Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)

Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme replacement therapy (ERT) with idursulfase (Elaprase®) or idursulfase beta (Hunterase®) have been developed for these patients. The effect of ERT on the growth of Korean patients with Hunter syndrome was evaluated at a single center. This study comprised 32 patients, who had received ERT for at least 2 yr; they were divided into three groups according to their ages at the start of ERT: group 1 (<6 yr, n=14), group 2 (6-10 yr, n=11), and group 3 (10-20 yr, n=7). The patients showed marked growth retardation as they got older. ERT may have less effect on the growth of patients with the severe form of Hunter syndrome. The height z-scores in groups 2 and 3 revealed a significant change (the estimated slopes before and after the treatment were -0.047 and -0.007, respectively: difference in the slope, 0.04; P<0.001). Growth in response to ERT could be an important treatment outcome or an endpoint for future studies.

Graphical Abstract

相似文献   

Thyroid Cancers with Benign-Looking Sonographic Features Have Different Lymph Node Metastatic Risk and Histologic Subtypes According to Nodule Size

A decision to perform fine needle aspiration (FNA) on thyroid nodules mainly depends on sonographic features. We investigated if lymph node metastasis (LNM) risk differed by tumor size of thyroid cancers without suspicious sonographic features. Three hundred sixty patients with thyroid cancers with benign looking sonographic features were grouped by nodule size on ultrasonography (US) (≤ or >1 cm). The clinicopathologic parameters were compared between the groups. A multivariate analysis was performed to discover the independent factors predicting the presence of LNM. The nodules greater than 10 mm on US (n?=?157) demonstrated a larger tumor size on histology (17.9?±?14.5 vs. 5.6?±?2.4 mm, P?P?P?P?=?0.007). A multivariate analysis revealed that classical PTC, extrathyroidal extension, and the US nodule size >10 mm were independent predictive factors of LNM after adjusting for age, sex, TSH level, and multifocality. Thyroid cancers larger than 10 mm with benign US features are more likely to be nonclassical PTC than those with smaller diameters. The larger ones also have an increased risk of LNM in classical PTC. These cases require a more aggressive approach to FNA.     

Is the AIMS65 score useful in predicting outcomes in peptic ulcer bleeding?

AIM:To evaluate the applicability of AIMS65 scores in predicting outcomes of peptic ulcer bleeding.METHODS:This was a retrospective study in a single center between January 2006 and December 2011.We enrolled 522 patients with upper gastrointestinal haemorrhage who visited the emergency room.Highrisk patients were regarded as those who had rebleeding within 30 d from the first endoscopy as well as those who died within 30 d of visiting the Emergency room.A total of 149 patients with peptic ulcer bleeding were analysed,and the AIMS65 score was used to retrospectively predict the high-risk patients.RESULTS:A total of 149 patients with peptic ulcer bleeding were analysed.The poor outcome group comprised 28 patients[male:23(82.1%)vs female:5(10.7%)]while the good outcome group included 121patients[male:93(76.9%)vs female:28(23.1%)].The mean age in each group was not significantly different.The mean serum albumin levels in the poor outcome group were slightly lower than those in the good outcome group(P=0.072).For the prediction of poor outcome,the AIMS65 score had a sensitivity of35.5%(95%CI:27.0-44.8)and a specificity of 82.1%(95%CI:63.1-93.9)at a score of 0.The AIMS65 score was insufficient for predicting outcomes in peptic ulcer bleeding(area under curve=0.571;95%CI:0.49-0.65).CONCLUSION:The AIMS65 score may therefore not be suitable for predicting clinical outcomes in peptic ulcer bleeding.Low albumin levels may be a risk factor associated with high mortality in peptic ulcer bleeding.     

Clinical Outcomes Associated with Treatment Modalities for Gastrointestinal Bezoars

Background/Aims

With technical and instrumental advances, the endoscopic removal of bezoars is now more common than conventional surgical removal. We investigated the clinical outcomes in a patient cohort with gastrointestinal bezoars removed using different treatment modalities.

Methods

Between June 1989 and March 2012, 93 patients with gastrointestinal bezoars underwent endoscopic or surgical procedures at the Asan Medical Center. These patients were divided into endoscopic (n=39) and surgical (n=54) treatment groups in accordance with the initial treatment modality. The clinical feature and outcomes of these two groups were analyzed retrospectively.

Results

The median follow-up period was 13 months (interquartile range [IQR], 0 to 77 months) in 93 patients with a median age of 60 years (IQR, 50 to 73 years). Among the initial symptoms, abdominal pain was the most common chief complaint (72.1%). The bezoars were commonly located in the stomach (82.1%) in the endoscopic treatment group and in the small bowel (66.7%) in the surgical treatment group. The success rates of endoscopic and surgical treatment were 89.7% and 98.1%, and the complication rates were 12.8% and 33.3%, respectively.

Conclusions

Endoscopic removal of a gastrointestinal bezoar is an effective treatment modality; however, surgical removal is needed in some cases.     

Hemoglobin A1c values are affected by hemoglobin level and gender in non‐anemic Koreans

Aims/Introduction

To evaluate whether hemoglobin A1c (HbA1c) levels are affected by hemoglobin level and gender.

Materials and Methods

A cross‐sectional analysis was carried out in a sample of 87,284 non‐diabetic Koreans without anemia who participated in comprehensive health check‐ups between January and December 2009 at the Kangbuk Samsung Hospital Total Healthcare Center in Seoul, Korea. We categorized men and women separately according to fasting plasma glucose and hemoglobin level to carry out the analysis.

Results

HbA1c increased steadily with increasing fasting plasma glucose level. Both men and women with lower hemoglobin had significantly higher HbA1c at a given fasting glucose level, and this result was consistent across the fasting glucose quintiles within the non‐diabetic range. Women had a lower mean hemoglobin value compared with men, and women had higher HbA1c levels at a given fasting glucose level consistently across the fasting glucose deciles. There was also a gender‐specific association between age and HbA1c (P < 0.001 for interaction).

Conclusions

HbA1c values were affected by hemoglobin level and gender in non‐anemic Koreans. Thus, hemoglobin level and gender should be considered in the diagnosis of diabetes using HbA1c.     

Performance evaluation of MR-proadrenomedullin and other scoring systems in severe sepsis with pneumonia

Background

In sepsis, risk assessment is as crucial as early and accurate diagnosis. In this study, we aimed to evaluate the prognostic value of mid-regional proadrenomedullin (MR-proADM) with other scoring systems in severe sepsis and septic shock patients due to community acquired pneumonia (CAP).

Methods

Patients were divided into 2 groups as severe sepsis and septic shock due to CAP (group 1, n=31) and only CAP group (group 2, n=26). Serum MR-proADM, procalcitonin (PCT), C-reactive protein (CRP), and d-dimer level were analyzed. Acute Physiological and Chronic Health Evaluation (APACHE) II score, Sequential Organ Failure Assessment (SOFA) score, and Pneumonia Severity Index (PSI) were performed for all patients.

Results

There was no difference between groups in terms of serum MR-proADM levels (P=0.780). Serum MR-proADM was not found a significant value for the prediction of death within the 4 and 8 weeks in all patients. SOFA score was the most significant to predict mortality in 4 and 8 weeks (P<0.001). The combination of SOFA score and serum MR-proADM was a strong factor to predict death in 4 weeks (specifity 86.8% and sensitivity 66.7%). The combination of MR-proADM, SOFA score, and APACHE II score was found 75.0% sensitive and 71.4% specific to predict mortality within 4 weeks in group 1.

Conclusions

The MR-proADM does not correlate with mortality or disease severity to predict mortality. The combination of SOFA, APACHE II scores, and MR-proADM was efficient to predict prognosis and mortality rate in severe sepsis or septic shock patients.     

The Biodurability of Covering Materials for Metallic Stents in a Bile Flow Phantom

Background  

Covered biliary metal stents have been introduced for the purpose of overcoming tumor ingrowth and treatment of benign biliary stricture. The aim of this study was to evaluate the biodurability of three commercially available biliary metal stent covering materials [e-PTFE (expanded polytetrafluoroethylene), silicone, and polyurethane] in a bile flow phantom.     

Balneotherapy in fibromyalgia: a single blind randomized controlled clinical study

We aimed to evaluate the effectiveness of balneotherapy in fibromyalgia management. Fifty women with fibromyalgia under pharmacological treatment were randomly assigned to either the balneotherapy (25) or the control (25) group. Four patients from the balneotherapy group and one patient from the control group left the study after randomization. The patients in the balneotherapy group (21) had 2 thermomineral water baths daily for 2?weeks in Tuzla Spa Center. The patients in the control group (24) continued to have their medical treatment and routine daily life. An investigator who was blinded to the study arms assessed the patients. All patients were assessed four times; at the beginning of the study, at the end of the 2nd week, the 1st month, and the 3rd month after balneotherapy. Outcome measures of the study were pain intensity, Fibromyalgia Impact Questionnaire (FIQ), Beck Depression Inventory (BDI), patient’s global assessment, investigator’s global assessment, SF-36 scores, and tender point count. Balneotherapy was found to be superior at the end of the cure period in terms of pain intensity, FIQ, Beck Depression Inventory, patient’s global assessment, investigator’s global assessment scores, and tender point count as compared to the control group. The superiority of balneotherapy lasted up to the end of the 3rd month, except for the Beck Depression Inventory score and the investigator’s global assessment score. Significant improvements were observed in PF, GH, and MH subscales of SF-36 during the study period in the balneotherapy group; however, no such improvement was observed in the control group. Balneotherapy was superior only in VT subscale at the end of therapy and at the end of the third month after the therapy as compared to the controls. It was concluded that balneotherapy provides beneficial effects in patients with fibromyalgia.