Maternally inherited diabetes and deafness (MIDD) is a rare mitochondrial disorder primarily resulting from m.3243A>G mutation. The clinical characteristics of MIDD exhibit significant heterogeneity. Our study aims to delineate these characteristics and determine the potential correlation with m.3243A>G heteroplasmy levels. This retrospective, descriptive study encompassed patients with confirmed m.3243A>G mutation and diabetes mellitus at Seoul National University Hospital. Our cohort comprises 40 patients with MIDD, with a mean age at study enrollment of 33.3±12.9 years and an average % of heteroplasmy of 30.0%± 14.6% in the peripheral blood. The most prevalent comorbidity was hearing loss (90%), followed by albuminuria (61%), seizure (38%), and stroke (33%). We observed a significant negative correlation between % of heteroplasmy and age at diabetes diagnosis. These clinical features can aid in the suspicion of MIDD and further consideration of genetic testing for m.3243A>G mutation.

The name "Sung Min Kim" should be "Seong Min Kim" and "Yoon Mi Kim" should be "Yun Mi Kim".

A 40-year-old woman was referred to our hospital because of bitemporal hemianopsia at 23 weeks of gestation. A brain magnetic resonance imaging showed a pituitary tumor having suprasellar extension. At 30 weeks of gestation, she complained of rapidly deteriorating vision and bitemporal hemianopsia in both eyes and the ensuing radiological examination revealed increased tumor size, displaced tumor location and compressed optic chiasm. The cesarean section was performed at 31 weeks and 3 days of gestation and simultaneous surgical removal of pituitary tumor was carried out due to the risk of irreversible blindness. Anesthetic management for combined cesarean section and brain surgery can be more complex and challenging for anesthesiologists, and the aim was to achieve both the control of intracranial pressure and fetal well being at the same time. In this case, maternal outcome was somewhat improved after the procedure, and neonatal complications were not detected.
Adult ; Blindness ; Brain ; Cesarean Section ; Eye ; Female ; Hemianopsia ; Humans ; Intracranial Pressure ; Magnetic Resonance Imaging ; Optic Chiasm ; Pituitary Neoplasms ; Pregnancy ; Vision, Ocular

BACKGROUND: This study was performed to determine the effects of a humidifier with heated wire circuits on the incidence and severity of postoperative sore throat (POST) and cough after thyroidectomy. METHODS: A total of 61 patients scheduled for elective thyroid surgery under general anesthesia were included in this prospective study. We randomized the patients in to two groups, "without active warming and humidification" (Group C) and "using a heated humidifier" (Group H). The patients were interviewed to obtain the POST and cough scores at 1, 6, 24 and 48 hours after thyroidectomy. RESULTS: The incidence of POST was significantly lower in Group H compared to Group C at 6 hours (57% vs 84%, P = 0.041), 24 hours (37% vs 65%, P = 0.045), and 48 hours (10% vs 52%, P = 0.001). Also the incidence of cough was significantly lower in Group H at 6 hours (27% vs 71%, P = 0.001), 24 hours (13% vs 45%, P = 0.015), and 48 hours (7% vs 32%, P = 0.028). The severity of POST was significantly lower in Group H at all times. In addition, the severity of cough was lower in Group H at other times except at 1 hour. CONCLUSIONS: This result suggests that an active humidification of inspired gases may have the appreciable effect on reducing the incidence and severity of sore throat and cough after thyroid surgery using the endotracheal tube.
Anesthesia, General ; Cough ; Gases ; Hot Temperature ; Humans ; Incidence ; Intubation, Intratracheal ; Pharyngitis ; Prospective Studies ; Thyroid Gland ; Thyroidectomy

BACKGROUND: The utilization of botulinum toxin has rapidly expanded into various aesthetic applications. Achieving success with the aesthetic use of neurotoxins depends on several factors, including an understanding of the anatomy, the methods of dilution and the injection technique. Any guidelines representing a consensus for aesthetic treatments using botulinum toxin type A (BTA) have not been published in Korea. OBJECTIVE: We wanted to provide consensus recommendations on the treatment of facial wrinkles and benign masseter hypertrophy using BTA in Korean patients. METHODS: A panel of experienced Korean dermatologists was convened to develop a clinical consensus. The clinical consensus was comprised of the recommendations of the panel and the guidelines on general issues, such as the reconstitution and handling of the BTA, the procedural considerations, the dosing and injection-site standardizations, and the prevention and treatment of unwanted effects. Specific recommendations were provided according to the area of treatment, including glabellar lines, horizontal forehead lines, lateral periorbital wrinkles and benign masseter hypertrophy. RESULTS: The recommended final concentration of BTA was 50 units/ml (5 units/0.1 ml) after reconstitution with physiologic saline. For glabellar lines, the members recommend three injection points (a total of 8 units). For forehead wrinkles, the members recommend nine injections in two rows into the frontalis with 1 unit/point. For crow's feet, the members recommend three injections per side (7 units/side) at the lateral part of the orbicularis oculi. For benign masseter hypertrophy, three injections per side (24~30 units/side) were recommended. CONCLUSION: These consensus recommendations will provide a framework for Korean dermatologists who wish to perform safe and efficacious injection of BTA for facial rejuvenation.
Botulinum Toxins ; Botulinum Toxins, Type A ; Consensus ; Foot ; Forehead ; Handling (Psychology) ; Humans ; Hypertrophy ; Korea ; Neurotoxins ; Rejuvenation

PURPOSE: To analyze and compare the clinical and radiologic results of treatments in unstable intertrochanteric fractures of the femur with proximal femoral nail antirotation (PFNA) and compression hip screw with trochanter stabilizing plate (CHS with TSP). MATERIALS AND METHODS: We retrospectively reviewed the results of 66 cases of unstable intertrochanteric fractures of the femur treated with PFNA (Group I) and CHS with TSP (Group II) which could be followed up for minimum a year. We evaluated several comparative factors such as operation time, blood loss, time to bone union, changes in neck-shaft angle, sliding of screw (or blade), complications, postoperative pain, social-function score of Jensen, and mobility score of Parker and Palmer. RESULTS: Group I showed shorter operation time and less blood loss with significance than group II (p<0.05), but there were no differences between the groups in the mean time to bone union, changes in neck-shaft angle, sliding of screw (or blade), complications, postoperative pain, and social-function score of Jensen (p>0.05). Two cases of cutting out of the blade through the femoral head were found in group I. One case of cutting out of the screw, one case of the breakage of the plate, and loosening of the plate were found in group II as complications. CONCLUSION: We think that there were no significant differences between PFNA and CHS with TSP in view point of radiologic and clinical outcomes in unstable intertrochanteric fractures of the femur, but PFNA is less invasive device than CHS with TSP, therefore it may be useful device in elderly patients.
Aged ; Femur ; Head ; Hip ; Hip Fractures ; Humans ; Nails ; Postoperative Complications ; Retrospective Studies

The shortage of organ donors has stimulated interest in the possibility of using animal organs for transplantation into humans. In addition, pigs are now considered to be the most likely source animals for human xenotransplantation because of their advantages over non-human primates. However, the appropriate standard values for estimations of the liver of micropigs have not been established. The determination of standard values for the micropig liver using multi-detector row computed tomography (MDCT) would help to select a suitable donor for an individual patient, determine the condition of the liver of the micropigs and help predict patient prognosis. Therefore, we determined the standard values for the livers of micropigs using MDCT. The liver parenchyma showed homogenous enhancement and had no space-occupying lesions. The total and right lobe volumes of the liver were 698.57 +/- 47.81 ml and 420.14 +/- 26.70 ml, which are 51.74% and 49.35% of the human liver volume, respectively. In micropigs, the percentage of liver volume to body weight was approximately 2.05%. The diameters of the common hepatic artery and proper hepatic artery were 6.24 +/- 0.20 mm and 4.68 +/- 0.13 mm, respectively. The hepatic vascular system of the micropigs was similar to that of humans, except for the variation in the length of the proper hepatic artery. In addition, the diameter of the portal vein was 11.27 +/- 0.38 mm. In conclusion, imaging evaluation using the MDCT was a reliable method for liver evaluation and its vascular anatomy for xenotransplantation using micropigs.
Animals ; Female ; Hepatic Artery/anatomy & histology ; Humans ; Imaging, Three-Dimensional/methods/*veterinary ; Liver/*anatomy & histology/blood supply ; Liver Transplantation/*methods ; Living Donors ; Male ; Portal Vein/anatomy & histology ; Swine ; Swine, Miniature/*anatomy & histology ; Tomography, X-Ray Computed/methods/*veterinary ; Transplantation, Heterologous/*methods

Lupus is a systemic autoimmune disease of an unknown origin, and systemic lupus erythematosus (SLE) can be triggered by numerous stimuli. Bee venom therapy is an alternative therapy that is believed to be effective for various kinds of arthritis. We present here a case of a 49-year-old female who experienced a new onset lupus after undergoing bee venom therapy, and this looked like a case of angioedema. The patient was successfully treated with high dose steroids and antimalarial drugs. We discuss the possibility of bee venom contributing to the development of SLE, and we suggest that such treatment should be avoided in patients with lupus.
Bee Venoms/*adverse effects ; Female ; Humans ; Lupus Erythematosus, Systemic/*etiology/pathology ; Middle Aged

A nevus which is a benign melanocytic neoplasm rarely occurs within the external auditory canal (EAC). A dysplastic nevus presents atypical features both clinically and histologically, and is important as a potential precursor for melanoma. We present a case of a 33-year-old female patient with a dysplastic nevus in her EAC. Physical examination revealed a protruding mass arising from the posterior wall of the left cartilaginous EAC. The mass showed clinically characteristic findings of a melanocytic nevus. The patient underwent excisional biopsy via a transcanal approach under local anesthesia. Histopathological examination revealed an intradermal nevus with atypical melanocytes without pleomorphism. There was no evidence of recurrence two years after surgical excision.
Adult ; Dysplastic Nevus Syndrome/*diagnosis/*pathology/surgery ; Ear Canal/*pathology/surgery ; Female ; Hearing Loss, Conductive/*etiology/surgery ; Humans ; Treatment Outcome

BACKGROUND: Patients suffering with pectus carinatum complain of cosmetic problems when they stand and this in spite of wearing cloths. The standard surgical treatment of pectus carinatum is resection of the deformed cartilages, but the wide operative scar, post-operative pain and complications related with such an operation can occur. Therefore, we have performed compressive brace therapy as a non-operative treatment for pectus carinatum and we observed the effects and the efficiency of this treatment. MATERIAL AND METHOD: From January, 2001 to December, 2006, 109 patients wore the compressive brace for all day. The degree of satisfaction was evaluated after 6~9 months of wearing the compressive brace. The degree of satisfaction was evaluated by a score of from 1~4. A score of 1 was assigned when the status was worse, 2 when it was the same, 3 when there was partial improvement and 4 when remarkable improvement was observed. The degree of satisfaction was assessed subjectively by the parent if the patient was a child younger than middle school age, and the patients older than middle school age assessed the score themselves. RESULT: The mean score of the overall degree of satisfaction was 3.93+/-0.33. Recurrence of pectus carinatum after removal of compressive brace occurred in 6 patients (5.5%) of the total 109 patients. But 4 patients of the total 6 recurred patients stopped wearing of compressive brace against our advice. The 6 recurred patients were re-corrected by re-wearing the compressive brace within 3 months after they originally removed the compressive brace. The complications were discomfort with initially wearing the compressive brace, which occurred in all patients, skin rash due to the compressive brace for 76 patients (69.7%) and skin discolorization with excessive compression for 16 patients (5.5%). The skin rash and discolorization returned to normal within a few months after removal of the compressive brace. CONCLUSION: This study demonstrated that non-surgical treatment with using the compressive brace for patients with pectus carinatum was effective, and especially for children and teenagers. Non-surgical treatment with using a compressive brace would be helpful for the patients suffering with pectus carinatum and who dislike surgical operations because of their fear about general anesthesia and operation-related complications. Yet long-term follow up is necessary to accurately evaluate the effectiveness of this compressive brace and the recurrences after removal of the compressive brace.
Adolescent ; Anesthesia, General ; Braces* ; Cartilage ; Cartilage Diseases ; Child ; Cicatrix ; Exanthema ; Follow-Up Studies ; Humans ; Parents ; Recurrence ; Skin ; Thoracic Wall