• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.3
• /
• pp.85-91
• /
• 2017

Purpose: The aim of this study was to describe the clinical and biochemical features as well as the molecular analysis of a newly diagnosed illustrative case with ML II and to analyze the clinical features of 11 Korean patients with ML II/III. Method: Including a newly diagnosed patient, total 11 patients in 10 families were diagnosed as ML II (n=7) or ML III (n=4) were enrolled in the study. A diagnosis of ML II or III was made by demonstrating increased lysosomal enzyme activities in the plasma and sequence analysis of GNPTAB with characteristic clinical features. Result: A illustrative case of ML II patient was a 17 month-old boy showing characteristic facial appearance, multiple joint contractures with cardiac involvements. The enzyme assay showed increased lysosomal enzyme activities in the plasma. We identified compound heterozygous mutations in GNPTAB sequence analysis, including a frameshift (c.3428dupA [pAsn1143Lysfs*3]) and a nonsense variant c.673C>T (p.Gln225*). In total 11 patients with ML II/III, the patients with ML II showed severe growth retardation (height standard deviation score -3.2 [${\pm}1.5$]), compare to patients with ML III. Furthermore, patients with ML II patients had serious cardiac problem (n=4), hepatomegaly (n=3) and underwent tracheostomy (n=3) with further respiratory support due to respiratory distress. To improve osteoporosis and bone pain, all patients with ML III and four of 7 patients with ML II treated with intravenous pamidronate. Conclusion: Here we showed a newly diagnosed case of ML II and clinical features of 11 Korean patients with ML II or III. These data could be helpful for further diagnosis of mucolipidosis, a rare inherited metabolic disease, in Korea.

• Clinics in Shoulder and Elbow
• /
• v.15 no.1
• /
• pp.8-15
• /
• 2012

Purpose: The object of this study was to investigate the difference in torque and pullout strength between the standard anchor insertion (5.0 mm) with a small awl (3.7 mm) and larger anchor insertion (6.5 mm), with a standard awl (5.0 mm) in osteoporotic humeral head. Materials and Methods: The embalmed 24 paired cadaveric shoulders were assigned to either Group A or B. After measuring the bone mineral density (BMD) of the ROI (region of interest) in the humeral head, 5.0 mm suture anchors were inserted using a 3.7 mm awl in Group A1, and the same 5.0 mm anchors were inserted using a 5.0 mm awl in Group A2. The 5.0 mm anchors were inserted using a 5.0 mm awl in Group B1, and 6.5 mm anchors were inserted using a 5.0 mm awl in Group B2. We measured the torques at the time of the anchor insertion and pullout strengths. Results: There was no significant difference in the BMD between the groups. The torque of A1 (20.6 $cN{\cdot}m$) was significantly higher than that of A2 (13.2 $cN{\cdot}m$), and the torque of B2 (20.8 $cN{\cdot}m$) was significantly higher than that of B1(12.1 $cN{\cdot}m$). However, the difference in the increased torque between group A and B was not significant. The pullout strength of A1 (204.2 N) was significantly higher than that of A2 (152.9 N), and the pullout strength of B2 (210.9 N) was significantly higher than that of B1 (149.5 N). However, the difference in the increased pullout strength between Group A and B was not significant. Conclusion: In severe osteoporosis, the use of a larger suture anchor with a standard awl increased the torque and pullout strength significantly, in comparison to the use of the same sized suture anchor and awl. If there is an inadequate interval between the anchors on the greater tuberosity, the use of a 3.7 mm awl and 5.0 mm anchor will be beneficial compared to that of a 5.0 mm awl and 6.5 mm anchor, considering that an increase in the pullout strength does not depend on the awl size.

• Tuberculosis and Respiratory Diseases
• /
• v.52 no.5
• /
• pp.529-538
• /
• 2002

Background : Many clinicians are reluctant to prescribe systemic corticosteroids to manage an asthmatic attack because of many complications such as osteoporosis, cushing's syndrome, diabetes, hypertension and bleeding tendency. The use of nebulized budesonide may be of value in some infants, old men, and in particular adult asthmatic patients who complain of severe dyspnea. A clinical validation and steroid-sparing effect of nebulized budesonide in asthmatic adults and COPD were evaluated, and the short-term effects of budesonide use on the HPA axis were assessed. Materials and Methods : Study A was prospectively done with 41 patients diagnosed with pure asthma and 30 patients diagnosed with COPD (including asthmatic component) in Soonchunhyang Hospital, Chunan from June. 2000 to Sep. 2001. They were treated with nebulized budesonide including systemic steroids (Group 1), a budesonide tubuhaler including a systemic steroid (Group 2), or only the systemic steroid(Group 3). The peak flow rate, arterial blood gas in room air, pulmonary function test, symptom scoring, steroid amount and hospital stay were analyzed. Study B was conducted with 19 patients to evaluate the short-term effects on the HPA axis of treatment with nebulized budesonide 1mg twice daily and a budesonide turbuhaler 5 puffs twice daily. The adrenal function was assessed prior to budesonide inhalation and after 7 days of budesonide inhalation. Results : In the pure asthmatic patients, the mean value of the symptoms (dyspnea, wheezing, cough, night asthma) or the arterial BGAs, total amounts of steroid or hospital stay and the difference in the results of the pulmonary function tests or peak expiratory flow rate were similar in the three groups. In COPD with an asthmatic component, there were no significant differences among the three groups. Although nebulized budesonide suppressed HPA function,(p=0.006) the HPA responses from the nebulized budesonide and turbuhaler budesonide were similar (p=0.288) Conclusion : This result suggests that systemic steroid should only be made available for acute asthmatic patients irrespective of the inhaled budesonides. Nebulized budesonide at the therapeutic dose has similar effects on the HPA axis compared to that of turbuhaler budesonide.

• Progress in Medical Physics
• /
• v.21 no.1
• /
• pp.52-59
• /
• 2010

To examine among patients with vertebral compression fracture the extent to which signal-to-noise ratio (SNR) and Apparent Diffusion Coefficient (ADC) values at the lumbar vertebral compression fracture site vary on diffusion-weighted MR images according to varying b values on the 1.5T MR device. Diffusion-weighted MR images of 30 patients with compression fracture due to chronic osteoporosis who underwent vertebral MRI from Jan. 2008 to Nov. 2009 were respectively obtained using a 1.5-T MR scanner with the b values increased from 400, 600, 800, 1,000 to $1,200\;s/mm^2$. For diffusion-weighted MR images with different b values, the signal-to-noise ratio (SNR) was assessed at three sites: the site of compression fracture of the lumbar vertebral body at L1 to L5, and both the upper and lower discs of the said fracture site, while for ADC map images with different b values, the SNR and ADC were respectively assessed at those three sites. As a quantitative analysis, diffusion-weighted MR images and ADC map images with b value of $400\;s/mm^2$ (the base b values) were respectively compared with the corresponding images with each different b value. As far as qualitative analysis is concerned, for both diffusion-weighted MR and ADC map images with b value of $400\;s/mm^2$, the extent to which signal intensity values obtained at the site of compression fracture of the lumbar vertebral body at L1 to L5 vary according to the increasing b values were examined. The quantitative analysis found that for both diffusion-weighted MR and ADC map images, as the b values increased, the SNR were relatively lowered at all the three sites, compared to the base b value. Also, it was found that as the b values increased, ADC valueswere relatively lowered at all the three sites on ADC map images. On the other hand, the qualitative analysis found that as the b values increased to more than $400\;s/mm^2$, the signal intensity gradually decreased at all the sites, while at the levels of more than $1,000\;s/mm^2$, severe image noises appeared at all of the three sites. In addition, higher signal intensity was found at the site of compression fracture of the lumbar vertebral body than at the discs. Findings showed that with the b value being increased, both the signal-to-noise ratio (SNR) and Apparent Diffusion Coefficient (ADC) values gradually decreased at all the sites of the lumbar vertebral compression fracture and both the upper and lower discs of the fracture site, suggesting that there is a possibility of a wider range of applications to assessment of various vertebral pathologies by utilizing multi b values in the diffusion-weighted MRI examination.