Osteochondrodysplasia is a heterogeneous group of disorders appearing short limbed dwarfism. Because many of these entities are lethal and hereditary, an accurate diagnosis is mandatory. The purpose of this study is to define the clinicopathologic features and radiologic findings of osteochondrodysplasia. We reviewed 29 autopsy cases of congenital short limbed dwarfism, consisting of thanatophoric dysplasia (TD) (12 cases), osteogenesis imperfecta (OI) (12 cases), asphyxiating thoracic dysplasia (ATD) (3 cases), short-rib-polydactyly syndrome (SRPS) (1 case) and hypochondrogenesis (1 case). The gestational age ranged from 16 to 41 weeks. Of 6 fetuses that were born alive, 3 were ATD, 2 were TD and 1 was hypochondrogenesis. TD was frequently complicated by hydramnios. Of 8 cases studied chromosomally, only 1 showed chromosomal abnormality -46XY, inv 9. Intrauterine growth retardation was frequently associated with OI. Pulmonary hypoplasia was present in 23 cases (79%), including all cases of ATD, SRPS and hypochondrogenesis, 11 in TD and 7 in OI. Other associated anomalies were present in 17 cases (59%).
Autopsy* ; Chromosome Aberrations ; Diagnosis ; Dwarfism ; Extremities ; Fetal Growth Retardation ; Fetus ; Gestational Age ; Osteochondrodysplasias* ; Osteogenesis Imperfecta ; Polyhydramnios ; Thanatophoric Dysplasia

OBJECTIVE: The purpose of this study is to evaluate the associations between 30-day mortality and various radiological and clinical factors in patients with traumatic acute subdural hematoma (SDH). During the 11-year study period, young patients who underwent surgery for SDH were followed for 30 days. Patients who died due to other medical comorbidities or other organ problems were not included in the study population. METHODS: From January 1, 2004 to December 31, 2014, 318 consecutive surgically-treated traumatic acute SDH patients were registered for the study. The Kaplan–Meier method was used to analyze 30-day survival rates. We also estimated the hazard ratios of various variables in order to identify the independent predictors of 30-day mortality. RESULTS: We observed a negative correlation between 30-day mortality and Glasgow coma scale score (per 1-point score increase) (hazard ratio [HR], 0.60; 95% confidence interval [CI], 0.52–0.70; p<0.001). In addition, use of antithrombotics (HR, 2.34; 95% CI, 1.27–4.33; p=0.008), history of diabetes mellitus (HR, 2.28; 95% CI, 1.20–4.32; p=0.015), and accompanying traumatic subarachnoid hemorrhage (hazard ratio, 2.13; 95% CI, 1.27–3.58; p=0.005) were positively associated with 30-day mortality. CONCLUSION: We found significant associations between short-term mortality after surgery for traumatic acute SDH and lower Glasgow Coma Scale scores, use of antithrombotics, history of diabetes mellitus, and accompanying traumatic subarachnoid hemorrhage at admission. We expect these findings to be helpful for selecting patients for surgical treatment of traumatic acute SDH, and for making accurate prognoses.
Brain Injuries ; Comorbidity ; Diabetes Mellitus ; Glasgow Coma Scale ; Hematoma, Subdural* ; Hematoma, Subdural, Acute ; Humans ; Methods ; Mortality* ; Prognosis ; Subarachnoid Hemorrhage, Traumatic ; Survival Rate

PURPOSE: To investigate the clinical and radiologic outcomes following treatment of intertrochanteric fractures using the Compression Hip Nail(R) (CHN), which has a sliding lag screw. MATERIALS AND METHODS: Twenty-eight cases of intertrochanteric fractures treated with CHN from November 2012 to October 2013 and followed-up for >6 months were included. The patient population consisted of 11 men and 17 women with a mean age of 75.2 years at the time of surgery. For the initial 11 cases, 10 mm sliding lag screws were used; the remaining 17 cases used 20 mm sliding lag screws. Clinical variables including operation time, amount of transfusion, weight-bearing start time, postoperative physical activity, and complications were investigated. The average sliding of lag screws and the average union were investigated radiologically at 3 and 6 months after surgery. RESULTS: In an analysis of 23 cases (exclusion of 3 cases of lag screw cutout and 2 cases of nonunion), 11 (48%) recovered their pre-injury activity level. In an analysis of 25 cases (exclusion of 3 cases of cutout), 17 (68%) and 23 (92%) showed radiological union at postoperative months 3 and 6, respectively. Seven complications were noted. Cutout of the lag screw and the lateral protrusion of barrels were significantly greater in the group with 10 mm sliding lag screws as compared to the group using 20 mm sliding lag screws. CONCLUSION: The use of CHN for the treatment of intertrochanteric fracture yielded poor results. However, results from patients in the 20 mm sliding lag screw group were better than for the 10 mm sliding lag screw group. Therefore, use of the 20 mm sliding lag screw is advisable.
Female ; Femur ; Hip Fractures* ; Hip* ; Humans ; Male ; Motor Activity ; Weight-Bearing

BACKGROUND: Nocturnal muscle cramps are sudden, involuntary, painful muscle contractions that occur in the night and are accompanied by hardening of the muscles. Many symptomatic treatments have been introduced for nocturnal muscle cramps, such as quinine, magnesium, and phenytoin. However, the efficacy and safety of these drugs have not been adequately evaluated. To demonstrate the efficacy and safety of phenytoin treatment for nocturnal muscle cramps, we conducted a retrospective study of 16 patients with nocturnal muscle cramps. METHODS: We reviewed 16 patients (6 men, 10 women) who suffered frequent nocturnal muscle cramps and were treated with phenytoin. The patients' clinical information (age, sex, disease duration, and locations of cramps), treatment dosage, and frequency of cramps were obtained by reviewing their medical records. RESULTS: The patients were aged 63.1+/-14.7 years (mean+/-SD; age range, 30-80 years; median age, 68 years). Twelve and four patients received phenytoin doses of 100 and 200 mg/day, respectively. The median duration of medication was 51 days (range, 14-378 days). Phenytoin treatment was effective in all patients; 13 patients (81.3%) experienced a total remission of their symptoms, and a significant reduction (66.7-85.7%) in the frequency of cramps was found in the remaining 3 patients. No adverse effects were reported by any of the patients. CONCLUSIONS: While this retrospective study was conducted with only a small number of patients, the clinical results suggest that phenytoin is a safe and helpful therapy for the treatment of nocturnal muscle cramps.
Drug Therapy ; Humans ; Magnesium ; Male ; Medical Records ; Muscle Contraction ; Muscle Cramp* ; Muscles ; Phenytoin* ; Quinine ; Retrospective Studies

OBJECTIVE: Rheumatoid arthritis (RA) is a systemic disease that can affect the cervical spine, especially the atlantoaxial region. The present study evaluated the risk factors for atlantoaxial subluxation (AAS) development and progression in patients who have undergone surgical treatment. METHODS: We retrospectively analyzed the data of 62 patients with RA and surgically treated AAS between 2002 and 2015. Additionally, we identified 62 patients as controls using propensity score matching of sex and age among 12667 RA patients from a rheumatology registry between 2007 and 2015. We extracted patient data, including sex, age at diagnosis, age at surgery, disease duration, radiographic hand joint changes, and history of methotrexate use, and laboratory data, including presence of rheumatoid factor and the C-reactive protein (CRP) level. RESULTS: The mean patient age at diagnosis was 38.0 years. The mean time interval between RA diagnosis and AAS surgery was 13.6±7.0 years. The risk factors for surgically treated AAS development were the serum CRP level (p=0.005) and radiographic hand joint erosion (p=0.009). The risk factors for AAS progression were a short time interval between RA diagnosis and radiographic hand joint erosion (p<0.001) and young age at RA diagnosis (p=0.04). CONCLUSION: The CRP level at RA diagnosis and a short time interval between RA diagnosis and radiographic hand joint erosion might be risk factors for surgically treated AAS development in RA patients. Additionally, a short time interval between RA diagnosis and radiographic hand joint erosion and young age at RA diagnosis might be risk factors for AAS progression.
Arthritis, Rheumatoid* ; C-Reactive Protein ; Diagnosis* ; Hand ; Humans ; Joints ; Methotrexate ; Propensity Score ; Retrospective Studies ; Rheumatoid Factor ; Rheumatology ; Risk Factors* ; Spine

No abstract available.
Carcinoma, Squamous Cell* ; Glossopharyngeal Nerve Diseases* ; Tongue Neoplasms ; Tongue*

The stress fracture of the femoral neck is an uncommon injury and delay in diagnosis occurs occasionally. It is generally classified as the compression type and the tension type. The compression type fracture of the femoral neck is stable, and could be treated nonoperatively. Tension type fracture is potentially unstable, and could require operative stabilization. The displacement of the femoral neck stress fractures has potential complications such as osteonecrosis of femoral head, malunion and nonunion. We have experienced two cases of compression type fractures that progressed to entire femoral neck despite conservative treatment with avoidance of weight bearing. These two cases shows even compression type of femoral neck fracture could further progress to entire femoral neck after conservative treatment, which could require operative treatment.
Displacement (Psychology) ; Femoral Neck Fractures ; Femur ; Femur Neck ; Fractures, Stress ; Head ; Neck ; Osteonecrosis ; Weight-Bearing

Acute calcific tendinitis in the hand is a very rare disease. We experienced two cases of acute calcific tendinitis of the abductor pollicis brevis in the hand. Both of the patients experienced pain, edema and erythema on radial side of metacarpophalangeal joint of thumb. We successfully treated the condition with aspiration and steroid injection under the ultrasonographic examination and subsequently, applied the casts. An improvement of the symptoms was observed with good results. In the present work, we report these cases with appropriate review of literatures.
Edema ; Erythema ; Hand ; Humans ; Metacarpophalangeal Joint ; Rare Diseases ; Tendinopathy ; Thumb

Objective: : We attempted to compare the incidence of pyogenic spondylitis (PS) and tuberculous spondylitis (TS) between 2007 and 2016. Furthermore, we investigated the patients who underwent surgery in 2016 compared to that in 2007. Methods: : We used a nationwide database managed by the Korean National Health Insurance Service (NHIS) in 2007 and 2016. Total 9655 patients with a newly diagnosis of PS or TS were enrolled in PS or TS group. Among them, 1721 patients underwent either fusion or decompression surgery. We analyzed demographic distribution of patients according to gender and age and year of diagnosis. Results: : Comparing between 2007 and 2016, the incidence of PS has increased in 2016 than in 2007 (4874 vs. 2431, p<0.0001). Conversely, declination of incidence of TS was discovered in 2016 compared to 2007 (594 vs. 1756, p<0.0001). Females showed predominance over males regarding both PS and TS (5228 vs. 4427, p<0.0001). Among them, the number of PS patients who underwent surgery increased significantly in 2016 relative to that in 2007 (979 vs. 592, p<0.0001). Conclusion : This nationwide study suggests that PS may increase and TS may decrease in Korea. In addition, demand for surgery regarding PS may increase.

OBJECTIVE: Categorical syndromes such as schizophrenia may represent complexes of many continuous psychological structural phenotypes along several dimensions of personality development/degeneration. The present study investigated the heritability and familiality of personality dimensions in Korean families with schizophrenic linkage disequilibrium (LD). METHODS: We recruited 179 probands (with schizophrenia) as well as, whenever possible, their parents and siblings. We used the Temperament and Character Inventory (TCI) to measure personality and symptomatic dimensions. The heritability of personality dimensions in a total of 472 family members was estimated using Sequential Oligogenic Linkage Analysis Routines (SOLAR). To measure familiality, we compared the personality dimensions of family members with those of 336 healthy unrelated controls using analysis of variance (ANOVA) analysis. RESULTS: Three of the seven TCI variables were significantly heritable and were included in subsequent analyses. The three groups (control, unaffected first-degree relative, case) were found to significantly differ from one another, with the expected order of average group scores, for all heritable dimensions. CONCLUSION: Despite several study limitations with respect to family recruitment and phenotyping, our results show that aberrations in several personality dimensions related to genetic-environment coactions or interactions may underlie the complexity of the schizophrenic syndrome.
Humans ; Linkage Disequilibrium* ; Parents ; Phenotype ; Schizophrenia ; Siblings ; Temperament*