No abstract available.
Spinal Muscular Atrophies of Childhood*

No abstract available.
Spinal Muscular Atrophies of Childhood*

No abstract available.
Humans*

No abstract available.
Humans*

No abstract available.
Child* ; Humans

PURPOSE: Development of reconstruction plastic surgery for burn treatment and application SRNT (skin rehabilitation nursing therapy) have promoted improvement of dysmorphic feature and functional recovery. In case of deeper and extensive burn, however, treatment of burn scar after plastic surgery and SRNT may be unsatisfactory to burn patients. Especially burn patients having dysmorphic feature on exposed area like face suffer from psychological distress like depression, anxiety, guiltyfeeling, feeling of worthlessness, psychicinertia. Rehabili-Medical Makeup have performed congenital patient having hemangioma and vitiligo using covermark, and this is one of three technical effect of specialized skin rehabilitation nurses. Application of Rehabili-Medical Makeup covers burn scar afraid of exposure and resolves psychological distress, which makes burn patients gain confidence in themselves and helps their return to society. METHODS: Subjects of one's study are 10 burn patients that received SRNT from january 2007 to january 2011 and wanted Rehabili-Medical Makeup. We performed Rehabili-Medical Makeup using covermark foundation. practiced stress measuring test (MEDICORE SA-3000P, NIPRO Cocoro Stress Meter(R)) measured satisfaction (skin color, texture, duration, effectiveness and participation in education) using questionnaire. RESULTS: In stress measureing test after Rehabili-Medical Makeup patients maintained physiological balance. Satisfaction questionnaire show that patients are satisfied with every item. CONCLUSION: Rehabili-Medical Makeup resolves psychological distress and helps their return to society, which is final goal of rehabilitation. Hereafter we suggest to apply and expand education for managing patient's burn scar for themselves.
Anxiety ; Burns ; Cicatrix ; Depression ; Hemangioma ; Humans ; Surveys and Questionnaires ; Rehabilitation Nursing ; Skin ; Surgery, Plastic ; Vitiligo

BACKGROUND: Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. OBJECTIVES: We analyzed the presence of mutations of NF1 gene in unrelated 56 Korean NF-1 patients. METHODS: Mutations were detected by polymerase chain reaction, single strand conformational polymorphism analysis and direct DNA sequencing. RESULTS: We found five different kinds of mutations in the NF1 gene from 5 out of 56 unrelated Korean NF1 patients. Sequence analysis revealed a nucleotide substitution at codon 1276 of exon 22 (CGA to TGA, R1276X), 4 by insertion at codon 1270 of exon 22 (3809 ins TGGA), a base pair deletion at codon 1398 of exon 24 (4192 del G), 4 by deletion at codon 1638 of exon 28 (4914 del CTCT), and a base pair substitution at codon 1947 of exon 31 (CGA to TGA, R1947X). All of these mutations resulted in premature termination of the mutant alleles. CONCLUSION: Results showed that common consequences of NF1 mutations are introduction of a premature stop codon, and these mutant genes may encode truncated forms of neurofibromin.
Alleles ; Base Pairing ; Codon ; Codon, Nonsense ; Exons ; Genes, Neurofibromatosis 1* ; Humans ; Neural Crest ; Neurofibromatoses* ; Neurofibromatosis 1* ; Neurofibromin 1 ; Polymerase Chain Reaction ; Sequence Analysis ; Sequence Analysis, DNA

BACKGROUND AND OBJECTIVES: Practical concerns about transradial approach are increasing in consideration of high procedural success rate, low local complications, and patient's convenience. There was no available data about repeated-use of radial artery for coronary procedures. We evaluate the changes of radial arterial diameter and procedural outcomes of repeated transradial procedure. MATERIALS AND METHOD: Of consecutive 1771 transradial coronary procedures, 117 patients received repeated transradial procedures through the same radial artery. Radial arterial diameter, vascular access time and procedural outcomes were evaluated in between the group of first-use and repeated-use of radial artery. RESULTS: Among 117 patients of second transradial coronary procedure in the repeated-use group, 47 patients (41.6%) underwent coronary intervention and 66 patients (58.4%) underwent coronary angiography. The right radial approach was used in 82.9% of the cases. There was no significant difference in radial artery mean diameter between pre-procedure and 1 day after procedure in patients with first-use and repeated-use group. There was no significant change of radial arterial diameter after first-use depending on the SAR (the ratio of sheath outer diameter to radial artery inner diameter). However, after repeated-use of radial artery, there was significant reduction of radial arterial diameter 1 day after procedure in the patients with SAR more than 0.9 (p<0.05). In repeated-use group, the mean radial arterial diameter was 2.63 +/- 0.35mm mm before the procedure and 2.51 +/- 0.29mm during follow-up (136 +/- 123 days) (p<0.05). There was no significant difference of the vascular access time between the first-use and repeated-use procedures (2.9+/-3.1 vs 3.3+/-3.6 minutes, p<0.05). The procedural success and vascular complication rate of repeated-use of radial artery were as similar to those of the first-use, but total occlusion of radial artery was higher in the repeated-use group (2.6% vs 0.7%, p<0.05). CONCLUSION: The diameter of radial artery after transradial procedures was significantly reduced during follow-up and the incidence of asymptomatic radial artery occlusion was more frequent after repeated-use. However, repeated-use of radial artery was feasible in most patients with high procedural success rate and low vascular complications.
Coronary Angiography ; Follow-Up Studies ; Humans ; Incidence ; Radial Artery*

PURPOSE: This study was to investigate the effect of music therapy as intervention on peripheral neuropathic pain and anxiety of gynecologic cancer patients who were undergoing paclitaxel chemotherapy. METHODS: Hospitalized 62 patients were assigned to an experimental group (n=30) and a control group (n=33) in this quasi-experimental study. The experimental group participated in music therapy that includes listening, singing and song writing during 1 hour. The peripheral neuropathic pain, anxiety and depression were examined as pre-intervention evaluation by using pain scale, anxiety scale (20 questions) and depression scale (20 questions) in both groups. There were no further treatments for the control group while the experimental group involved in music therapy. The peripheral neuropathic pain and anxiety were evaluated in both groups as post-intervention evaluation. RESULTS: Outcomes were verified through hypothesis testing. The level of peripheral neuropathic pain and anxiety in the experimental group was decreased, compared to the control group. CONCLUSION: According to the study, music therapy is a beneficial intervention that reduces peripheral neuropathic pain and anxiety in gynecologic cancer patients. These findings are encouraging and suggest that music therapy can be applied as an effective intervention for minimizing chemotherapy related symptoms.
Anxiety ; Depression ; Humans ; Music ; Music Therapy ; Neuralgia ; Paclitaxel ; Singing ; Writing

PURPOSE: This study was conducted to develop the telecommunication guideline that was possible to make the immediate, logical decisions and to evaluate the possibility of the use by verifying it from the specialists' group. METHODS: Telecommunication guideline was designed with selected six symptoms which were pain, dyspnea, nausea/vomiting, diarrhea, fever, and cough based on the results of literature. RESULTS: This study showed that the patients understood well about the contents of the questions, examination, and education. Also, 85% of them fulfilled the guidelines of the adjustment and more of them were satisfied with the results shown to all of them compared to the previous telecommunication. And 95% of them replied that the information from the telecommunication was more useful than any other information sources related to the information of cancer and self management that were used previously. CONCLUSION: The telecommunication was considered to complement the weakness during the time the cancer patients spent at home after the treatments. Also, it was expected to be a role as an immediate and comprehensive method of decision making and a passage for information supply which was considered the specialty of individual patient related to an inquiry of the self management.
Complement System Proteins ; Cough ; Decision Making ; Diarrhea ; Dyspnea ; Fever ; Humans ; Logic ; Lung ; Lung Neoplasms ; Pilot Projects ; Self Care ; Telecommunications