiratory muscle strength index may differ by country. For more accurate diagnoses, standard values for each country are required. This study presents reference values for Korea, and a formula for estimation is proposed when no respiratory muscle strength measurement equipment is available. TRIAL REGISTRATION: Clinical Research Information Service Identifier: KCT0006778.

Effectiveness of an Exercise Program for Older Adults Using an Augmented Reality Exercise Platform: A Pilot Study.

BACKGROUND: With the rapid progression of population aging worldwide, the health management of older adults is emerging as an important topic. To help prevent declines in physical and cognitive function due to aging, older adults must maintain consistent physical activity. The development of digital technology has recently allowed the optimization of exercise programs for older adults using augmented reality (AR) game technology. METHODS: Fifteen older adult females were enrolled in an AR-based exercise program. The program was conducted for 30 minutes, three times weekly, for a total of 6 weeks. To verify the effectiveness of the program and assess physical function before and after exercise, the following tests were performed: timed up-and-go test, five times sit-to-stand test, 1-minute sit-to-stand test, lung capacity test, respiratory muscle strength test, and bioelectrical impedance analysis. The Trail Making Test was used to evaluate cognitive function. For statistical analysis, a paired t-test was used to verify the effects on physical and cognitive function before and after exercise. RESULTS: The study results confirmed improved overall physical and cognitive function. The timed up-and-go test, maximal inspiratory pressure, and Trail Making Test part B scores showed significant increases. CONCLUSION: This study verified the effectiveness of AR exercise in community-dwelling older adult women. In the future, exercise programs with game elements that increase the interest and motivation of participants to engage in exercise routines should be developed and applied.

The impact of posture correction bands on the respiratory function of healthy adults in their twenties: The difference between men and women.

INTRODUCTION: Recently, interest in posture correction has increased in Korea owing to increased smartphone usage. However, there have been no studies to evaluate the impact of wearing a posture correction band with an abdominal band on breathing and respiratory function. MATERIALS AND METHODS: A total of 32 healthy adults, consisting of 16 men (mean age: 23.19 ± 2.88) and 16 women (mean age: 19.69 ± 1.49) participated in this study. Pulmonary function tests were conducted before and after wearing posture correction bands. RESULTS: In all the participants, forced vital capacity decreased significantly (P < .05) after wearing a posture correction band. The forced expiratory volume in 1 second and maximal inspiratory pressure decreased slightly (P > .05). The maximal expiratory pressure (MEP) and peak cough flow (PCF) increased slightly (P > .05). When respiratory functions were monitored separately in men and women after wearing a posture correction band, forced vital capacity and forced expiratory volume in 1 second were significantly reduced in men (P < .05). In women, MEP and PCF increased significantly (P < .05). CONCLUSIONS: In this study, we confirmed that the posture correction band had an effect on respiratory function. Lung capacity was statistically significantly reduced but was not clinically significant. In addition, in the case of women, it was confirmed that the abdominal band improved the MEP and PCF.

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.

Clinical application of an algorithm to screen for malignant cells in body fluids using an automated hematology analyzer.

INTRODUCTION: The detection of malignant cells in body fluids (BF) with an automated hematology analyzer has been proposed as an alternative to morphological examination owing to its various advantages; however, its limitations have also been highlighted. In this study, we devised a practical algorithm to screen for malignant cells in BFs using an automated hematology analyzer. METHODS: A total of 558 BF samples, including 232 cerebrospinal fluid (CSF) samples and 326 non-CSF samples, were consecutively collected. Thereafter, the results obtained using the BF mode of Sysmex XN-350 (Sysmex, Kobe, Japan) were compared with the cytological diagnosis. A cutoff was also established to screen for malignant cells using receiver operating characteristic (ROC) curve analysis based on the final clinical judgment. RESULTS: The automated hematology analyzer showed a moderate correlation or good agreement with the existing cytological diagnosis. Further, of the ROC curves for detecting malignant cells, the absolute value of highly fluorescent cells on BF (HF-BF) in total body fluids showed the highest area under the curve (0.85 [95% confidence interval 0.82-88], p < .0001, Youden index >7×106 /L, sensitivity 93%, and specificity 65%). CONCLUSION: An automated hematology analyzer could function as a complement to cytological examination. We propose a practical and comprehensive algorithm for cytological examination that requires low- and high-resolution microscopy based on the absolute value of HF-BF in BF samples suspected of malignancy. This algorithm can more usefully detect malignant cells while taking advantage of the automated analyzer and cytological examination.

Genetic and histopathological associations with outcome in pediatric pilocytic astrocytoma.

OBJECTIVE: Pilocytic astrocytomas (PAs) have a generally favorable prognosis; however, progression or recurrence after resection is possible. The prognostic value of histopathological qualifiers (defined below) or BRAF alterations is not well understood. The aim of this study was to identify the prognostic value of genetic and histopathological features of pediatric PAs. METHODS: Patients treated for a WHO grade I PA at a single institution were analyzed for histopathological and genetic features and outcomes. "Histopathological qualifier" refers to designations such as "WHO grade I PA with increased proliferative index." BRAF alterations include gene fusions and point mutations. Patients with neurofibromatosis type 1 were excluded. RESULTS: A total of 222 patients were analyzed (51% female, mean age 9.6 years). Tumors were located in the cerebellum/fourth ventricle (51%), optic pathway/hypothalamus (15%), brainstem (12%), and cerebral cortex (11%). BRAF alterations were screened for in 77 patients and identified in 56 (73%). Histopathological qualifiers were present in 27 patients (14%). Resection was performed in 197 patients (89%), 41 (21%) of whom displayed tumor progression or recurrence after resection. Tumor progression or recurrence was not associated with histopathologic qualifiers (p = 0.36) or BRAF alterations (p = 0.77). Ki-67 proliferative indices were not predictive of progression or recurrence (p = 0.94). BRAF alterations, specifically KIAA1549 fusions, were associated with cerebellar/fourth ventricular tumor location (p < 0.0001) and younger patient age (p = 0.03). Patients in whom gross-total resection was achieved had lower rates of progression and recurrence (p < 0.0001). CONCLUSIONS: Histopathological features/qualifiers and BRAF alterations were not associated with tumor recurrence/progression in pediatric PAs. The extent of resection was the only factor analyzed that predicted outcome.

A multicenter validation of the condylar-C2 sagittal vertical alignment in Chiari malformation type I: a study using the Park-Reeves Syringomyelia Research Consortium.

OBJECTIVE: The condylar-C2 sagittal vertical alignment (C-C2SVA) describes the relationship between the occipitoatlantal joint and C2 in patients with Chiari malformation type I (CM-I). It has been suggested that a C-C2SVA ≥ 5 mm is predictive of the need for occipitocervical fusion (OCF) or ventral brainstem decompression (VBD). The authors' objective was to validate the predictive utility of the C-C2SVA by using a large, multicenter cohort of patients. METHODS: This validation study used a cohort of patients derived from the Park-Reeves Syringomyelia Research Consortium; patients < 21 years old with CM-I and syringomyelia treated from June 2011 to May 2016 were identified. The primary outcome was the need for OCF and/or VBD. After patients who required OCF and/or VBD were identified, 10 age- and sex-matched controls served as comparisons for each OCF/VBD patient. The C-C2SVA (defined as the position of a plumb line from the midpoint of the O-C1 joint relative to the posterior aspect of the C2-3 disc space), pBC2 (a line perpendicular to a line from the basion to the posteroinferior aspect of the C2 body), and clival-axial angle (CXA) were measured on sagittal MRI. The secondary outcome was the need for ≥ 2 CM-related operations. RESULTS: Of the 206 patients identified, 20 underwent OCF/VBD and 14 underwent repeat posterior fossa decompression. A C-C2SVA ≥ 5 mm was 100% sensitive and 86% specific for requiring OCF/VBD, with a 12.6% misclassification rate, whereas CXA < 125° was 55% sensitive and 99% specific, and pBC2 ≥ 9 was 20% sensitive and 88% specific. Kaplan-Meier analysis demonstrated that there was a significantly shorter time to second decompression in children with C-C2SVA ≥ 5 mm (p = 0.0039). The mean C-C2SVA was greater (6.13 ± 1.28 vs 3.13 ± 1.95 mm, p < 0.0001), CXA was lower (126° ± 15.4° vs 145° ± 10.7°, p < 0.05), and pBC2 was similar (7.65 ± 1.79 vs 7.02 ± 1.26 mm, p = 0.31) among those who underwent OCF/VBD versus decompression only. The intraclass correlation coefficient for the continuous measurement of C-C2SVA was 0.52; the kappa value was 0.47 for the binary categorization of C-C2SVA ≥ 5 mm. CONCLUSIONS: These results validated the C-C2SVA using a large, multicenter, external cohort with 100% sensitivity, 86% specificity, and a 12.6% misclassification rate. A C-C2SVA ≥ 5 mm is highly predictive of the need for OCF/VBD in patients with CM-I. The authors recommend that this measurement be considered among the tools to identify the "high-risk" CM-I phenotype.

Epidemiology of Congenital Bleeding Disorders: a Nationwide Population-based Korean Study.

BACKGROUND: Except for data in the Korea Hemophilia Foundation Registry, little is known of the epidemiology of congenital bleeding disorders in Korea. METHODS: Data were obtained from the Korean Health Insurance Review and Assessment Service (HIRA) database. RESULTS: From 2010 to 2015, there were 2,029 patients with congenital bleeding disorders in the Korean HIRA database: 38% (n = 775) of these patients had hemophilia A (HA), 25% (n = 517) had von Willebrand disease (vWD), 7% (n = 132) had hemophilia B (HB), and 25% (n = 513) had less common factor deficiencies. The estimated age-standardized incidence rate (ASR) of HA and HB was 1.78-3.15/100,000 and 0.31-0.51/100,000, respectively. That of vWD was 1.38-1.95/100,000. The estimated ASR of HA showed increase over time though the number of new patients did not increase. Most patients with congenital bleeding disorders were younger than 19 years old (47.8%), and most were registered in Gyeonggi (22.1%) and Seoul (19.2%). CONCLUSION: This is the first nationwide population-based study of congenital bleeding disorders in Korea. This study provides data that will enable more accurate estimations of patients with vWD. This information will help advance the comprehensive care of congenital bleeding disorders. We need to continue to obtain more detailed information on patients to improve the management of these diseases.

Clinometric Gait Analysis Using Smart Insoles in Patients With Hemiplegia After Stroke: Pilot Study.

BACKGROUND: For effective rehabilitation after stroke, it is essential to conduct an objective assessment of the patient's functional status. Several stroke severity scales have been used for this purpose, but such scales have various limitations. OBJECTIVE: Gait analysis using smart insole technology can be applied continuously, objectively, and quantitatively, thereby overcoming the shortcomings of other assessment tools. METHODS: To confirm the reliability of gait analysis using smart insole technology, normal healthy controls wore insoles in their shoes during the Timed Up and Go (TUG) test. The gait parameters were compared with the manually collected data. To determine the gait characteristics of patients with hemiplegia due to stroke, they were asked to wear insoles and take the TUG test; gait parameters were calculated and compared with those of control subjects. To investigate whether the gait analysis accurately reflected the patients' clinical condition, we analyzed the relationships of 22 gait parameters on 4 stroke severity scales. RESULTS: The smart insole gait parameter data were similar to those calculated manually. Among the 18 gait parameters tested, 14 were significantly effective at distinguishing patients from healthy controls. The smart insole data revealed that the stance duration on both sides was longer in patients than controls, which has proven difficult to show using other methods. Furthermore, the sound side in patients showed a markedly longer stance duration. Regarding swing duration, that of the sound side was shorter in patients than controls, whereas that of the hemiplegic side was longer. We identified 10 significantly correlated gait parameters on the stroke severity scales. Notably, the difference in stance duration between the sound and hemiplegic sides was significantly correlated with the Fugl-Meyer Assessment (FMA) lower extremity score. CONCLUSIONS: This study confirmed the feasibility and applicability of the smart insole as a device to assess the gait of patients with hemiplegia due to stroke. In addition, we demonstrated that the FMA score was significantly correlated with the smart insole data. Providing an environment where stroke patients can easily measure walking ability helps to maintain chronic functions as well as acute rehabilitation. TRIAL REGISTRATION: UMIN Clinical Trials Registry UMIN000041646, https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000047538.

Radiological and clinical associations with scoliosis outcomes after posterior fossa decompression in patients with Chiari malformation and syrinx from the Park-Reeves Syringomyelia Research Consortium.

OBJECTIVE: In patients with Chiari malformation type I (CM-I) and a syrinx who also have scoliosis, clinical and radiological predictors of curve regression after posterior fossa decompression are not well known. Prior reports indicate that age younger than 10 years and a curve magnitude < 35° are favorable predictors of curve regression following surgery. The aim of this study was to determine baseline radiological factors, including craniocervical junction alignment, that might predict curve stability or improvement after posterior fossa decompression. METHODS: A large multicenter retrospective and prospective registry of pediatric patients with CM-I (tonsils ≥ 5 mm below the foramen magnum) and a syrinx (≥ 3 mm in width) was reviewed for clinical and radiological characteristics of CM-I, syrinx, and scoliosis (coronal curve ≥ 10°) in patients who underwent posterior fossa decompression and who also had follow-up imaging. RESULTS: Of 825 patients with CM-I and a syrinx, 251 (30.4%) were noted to have scoliosis present at the time of diagnosis. Forty-one (16.3%) of these patients underwent posterior fossa decompression and had follow-up imaging to assess for scoliosis. Twenty-three patients (56%) were female, the mean age at time of CM-I decompression was 10.0 years, and the mean follow-up duration was 1.3 years. Nine patients (22%) had stable curves, 16 (39%) showed improvement (> 5°), and 16 (39%) displayed curve progression (> 5°) during the follow-up period. Younger age at the time of decompression was associated with improvement in curve magnitude; for those with curves of ≤ 35°, 17% of patients younger than 10 years of age had curve progression compared with 64% of those 10 years of age or older (p = 0.008). There was no difference by age for those with curves > 35°. Tonsil position, baseline syrinx dimensions, and change in syrinx size were not associated with the change in curve magnitude. There was no difference in progression after surgery in patients who were also treated with a brace compared to those who were not treated with a brace for scoliosis. CONCLUSIONS: In this cohort of patients with CM-I, a syrinx, and scoliosis, younger age at the time of decompression was associated with improvement in curve magnitude following surgery, especially in patients younger than 10 years of age with curves of ≤ 35°. Baseline tonsil position, syrinx dimensions, frontooccipital horn ratio, and craniocervical junction morphology were not associated with changes in curve magnitude after surgery.

Obex position is associated with syringomyelia and use of posterior fossa decompression among patients with Chiari I malformation.

OBJECTIVE: Chiari I malformation (CM-I) has traditionally been defined by measuring the position of the cerebellar tonsils relative to the foramen magnum. The relationships of tonsillar position to clinical presentation, syringomyelia, scoliosis, and the use of posterior fossa decompression (PFD) surgery have been studied extensively and yielded inconsistent results. Obex position has been proposed as a useful adjunctive descriptor for CM-I and may be associated with clinical disease severity. METHODS: A retrospective chart review was performed of 442 CM-I patients with MRI who presented for clinical evaluation between 2003 and 2018. Clinical and radiological variables were measured for all patients, including presence/location of headaches, Chiari Severity Index (CSI) grade, tonsil position, obex position, clival canal angle, pB-C2 distance, occipitalization of the atlas, basilar invagination, syringomyelia, syrinx diameter, scoliosis, and use of PFD. Radiological measurements were then used to predict clinical characteristics using regression and survival analyses, with performing PFD, the presence of a syrinx, and scoliosis as outcome variables. RESULTS: Among the radiological measurements, tonsil position, obex position, and syringomyelia were each independently associated with use of PFD. Together, obex position, tonsil position, and syringomyelia (area under the curve [AUC] 89%) or obex position and tonsil position (AUC 85.4%) were more strongly associated with use of PFD than tonsil position alone (AUC 76%) (Pdiff = 3.4 × 10-6 and 6 × 10-4, respectively) but were only slightly more associated than obex position alone (AUC 82%) (Pdiff = 0.01 and 0.18, respectively). Additionally, obex position was significantly associated with occipital headaches, CSI grade, syringomyelia, and scoliosis, independent of tonsil position. Tonsil position was associated with each of these traits when analyzed alone but did not remain significantly associated with use of PFD when included in multivariate analyses with obex position. CONCLUSIONS: Compared with tonsil position alone, obex position is more strongly associated with symptomatic CM-I, as measured by presence of a syrinx, scoliosis, or use of PFD surgery. These results support the role of obex position as a useful radiological measurement to inform the evaluation and potentially the management of CM-I.

Acute myeloid leukemia with t(11;19)(q23;p13.1) in a patient with a gastrointestinal stromal tumor undergoing imatinib therapy: A case report.

BACKGROUND: Acute myeloid leukemia (AML) harboring 11q23 translocations is classified as therapy-related AML in patients who have undergone prior treatment with cytotoxic agents. There have been only a few reports of AML that subsequently developed during imatinib mesylate (IM) treatment for gastrointestinal stromal tumors (GISTs). CASE SUMMARY: A 63-year-old woman was diagnosed with a hepatic GIST recurrence in April 2012; she was administered IM 400 mg/d. In November 2015, she developed dyspnea with pancytopenia while IM treatment was continued for 42 mo. A chromosome study using a bone marrow sample showed a 46, XX karyotype with t(11;19)(q23;p13.1) in 22 of 26 analyzed metaphase cells. Fluorescence in situ hybridization using the locus-specific indicator (11q23) gene break-apart probe showed positive rearrangement in 82% of interphase cells. Reverse-transcription polymerase chain reactions subsequently confirmed the KMT2A/ELL transcript. She achieved complete response with incomplete neutrophil recovery with two decitabine treatment cycles. After the third cycle of decitabine, the disease relapsed, and she refused further treatment. She died of hemorrhagic stroke 5 mo after diagnosis. To the best of our knowledge, this is the first report of AML with KMT2A gene rearrangements in a patient with a GIST receiving IM treatment. CONCLUSION: Physicians should consider the potential risks of developing hematologic malignancies, including therapy-related AML, in patients with GISTs receiving IM treatment.

Factors associated with syrinx size in pediatric patients treated for Chiari malformation type I and syringomyelia: a study from the Park-Reeves Syringomyelia Research Consortium.

OBJECTIVE: Factors associated with syrinx size in pediatric patients undergoing posterior fossa decompression (PFD) or PFD with duraplasty (PFDD) for Chiari malformation type I (CM-I) with syringomyelia (SM; CM-I+SM) are not well established. METHODS: Using the Park-Reeves Syringomyelia Research Consortium registry, the authors analyzed variables associated with syrinx radiological outcomes in patients (< 20 years old at the time of surgery) with CM-I+SM undergoing PFD or PFDD. Syrinx resolution was defined as an anteroposterior (AP) diameter of ≤ 2 mm or ≤ 3 mm or a reduction in AP diameter of ≥ 50%. Syrinx regression or progression was defined using 1) change in syrinx AP diameter (≥ 1 mm), or 2) change in syrinx length (craniocaudal, ≥ 1 vertebral level). Syrinx stability was defined as a < 1-mm change in syrinx AP diameter and no change in syrinx length. RESULTS: The authors identified 380 patients with CM-I+SM who underwent PFD or PFDD. Cox proportional hazards modeling revealed younger age at surgery and PFDD as being independently associated with syrinx resolution, defined as a ≤ 2-mm or ≤ 3-mm AP diameter or ≥ 50% reduction in AP diameter. Radiological syrinx resolution was associated with improvement in headache (p < 0.005) and neck pain (p < 0.011) after PFD or PFDD. Next, PFDD (p = 0.005), scoliosis (p = 0.007), and syrinx location across multiple spinal segments (p = 0.001) were associated with syrinx diameter regression, whereas increased preoperative frontal-occipital horn ratio (FOHR; p = 0.007) and syrinx location spanning multiple spinal segments (p = 0.04) were associated with syrinx length regression. Scoliosis (HR 0.38 [95% CI 0.16-0.91], p = 0.03) and smaller syrinx diameter (5.82 ± 3.38 vs 7.86 ± 3.05 mm; HR 0.60 [95% CI 0.34-1.03], p = 0.002) were associated with syrinx diameter stability, whereas shorter preoperative syrinx length (5.75 ± 4.01 vs 9.65 ± 4.31 levels; HR 0.21 [95% CI 0.12-0.38], p = 0.0001) and smaller pB-C2 distance (6.86 ± 1.27 vs 7.18 ± 1.38 mm; HR 1.44 [95% CI 1.02-2.05], p = 0.04) were associated with syrinx length stability. Finally, younger age at surgery (8.19 ± 5.02 vs 10.29 ± 4.25 years; HR 1.89 [95% CI 1.31-3.04], p = 0.01) was associated with syrinx diameter progression, whereas increased postoperative syrinx diameter (6.73 ± 3.64 vs 3.97 ± 3.07 mm; HR 3.10 [95% CI 1.67-5.76], p = 0.003), was associated with syrinx length progression. PFD versus PFDD was not associated with syrinx progression or reoperation rate. CONCLUSIONS: These data suggest that PFDD and age are independently associated with radiological syrinx improvement, although forthcoming results from the PFDD versus PFD randomized controlled trial (NCT02669836, clinicaltrials.gov) will best answer this question.

Prevalence and Impact of Underlying Diagnosis and Comorbidities on Chiari 1 Malformation.

BACKGROUND: Chiari malformation type 1 affects approximately one in 1,000 people symptomatically, although one in 100 meet radiological criteria, making it a common neurological disorder. The diagnosis of underlying conditions has become more sophisticated, and new radiological markers of disease have been described. We sought to determine the prevalence and impact of additional comorbidities and underlying diagnoses in patients with Chiari malformation type 1 on symptomatology and surgical treatment. METHODS: A retrospective review of 612 pediatric patients with a Chiari malformation type 1 diagnosis and imaging data evaluated between 2008 and 2018 was performed. Because of extensive clinical heterogeneity, patients were separated into four categories based on their primary comorbidities (nonsyndromic, central nervous system, skeletal, and multiple congenital anomalies) to identify associations with age of onset, radiographic measurements, syringomyelia, and surgical treatment. RESULTS: The largest group had nonsyndromic Chiari malformation type 1 (70%) and the latest age at diagnosis of any group. In the syndromic group, 6% were diagnosed with a known genetic abnormality, with overgrowth syndromes being the most common. Patients with multiple congenital anomalies had the earliest Chiari malformation type 1 onset, the most severe tonsillar ectopia and obex position, and were overrepresented among surgical cases. Although there were no statistically significant differences between groups and rates of syrinx, we observed differences in individual diagnoses. CONCLUSION: The underlying diagnoses and presence of comorbidities in patients with Chiari malformation type 1 impacts rates of syringomyelia and surgery. Although most Chiari malformation type 1 cases are nonsyndromic, clinical evaluation of growth parameters, scoliosis, and joint hypermobility should be routine for all patients as they are useful to determine syringomyelia risk and may impact treatment.