No abstract available.
Tonsillectomy*

Refractory deformity in ankylosing spondylitis is caused by loss of normal lordotic curvature in lumbar spine. For the correction of deformity, monosegmental osteotomy, intracorporal decancellation and multisegmental osteotomy are used. Among them, multisegmental osteotomy is reported to be safe because of its small correction amount at each level. Since 1989, authors treated 5 cases of ankylosing spondylitis with severe kyphotic deformity by multisegmental osteotomy and transpedicular instrumentation. All were young males between 22 and 35 years of age. Preoperative kyphotic deformity was 80°, 105°, 72°, 35°, 55° (Av. 70°) and amount of correction was 55°, 105°, 72°, 20°, 40° (Av. 58°) respectively. Levels for osteotony were 4 to 8 segments and correction at a level was 5° to 13° (Av. 8.3°). Normal standing upright posture and vision for straight forward were obtained in all. Instrumentation was Zielke in three Cotrel-Dubousset in two. One case of Zielke instrumentation showed rod failure. However, all showed solid bony union without any loss of correction or pseudoarthrosis. From the above experience, multisegmental osteotomy for the treatment of kyphotic deformity in ankylosing spondylitis was believed to be a safe and effective method of treatment.
Congenital Abnormalities ; Humans ; Male ; Methods ; Osteotomy ; Posture ; Pseudarthrosis ; Spine ; Spondylitis, Ankylosing

The closed reduction has made an important contribution to the treatment of children under the age of 24 months. The authors report a clinical experience of 20 patients(21 hips) with congenital dislocation of hip who were treated by closed reduction at the department of Orthopaedic Surgery of Chonnam University Hospital. There were total 230 patients(237 hips) disgnosed as having congenital dislocated hip for 10 years from 1978 to 1987 and 20 patients of them were included in this study. The follow-up period ranged from 1 year to 10 years with an average 3 years. The results are as follows: l. All but one were girls, comprising 19 (20 hips) of 20 patients. 2. The age at closed reduction were under 6 months in 2, 7 to 12 months in 4, 13 to 18 months in 10 and 19 to 24 months in 4. 3. Of the 21 hips treated by closed reduction, 17 hips achieved a satisfactory result(81%). The other four hips had redislocation(2 hips) and subluxation(2 hips). 4. Four additional treatments were open reduction in 3 and Salter innominate osteotomy in l. 5. The acetabular and center-edge angle improved from the averge 36.1 and
Acetabulum ; Child ; Dislocations ; Female ; Follow-Up Studies ; Hip ; Humans ; Jeollanam-do ; Joints ; Methods ; Necrosis ; Osteotomy

Rare diseases, even though defined as fewer than 20,000 in South Korea, with over 8,000 rare Mendelian disorders having been identified, they collectively impact 6-8% of the global population. Many of the rare diseases pose significant challenges to patients, patients’ families, and the healthcare system. The diagnostic journey for rare disease patients is often lengthy and arduous, hampered by the genetic diversity and phenotypic complexity of these conditions. With the advent of nextgeneration sequencing technology and clinical implementation of exome sequencing (ES) and genome sequencing (GS), the diagnostic rate for rare diseases is 25-50% depending on the disease category. It is also allowing more rapid new gene-disease association discovery and equipping us to practice precision medicine by offering tailored medical management plans, early intervention, family planning options. However, a substantial number of patients remain undiagnosed, and it could be due to several factors. Some may not have genetic disorders. Some may have disease-causing variants that are not detectable or interpretable by ES and GS. It's also possible that some patient might have a disease-causing variant in a gene that hasn't yet been linked to a disease. For patients who remain undiagnosed, reanalysis of existing data has shown promises in providing new molecular diagnoses achieved by new gene-disease associations, new variant discovery, and variant reclassification, leading to a 5-10% increase in the diagnostic rate. More advanced approach such as long-read sequencing, transcriptome sequencing and integration of multi-omics data may provide potential values in uncovering elusive genetic causes.

OBJECTIVES: This study was to evaluate the impacts of simultaneous exposure to noise and mixed solvents on workers'hearing threshold level (HTL) over five-year period. METHODS: The study was conducted by interview and annual audiometric test on workers in ship building industry from 1994 to 1998. The cases(workers who exposed to noise and mixed solvent simultaneously) were 43 male workers and controls (workers who exposed to nolle) were selected by matching method with regard to age, sex, carrier, and noise exposure level. To assess the impacts of solvent exposure on hearing threshold level, with considering other factors, general liner model was used. RESULTS: 1. The audiogram of all subjects showed typical sensorineural hearing loss pattern. The mean HTLe were increased at high frequency (4000HB and 8000Hz) for study period. 2. The HTLs of cases were more increased than those of controls at high frequencies (4000Hz and 8000Hz), but there was not statlstical significance. 3. The impact of age on the HTL was statistically significant at 250Hz and 500Hz (p(0.05), and the impact of noise on the HTL was statistically significant at 250Hz, 2000Hz and 4000Hz (p(0.05), but the impact solvent exposure on the HTL was not significant. 4. The changes in HTLs of cases were higher than those of controls at high frequency, there were not statistical significance at 4000Hz, but only at 8000Hz (p=0.087). 5. Statistical analysis of the general linear model implicated that the changes in HTL was impacted by noise exposure bevel significantly (p=0.031) and Impacted by solvent exposure weakly (p=0.087) at 8000Hz. CONCLUSIONS: The results of this study suggest that workers who simultaneously exposed to noise and mixed solvent were at risk for more affected HTL than those exposed to noise exposure only, but we could not find definitive evidence. Further detailed studies must be made in large number of workers.
Construction Industry ; Hearing Loss* ; Hearing Loss, Sensorineural ; Hearing* ; Humans ; Linear Models ; Male ; Noise ; Ships ; Solvents

BACKGROUND: Tramadol, an opioid n receptor agonist and monoaminergic reuptake inhibitor, has been studied as an adjunct to general and regional anesthesia. Tramadol has been added to local anesthetic regimens for various peripheral nerve blocks, resulting in prolonged anesthesia and analgesia. The purpose of this study was to evaluate the effectiveness of using tramadol as a component of intravenous regional anesthesia (IVRA) to enhance postoperative analgesia. METHODS: Thirty-six patients undergoing hand surgery received IVRA with mepivacaine 0.5%, and were assigned randomly and blindly to one of the following groups: Group I (n = 12) received only 0.5% mepivacaine 40 ml, Group II (n = 12) was given 0.5% mepivacaine 40 ml and 50 mg tramadol, and Group III (n = 12) received 0.5% mepivacaine 40 ml and 100 mg tramadol. After the completion of the operations, analgesic effects were evaluated by using the visual analogue scale (0 - 10). Sedation scores (0 - 3), supplemental analgesic use, and side effects were also evaluated. RESULTS: Patients who received IVRA with 100 mg tramadol reported a significantly lower pain score after tourniquet deflation compared with other groups, and a decreased need for analgesics in the postanesthesia care unit. No significant postoperative sedation, nausea, vomiting, or headache developed in any of the patients. CONCLUSIONS: The addition of 100 mg tramadol to 0.5% mepivacaine for IVRA provided improved analgesia in the postanesthesia care unit after the operation and decreased the need for analgesic supplements after the operation.
Analgesia ; Analgesics ; Anesthesia and Analgesia ; Anesthesia, Conduction* ; Hand ; Headache ; Humans ; Mepivacaine* ; Nausea ; Peripheral Nerves ; Tourniquets ; Tramadol* ; Vomiting

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems.Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF-1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT ). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

BACKGROUND: For the early detection and prevention of diabetic neuropathy, it is important to identify subclinical diabetic neuropathies. A routine nerve conduction study often fails to detect the early stages of neuropathy. The purpose of this study is to evaluate the clinical usefulness of electrophysiological indexes including the residual latency(RL), terminal latency index (TLI) and modified F ratio (MFR) in detecting early diabetic neuropathy with no objective clinical or electrophysiological abnormalities. METHODS: A nerve conduction study of the upper/lower limbs was investigated in 38 subclinical diabetic neuropathy patients with normal nerve conduction studies (group I), 35 clinical diabetic neuropathy patients with normal nerve conduction studies (group II) and 31 normal controls. RL, TLI and MFR were calculated and compared among the groups. RESULTS: Compared with the control group, the MFR of the lower limbs and TLI of both the upper/lower limbs were significantly decreased in both group I and II (p<0.05). RL was increased in both groups, but the difference was not statistically significant. Comparing the indexes between group I and II, there was no significant difference. CONCLUSIONS: RL, TLI and MFR are useful indexes for reflecting distal conduction slowing especially in slowly progressing polyneuropathies such as diabetic neuropathy. The results also suggest that electrophysiological changes veiled in a routine nerve conduction study were present before the clinical manifestations.
Diabetic Neuropathies* ; Extremities ; Humans ; Lower Extremity ; Neural Conduction* ; Polyneuropathies

Ehlers-Danlos syndrome (EDS) VIII is an autosomal dominant inherited connective tissue disorder characterized by intractable periodontal inflammation, absence of gingiva, pretibial plaques, skin hyperextensibility, joint hypermobility, and tissue fragility with onset in the childhood or adolescence. In a recent report, heterozygous variants of the C1R or C1S related to the classical complement pathway were identified in families with history of EDS VIII. The current report describes a Korean 34-year-old female carrying a novel missense variant of C1R c.925T>G (p.Cys309Gly) and exhibiting early severe periodontitis, skin fragility, and joint hypermobility. The patient also had frontal, parietal, and temporal white matter brain lesions without definite vascular abnormalities on brain magnetic resonance imaging, which have not been surveyed meticulously in EDS VIII. Considering the genetic alteration of classic complement pathways in this condition, it is necessary to carefully observe multisystemic inflammation processes such as changes in brain white matter.
Adolescent ; Adult ; Brain ; Complement C1r ; Complement Pathway, Classical ; Complement System Proteins ; Connective Tissue ; Ehlers-Danlos Syndrome ; Female ; Gingiva ; Humans ; Inflammation ; Joint Instability ; Magnetic Resonance Imaging ; Periodontitis ; Rabeprazole ; Skin ; White Matter

Noonan syndrome (NS) is an autosomal dominant disorder that involves multiple organ systems, with short stature as the most common presentation (>70%). Possible mechanisms of short stature in NS include growth hormone (GH) deficiency, neurosecretory dysfunction, and GH resistance. Accordingly, GH therapy has been carried out for NS patients over the last three decades, and multiple studies have reported acceleration of growth velocity (GV) and increase of height standard deviation score (SDS) in both prepubertal and pubertal NS patients upon GH therapy. One year of GH therapy resulted in almost doubling of GV compared with baseline; afterwards, the increase in GV gradually decreased in the following years, showing that the effect of GH therapy wanes over time. After four years of GH therapy, ~70% of NS patients reached normal height considering their age and sex. Early initiation, long duration of GH therapy, and higher height SDS at the onset of puberty were associated with improved final height, whereas gender, dosage of GH, and the clinical severity did not show significant association with final height. Studies have reported no significant adverse events of GH therapy regarding progression of hypertrophic cardiomyopathy, alteration of metabolism, and tumor development. Therefore, GH therapy is effective for improving height and GV of NS patients; nevertheless, concerns on possible malignancy remains, which necessitates continuous monitoring of NS patients receiving GH therapy.
Acceleration ; Adolescent ; Cardiomyopathy, Hypertrophic ; Growth Hormone* ; Humans ; Metabolism ; Noonan Syndrome* ; Puberty