[en] Myotonic dystrophy type1 (DM1) is the most common inherited adult muscular disease. Clinical features of DM1 include myotonia, progressive muscle weakness and wasting, cataract, endocrine abnormalities, heart conduction defects, and reduced cognitive ability. DM1 is caused by the expansion of an unstable of CTG repeat in the 3'-UTR of the DMPK gene. The SIX5 gene is located downstream of DMPK. Expansions of the CTG repeat eliminate an enhancer element of SIX5.There may be several mechanisms by which the repeat expansion causes the DM1 phenotype and the SIX5 transcript has been shown in several studies to be reduced in DM1 patients in a repeat dependent manner. In the work described here the SIX5 consensus sequence was identified as CCGGTGTCTG using random oligonucleotide selection. Gel shift assays were performed using this consensus binding site labeled with [α- ³²P] dCTP and expressed GST fusion protein of the SIX- and homeodomains (GST-SIX+HD). Bioinformatic screens of the human genome identified gene sequences containing the SIX5 binding site that indicate likely candidate genes for regulation by SIX5. Gel shift assays showed that (GST-SIX+HD) binds to the dopamine D5 receptor gene, calcium-activated potassium channel gene, Myogenin, DOCK180, the insulin receptor gene, tissue plasminogen activator etc.

[en] Palliative care has its roots in hospice movement arising in the 1970s in Europe and later also in America. From its beginning it has had connection with patients in terminal phase of cancer disease who suffered from many serious symptoms. Nowadays palliative care is also being provided to patients in terminal phase of certain neurological disorders, AIDS, exceptionally for patients with heart, lung or kidney failure. It has become part of modern medicine and of good clinical practice. (author)

[en] We report a case of a woman presenting with right severe buttock claudication and normal neurological and osteoarticular examination, in whom a guidewire recanalization and percutaneous transluminal angioplasty (PTA) of an occluded right superior gluteal artery (SGA) has provided relief of her symptoms. To our knowledge, this is the first report of percutaneous recanalization of the SGA. PTA can be considered the treatment of choice for buttock claudication caused by SGA stenosis or occlusion.

[en] The author obtained individualizes lateral cephalometric tomograms form 23 young adults (46 of left and right normal TMJ) with normal occlusion and 20 patients (14 of patient asymptomatic TMJ and 26 of patient symptomatic TMJ) with clicking and painful TMJ after the analysis of submental vertex view. Individualized lateral cephalometric tomogram analysis and TMJ space analysis were performed after tracing each film. All data form these analysis was recorded and statistically processed with CYBER computer system. The results were obtained as follows: 1. In submental vertex view, the mean condylar angulation of Rt. side in normal group was 20.348 degrees ± 6.358 degrees, Lt. si de was 18.870 degrees ± 7.777 degrees and Rt. side in patient group was 19.350 degrees ± 7.576 degrees, Lt, side was 17.750 degrees ± 6.146 degrees respectively. The mean condylar angulation of Rt. side was larger than Lt, side in normal and patient group. 2. When the mandible was moved from centric occlusion to centric relation, condylar position relating to the glenoid fossa was placed posteriorly and superiorly in normal TMJ group and patient symptomatic TMJ group. 3. In centric relation position, the proportion of anterior space to posterior space was 1.593 for normal TMJ group , 1.604 for patient asymptomatic TMJ group and 1.671 for patient symptomatic TMJ group. In centric occlusion position, 1.390 for normal TMJ group, 1.539 for patient asymptomatic TMJ group and 1.196 for patient asymptomatic group. 4. Normal TMJ group, patient asymptomatic TMJ group and patient symptomatic TMJ group and patient symptomatic TMJ group revealed significant difference in C2 measurement. (ANOVA-test, P<0.05) br> 5. Normal group and patient group revealed significant in Fh, C1 and C2 measurement. (T-test, P<0.05)>

[en] Introduction: Restenosis after carotid endarterectomy (CEA) has been described in 8–19% of patients, 14–23% of whom become symptomatic. This study analyzes our experience with carotid artery stenting (CAS) for post-CEA recurrent stenoses.MethodRetrospective database and case-note review. Results: Between January 2000 and September 2008, a total of 27 patients (15 symptomatic) with hemodynamically significant internal carotid artery post-CEA restenosis underwent CAS. Median stenosis of target vessels was 90% (range 75–95%). There was one periprocedural death (3.7%); no others occurred during the median 34-month follow-up (range 0.1–84 months). There was one late transient ischemic attack 12 months after CAS that was not associated with in-stent restenosis. One 90% restenosis and one occlusion were detected during follow-up at 38 and 57 months after CAS. The remaining patients had no evidence of further restenosis and remained free from cerebrovascular symptoms. Conclusion: CAS offers a feasible option for the management of carefully selected patients with symptomatic and asymptomatic restenosis after CEA.

[en] This is the case of a patient presenting with right temporoparietal subacute hematoma secondary to a physical act of aggression. In clinical picture at 24 hours there was predominance of headache of moderate intensity with drowsiness and slight psychomotor restlessness. The skull single radiographies didn't show alterations. Symptoms remained despite the medical treatment, thus a single skull axial tomography was carried out showing the presence of a right temporoparietal subacute epidural hematoma with displacement from the middle line structures. A right temporoparietal craniotomy was carried out to evacuation of the posterior hematoma. Patient evolved satisfactorily with a total recovery as much clinical as imaging. (author)

[en] Golfer's fracture is stress fracture of the posterior portion of left 3, 4, 5, 6 or 7th ribs of golfer's, usually beginners,and it is considered due to exposure to unaccustomed severe exercise of this fascinating sport. Healing is usually uneventful, but possible complication may occur, because symptom is mild and golfers continue the exercise with physical therapy such as massage. Author report 4 cases of golfer's fracture, including 1 case complicated by platelike at electasis of lung.

[en] The styloid process is a cylindrical, long cartilaginous bone located on the temporal bone. The calcified stylohyoid ligament and elongated styloid process can be identified radiographically, and they are associated with a number of syndromes and symptoms. The exact cause of the styloid process elongation due to calcification and subsequent ossification of ligament is unclear. This report presents a case of severely calcified stylohyoid ligament complex occurred in twins who have the same pattern of calcification.

[en] The purpose of this study was to find the relationship among the joint status, pain and effusion in patients with temporomandibular joint disorders. Materials included 406 patients (812 joints) with clinical records and bilateral TMJ MRIs in TMJ clinic, Yongdong Severance Hospital. All joints were classified in 4 groups in MR images according to the disc status of joint; normal disc position, disc displacement with reduction (DDsR), and also 2 groups according to the bony status of joint; normal bony structure and osteoarthrosis. MR evidence of joint effusion was categorized in 4 groups according to its amount. To determine the relationship between joint pain and joint effusion, 289 patients with unilateral TMJ symptoms were selected from total materials. Joint effusion was found 8.0% in normal disc position, 32.6% in DDcR, and 59.2% in DDsR (83.1% in early state and 23.1% in late stage). Joint effusion was found 39.7% in osteoarthrosis and 35.0% in normal bony structure. Joint effusion was more found in the painful joints (49.8%) than in the painless joints (22.4%) (p<0.001). Joint effusion in the early stage of DDsR only was more found significantly in painful joints (91.9%) than in painless joints (62.1%) (p<0.001). MR evidence of joint effusion might be related to disc displacement regardless of the presence of osteoarthrosis, and the early stage of DDsR was found more frequently combined with joint effusion and joint pain

[en] 1. A study on chest radiographic findings of 54 cases with pneumonia like symptoms was performed. Of 54 cases, 8 cases were confirmed to be leptospirosis and 7 cases were leptospirosis combined with Korean hemorrhagic fever. 2. Of 8 cases of leptospirosis, 4 cases showed abnormal chest radiographic findings: acinar nodular type 2, massive confluent consolidation type 2. Of 7 cases of leptospirosis combined with Korean hemorrhagic fever: acinar nodular type 3, massive confluent consolidation type 1, and increased interstitial markings type 1 respectively. 3. It was considered to be difficult to diagnose the leptospirosis on chest radiographic findings alone, especially the case combined with Korean hemorrhagic fever.