PURPOSE: To analyze the length and area of limbal dermoid invading the cornea and to evaluate the effects on visual acuity and astigmatism before and after surgery. METHODS: This retrospective study included 20 eyes of 20 patients who underwent surgical removal of limbal dermoid. The preoperative and postoperative visual acuity and astigmatism level were measured. In addition, we evaluated the correlations of astigmatism with the length ratio (length of limbal dermoid invading the cornea/total corneal diameter), width ratio (width of limbal dermoid invading the cornea/total corneal diameter), and area ratio (area of limbal dermoid invading the cornea/total corneal area) using preoperative anterior segment photographs. RESULTS: The mean preoperative astigmatism was 0.85 ± 0.71 D in the sound eye and 3.00 ± 3.14 D in the affected eye (p = 0.004). Length, width, and area ratio of limbal dermoid have positive correlation with astigmatism (p < 0.010 for all variables), with a larger length ratio of limbal dermoid invading the cornea producing greater reduction in postoperative astigmatism (p = 0.010, r = 0.816). The amount of astigmatism was significantly higher in patients with amblyopia in the affected eye (p = 0.030). Visual acuity gain more than 2 lines was achieved in 8 among 10 patients with amblyopia under the age of 7 years through the appropriate refractive correction and occlusion 1 year after surgery. CONCLUSIONS: Astigmatism is a major cause of amblyopia in pediatric patients with limbal dermoid. The degree of astigmatism can be predicted by the size factors of the limbal dermoid. In particular, the relative length of limbal dermoid invading the cornea has a stronger correlation with preoperative astigmatism than other factors and has correlation with postoperative reduction of astigmatism. It should be emphasized that children with limbal dermoid need appropriate refractive correction and occlusion in addition to surgical excision.
Amblyopia ; Astigmatism ; Child ; Cornea ; Dermoid Cyst* ; Humans ; Retrospective Studies ; Visual Acuity

Mosapride stimulated dietary motility was introduced because of the arrhythmogenic effect of cisapride. Cisapride, 5-HT receptor agonist, induces prolongation of QT interval. Additionally, this condition can raise the possibility of acute, "malignant" arrhythmias such as torsade de pointes. It is hard to find any reports about effects of mosapride on cardiac parameters in dogs. By confirming electrocardiogram (ECG) parameters, the surface extremity leads ECG that was obtained from the four-limb electrodes and which was recorded by an ECG recorder after administration of mosapride 3 mg/kg PO b.i.d, and mosapride 3 mg/kg with itraconazole 5 mg/kg PO b.i.d, respectively. QT interval was shortened on the days of 3, 5, and post-day 1 in both mosapride 3 mg/kg administrated group and mosapride with itraconazole group. Heart rate increased significantly. QTc was slightly prolonged in mosapride administration group and mosapride with itraconazole group. However, all dogs of QTc were in normal variation (150~250 msec). Besides, the dogs showed no side effects reported in human medicine during the administration with these drugs. Although mosapride can increase the heart rate, this study suggest that mosapride may be useful for the dogs with disorders of gastrointestinal motility because of no fatal arrhythmogenic effect inspite of administration with itraconazole in dogs.
Animals ; Arrhythmias, Cardiac ; Benzamides ; Cisapride ; Citric Acid ; Dogs ; Electrocardiography ; Electrodes ; Extremities ; Gastrointestinal Motility ; Heart Rate ; Humans ; Itraconazole ; Morpholines ; Serotonin ; Torsades de Pointes

Clinical therapy that combines full-mouth rehabilitation with immediate implantation and orthognathic surgery poses a challenge to prosthodontists. This clinical report describes a multidisciplinary approach to the diagnosis and treatment of a patient presenting with skeletal discrepancy and rampant caries. The results thus achieved indicate that full-mouth rehabilitation by fixed immediate and early loading implantation accompanied by orthognathic surgery can be a predictable and effective treatment procedure.
Diagnosis ; Humans ; Orthognathic Surgery* ; Rehabilitation*

BACKGROUND: Invariant Natural killer T (iNKT) cells, a distinct subset of CD1d-restricted T cells with invariant Valphabeta TCR, functionally bridge innate and adaptive immunity. While iNKT cells share features with conventional T cells in some functional aspects, they simultaneously produce large amount of Th1 and Th2 cytokines upon T-cell receptor (TCR) ligation. However, gene expression pattern in two types of cells has not been well characterized. METHODS: we performed comparative microarray analyses of gene expression in murine iNKT cells and conventional CD4+CD25-gammadeltaTCR- T cells by using Gene Set Enrichment Analysis (GSEA) method. RESULTS: Here, we describe profound differences in gene expression pattern between iNKT cells and conventional CD4+CD25-gammadeltaTCR- T cells. CONCLUSION: Our results provide new insights into the functional competence of iNKT cells and a better understanding of their various roles during immune responses.
Adaptive Immunity ; Cytokines ; Gene Expression ; Ligation ; Mental Competency ; Natural Killer T-Cells ; Receptors, Antigen, T-Cell ; T-Lymphocytes

C677T mutation in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) predisposes to hyperhomocysteinemia in vivo and is known to be one of the causes of perinatal ischemic stroke. As MTHFR plays a role in the metabolism of homocysteine, C677T mutation may account for reduced enzymatic activity resulting in hyperhomocysteinemia. This may be prevented by introducing activity-enhancing coenzymes such as folic acid, vitamin B6, and B12. Though C677T mutation is known as a significant risk factor for cerebral infarction, reported cases of cerebral infarction among affected neonates are scarce. This report describes a case of a neonate homozygous for C677T mutation who had a perinatal ischemic stroke, born in a mother whose folic acid and nutritional consumption had been reduced during pregnancy.
Cerebral Infarction* ; Coenzymes ; Folic Acid ; Homocysteine ; Humans ; Hyperhomocysteinemia ; Infant, Newborn ; Metabolism ; Mothers ; Oxidoreductases ; Pregnancy ; Risk Factors ; Stroke ; Vitamin B 6

OBJECTIVE: Core needle biopsy (CNB) of the thyroid is an additional diagnostic method for non-diagnostic or indeterminate cytology samples. We sought to evaluate a new modified core biopsy technique and compare the concordance of its diagnosis with the final diagnosis of the surgically resected specimen. MATERIALS AND METHODS: A retrospective analysis was conducted on 842 patients who had a thyroid CNB with or without a previous fine-needle aspiration from August 2002 to March 2015; 38% of patients ultimately underwent thyroidectomy. We divided the patients into two groups for comparison: conventional group (n = 329) and new modified technique group (n = 513) that enabled sampling of not only the lesion but also the margin and surrounding parenchyma. The diagnostic conclusiveness of CNB and concordant rate with thyroidectomy was compared between the two groups. RESULTS: The overall diagnostic conclusiveness did not exhibit a significant increase (77% in the conventional technique group and 75% in the modified technique group, p = 0.408). In terms of the diagnostic concordance rate between CNB and thyroidectomy, no overall significant increase was observed (83% in the conventional technique group and 88% in the modified technique group, p = 0.194). However, only in follicular-patterned lesions (nodular hyperplasia, follicular neoplasm, and follicular variant of papillary thyroid carcinoma), a significant increase in the diagnostic concordance rate was observed (83% in the conventional group and 94% in the modified technique group, p = 0.033). CONCLUSION: Modified CNB technique can be beneficial for the accurate diagnosis of follicular-patterned thyroid lesions.
Biopsy* ; Biopsy, Fine-Needle ; Biopsy, Large-Core Needle ; Diagnosis* ; Humans ; Hyperplasia ; Methods ; Retrospective Studies ; Thyroid Gland* ; Thyroid Nodule* ; Thyroidectomy

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.

Emerging evidences have reported that periodontitis can be a risk factor for the pathogenesis of various systemic diseases. Porphyromonas gingivalis (Pg), one of the crucial pathogens in chronic periodontitis, has been spotlighted as a potential cause for the promotion and acceleration of periodontitis-associated systemic disorders. To investigate the association between Pg and intestinal disease or homeostasis, we treated Pg-derived lipopolysaccharide (LPS) in murine colitis model or intestinal organoid, respectively. Pg-derived LPS (Pg LPS) was administrated into chemically induced murine colitis model and disease symptoms were monitored compared with the infusion of LPS derived from E. coli (Ec LPS). Organoids isolated and cultured from mouse small intestine were treated with Pg or Ec LPS and further analyzed for the generation and composition of organoids. In vivo observations demonstrated that both Pg and Ec LPS exerted slight protective effects against murine colitis. Pg LPS did not affect the generation and growth of intestinal epithelial organoids. Among subtypes of epithelial cells, markers for stem cells, goblet cells or Paneth cells were changed in response to Pg LPS. Taken together, these results indicate that Pg LPS leads to partial improvement in colitis and that its treatment does not significantly affect the self-organization of intestinal organoids but may regulate the epithelial composition.
Acceleration ; Animals ; Chronic Periodontitis ; Colitis ; Epithelial Cells ; Goblet Cells ; Homeostasis ; Intestinal Diseases ; Intestinal Mucosa ; Intestine, Small ; Mice ; Organoids ; Paneth Cells ; Periodontitis ; Porphyromonas gingivalis ; Porphyromonas ; Risk Factors ; Stem Cells