No abstract available.
Hypopigmentation*

BACKGROUND: The prevalence of metabolic syndrome in Korean is gradually increasing. Metabolic syndrome shows different patterns depending on gender and socioeconomic status. We investigated the differences in incidence of metabolic syndrome according to gender and socioeconomic status using a community cohort of middle-aged Korean. METHODS: The study included 5,544 subjects (2,733 men and 2,811 women) aged 40-69 years without metabolic syndrome, diabetes, or history of cardiovascular disease at baseline. The incidence of metabolic syndrome was estimated according to gender and socioeconomic status, and the association between socioeconomic status and incidence of metabolic syndrome was examined using Cox's proportional hazard regression analysis. RESULTS: The incidence density of metabolic syndrome was 53/1,000 person-years in men and 52/1,000 person-years in women during the mean follow-up period of 6.01 years. After adjusting for common risk factors, the hazard ratios (HRs) for metabolic syndrome for those with high, middle, and elementary school education levels compared to the college graduate or higher group (referent) were 1.07 (95% CI, 0.76-1.51), 1.73 (95% CI, 1.23-2.44), and 1.74 (95% CI, 1.23-2.46) in women, respectively, and compared to the more than 400 (10,000 won) group (referent), the HRs for metabolic syndrome according to income level were 1.56 (95% CI, 1.06-2.29), 1.86 (95% CI, 1.28-2.71), and 2.74 (95% CI, 1.87-4.00) in women, respectively. However, the association between socioeconomic status and incidence of metabolic syndrome was not significant in men. CONCLUSION: The association between incident metabolic syndrome and socioeconomic status was significant in middle-aged Korean women.
Adult ; Cardiovascular Diseases ; Cohort Studies ; Education ; Female ; Follow-Up Studies ; Humans ; Incidence ; Male ; Prevalence ; Risk Factors ; Social Class

BACKGROUND: This study was conducted to analyze the current problems in completing death certificates and to identify the correct method for completing death certificates. METHODS: We reviewed 262 death certificates in three hospitals from March 1 to April 30, 2000, and 119 death certificates in one hospital from March 1 to 31, 2000. We identified major and minor errors and analyzed and compared them retrospectively. RESULTS: A total of 381 death certificates were reviewed: 59 in Seoul National University Hospital, 101 in Ewha Woman's University Hospital, and 102 in Gachon Medical College Hospital, which has no education program for completing death certificates in postgraduate training, and 119 in Samsung Medical Center which has an education program for completing death certificates. 358 certificates(94.0%) had at least one error. There were only 23 death certificates(6.0%) without an error. In 182 cases(47.8%), there was one major error. In 321 death certificates(84.3%), there were more than two errors. A comparison of Samsung Medical Center with the other hospitals showed that the number of total errors was statistically different(p=0.001). CONCLUSION: There were few death certificates without an error in this study. In a hospital which has postgraduate training in completing death certificates, there are fewer errors than in other hospitals which have no training course. Emergency physicians actually certify many deaths, so they must know the correct method of completing death certificates for statistics on morbidity and mortality.
Death Certificates* ; Education ; Emergencies ; Mortality ; Retrospective Studies ; Seoul

Peri-implantitis is the most common reason for a late failure and can occur even after years of successful osseointegration. The role of microbial plaque accumulation in the development of peri-implantitis has been well documented. On the other hand, the ideal method of implant surface decontamination to re-establish the health of peri-implant tissue remains to be determined. Removal of bacterial deposits is essential in the treatment of peri-implant infections, and various therapeutic approaches have been described in the literature, including mechanical debridement, disinfection with chemotherapeutic agents, and laser therapy. Recently, there has been a plenitude of scientific data regarding the use of laser irradiation to achieve titanium surface decontamination. Thus, research is focusing on lasers' potential use in the treatment of peri-implantitis. The aim of this literature review is to analyze and evaluate the efficacy of laser therapy for the treatment of peri-implantitis.
Debridement ; Decontamination ; Dental Implants ; Disinfection ; Hand ; Laser Therapy* ; Osseointegration ; Peri-Implantitis* ; Titanium

In spite of proper maneuver of total knee replacement arthroplasty, some patients suffer from skin necrosis just above the implant. From Mar. 2000 to Jan. 2004, the authors performed reconstruction of knee skin defects after total knee replacement athroplasty. Total 6 cases of flap surgery were performed and patients ranged between 43-years-old to 82-years-old. Rectus femoris perforator based reversed adipofascial flaps were used in 2 cases, medial gastrocnemius muscular island flaps were used in 2 cases and sural artery based on adipofascial rotation flap was used in 1 case. One patient with extended necrosis underwent reconstruction with dual flaps of sural artery based adipofascial rotation flap and medial gastrocnemius muscular island flap. There were no distinctive complication needing additional procedure in all cases during the long term follow up. Reconstruction of necrosis following total knee replacement arthroplasty had several characteristics different from simple knee defect. The patients might have the history of long term steroid usages, excessive skin tension due to implants, underlying disease such as diabetes, rheumatoid disease, and etc. In addition, the early ambulation is mandatory in these patients of total knee replacement arthroplasty. With regards to these special considerations, a single stage and reliable operation must be needed. The authors introduce various reconstruction methods and algorithm that may aid easy decision making.
Arteries ; Arthroplasty* ; Arthroplasty, Replacement, Knee* ; Decision Making ; Early Ambulation ; Follow-Up Studies ; Humans ; Knee ; Necrosis* ; Quadriceps Muscle ; Skin ; Surgical Flaps

OBJECTIVE: To compare the R3 response of the blink reflex in medullar and spinal cord lesion and to investigate whether the reflex arc of the R3 response descend to the cervical spinal cord or not. METHOD: We have studied 3 patients with medullar lesion and 5 patients with cervical spinal cord or vertebral lesion. Normal ranges of the R3 response refer to the results suggested by Moon et al. RESULTS: In 3 patients with medullar lesion, two patients with lateral medullar lesion showed delayed R3 latency or no evoked potential. Four patients with cervial spinal cord lesion showed no R3 response. In one patient with disc protrusion R3 was normal. CONCLUSION: Our results support the hypothesis that the reflex arc of the R3 response descend to the cervical spinal cord.
Blinking* ; Evoked Potentials ; Humans ; Reference Values ; Reflex ; Spinal Cord*

Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.

Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.

BACKGROUND AND PURPOSE: Paroxysmal dyskinesia is a genetically and clinically heterogeneous movement disorder. Recent studies have shown that it exhibits both phenotype and genotype overlap with other paroxysmal disorders as well as clinical heterogeneity. We investigated the clinical and genetic characteristics of paroxysmal dyskinesia in children. METHODS: Fifty-five patients (16 from 14 families and 39 sporadic cases) were enrolled. We classified them into three phenotypes: paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dyskinesia (PED). We sequenced PRRT2, SLC2A1, and MR-1 in these patients and reviewed their medical records. RESULTS: Forty patients were categorized as PKD, 14 as PNKD, and 1 as PED. Thirty-eight (69.1%) patients were male, and their age at onset was 8.80±4.53 years (mean±SD). Dystonia was the most common symptom (38 patients, 69.1%). Pathogenic variants were identified in 20 patients (36.4%): 18 with PRRT2 and 2 with SLC2A1. All of the patients with PRRT2 mutations presented with PKD alone. The 2 patients carrying SLC2A1 mutations presented as PNKD and PED, and one of them was treated effectively with a ketogenic diet. Six mutations in PRRT2 (including 2 novel variants) were identified in 9 of the 13 tested families (69.2%) and in 8 patients of the 25 tested sporadic cases (32.0%). There were no significant differences in clinical features or drug response between the PRRT2-positive and PRRT2-negative PKD groups. CONCLUSIONS: This study has summarized the clinical and genetic heterogeneity of paroxysmal dyskinesia in children. We suggest that pediatric paroxysmal dyskinesia should not be diagnosed using clinical features alone, but by combining them with broader genetic testing.
Age of Onset ; Child* ; Chorea* ; Dyskinesias ; Dystonia ; Genetic Heterogeneity ; Genetic Testing ; Genotype ; Humans ; Ketogenic Diet ; Male ; Medical Records ; Movement Disorders ; Phenotype ; Population Characteristics

Purpose: Tubulinopathy represents a group of disorders caused by variants in tubulin genes, which present with a wide spectrum of brain malformations. This study was conducted to provide insight into the phenotypic and genetic spectra of tubulinopathy within the Korean pediatric population. Methods: Among individuals who underwent genetic testing at a pediatric neurology clinic between June 2011 and December 2021, 15 patients with tubulin gene variants were retrospectively recruited. Clinical features, genetic information, and brain imaging findings were retrospectively reviewed. Results: The genetic spectra of the patients included TUBA1A (n=5, 33.3%), TUBB4A (n=6, 40.0%), TUBB3 (n=2, 13.3%), TUBB (n=1, 6.7%), and TUBB2A (n=1, 6.7%) variants. Two novel mutations were identified: a c.497A>G; p.(Lys166Arg) variant in TUBA1A and a c.907G>C; p.(Ala303Pro) variant in TUBB. All 15 patients exhibited developmental delays, with a broad spectrum of severity. Other common manifestations included microcephaly (n=10; 66.7%) and seizures (n=9; 60%). A review of the neuroimaging data revealed a range of findings that were both genotype-specific and overlapping across genotypes. In cases of TUBA1A mutation (n=5), four patients (80%) presented with pachygyria and polymicrogyria, while three (60%) displayed cerebellar hypoplasia and dysplasia. All patients with TUBB4A variants (n=6) exhibited hypomyelination, and three (50%) had cerebellar dysplasia. Conclusion This study represents the first cohort analysis of tubulin gene mutations associated with tubulinopathy in a Korean pediatric population. It suggests that these mutations can produce a broad spectrum of neurodevelopmental and neuroimaging findings and should be considered within the differential diagnosis in relevant clinical scenarios.