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Pericentric Inversion of the X Chromosome in a Male with Azoospermia and in the Family of a Pregnant Female Carrier (무정자증을 보이는 남성과 정상 생식력을 가진 여성의 가계에서 관찰된 X 염색체의 Pericentric Inversion)

  • Lee, Bom-Yi;Ryu, Hyun-Mee;Lee, Moon-Hee;Park, Ju-Yeon;Kim, Jin-Woo;Lee, Joong-Shik;Kim, Hye-Ok;Kim, Min-Hyung;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.139-144
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    • 2008
  • We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year-old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of thepregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.

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A Clinical Study of Non-Accidental Intracranial Hemorrhage in Children (소아에서 사고에 의하지 않은 두개내 출혈의 임상적 고찰)

  • Huh, Kwon Hoe;Song, Keum Ho;Min, Ki Sik;Yoo, Ki Yang
    • Clinical and Experimental Pediatrics
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    • v.46 no.11
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    • pp.1067-1072
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    • 2003
  • Purpose : Non-accidental intracranial hemorrhage in children is not low in incidence and results in high mortality and serious sequelae. So, the authors have researched the distribution of sex and age, causes, symptoms and signs, hemorrhagic types, mortality rate and sequelae of the patients hospitalized with non-accidental intracranial hemorrhage at Hallym University Sacred Heart Hospital. Methods : The medical records of twenty patients, aged 15 or younger, and excluding neonatal patients, were analyzed retrospectively. The patients in this study were admitted with non-accidental intracranial hemorrhage from January 1999 to June 2002. Results : Of the twenty cases, the ratio of male to female was 1 : 0.8. The patients aged one or less and between 11 and 15 were discovered to be the most frequent cases. Shaken baby syndrome and arteriovenous malformation were found to be the most frequent causes. Seizure was most frequently found to be a symptom and a sign. Hemorrhagic type was classified into subdural hemorrhage eight, intracerebral hemorrhage five. There were three mortal cases. Twelve surviving patients, excluding five not-followed ones, were reclassified into six cases of complete recovery and six of sequalae. Conclusion : Non-accidental intracranial hemorrhage in children is not low in incidence, with a high mortality rate and a high incidence of serious sequelae after survival. Consequently, early diagnosis and appropriate treatment are required. In addition, appropriate rehabilitation after treatment is needed because the high survival rate due to advanced medical treatment results in an increasing number of neurologic sequelae.

Midwives' Perceptions of the Importance of Teaching the Lamaze Method of Childbirth Preparation, Their Practice of it and Inhibiting Factors. (조산사의 라마즈 산전교육에 대한 중요성 인식과 수행정도 및 저해요인에 관한 연구)

  • Yoon, Gui-Nam;Cho, Mi-Young
    • 모자간호학회지
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    • v.2 no.1
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    • pp.21-33
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    • 1992
  • This study was done to investigate how importantly midwives thought of Lamaze Method of Childbirth, how satisfactorily they performed their Lamaze Method of Childbirth and what inhibited their activities from being performed if not done satisfactorily. The subjects of this study were 76midwives at midwifery in Pusan, Deagu, Kyungnam and Kyungbok. Data were collected by using questionaire from Sep. 1 to Sep.30, 1991. The measurement tools was maded by the researcher based on Kim's scale for prenatal nursing activities. The statistical analysis was done with based statistical values likes frequencies, means, standard deviations and advanced methods such as Pearson's correlation coefficient, 1-test, F-test, F-test by using SPSS package program. The results of this study can be summarized as follows ; 1. The results of Investigating perception according to importance degree and performance degree of Lamaze Method of Childbring showed that midwives were slightly below both perception according to importance(2.17) and performance(2.16) of Lamaze Method of Childbirth 2. Inhibiting factors of Lamaze Method of Childbirth were abscence of husband(3.08), lack of teaching room(2.71), and lack of books or literature of Lamaze Method (2.58). 3. There appears to be a positive relation between perception according to importance degree and performance degree of Lamaze Method of Childbirth (r=0.69, P<0.01). There appears to be a negative relation between perception according to importance degree and inhibit factors of performance (r=-0.38, P<0.01). There appears to be a negative relation between performance and inhibit factors of performance (r=-0.22. P<0.01). 4. The item of highest perception defree in prenatal education is 1st, Consultation about sexual life (2.53), End, illustration of the importance of a bath and perinal cleanliness and Avoidance of excessive respiration method and also its comfortable application during uterine contractility(2.45). The item of lowest perception degree is about pregnant symptom sign and predicted date of birth (E.D.C.). On the other hand, The item of highest performance degree is education about nurtrition during pregnacy. 2nd, Illustration of the Importance of a bath and perineal cleanness(2.45). The lowest one is leaching the pregnant woman and her family about the role of husband and her family and also teaching the couple to learn exercise and respiration method (1.84). Though importance perception degree and performance degree is low. Midwives who wert subject in this research shoves that they perform general items concerning prenatal education well. 5. In the relationship between perception according to importance degree of Lamaze Method of Childbirth and the general characteristics of subjects, the differences in mean number of visiting pregnacies for 1 month. 6. In the relationship between performance degree of Lamaze Method of Childbirth and the general characteristics of subjects, the differences in age, marriage, and mean number of visiting pregnancies for 1 month. With the above information we see the importance of midwife prenatal care education and high correlation between performance degree and perception degree. When Lamaze prenatal education is well performed the number of pregnant woman who have follow-up, check-ups increase. Therefore in this research we can validity that there is a relation between Lamaze prenatal education and patient follow-up. This research showes in a situation where if one does not maximally perform a prenatal education there is a possibility that the popular use of midwife activities may encounter obstacles so the education to save new knowledge and training for prenatal education is needed as a function of Lamaze prenatal education, when a special Lamaze education is well performed for the pregnant woman, who follows-up at amidwife clinic. With the above conclusion we can suggest : 1. Continued research which minimized obstacles to Lamaze prenatal education is needed. 2. The official method of midwives is necessary.

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A Clinical Study on the Hypercalcemia in Primary Bronchogenic Carcinoma (고칼슘혈증을 동반한 원발성 폐암의 임상적 특징)

  • Park, Hye-Jung;Shin, Kyeong-Cheol;Moon, Young-Chul;Chung, Jin-Hong;Lee, Kwan-Ho;Sung, Cha-Kyung;Lee, Hyun-Woo
    • Journal of Yeungnam Medical Science
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    • v.16 no.2
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    • pp.208-218
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    • 1999
  • Background: Lung cancer-associated hypercalcemia is one of the most disabling and life-threatening paraneoplastic disorders. Humoral hypercalcemia is responsible for most lung cancer-associated hypercalcemia. Patients with hypercalcemia are usually in the advanced stage with obvious bulky tumor and carry a poor prognosis. Materials and Methods: Total 29 patients satisfied the following criteria: histologically proven primary lung cancer, corrected calcium level ${\geq}$ 10.5 mg/dL, and symptoms which could possibly be attributed to hypercalcemia. In this retrospective study, we evaluated the various clinical aspects of hypercalcemia, in relation to cancer stage, histologic cell type, mass size, bone metastasis, performance status, and other possible characteristics. Results: Total 29 lung cancer patients with hypercalcemia were studied, and most of them had squamous cell carcinoma in their histologic finding. The incidence of hypercalcemia was significantly higher between 50 and 69 years of age, and in the advancement of cancer stage. Although serum calcium level showed positive correlation with mass size, performance status, and bone metastasis, it was not significant statistically. Altered consciousness was significantly more frequent in the patients with higher serum calcium level. There were no differences in effectiveness among therapeutic regimens. Hypercalcemia was more frequently in the later stage of disease than during the initial diagnosis of lung cancer. Most of the patients died within 1 month after development of hypercalcemia. Conclusion: We concluded that hypercalcemia in lung cancer is related to extremely poor prognosis, and may be one of the causes of death and should be treated aggressively to prevent sudden deterioration or death.

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Physical Symptoms and Psychiatric, Social, Spiritual and Economical Care Needs of Patients under Home-based Cancer Service (재가암환자의 신체 증상들과 정신적, 사회적, 영적, 그리고 경제적 돌봄 요구도)

  • Kang, Myung Hee;Moon, Young Sil;Lee, Young Joon;Kang, Yoon Sik;Kim, Hoon Gu;Lee, Gyeong Won;Lee, Won Sup;Kang, Jung Hun
    • Journal of Hospice and Palliative Care
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    • v.17 no.4
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    • pp.216-222
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    • 2014
  • Purpose: This study was performed to identify the symptoms and care needs of home-based cancer patients in Korea and to add to the scarce literature on this topic. Methods: Data were collected from patients who subscribed to home-based cancer care services in Jinju. Assessments were performed by nurses at the local public health center. The Edmonton Symptom Assessment System with a numeric rating scale (NRS) was used to identify symptoms, and a four-point Likert scale was used to assess psychological, social, and spiritual needs. Results: Cross-sectional data were collected in October 2013. A total of 209 patients participated and their median age was 65 years (range, 17~89 years). Most patients were diagnosed in the early stage of cancer (n=188); only 19 patients were diagnosed in the advanced stage. More than half the patients lived alone (n=115, 55.0%) and took care of themselves (n=128, 61.2%). Anorexia and fatigue were the most common symptoms (median NRS, 5 and 4, respectively). Patients needed economic support the most, whereas spiritual care was least needed (n=138 [67.3%] vs. n=128 [62.1%], respectively). Conclusion: Patients who signed up for home-based cancer care services in Jinju are struggling with a financial issue and physical symptoms. A customized approach is needed to improve the quality of the home-based care services.

The Clinical Usefulness of Serum Aminotransferase Activities for Predicting Fatty Liver in Obese Children (비만아에서 지방간의 예측 인자로서 혈청 Aminotransferase의 임상적 유용성)

  • Lim, Seon-Woong;Jeon, Myeong-Won;Park, Sin-Ae;Choi, Kyeong-Dan
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.6 no.2
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    • pp.174-182
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    • 2003
  • Purpose: Non-alcoholic fatty liver disease (NAFLD) has been recognized as an important childhood liver disease, especially where the prevalence of childhood obesity is increasing. The purpose of this study is to clarify the usefulness of elevated serum aminotransferase activities and their ratio for predicting the presence of fatty liver and its severity in obese children. Methods: Forty-four children (M/F 29/15, age 4 to 16 years) with obesity (weight excess>20%) were analyzed retrospectively with medical records based on degree of obesity, bioelectrical impedence, serum aminotransferase activities, lipid profiles and ultrasonography. Results: 1) Ultrasonography was carried out in 34 cases. Elevated serum ALT was found in 89.7% (26/29) of the patients diagnosed as fatty liver by ultrasonography and decreased AST/ALT ratio (<1) was found in 96.6% (28/29). There was a strong correlation between elevated serum ALT (>45 IU/L) or decreased AST/ALT ratio (<1) and the fatty liver in obese children (p<0.05). 2) There was no significant correlation between the serum ALT or AST/ALT ratio and the degree of fatty liver (p>0.05). 3) There was a significant correlation between total cholesterol, triglyceride and fatty liver (p<0.05). Conclusion: Serum ALT activity and AST/ALT ratio were useful to predict the presence of fatty liver diagnosed by ultrasonography in obese children, whereas they were not useful to predict the degree of fatty liver. Therefore, to prevent fatty liver progressing to advanced liver disease, it is necessary to manage and monitor the obese children continuously, especially those who have predicting factors of fatty liver.

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Radiotherapy Results in Stage IIB Uterine Cervix Cancer (자궁경부암 병기 IIB의 방사선치료결과)

  • Kil Whoon Jong;Chun Mison;Kang Seunghee;Oh Young Taek;Ryu Hee Sug;Ju Hee Jae;Lee Eun Ju
    • Radiation Oncology Journal
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    • v.19 no.4
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    • pp.345-352
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    • 2001
  • Purpose : To evaluate the treatment results and prognostic factors after radiotherapy in stage IIB uterine cervix cancer. Materials and methods : We retrospectively analyzed the records of 90 patients with stage IIB uterine cervix cancer who received radiotherapy between 9/94 and 12/99. Age was ranged from 28 to 79 years (median 57). Tumor size was $\geq4\;cm$ in 64 patients. Preteatment SCC level was measured in 75 patients. Twenty nine patients received conventional radiotherapy (QD) and the others received modified hyper-fractionated radiotherapy (BID). Only 7 patients in BID had tumor size <4 cm. All patients received high dose rate brachytherapy $(4\;Gy\times7\;or\;5\;Gy\times6)$. No Patient received concurrent chemotherapy during radiotherapy. Follow up period was ranging from 9 to 76 months (median 38). Results : The 5-year overall and disease free survival rates were $73.4\%\;and\;71.6\%$, respectively. Local recurrences occurred in $10\%$ of patients, and distant metastasis in $18.9\%$. There was a significant correlation between OS/DFS and tumor size $(<4cm;\;OS\;95.2\%,\;DFS\;91.4\%,\;\geq4cm;\;OS\;63.4\%,\;DFS\;63.4\%)$. Pretreatment SCC level was one of prognostic factors only in univariate analysis. Conclusion : With modified hyperfractionated radiotherapy, there was very low local recurrence rate $(6.6\%)$ and high 5-year overall and disease free survival rate $(75.4\%\;and\;70.5\%)$, which is comparable to results after concurrent chemoradiotherapy in bulky, locally advanced stage IIB uterine cervix cancer.

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The Results of Radiation Therapy in Locally Advanced Non-Small Cell Lung Cancer (국소적으로 진행된 비소세포폐암의 방사선치료 성적)

  • Kim Mi Sook;Yoo Seoung Yul;Cho Chul Koo;Yoo Hyung Joon;Kim Jae Young;Shim Jae Won;Lee Choon Taek;Kang Yoon Koo;Kim Tae You
    • Radiation Oncology Journal
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    • v.15 no.3
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    • pp.233-241
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    • 1997
  • Purpose : This study was done to evaluate the survival rate and Prognostic factors of patients with inoperable non-small cell lung cancer(NSCLC) treated with radiation therapy. Materials and Methods A retrospective analysis was undertaken of 62 Patients who had inoperable NSCLC treated with radiation therapy from January 1991 through December 1993. According to AJCC slaging, stage IIIA was 14 patients and stage IIIB was 48 patients. Forty Gy to 70.2Gy to the primary tumor site was delivered with daily fractions of 1.8Gy or 2Gy, 5days per week. Thirty-seven patients received neoadjuvant chemotherapy. Results : Complete, partial and no response to radiation therapy were 3 patients, 34 Patients and 25 patients, respectively The median survival period of all patients was 11 month. One rear survival rate, 2 year survival rateand 5 rear survival rate for all patients were 45.0%, 14.3%, and 6.0% respectively The median survival period was 6.5 months in stage IIIA and 13 months in stage IIIB. One year survival rates were 28.6% in stage IIIA and 50.3% in stage IIIB In univariaite analysis, prognostic factors affecting survival were T-s1aging, AJCC staging, and response after radiation therapy (P<0.05) . Pretreatment peformance status affected survival but was not statistically significant (0.050.1). In multivariate analysis, Pathology and response to radiation therapy are independently significant prognostic factor. T stage was marginally significant (P=0.0809). During follow-up duration, distant metastasis developed in 20 patients-bone metastasis in 10 patients, brain metastasis in 3 patients, liver mentastasis in 3 patients, contralateral lung metastasis in 1 patients and multiple metastases in 3 patients. Conclusion : Conventional radiotherapy alone or combined chemoradiotherapy are unlikely to achieve long term survival in patients with NSCLC. Surgery after concurrent chemoradiotherapy is Ivied to improve the local control in our hospital

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Prevalence of Chronic Obstructive Pulmonary Disease in Korea: The Result of Forth Korean National Health and Nutrition Examination Survey

  • Hwang, Yong-Il;Yoo, Kwang-Ha;Sheen, Seung-Soo;Park, Joo-Hun;Kim, Sang-Ha;Yoon, Ho-Il;Lim, Sung-Chul;Lee, Shin-Yup;Park, Jae-Yong;Park, Seoung-Ju;Seo, Ki-Hyun;Kim, Ki-Uk;Lee, Sang-Yeub;Park, In-Won;Lee, Sang-Do;Kim, Se-Kyu;Kim, Young-Kyoon;Lee, Sang-Min;Han, Sung-Koo;Kim, Yu-Na;Cho, Yu-Mi;Park, Hye-Jin;Oh, Kyung-Won;Kim, Young-Sam;Oh, Yeon-Mok
    • Tuberculosis and Respiratory Diseases
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    • v.71 no.5
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    • pp.328-334
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    • 2011
  • Background: Chronic obstructive pulmonary disease (COPD) is a major cause of chronic morbidity and mortality throughout the world and is the only major disease that is continuing to increase in both prevalence and mortality. The second Korean National Health and Nutrition Survey revealed that the prevalence of COPD in Korean subjects aged ${\geq}45$ years was 17.2% in 2001. Further surveys on the prevalence of COPD were not available until 2007. Here, we report the prevalence of spirometrically detected COPD in Korea, using data from the fourth Korean National Health and Nutrition Survey (KNHANES IV) which was conducted in 2007~2009. Methods: Based on the Korean Statistical Office census that used nationwide stratified random sampling, 10,523 subjects aged ${\geq}40$ years underwent spirometry. Place of residence, levels of education, income, and smoking status, as well as other results from a COPD survey questionnaire were also assessed. Results: The prevalence of COPD (defined as forced expiratory volume in 1 sec/forced vital capacity <0.7 in subjects aged ${\geq}40$ years) was 12.9% (men, 18.7%; women, 7.5%). In total, 96.5% of patients with COPD had mild-to-moderate disease; only 2.5% had been diagnosed by physicians, and only 1.7% had been treated. The independent risk factors for COPD were smoking, advanced age, and male gender. Conclusion: The prevalence of COPD was 12.9% in the KNHANES IV data. Most patients with COPD were undiagnosed and untreated. Based on these results, a strategy for early COPD intervention is warranted in high risk subjects.

A Comparative Study of Stenting versus Surgical Bypass in Gastric Outlet Obstruction Caused by Gastric Cancer (위암 날문부 폐쇄 환자에게 시행한 치료의 비교고찰: 위-공장 우회술과 금속성 자가팽창성 스텐트 삽입술)

  • Jo, Seung-Jin;Yoon, Ki-Young;Choi, Kyung-Hyun;Park, Moo-In;Park, Seun-Ja;Ko, Ji-Ho;Lee, Sang-Ho
    • Journal of Gastric Cancer
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    • v.7 no.2
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    • pp.82-87
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    • 2007
  • Purpose: In gastric cancer patients with gastric outlet obstruction, there are several complications such as malnutrition and vomiting. Palliative enteral stenting is a less invasive procedure as compared with a gastrojejunostomy. The aim of this study was to determine whether there was a significant difference between patients that undergone palliative enteral slanting and patients that had received a bypass gastrojejunostomy. Materials and Methods: One hundred patients underwent palliative entering stenting and 3f patients were subjected to a surgical bypass gastrojejunostomy. We reviewed the medical records of the patients with gastric outlet obstruction secondary to far advanced gastric cancer that were diagnosed using a gastrofibroscope, UGI and abdominal CT, and were admitted to our institution between January 2000 and August 2006. The outcome of stent placement for gastric outlet obstruction was compared with palliative gastrojejunostomy during the same period. We excluded patients with recurrent gastric cancer and double cancer from this study. Results: There were significant differences between the group of patients that underwent slanting and the group of patients that received a gastrojejunostomy regarding the age of patients ($67{\pm}12$ vs. $57{\pm}9$, P<0.001) but not between the sex of the patients (M : F, 2 : 1 vs. 2 :1, P=0.637). The most common complication of stenting was tumor ingrowth (16/100, 16%) and the second most common complication was stent migration (14/100). Failure of the procedure occurred in only three patients. Twenty-three patients underwent re-slanting and one patient required open conversion with a gastrojejunostomy. The median time to the first meal was $4{\pm}2$ days in the stent group of patients and $6{\pm}2$ days in the gastrojejunostomy group of patients (P=0.001). The median postoperative hospital stays were 9 days in the stent group of patients and 15 days in the gastrojejunostomy group of patients (P=0.003). The mean survival periods were 11 months in the stent group of patients and 10 months in the gastrojejunostomy group of patients (P=0.937). Conclusion: There were no significant differences In the mean survival rates. An earlier first meal and a shorter hospitalization stay were found in the slanting group of patients compared to the bypass gastrojejunostomy group of patients. However, re-slanting was a concern due to tumor ingrowth and stent migration.

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