Spinal muscular atrophy(SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease of childhood after Duchenne muscular dystrophy. The genetic defect was found to be on the long arm of chromosome 5(5q11.2-q13.3) where many genes and microsatellite markers were missing. One of the most important genes is the Survival Motor Neuron(SMN) gene which is homozygously missing in 90% of SMA patients. Another important gene, the Neuronal Apoptosis Inhibitory Protein(NAIP) gene was found to be defective in 67% of SMA type I patients. Studies so far suggest SMA occurs when the genes on the long arm of chromosome 5 are mutated or deleted. Recently our hospital encountered 2 SMA patients of type I and II respectively. These patients both had homozygously defective SMN genes but intact NAIP genes. We are reporting these cases with bibliographic review and discussion. Korean SMA patients presumably have defects in SMN genes similar to those found in European patients, although the siginificance of NAIP genes remains to be established. SMN gene defects can be easily diagnosed using PCR and restriction enzymes, and this method could be applied towards convenient prenatal diagnosis and towards screening for family members at risk.
Apoptosis ; Arm ; Chromosomes, Human, Pair 5 ; Diagnosis* ; Humans ; Mass Screening ; Microsatellite Repeats ; Muscular Atrophy, Spinal* ; Muscular Dystrophy, Duchenne ; Neuromuscular Diseases ; Neurons ; Polymerase Chain Reaction ; Prenatal Diagnosis ; Wills

PURPOSE: The arterial switch operation (ASO) has become the preferred procedure for the surgical management of transposition of the great arteries (TGA). We conducted a retrospective evaluation of our experience in 30 patients seen from January 2003 to July 2008, in order to determine outcomes and related risk factors after the arterial switch operation. METHODS: Patients charts, surgical reports, and echocardiograms were retrospectively reviewed. And they were analyzed in 2 different groups: complex (n=16) versus simple TGAs (n=14). Complex TGAs are TGAs with VSD or the Taussig-Bing anomaly with or without aortic arch anomalies. Simple TGAs are defined as TGAs with intact ventricular septum having no such anomalies. Median follow-up time was 44 months (3-63 months). RESULTS: Hospital mortality was 0%. However, follow-up echocardiographies revealed potential complications, including stenosis of the branch pulmonary arteries, neo-aortic and/or neo-pulmonary valvar regurgitation, and right or left ventricular outflow tract obstructions. Great arterial relationship (side-by-side), association of aortic arch anomalies, and the existence of the Taussig-Bing anomaly were assessed as significant risk factors of neo-aortic and/or neo-pulmonary valvar regurgitation in this series. On the other hand, right or left ventricular outflow tract obstructions were more frequently found in patients demonstrating VSD, side-by-side positioned great arteries, or associated coronary anomalies. CONCLUSION: The ASO is the procedure of choice in the treatment of TGA. However, special attention and follow-ups are needed to detect residual problems like the stenosis of the branch pulmonary arteries, neo-aortic and/or neo-pulmonary valvar regurgitation, as well as ventricular outflow tract obstructions.
Aorta, Thoracic ; Arteries ; Constriction, Pathologic ; Double Outlet Right Ventricle ; Follow-Up Studies ; Hand ; Hospital Mortality ; Humans ; Postoperative Complications ; Pulmonary Artery ; Retrospective Studies ; Risk Factors ; Transposition of Great Vessels ; Ventricular Septum

No abstract available.

The bone and dentin have distinct healing processes. The healing process of bones is regenerative, as newly formed tissues are morphologically and functionally similar to the original bone structures. In contrast, the healing process of dentin is reparative due to its failure to replicate some of its key morphological features. In this review, we compare and contrast the healing processes of bone and dentin. We describe how distinct morphological and physiological structures of the 2 tissues translate into different signaling molecules, growth factors, and matrix protein secretion.

PURPOSE: The second toe PIP joint free flap is a method of reconstruction used for abnormalities of the PIP joint of the finger. We report the results of the additional tenolysis in patients with a difference between passive ROM and active ROM after second toe PIP joint free flap. METHODS: From March 2001 to July 2008, tenolysis was performed in patients with a difference in their active and passive ROM after second toe PIP joint free transfer, performed on 14 fingers. We performed a retrospective analysis of the medical records, noting the clinical and radiological findings. In addition, we measured the preoperative and postoperative range of motion of the PIP joint. RESULTS: The average active ROM was 22.5degrees in three months after the joint transfer surgery, and was 38degrees after additional tenolysis from five months to twelve months after the joint transfer. CONCLUSIONS: Additional tenolysis, after the second toe PIP joint free flap, might be a good option with an improved results in patients with difference in active and passive ROM of a transferred PIP joint.
Fingers ; Free Tissue Flaps ; Humans ; Joints ; Medical Records ; Range of Motion, Articular ; Retrospective Studies ; Toes

PURPOSE: Traditionally, external bleeding is needed when only an arteriorrhaphy can be performed in cased where a venorrhaphy cannot be done at the initial reconstruction for a zone I complete amputation. However, this salvage procedure has several iatrogenic complications. Therefore, we did not perform an external bleeding procedure, in cases where external bleeding was not appropriate due to the small size of the stump. METHODS: From September 2006 to August 2007, 19 fingertip amputations, among 18 patients, were performed using only arteriorrhaphy without external bleeding; In total 95 fingertip amputations, with venorrhaphy or external bleeding procedures were excluded. The results were reviewed retrospectively to compare survival and complication rates. RESULTS: The survival rate of only arteriorrhaphy without external bleeding is 84.2%. Additional operations for soft tissue problems of total or partial necrosis were performed in 5 cases. CONCLUSION: We found no differences in the survival and complication rates of only arteriorrhaphy without external bleeding compared to results of only arteriorrhaphy with external bleeding in other articles. Therefore, our results suggest that in some cases with a fingertip amputation, performing arteriorrhaphy only, without external bleeding, might be a better option than external bleeding due to reduced iatrogenic injuries and complications.
Amputation ; Hemorrhage ; Humans ; Necrosis ; Replantation ; Retrospective Studies ; Survival Rate

BACKGROUND: Reoperation is usually required for a right ventricle to pulmonary artery conduit obstruction caused by valve degeneration, conduit peel formation or somatic growth of the patient. An autologous tissue reconstruction (peel operation), where a prosthetic roof is placed over the fibrotic tissue bed of the explanted conduit, has been used to manage conduit obstructions at our institute since May 2002. Herein, the early and midterm results are evaluated. MATERIAL AND METHOD: Between May 2002 and July 2006, 9 patients underwent obstructed extracardiac conduit replacement with an autologous tissue reconstruction, at a mean of 5.1 years after a Rastelli operation. The mean age at reoperation was 7.5+/-2.4 years, ranging from 2.9 to 10.1 years. The diagnoses included 6 pulmonary atresia with VSD, 2 truncus arteriosus and 1 transposition of the great arteries. The preoperative mean systolic gradient was 88.3+/-22.2 mmHg, ranging from 58 to 125 mmHg. The explanted conduits were all Polystan valved pulmonary conduit (Polystan, Denmark). A bioprosthetic valve was inserted in 8 patients, and a monocusp ventricular outflow patch (MVOP) was used in 1 patient. The anterior wall was constructed with a Gore-Tex patch (n=7), MVOP (n=1) and bovine pericardium (n=1). Pulmonary artery angioplasty was required in 5 patients and anterior aortopexy in 2. The mean cardiopulmonary bypass time was 154 minutes, ranging from 133 to 181 minutes; an aortic crossclamp was not performed in all patients. The mean follow-up duration was 20 months, ranging from 1 to 51 months. All patients were evaluated for their right ventricular outflow pathway using a 3-D CT scan. RESULT: There was no operative mortality or late death. The mean pressure gradient, assessed by echocardiography through the right ventricular outflow tract, was 20.4 mmHg, ranging from 0 to 29.6 mmHg, at discharge and 26 mmHg, ranging from 13 to 36 mmHg, at the latest follow-up (n=7, follow-up duration >1 year). There were no pseudoaneurysms, strictures or thrombotic occlusions. CONCLUSION: A peel operation was concluded to be a safe and effective re-operative option for an obstructed extracardiac conduit following a Rastelli operation.
Aneurysm, False ; Angioplasty ; Arteries ; Cardiopulmonary Bypass ; Constriction, Pathologic ; Diagnosis ; Echocardiography ; Follow-Up Studies ; Heart Ventricles ; Humans ; Mortality ; Pericardium ; Polytetrafluoroethylene ; Pulmonary Artery ; Pulmonary Atresia ; Reoperation ; Tomography, X-Ray Computed ; Truncus Arteriosus

OBJECTIVE: To assess the impact of aging on masticatory muscle function according to changes in hardness of solid food. METHODS: Each of fifteen healthy elderly and young people were selected. Subjects were asked to consume cooked rice, which was processed using the guidelines of the Universal Design Foods concept for elderly people (Japan Care Food Conference 2012). The properties of each cooked rice were categorized as grade 1, 2, 3 and 4 (5×10³, 2×10⁴, 5×10⁴, and 5×10⁵ N/m²) respectively. Surface electromyography (sEMG) was used to measure masseter activity from food ingestion to swallowing of test foods. The raw data was normalized by the ratio of sEMG activity to maximal voluntary contraction and compared among subjects. The data was divided according to each sequence of mastication and then calculated within the parameters of EMG activities. RESULTS: Intraoral tongue pressure was significantly higher in the young than in the elderly (p<0.05). Maximal value of average amplitude of the sequence in whole mastication showed significant positive correlation with hardness of food in both young and elderly groups (p<0.05). In a comparisons between groups, the maximal value of average amplitude of the sequence in whole mastication and peak amplitude in whole mastication showed that mastication in the elderly requires a higher percentage of maximal muscle activity than in the young, even with soft foods (p<0.05). CONCLUSION: sEMG data of the masseter can provide valuable information to aid in the selection of foods according to hardness for the elderly. The results also support the necessity of specialized food preparation or products for the elderly.
Aged* ; Aging ; Deglutition ; Deglutition Disorders ; Eating ; Electromyography ; Foods, Specialized ; Hardness ; Humans ; Masseter Muscle* ; Mastication ; Masticatory Muscles ; Tongue

Background: We aimed to analyze outcomes of clipping and coiling in treating unruptured intracranial aneurysms (UIAs) in elderly patients and to identify the age at which perioperative risk increases based on national cohort data in South Korea. Methods: The incidence of perioperative intracranial hemorrhage (ICRH), perioperative cerebral infarction (CI), mortality, and moderate to severe disability data of the patients who underwent coiling or clipping for UIAs were retrieved. Estimated breakpoint (EBP) was calculated to identify the age at which the risk of treatment increases. Results: A total of 38,207 patients were treated for UIAs. Among these, 22,093 (57.8%) patients underwent coiling and 16,114 (42.2%) patients underwent clipping. The incidence of ICRH, requiring a secondary operation, within 3 months in patients ≥ 65 years that underwent coiling and clipping was 1.13% and 4.81%, respectively, and that of both groups assessed were significantly higher in patients ≥ 75 years (coiling, P = 0.013, relative risk (RR) 1.81; clipping, P = 0.015) than younger patients. The incidence of CI within 3 months in patients aged ≥ 65 was 13.90% and 9.19% in the coiling and clipping groups, respectively. The incidence of CI after coiling in patients aged ≥ 75 years (P < 0.001, RR 1.96) and after clipping in patients aged ≥ 70 years (P < 0.001, RR 1.76) was significantly higher than that in younger patients. The mortality rates within 1 year in patients with perioperative ICRH or CI were 2.41% and 3.39% for coiling and clipping groups, respectively, in patients ≥ 65. These rates increased significantly at age 70 in the coiling group and at age 75 for the clipping group (P = 0.012 and P < 0.001, respectively). Conclusion The risk of treatment increases with age, and this risk increases dramatically in patients aged ≥ 70 years. Therefore, the treatment decisions in patients aged ≥ 70 years should be made with utmost care.

Background: We aimed to analyze outcomes of clipping and coiling in treating unruptured intracranial aneurysms (UIAs) in elderly patients and to identify the age at which perioperative risk increases based on national cohort data in South Korea. Methods: The incidence of perioperative intracranial hemorrhage (ICRH), perioperative cerebral infarction (CI), mortality, and moderate to severe disability data of the patients who underwent coiling or clipping for UIAs were retrieved. Estimated breakpoint (EBP) was calculated to identify the age at which the risk of treatment increases. Results: A total of 38,207 patients were treated for UIAs. Among these, 22,093 (57.8%) patients underwent coiling and 16,114 (42.2%) patients underwent clipping. The incidence of ICRH, requiring a secondary operation, within 3 months in patients ≥ 65 years that underwent coiling and clipping was 1.13% and 4.81%, respectively, and that of both groups assessed were significantly higher in patients ≥ 75 years (coiling, P = 0.013, relative risk (RR) 1.81; clipping, P = 0.015) than younger patients. The incidence of CI within 3 months in patients aged ≥ 65 was 13.90% and 9.19% in the coiling and clipping groups, respectively. The incidence of CI after coiling in patients aged ≥ 75 years (P < 0.001, RR 1.96) and after clipping in patients aged ≥ 70 years (P < 0.001, RR 1.76) was significantly higher than that in younger patients. The mortality rates within 1 year in patients with perioperative ICRH or CI were 2.41% and 3.39% for coiling and clipping groups, respectively, in patients ≥ 65. These rates increased significantly at age 70 in the coiling group and at age 75 for the clipping group (P = 0.012 and P < 0.001, respectively). Conclusion The risk of treatment increases with age, and this risk increases dramatically in patients aged ≥ 70 years. Therefore, the treatment decisions in patients aged ≥ 70 years should be made with utmost care.