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Chronic Hereditary Tyrosinemia Type I with Novel Mutation in FAH Gene (FAH gene novel mutation을 가진 만성형 Hereditary tyrosinemia 1형)

  • Yang, Sungmin;Choi, Hyo Won;Kang, Yun Koo;Lee, Jin-Sung;Namgoong, Mee Kyung
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.20 no.2
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    • pp.55-62
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    • 2020
  • A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

Result of a Long-Term Follow-Up of Arthroscopic Partial Repair for Massive Irreparable Rotator Cuff Tears Using a Biceps Long Head Auto Graft (봉합 불가능한 광범위 회전근 개 파열에서 상완 이두근 건 장두를 이용한 관절경하 부분 봉합술의 장기 추적 관찰 결과)

  • Ko, Sang-Hun;Park, Ki-Bong;Park, Gil-Young;Kwon, Sun-Hwan;Kim, Myung-Seo;Park, Sun-Jae
    • Journal of the Korean Orthopaedic Association
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    • v.55 no.2
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    • pp.135-142
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    • 2020
  • Purpose: This paper presents the long term follow-up results of arthroscopic partial repair for massive irreparable rotator cuff tears using a biceps long head auto graft. Materials and Methods: Forty-one patients with massive irreparable rotator cuff tear, who underwent arthroscopic repair, were reviewed retrospectively. Patients who underwent arthroscopic partial repair using a biceps long head auto graft were assigned to group 1, and patients in group 2 underwent arthroscopic partial repair alone. Patients with a less than 50% partial tear of the long head biceps tendon were included in this study. The clinical scores were measured using a visual analogue pain scale (VAS) for pain, range of motion (ROM), The University of California, Los Angeles shoulder score (UCLA), American Shoulder and Elbow Surgeons Shoulder Score (ASES), and Korean Shoulder Scoring System (KSS) scores preoperatively and at the final follow-up. The acromiohumeral interval (AHI) was measured using plain radiographs taken preoperatively and at the final follow-up, and re-tear was evaluated using postoperative ultrasound or magnetic resonance imaging at the last follow-up. Results: The mean age of the patients was 62.1±12.7 years, and the mean follow-up period was 90.3±16.8 months. No significant differences in the VAS and ROM (forward flexion, external rotation, internal rotation) were found between the two groups (p=0.179, p=0.129, p=0.098, p=0.155, respectively). The UCLA (p=0.041), ASES (p=0.023), and KSS (p=0.019) scores showed functional improvements in group 1 compared to group 2. At the last follow-up, the measured AHI values were 9.46±0.41 mm and 6.86±0.64 mm in group 1 and 2, respectively (p=0.032). Re-tear was observed in six out of 21 cases (28.6%) in group 1 and nine out of 20 cases (45.0%) in group 2; the retear rate was significantly lower in group 1 than in group 2 (p=0.011). Conclusion: Arthroscopic partial repair for a massive irreparable rotator cuff tear using a biceps long head auto graft has significant clinical usefulness in functional recovery and decreases the re-tear rates after surgery than arthroscopic partial repair alone, showing favorable results after a long-term follow-up.

Quantitative Assessment of Coronary Artery Diameter in Patients with Atrial Fibrillation and Normal Sinus Rhythm (심방세동 환자와 정상 심전도 환자의 관상동맥 직경 정량적 평가)

  • Seo, Young-Hyun
    • Journal of the Korean Society of Radiology
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    • v.16 no.5
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    • pp.567-574
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    • 2022
  • Coronary artery disease (CAD) and atrial fibrillation (AF) are known to share many risk factors. In particular, in the case of acute coronary syndrome, it may be difficult to clearly determine the diameter of the vessel due to complete occlusion of the vessel and thrombus. Thus, the relationship between the diameter of the coronary arteries was evaluated to be used as a reference data before the treatment of coronary arteries and drug selection in patients with AF. From January 2020 to August 2022, images of coronary angiography (CAG) with AF and normal sinus rhythm (NSR) on electrocardiography were target. In both subjects, images of normal coronary artery without lesions as a result of CAG were used. For all vessels, the diameters of the vessels were measured by dividing them into proximal, middle, and distal parts, and the measured diameters were divided by the average for evaluation. As a result of analyzing the left anterior descending artery diameter, the vessel diameter of the AF patient was 2.24±0.26 mm, which was smaller than that of the NSR patient, 2.86±0.38 mm, and was statistically significant. (p<0.001) As a result of analyzing the left circumflex artery diameter, the vessel diameter of the AF patient was 2.34±0.28 mm, which was smaller than the vessel diameter of the NSR patient, 2.87±0.29 mm, and was statistically significant. (p<0.001) As a result of analyzing the diameter of the right coronary artery, the vessel diameter of the AF patient was 2.68±0.5 mm, which was smaller than the vessel diameter of the NSR patient, 3.35±0.4 mm, and was statistically significant. (p<0.001) Considering that the coronary artery size of AF patients is significantly smaller than the coronary vessel size of NSR patients, it is considered as a useful study to be used as a reference for evaluating coronary artery diameter when the arrhythmia is AF. In particular, it is considered to be a study that can be helpful in diagnosing lesions, using drugs before and after surgery, and choosing to use auxiliary devices such as intravascular ultrasound.

Bone Density and Related Factors of Vegetarian and Non-vegetarian University Students in Seoul Area (서울지역 채식.비채식 대학생의 골밀도에 미치는 영향요인에 관한 연구)

  • Chung, Nam-Yong;Choi, Soon-Nam
    • Journal of the Korean Society of Food Culture
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    • v.21 no.1
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    • pp.86-98
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    • 2006
  • This study was conducted to investigate factors affecting bone density of food and nutrition vegetarian and non-vegetarian university students in Seoul area. Data for food habits, dietary and health-related behaviors were obtained by self administered questionnaires. BQI(bone quality index) of the subjects was measured by an Quantitative Ultrasound (QUS). The results are summarized as follows: The average height, weight, BMI and osteopenia percentage of the vegetarian and non-vegetarian male and female student were 172.61cm, 62.42kg, 20.98 and 24.2%; 175.38cm, 72.52kg, 23.71 and 16.7%; 160.47cm, 55.76kg, 21.66 and 55.9%; 161.77cm, 56.34kg, 21.53 and 37.6%, respectively. The BQI of the subjects were 101.73 and 107.43 in male student group, and 84.15, 89.64 in female student group, respectively. The BQI, Z-score value of bone density was significantly different in female group. Weight and BMI were positively related with BQI in male and female group. BQI was positively affected by nutrition supplement and negatively affected by seafood in vegetarian male student group. In vegetarian female student group, amount of meal was positively related with BQI and meal regularity was negatively related BQI. The result of this study revealed that the desirable food habits, dietary behaviors and health-related lifestyles may have a beneficial effect on bone density. They should have practically and systematically organized nutritional education on optimum body weight, good eating habits, weight bearing exercise and intakes of good quality nutrient for higher bone density level.

A study of analytical method for Benzo[a]pyrene in edible oils (식용유지 중 벤조피렌 분석법 비교 연구)

  • Min-Jeong Kim;jun-Young Park;Min-Ju Kim;Eun-Young Jo;Mi-Young Park;Nan-Sook Han;Sook-Nam Hwang
    • Analytical Science and Technology
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    • v.36 no.6
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    • pp.291-299
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    • 2023
  • The benzo[a]pyrene in edible oils is extracted using methods such as Liquid-liquid, soxhlet and ultrasound-assisted extraction. However these extraction methods have significant drawbacks, such as long extraction time and large amount of solvent usage. To overcome these drawbacks, this study attempted to improve the current complex benzo[a]pyrene analysis method by applying the QuEChERS (Quick, Easy, Cheap, Effective, Rugged and Safe) method that can be analyzed in a simple and short time. The QuEChERS method applied in this study includes extraction of benzo[a]pyrene into n-hexane saturated acetonitrile and n-hexane. After extraction and distribution using magnesium sulfate and sodium chloride, benzo[a]pyrene is analyzed by liquid chromatography with fluorescence detector (LC/FLR). As a result of method validation of the new method, the limit of detection (LOD) and quantification (LOQ) were 0.02 ㎍/kg and 0.05 ㎍/kg, respectively. The calibration curves were constructed using five levels (0.1~10 ㎍/kg) and coefficient (R2) was above 0.99. Mean recovery ratio was ranged from 74.5 to 79.3 % with a relative standard deviation (RSD) between 0.52 to 1.58 %. The accuracy and precision were 72.6~79.4 % and 0.14~7.20 %, respectively. All results satisfied the criteria ranges requested in the Food Safety Evaluation Department guidelines (2016) and AOAC official method of analysis (2023). Therefore, the analysis method presented in this study was a relatively simple pretreatment method compared to the existing analysis method, which reduced the analysis time and solvent use to 92 % and 96 %, respectively.

Development of deep learning network based low-quality image enhancement techniques for improving foreign object detection performance (이물 객체 탐지 성능 개선을 위한 딥러닝 네트워크 기반 저품질 영상 개선 기법 개발)

  • Ki-Yeol Eom;Byeong-Seok Min
    • Journal of Internet Computing and Services
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    • v.25 no.1
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    • pp.99-107
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    • 2024
  • Along with economic growth and industrial development, there is an increasing demand for various electronic components and device production of semiconductor, SMT component, and electrical battery products. However, these products may contain foreign substances coming from manufacturing process such as iron, aluminum, plastic and so on, which could lead to serious problems or malfunctioning of the product, and fire on the electric vehicle. To solve these problems, it is necessary to determine whether there are foreign materials inside the product, and may tests have been done by means of non-destructive testing methodology such as ultrasound ot X-ray. Nevertheless, there are technical challenges and limitation in acquiring X-ray images and determining the presence of foreign materials. In particular Small-sized or low-density foreign materials may not be visible even when X-ray equipment is used, and noise can also make it difficult to detect foreign objects. Moreover, in order to meet the manufacturing speed requirement, the x-ray acquisition time should be reduced, which can result in the very low signal- to-noise ratio(SNR) lowering the foreign material detection accuracy. Therefore, in this paper, we propose a five-step approach to overcome the limitations of low resolution, which make it challenging to detect foreign substances. Firstly, global contrast of X-ray images are increased through histogram stretching methodology. Second, to strengthen the high frequency signal and local contrast, we applied local contrast enhancement technique. Third, to improve the edge clearness, Unsharp masking is applied to enhance edges, making objects more visible. Forth, the super-resolution method of the Residual Dense Block (RDB) is used for noise reduction and image enhancement. Last, the Yolov5 algorithm is employed to train and detect foreign objects after learning. Using the proposed method in this study, experimental results show an improvement of more than 10% in performance metrics such as precision compared to low-density images.

Evaluation of Sodium Intake and Relationship between Sodium Intake and the Bone Mineral Density of Female University Students (중부 지역 여대생에서 음식섭취빈도조사지를 이용한 나트륨 섭취량 평가 및 나트륨 섭취와 골밀도와의 관련성 조사)

  • Bae, Yun-Jung;Yeon, Jee-Young
    • Journal of the East Asian Society of Dietary Life
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    • v.21 no.5
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    • pp.625-636
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    • 2011
  • The purpose of this study was to evaluate the relationship between bone health and sodium intake in female university students using a dish frequency questionnaire (DFQ 125), anthropometric checkups, food records for 3 days, and ultrasound measurement of calcaneus bone mineral density. Subjects were divided into two groups: normal (n=196) and osteopenia (n=52). There were no significant differences in age or height between the two groups. The average weight, body mass index, and body fat in the normal group were significantly higher than in the osteopenia group. The sodium intake of DFQ was positively correlated with the sodium intake of 3 days of dietary records (p=0.0003). There were no significant differences in the sodium intake between the two groups from DFQ. The dishes were ranked by sodium intake: kimchies were 17.68%, noodles and mandu were 16.36%, stews were 13.69%, main dishes such as meat, egg, and beans were 11.47%, and fish and shellfish were 11.07%. The frequency of eating noodles and mandu (p=0.0116), stews (p=0.0008), kimchies (p=0.0482), fish and shellfish (p=0.0362), vegetables (p=0.0064) and seasoning (p=0.0347) were negatively associated with bone mineral density. Bone health was not significantly different with increasing quartiles of sodium intake. As excessive sodium intakes may indirectly affect bone mineral density, these results suggest that to prevent osteoporosis, university students needed to be more educated about diets containing less sodium through nutrition education programs.

Clinical Usefulness of Implanted Fiducial Markers for Hypofractionated Radiotherapy of Prostate Cancer (전립선암의 소분할 방사선치료 시에 위치표지자 삽입의 유용성)

  • Choi, Young-Min;Ahn, Sung-Hwan;Lee, Hyung-Sik;Hur, Won-Joo;Yoon, Jin-Han;Kim, Tae-Hyo;Kim, Soo-Dong;Yun, Seong-Guk
    • Radiation Oncology Journal
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    • v.29 no.2
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    • pp.91-98
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    • 2011
  • Purpose: To assess the usefulness of implanted fiducial markers in the setup of hypofractionated radiotherapy for prostate cancer patients by comparing a fiducial marker matched setup with a pelvic bone match. Materials and Methods: Four prostate cancer patients treated with definitive hypofractionated radiotherapy between September 2009 and August 2010 were enrolled in this study. Three gold fiducial markers were implanted into the prostate and through the rectum under ultrasound guidance around a week before radiotherapy. Glycerin enemas were given prior to each radiotherapy planning CT and every radiotherapy session. Hypofractionated radiotherapy was planned for a total dose of 59.5 Gy in daily 3.5 Gy with using the Novalis system. Orthogonal kV X-rays were taken before radiotherapy. Treatment positions were adjusted according to the results from the fusion of the fiducial markers on digitally reconstructed radiographs of a radiotherapy plan with those on orthogonal kV X-rays. When the difference in the coordinates from the fiducial marker fusion was less than 1 mm, the patient position was approved for radiotherapy. A virtual bone matching was carried out at the fiducial marker matched position, and then a setup difference between the fiducial marker matching and bone matching was evaluated. Results: Three patients received a planned 17-fractionated radiotherapy and the rest underwent 16 fractionations. The setup error of the fiducial marker matching was $0.94{\pm}0.62$ mm (range, 0.09 to 3.01 mm; median, 0.81 mm), and the means of the lateral, craniocaudal, and anteroposterior errors were $0.39{\pm}0.34$ mm, $0.46{\pm}0.34$ mm, and $0.57{\pm}0.59$ mm, respectively. The setup error of the pelvic bony matching was $3.15{\pm}2.03$ mm (range, 0.25 to 8.23 mm; median, 2.95 mm), and the error of craniocaudal direction ($2.29{\pm}1.95$ mm) was significantly larger than those of anteroposterior ($1.73{\pm}1.31$ mm) and lateral directions ($0.45{\pm}0.37$ mm), respectively (p<0.05). Incidences of over 3 mm and 5 mm in setup difference among the fractionations were 1.5% and 0% in the fiducial marker matching, respectively, and 49.3% and 17.9% in the pelvic bone matching, respectively. Conclusion: The more precise setup of hypofractionated radiotherapy for prostate cancer patients is feasible with the implanted fiducial marker matching compared with the pelvic bony matching. Therefore, a less marginal expansion of planning target volume produces less radiation exposure to adjacent normal tissues, which could ultimately make hypofractionated radiotherapy safer.

Bone Density and Related Factors of Food and Nutrition Major and Non-Major University Students in Seoul Area (서울지역 식품영양전공.비전공대학생의 골밀도에 미치는 영향요인에 관한 연구)

  • 정남용;최순남
    • Journal of the East Asian Society of Dietary Life
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    • v.13 no.5
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    • pp.391-407
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    • 2003
  • This study was conducted to investigate the factors affecting the born density of food and nutrition major and non-major university students in Seoul area. Data for food habits, dietary and health-related behavior were obtained by self administered questionnaires. BQI(bone quality index) of the subjects were measured by Quantitative Ultrasound (QUS). The results are summarized as follows: The average height, weight, BMI and osteopenia percentage of the major and non-major male and female student were l74.49cm, 67.05kg, 21.96 and 22.0%; l74.34cm, 65.98kg, 21.69 and 11.8%; l60.76cm, 54.48kg, 21.07 and 40.0%; l61.30cm, 54.22kg, 20.84 and 40.2%, respectively. The BQI of the major and non-major subjects were 108.07 and 110.47 in male student group, and 89.13, 88.18 in female student group, respectively. The T-score and Z-score of bone density of the subjects were not significantly different. Weight and BMI were positively related with BQI in male and female group but the relationship with BMI tended to be stronger in non-major female group than other groups. BQI was positively affected by exercise time, favorite food, and intake of seafood and tea in major and non-major male student group. One-side eating habit and intake of instant foods were negatively related with BQI in both male groups. In major and non-major female student group, exercise time, meal regularity, favorite food, amount of meal, intake of tofu were related with BQI positively and intake of tea and/or meats negatively. The result of this study revealed that desirable food habits, dietary behavior and health-related lifestyle may have a beneficial effect on bone density. They need practically and systematically organized nutrition education on optimum body weight, good eating habits, weight bearing exercise and intakes of good quality nutrient for higher bone density level.

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Factors Affecting Pregnancy Rates on Transfer of Pronuclear Microinjected Embryos in Korean Black Goats (전핵 미세 주입법으로 생산된 한국흑염소 수정란의 이식 조건이 수태율에 미치는 영향)

  • Choi, Y.S.;Shin, H.G.;Jang, S.K.;Yang, H.S.;Lee, O.K.;Lee, D.S.;Cho, J.K.;Shin, S.T.
    • Journal of Embryo Transfer
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    • v.22 no.1
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    • pp.53-61
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    • 2007
  • This study was investigated factors affecting the pregnancy rates after transfer of pronuclear microinjected embryos for the production of transgenic Korean black goats. Embryo transfer was carried out in 343 recipient Korean black goats from September 1999 to June 2000. Estrus was induced by the insertion of intravaginal progesterone devices $CIDR^(R)$ for 2 weeks. A single injection of 400 IU equine chorionic gonadotropin was administered at 48h before $CIDR^(R)$ removal to increase the proportion of does cycling and ovulation rate. Good quality embryos were prepared by microinjection of DNA into the pronuclei of fertilized goat oocyte and cultured in vitro. Pronuclear microinjected $1{\sim}8$ cell stage embryos were surgically transferred into the oviducts of the recipient at day 4 or 5 following $CIDR^(R)$ removal, and morula to blastocyst stage embryos were surgically transferred into uterus at day 9. Pregnancy was diagnosed by transrectal ultrasound scanning at $20{\sim}30d$ and 8 weeks following embryo transfer. The pregnancy rate was affected by several factors, such as estrus induction, the number of previous transfer, transfer site, stage of CL (corpus luteum), the number of recipient CL, stage of embryos and the number of transferred embryo. The pregnancy rate was significantly higher in recipients that came into estrus naturally than recipients that induced to come into estrus with $CIDR^(R)$(59.1% vs. 36.8%; P<0.05). The pregnancy rate was higher when the embryos were transferred into the left oviduct than transferred into the right oviduct (42.9% vs. 35.3%; P<0.05). The pregnancy rate of recipients with $CH_1$ (early) stage corpus hemorrhagicum in ovary was hi틴or than recipient with $CH_3$ (late) stage hemorrhagicum (47.5% vs. 17.9%; P<0.01). Higher pregnancy rates were obtained by transfer of 1-cell stage embryos into oviduct while late blastocysts (51.6% vs. 66.7%; P<0.01) into uterus. The pregnancy rates when 3 embryos were transferred to recipients were significantly higher than when 2 embryos we.e transferred (47.6% vs. 27.0%; P<0.05). Although there were no significant difference among the group, adhesion of reproductive organs, uterine size, ovulation rate of recipients, presence of large follicle and difficulty of transfer affected pregnancy rate of recipient. Higher pregnancy rates were obtained in the recipients with $8{\sim}15m$ diameter uterine horn as compared to the recipients with <5m diameter or >20mm diameter uterine hem (38.9%, 20% vs. 18.2%), in the recipients with large follicle in the ovulated ovary ipsilaterally (53.6% vs. 37.1%) and in the transfer which was carried out easily (39.2% vs. 27.8%, 0%). In conclusion, the high rate of pregnancy was achieved following transfer of pronuclear microinjected embryos when three or four 1-cell stage embryos were transferred into oviduct with $CH_1$ stage corpus hemorrhagicum in the ovary of recipient which came into estrus naturally.