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Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia
Lee, Ye Seung,Kim, Hui Kwon,Kim, Hye Rim,Lee, Jong Yoon,Choi, Joong Wan,Bae, Eun Ju,Oh, Phil Soo,Park, Won Il,Ki, Chang Seok,Lee, Hong Jin The Korean Pediatric Society 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.5
Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 ($p.Gln213^*$). To our knowledge, this is a novel mutation in GNAS.
Lee, Sang-Woo,Lee, Jaetae,Lee, Hui Joong,Seo, Ji-Hyoung,Kang, Seong-Min,Bae, Jin-Ho,Ahn, Byeong-Cheol Mary Ann Liebert 2007 Thyroid Vol.17 No.4
<P>OBJECTIVE: The exact prevalence and clinical significance of ectopic thyroid or thyroglossal duct remnant (TGDR) in the general population have not yet been fully determined despite numerous case reports. This study was prepared to assess the prevalence of TGDR in asymptomatic subjects during hypothyroidism after a total thyroidectomy for differentiated thyroid cancer (DTC) and to clarify the clinical implication. DESIGN: Tc-99m pertechnetate scintigraphy (Tc-scan) of the head and neck before radioiodine ablation therapy and whole-body and pinhole I-131 scintigraphy (I-scan) after ablation therapy were reviewed for 131 consecutive DTC patients with hypothyroidism after a total thyroidectomy. MAIN OUTCOME: Forty-four among the 131 patients (33.6%) revealed an unexpected linear or focal radioactivity at the anterior midline of the neck, suggesting the presence of TGDR. The Tc-scan and pinhole I-scan were concordant in all cases of abnormal midline neck uptake, although the planar I-scan failed to delineate TGDR due to prominent photon scattering in most cases. Preoperative enhanced neck computed tomography scan was performed in 49 patients and showed no evidence of thyroid glandular tissue separated from thyroid gland in midline of the anterior neck except 1 case. The success rate after radioiodine ablation did not differ significantly between the positive and negative TGDR patients. CONCLUSIONS: TGDR can be frequently observed in scintigraphy of hypothyroid subjects after a thyroidectomy, even when clinically unexpected. Therefore, care should be taken not to confuse the tracer uptake by TGDR with metastatic foci in I- and Tc-scans of patients with hypothyroidism after a thyroidectomy for DTC.</P>
Lee, Dong-Hyeon,Jeon, Hui-Kyung,You, Ji-Han,Park, Mi-Yeon,Lee, Seung-Jae,Kim, Sung-Sik,Shim, Byung-Joo,Choi, Yun-Seok,Shin, Woo-Seung,Lee, Jong-Min,Park, Chul-Soo,Youn, Ho-Joong,Chung, Wook-Sung,Kim, The Korean Society of Cardiology 2010 Korean Circulation Journal Vol.40 No.8
<P><B>Background and Objectives</B></P><P>Pentraxin 3 (PTX3) was shown to be elevated in the acute phase of acute myocardial infarction (AMI) and to have prognostic significance in AMI patients. The aim of this study was to estimate whether the value of PTX3 could be used as a prognostic biomarker, with the global registry of acute coronary events (GRACE) risk assessment tool, in patients with acute coronary syndrome (ACS).</P><P><B>Subjects and Methods</B></P><P>Between July 2007 and June 2008, 137 patient subjects (mean age : 61±12 years, M : F=108 : 29) with ACS who underwent coronary intervention, but did not have a prior percutaneous coronary intervention (PCI) and/or follow-up coronary angiogram, were enrolled. We estimated the all-cause mortality or death/MI, in-hospital and to 6 months, using the GRACE risk scores and compared these estimates with serum PTX3 concentrations.</P><P><B>Results</B></P><P>The serum PTX3 concentration showed a significant increase in ST segment elevation myocardial infarction (STEMI) greater than the unstable angina pectoris (UAP) group (2.4±2.1 ng/mL vs. 1.3±0.9 ng/mL, p= 0.017, respectively), but did not show a significant difference between non-ST segment elevation myocardial infarction (NSTEMI) and the UAP group (1.9±1.4 ng/mL vs. 1.3±0.9 ng/mL, p=0.083, respectively). The serum PTX3 concentration was closely related to death/MI in-hospital (r=0.242, p=0.015) and death/MI to 6 months (r=0.224, p=0.023), respectively. The serum PTX3 concentration was not related to all-cause mortality in-hospital (r=0.112, p=0.269) and to 6 months (r=0.132, p=0.191), respectively. Among the parameters determining the GRACE risk scores, the degree of Killip class in congestive heart failure (CHF) was independently associated with the supramedian PTX3 concentration [odds ratio: 2.229 (95% confidence interval: 1.038-4.787), p=0.040].</P><P><B>Conclusion</B></P><P>The serum PTX3 level provides important information for the risk stratification of CHF among the parameters determining the GRACE risk scores in subjects with ACS.</P>
Causes and classification of male infertility in Korea
Lee, Hui Dai,Lee, Hyo Serk,Park, Se Hwan,Jo, Dae Gi,Choe, Jin Ho,Lee, Joong Shik,Seo, Ju Tae The Korean Society for Reproductive Medicine 2012 Clinical and Experimental Reproductive Medicine Vol.39 No.4
Objective: The aim of this study is to investigate the various causes of male infertility using multiple approaches. Methods: Nine-hundred-twenty infertile male patients were analyzed at their first visit with one physician between January 1 and December 31, 2009. All patients were subjected to physical examination and semen analysis and azoospermic patients underwent hormonal testing, chromosomal tests, and testicular biopsy. Semen analysis was based on the definition of the World Health Organization. Results: Among the 920 patients, 555 patients (60.3%) had semen results within the normal range, 269 patients (29.2%) within the abnormal range, and 96 (10.5%) were diagnosed with azoospermia. Varicoceles were diagnosed in 84 of the 555 normal-range patients (15.1%) and in 113 of the 269 abnormal-range patients (42.0%). Of the 96 patients with azoospermia, 24 patients (25%) were diagnosed with obstructive azoospermia, 68 patients (71%) with non-obstructive azoospermia, and 4 patients (4%) with retrograde ejaculation. Conclusion: Various causes of male infertility have been reported and diverse treatment methods can be adopted for each cause. In this regard, research must be conducted on a larger number of patients to accurately assess the various causes of infertility in Korean patients and to investigate various infertility treatment methods.
Change in Ischemia-Modified Albumin and Its Clinical Significance During Exercise Stress Testing
Lee, Dong-Hyeon,Jeon, Hui-Kyung,Park, Hun-Jun,Shin, Woo-Seung,Lee, Seung-Won,Youn, Ho-Joong,Kim, Chul-Min,Lee, Hae Kyung Japanese Circulation Society. 2010 CIRCULATION JOURNAL Vol.74 No.3
<P><B><I>Background:</I></B> There is little data about the additive effects of ischemia-modified albumin (IMA) on the exercise stress test (EST) used for the screening of ischemic heart disease. The relationship between myocardial ischemic burden and the change in IMA (ΔIMA) during EST was investigated. <B><I>Methods and Results:</I></B> EST was performed using the Bruce protocol to evaluate chest pain or exertional dyspnea in 155 patients (men 89, 53±13 years). Blood samples for IMA were obtained before and immediately after EST. According to the EST results and the pattern of ΔIMA, patients were categorized into 3 groups (none was classified as EST(-)/ΔIMA(+)): (1) (EST(-); (2) EST(+)/ΔIMA(-); and (3) EST(+)/ΔIMA(+). After EST, 60 of 155 (38.7%) patients were EST(+) and 14/60 (23.3%) were EST(+)/ΔIMA(+). Duke treadmill score was significantly lower in the EST(+)/ΔIMA(+) group compared with the other groups (-9.0±7.9, -1.7±4.2, 6.7±4.4, respectively, P<0.001); 43/60 (72%) patients with EST(+) underwent coronary angiography and the proportion of patients with a large ischemic burden was higher in the EST(+)/ΔIMA(+)group compared with the EST(+)/ΔIMA(-) group (72.7% vs 15.6%, P=0.001). <B><I>Conclusions:</I></B> Increased IMA after EST suggests a large ischemic burden in coronary artery disease, so the ΔIMA during EST may be useful for predicting the severity of myocardial ischemia. (<I>Circ J</I> 2010; <B>74:</B> 484 - 489)</P>
Lee, Sang-Woo,Lee, Hui Joong,Kim, Hye Jung,Lee, Jongmin,Park, Ji-Young,Kim, Seong Hun,Kim, Junghun Radiological Society of North America 2013 Radiology Vol.266 No.3
<P>To investigate the usefulness of the combined categorical reporting system of ultrasonography (US) and cytology results for thyroid nodules to suggest indications of repeat US-guided fine needle aspiration cytology (FNAC).</P>