1.Colorectal cancer with a germline BRCA1 variant inherited paternally: a case report
Kyoung Min KIM ; Min Ro LEE ; Ae Ri AHN ; Myoung Ja CHUNG
Journal of Pathology and Translational Medicine 2024;58(6):341-345
BRCA genes have well-known associations with breast and ovarian cancers. However, variations in the BRCA gene, especially germline variations, have also been reported in colorectal cancer (CRC). We present the case of a rectal cancer with a germline BRCA1 variation inherited from the paternal side. A 39-year-old male was admitted with rectal cancer. The patient underwent surgical resection and the pathologic diagnosis was adenocarcinoma. Next-generation sequencing was performed and a BRCA1 variant was detected. Reviewing the public database and considering the young age of the patient, the variant was suggested to be germline. The patient’s father had had prostate cancer and next-generation sequencing testing revealed an identical BRCA1 variant. In the BRCA cancer group, there is relatively little attention paid to male cancers. The accumulation of male CRC cases linked to BRCA variations may help clarify the potential pathological relationship between the two.
2.Colorectal cancer with a germline BRCA1 variant inherited paternally: a case report
Kyoung Min KIM ; Min Ro LEE ; Ae Ri AHN ; Myoung Ja CHUNG
Journal of Pathology and Translational Medicine 2024;58(6):341-345
BRCA genes have well-known associations with breast and ovarian cancers. However, variations in the BRCA gene, especially germline variations, have also been reported in colorectal cancer (CRC). We present the case of a rectal cancer with a germline BRCA1 variation inherited from the paternal side. A 39-year-old male was admitted with rectal cancer. The patient underwent surgical resection and the pathologic diagnosis was adenocarcinoma. Next-generation sequencing was performed and a BRCA1 variant was detected. Reviewing the public database and considering the young age of the patient, the variant was suggested to be germline. The patient’s father had had prostate cancer and next-generation sequencing testing revealed an identical BRCA1 variant. In the BRCA cancer group, there is relatively little attention paid to male cancers. The accumulation of male CRC cases linked to BRCA variations may help clarify the potential pathological relationship between the two.
3.Colorectal cancer with a germline BRCA1 variant inherited paternally: a case report
Kyoung Min KIM ; Min Ro LEE ; Ae Ri AHN ; Myoung Ja CHUNG
Journal of Pathology and Translational Medicine 2024;58(6):341-345
BRCA genes have well-known associations with breast and ovarian cancers. However, variations in the BRCA gene, especially germline variations, have also been reported in colorectal cancer (CRC). We present the case of a rectal cancer with a germline BRCA1 variation inherited from the paternal side. A 39-year-old male was admitted with rectal cancer. The patient underwent surgical resection and the pathologic diagnosis was adenocarcinoma. Next-generation sequencing was performed and a BRCA1 variant was detected. Reviewing the public database and considering the young age of the patient, the variant was suggested to be germline. The patient’s father had had prostate cancer and next-generation sequencing testing revealed an identical BRCA1 variant. In the BRCA cancer group, there is relatively little attention paid to male cancers. The accumulation of male CRC cases linked to BRCA variations may help clarify the potential pathological relationship between the two.
4.A novel kit for enrichment of fecal helminth eggs
Eunsol LEE ; Seon-Ok BACK ; Young-Ju LEE ; Jung-Won JU ; Hee-Il LEE ; Myoung-Ro LEE
Parasites, Hosts and Diseases 2024;62(3):323-329
We developed a new concentration kit, called the ParaEgg (PE), for easy detection trematode eggs from fecal samples in endemic areas of clonorchiasis and metagonimiasis in Korea. To create a standard of detection efficiency, 120 fecal samples were examined using the water–ether concentration method (WECM). The PE kit and Mini ParaSep (PS) kit were used to compare the detection sensitivity of 100 egg-positive and 20 egg-negative samples in WECM. Additionally, stool samples, which were intentionally spiked with 10, 20, and 30 Clonorchis sinensis eggs, were evaluated to assess the sensitivity in lowinfection cases. The PE and PS kits showed detection rates of 100% and 92%, respectively, from 100 egg-positive samples in WECM. Meanwhile, eggs were detected in 3 (PE) and 2 (PS) out of 20 egg-negative samples in WECM. The PE kit detected the highest number of eggs per gram of feces (727 on average), followed by the WECM (524) and PS kit (432). In fecal samples that were intentionally spiked with 10, 20, and 30 C. sinensis eggs, PE only detected eggs 2 out of 5 samples in 10 eggs spiked (40%), and the detection rates were 80% and 100%, respectively. The PE kit enabled a more accurate identification of trematode eggs because of the clearance of small fecal debris in the microscopic field. In conclusion, the PE kit is obviously helpful to detect and identify trematode eggs in stool examinations especially in endemic areas of clonorchiasis and metagonimiasis.
5.Status of Helminthic Infections in Residents around River Basins in the Republic of Korea for 10 Years (2011-2020)
Myoung-Ro LEE ; Hee-Eun SHIN ; Seon-Ok BACK ; Young-Ju LEE ; Hee-Il LEE ; Jung-Won JU
The Korean Journal of Parasitology 2022;60(3):187-193
The positive rate of Clonorchis sinensis is the highest among intestinal parasites in the Republic of Korea (Korea). More than 1.2 million people were at risk of C. sinensis infection in Korea in 2012. An intensive control program is being implemented for residents of the 5 major river basins to reduce helminthic infections, including C. sinensis infection. This study evaluated the continuous intensive control program for parasitic diseases including clonorchiasis in areas near the 5 major river basins in Korea over the past 10 years (2011-2020). A total of 335,020 fecal samples (one sample per resident) prepared by the modified sedimentation technic were microscopically examined. Those who expelled helminth eggs were treated with anthelmintics through local health centers and re-examined 3 months later. The overall positive rate of helminths egg was 7.1%. The annual positive rates were dramatically decreased from 14.4% (2011) to 5.9% (2020). The egg positive rate was highest in C. sinensis (5.3%), followed by heterophyid flukes (1.5%) and Trichuris trichiura (0.2%). The prevalence of C. sinensis was significantly higher in males (7.6%) than in females (3.7%), and the highest in the 50–59 years (7.0%) age group. Our results are beneficial to establish prevention and control policies against helminthiases including clonorchiasis in endemic areas in this country.
6.Antitumor Effect of Low-Dose of Rapamycin in a Transgenic Mouse Model of Liver Cancer
Hyung Soon LEE ; Joon Ye KIM ; Simon Weonsang RO ; Myoung Soo KIM ; Haeryoung KIM ; Dong Jin JOO
The Korean Journal of Gastroenterology 2022;63(11):1007-1015
Purpose:
We investigate whether low-dose rapamycin is effective in preventing hepatocellular carcinoma (HCC) growth and treating HCC after tumor development in transgenic mice.
Materials and Methods:
We established transgenic mice with HCC induced by activated HrasG12V and p53 suppression. Transgenic mice were randomly assigned to five experimental groups: negative control, positive control, tacrolimus only, rapamycin only, and tacrolimus plus rapamycin. The mice were further divided into two groups according to time to commencement of immunosuppressant treatment: de novo treatment and post-tumor development.
Results:
In the de novo treatment group, marked suppression of tumor growth was observed in the rapamycin only group. In the post-tumor development group, the rapamycin only group displayed no significant suppression of tumor growth, compared to the positive control group. In T lymphocyte subset analysis, the numbers of CD4+ effector T cells and CD4+ regulatory T cells were significantly lower in the positive control, tacrolimus only, and tacrolimus plus rapamycin groups than the negative control group.Immunohistochemical analysis revealed significantly higher expression of phosphorylated-mTOR, 4E-BP1, and S6K1 in the positive control group than in the rapamycin only group.
Conclusion
Low-dose rapamycin might be effective to prevent HCC growth, but may be ineffective as a treatment option after HCC development.
7.Treatment with Extracellular Vesicles from Giardia lamblia Alleviates Dextran Sulfate Sodium-Induced Colitis in C57BL/6 Mice
Hyun Jung KIM ; Young-Ju LEE ; Seon-Ok BACK ; Shin-Hyeong CHO ; Hee-Il LEE ; Myoung-Ro LEE
The Korean Journal of Parasitology 2022;60(5):309-315
Inflammatory bowel disease (IBD) is a chronic and recurrent illness of the gastrointestinal tract. Treatment of IBD traditionally involves the use of aminosalicylic acid and steroids, while these drugs has been associated with untoward effects and refractoriness. The absence of effective treatment regimen against IBD has led to the exploration of new targets. Parasites are promising as an alternative therapy for IBD. Recent studies have highlighted the use of parasite-derived substances, such as excretory secretory products, extracellular vesicles (EVs), and exosomes, for the treatment of IBD. In this report, we examined whether EVs secreted by Giardia lamblia could prevent colitis in a mouse model. G. lamblia EVs (GlEVs) were prepared from in vitro cultures of Giardia trophozoites. Clinical signs, microscopic colon tissue inflammation, and cytokine expression levels were detected to assess the effect of GlEV treatment on dextran sulfate sodium (DSS)-induced experimental murine colitis. The administration of GlEVs prior to DSS challenge reduced the expression levels of pro-inflammatory cytokines, including tumor necrosis factor alpha, interleukin 1 beta, and interferon gamma. Our results indicate that GlEV can exert preventive effects and possess therapeutic properties against DSS-induced colitis.
8.Antitumor Effect of Low-Dose of Rapamycin in a Transgenic Mouse Model of Liver Cancer
Hyung Soon LEE ; Joon Ye KIM ; Simon Weonsang RO ; Myoung Soo KIM ; Haeryoung KIM ; Dong Jin JOO
Yonsei Medical Journal 2022;63(11):1007-1015
Purpose:
We investigate whether low-dose rapamycin is effective in preventing hepatocellular carcinoma (HCC) growth and treating HCC after tumor development in transgenic mice.
Materials and Methods:
We established transgenic mice with HCC induced by activated HrasG12V and p53 suppression. Transgenic mice were randomly assigned to five experimental groups: negative control, positive control, tacrolimus only, rapamycin only, and tacrolimus plus rapamycin. The mice were further divided into two groups according to time to commencement of immunosuppressant treatment: de novo treatment and post-tumor development.
Results:
In the de novo treatment group, marked suppression of tumor growth was observed in the rapamycin only group. In the post-tumor development group, the rapamycin only group displayed no significant suppression of tumor growth, compared to the positive control group. In T lymphocyte subset analysis, the numbers of CD4+ effector T cells and CD4+ regulatory T cells were significantly lower in the positive control, tacrolimus only, and tacrolimus plus rapamycin groups than the negative control group.Immunohistochemical analysis revealed significantly higher expression of phosphorylated-mTOR, 4E-BP1, and S6K1 in the positive control group than in the rapamycin only group.
Conclusion
Low-dose rapamycin might be effective to prevent HCC growth, but may be ineffective as a treatment option after HCC development.
9.High Endemicity with Clonorchis sinensis Metacercariae in Fish from Yongjeon-cheon (Stream) in Cheongsong-gun, Gyeongsangbuk-do, Korea
Woon-Mok SOHN ; Byoung-Kuk NA ; Shin-Hyeong CHO ; Hee Il LEE ; Myoung-Ro LEE ; Jung-Won JU ; Gou Ok KIM
The Korean Journal of Parasitology 2021;59(1):97-101
The infection status with Clonorchis sinensis metacercariae (CsMc) was examined in freshwater fishes from Yongjeon-cheon (a branch of Nakdong-gang) located in Cheongsong-gun, Gyeongsangbuk-do, the Republic of Korea (Korea). A total of 750 fishes in 19 species were examined by the artificial digestion method for 2 years (2019 and 2020). CsMc were detected in 378 (51.4%) out of 735 fishes in 14 species (73.7%), and the infection intensity was 666 per fish infected. In 2019, CsMc were found in 172 (68.0%) out of 253 fishes in 10 species, and the infection intensity was 565 per fish infected. In 2020, CsMc were detected in 206 (62.2%) out of 331 fishes in 10 species, and the infection intensity was 751 per fish infected. The other zoonotic trematode, ie. Metagonimus spp., Centrocestus armatus, Echinostoma spp. and Clinostomum complanatum, metacercariae were also detected in fishes from the survey streams, but their endemicities were relatively low. Conclusively, it was first confirmed that CsMc are highly endemic in fishes from Yongjeon-cheon in Cheongsong-gun, Gyeongsangbuk-do, Korea.
10.An additional lysis procedure during arthrocentesis of the temporomandibular joint
Keon-Mo LEE ; Wan-Hee JANG ; Myoung-Sang YOU ; Bu-Kyu LEE
Maxillofacial Plastic and Reconstructive Surgery 2021;43(1):38-
Background:
Arthrocentesis of the temporomandibular joint (TMJ) is an easy, highly efficient, minimally invasive procedure for treating temporomandibular joint disorders (TMDs). However, in some cases of mouth opening limitation (MOL), routine arthrocentesis is ineffective due to severe fibrotic adhesion in the superior joint space of the TMJ. In this condition, mechanical lysis of the adhesions might be needed to resolve the MOL, as well as other symptoms, such as chronic pain. Currently, this can be achieved by arthroscopic surgery or open TMJ surgery. The objective of this study was to introduce and evaluate our trial of the adhesion lysis procedure during arthrocentesis of the TMJ using normal 18-gauge needles.
Results:
In this study, 40 patients with MOL due to disc derangement underwent conventional arthrocentesis at first and then physical detachment was conducted using the same needle. The change in maximum mouth opening (MMO) and the pain at the TMJ were recorded before, during, and after treatment according to our protocol. The mean increase in MMO after conventional arthrocentesis was 6.6 ± 4.2mm. The mean increase in MMO after the detachment procedure with the same needle was 4.2 ± 2.0 mm. The MMO in ten patients was significantly increased after the detachment procedure than after arthrocentesis alone. In all cases, the pain intensity in the TMJ significantly decreased over time, whereas the MMO increased over time. No adverse effect was observed in all joints during our observation periods.
Conclusion
We confirmed that our simple lysis procedure with the same needle of the arthrocentesis of the TMJ could not only improve the MMO more than after a conventional arthrocentesis but also resolve severe adhesion of the joint space that was ineffective by conventional arthrocentesis. Although this additional lysis procedure is simple, it might reduce the number of cases of more invasive procedures such as arthroscopic surgery or open TMJ surgery.

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