Article
Obstetrics & Gynecology
Jessica D. St Laurent, Lawrence H. Lin, David M. Owen, Izildinha Maesta, Arnold Castaneda, Kathleen T. Hasselblatt, Donald P. Goldstein, Neil S. Horowitz, Ross S. Berkowitz, Kevin M. Elias
Summary: Differences in imprinting at tropho-miRNA genomic clusters can distinguish between pre-gestational trophoblastic neoplasia cases and benign complete hydatidiform mole cases. Lower expression of the 14q32 miRNA cluster was observed in pre-GTN cases, along with decreased protein expression of DIO3. These findings suggest that imprinting differences may provide insight into the fundamental development of CHM and serve as new biomarkers for pre-GTN CHM cases.
REPRODUCTIVE SCIENCES
(2021)
Article
Obstetrics & Gynecology
Rosemary A. Fisher, Geoffrey J. Maher
Summary: Complete and partial hydatidiform moles are genetically unusual, with diagnosis and differential diagnosis aided by techniques such as genotyping and p57 immunostaining. Genotyping plays an important role in distinguishing gestational and non-gestational trophoblastic tumors, as well as identifying the causative pregnancy.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2021)
Review
Oncology
Antonio Braga, Taiane Andrade, Maria do Carmo Borges de Souza, Vanessa Campos, Fernanda Freitas, Izildinha Maesta, Sue Yazaki Sun, Luana Giongo Pedrotti, Marina Bessel, Joffre Amim Junior, Jorge Rezende Filho, Kevin M. Elias, Neil S. Horowitz, Ross S. Berkowitz
Summary: This study compared the clinical and oncological outcomes of hydatidiform mole (HM) after spontaneous conception (SC) and intracytoplasmic sperm injection (ICSI). The results showed differences in maternal age, gestational age at diagnosis, human chorionic gonadotropin levels, occurrence of bleeding and hyperemesis, and time to remission between the two groups. However, for twin mole cases, there were no significant differences regardless of the fertilization method. Multivariable analysis indicated a lower risk of GTN with HM after ICSI compared to HM after SC.
GYNECOLOGIC ONCOLOGY
(2023)
Article
Obstetrics & Gynecology
Yvonne M. Hoeijmakers, Michiel Simons, Johan Bulten, Mark A. J. Gorris, Petronella B. Ottevanger, I. Jolanda M. de Vries, Fred C. G. J. Sweep
Summary: Treatment with antibodies directed against PD-L1 is a promising therapy for gestational trophoblastic disease. However, there are multiple antibodies available to detect PD-L1 expression, leading to variability in detection results. This study aimed to identify the most suitable PD-L1 antibody for detecting PD-L1-expressing trophoblast cells in gestational trophoblastic disease samples.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2022)
Article
Obstetrics & Gynecology
John T. Soper
Summary: This review summarizes the current evaluation and management of gestational trophoblastic disease, highlighting the importance of individualized treatment based on risk factors. Most women can be successfully managed with preservation of reproductive function. Collaboration with experienced professionals experienced in multimodality treatment is crucial for managing patients with gestational trophoblastic neoplasia.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Obstetrics & Gynecology
Vanessa Campos, Gabriela Paiva, Lilian Padron, Fernanda Freitas, Luana Giongo Pedrotti, Sue Yazaki Sun, Mauricio Viggiano, Larissa Oliveira, Lucia Rohr, Jose Mauro Madi, Tiago Pedromonico Arrym, Priscila Oliveira, Ana Paula Vieira dos Santos Esteves, Joffre Amim Junior, Jorge Rezende Filho, Kevin M. Elias, Neil S. Horowitz, Antonio Braga, Ross S. Berkowitz
Summary: The incidence of molar pregnancy and postmolar gestational trophoblastic neoplasia remained stable during the COVID-19 pandemic in Brazil. However, there were differences in the gestational age at molar pregnancy diagnosis and delays in starting chemotherapy for postmolar gestational trophoblastic neoplasia compared to previous years.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Zoltan Szabolcsi, Amanda Demeter, Peter Kiraly, Andrea Balogh, Melissa L. Wilson, Jennifer R. King, Szabolcs Hetey, Zsolt Gelencser, Koji Matsuo, Beata Hargitai, Paulette Mhawech-Fauceglia, Petronella Hupuczi, Andras Szilagyi, Zoltan Papp, Lynda D. Roman, Victoria K. Cortessis, Nandor Gabor Than
Summary: Through analysis of DNA methylation and transcriptome data in gestational trophoblastic diseases (GTDs), it was found that DNA methylation levels increase with disease severity in GTDs. Differentially expressed genes exhibit upregulation in complete moles and downregulation in choriocarcinoma cells. DNA methylation mainly influences gene expression and pathways related to trophoblast differentiation in moles and choriocarcinoma cells.
Review
Oncology
Sophie Schoenen, Katty Delbecque, Anne-Sophie Van Rompuy, Etienne Marbaix, Jean-Christophe Noel, Philippe Delvenne, Philippe Moerman, Ignace Vergote, Frederic Kridelka, Aleide Vandewal, Sileny Han, Frederic Goffin
Summary: This study evaluated the added value of a centralized pathology review of gestational trophoblastic diseases by expert pathologists and found that it had a significant impact on clinical management. The results showed that there was a lack of agreement between expert and non-expert pathologists in the initial diagnoses, and changes in diagnosis had a major impact on clinical decision-making.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2022)
Article
Public, Environmental & Occupational Health
Yuanyuan Liu, Yaqiong Ye, Xiaodong Cheng, Weiguo Lu, Xing Xie, Xinyu Wang, Xiao Li
Summary: The objective of this study was to evaluate whether prophylactic chemotherapy increased the drug resistance rate of postmolar GTN and whether the first-line chemotherapy should be different from P-chem. The results showed that prophylactic chemotherapy did not increase the drug resistance rate of postmolar GTN.
Article
Oncology
Cristina Mitric, Kelsey Yang, Gita Bhat, Stephanie Lheureux, Stephane Laframboise, Xuan Li, Genevieve Bouchard-Fortier
Summary: This study assessed the impact of centralization of trophoblastic care on clinical outcomes. The results showed that centralization can improve guideline compliance, accelerate the initiation of chemotherapy, reduce chemotherapy cycles, and enhance surveillance completion.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2023)
Review
Obstetrics & Gynecology
Lan Zhong, Liang Song, Rutie Yin, Qingli Li, Danqing Wang
Summary: Singleton normal fetus with partial hydatidiform mole (PHM) pregnancy is a rare phenomenon, and previous studies have not investigated the risk factors for the progression of gestational trophoblastic neoplasia (GTN) in this condition. This study identified gestational age at pregnancy termination, hyperthyroidism, and reasons for pregnancy termination as significant factors associated with GTN progression. Gestational age at pregnancy termination was found to have predictive value for non-progression to GTN.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH
(2023)
Article
Medicine, General & Internal
Bac Quang Nguyen, Tuan Minh Vo, Van Thi Thuy Phan, Christopher Nguyen, Hoang Vu, Brian Vo
Summary: The purpose of this study was to determine the occurrence rate of gestational trophoblastic neoplasia (GTN) and its related factors. A retrospective cohort study was conducted on 372 women aged >= 40 years with HM diagnosed through postabortion histopathological assessment. After a 2-year follow-up, 33.06% of patients were found to have GTN. Age and vaginal bleeding were identified as significant risk factors for GTN. Preventive hysterectomy or chemoprophylaxis plus hysterectomy were effective in reducing GTN risk.
YONSEI MEDICAL JOURNAL
(2023)
Article
Oncology
ShyamPyari Jaiswar, Monica Agrawal, Sujata Deo, Sumaiya Saad
Summary: Gestational trophoblastic neoplasia (GTN) is a rare disease that can be cured by chemotherapy. However, due to its varied presentation, diagnosis and management still present challenges.
JOURNAL OF CANCER RESEARCH AND THERAPEUTICS
(2022)
Editorial Material
Obstetrics & Gynecology
Mohamed Laban, Seif Tarek El-Swaify, Mazen A. Refaat, E. A. Ibrahim, Rehab M. Abdelrahman
Summary: Gestational trophoblastic disease is a common pathology in clinical practice, with recent studies focusing on molecular and genetic markers for predicting neoplastic transformation. The miRNA cluster 14q32 showed significant differences in expression, as well as a decrease in protein expression of DIO3. These findings may guide future prophylactic chemotherapy for preventing post-molar GTN.
REPRODUCTIVE SCIENCES
(2021)
Editorial Material
Obstetrics & Gynecology
Antonio Braga, Lilian Padron, Jacir Luiz Balen, Kevin M. Elias, Neil S. Horowitz, Ross S. Berkowitz
Summary: This study presents the hysteroscopic findings of complete and partial hydatidiform moles in two cases, along with the clinical histories of the patients. The study highlights the importance of recognizing molar pregnancies during hysteroscopy for abnormal uterine bleeding or retained abortion, and emphasizes the potential benefits of using hysteroscopy as an adjunct diagnostic tool in challenging clinical scenarios. Further research is needed to assess the risk of spreading molar cells into the peritoneal cavity during hysteroscopic procedures.
JOURNAL OF MINIMALLY INVASIVE GYNECOLOGY
(2021)
Article
Psychiatry
Yoshiro Morimoto, Shinji Ono, Shintaro Yoshida, Hiroyuki Mishima, Akira Kinoshita, Takeshi Tanaka, Yoshihiro Komohara, Naohiro Kurotaki, Tatsuya Kishino, Yuji Okazaki, Hiroki Ozawa, Koh-ichiro Yoshiura, Akira Imamura
Summary: Genetic and epidemiological evidence suggest that genetic factors play an important role in schizophrenia. A missense variant in the EP400 gene was found to be associated with schizophrenia in a Japanese family, and further mutations in EP400 were identified in a cohort of schizophrenia patients. The study also demonstrated anxiety-like behaviors and reduced axon diameters in Ep400 gene-edited mice, indicating a potential link between EP400 and schizophrenia.
TRANSLATIONAL PSYCHIATRY
(2021)
Article
Dermatology
M. Asai, Y. Koike, Y. Kuwatsuka, Y. Yagi, K. Kashiyama, K. Tanaka, H. Mishima, K. Yoshiura, A. Utani, H. Murota
Summary: Microarray analyses revealed common upregulated molecules in both keloid tissues and keloid-lesional fibroblasts, including PTPRD and NTM. Genes MDFI and ITGA4 were identified at the center of the gene coexpression network analysis using keloid tissues. The expression profiles of MDFI in keloids suggest its potential role in keloid pathogenesis.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2021)
Article
Genetics & Heredity
Kojima-Ishii Kanako, Nana Sakakibara, Kei Murayama, Koji Nagatani, Satoshi Murata, Akira Otake, Yasutoshi Koga, Hisato Suzuki, Tomoko Uehara, Kenjiro Kosaki, Koh-ichiro Yoshiura, Hiroyuki Mishima, Yuko Ichimiya, Yuichi Mushimoto, Tomoko Horinouchi, China Nagano, Tomohiko Yamamura, Kazumoto Iijima, Kandai Nozu
Summary: Fanconi syndrome is a functional disorder of the proximal tubule characterized by various symptoms such as aminoaciduria, glucosuria, hypophosphatemia, and metabolic acidosis. Recent studies have identified several causative genes for Fanconi syndrome, some of which are related to mitochondrial diseases. Mutations in the BCS1L gene causing deficiency in mitochondrial respiratory chain complex III have been found to be associated with Fanconi syndrome and developmental disability in some cases.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Plant Sciences
Takamasa Suzuki, Tomomi Shinagawa, Tomoko Niwa, Hibiki Akeda, Satoki Hashimoto, Hideki Tanaka, Yoko Hiroaki, Fumiya Yamasaki, Hiroyuki Mishima, Tsutae Kawai, Tetsuya Higashiyama, Kenzo Nakamura
Summary: The study identified the specific role of DROL1 in regulating the splicing of minor introns with AT-AC termini in Arabidopsis, which plays a crucial role in plant growth and development. The reduced splicing of AT-AC-type introns in drol1 mutants led to retarded growth of seedlings, possibly affecting important genes involved in stress responses and cell proliferation.
Article
Oncology
Saori Aoki, Ken Higashimoto, Hidenori Hidaka, Yasufumi Ohtsuka, Shigehisa Aoki, Hiroyuki Mishima, Koh-ichiro Yoshiura, Kazuhiko Nakabayashi, Kenichiro Hata, Hitomi Yatsuki, Satoshi Hara, Takashi Ohba, Hidetaka Katabuchi, Hidenobu Soejima
Summary: Placental mesenchymal dysplasia (PMD) is a morphological abnormality associated with androgenetic/biparental mosaicism (ABM) and Beckwith-Wiedemann syndrome (BWS). This study found that 35% of PMD cases were biparental, and the hypomethylation of placenta-specific differentially methylated regions (DMRs) played an important role in the pathogenesis of biparental PMD.
CLINICAL EPIGENETICS
(2022)
Article
Oncology
Hikaru Sakamoto, Koji Ando, Yoshitaka Imaizumi, Hiroyuki Mishima, Akira Kinoshita, Yuji Kobayashi, Hideaki Kitanosono, Takeharu Kato, Yasushi Sawayama, Shinya Sato, Tomoko Hata, Masahiro Nakashima, Koh-Ichiro Yoshiura, Yasushi Miyazaki
Summary: The study found that inhibiting cyclin-dependent protein kinase 9 (CDK9) and regulating super-enhancers (SE) tumor-specific gene expression have therapeutic potential for adult T-cell leukemia/lymphoma (ATL). The CDK9 inhibitor, Alvocidib, demonstrated anti-ATL activity by inhibiting SE-mediated IRF4 expression and inhibiting ATL cell proliferation. The study also revealed the promising therapeutic efficacy of Alvocidib against ATL and its mode of action.
Article
Cardiac & Cardiovascular Systems
Asami Kashiwa, Takeru Makiyama, Hirohiko Kohjitani, Thomas L. Maurissen, Taisuke Ishikawa, Yuta Yamamoto, Yimin Wuriyanghai, Jingshan Gao, Hai Huang, Tomohiko Imamura, Takanori Aizawa, Misato Nishikawa, Kazuhisa Chonabayashi, Hiroyuki Mishima, Seiko Ohno, Futoshi Toyoda, Seiichi Sato, Koh-Ichiro Yoshiura, Kazuhiro Takahashi, Yoshinori Yoshida, Knut Woltjen, Minoru Horie, Naomasa Makita, Takeshi Kimura
Summary: This study investigated the electrophysiological features and pathophysiological mechanisms of the CACNA1C-E1115K mutation using patient-specific induced pluripotent stem cell-derived cardiomyocytes. The mutant cells exhibited impaired calcium current, changes in action potential, and the occurrence of arrhythmia. Evaluation of drug treatment showed that specific antiarrhythmic drugs could shorten the action potential of the mutant cells by modulating the upregulation of sodium current (I-NaL). In conclusion, this study revealed the role of the CACNA1C-E1115K mutation in arrhythmia and provided insights into its underlying mechanisms.
Article
Dermatology
Ami Kawaguchi, Mitsuhiro Matsuda, Hiroshi Koga, Chika Ohata, Takahiro Hamada, Hiroyuki Mishima, Koh-ichiro Yoshiura, Masatoshi Jinnin, Hironori Minami, Nobuo Kanazawa
Summary: We report a case of Darier's disease in a mother and her adult son. The mother had positivity for anti-Dsg1 antibodies, while the son did not. Genetic analysis revealed a mutation in the Atp2a2 gene in both patients.
JOURNAL OF DERMATOLOGY
(2022)
Article
Genetics & Heredity
Yo Hamaguchi, Hiroyuki Mishima, Tomoko Kawai, Shinji Saitoh, Kenichiro Hata, Akira Kinoshita, Koh-ichiro Yoshiura
Summary: Background Kabuki syndrome (KS) is a congenital malformation syndrome caused by mutations in the KMT2D and KDM6A genes that encode histone modification enzymes. Recently, disease-specific DNA methylation patterns, or episignatures, have been recognized and used as a diagnostic tool for KS. In this study, we investigated altered CpG-methylation sites that were specific to KS to find important genes associated with the various phenotypes or pathogenesis of KS. Our results indicate that disease-specific methylation sites can be identified from a small number of WGBS samples, and hybridization capture followed by enzymatic methylation sequencing can simultaneously test the sites. Although DNA methylation can be tissue-specific, our results suggest that methylation profiling of DNA extracted from peripheral blood may be a powerful approach to study the pathogenesis of diseases.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Multidisciplinary Sciences
Yuki Nagata, Ryo Watanabe, Christian Eichhorn, Seiko Ohno, Takeshi Aiba, Taisuke Ishikawa, Yukiko Nakano, Yoshiyasu Aizawa, Kenshi Hayashi, Nobuyuki Murakoshi, Tadashi Nakajima, Nobue Yagihara, Hiroyuki Mishima, Takeaki Sudo, Chihiro Higuchi, Atsushi Takahashi, Akihiro Sekine, Takeru Makiyama, Yoshihiro Tanaka, Atsuyuki Watanabe, Motomi Tachibana, Hiroshi Morita, Koh-ichiro Yoshiura, Tatsuhiko Tsunoda, Hiroshi Watanabe, Masahiko Kurabayashi, Akihiko Nogami, Yasuki Kihara, Minoru Horie, Wataru Shimizu, Naomasa Makita, Toshihiro Tanaka
Summary: Deep-sequencing identified novel genetic mutations in LQTS patients, contributing to early diagnosis, risk stratification, and personalized treatment for the disease.
Article
Virology
Akari Niiya, Yo Hamaguchi, Hiroyuki Mishima, Shoko Miura, Nahoko Komatsu, Koh Nagata, Yuri Hasegawa, Kiyonori Miura, Koh-ichiro Yoshiura
Summary: This study proposes a novel risk classification strategy for cervical lesion progression based on specific amino acids. It successfully expands the traditional HPV classification and resolves discrepancies. The classification system was validated using data from 325 cervical swab specimens, and clinical outcomes were found to significantly correlate with the classification results.
JOURNAL OF MEDICAL VIROLOGY
(2023)
Meeting Abstract
Endocrinology & Metabolism
Sumito Dateki, Midori Motokawa, Haruka Kawamura, Kohei Haraguchi, Toshihiko Shirakawa, Hiroyuki Mishima, Koh-ichiro Yoshiura, Hiroyuki Moriuchi
HORMONE RESEARCH IN PAEDIATRICS
(2023)
Meeting Abstract
Endocrinology & Metabolism
Midori Motokawa, Satoshi Watanabe, Akiko Nakatomi, Hiroyuki Mishima, Koh-ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
HORMONE RESEARCH IN PAEDIATRICS
(2023)
Article
Medicine, General & Internal
Hideki Kosako, Yusuke Yamashita, Ken Tanaka, Hiroyuki Mishima, Ryuta Iwamoto, Akira Kinoshita, Shin-ichi Murata, Koichi Ohshima, Koh-ichiro Yoshiura, Takashi Sonoki, Shinobu Tamura
Summary: This case report describes a rare MALT lymphoma in a patient with NF1, and a somatic frameshift mutation of the A20 gene was found in the tumor tissues. This finding suggests a novel association between hereditary cancer syndrome and early-onset MALT lymphoma.
MEDICINA-LITHUANIA
(2022)
Meeting Abstract
Cardiac & Cardiovascular Systems
K. Usuda, K. Hayashi, T. Ishikawa, Y. Aizawa, T. Kato, T. Kusayama, T. Tsuda, S. Usui, K. Sakata, M. Kawashiri, H. Mishima, K. Yoshiura, N. Makita, M. Takamura
EUROPEAN HEART JOURNAL
(2021)
