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Kallmann syndrome with a Tyr113His <i>PROKR2</i> mutation
Ha, Jeong-Ha,Lee, Sara,Kim, Youngmoon,Moon, Ji In,Seo, Jongkwon,Jang, Ja-Hyun,Cho, Eun-Hae,Kim, Jung Min,Rhee, Byoung Doo,Ko, Kyung Soo,Yoo, Soo Jin,Won, Jong Chul Williams & Wilkins Co 2017 Medicine Vol.96 No.35
<P><B>Abstract</B></P><P><B>Rational:</B></P><P>Kallmann syndrome (KS) is a genetic gonadotropin-releasing hormone deficiency associated with hyposmia or anosmia and characterized by various modes of inheritance.</P><P><B>Patient concerns:</B></P><P>A 16-year-old male did not reach puberty and was associated with hypogonadotropic hypogonadism and anosmia. His magnetic resonance imaging of brain revealed the absence of the olfactory bulb.</P><P><B>Diagnosis:</B></P><P>His karyotype was 46 XY. Sanger sequencing of the <I>KAL1</I> gene revealed no mutations. Diagnostic exome sequencing identified a prokineticin-receptor 2 (<I>PROKR2</I>) gene variant, c.337T > C (p.Tyr113His), previously reported to be a pathogenic mutation; we confirmed the presence of the mutation via Sanger sequencing of the coding exons of <I>PROKR2</I>. His apparently unaffected mother and sister, but not his father, were heterozygous for the <I>PROKR2</I> Tyr113His mutation.</P><P><B>Lessons:</B></P><P>This work advances our understanding of the role played by PROKR signaling and the mode of inheritance of the gene in patients with KS.</P>
The Effects of Fractions of Chick Embryo Extract on the Fusion of Cultured Chick Embryonic Myoblasts
Ha, Doo-Bong,Lee, Chung-Choo,Park, Young-Chul,Lim, Woon-Ki,Yoo, Byoung-Je The Korean Society for Integrative Biology 1985 동물학회지 Vol.28 No.3
In order to find factors which are essential for the differentiation of chick embryonic myoblasts in culture, chick embryo extract was fractionated by ammonium sulfate or/and Sephadex G-75, and the effects of each fraction on the proliferation and fusion of the myoblasts were examined. The results obtained were as follows: (1) High concentration of embryo extract in the culture medium enhanced the cell proliferation and delayed the fusion of myoblasts. (2) The Sephadex G-75 fractions of embryo extract having proteins of molecular weight between 40,000 and 22,000 enhanced the proliferation and fusion of myoblasts when added to culture media. (3) The fraction of embryo extract precipitated in $60\\sim95%$ saturated ammonium sulfate solution enhanced evidently both the proliferation and fusion of myoblasts. Elution of this effective fraction by Sephadex G-75 showed similar elution profile and effects on the myoblast differentiation as those observed by Sephadex G-75 chromatography of the whole embryo extract, suggesting that the Sephadex fractions and ammonium sulfate fractions contain the same factors that enhance the proliferation and fusion of myoblasts. 鷄胚의 筋原細胞의 증식과 融合에 미치는 계배 抽出液의 영향을 조사하였다. 1. 배양액내의 계배 추출액의 농도가 높을수록 근원세포의 증식은 촉진되었으며, 반면에 근원세포 융합은 지연되었다. 2. 계배 추출액의 단백질을 Sephadex G-75로 分劃하고, 각 분획을 근원세포의 배양액에 첨가한 결과 分子量 40,000과 22,000 dalton 사이의 분획이 근원세포의 증식과 융합을 촉진시켰다. 3. 계배 추출액의 단백질을 ammonium sulfate로 분획시켜 각 분획을 근원세포의 배양액에 첨가한 결과 70% 이상 포화 용액에서 침전하는 분획이 근원세포의 증식과 융합을 현저히 증가시켰다. 이 유효 분획을 Sephadex G-75로 재차 분획하여 각 분획의 효과를 조사한 결과 근원세포의 증식과 융합을 촉진시키는 분획이 계배 추출액을 Sephadex G-75로 분획하여 얻은 유효 분획과 거의 동일한 효과를 나타내었다.
( Ha Jeong Kim ),( Tae Joong Kim ),( Jin Young Park ),( Aera Yoon ),( Eun Ju Jo ),( Yoo Young Lee ),( Chel Hun Choi ),( Jeong Won Lee ),( Duk Sioo Bae ),( Byoung Gie Kim ) 대한산부인과학회 2012 대한산부인과학회 학술대회 Vol.98 No.-
This study was designed to compare the survival outcomes of patients with UPSC or CC to those of patients with G3EC according to the old and revised FIGO staging systems. We retrospectively reviewed all patients with endometrial cancer treated at a single institution between 1995 and 2009. Among the 647 patients with endometrial cancer, 51 with G3EC and 46 with UPSC/ CC histology were confirmed. FIGO 88 stage, FIGO 09 stage, and extrauterine metastasis were significantly different between the UPSC/CC and G3EC groups (p=0.002, p=0.041 and p=0.002, respectively). Restaging from the FIGO 88 to the FIGO 09 criteria increased the number of stage I cases by 10 (11.0%). Overall, 8 patients in the UPSC/CC group were down-staged to stage I, and 2 patients in G3EC were down-staged to stage I. The 5-year overall survival (OS) was 45.0% vs. 72.6% (p=0.038), and progression-free survival (PFS) was 58.7% vs. 77.8% (p=0.035) in the UPSC/CC and G3EC groups, respectively. In univariate analysis, a histologic type of UPSC/CC, a FIGO 09 stage of III-IV, and positivity for LVSI were negatively associated with PFS, as well as with OS. In multivariable analysis, UPSC/CC cell type, a FIGO 09 stage of III-IV, and LVSI were independent factors for OS. We observed that UPSC and CC histotypes might entail a worse survival outcome than G3EC in the 2009 FIGO staging system.
Synthesis of Muscle Proteins During the Differentiation of Cultured Chicken Pectoralis Muscle Cells
Ha, Doo-Bong,Im, Wook-Bin,Yoo, Byoung-Je The Korean Society for Integrative Biology 1981 동물학회지 Vol.24 No.4
근세포의 분화에 있어서의 근특이 단백질의 합성 순서를 구명하기 위하여 계배 근세포를 2$\\sim$9일간 배양하면서 단백질합성야상을 SDS-polyacrylamide 겔전기 영동법, 등전점초점2차원 전기영동법 및 방사자기법으로 분석하였다. Actin은 분화의 초기부터 활발히 합성되어 그 양이 다량으로 축적되나, myosin은 배양 3일째부터 대량 합성되기 시작하였다. Myosin의 대량합성시기는 배양 근원세포가 융합을 활발히 일으키는 시기와 거의 같았다. Myoglobin은 분화초기부터 서서히 합성축적되기 시작하여 배양 5일에서 최대치에 달하였다. Creatine phosphokinase는 배양 3일만에, 그리고 glyceraldehyde dehydrogenase는 6일만에 전기영동상에 검출되었다. Tropomyosin $\\alpha$와 $\\beta$, 그리고 troponin C는 분화초기부터 비교적 다량 합성되고 있었다. 젖산탈수소효소의 활성은 배양 2$\\sim$5일 사이에서 급격히 증가하고 이후 거의 변화가 없었다. 이 효소의 동위효소 조성은 초기 근원세포에서는 $H_4$와 $H_3M$형이 많으나 분화가 진행됨에 따라 $HM_3 와 M_4$형이 서서히 출현하였다. 그리고 배양 5일만에 5종의 동위효소가 모두 검출되었다.
Film Session Q&A 2 : Laparoscopic removal of a chronically retained gauze
( Ha Jeong Kim ),( Jin Young Park ),( Aera Yoon ),( Yoo Young Lee ),( Chel Hun Choi ),( Tae Joong Kim ),( Jeong Won Lee ),( Byoung Gie Kim ),( Duk Soo Bae ) 대한산부인과학회 2012 대한산부인과학회 학술대회 Vol.98 No.-
Term of gossypiboma (textiloma, cottonoid, gauzoma, and muslinoma) is used to describe a retained surgical pad or gauze in the body after an operation. Retained postoperative foreign bodies, of which sponges are the most common, is a preventable condition and almost always iatrogenic. Gossypiboma may present acutely or subacutely and sometimes it may be symptom free. We present a case of abdominal gossypiboma 20 years after an appendectomy. A 44-year-old woman presented with irritability, abdominal discomfort. A forgotten surgical gauze in the left side of the pelvis was seen on abdomen-pelvis x-ray. She had a past history of acute appendicitis operated on 20 years earlier and had vague abdominal discomfort and anorexia after the operation. Computed tomography scan revealed a foreign body measured 6.2 cm with heterogeneous internal structure in the left iliac fossa that had been surrounded by the small intestine and the colon. Laparoscopy was done with a 12-mm suprapubic port and three 5-mm ports in the left, right lower quadrants and infra-umbilical areas. The small bowel loops adhered to the gauze, which together made up a mass. Using sharp dissection, bowel loops were carefully separated. The gauze had decomposed into a semi-liquid material consisting of hundreds of small particles and could not be removed in one piece; a basket was used.
( Yoo Jin Lee ),( Yu Jin Ha ),( Yu Na Kang ),( Koo Jeong Kang ),( Woo Jin Chung ),( Jae Seok Hwang ),( Byoung Kuk Jang ) 대한간학회 2013 춘·추계 학술대회 (KASL) Vol.2013 No.1
Patients and methods: Expression of autophagy related markers (LC3 and Beclin 1) and ER stress related markers (GRP78 and CHOP) were analyzed by immunohistochemistry on tissues from completely resected specimens of 190 HCC patients. Their influence on clinicopathologic features and prognosis were evaluated using Chi-square test and Kaplan-Meier analysis. Correlations of each proteins were determined by Spearman`s correlation analysis. Results: Expression of LC3 was not correlated with TNM, BCLC stage or Edmonson-Steiner grading, whereas, had correlation with longer overall survival (OS) (P=0.039) and longer disease free survival (DFS) (P=0.068) by Kaplan-Meier analysis. Multivariate analysis indicated that LC3 expression was significantly independent prognostic factors of OS (OR, 0.379; 95% CI, 0.192-0.748; P-value=0.005) and DFS (OR, 0.520; 95% CI, 0.299-0.843; P-value=0.009). Positive correlation was not observed in the expression of autophagy related markers with ER stress related markers. Conclusions: Our study showed that expression of LC3 was correlated with overall survival and disease free survival regardless of tumor staging or liver function state. These results suggest that expression and extent of LC3 might be a strong prognostic factor of HCC.
Customized Asthma Control Test with Reflection on Sociocultural Differences
Yoo, Kwang-Ha,Jeong, Jae-Won,Yoon, Ho-Joo,Chang, Suk-Il,Moon, Hee-Bom,Choi, Byoung-Hwui,Kim, You-Young,Cho, Sang-Heon The Korean Academy of Medical Sciences 2010 JOURNAL OF KOREAN MEDICAL SCIENCE Vol.25 No.8
<P>We evaluated the utility and feasibility of customizing Asthma Control Test (ACT) items to generate a Korean Asthma Control Test (KACT) specific for Korean patients. We surveyed 392 asthma patients with 19 items, selected to reflect the Korean sociocultural context. Guideline ratings were integrated with the evaluations of specialists (i.e., using both guide base rating together with specialist's rating), and items with the greatest discriminating validity were identified. Stepwise regression methods were used to select items. KACT scale scores showed significant differences between the asthma control ratings generated by integrating ratings (r=0.77, <I>P</I><0.001), by specialist's evaluations (r=0.54, <I>P</I><0.001), or by FEV<SUB>1</SUB> percent predicted (r=0.39, <I>P</I><0.001). Specialist's and guideline ratings detected 56% and 48.6% of patients with well-controlled asthma, respectively. However, the integrated ratings indicated that only 34.3% of the patients in the test sample were well controlled. The overall agreement between KACT and the integrated rating ranged from 45% to 78%, depending on the cut-off points used. It is possible to formulate a valid, useful country-specific diagnostic tool for the assessment of asthma patients based on the original ACT that reflect differences in sociocultural context.</P>