• Journal of the Institute of Electronics and Information Engineers
• /
• v.51 no.12
• /
• pp.180-188
• /
• 2014

It is very important accurate diagnosis and quick treatment in cerebrovascular disease, i.e. stenosis or occlusion that could be caused by risk factors such as poor dietary habits, insufficient exercise, and obesity. Time-of-flight magnetic resonance angiography (TOF-MRA), it is well known as diagnostic method without using contrast agent for cerebrovascular disease, is the most representative and reliable technique. Nevertheless, it still has measurement errors (also known as overestimation) for length of stenosis and area of occlusion in celebral infarction that is built by accumulation and rupture of plaques generated by hemodynamic turbulence. The purpose of this study is to show clinical trial feasibility for 3D-SPACE T2, which is improved by using signal attenuation effects of fluid velocity, in diagnosis of cerebrovascular disease. To model angiostenosis, strictures of different proportions (40%, 50%, 60%, and 70%) and virtual blood stream (normal saline) of different velocities (0.19 ml/sec, 1.5 ml/sec, 2.1 ml/sec, and 2.6 ml/sec) by using dialysis were made. Cross-examinations were performed for 3D-SPACE T2 and TOF-MRA (16 times each). The accuracy of measurement for length of stenosis was compared in all experimental conditions. 3D-SPACE 2T has superiority in terms of accuracy for measurements of the length of stenosis, compared with TOF-MRA. Also, it is robust in fast blood stream and large stenosis than TOF-MRA. 3D-SPACE 2T will be promising technique to increase diagnosis accuracy in narrow complex lesions as like two cerebral small vessels with stenosis, created by hemodynamic turbulence.

• Journal of Genetic Medicine
• /
• v.4 no.1
• /
• pp.38-44
• /
• 2007

Purpose : Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type AT Pase. The phenotypic features are progressive neurological degeneration, mental retardation, loose skin, and vascular complications. Early diagnosis and treatment are very important for the prognosis of Menkes disease. Here, we describe nov el mutations of the ATP7A gene and prenatal diagnosis by mutation analysis. Methods : Five unrelated Korean Menkes patients were included in this study. They presented with depigmented wool-like hair, progressive neurologic deterioration, and hypotonia in infancy. Serum copper and ceruloplasmin levels w ere decreased. Brain magnetic resonance imaging revealed tortuous intracranial vessels. Mutation analysis has been carried out using cDNA from cultured skin fibroblasts or genomic DNA from peripheral leukocytes. Prenatal diagnosis was performed in two cases using chorionic villi samples or amniocytes. Results : Four novel mutations have been identified from four different families; c.3511+1G>A (p.E1099_N1171delinsMfsX 18), c.4005+5 G>A (p.V1268_R1335del), c.1870_2172del (p.S624_Q724del), and c.3352 G>A (p.G1118S). T he remaining one was previously reported (c.1933 C>T (p.V 1268_R1335del)). On prenatal DNA analysis, one w as diagnosed as normal, while the other turned out to be a female heterozygote with p.S624_Q724del mutation of the ATP7A gene. Conclusion : We identified 4 novel mutations of the ATP7A gene. Prenatal diagnosis in families at risk is critical in order to choose preventiv e options including an early treatment with copper-histidine therapy or therapeutic termination. Most mutations of the ATP7A gene were frame-shift mutations and prenatal diagnosis has been successfully carried out.

• Journal of the Korean Orthopaedic Association
• /
• v.55 no.4
• /
• pp.281-293
• /
• 2020

An anterior cruciate ligament (ACL) reconstruction is one of the most frequent surgical procedures in the knee joint, but despite the better understanding of anatomy and biomechanics, surgical reconstruction procedures still fail to restore rotational stability in 7%-16% of patients. Hence, many studies have attempted to identify the factors for rotational laxity, including the anterolateral ligament (ALL), but still showed controversies. Descriptions of the ALL anatomy are also confused by overlapping nomenclature, but it is usually known as a distinctive fiber running in an anteroinferior and oblique direction from the lateral epicondyle of the femur to the proximal anterolateral tibia, between the fibular head and Gerdy's tubercle. The importance of the ALL as a secondary restraint in the knee has been emphasized for successful ACL reconstructions that can restore rotational stability, but there is still some controversy. Some studies reported that the ALL could be a restraint to the tibial rotation, but not to anterior tibial translation. On the other hand, some studies reported that the role of ALL in rotational stability would be limited as a secondary structure because it bears loads only beyond normal biomechanical motion. The diagnosis of an ALL injury can be performed by a physical examination, radiology examination, and magnetic resonance imaging, but it should be assessed using a multimodal approach. Recently, ALL was considered one of the anterolateral complex structures, as well as the Kaplan fiber in the iliotibial band. Many studies have introduced many indications and treatment options, but there is still some debate. The treatment methods are introduced mainly as ALL reconstructions or lateral extra-articular tenodesis, which can achieve additional benefit to the knee stability. Further studies will be needed on the indications and proper surgical methods of ALL treatment.

• The Korean Journal of Nuclear Medicine
• /
• v.32 no.6
• /
• pp.490-496
• /
• 1998

Purpose: We evaluated brain perfusion SPECT findings of MELAS syndrome and mitochondrial myopathy in correlation with MR imaging in search of specific imaging features. Materials and Methods: Subjects were five patients (four females and one male; age range, 1 to 25 year) who presented with repeated stroke-like episodes, seizures or developmental delay or asymptomatic but had elevated lactic acid in CSF and serum. Conventional non-contrast MR imaging and Tc-99m-ethyl cysteinate dimer (ECD) brain perfusion SPECT were Performed and imaging features were analyzed. Results: MRI demonstrated increased T2 signal intensities in the affected areas of gray and white matters mainly in the parietal (4/5) and occipital lobes (4/5) and in the basal ganglia (1/5), which were not restricted to a specific vascular territory. SPECT demonstrated decreased perfusion in the corresponding regions of MRI lesions. In addition, there were perfusion defects in parietal (1 patient), temporal (2), and frontal (1) lobes and basal ganglia (1) and thalami (2). In a patient with mitochondrial myopathy who had normal MRI, decreased perfusion was noted in left parietal area and bilateral thalami. Conclusion: Tc-99m ECD SPECT imaging in patients with MELAS syndrome and mitochondrial myopathy showed hypoperfusion of parieto-occipital cortex, basal ganglia, thalamus and temporal cortex, which were not restricted to a specific vascular territory. There were no specific imaging features on SPECT. The significance of abnormal perfusion on SPECT without corresponding MR abnormalities needs to be evaluated further in larger number of patients.

• Journal of Oral Medicine and Pain
• /
• v.32 no.4
• /
• pp.441-447
• /
• 2007

Internal derangement of the temporomandibular joint(TMJ) is defined as an abnormal relationship of the articular disc to the condyle. Mandibular manipulation is one of the conservative treatments to be considered first to manage the patients with anterior disc displacement without reduction. Mandibular manipulation is used to increase articular mobility and to restore the displaced disc into an anatomically normal position. While Farrar's technique has been popularly used, Minagi et al., Mongini and Suarez introduced the manipulation technique conducted by the patients themselves. But there is no study on the efficacy of self-manipulation technique, comparing with conventional one. The aim of this study was to investigate the efficacy of the conventional and self-manipulation technique, which was modified to complement the previously described technique by Minagi et al., in the treatment of patients with anterior disc displacement without reduction. TMD patients, who visited Department of Oral Medicine of Seoul National University Dental Hospital from December, 2002 to November, 2004 and were diagnosed as anterior disc displacement without reduction by TMJ magnetic resonance imaging (MRI) were enrolled. Conservative treatments including physical therapy, exercise, behavioral therapy, stabilization splint therapy, and manipulation therapy were done to every single patient until the symptomsimproved enough to discharge the patient. The charts were reviewed retrospectively according to the type of manipulation. In the results, patients whose maximum mouth opening was more than 40 mm was higher in the self-manipulation group(69.9%) than in the conventional manipulation group(42.9%). But difference between two groups was not significant. According to the fact that we decided to discharge the patients whentheir mouth opening increased to more than 40 mm and subjective symptoms such as pain and discomfort were improved as well, treatment period of discharged patients was significantly shorter in the self-manipulation group($29.2{\pm}12.3$ weeks) than in the conventional manipulation group ($61.0{\pm}38.0$ weeks) (p<0.01). In conclusion, in the treatment of TMD patients with anterior disc displacement without reduction, the self-manipulation technique which is performed by patients themselves is an effective treatment modality for increasing the range of mouth opening and shortening the total treatment period.