• International Journal of Stem Cells
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• v.16 no.2
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• pp.145-155
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• 2023

Background and Objectives: Embryologically, mesodermal development is closely related to the development of various organs such as muscles, blood vessels, and hearts, which are the main organs that make up the body. However, treatment for mesoderm developmental disorders caused by congenital or acquired factors has so far relied on surgery and drug treatment for symptom relief, and more fundamentally, treatment for mesoderm developmental disorders is needed. Methods and Results: In our study, microRNA (miRNA), which plays an important role in the mesoderm development process, was identified and the developmental function was evaluated. miRNAs consist of small nucleotides, which act as transcription factors that bind to the 3' untranslated region and suppressed target gene expression. We constructed the human embryonic stem cell (hESC) knockout cell line and analyzed the function and characteristics of miR-5739, which plays an important role in mesoderm lineage. miR-5739 acts as a transcription factor targeting SMA, Brachyury T, Hand1, which controls muscle proliferation and differentiation, and KDR gene, which regulates vessel formation in vitro. In vivo results suggest a role in regulating muscle proliferation and differentiation. Gene ontology analysis confirmed that the miR-5739 is closely related to genes that regulate muscle and vessel proliferation and differentiation. Importantly, abnormal expression of miR-5739 was detected in somatic cells derived from patients with congenital muscle disease. Conclusions: Our study demonstrate that miR-5739 gene function significantly affects transcriptional circuits that regulate muscle and vascular differentiation during embryonic development.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.2
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• pp.94-98
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• 2012

Purpose: Developmental delay and mental retardation are frequently occurring disorders that present major socio-economic burden on the affected individual's family and society. Both can be congenital or acquired. However, a large number of people are institutionalized without exact diagnosis and, as a result, have not received proper care. Methods: 508 subjects with mental retardation or developmental delay from six institutions in Chung Buk Province were clinically evaluated and screened for metabolic and endocrinologic problems between 2000 and 2012. Results: Clinical genetic disorders were observed in 52 (10.2%) subjects. Cerebral palsy attributed to 21% of the institutionalized. 18 (3.5%) were diagnosed with metabolic disorders and 13 (2.6%) exhibited secondary endocrinologic dysfunction. Over 16% showed metabolic evidence of malnutrition. Conclusion: 21% and 3.5% of the population institutionalized due to mental retardation or developmental delay were afflicted by preventable cerebral palsy and metabolic disorders, respectively. Through early identification of the causes and early treatment, it may be possible to prevent, reduce, or alleviate the disability of many institutionalized individuals. Further research is imperative for establishing guidelines for diagnostic investigation for mental retardation.

• Clinical and Experimental Pediatrics
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• v.57 no.8
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• pp.337-344
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• 2014

Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often have substantial phenotype overlap, and therefore, genotyping is often a critical means of establishing a diagnosis. Current advances in the field of IBMFSs have identified multiple genes associated with IBMFSs and their pathways: genes involved in ribosome biogenesis, such as those associated with Diamond-Blackfan anemia and Shwachman-Diamond syndrome; genes involved in telomere maintenance, such as dyskeratosis congenita genes; genes encoding neutrophil elastase or neutrophil adhesion and mobility associated with severe congenital neutropenia; and genes involved in DNA recombination repair, such as those associated with Fanconi anemia. Early and adequate genetic diagnosis is required for proper management and follow-up in clinical practice. Recent advances using new molecular technologies, including next generation sequencing (NGS), have helped identify new candidate genes associated with the development of bone marrow failure. Targeted NGS using panels of large numbers of genes is rapidly gaining potential for use as a cost-effective diagnostic tool for the identification of mutations in newly diagnosed patients. In this review, we have described recent insights into IBMFS and how they are advancing our understanding of the disease's pathophysiology; we have also discussed the possible implications they will have in clinical practice for Korean patients.

• Investigative Magnetic Resonance Imaging
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• v.13 no.2
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• pp.190-194
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• 2009

Generalized lymphangiomatosis is a rare congenital malformation of the lymphatics. CT and MR scan have been used to evaluate lymphangiomas, which appear as large multicystic fluid-filled masses. CT and MR Imaging findings are often helpful in distinguishing lymphangiomas from various vascular disorders. We report the findings of CT, MRI and bone scan in a patient with generalized cystic lymphangiomatosis. Whole body 3.0-T MR scan using STIR sequence with a larger FOV could detect the additional lesions that were not seen at other imaging modalities. We believe that whole body 3.0 T MR imaging is a good modality to evaluate the extent of the disease and following up the patients with the generalized cystic lymphangiomatosis.

• Journal of Chest Surgery
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• v.27 no.3
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• pp.221-225
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• 1994

Video-assisted thoracic surgery[VATS] has recently evolved as an alternative to thoracotomy for several thoracic disorders. Between March 1993 and September 1993, 42 patients underwent VATS at Gil General Hospital. They were diagnosed as spontaneous pneumothorax in 34[81.0%], mediastinal mass in 5, congenital lobar emphysema in 1, traumatic hemothorax in 1, and sarcoidosis in 1. For pneumothorax, wedge resection of bullae or blebs was done in 18 patients, wedge resection and limited parietal pleulectomy in 13, and only pleulectomy in 2. And excision for mediastinal mass in 5, hematoma evacuation for chronic hemothorax in 1, biopsies of mediastinal lymph node and lung for confirming sarcoidosis in 1, and lobectomy of left upper lobe for congenital lobar emphysema in the child of 12 years. The period of chest tube drainage and postoperative hospitalization averaged 3.8 days [range, 1 to 11 days] and 5.9 days [range, 2 to 18 days]. Three complications occurred in 3 patients with pneumothorax [7.1%, 2 recurrent pneumothorax and 1 postoperative bleeding], and the conversion to open thoracotomy was done in 1 due to massive air leak. The causes of postoperative air leak were speculated and the techniques for saving expensive Endo-GIA staplers are described in this paper. VATS is safe and offers the benefits of reduced postoperative pain and rapid recovery. Our experience indicates a markedly expanded role for VATS in the diagnosis and treatment of various thoracic diseases.

• Archives of Plastic Surgery
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• v.36 no.6
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• pp.792-794
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• 2009

Purpose: Clotting factor X deficiency is one of the most uncommon coagulation disorders. The authors describe a case of cleft palate in a patient with a congenital clotting factor X deficiency. Methods: In pediatric patients with a cleft palate, the coagulation problem is more worrisome, because they are more sensitive to blood than adults, and because postoperative bleeding can cause blood ingestion with subsequent vomiting, aspiration, and airway obstruction. To prevent hemorrhagic complications in the described case, fresh frozen plasma (FFP) was administered every 24 hrs from the day before surgery to the second postoperative day. Results: Good hemostasis, normal healing, and no complications was shown postoperatively. Conclusion: The replacement of fresh frozen plasma was useful in the case of congenital clotting factor deficiency for bleeding prophylaxis in cleft palate operation.

• Neonatal Medicine
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• v.16 no.2
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• pp.244-247
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• 2009

Thyroid hemiagenesis is a rare congenital anomaly in which one thyroid lobe fails to develop. Thyroid hemiagenesis usually does not cause clinical symptoms by itself, therefore, this anomaly is detected incidentally during the evaluation of other thyroid disorders. We describe a rare case of thyroid hemiagenesis in a 1-month-old female infant who presented with prolonged jaundice and abnormal laboratory findings of congenital hypothyroidism. The patient showed the characteristic features of thyroid hemiagenesis of the left lobe in Tc-99m pertechnetate scintigraphy and ultrasonography of the thyroid gland. The patient has improved with supportive care, including thyroid hormone replacement. Further long-term follow-up is required for the investigation of recurrence of thyroid abnormalities.

• Korean Journal of Cleft Lip And Palate
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• v.12 no.1
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• pp.7-20
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• 2009

Orthodontic treatment planning of cleft lip and palate requires consideration of the characteristic features, growth pattern and functional disorders related to cleft lip and palate patients. Tissue deficiencies and constriction of the scar tissue in surgically treated cleft lip and palate results in disturbance of maxillary growth and deficiency of midfacial region with anterior and posterior crossbite. These patients often present congenital missing of teeth, supernumerary teeth, malformed teeth, or ectopic position of teeth, which should be treated by orthodontic treatment by expanding upper arch followed by fixed appliance. Proper use of retainer and continuous follow-up is needed to prevent relapse after orthodontic treatment has finished. Also we have to pay attention to correct speech disorder which is caused by the velopharyngeal insufficiency.

• Neonatal Medicine
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• v.28 no.2
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• pp.89-93
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• 2021

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.14-21
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• 2024

Infantile nystagmus syndrome (INS) refers to congenital forms of nystagmus that are present at birth or during infancy. This syndrome may be caused by afferent visual system disorders or abnormal development of the ocular motor system. INS is a genetically heterogeneous disorder for which there are more than 100 causative genes. Since applying clinical tests for the differential diagnosis of INS can be challenging in early infancy and children, genetic testings such as next-generation sequencing are becoming more important for achieving accurate diagnoses. An improved understanding of the molecular mechanisms of INS may also lead to the development of gene-based therapies for INS. These advantages of genetic testing have the potential to change the diagnostic paradigm of patients with INS. However, the diagnostic pathway based on genetic testing still has several limitations in terms of the therapeutic effect and methodology. This review summarizes genetic and clinical features of INS, and discusses the promise and pitfalls of genetic testing in INS.