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1.
BMC Sports Sci Med Rehabil ; 13(1): 148, 2021 Nov 24.
Article in English | MEDLINE | ID: mdl-34819153

ABSTRACT

BACKGROUND: Patients with lower extremity problems (LEP) commonly experience functional loss, pain, decreased range of motion, inadequacy in daily living activities, and structural change in radiographic evaluations. However, the traditional patient-reported outcome measurement which focused on symptoms, had a limited scope of applicability. This study aimed to validate the psychometric properties of the Korean version of PROMIS-29 Profile v2.1 (K-PROMIS-29 V2.1), a multi-dimensional measure for assessing generic profile health-related quality-of-life (HRQoL) in a sample of patients with lower extremity problems (LEP). METHODS: Participants were recruited from the orthopedic outpatient clinics at the Samsung Medical Center in Seoul, South Korea from September to October 2018. Participants completed a survey questionnaire that included the K-PROMIS-29 V2.1 and the SF-36v2. Principal component analysis (PCA) and confirmatory factor analysis (CFA) and Pearson's correlations were used to evaluate the reliability and validity of the K-PROMIS-29 V2.1. RESULTS: A total of 299 participants were enrolled in the study and 258 (86%) completed the study questionnaire. The mean age (SD) of the participants was 56.6 (14.5) and 32.3%, 29.8, and 25.2% of the study participants visited outpatient clinics for foot, knee, and hip problems respectively. The Cronbach's alpha coefficients of 7 sub-domains in K-PROMIS-29 V2.1 ranged from 0.80 to 0.95, indicating satisfactory internal consistency. In CFA, the goodness-of-fit indices were high (CFI = 0.937 and SRMR = 0.061). High to moderate correlations were found between comparable subscales of the K-PROMIS-29 V2.1 and subscales of the SF-36v2 (r = 0.55-0.70). CONCLUSIONS: The K-PROMIS-29 V2.1 is a reliable and valid measure for assessing a broad range of health-related quality-of-life domains in patients with LEP. It would reflect the real-life symptoms experienced by patients with LEP.

2.
J Korean Med Sci ; 36(33): e212, 2021 Aug 23.
Article in English | MEDLINE | ID: mdl-34427060

ABSTRACT

BACKGROUND: The purpose of the study was to translate and linguistically validate a Korean language version of the PROMIS (K-PROMIS) for the six profile adult domains: Fatigue, Pain Intensity, Pain Interference, Physical Function, Sleep Disturbance, and Ability to Participate in Social Roles and Activities. METHODS: A total of 268 items were translated into Korean according to the Functional Assessment of Chronic Illness Therapy multilingual translation methodology. Participants first completed approximately 27 to 35 items and were then interviewed to evaluate the conceptual equivalence of the translation to the original English language source. The K-PROMIS items that met the a priori threshold of ≥ 20% of respondents with comprehension difficulties in the cognitive interview. RESULTS: 54 of the 268 items were identified as difficult items to comprehend for at least 20% of respondents in Round 1. The most frequently identified K-PROMIS domain on difficult items to comprehend was the Physical function (24.5%). Most items with linguistic difficulties were Fatigue and Physical function. Cultural difficulties were only included the Physical function and Ability to Participate in Social Roles and Activities domains. 25 of 54 items were slightly revised, and then these revised items were tested with additional six participants in Round 2, and most participants had no problems to understand modified items. CONCLUSION: The six profile adult domains of K-PROMIS have been linguistically validated. Further psychometric validation of the K-PROMIS items will provide additional information of meaningful outcomes for chronic disease and clinical setting.


Subject(s)
Interviews as Topic/standards , Language , Linguistics , Quality of Life , Translating , Adolescent , Adult , Aged , Chronic Disease , Female , Humans , Information Systems , Male , Middle Aged , Outcome Assessment, Health Care , Patient Reported Outcome Measures , Psychometrics , Reproducibility of Results , Republic of Korea , Sleep Wake Disorders , Surveys and Questionnaires , Treatment Outcome
3.
J Clin Med ; 9(3)2020 Feb 28.
Article in English | MEDLINE | ID: mdl-32121242

ABSTRACT

Intravenous (IV) dexmedetomidine is reported to prolong analgesia following peripheral nerve blocks. Popliteal sciatic nerve block provides effective postoperative analgesia, but some patients still experience severe pain during the early postoperative period. We aimed to evaluate the postoperative analgesic effects of IV dexmedetomidine versus propofol in patients undergoing foot surgeries under popliteal sciatic nerve block. Forty patients were enrolled and randomly assigned to receive either IV propofol (n = 20) or IV dexmedetomidine (n = 20) for intraoperative sedation. All the patients received continuous popliteal sciatic nerve block. The corresponding drug infusion rate was adjusted to achieve a modified observer's assessment of alertness/sedation score of 3 or 4. The primary outcome was postoperative cumulative opioid consumption during the first 24 h after surgery. Thirty-nine patients were analyzed. The median (interquartile ranges) postoperative cumulative opioid consumption during the first 24 h after surgery was significantly lower in the dexmedetomidine group (15 (7.5-16.9) mg) than in the propofol group (17.5 (15-25) mg) (p = 0.019). The time to first rescue analgesic request was significantly greater in the dexmedetomidine group than in the propofol group (11.8 ± 2.2 h vs. 10.0 ± 2.7 h, p = 0.030) without the prolonged motor blockade (p = 0.321). Intraoperative sedation with dexmedetomidine reduced postoperative opioid consumption and prolonged analgesic duration after a popliteal sciatic nerve block.

4.
Int Wound J ; 17(1): 91-99, 2020 Feb.
Article in English | MEDLINE | ID: mdl-31773882

ABSTRACT

This study aimed to assess the efficacy of a new povidone-iodine (PVP-I) foam dressing (Betafoam) vs foam dressing (Medifoam) for the management of diabetic foot ulcers. This study was conducted between March 2016 and September 2017 at 10 sites in Korea. A total of 71 patients (aged ≥19 years) with type 1/2 diabetes and early-phase diabetic foot ulcers (Wagener classification grade 1/2) were randomised to treatment with PVP-I foam dressing or foam dressing for 8 weeks. Wound healing, wound infection, patient satisfaction, and adverse events (AEs) were assessed. The PVP-I foam and foam dressing groups were comparable in the proportion of patients with complete wound healing within 8 weeks (44.4% vs 42.3%, P = .9191), mean (±SD) number of days to complete healing (31.00 ± 15.07 vs 33.27 ± 12.60 days; P = .6541), and infection rates (11.1% vs 11.4%; P = 1.0000). Median satisfaction score (scored from 0 to 10) at the final visit was also comparable between groups (10 vs 9, P = .2889). There was no significant difference in AE incidence (27.8% vs 17.1%, P = .2836), and none of the reported AEs had a causal relationship with the dressings. The results of this study suggest that PVP-I foam dressing has wound-healing efficacy comparable with foam dressing, with no notable safety concerns. This study was funded by Mundipharma Korea Ltd and registered at ClinicalTrials.gov (identifier NCT02732886).


Subject(s)
Bandages, Hydrocolloid , Diabetes Complications/drug therapy , Diabetic Foot/drug therapy , Povidone-Iodine/therapeutic use , Wound Healing/drug effects , Wound Healing/physiology , Wound Infection/drug therapy , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Republic of Korea , Young Adult
5.
Knee Surg Sports Traumatol Arthrosc ; 28(1): 326-333, 2020 Jan.
Article in English | MEDLINE | ID: mdl-29704114

ABSTRACT

PURPOSE: (1) To describe ankle strength and postural stability in patients with chronic lateral ankle instability and (2) to analyse the correlation between deficits in ankle strength and postural stability. METHODS: Results of preoperative isokinetic and balance tests in 203 patients whose contralateral ankle was normal were retrospectively reviewed. Isokinetic peak torque values of eversion and inversion at 2 angular velocities (30°/s and 120°/s) were measured in the injured and normal ankles. In the balance test, the percent differences of 3 actual scores (overall, anterior-posterior, and medial-lateral) between the injured and normal ankles were calculated. Additional statistical analyses were performed to evaluate weakness of ankle strength, postural stability deficits, and their correlation. RESULTS: Significant differences in 4 peak torque values and 4 relative peak torque values (peak torque/body weight) were found between the injured and normal ankles. All 8 values were significantly lower in the injured ankles. Weakness was severe during inversion and at 30°/s. In the balance test, 49 subjects (24.1%) had significant deficits in postural stability and 109 (53.7%) had favourable results. No strong association was found between weakness of ankle strength and deficits in postural stability. CONCLUSIONS: Strength measurement alone is insufficient to evaluate preoperative functional deficits, and other functional tests are required to measure postural stability. The results of this study provide further evidence for a rehabilitation programme consisting of proprioceptive training as well as strengthening. The proprioceptive training must be an integral part of the rehabilitation programme in addition to strengthening exercise. LEVEL OF EVIDENCE: Case series, Level IV.


Subject(s)
Ankle Joint/physiopathology , Joint Instability/physiopathology , Postural Balance , Adult , Ankle/physiopathology , Ankle Injuries/physiopathology , Female , Humans , Male , Muscle Strength , Proprioception , Retrospective Studies , Torque , Young Adult
6.
Knee Surg Sports Traumatol Arthrosc ; 28(1): 155-162, 2020 Jan.
Article in English | MEDLINE | ID: mdl-30083968

ABSTRACT

PURPOSE: To compare the surgical outcomes of the two different ankle stabilization techniques. METHODS: This randomized controlled trial aimed to compare the outcomes of the modified Broström procedure with [calcaneofibular ligament (CFL) group] or without CFL repair [anterior talofibular ligament (ATFL) only group]. Of the 50 patients randomly assigned to two groups, 43 were followed up prospectively for ≥ 2 years (CFL group: 22 patients, 36.6 ± 13.1 months; ATFL Only group: 21 patients, 35.3 ± 11.9 months). Functional outcomes were assessed using the Karlsson-Peterson and Tegner activity level scoring systems. Anterior talar translation (ATT), talar tilt angle (TTA), and degrees of displacement of the calcaneus against the talus on stress radiographs were measured. All parameters were compared between the two groups. Multiple regression analysis setting the postoperative Karlsson-Peterson score as the dependent variable was performed to determine the significant variable. RESULTS: There were no significant differences between the two groups in functional (Karlsson-Peterson and Tegner activity level) scores at the last follow-up and their changes. There were no significant differences between the two groups in the ATT, TTA, their differences compared with the contralateral ankles, and degrees of displacement of the calcaneus against the talus at the last follow-up. Osteochondral lesion of the talus rather than CFL repair was the significant variable related to functional outcome. CONCLUSION: The modified Broström procedure with additional CFL repair did not result in a significant advantage in any measured outcome at 3 years. LEVEL OF EVIDENCE: Randomized controlled trial, Level I.


Subject(s)
Ankle Joint/surgery , Joint Instability/surgery , Lateral Ligament, Ankle/surgery , Orthopedic Procedures/methods , Adult , Ankle Injuries/diagnostic imaging , Ankle Injuries/physiopathology , Ankle Injuries/surgery , Ankle Joint/diagnostic imaging , Arthroscopy/methods , Calcaneus/diagnostic imaging , Calcaneus/surgery , Female , Humans , Joint Instability/diagnostic imaging , Joint Instability/physiopathology , Lateral Ligament, Ankle/diagnostic imaging , Lateral Ligament, Ankle/injuries , Lysholm Knee Score , Male , Radiography , Sprains and Strains/diagnostic imaging , Sprains and Strains/physiopathology , Sprains and Strains/surgery , Talus/diagnostic imaging , Talus/physiopathology
7.
J Pain Res ; 12: 1479-1487, 2019.
Article in English | MEDLINE | ID: mdl-31190958

ABSTRACT

Background: Dexmedetomidine is widely used for conscious sedation in patients undergoing lower-extremity surgery under regional anesthesia. We evaluated the postoperative analgesic effects of intravenous dexmedetomidine given during ankle surgery under spinal anesthesia. Methods: Forty-three participants underwent repair of lateral angle ligaments under spinal anesthesia. For sedation during surgery, participants were allocated to a dexmedetomidine group (n=22) that received a loading dose of 1 mcg.kg-1 over 10 min, followed by a maintenance dose of 0.2-0.7 µg.kg-1.h-1; and a propofol group (n=21) that received an effective site concentration of 0.5-2.0 µg.mL-1 via target-controlled infusion. The primary outcome was the postoperative, cumulative, intravenous (IV) morphine equivalent dose delivered via IV patient-controlled anesthesia (PCA) and rescue analgesic consumption in the first 24 h after surgery. We recorded sensory and motor block durations. Results: The postoperative IV morphine equivalent dose was 14.5 mg (0.75-31.75 mg) in the dexmedetomidine group compared to 48.0 mg (31.5-92.5 mg) in the propofol group (median difference, 33.2 mg; 95% confidence interval, 21.0-54.8 mg; P<0.001). The time to the first complaint of surgical site pain was significantly prolonged in the dexmedetomidine group (P<0.001), but the duration of motor block was comparable between the two groups (P=0.55). Conclusion: IV dexmedetomidine given as a sedative during ankle surgery under spinal anesthesia reduced postoperative opioid consumption in the first 24 h. Thus, intraoperative dexmedetomidine is a versatile sedative adjunct. Level of evidence: Level I, prospective randomized trial.

8.
Eur Radiol ; 28(10): 4151-4162, 2018 Oct.
Article in English | MEDLINE | ID: mdl-29666996

ABSTRACT

PURPOSE: To evaluate the difference between T2 relaxation values of the subtalar cartilage in lateral ankle instability patients and healthy volunteers. MATERIALS AND METHODS: This institutional review board-approved study included 27 preoperative magnetic resonance imaging (MRI) examinations of 26 patients who underwent Broström operations. Data of previously enrolled healthy volunteers (12 volunteers, 13 MRIs) were used as controls. Two radiologists independently measured T2 values in eight posterior subtalar joint cartilage compartments: central calcaneus anterior (CCA) and posterior (CCP), central talus anterior (CTA) and posterior (CTP), lateral calcaneus anterior (LCA) and posterior (LCP), and lateral talus anterior (LTA) and posterior (LTP). Patient and control values were compared using linear regression analysis. Inter- and intraobserver agreement was calculated. RESULTS: Mean T2 values were significantly higher in the patient group in all measurements of subtalar joint cartilage compartments (p < 0.05) except that in LTP (p = 0.085) measured by reviewer 1. Both inter- and intraobserver agreements were excellent. CONCLUSIONS: The T2 relaxation values of the subtalar cartilage were significantly higher in lateral ankle instability patients compared with those of controls. KEY POINTS: • Subtalar cartilage T2 values are increased in patients with lateral ankle instability. • This trend was demonstrated regardless of the presence of talar dome cartilage lesions. • Inter-and intraobserver agreements were excellent (intraclass coefficient range, 0.765-0.951) in subtalar cartilage T2 mapping.


Subject(s)
Ankle Joint/diagnostic imaging , Cartilage, Articular/diagnostic imaging , Joint Instability/diagnostic imaging , Magnetic Resonance Imaging/methods , Preoperative Care/methods , Adult , Ankle Joint/physiopathology , Ankle Joint/surgery , Cartilage, Articular/physiopathology , Cartilage, Articular/surgery , Female , Humans , Joint Instability/physiopathology , Joint Instability/surgery , Male , Middle Aged , Retrospective Studies , Young Adult
9.
J Foot Ankle Surg ; 55(1): 90-3, 2016.
Article in English | MEDLINE | ID: mdl-26342665

ABSTRACT

Posterior antiglide plating is widely used to treat lateral malleolar fractures caused by supination-external rotation injuries. Despite its widespread use, this technique can be associated with postoperative peroneal tendinopathy. The purpose of the present observational review was to report the incidence of peroneal tendinopathy after the use of posterior antiglide plating to treat lateral malleolar fractures caused by a supination-external rotation injury. A total of 70 patients were followed up for a minimum of 12 (mean 55, range 12 to 109) months. Bony union was obtained in all cases after a mean of 57 (range 37 to 81) days. The median number of screw holes in the plate was 4.9 (range 4 to 7), and the median number of screws used to fixate the fibula was 6.58 (range 5 to 10). The mean American Orthopaedic Foot and Ankle Society hindfoot-ankle score at the final follow-up examination was 90.8 (range 55 to 100). Clinically, 3 (4.29%) of the 70 patients had lateral or posterolateral ankle pain indicative of peroneal tendinopathy after the index surgery, without any objective evidence. Of the 70 patients, 41 (58.57%) underwent surgical removal of the fibular hardware, 2 (4.87%) because of lateral ankle discomfort. At removal, inspection of the peroneal tendon sheath and/or tendons showed no gross evidence of tendinopathy in any of the patients. We concluded that the incidence of clinically evident peroneal tendon symptoms associated with posterior antiglide plating is low (4.3%), and direct operative inspection revealed no gross evidence of tendinopathy.


Subject(s)
Ankle Fractures/surgery , Ankle Joint/surgery , Bone Plates , Bone Screws , Fracture Fixation, Internal/adverse effects , Range of Motion, Articular/physiology , Tendinopathy/epidemiology , Adolescent , Adult , Aged , Aged, 80 and over , Ankle Fractures/diagnostic imaging , Ankle Fractures/physiopathology , Ankle Joint/diagnostic imaging , Ankle Joint/physiopathology , Female , Fracture Fixation, Internal/instrumentation , Humans , Incidence , Male , Middle Aged , Postoperative Complications , Radiography , Republic of Korea/epidemiology , Tendinopathy/etiology , Young Adult
10.
AJR Am J Roentgenol ; 206(1): 136-43, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26700345

ABSTRACT

OBJECTIVE: The purpose of this study was to evaluate the difference between the T2 relaxation values of the talar trochlear cartilage in patients with lateral instability of the ankle joint and the values in healthy volunteers. MATERIALS AND METHODS: A retrospective assessment was conducted of images from 13 MRI examinations of the ankles of 12 patients who underwent lateral ankle ligament repair with an arthroscopically proven normal talar trochlear cartilage. Thirteen ankle MRI examinations of 12 healthy age- and sex-matched volunteers were prospectively performed. Two radiologists independently measured the T2 relaxation values of the talar trochlear cartilage in two layers (superficial and deep) in the following six compartments: medial anterior (M1), medial middle (M2), medial posterior (M3), lateral anterior (L1), lateral middle (L2), and lateral posterior (L3). The T2 relaxation values of patients were compared with those of healthy volunteers. RESULTS: Both readers found that the mean T2 relaxation values of all six compartments of the superficial layer were significantly higher in patients than in control subjects. For reader 1, the M1 findings were 46.2 for patients and 39.6 for healthy volunteers; M2, 50.4 and 41.1; M3, 52.1 and 46.2; L1, 43.1 and 37.9; L2, 47.8 and 41.8; and L3, 53.8 and 49.8. For reader 2, the M1 findings were 45.0 and 40.2; M2, 48.8 and 41.1; M3, 53.2 and 45.6; L1, 42.8 and 38.5; L2, 48.0 and 42.1; and L3, 55.0 and 49.0 (p < 0.05). For the deep layer, the mean T2 relaxation values of M2 (patients, 32.6; volunteers, 27.8 [p = 0.004]) and M3 (patients, 38.3; volunteers, 35.0 [p = 0.046]) for reader 1 and M2 (patients, 31.6; volunteers, 28.7 [p = 0.041]) for reader 2 were significantly higher in patients than in control subjects. Intraobserver and interobserver variability were excellent, except for interobserver variability for M1 deep (0.79) and L1 deep (0.75). CONCLUSION: The T2 relaxation values of arthroscopically proven normal talar trochlear cartilage of patients with lateral instability were higher than those of healthy volunteers, especially in the superficial layer and the M2 deep layer.


Subject(s)
Ankle Joint/physiopathology , Cartilage, Articular/physiology , Joint Instability/physiopathology , Ligaments, Articular/injuries , Magnetic Resonance Imaging/methods , Adult , Ankle Joint/physiology , Ankle Joint/surgery , Arthroscopy , Case-Control Studies , Female , Healthy Volunteers , Humans , Image Interpretation, Computer-Assisted , Joint Instability/surgery , Ligaments, Articular/surgery , Male , Middle Aged , Prospective Studies , Retrospective Studies
11.
Foot Ankle Int ; 36(12): 1463-8, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26208509

ABSTRACT

BACKGROUND: The effect of lateral soft tissue release (LSTR) regarding the position of the sesamoid is not clear. The purpose of this study was to evaluate the effect of LSTR by comparing the radiologic and clinical outcomes of operative treatment for hallux valgus with or without LSTR. METHODS: This study included a consecutive series of chevron osteotomy of 119 feet of 90 patients with symptomatic hallux valgus with incongruent first metatarsophalangeal (MTP) joints. Fifty-one feet underwent an operation with the LSTR procedure (LSTR group), and the remaining 68 feet underwent treatment without LSTR (control non-LSTR group). We evaluated the differences regarding the distance of the fibular sesamoid from the second metatarsal bone between these 2 groups to evaluate the effect of LSTR on sesamoid position. The tibial sesamoid position was also investigated to evaluate the degree of reduction of the metatarsal head to the sesamoids. The hallux valgus angle, intermetatarsal angle, and distal metatarsal articulation angle were analyzed as radiologic outcomes. Additionally, the preoperative and final follow-up American Orthopaedic Foot & Ankle Society hallux MTP-IP scores and complications were evaluated as clinical assessments. The mean follow-up period was 43.3 weeks (range = 12-144). RESULTS: There were no significant differences in the amount and direction of movement of the fibular sesamoid between the LSTR group and non-LSTR group (1.9 mm and 1.6 mm, respectively) (P = .23). The direction was close to the second metatarsal bone in both groups. The complication rate in the LSTR group was 7.8% (n = 4) and 2.9% (n = 2) in the non-LSTR group (P = .40). CONCLUSIONS: Although there were significantly improved clinical and radiologic outcomes after surgery, the LSTR procedure did not result in medial shift or reduction of the sesamoid position. LEVEL OF EVIDENCE: Level III, retrospective case control study.


Subject(s)
Hallux Valgus/surgery , Orthopedic Procedures/methods , Sesamoid Bones/diagnostic imaging , Adult , Aged , Aged, 80 and over , Female , Humans , Joint Capsule/surgery , Ligaments, Articular/surgery , Male , Metatarsal Bones/diagnostic imaging , Middle Aged , Osteotomy/methods , Radiography , Retrospective Studies , Tendons/surgery , Young Adult
12.
J Foot Ankle Surg ; 54(2): 160-3, 2015.
Article in English | MEDLINE | ID: mdl-25618808

ABSTRACT

Although a benign disorder, pigmented villonodular synovitis (PVNS) has a high rate of recurrence. Because of the high incidence of recurrence and concern about destruction of the affected joint, several adjuvant therapies have been promoted without a clear standard treatment strategy. We reviewed cases of PVNS affecting the ankle and hindfoot joints (ankle and/or subtalar joints) treated with surgical resection without adjuvant therapy in an effort to identify the incidence of PVNS recurrence after excision without adjuvant therapy. Of the 10 cases with a mean follow-up duration of 33.2 ± 19.8 months, 4 (40%) developed a recurrence, with a mean interval of 6 (range 3 to 14) months. At the final follow-up visit, the mean American Orthopaedic Foot and Ankle Society ankle-hindfoot score was 86.6 ± 12. The clinical outcomes of PVNS affecting the ankle and hindfoot joints are associated with a relatively high incidence of recurrence, and additional clinical investigation comparing the incidence of recurrence in patients undergoing excision versus excision with adjuvant therapy is needed for us to better understand this condition and provide more informed recommendations to our patients.


Subject(s)
Ankle Joint , Subtalar Joint , Synovitis, Pigmented Villonodular/epidemiology , Synovitis, Pigmented Villonodular/surgery , Adolescent , Adult , Combined Modality Therapy , Disease-Free Survival , Female , Humans , Incidence , Male , Middle Aged , Recurrence , Retrospective Studies , Synovitis, Pigmented Villonodular/diagnosis , Treatment Outcome , Young Adult
13.
Am J Hum Genet ; 96(2): 266-74, 2015 Feb 05.
Article in English | MEDLINE | ID: mdl-25620203

ABSTRACT

Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, psoriasis, and other conditions. Despite an apparent autosomal-dominant pattern of inheritance, the genetic background of SMS and information about its phenotypic heterogeneity remain unknown. Recently, we found a family affected by glaucoma, aortic calcification, and skeletal abnormalities. Unlike subjects with classic SMS, affected individuals showed normal dentition, suggesting atypical SMS. To identify genetic causes of the disease, we performed exome sequencing in this family and identified a variant (c.1118A>C [p.Glu373Ala]) of DDX58, whose protein product is also known as RIG-I. Further analysis of DDX58 in 100 individuals with congenital glaucoma identified another variant (c.803G>T [p.Cys268Phe]) in a family who harbored neither dental anomalies nor aortic calcification but who suffered from glaucoma and skeletal abnormalities. Cys268 and Glu373 residues of DDX58 belong to ATP-binding motifs I and II, respectively, and these residues are predicted to be located closer to the ADP and RNA molecules than other nonpathogenic missense variants by protein structure analysis. Functional assays revealed that DDX58 alterations confer constitutive activation and thus lead to increased interferon (IFN) activity and IFN-stimulated gene expression. In addition, when we transduced primary human trabecular meshwork cells with c.803G>T (p.Cys268Phe) and c.1118A>C (p.Glu373Ala) mutants, cytopathic effects and a significant decrease in cell number were observed. Taken together, our results demonstrate that DDX58 mutations cause atypical SMS manifesting with variable expression of glaucoma, aortic calcification, and skeletal abnormalities without dental anomalies.


Subject(s)
Aortic Diseases/genetics , DEAD-box RNA Helicases/genetics , Dental Enamel Hypoplasia/genetics , Glaucoma/genetics , Metacarpus/abnormalities , Models, Molecular , Muscular Diseases/genetics , Odontodysplasia/genetics , Osteoporosis/genetics , Vascular Calcification/genetics , Adult , Aortic Diseases/pathology , Base Sequence , Cells, Cultured , Child, Preschool , DEAD Box Protein 58 , DEAD-box RNA Helicases/chemistry , Dental Enamel Hypoplasia/pathology , Exome/genetics , Female , Genes, Dominant/genetics , Humans , Male , Metacarpus/pathology , Molecular Sequence Data , Muscular Diseases/pathology , Musculoskeletal Abnormalities/diagnostic imaging , Musculoskeletal Abnormalities/genetics , Mutation, Missense/genetics , Odontodysplasia/diagnostic imaging , Odontodysplasia/pathology , Osteoporosis/pathology , Pedigree , Polymorphism, Single Nucleotide/genetics , Radiography , Receptors, Immunologic , Sequence Analysis, DNA , Vascular Calcification/pathology
14.
Skeletal Radiol ; 43(5): 641-8, 2014 May.
Article in English | MEDLINE | ID: mdl-24531303

ABSTRACT

OBJECTIVES: To investigate the relationship between volume-based PET parameters and prognosis in patients with soft tissue sarcoma (STS). METHODS: We retrospectively reviewed 55 patients with pathologically proven STS who underwent pretreatment with (18) F-Fluorodeoxyglucose ((18)F-FDG) PET/CT. The maximum standardized uptake value (SUVmax), average SUV (SUVavg), metabolic tumor volume (MTV), and total lesion glycolysis (TLG) of primary tumors were measured using a threshold SUV as liver activity for determining the boundary of tumors. Univariate and multivariate survival analyses for overall survival were performed according to the metabolic parameters and other clinical variables. RESULTS: Cancer-related death occurred in 19 of 55 patients (35 %) during the follow-up period (29 ± 23 months). On univariate analysis, AJCC stage (stage IV vs. I-III, hazard ratio (HR) = 2.837, p = 0.028), necrosis (G2 vs. G0-G1, HR = 3.890, p = 0.004), SUVmax (1 unit - increase, HR = 1.146, p = 0.008), SUVavg (1 unit - increase, HR = 1.469, p = 0.032) and treatment modality (non-surgical therapy vs. surgery, HR = 4.467, p = 0.002) were significant predictors for overall survival. On multivariate analyses, SUVmax (HR = 1.274, p = 0.015), treatment modality (HR = 3.353, p = 0.019) and necrosis (HR = 5.985, p = 0.006) were identified as significant independent prognostic factors associated with decreased overall survival. CONCLUSIONS: The SUVmax of the primary tumor is a significant independent metabolic prognostic factor for overall survival in patients with STS. Volume-based PET parameters may not add prognostic information outside of the SUVmax.


Subject(s)
Fluorodeoxyglucose F18/pharmacokinetics , Positron-Emission Tomography/statistics & numerical data , Sarcoma/diagnosis , Sarcoma/mortality , Tomography, X-Ray Computed/statistics & numerical data , Adult , Biomarkers, Tumor/metabolism , Female , Humans , Incidence , Male , Middle Aged , Prevalence , Prognosis , Radiopharmaceuticals/pharmacokinetics , Reproducibility of Results , Republic of Korea/epidemiology , Sarcoma/metabolism , Sensitivity and Specificity , Survival Rate , Young Adult
15.
Foot Ankle Int ; 35(3): 225-31, 2014 Mar.
Article in English | MEDLINE | ID: mdl-24346769

ABSTRACT

BACKGROUND: Many authors have reported that an ankle varus deformity more than 10 to 15 degrees may be the cause of failures in total ankle arthroplasty. Our study aim was to analyze short-term outcomes of total ankle arthroplasty with additional procedures accompanied by more than 20 degrees of varus deformity. METHODS: Among the patients who received total ankle arthroplasty for end-stage osteoarthritis between June 2006 and May 2012, 103 cases that were followed for more than 6 months were reviewed. Depending on the degree of varus deformity, 24 cases with more than 20 degrees of coronal deformity were allocated into group A, and 79 cases with less than 20 degrees were allocated into group B. Soft tissue balancing, bony realignment osteotomy, and subtalar arthrodesis were also performed intraoperatively. The American Orthopaedic Foot and Ankle Society (AOFAS) ankle-hindfoot scale, visual analogue scale (VAS) for pain, and ankle range of motion (ROM) were analyzed preoperatively and postoperatively. Subjective satisfaction of the patients (excellent, good, fair, or poor) and complications (major or minor) were identified. RESULTS: The average AOFAS and VAS scores significantly improved in both groups (P < .001), but there was no significant difference between the groups. Patients' subjective satisfaction levels also improved in both groups. CONCLUSION: Short-term follow-up of total ankle arthroplasty, according to the degree of varus deformity, revealed clinically satisfactory progress in both groups without significant differences. There were no significant differences between the 2 groups in postoperative complications and early implant failures. LEVEL OF EVIDENCE: Level III, comparative series.


Subject(s)
Ankle Joint , Arthritis/surgery , Arthroplasty, Replacement , Joint Deformities, Acquired/surgery , Adult , Aged , Aged, 80 and over , Ankle Joint/surgery , Arthritis/complications , Female , Humans , Joint Deformities, Acquired/etiology , Joint Deformities, Acquired/physiopathology , Male , Middle Aged , Patient Satisfaction , Prosthesis Failure , Range of Motion, Articular , Retrospective Studies , Treatment Outcome
16.
Aesthetic Plast Surg ; 37(4): 786-91, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23661194

ABSTRACT

INTRODUCTION: Radiofrequency-induced calf muscle volume reduction is a commonly used method for cosmetic shaping of the lower leg contour. Functional disabilities associated with the use of the radiofrequency (RF) technique, with this procedure targeting the normal gastrocnemius muscle, still have not been reported. However, the authors have experienced several severe ankle equinus cases after RF-induced calf muscle volume reduction. MATERIAL AND METHOD: This study retrospectively reviewed 19 calves of 12 patients who showed more than 20° of fixed equinus even though they underwent physical therapy for more than 6 months. All were women with a mean age of 32 years (range, 23-41 years). Of the 12 patients, 7 were bilateral. All the patients received surgical Achilles lengthening for deformity correction. To evaluate the clinical outcome, serial ankle dorsiflexion was measured, and the American Orthopedic Foot and Ankle Society (AOFAS) score was evaluated at the latest follow-up visit. The presence of soleus muscle involvement and an ongoing lesion that might affect the postoperative results of preoperative magnetic resonance imaging (MRI) were investigated. Statistical analysis was conducted to analyze preoperative factors strongly associated with patient clinical outcomes. RESULTS: The mean follow-up period after surgery was 18.6 months (range, 12-28 months). At the latest follow-up visit, the mean ankle dorsiflexion was 9° (range, 0-20°), and the mean AOFAS score was 87.7 (range, 80-98). On preoperative MRI, 13 calves showed soleus muscle involvement. Seven calves had ongoing lesions. Five of the ongoing lesions were muscle edema, and the remaining two lesions were cystic mass lesions resulting from muscle necrosis. Ankle dorsiflexion and AOFAS scores at the latest follow-up evaluation were insufficient in the ongoing lesions group. CONCLUSION: Although RF-induced calf muscle reduction is believed to be a safer method than conventional procedures, careful handling is needed because of the side effects that may occur in some instances. The slow progression of fibrosis could be observed after RF-induced calf reduction. Therefore, long-term follow-up evaluation is needed after the procedure. LEVEL OF EVIDENCE IV: Therapeutic case series.


Subject(s)
Cosmetic Techniques , Equinus Deformity/etiology , Muscle, Skeletal/surgery , Adult , Factor Analysis, Statistical , Female , Humans , Leg , Magnetic Resonance Imaging , Retrospective Studies , Young Adult
17.
Foot Ankle Int ; 34(8): 1128-33, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23471672

ABSTRACT

BACKGROUND: The management of an ossicle or avulsion fragment of the fibular tip in chronic lateral ankle instability is an open question. Some authors maintain the necessity of osteosynthesis for reconstruction of the lateral ligamentous structure if the fragment is large. We hypothesized that the modified Broström procedure with resection of the ossicle would result in good outcomes compared to that of the same procedure for chronic lateral instability patients without ossicle. METHODS: Between December 2004 and December 2010, 102 patients underwent the modified Broström procedure for chronic lateral instability. Of these, 82 patients (86 ankles) were available for this study. Forty ankles had ossicles at the fibular tip (group O), 46 had no ossicle (group N). The average follow-up period was 33 months in group O and 37 months in group N. Irrespective of size, if there were ossicles we resected all fragments and performed the modified Broström procedure. To analyze the surgical outcome, American Orthopaedic Foot and Ankle Society (AOFAS) ankle-hindfoot pain and function scales and Karlsson scores were compared between the 2 groups preoperatively and postoperatively. RESULTS: Preoperative scores in the 2 groups showed no significant difference, except for AOFAS pain score. There was no significant difference in postoperative AOFAS pain and function score between the groups. Postoperative Karlsson score was significantly higher in group O than in group N (P = .001). Group O was divided into 2 subgroups by the largest diameter of the ossicle (< 10 mm and ≥ 10 mm); there was no significant difference in surgical outcomes. CONCLUSIONS: In the treatment of chronic lateral instability of ankle, if there are ossicles on the fibular tip, osteosynthesis of the ossicles may not be necessary, even if the size is considerable. Modified Broström procedure after resection of the ossicle was successful. LEVEL OF EVIDENCE: Level III, retrospective case series.


Subject(s)
Joint Instability/surgery , Lateral Ligament, Ankle/surgery , Adolescent , Adult , Female , Fibula/diagnostic imaging , Fibula/pathology , Fibula/surgery , Humans , Joint Instability/diagnostic imaging , Lateral Ligament, Ankle/diagnostic imaging , Male , Radiography , Retrospective Studies , Tarsal Bones/diagnostic imaging , Tarsal Bones/surgery , Treatment Outcome
18.
J Child Neurol ; 28(12): 1668-72, 2013 Dec.
Article in English | MEDLINE | ID: mdl-23112235

ABSTRACT

Hereditary sensory and autonomic neuropathy type IV is an autosomal recessive disorder characterized by severe mental retardation and self-mutilation-related complications. Recently, we investigated a 16-year-old Korean boy with normal intelligence. He had preserved pain sensation but was suspected of having hereditary sensory and autonomic neuropathy type IV because of the recurrent bone fractures and painless joint destruction in the absence of any predisposing medical conditions. Genetic analysis of the NTRK1 gene revealed compound heterozygous mutations including c.851-33T>A and c.2303C>T (p.Pro768Leu) in the NTRK1 gene. The p.Pro768Leu mutation has been identified in 2 Japanese patients with a mild phenotype. Therefore, although it is rare, hereditary sensory and autonomic neuropathy type IV should be considered in patients with recurrent bone fractures and painless joint destruction who do not have any predisposing conditions even when they do not have typical clinical features such as mental retardation or pain insensitivity.


Subject(s)
Hereditary Sensory and Autonomic Neuropathies/physiopathology , Adolescent , DNA Mutational Analysis , Genetic Testing , Hereditary Sensory and Autonomic Neuropathies/genetics , Humans , Male , Mental Disorders/complications , Mutation/genetics , Nociception/physiology , Receptor, trkA/genetics
19.
Ann Lab Med ; 32(6): 438-41, 2012 Nov.
Article in English | MEDLINE | ID: mdl-23130345

ABSTRACT

We report a case of subcutaneous infection in a 55-yr-old Korean diabetic patient who presented with a cystic mass of the ankle. Black fungal colonies were observed after culturing on blood and Sabouraud dextrose agar. On microscopic observation, septated ellipsoidal or cylindrical conidia accumulating on an annellide were visualized after staining with lactophenol cotton blue. The organism was identified as Exophiala salmonis by sequencing of the ribosomal DNA internal transcribed spacer region. Phaeohyphomycosis is a heterogeneous group of mycotic infections caused by dematiaceous fungi and is commonly associated with immunocompromised patients. The most common clinical manifestations of subcutaneous lesions are abscesses or cystic masses. To the best of our knowledge, this is the first reported case in Korea of subcutaneous phaeohyphomycosis caused by E. salmonis that was confirmed by molecular analysis and identification of morphological characteristics. This case suggests that E. salmonis infections are no longer restricted to fish.


Subject(s)
Exophiala/isolation & purification , Phaeohyphomycosis/diagnosis , DNA, Ribosomal Spacer/genetics , Databases, Genetic , Diabetes Mellitus, Type 2/pathology , Exophiala/genetics , Humans , Male , Middle Aged , Phaeohyphomycosis/microbiology , Sequence Analysis, DNA
20.
BMC Infect Dis ; 12: 161, 2012 Jul 20.
Article in English | MEDLINE | ID: mdl-22817336

ABSTRACT

BACKGROUND: Fusobacterium species are uncommon causes of osteomyelitis. These organisms are normal flora of the oral cavity. Therefore, they mostly cause osteomyelitis of the head and neck. Hematogenous osteomyelitis at distant sites other than the head and neck has rarely been reported in pediatric or immunocompromised patients. Here, we report the first case of osteomyelitis of a long bone combined with a muscle abscess due to Fusobacterium nucleatum in an otherwise healthy adult. CASE PRESENTATION: A 59-year-old Korean man was admitted for pain and swelling of the right lower leg, which had been persistent for two weeks. Magnetic resonance imaging showed osteomyelitis of the right fibula with a surrounding muscle abscess of the right lower leg. Incision and drainage was performed, and repetitive tissue cultures grew F. nucleatum. In this patient, it was presumed that recurrent periodontitis caused hematogenous seeding of F. nucleatum to a distant site leading to osteomyelitis with a muscle abscess. The patient was successfully treated with intravenous ampicillin-sulbactam for three weeks and oral amoxicillin-clavulanate for eight weeks. He also underwent repeated surgical drainage. He has no evidence of recurrence after seven months of follow-up. CONCLUSIONS: Clinicians should be aware that F. nucleatum could be the etiologic agent of hematogenous osteomyelitis of a long bone in an immunocompetent patient.


Subject(s)
Actinomycosis/diagnosis , Actinomycosis/pathology , Fusobacterium Infections/diagnosis , Fusobacterium Infections/pathology , Osteomyelitis/diagnosis , Osteomyelitis/pathology , Abscess/diagnosis , Abscess/pathology , Abscess/therapy , Actinomyces/isolation & purification , Actinomycosis/therapy , Adult , Anti-Bacterial Agents/administration & dosage , Coinfection/diagnosis , Coinfection/pathology , Coinfection/therapy , Drainage , Fibula/pathology , Fusobacterium Infections/therapy , Fusobacterium nucleatum/isolation & purification , Humans , Leg/diagnostic imaging , Magnetic Resonance Imaging , Male , Middle Aged , Myositis/diagnosis , Myositis/pathology , Myositis/therapy , Osteomyelitis/complications , Osteomyelitis/therapy , Radiography , Treatment Outcome
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