Dominant Optic Atrophy Caused by the c.1334G>A Mutation of the OPA1 Gene

Purpose@#Dominant optic atrophy is one of the most common hereditary optic neuropathies, causing progressive bilateral vision loss that begins early in life. Optic atrophy 1 (OPA1) gene mutation brings about mitochondrial dysfunction, which results in clinical manifestations of dominant optic atrophy. Here, we report a case of dominant optic atrophy caused by the c.1334G>A mutation of the OPA1 gene, the first known case in Korea to our knowledge.Case summary: A 12-year-old female patient with no specific medical history or systemic symptoms visited our clinic complaining of a progressive decrease in vision in either eye. Slit-lamp microscopy, intraocular pressure, ocular motility, and pupil reflex were normal. However, her best-corrected visual acuity in both eyes was 20/100, and her color vision was reduced to 8/12 in Ishihara’s test. Fundus examination showed temporal pallor of the optic nerve head in both eyes, and a corresponding cecocentral scotoma was observed on Goldmann visual field examination. Optical coherence tomography revealed significant thinning of the peripapillary retinal fiber layer and macular ganglion cell layer in both eyes. Genetic examination confirmed the c.1334G>A mutation of the OPA1 gene. @*Conclusions@#We report a case of dominant optic nerve atrophy caused by c.1334G>A mutation of the OPA1 gene and its clinical manifestations.

Short-term Changes in Ocular Surface pH after 23-gauge Microincision Vitrectomy Surgery

Purpose@#This study aimed to investigate changes in ocular surface pH after 23-gauge microincision vitrectomy surgery. @*Methods@#This retrospective study included 42 patients who underwent 23-gauge microincision vitrectomy. Best-corrected visual acuity and intraocular pressure were measured. Fundus examination, color fundus photography, and spectral-domain optical coherence tomography were performed. Chemosis was evaluated once a day after surgery, and the ocular surface pH was measured using a microelectrode on the day before surgery and every day up to day 5 after surgery. @*Results@#A total of 42 eyes in 42 patients were examined. The average age was 63.7 years. The indications for surgery included epiretinal membrane in 14 eyes (33.3%), vitreous hemorrhage in 11 eyes (26.2%), macular hole in 11 eyes (26.2%), and rhegmatogenous retinal detachment in six eyes (14.3%). Although the mean ocular surface pH increased from 7.12 ± 0.04 to 7.55 ± 0.04 on the first day after surgery (p < 0.001), it gradually decreased to 7.41 ± 0.03 from the second day postoperatively (p < 0.001). It was subsequently measured as 7.33 ± 0.04 on the third day (p < 0.001) and 7.23 ± 0.03 on the fourth day (p < 0.001) postoperatively. On the fifth postoperative day, the ocular surface pH further decreased to 7.15 ± 0.03 (p = 0.152) and recovered to the preoperative state. A statistically significant correlation was found between the change in ocular surface pH and the chemosis grade (p = 0.001). @*Conclusions@#After 23-gauge microincision vitrectomy surgery, the ocular surface pH shifted temporarily in the alkaline direction within a physiological range correlated with chemosis and intravitreal tamponade usage.

Severe Upper and Lower Tarsal Ectropion with Immunoglobulin G4-related Ophthalmic Disease

Purpose@#To present the first case of severe upper and lower tarsal ectropion associated with immunoglobulin G4 (IgG4)-relatedophthalmic disease.Case summary: A 37-year-old male presented with relapsed eyelid swelling and periocular inflammation in the left eye for7 years. He had severe upper and lower tarsal ectropion and a thickened upper eyelid with prolapsed conjunctival fornix. Orbitalcomputed tomography showed a poorly defined anterior orbital mass involving the lacrimal gland and upper and lower eyelids onthe left eye. The severe upper and lower eyelid ectropion was corrected by a modified spindle procedure and lateral tarsal strip.Hard, ill-defined fibrotic tissue and a mass around the lateral upper tarsal plate were discovered that required excision of themass and a biopsy. Hematologic and histopathologic findings of the orbital mass indicated IgG4-related ophthalmic disease withsevere upper and lower ectropion caused by the disease. @*Conclusions@#In cases of severe upper and lower eyelid ectropion caused by chronic inflammation, as seen in this case, not onlyeyelid tightening with excision of the causative mass but also a modified spindle procedure is required to prevent rotation of theeyelid.

Effect of Botulinum Toxin A on Trismus after Traumatic Brain Injury: A case report

We report a case of severe trismus following traumatic brain injury (TBI), which was treated successfully with botulinum toxin A. Its effect evidenced long-term resolution, for over one year. A 36 year-old man with a multifocal intracranial hemorrhage was admitted for quadriplegia with dysphagia and trismus. During ten months, a nasogastric tube was placed for feeding after TBI, and at that time his upper- to-lower interincisal distance was only 1.2 cm upon voluntary mouth opening. Botulinum toxin A 450 U (Dysport(R)) was injected into both masseter, medial pterygoid and left temporalis muscles under electromyographic guidance. The interincisal distance began to improve one week after injection. He successfully underwent percutaneous endoscopic gastrostomy, dysphagia rehabilitation therapy, and dental prosthesis. More than one month after injection, oral feeding proved possible. After 1 year his interincisal distance was maintained at 2.9 cm.

A Case of Developmental Delay with Canavan's Disease: A case report

Canavan's disease is a hereditary disease that causes development delay by demyelinization of white matter in brain. The cardinal symptoms of Canavan's disease are head-lag, macrocephaly, developmental delay, blindness, epilepsy and hypotonia. Seven-month old baby delivered by Caesarean section at gestational age 40 weeks was complaining of an inability to keep head up. In past history, he was treated for congenital nystagmus. Chromosomal study was normal. Brain MRI showed delay of myelination of 5 months old. During neurodevelopment treatment in our hospital about development delay, macrocephaly was observed with head circumference 46 cm (90~97 percentile). He couldn't control his head yet. Brain MRI was done when he was 12-month old. There was no myelination in whole brain compared with that of same age group. The peak elevation of N-acetylaspartic acid (NAA) was showed in magnetic resonance spectroscopy (MRS). NAA was detected as high as 29.7 mmol/molCr, we diagnosed him as Canavan's disease. So we reported this case with a brief review of related literatures.

Usefulness of Digital Infrared Thermal Imaging in Evaluating the Efficacy of Epidural Block among the Patients with Lumbar Radiculopathy

OBJECTIVE: To assess the clinical value of digital infrared thermal imaging (DITI) as an indicator for successful lumbar epidural block in patients with lumbar radiculopathy. METHOD: Ten patients having lumbar radiculopathy with low back pain and unilateral radicular leg pain participated in this study. The DITI was taken before and 20 minutes after lumbar epidural block. Visual analog scale (VAS) and straight leg raising (SLR) test were done before taking DITI. Temperatures were measured over 39 sectors of both lower extremities. Temperature differences of the affected and the sound side were compared between before and after lumbar epidural block. Correlation between the temperature differences and two variables, the VAS and SLR were assessed. RESULTS: There were the relative increase of temperature in DITI after lumbar epidural block, especially in posterior part of sector 7, posterior upper lateral thigh, sector 8, posterior upper middle thigh, sector 14, medial popliteal area, sector 15, posterior upper lateral calf, and sector 18, posterior middle medial calf. In posterior 15(th) sectors, the relative increase of temperature had a positive correlation with improvement of VAS score, and in 18(th) sector, it is positively correlated with improvement of SLR. CONCLUSION: It seems that the relative increase of temperature differences after lumbar epidural block is positively correlated with improvement of VAS and SLR in specific sectors, posterior 15(th) and 18(th) each. DITI may be useful as an objective indicator of successful lumbar epidural block.

Comparison of initial implant stability measured by Resonance Frequency Analysis between different implant systems / 대한치주과학회지

PURPOSE: The objective of this study was to compare initial implant stability measured by RFA between different implant systems during the initial healing period. MATERIAL AND METHODS: Fifty-four patients (36 males/18 females) who had been treated at the Department of Periodontology, Chonbuk National University Dental Hospital during the period between January and November in 2007 were included in the study. The mean age of the subjects was 49 years old (18 to 77). A total of 104 implants (Type A: 3i Osseotite(R) , Type B: Replace(R) select, Type C: ITI implant) were placed following the manufacturer's standard surgical protocols. Implant stability quotient (ISQ) readings were obtained for each implant at the time of surgery, 2-, and 4-month postoperatively. RESULT: No implant was failed during the observation period. At the baseline, the difference between mean ISQ values of 3 implant systems was statistically significant (p<0.05). However, at 2-, and 4-month following implant surgery, no significant difference was observed between ISQ values of the implant systems. In the same implant, the ISQ values of Type B and C implants increased (p<0.05), but those of Type A implants decreased during the 2-month healing period. The mean ISQ values of Type B and C implants showed a increasing tendency, while those of Type A implants were stable for the 4-month follow-up period. CONCLUSION: Within limits of this study, it can be concluded that implant design and surface topography of implant might influence the ISQ value and changing pattern during the initial healing period.

Analysis on cause of failure of guided bone regeneration during implant placement: A retrospective study / 대한치주과학회지

PURPOSE: The aim of this retrospective study is to evaluate survival rate of implant and bone formation, to analyze failure contribution factor. MATERIAL AND METHODS: A total of 52 consecutive patients(35 male, 17 female, mean age 49 years) with 104 osseous defects were treated during the period from October 2004 to June 2007 with a simultaneous or staged GBR approach using non-resorbable or resorbable membranes combined with autogenous bone grafts or xenograft(Bio-Oss, Bio-cera, BBP). RESULT: A total of 32(30.8%) of 104 GBR-treated sites failed the bone formation and a total of 5(5.6%) of 89 implants were removed. Early exposure of the membrane has significantly affected bone formation(p<0.05). Non-resorbable membrane showed more exposure of the membrane and low success rate of bone formation than resorbable membrane(p<0.05). There were no difference between success rate of bone formation and using autogenous bone or graft materials. There were no statistically significant difference between success rate of bone formation and smoking or using PRP. Mandible showed more success rate of bone formation than maxilla(p<0.05). CONCLUSION: Early exposure of the membrane, membrane type and maxilla/mandible type have influence on success rate of bone formation during GBR.

Detection of Escherichia coli O157:H7 from Stool by Polymerase Chain Reaction / 감염

BACKGROUND: Since a recent large outbreak of E. coli O157:H7 infection in Japan, the surveillance for this infection has been performed by the Ministry of Health and Welfare, Korea. Some of hospital laboratories have tried to isolate E. coli O157:H7 from stools on routine culture base. However, E. coli O157: H7 infections was not confirmed in Korea until this time. E. coli O157 can be detected on sorbitol-MacConkey agar (SMAC), which is used as the primary inoculation media for the stool. However, this method is not sensitive for the detection of E. coli O157 from stool. In this study, polymerase chain reaction (PCR) was performed for the detection of E. coli O157. METHODS: Stool was inoculated in LB broth with vancomycin and incubated overnight. One milliliter of this culture broth was centrifuged and the pellet was resuspended with one milliliter of distilled water. After boiling for 15 minutes, five microliters of supernatant was used as a DNA template. The primers for multiplex PCR were stx1F, stx1R, stx2F, and stx2R as designed by Paton, et al. (J Clin Microbiol 36:598, 1998). The stool showing positive PCR was diluted with normal saline and inoculated on SMAC, and the colorless colonies were picked up. Agglutination tests of colonies, which were probably E. coli on the basis of the pink colony on MacConkey agar, were performed with O157 and H7 antisera. RESULTS: A positive PCR was observed in a seven year old boy, who visited the emergency room of the Children's Hospital at Seoul National University on October 13, 1998 complaining of a high fever and abdominal pain. Colorless colonies were observed on SMAC at a ratio of 1:200. Nine of the 12 colorless colonies exhibited a colonial appearance of E. coli on MacConkey agar, and six were agglutinated with O157 and H7 antisera. The titers of stx1 and stx2 by VTEC-RPLA test were >1:256 and 1:128, respectively. CONCLUSION: E. coli O157:H7 could be detected by multiplex PCR, but not by the direct inoculation of stool on SMAC because this bacteria existed in the very small numbers in the stool. Therefore, E. coli O157:H7 can be sensitively detected by the selective enrichment culture of the stool and PCR. In addition, the several colorless colonies on SMAC should be tested with O157 antisera.

Detection of Escherichia coli O157:H7 from Stool by Polymerase Chain Reaction / 감염

BACKGROUND: Since a recent large outbreak of E. coli O157:H7 infection in Japan, the surveillance for this infection has been performed by the Ministry of Health and Welfare, Korea. Some of hospital laboratories have tried to isolate E. coli O157:H7 from stools on routine culture base. However, E. coli O157: H7 infections was not confirmed in Korea until this time. E. coli O157 can be detected on sorbitol-MacConkey agar (SMAC), which is used as the primary inoculation media for the stool. However, this method is not sensitive for the detection of E. coli O157 from stool. In this study, polymerase chain reaction (PCR) was performed for the detection of E. coli O157. METHODS: Stool was inoculated in LB broth with vancomycin and incubated overnight. One milliliter of this culture broth was centrifuged and the pellet was resuspended with one milliliter of distilled water. After boiling for 15 minutes, five microliters of supernatant was used as a DNA template. The primers for multiplex PCR were stx1F, stx1R, stx2F, and stx2R as designed by Paton, et al. (J Clin Microbiol 36:598, 1998). The stool showing positive PCR was diluted with normal saline and inoculated on SMAC, and the colorless colonies were picked up. Agglutination tests of colonies, which were probably E. coli on the basis of the pink colony on MacConkey agar, were performed with O157 and H7 antisera. RESULTS: A positive PCR was observed in a seven year old boy, who visited the emergency room of the Children's Hospital at Seoul National University on October 13, 1998 complaining of a high fever and abdominal pain. Colorless colonies were observed on SMAC at a ratio of 1:200. Nine of the 12 colorless colonies exhibited a colonial appearance of E. coli on MacConkey agar, and six were agglutinated with O157 and H7 antisera. The titers of stx1 and stx2 by VTEC-RPLA test were >1:256 and 1:128, respectively. CONCLUSION: E. coli O157:H7 could be detected by multiplex PCR, but not by the direct inoculation of stool on SMAC because this bacteria existed in the very small numbers in the stool. Therefore, E. coli O157:H7 can be sensitively detected by the selective enrichment culture of the stool and PCR. In addition, the several colorless colonies on SMAC should be tested with O157 antisera.