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.

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

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

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

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 analyze the incidence and treatment trends of hemorrhagic stroke (HS), according to HS subtypes, using nationwide data in Korea from January 2008 to December 2016. Methods: : We used data from the national health-claim database provided by the National Health Insurance Service for 2008–2016 using the International Classification of Diseases. The crude incidence and age-standardized incidence of each disease associated with HS, which included intracranial aneurysm (IA), hypertensive intracerebral hemorrhage (ICH), and arteriovenous malformation (AVM), were calculated and additional analysis was conducted according to age and sex. Changes in trends in treatment methods and number of treatments were analyzed for each cerebrovascular disease using the Korean Classification of Diseases procedure codes. Results: : In 2016, the total number of newly diagnosed adult patients with HS was 24169, showing a decrease by 7.0% since 2008; the age-standardized incidence of HS was 46.2 per 100000 person-years. The age-standardized incidence of unruptured IA (UIA) in adults was 71.4 per 100000 person-years—increased by 2.6-fold since 2008—while that of ruptured IA (RIA) was 12.6 per 100000 person-years, which had decreased at a rate of 20.3% since 2008. The number of coil embolization (CE) for UIA increased by 3.4-fold over 9 years and exceeded that of clipping since 2008. With respect to RIA, CE increased by 2.0-fold over 9 years and exceeded that of clipping from 2014. As for spontaneous ICH in adults, the age-standardized incidence was 31.3 per 100000 personyears in 2016—decreased by 34.7% since 2008—and 14.6% of patients diagnosed with ICH were treated in 2016, which was not significantly different from the proportion of patients treated since 2008. The age-standardized incidence of unruptured AVM (UAVM) was 2.0 per 100000 person-year in 2016, while that of ruptured AVM (RAVM) was 2.4 per 100000 person-years in 2016, showing a decreasing rate of 17.2% from 2008. The total number of treated patients with AVM declined since 2014. Conclusion : In Korea, age-related cerebral vascular diseases, such as RIA, ICH, and RAVM, demonstrated a declining trend in agestandardized incidence; meanwhile, UIA and UAVM demonstrated an increased trend in both crude incidence and age-standardized incidence for 9 years. The increase in the elderly population, management of hypertension, and development of diagnostic and endovascular techniques appear to have influenced this trend.

Objective: : To analyze trends in the incidence and treatment of diseases associated with ischemic stroke, namely, cerebral infarction (CI), cerebral arterial stenosis (CASTN), and moyamoya disease (MMD), based on Korean National Health Insurance Service (NHIS) data from 2008 to 2016. Methods: : Data was extracted from the national health-claim database provided by the NHIS for 2008–2016 using International Classification of Diseases codes. The crude and age-standardized incidences of each disease (CI, CASTN without a history of CI, and MMD) were calculated; additional analyses were conducted according to age and sex. Trends in the number of patients undergoing treatment according to treatment method were analyzed for each disease using the Korean Classification of Diseases procedure codes. Results: : In 2016, the total number of adults with newly diagnosed CI was 83939, reflecting a 9.4% decrease from that in 2008. The agestandardized incidence of CI in adults was 153.2 per 100000 person-years in 2016, reflecting a 37.2% decrease from that in 2008, while that of CASTN was 167.3 per 100000 person-years in 2016, reflecting a 73.3% increase from that in 2008. Among treated cases, the number of patients who underwent intra-arterial (IA) treatment, including IA fibrinolysis and mechanical thrombectomy, showed the most prominent increase, increasing at an annual rate of 25.8%. For CASTN, the number of cases treated with carotid artery stenting or balloon angioplasty (CAS) showed the most prominent increase, increasing at a rate of 69.8% over the 9-year period. For MMD, the total number of patients with newly diagnosed MMD and that with adult MMD demonstrated significantly increasing trends, while the number of pediatric patients with newly diagnosed MMD declined by 18.0% over the 9-year period. The age-standardized incidences of pediatric and adult MMD in 2016 were 2.4 and 3.4 per 100000 person-years, respectively. Conclusion : Although the incidence of CI showed a declining trend over a 9-year period, the number and proportion of patients treated for CI increased. Meanwhile, the incidence of CASTN and the number of patients treated for CASTN have demonstrated increasing trends since 2008. On the other hand, the number of patients diagnosed with pediatric MMD decreased, despite no significant change in the incidence. In contrast, the number of patients and the incidence of adult MMD increased. These trends reflect changes in the population structure, gains in the accessibility of imaging examinations, and the development of endovascular techniques.