Williams syndrome is a progressive and multisystemic disorder. We experienced one case of Willams syndrome which was characterized by elfin facies, mental retardation, diffuse aortic hypoplasia, mitral regurgitation and chronic nonparoxysmal sinus tachycardia. The tachycardia has been managing with beta-blocker successfully. We presented a case of unusual form of Williams syndrome with a reivew of literatures.
Facies ; Intellectual Disability ; Mitral Valve Insufficiency ; Tachycardia ; Tachycardia, Sinus ; Williams Syndrome*

Traumatic dislocation of the hip presents serious problems that may lead to avascular necrosis, nerve palsy, post-traumatic arthritis even when reduction is promptly and adequately carried out. Among them avascular necrosis is the most important prognostic factor, so the early detection of this complication has critical significance for final result. Bone scan has been considered one of early diagnostic test, but recently MRI replaced its role for imaging in the detection of early AVN, treatment monitoring and prediction of prognosis. Authors prospectively studied the early finding of MRI to detect avascular necrosis of the femoral head and to predict prognosis in traumatic hip dislocation and fracture-dislocation. From December 1990 to November 1994, 12 case of dislocation and fracture-dislocation of the hip were studied . In follow up period ranging from 19 months to 65 months, 10 case had excellent or good result. All cases had abnormal MRI finding such as paraarticular edema, capsular bulging, joint effusion, femoral head fracture, but findings such as femoral head signal changes were dectected in only 3 cases. Among the 3 cases, 1 case had developed AVN and 2 cases were uneventful. Other complications were 3 cases of posttraumatic arthritis, 2 cases of incomplete sciatic nerve palsy, and 1 case of heterotrophic ossification. Although early MRI finding at posttrauma 2weeks gave less specific information, it could give good information for risk group and follow up control with more cases. Although it is expensive, MRI can be one of the most reliable reference in early diagnosis of AVN and prediction of prognosis in traumatic dislocation and fracture- dislocation of the hip with non-invasive method.
Arthritis ; Diagnostic Tests, Routine ; Dislocations ; Early Diagnosis ; Edema ; Follow-Up Studies ; Head* ; Hip Dislocation* ; Hip Joint ; Hip* ; Joints ; Magnetic Resonance Imaging* ; Necrosis ; Paralysis ; Prognosis ; Prospective Studies ; Sciatic Neuropathy

No abstract available.
Abscess* ; Nocardia*

PURPOSE: The purpose of this retrospective study was to evaluate clinical outcomes of endoscopic nerve decompression in patients with deep gluteal syndromes (DGS). MATERIALS AND METHODS: Between October 2013 and March 2015, 24 patients who underwent surgical treatment of DGS were retrospectively included in this study. The mean age was 47 years (range, 35 to 76 years), and there were 11 males and 13 females. The mean duration of pain was 12 months (range, 5 to 35 months) and the mean follow-up period was 32 months (range, 26 to 45 months). Clinical evaluations included the visual analog scale (VAS) pain score, modified Harris hip score (mHHS), and the symptom-rating scale. RESULTS: Significant improvement in symptoms following endoscopic decompression were achieved as measured using the VAS score (decrease in the mean from 7.1±0.9 to 2.5±1.5; P < 0.001) and mHHS (increase from 59.4±6.5 to 85.0±8.3; P < 0.001). CONCLUSION: Endoscopic sciatic nerve decompression was satisfactory for treating recalcitrant DGS, making it an effective treatment option to improve symptoms of DGS.
Decompression ; Female ; Follow-Up Studies ; Hip ; Humans ; Male ; Retrospective Studies ; Sciatic Nerve ; Visual Analog Scale

PURPOSE: The outcome of hip arthroscopy as a treatment of patients with hip dysplasia is variable. In patients with severe hip dysplasia, arthroscopy has the potential to exacerbate instability and unfavorable outcome. To the best of out knowledge, there has not been a report regarding arthroscopic treatment in patients with borderline hip dysplasia in Korea. We favorable outcome with using arthroscopy to treat symptomatic borderline hip dysplasia. MATERIALS AND METHODS: Between August 2010 and February 2015, 143 patients undergoing hip arthroscopy for intra-articular hip disorder were retrospectively enrolled. From this cohort, a borderline dysplasia group compromising 29 patient with lateral center edge angle (LCEA) >18° and <25° and a minimum of 1 years follow-up, was identified. Patient-reported outcome scores, including modified Harris hip score, the hip outcome score-activity of daily living, the sport-specific subscale, visual analogue scale (VAS) and satisfaction survey were obtained preoperatively and at postoperative 3 months, 6 months, 1 year, 2 years, and 3 years. Revision surgery and complications were recorded for each group. RESULTS: The mean age was 35.7 years (range, 16–63 years) years respectively. There were 16 females (55.2%) and 13 males (44.8%). The mean LCEA was 22.0° (range, 18°–25°) and the mean Tönnis angle was 6.1° (range, 0°–18°). The mean follow-up was 20.2 months (range, 12–39 months), and at the 1 year follow-up, there was significant improvement (p<0.001) in all patient reported outcome scores and VAS. Satisfaction survey showed an average score of 7.7. CONCLUSION: In patients with borderline hip dysplasia, if there is an occurrence of symptomatic labral tear, arthroscopic labral refixation has a good short-term result. Therefore, if patients have no response to conservative treatment or have severe pain, arthroscopic labral refixation is a useful treatment options to relieve symptom.
Arthroscopy* ; Cohort Studies ; Female ; Follow-Up Studies ; Hip Dislocation* ; Hip* ; Humans ; Korea ; Male ; Retrospective Studies ; Tears

Glycosphingolipids including gangliosides play important regulatory roles in cell proliferation and differentiation. UDP-glucose:ceramide glucosyltransferase (Ugcg) catalyze the initial step in glycosphingolipids biosynthesis pathway. In this study, Ugcg expression was reduced to approximately 80% by short hairpin RNAs (shRNAs) to evaluate the roles of glycosphingolipids in proliferation and neural differentiation of mouse embryonic stem cells (mESCs). HPTLC/immunofluorescence analyses of shRNA-transfected mESCs revealed that treatment with Ugcg-shRNA decreased expression of major gangliosides, GM3 and GD3. Furthermore, MTT and Western blot/immunofluorescence analyses demonstrated that inhibition of the Ugcg expression in mESCs resulted in decrease of cell proliferation (P < 0.05) and decrease of activation of the ERK1/2 (P < 0.05), respectively. To further investigate the role of glycosphingolipids in neural differentiation, the embryoid bodies formed from Ugcg-shRNA transfected mESCs were differentiated into neural cells by treatment with retinoic acid. We found that inhibition of Ugcg expression did not affect embryoid body (EB) differentiation, as judged by morphological comparison and expression of early neural precursor cell marker, nestin, in differentiated EBs. However, RT-PCR/immunofluorescence analyses showed that expression of microtubule- associated protein 2 (MAP-2) for neurons and glial fibrillary acidic protein (GFAP) for glial cells was decreased in neural cells differentiated from the shRNA-transfected mESCs. These results suggest that glycosphingolipids are involved in the proliferation of mESCs through ERK1/2 activation, and that glycosphingolipids play roles in differentiation of neural precursor cells derived from mESCs.
Animals ; *Cell Proliferation ; Cells, Cultured ; Down-Regulation ; Embryonic Stem Cells/*cytology/metabolism ; Glucosyltransferases/genetics/metabolism ; Glycosphingolipids/genetics/*metabolism ; Mice ; Mitogen-Activated Protein Kinases/metabolism ; *Neurogenesis ; Neurons/*cytology/metabolism ; RNA, Messenger/genetics

BACKGROUND: It has been suggested that cytotoxin associated gene A (cagA) is a marker of more virulent strains of H. pylori and cagA bearing H. pylori is more pathogenic in the gastrointestinal diseases. On the other hand, according to several reports H. pylori causes the cell proliferation, which may be an important mechanism of gastric carcinogenesis. So, we studied to elucidate whether there is the association of the cagA positive H. pylori infection with cell proliferation on the gastric mucosae of the patients with gastritis and gastric cancer or not. METHODS: In this study, 27 gastritis and 35 gastric cancer patients were included. PCR assay for the detection of H. pylori(ureA PCR) and cagA bearing H. pylori(eagA PCR) were performed on the gastric mucosal biopsy specimen. Immunohistochemical study using the MIB 1 Ab against Ki 67 antigen was carried out to evaluate the cell proliferation. RESULTS: The prevalence of H. pylori infection was 85.2%(23/27) in the patients with gastritis and 54.3%(19/ 35) in the patients with gastric cancer. The prevalence of cagA+ strain of H. pylori was 52.2%(12/23) and 47.4%(9/ 19) in the patients with gastritis and gastric cancer. In the patients with gastritis, the degree of cell proliferation was not different in the ureA positive(24.8%) and ureA negative(21.7%) gastric mucosae. Moreover, the difference of cell proliferation was not observed according to the presence or absence of cagA gene(29.4% vs 19.9%) among the ureA positive gastric mucosae. In the patients with gastric cancer, cell proliferation indices were 25.5% and 27.5% in the ureA postive and cagA negative gastric mucosae, 28.1% and 22.2% in the cagA positive and cagA negative group among the ureA positive gastric mucosae. There was no significant difference statistically. CONCLUSIONS: There was no association of cagA+ strain of H. pylori with cell proliferation in the gastric mucosae of the patients with gastritis and gastric cancer. It was presumed that more studies are needed to elucidate the role of H. pylori infection in the gastric carcinogenesis.
Biopsy ; Carcinogenesis ; Cell Proliferation* ; Gastric Mucosa* ; Gastritis* ; Gastrointestinal Diseases ; Hand ; Helicobacter pylori* ; Helicobacter* ; Humans ; Ki-67 Antigen ; Polymerase Chain Reaction ; Prevalence ; Stomach Neoplasms* ; Urea

The authors treated 26 cases of extramedullary tumors around foramen magnum and craniocervical junction by various surgical approaches between 1982 and February 1993. They are 12 meningiomas, 9 neurinomas, 3 chordomas, 1 teratoma and 1 capillary lymphangioma. Among them, 7 cases are located at anterior portion of foramen magnum, 6 cases at anterolateral portion, 2 cases at lateral portion, 7 cases at posterolateral portion, and 4 cases are posteriorly located. These tumors were attacked via various surgical approaches. 19 cases were treated by conventional suboccipital approach, 5 cases by far lateral suboccipital approach and 2 cases of chordoma by transoral approach which was combined with far lateral suboccipital approach. So, 19 cases of tumors were removed completely, but 7 cases were subtotally removed. There was 1 case of operative mortality and in 2 cases of meningioma there was permanent lower cranial nerve palsy. Pyogenic meningitis due to CSF leakage developed in 2 cases of chordoma which were treated by transoral approach.
Capillaries ; Chordoma ; Cranial Nerve Diseases ; Foramen Magnum* ; Lymphangioma ; Meningioma ; Meningitis ; Mortality ; Neurilemmoma ; Teratoma

Eagle's syndrome is a disease caused by an elongated styloid process or calcified stylohyoid ligament. Eagle defined the disorder in 1937 by describing clinical findings related to an elongated styloid process, which is one of the numerous causes of pain in the craniofacial and cervical region. The prevalence of individuals with this anatomic abnormality in the adult population is estimated to be 4% with 0.16% of these individuals reported to be symptomatic. Eagle's syndrome is usually characterized by neck, throat, or ear pain; pharyngeal foreign body sensation; dysphagia; pain upon head movement; and headache. The diagnosis of Eagle's syndrome must be made in association with data from the clinical history, physical examination, and imaging studies. Patients with increased symptom severity require surgical excision of the styloid process, which can be performed through an intraoral or an extraoral approach. Here, we report a rare case of stylohyoid ligament bilaterally elongated to more than 60 mm in a 51-year-old female. We did a surgery by extraoral approach and patient's symptom was improved.
Adult ; Deglutition Disorders ; Diagnosis ; Eagles ; Ear ; Female ; Foreign Bodies ; Head Movements ; Headache ; Humans ; Ligaments ; Middle Aged ; Neck ; Pharynx ; Physical Examination ; Prevalence ; Sensation

PURPOSE: Defecography is a dynamic investigation which can influence clinical decision making in patients with pelvic outlet obstructive disease (POOD). The current study was designed to establish defecographic findings in patients with POOD. Specifically, we sought to assess the physiologic characteristics of categorized types by using anorectal physiologic tests. METHODS: One hundred seven patients (disease group; 45 men, 62 women) with POOD were retrospectively categorized as type I [non-relaxation of puborectalis (NRPR) only, n=19], type II [NRPR and rectocele, n=20], type III [NRPR, rectocele, and dynamic perineal descent (PD), n=17], type IV [deformed rectocele, mild-to-moderate fixed PD, and absence of NRPR, n=29], and type V [rectocele, severe fixed PD, and absence of NRPR, n=20] on the bases of defecographic findings. The ability to evacuate, the frequency/degree of intarectal intussusception (IRI), and the size of the rectocele were evaulated in these defecographic types of POOD. Age, duration of symptoms, and the physiologic findings of anal manometry and EMG/PNTML were compared for the five types. Eighteen healthy volunteers who had no defecation difficulty were used to estimate the normal findings of defecography. RESULTS: The age and the sex showed no significant differences among the types. The duration of symptoms was gradually lengthened from type I to V (P<0.01). The ability to evacuate in patients with POOD was significantly worse (failed to effectively evacuate) compared to that in the healthy volunteers (P<0.01). The frequency of IRI was increased more and more from type I to V (P<0.01). The size of the rectocele was significantly increased in types V compared to the other types (P<0.01). Manometric and neurologic findings, including EMG/PNTML, revealed no significant differences among the types. CONCLUSIONS: Even though there were no specific differences in the findings of the anal manometric and neurologic tests, the evacuation dynamics; were different in the five defecographic categories of patients with POOD. Specifically, these differences were relevants to the presence of NRPR, rectoceles, IRI, and perineal descent.
Decision Making ; Defecation ; Defecography ; Healthy Volunteers ; Humans ; Intussusception ; Male ; Manometry ; Neurologic Manifestations ; Rectocele ; Retrospective Studies