• Clinical and Experimental Pediatrics
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• v.50 no.11
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• pp.1129-1133
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• 2007

Osteopetrosis, a rare osteosclerotic bone disease characterized by a defect in osteoclast function and the reduced generation of superoxide by leukocytes, can be classified into several types based on their mode of inheritance, age of onset, severity, and associated clinical symptoms. Stem cell transplantation is the only curative therapy for the infantile malignant type, although alternative treatments, such as corticosteroids, calcitriol, and interferon (IFN)-${\gamma}$ have been attempted in patients with milder clinical types. In addition, IFN-${\gamma}$ therapy has been reported to increase bone resorption and hematopoiesis and to improve leukocyte function. Here, we present the cases of two patients with osteopetrosis who benefited from either 3 or 6 years of INF-${\gamma}$ therapy that resulted in improved blood counts and no further pathological fractures.

• 한국균학회소식:학술대회논문집
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• 2015.05a
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• pp.13-13
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• 2015

Rice blast fungus, Magnaporthe oryzae, is the most destructive pathogen of rice in the world. This fungus has a biotrophic phase early in infection and switches to a necrotrophic lifestyle after host cell death. During the biotrophic phase, the fungus competes with host for nutrients and oxygen. Continuous uptake of oxygen is essential for successful establishment of blast disease of this pathogen. Here, we report transcriptional responses of the fungus to oxygen limitation. Transcriptome analysis using RNA-Seq identified 1,047 up-regulated genes in response to hypoxia. Those genes were involved in mycelial development, sterol biosynthesis, and metal ion transport based on hierarchical GO terms and well-conserved among three different fungal species. In addition, null mutants of three hypoxia-responsive genes were generated and tested for their roles on fungal development and pathogenicity. The mutants for a sterol regulatory element-binding protein gene, MoSRE1, and C4 methyl sterol oxidase gene, ERG25, exhibited increased sensitivity to hypoxia-mimetic agent, increased conidiation, and delayed invasive growth within host cells, suggesting important roles in fungal development. However, such defects did not cause any significant decrease in disease severity. The other null mutant for alcohol dehydrogenase gene, MoADH1, showed no defect in the hypoxia-mimic condition and fungal development. Taken together, this comprehensive transcriptional profiling in response to a hypoxia condition with experimental validations would provide new insights on fungal development and pathogenicity in plant pathogenic fungi.

• Archives of Reconstructive Microsurgery
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• v.10 no.2
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• pp.137-142
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• 2001

This study evaluated the results of reconstructions of thumb web space in the patients with adduction contracture of thumb. Between February 1990 and April 2000, 28 patients with thumb web space adduction contracture were treated with various reconstruction methods. We divided the patients according to the severity; mild$(41^{\circ}{\sim}80^{\circ})$, moderate$(21^{\circ}{\sim}40^{\circ})$, severe$(20^{\circ}less)$ contracture. The number of patients with mild contracture was 5, moderate; 12, severe; 11. We performed Z-plasty in 15, free flap in 8, local flap in 3, abdominal flap in 1 and scar release only in 1 case. The mean follow-up period was 5.7 years, ranged from 1.5 to 11.2 years. The results of web reconstruction were evaulated by thumb web space angle. There were excellent in 9, good in 16, fair in 3 cases. Z-plasty was performed in the 5 cases with mild contracture, and all the results were excellent. Especially, free flap was performed in the 6 cases with severe contracture, and all the results were good or excellent. in the reconstruction of thumb web space contracture, we recommend Z-plasty for a mild contracture, and free flap for large soft tissue defect created by release of a severe contracture.

• Clinical and Experimental Pediatrics
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• v.46 no.6
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• pp.597-601
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• 2003

Trisomy 9 mosaic syndrome is a rarely reported chromosomal abnormality with high incidence of intrauterine growth retardation and perinatal death. Even a baby lives, he has severe mental retardation and significant malformations. The incidence and severity of malformations and mental retardation correlate with the percentage of trisomic cells in the different tissues. The characteristic craniofacial abnormalitis are narrow bifrontal diameter, up-slanted and short palpebral fissures, a prominent nasal bridge with a short root, a prominent lip covering a receding lower lip, low-set, posteriorly rotated, and misshapen ears. Ventricular septal defect is a main cardiac abnormality. Bony hypoplasia and dislocated hips have been frequently reported. Central nervous system, hepatobiliary, gastrointestinal and genitourinary abnormalities also had been reported. The authors report a baby who had characteristic abnormalities of trisomy 9 mosaicism with narrow temples, up-slanted palpebral fissures, a bulbous nose, thin and protruding upper lip, low set and malformed ears, hyperextended wrist and overlapping fingers. Cytogenetic analysis performed to confirm the chromosomal abnormality revealed trisomy 9, low level mosaic type.

• Archives of Craniofacial Surgery
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• v.10 no.1
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• pp.23-28
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• 2009

Purpose: Blow out fracture can present tenderness, swelling, enophthalmos, extraoccular muscle limitation, paresthesia, diplopia according to severity of injury, so reconstruction of blow out fracture is important. Orbital soft tissue should be in orbit and defected orbital wall should be corrected by autologus tissue or alloplastic implants. Every implants have their merits and faults, every implants are used various. This study was designed to compare the sequelae of blow-out fracture repair using the alloplastic implants: micro-titanium mesh(Micro Dynamic titanium $mesh^{(R)}$, Leibinger, Germany), porous polyethylene ($Medpor^{(R)}$, Porex, USA), absorbable mesh plate(Biosorb $FX^{(R)}$ . Bionx Implants Ltd, Finland). Methods: Between January 2006 and April 2008, 52 patients were included in a retrospective study analysing the outcome of corrected inferior orbital wall fracture with various kind of implants. Implants were inserted through subciliary incision. Twenty patients were operated with micro-titanium mesh, fourteen patients with porous polyethylene and eighteen patients with absorbable mesh plate. In comparative category, enophthalmos, diplopia, range of motion of extraoccular muscle, inferior orbital nerve injury were more on frequently statistically in patients. Results: Fourteen of 18 patients underwent surgical repair to improve diplopia, 11 of 17 patients to improve parasthesia, 11 of 15 patients to improve enophthalmos, 8 of 9 patients to improve extraoccular muscle limitation. Duration of follow-up time ranged from 6 months to 12 months(mean, 7.4 months). There was no statistic difference of sequelae between micro titanium mesh and porous polyethylene and absorbable mesh plate in blowout fracture, inferior wall. Conclusion: There is no difference of sequelae between micro-titanium mesh, porous polyethylene and absorbable mesh plate in blow-out fracture, inferior wall. The other factors such as defect size, location, surgeon's technique, may influence the outcome of blow-out fracture repair.

• Journal of Genetic Medicine
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• v.11 no.1
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• pp.22-26
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• 2014

Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain ${\alpha}$-keto acid dehydrogenase complex. Mutations have been identified in the BCKDHA, BCKDHB, or DBT genes, which encode different subunits of the BCKDH complex. Although encephalopathy and progressive neurodegeneration are its major manifestations, the severity of the disease may range from the severe classic type to milder intermediate variants. We report two Korean siblings with the milder intermediate MSUD who were diagnosed with MSUD by a combination of newborn screening tests using tandem mass spectrometry and family genetic screening for MSUD. At diagnosis, the patients' plasma levels were elevated for leucine, isoleucine, valine, and alloisoleucine, and branched-chain ${\alpha}$-keto acids and branched-chain ${\alpha}$-hydroxy acids were detected in their urine. BCKDHA, BCKDHB, and DBT analysis was performed, and two novel mutations were identified in BCKDHB. Our patients were thought to have the milder intermediate variant of MSUD, rather than the classic form. Although MSUD is a typical metabolic disease with poor prognosis, better outcomes can be expected if early diagnosis and prompt management are provided, particularly for milder forms of the disease.

• Molecules and Cells
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• v.41 no.3
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• pp.198-206
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• 2018

Aortic dissection (AD) is a catastrophic disease with high mortality and morbidity, characterized with fragmentation of elastin and loss of smooth muscle cells. Although AD has been largely attributable to polymorphisms defect in the elastin-coding gene, tropoelastin (TE), other undermined factors also appear to play roles in AD onset. Here, we investigated the effects of post-transcriptional control of TE by microRNAs (miRNAs) on elastin levels in aortic smooth muscle cells (ASMC). We found that miR-144-3p is a miRNA that targets TE mRNA in both human and mouse. Bioinformatics analyses and dual luciferase reporter assay showed that miR-144-3p inhibited protein translation of TE, through binding to the 3'-UTR of the TE mRNA. Interestingly, higher miR-144-3p levels and lower TE were detected in the ASMC obtained from AD patients, compared to those from non-AD controls. In a mouse model for human AD, infusion of adeno-associated viruses (serotype 6) carrying antisense for miR-144-3p (asmiR-144-3p) under CAG promoter significantly reduced the incidence and severity of AD, seemingly through enhancement of TE levels in ASMC. Thus, our data suggest an essential role of miR-144-3p on the pathogenesis of AD.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.3 no.1
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• pp.89-92
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• 2000

Acute gastric volvulus is uncommon but surgically emergent. Normally, the stomach is held in position by four ligaments: gastrophrenic, gastrohepatic, gastrosplenic, and gastrocolic. In addition, relative fixation of the pylorus and esophagus provides further anchorage. A normal diaphragm also helps to prevent abnormal displacement of abdominal viscera and development of gastric volvulus. Volvulus may be organoaxial, mesenteroaxial, or a combination of both. Organoaxial volvulus is the rotation of the stomach around an axis extending from the hiatus of the diaphragm to the pylorus. Mesenteroaxial volvulus is the rotation of the stomach around an axis transecting the lesser and greater curvatures of the stomach. The symptoms of gastric volvulus depend on its type, the extent and degree of rotation and obstruction, and associated defects. Classic clinical features of acute gastric volvulus, as by Borchardt in 1904, include unproductive retching, acute, localized epigastric distention, and the inability to pass a NG tube. The presence and severity of these features depend on the degree of gastric obstruction of both the gastroesophageal junction and pyloric outlet. It may be suspected on plain abdominal radiographs and usually confirmed by upper gastrointestinal series. Acute volvulus requires immediate surgical repair, fixation to avoid recurrence, and correction of any underlying anatomic abnormality. Any associate defect should be repaired and the stomach must be fixed. The authors report a case of an 3-year-old girl who had a mesenterioaxial gastric volvulus.

• Tuberculosis and Respiratory Diseases
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• v.66 no.1
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• pp.47-51
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• 2009

Hepatopulmonary syndrome (HPS) is characterized by a defect in arterial oxygenation that's induced by pulmonary vascular dilatation in the setting of liver disease. Some studies have shown the relationship between the presence of the HPS and the severity of liver disease, but there are only rare cases of HPS inpatient with Child-Pugh class A liver cirrhosis. We report here on a case of a 58 years-old male who suffered from progressive dyspnea for the previous few years. He was diagnosed with alcoholic liver cirrhosis 5 years previously. There was no significant abnormality on the chest radiograph and transthoracic echocardiography, but the arterial blood gas analysis revealed severe hypoxemia. Contrast-enhanced transesophageal echocardiograpy with agitated saline demonstrated a delayed appearance of microbubbles in the left cardiac chambers. Thus, he was finally diagnosed with HPS. This case suggests that we should consider HPS when a patient with compensated liver cirrhosis has unexplained dyspnea.

• Clinical and Experimental Pediatrics
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• v.61 no.6
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• pp.200-204
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• 2018

Atopic dermatitis (AD) is a chronic inflammatory skin disease in children. Patients with AD experience a high rate of colonization of the skin surface by Staphylococcus aureus. Because of a skin barrier defect, there is a potential risk of staphylococcal invasive infection in patients with AD. Here, we present 2 cases of breast abscess caused by S. aureus in 2 adolescent girls with severe AD. Methicillin-sensitive S. aureus was identified from the breast abscess material. They were treated with appropriate antibiotics, however surgical drainage of the abscess was needed in case 1. Identical strains were found from the breast abscess material as well as the lesional and the nonlesional skin of the patients through matrix-assisted laser desorption/ionization time-of-flight analysis. We characterized the differential abundance of Firmicutes phylum in patients' skin in microbiota analysis. In particular, S. aureus, a member of Firmicutes, differed significantly between the lesional and the normal-appearing skin. Our cases demonstrate the potential severity of bacterial deep tissue infection in AD and the dysbiosis of skin microbiota may be involved in inflammation in AD.