Objective: Spinal muscular atrophy(SMA), an autosomal recessive neuromuscular degeneration of the anterior horn cells of the spinal cord and brain stem, results in one of the most common diseases with muscle fatigue and atrophy. Most SMA cases including all the types are due to the homozygous deletion of at least exon 7 within the survival motor neuron 1 (SMN-1) gene. Although a "golden standard" assay (PCR with mismatch primer followed by enzyme digestion) is very reliable for the identification of homozygous SMN-1 deletion, the carrier detection of heterozygous SMN-1 deletion remains a challenge. Methods: Some PCR-based gene dosage assays or multiplex PCR allow for the determination of the copy number of SMN-1 gene to identify heterozygous deletion, but these procedures are often time consuming and available on a limited clinical basis. Recently developed MLPA (multiplex ligation-dependent probe amplification) is an efficient procedure that can accurately analyze relative quantification to establish the copy number of the SMN gene. We performed a validation for simultaneous detection of homozygous SMN-1 deletions of SMA patients and heterozygous SMN-1 deletions of SMA carriers in a simple assay using a MLPA-SMA assay specific reagent. Results: Six out of 20 patients with SMA were found to have homozygous SMN-1 deletion, confirmed by the PCR/digestion assay. All 4 parents of the children with SMA had heterozygous SMN-1 deletion, confirmed by an independent relative quantitative analysis. Conclusion: MLPA provides a simple, rapid and accurate method of simultaneously detecting homozygous deletions and heterozygous deletions in a single assay for both SMN-1 and SMN-2 genes.

Apoptosis is a tightly regulated, cell deletion process that plays an important role in various cardiovascular diseases, such as myocardial infarction, reperfusion injury, and heart failure. Since cardiomyocyte loss is the most important determinant of patient morbidity and mortality, fully understanding the regulatory mechanisms of apoptotic signaling is crucial. In fact, the inhibition of cardiac apoptosis holds promise as an effective therapeutic strategy for cardiovascular diseases. Caspase, a critical enzyme in the induction and execution of apoptosis, has been the main potential target for achieving anti-apoptotic therapy. Studies suggest, however, that a caspase-independent pathway may also play an important role in cardiac apoptosis, although the mechanism and potential significance of caspase-independent apoptosis in the heart remain poorly understood. Herein we discuss the role of apoptosis in various cardiovascular diseases, provide an update on current knowledge about the molecular mechanisms that govern apoptosis, and discuss the clinical implications of anti-apoptotic therapies.
Apoptosis ; Apoptosis Inducing Factor ; Cardiovascular Diseases ; Cell Death ; Heart ; Heart Failure ; Humans ; Myocardial Infarction ; Myocytes, Cardiac ; Necrosis ; Reperfusion Injury

Cancer is a collection of complex diseases in which cell proliferation and apoptosis are dysregulated due to the acquisition of genetic changes in cancer cells. These genetic changes, combined with the interrelated physiologic adaptations of neo-angiogenesis, recruitment of stromal support tissues, and suppression of immune recognition, are measurable characteristics in tumor gene expression profiles and biochemical pathways. These measures can lead to identification of disease drivers and, ultimately, can be used to assign therapy. With advances in RNA sequencing technologies, the ability to simultaneously measure all genetic and gene expression changes with a single technology is now possible. The ability to create a comprehensive catalog of genotypic and phenotypic changes in a collection of histologically similar but otherwise distinct tumors should allow for a more precise positioning of existing targeted therapies and identification of new targets for intervention.
Animals ; Asian Continental Ancestry Group ; Cell Transformation, Neoplastic ; genetics ; Disease Models, Animal ; Drug Discovery ; Genes, Tumor Suppressor ; Helicobacter pylori ; Humans ; Neoplasms ; genetics ; Oncogenes ; Signal Transduction ; Stomach Neoplasms ; genetics ; microbiology ; therapy

PURPOSE: To evaluate the changes in the leg length discrepancy in idiopathic hemihypertrophy as a function of time. MATERIALS AND METHODS: A lower extremity scannogram was performed on 33 patients (16 boys and 17 girls) who were clinically diagnosed with idiopathic hemihypertrophy from September, 1985 to December, 1996. The leg length discrepancy was compared every 6 months. The mean age of the patients on the first visit was 1.6 years (range, 1 to 5 years) and the average follow up period was 9.1 years (range, 8 to 15 years). RESULTS: Not all the discrepancies continued to increase at a constant rate with time. The developmental discrepancy patterns identified were classified as follows: type I, increasing pattern; type II, increasing-plateau pattern; type III, plateau pattern; type IV, increasing-decreasing pattern; type V, decreasing pattern. Twenty five patients (75%) had types I and II discrepancy patterns. CONCLUSION: A continual periodic follow up of the leg length is important in idiopathic hemihypertrophy patients because the developmental patterns of a discrepancy in the length of a lower extremity can vary.
Follow-Up Studies ; Humans ; Leg* ; Lower Extremity

OBJECTIVE: The adolescent presentation of tethered cord syndrome (TCS) is well-recognized, but continues to pose significant diagnostic and management controversies. The authors conducted a retrospective study of clinical outcomes after surgical intervention in 24 school-aged children, adolescents, and young adults with TCS. METHODS: All 83 patients with a lipomyelomeningocele (LMMC) underwent untethering surgery for caudal cord tethering between 1987 and 2007. The clinical charts and follow-up data were reviewed. Of these patients, 24 school-aged children, adolescents, and young adults with TCS were studied with respect to the clinical, radiologic, pathologic features, and surgical outcomes. RESULTS: Untethering procedures were performed in 24 patients (age range, 7-25 years) for TCS of various origins (lipoma, lipomyelomeningocele, and tight filum terminale). Specific circumstances involving additional tugging of the already tight conus, and direct trauma to the back precipitated the onset of symptom in 50% of the patients. Diffuse and non-dermatomal leg pain, often referred to the anorectal region, was the most common presenting symptom. Progressive sensorimotor deficits in the lower extremities, as well as bladder and bowel dysfunction, were also common findings, but progressive foot and spinal deformities were noted less frequently. The most common tethered lesions were intradural lipomas, thickened filum and fibrous band adhesions into the placode sac. The surgical outcome was gratifying in relation to pain and motor weakness, but disappointing with respect to resolution of bowel and bladder dysfunction. Of the 24 patients with TCS, pre-operative deficits improved after surgery in 14 (58.3%), remained stable in 8 (33.4%), and worsened in 2 (8.3%). CONCLUSION: The pathologic lesions of tethered cord syndrome in school-aged children, adolescents, and young adults, are mostly intradural lipomas and tight filum. It is suggested that the degree of cord traction results in neurologic dysfunction in late life due to abnormal tension, aggravated by trauma or repeated tugging of the conus during exercise. Early diagnosis and adequate surgical release might be the keys to the successful outcome in school-aged children, adolescents, and young adults with TCS.
Adolescent ; Child ; Congenital Abnormalities ; Conus Snail ; Early Diagnosis ; Follow-Up Studies ; Foot ; Humans ; Leg ; Lipoma ; Lower Extremity ; Meningomyelocele ; Neural Tube Defects ; Neurologic Manifestations ; Retrospective Studies ; Traction ; Urinary Bladder ; Young Adult

The authors report a case of symptomatic epidural gas accumulation 2 weeks after the multi-level lumbar surgery, causing postoperative recurrent radiculopathy. The accumulation of epidural gas compressing the dural sac and nerve root was demonstrated by CT and MRI at the distant two levels, L3-4 and L5-S1, where vacuum in disc space was observed preoperatively and both laminectomy and discectomy had been done. However, postoperative air was not identified at L4-5 level where only laminectomy had been done in same surgical field, which suggested the relationship between postoperative epidural gas and the manipulation of disc structure. Conservative treatment and needle aspiration was performed, but not effective to relieve patient's symptoms. The patient underwent revision surgery to remove the gaseous cyst. Her leg pain was improved after the second operation.
Diskectomy ; Humans ; Laminectomy ; Leg ; Magnetic Resonance Imaging ; Needles ; Radiculopathy ; Vacuum

To describe the details of the foraminoplastic superior vertebral notch approach (FSVNA) with reamers in percutaneous endoscopic lumbar discectomy (PELD) and to demonstrate the clinical outcomes in limited indications of PELD. Retrospective data were collected from 64 patients who underwent PELD with FSVNA from August 2012 to April 2014. Inclusion criteria were high grade migrated disc, high canal compromised disc, and disc protrusion combined with foraminal stenosis. The clinical outcomes were assessed using by the visual analogue scale (VAS), Oswestry Disability Index (ODI) and modified MacNab criteria. Complications related to the surgery were reviewed. The procedure used a unique approach, using the superior vertebral notch as the target and performing foraminoplasty with only reamers under C-arm control. The mean age of the 55 female and 32 male patients was 52.73 years. The mean F/U period was 12.2+/-4.2 months. Preoperative VAS (8.24+/-1.25) and ODI (67.8+/-15.4) score improved significantly at the last follow-up (VAS, 1.93+/-1.78; ODI, 17.14+/-15.7). Based on the modified MacNab criteria, excellent or good results were obtained in 95.3% of the patients. Postoperative transient dysthesia (n=2) and reoperation (n=1) due to recurred disc were reported. PELD with FSVNA could be a good method for treating lumbar disc herniation. This procedure may offer safe and efficacious results, especially in the relatively limited indications for PELD.
Constriction, Pathologic ; Diskectomy* ; Female ; Follow-Up Studies ; Humans ; Male ; Reoperation ; Retrospective Studies

OBJECTIVE: So called "minimally invasive procedures" have evolved from chemonucleolysis, automated percutaneous discectomy, arthroscopic microdiscectomy that are mainly working within the confines of intradiscal space to transforaminal endoscopic technique to remove herniated epidural disc materials directly. The purpose of this study is to assess the result of endoscopic spinal surgery and favorable indications in the thoracolumbar spine. METHODS: The records of 71 patients, 73 endoscopic procedures, were retrospectively analysed. Yeung Endoscopic Spine Surgery system with 7 mm working sleeve and 25degrees viewing angle was used. The mean follow up period was 6 months (range,3-9). RESULTS: Operated levels were from T12-L1 disc down to L5-L6 or S1 disc. Of 71 cases, 2 patients underwent transforaminal endoscopic surgery twice due to recurrence after initial operation. MacNab's criteria was used to assess the outcome. Favorable outcome, excellent or good, was seen in 78% (57 procedures) of the patients. Among 11 fair outcomes, only 1 procedure was followed by secondary open procedure, laminectomy with discectomy. Two of 5 poor outcomes were operated again by same procedure which resulted in fair outcomes. One patient with aggravated cauda equina syndrome remained poor and a lumbar fusion procedure was performed in other patient with poor outcome. There were 2 postoperative discitis that were treated with conservative care in one and anterior lumbar interbody fusion in the other. CONCLUSION: Evolving technology of mechanical, visual instrument enables minimal invasive procedure possible and effective. The transforaminal endoscopic spinal surgery can reach as high as T12-L1 disc level. The rate of favorable outcome is mid-range among reported endoscopic lumbar surgery series. Authors believe that the outcome will be better as cases accumulate and will be able to reach the rate of standard open microsurgery.
Discitis ; Diskectomy ; Diskectomy, Percutaneous ; Follow-Up Studies ; Humans ; Intervertebral Disc Chemolysis ; Intervertebral Disc Displacement ; Laminectomy ; Microsurgery ; Polyradiculopathy ; Recurrence ; Retrospective Studies ; Spine

OBJECTIVES: It is necessary to improve the pathology workflow. A workflow task analysis was performed using a pathology picture archiving and communication system (pathology PACS) in order to propose a user interface for the Pathology PACS considering user experience. METHODS: An interface analysis of the Pathology PACS in Seoul National University Hospital and a task analysis of the pathology workflow were performed by observing recorded video. Based on obtained results, a user interface for the Pathology PACS was proposed. RESULTS: Hierarchical task analysis of Pathology PACS was classified into 17 tasks including 1) pre-operation, 2) text, 3) images, 4) medical record viewer, 5) screen transition, 6) pathology identification number input, 7) admission date input, 8) diagnosis doctor, 9) diagnosis code, 10) diagnosis, 11) pathology identification number check box, 12) presence or absence of images, 13) search, 14) clear, 15) Excel save, 16) search results, and 17) re-search. And frequently used menu items were identified and schematized. CONCLUSIONS: A user interface for the Pathology PACS considering user experience could be proposed as a preliminary step, and this study may contribute to the development of medical information systems based on user experience and usability.
Diagnosis ; Information Systems ; Medical Records ; Pathology* ; Radiology Information Systems ; Seoul ; Task Performance and Analysis ; User-Computer Interface ; Workflow

We investigated the actual status of antipsychotics maintenance therapy(AMT) for schizophrenic patients through a mail survey sent to psychiatrists practicing in Seoul and Kyonggj province who had no less than two years of psychiatric expertise and who were below fifty years of age. Out of 453 questionnaires sent, 215 completed questionnaires were returned (response rate 47%). The majority of respondents considered pharmacotherapy as the most important longterm treatment strategy for schizophrenia. Haloperidol was selected by the majority as their first choice neuroleptics. The proposed mean daily maintenance dosage was 383+/-229(75-1250)mg in chlorpromazine equivalent. The mean duration of AMT was 1.8+/-1.0(0.25-7.5)years after the first episode and 3.6+/-1.8(0.5-10)years after multi-episodes. Psychotherapy was regarded as more important by the resident psychiatrists group than by the certified psychiatrists. There were preferential differences for a particular treatment strategy, dosage and duration of AMT among the different clinics. A great number of respondents(93%) regarded long-term continuous maintenance as their major AMT policy, Only a few respondents(4.3%) were satisfied with the established guidelines for AMT in treatment of schizophrenia. The results show considerable variations in psychiatrists opinions on AMT which was influenced by grades of expertise of the clinician and the working environment of the clinic or the hospital. To decrease these variabilities and make clinically useful guidelines, it will be necessary' to do further pharmacoepidemiological studies as well as other types of related clinical research.
Antipsychotic Agents* ; Chlorpromazine ; Surveys and Questionnaires ; Drug Therapy ; Haloperidol ; Humans ; Postal Service ; Psychiatry ; Psychotherapy ; Schizophrenia ; Seoul*