Article
Oncology
Lei Zhang, Yuqing Li, Lingli Zhou, Houhong Zhou, Liefu Ye, Tong Ou, Huaishan Hong, Shiwen Zheng, Ziyu Zhou, Kang Wu, Zeqin Yan, Jean Paul Thiery, Jun Cui, Song Wu
Summary: YTHDF2 is upregulated in bladder cancer and promotes tumor growth by inhibiting RIG-I-mediated immune signaling, highlighting the significance of m(6)A modifications in bladder cancer and providing therapeutic opportunities.
Article
Medicine, General & Internal
Marc S. Weinberg, Affan Zafar, Colin Magdamo, Sun Young Chung, Wesley H. Chou, Madhur Nayan, Mayuresh Deodhar, Daniel M. Frendl, Adam S. Feldman, Denise L. Faustman, Steven E. Arnold, Bella Vakulenko-Lagun, Sudeshna Das
Summary: The BCG vaccine, widely used to prevent tuberculosis, has multiple nonspecific beneficial effects and is recommended for the treatment of non-muscle-invasive bladder cancer. This study evaluated the association between intravesical BCG vaccine exposure and the incidence of Alzheimer disease and related dementias (ADRD), taking death into account as a competing event. The results showed that BCG vaccine treatment was associated with a lower rate and risk of ADRD in patients with bladder cancer.
Article
Urology & Nephrology
Felix Guerrero-Ramos, Daniel A. Gonzalez-Padilla, Alejandro Gonzalez-Diaz, Federico de la Rosa-Kehrmann, Alfredo Rodriguez-Antolin, Brant A. Inman, Felipe Villacampa-Auba
Summary: This study compares the outcomes of BCG and HIVEC in the treatment of high-risk non-muscle-invasive bladder cancer patients. The results show that HIVEC has comparable effectiveness and safety to BCG in terms of recurrence-free survival and progression-free survival, making it a reasonable alternative during BCG shortages.
WORLD JOURNAL OF UROLOGY
(2022)
Article
Multidisciplinary Sciences
Christina Gillezeau, Naimisha Movva, Maaike van Gerwen, Karma Rabon-Stith, Norah Shire, Philip Zachary Brohawn, Emanuela Taioli, Jon Fryzek
Summary: The study suggests that the IFN-gamma signature status is associated with a decreased risk of mortality in patients with urinary bladder cancer, particularly in those with muscle-invasive bladder cancer. This may serve as a prognostic marker for survival assessment.
Article
Immunology
Fei Li, Henghui Zhang, Yu Wang, Zhihao Yao, Kunfeng Xie, Qixin Mo, Qin Fan, Lina Hou, Fan Deng, Wanlong Tan
Summary: Fibroblast growth factor binding protein 1 (FGFBP1) is upregulated in failures of BCG therapy and is associated with poor prognosis and immune escape in bladder cancer patients. There is a positive correlation between FGFBP1 and PD-L1 expression, making it a potential biomarker for accurately predicting BCG response.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Chun Jye Lim, Phuong Hoang Diem Nguyen, Martin Wasser, Pavanish Kumar, Yun Hua Lee, Nurul Jannah Mohamed Nasir, Camillus Chua, Liyun Lai, Sharifah Nur Hazirah, Josh Jie Hua Loh, Li Yan Khor, Joe Yeong, Tony Kiat Hon Lim, Alvin Wei Xiang Low, Salvatore Albani, Tsung Wen Chong, Valerie Chew
Summary: This study identified immune subset changes and gene expression features associated with BCG treatment by analyzing patient blood and tissue samples. It also found that baseline densities of non-Treg and CD8(+)PD-1(+) T cells were predictive of response and recurrence-free survival after BCG. Furthermore, the study revealed predictive biomarkers for response and resistance mechanisms to BCG.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Medicine, General & Internal
Yu-Kuang Chen, Eric Yi-Hsiu Huang, Yen-Hwa Chang, Junne-Yih Kuo, Hsiao-Jen Chung, Howard Hung-Hao Wu, Tzu-Ping Lin, Chih-Chieh Lin, Yu-Hua Fan, I-Shen Huang, Alex T. L. Lin, William J. Huang
Summary: In this study, the efficacy and adverse effects of Connaught and Tice strains of BCG in NMIBC patients were compared, with comparable results in terms of recurrence-free survival, progression-free survival, and adverse events. However, multivariate analysis showed that Tice strain was associated with inferior progression-free survival.
JOURNAL OF THE CHINESE MEDICAL ASSOCIATION
(2022)
Article
Oncology
Kuan-Chun Huang, Dinesh Chanda, Shannon McGrath, Vaishali Dixit, Chi Zhang, Jiayi Wu, Karen Tendyke, Huilan Yao, Renee Hukkanen, Noel Taylor, David Verbel, Dae-Shik Kim, Atsushi Endo, Thomas A. Noland, Yu Chen, Mark Matijevic, John Wang, Janna Hutz, Nadeem Sarwar, Francis G. Fang, Xingfeng Bao
Summary: This study demonstrates that the use of macrocyle-bridged STING agonist E7766 can induce antitumor effects in vitro and in vivo via intravesical instillation in NMIBC tumor models resistant to BCG and anti-PD-1 agents. Activation of the STING pathway in the bladder results in immune cell infiltration and antigen presentation, leading to antitumor activity and immunity. This research provides a rationale for subsequent clinical studies in NMIBC patients.
MOLECULAR CANCER THERAPEUTICS
(2022)
Article
Urology & Nephrology
Noah M. Hahn, Michael A. O'Donnell, Jason A. Efstathiou, Marianna Zahurak, Gary L. Rosner, Jeff Smith, Max R. Kates, Trinity J. Bivalacqua, Phuoc T. Tran, Daniel Y. Song, Alex S. Baras, Andres Matoso, Woonyoung Choi, Kellie N. Smitha, Drew M. Pardoll, Luigi Marchionni, Bridget McGuire, Mary Grace Phelan, Burles A. Johnson, Tanya O'Neal, David J. McConkey, Tracy L. Roseo, Marc Bjurlin, Emerson A. Lim, Charles G. Drake, James M. McKiernan, Israel Deutschr, Christopher B. Andersonr, Donald L. Lamm, Daniel M. Geynisman, Elizabeth R. Plimack, Mark A. Hallmany, Eric M. Horwitzy, Essel Al-Saleem, David Y. T. Chen, Richard E. Greenberg, Alexander Kutikov, Gordon Guo, Timothy A. Masterson, Nabil Adra, Hristos Z. Kaimakliotis
Summary: This study evaluated the safety and preliminary efficacy of durvalumab combined with BCG or radiation therapy in BCG-unresponsive bladder cancer patients. The results showed that this combination therapy was feasible and had promising efficacy.
Article
Immunology
Christopher James, Kayeromi Gomez, Shalin Desai, Hiten D. Patel, Goran Rac, Chirag P. Doshi, Ryan Dornbier, Petar Bajic, Thomas Halverson, Gopal N. Gupta, Marcus L. Quek, Alex Gorbonos, Robert Flanigan, Alan J. Wolfe
Summary: Intravesical therapy (IVT) is the standard treatment for high grade non-muscle invasive bladder cancer (NMIBC), but recurrence is still common. This study aimed to characterize changes in the bladder microbiome during IVT and investigate their correlation with outcomes in patients with NMIBC.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Article
Oncology
Mizuki Kobayashi, Nobuhiro Fujiyama, Tokiyoshi Tanegashima, Shintaro Narita, Yoshiaki Yamamoto, Naohiro Fujimoto, Shohei Ueda, Ario Takeuchi, Kazuyuki Numakura, Tomonori Habuchi, Hideyasu Matsuyama, Masatoshi Eto, Masaki Shiota
Summary: This study demonstrates the impact of HLA gene polymorphism and specificity on intravesical recurrence after BCG therapy in NMIBC patients, highlighting the importance of HLA-B loci diversity.
CANCER IMMUNOLOGY IMMUNOTHERAPY
(2022)
Article
Oncology
Makito Miyake, Nobutaka Nishimura, Kota Iida, Tomomi Fujii, Ryoma Nishikawa, Shogo Teraoka, Atsushi Takenaka, Hiroshi Kikuchi, Takashige Abe, Nobuo Shinohara, Eijiro Okajima, Takuto Shimizu, Shunta Hori, Norihiko Tsuchiya, Takuya Owari, Yasukiyo Murakami, Rikiya Taoka, Takashi Kobayashi, Takahiro Kojima, Naotaka Nishiyama, Hiroshi Kitamura, Hiroyuki Nishiyama, Kiyohide Fujimoto
Summary: The study investigated the outcomes of bladder UC patients with DD or VMs treated with intravesical BCG, finding that concomitant VMs were more likely to result in cancer-specific death. The risk associated with VMs was significant for cancer-specific mortality only, not affecting recurrence-free or progression-free survival rates.
Article
Medicine, General & Internal
Muhammed Fatih Simsekoglu, Islim Kaleler, Bulent Onal, Cetin Demirdag, Sinharib Citgez, Ezel Uslu, Ahmet Erozenci, Zubeyr Talat
Summary: This study investigated the changes in mast cell mediators in NMIBC patients undergoing BCG immunotherapy and their predictive value. Results showed that N-methylhistamine and histamine levels significantly increased at the onset of immunotherapy and decreased when treatment was terminated. However, these mediators cannot predict patients' response to immunotherapy.
INTERNATIONAL JOURNAL OF CLINICAL PRACTICE
(2021)
Article
Multidisciplinary Sciences
Maria A. Duarte C., Jeismar M. Carballo O., Yetsenia M. De Gouveia, Angie Garcia, Diana Ruiz, Teresa Gledhill, Eglys Gonzalez-Marcano, Ana F. Convit
Summary: ConvitVax is a personalized vaccine for breast cancer treatment, which has been shown to be safe and effective in preclinical studies on BALB/c mice.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Boli Ma, Xueyi Nie, Lei Liu, Mengyuan Li, Qi Chen, Yueyang Liu, Yuxin Hou, Yi Yang, Jinrui Xu
Summary: The inhibition of PERK alleviated pyroptosis induced by BCG infection, showing an effect of resistance against infection.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Archana Rai, Siddaramappa J. Patil, Priyanka Srivastava, Kalpana Gaurishankar, Shubha R. Phadke
Summary: Robinow syndrome is a rare heterogeneous disorder characterized by various features such as short stature, short limbs, and craniofacial abnormalities, with autosomal dominant and recessive inheritance patterns. A study on four Indian children with RS revealed sequence variants in genes ROR2, DVL1, and DVL3, expanding the mutational spectrum of RS. Radiological changes in the radius and ulna were highlighted in patients with ROR2 sequence variants, characteristic for ROR2 related RS but also reported in WNT5A related RS.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Chakshu Chaudhry, Parminder Kaur, Priyanka Srivastava, Anupriya Kaur
Summary: Ayme Gripp syndrome is a multisystem disorder caused by heterozygous variation in the MAF gene, characterized by congenital cataracts, sensory neural hearing loss, characteristic facial appearance, and neurodevelopmental abnormalities. The precise prevalence is unknown, with only a few reported cases in the literature.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Review
Medicine, Research & Experimental
Priyanka Srivastava, Chitra Bamba, Seema Chopra, Kausik Mandal
Summary: There are numerous studies on the association between miRNA gene polymorphism and recurrent pregnancy loss (RPL), but the results are inconsistent. This meta-analysis suggests that certain miRNA SNPs may be associated with a decreased risk of RPL.
BIOMARKERS IN MEDICINE
(2022)
Article
Pediatrics
Shaily Saraf, Priyanka Srivastava, Inusha Panigrahi, Venu Seenappa, Rakesh Kumar, Jaivinder Yadav, Roshan Daniel, Devi Dayal
Summary: This study characterized the CYP21A2 gene mutations in children with classic CAH, identifying several common mutation types and observing a good genotype-phenotype correlation. Clinical exome sequencing was found to be the preferred method for molecular diagnosis of CAH.
INDIAN JOURNAL OF PEDIATRICS
(2022)
Article
Hematology
Neha Agrawal, Ravi Kumar, Suzena Masih, Priyanka Srivastava, Parshw Singh, Sushil Kumar Jaiswal, Amita Moirangthem, Deepti Saxena, Shubha R. Phadke, Kausik Mandal
Summary: This study describes the mutational spectrum of severe hemophilia B patients in India, revealing 27 different mutations in 30 probands, including 20 known and 7 novel variants. The research also explores the presence of inhibitory antibodies in two patients.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2022)
Article
Ophthalmology
Savleen Kaur, Jaspreet Sukhija, Ai Upriya Kaur, Priyanka Srivastava
Summary: In this study, we report two children with Leber congenital amaurosis (LCA), a form of inherited retinal dystrophy. Both patients were found to carry a novel missense mutation in exon 9 of the GUCY2D gene. This finding contributes to the understanding of the genetic basis of LCA and may guide future research and therapy.
Editorial Material
Medical Laboratory Technology
Parminder Kaur, Chakshu Chaudhry, Inusha Panigrahi, Priyanka Srivastava, Anupriya Kaur
Summary: This article presents a case of severe GSS deficiency in a newborn boy, diagnosed based on clinical features and increased urinary 5-oxoproline levels determined via GCMS testing.
LABORATORY MEDICINE
(2022)
Article
Pediatrics
Rajiv Sinha, Subal Pradhan, Sushmita Banerjee, Afsana Jahan, Shakil Akhtar, Amitava Pahari, Sumantra Raut, Prince Parakh, Surupa Basu, Priyanka Srivastava, Snehamayee Nayak, S. G. Thenral, V Ramprasad, Emma Ashton, Detlef Bockenhauer, Kausik Mandal
Summary: Whole-exome sequencing plays an important role in the diagnosis and management of children with inherited tubulopathies in the Indian population.
PEDIATRIC NEPHROLOGY
(2022)
Article
Pediatrics
Dharmagat Bhattarai, Rajni Kumrah, Anit Kaur, Anupriya Kaur, Priyanka Srivastava, Amit Rawat, Surjit Singh
Summary: This study found that ITPKC gene SNPs (rs28493229 and rs2290692) did not have a significant association with susceptibility to KD in children from North India. The combined genotype of SNP rs2290692 was shown to be associated with KD. Larger multicentric studies are required to understand the genetic basis of KD.
PEDIATRIC RESEARCH
(2022)
Article
Genetics & Heredity
Neha Agrawal, Gaurav Verma, Deepti Saxena, Madhulika Kabra, Neerja Gupta, Kausik Mandal, Amita Moirangthem, Jayesh Sheth, Ratna Dua Puri, Sunita Bijarnia-Mahay, Seema Kapoor, Sumita Danda, V. H. Sankar, Chaitanya A. Datar, Prajnya Ranganath, Anju Shukla, Ashwin Dalal, Priyanka Srivastava, Radha Rama Devi, Shubha R. Phadke
Summary: This study explored the clinical and molecular spectrum of 144 Indian patients with MPS II. The main symptoms of MPS II included developmental delay, intellectual disability, macrocephaly, coarse facies, and dysostosis. Hepatosplenomegaly, joint contractures, and short stature were also common features. The detection rate of pathogenic variants in this cohort was 95.5%, and two variants of unknown significance were identified.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Ankita Singh, Amit Rawat, Anit Kaur, Anupriya Kaur, Rajni Kumrah, Nameirakpam Johnson, Himanshi Chaudhary, Rakesh Kumar Pilania, Priyanka Srivastava, Surjit Singh
Summary: This study is the first investigation from India and the second in the world that explores the association between THBD gene polymorphism and Kawasaki disease. It's also the first study to assess plasma thrombomodulin levels in Kawasaki disease patients. The results showed that Kawasaki disease patients with CT/TT genotypes had significantly higher plasma thrombomodulin levels.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Genetics & Heredity
Priyanka Srivastava, Chitra Bamba, Rakesh Kumar Pilania, Anu Kumari, Rajni Kumrah, Archan Sil, Surjit Singh
Summary: This study aimed to elucidate the underlying pathogenesis of Kawasaki disease (KD) by re-analyzing transcriptome data. The findings identified genes related to neutrophil degranulation as important factors in KD. Additionally, the study revealed a strong interplay between immunological and genetic factors in the pathogenesis of KD.
FRONTIERS IN GENETICS
(2022)
Review
Clinical Neurology
Priyanka Madaan, Yashovardhan Kaushal, Priyanka Srivastava, Yanick J. Crow, John H. Livingston, Chirag Ahuja, Naveen Sankhyan
Summary: Pathogenic variants in the NRROS gene are associated with infantile spasms syndrome and progressive neurodegeneration. Among the 11 identified children, 7 had normal early development. All children had a history of drug-resistant epilepsy, with 3 experiencing epileptic spasms. The median age at seizure onset and developmental regression was 12 months and the median age at death was 36 months. Eight of the children had intracranial calcifications and neuroimaging showed progressive cerebral atrophy and white matter loss.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2022)
Article
Pediatrics
Anupriya Kaur, Chakshu Chaudhry, Parminder Kaur, Roshan Daniel, Priyanka Srivastava
Summary: Chromatinopathy is an emerging category of multiple malformation syndromes characterized by disruptions in transcriptional regulation and imbalances in chromatin states. These syndromes primarily affect neurological function, causing intellectual disability, and also involve growth abnormalities, limb deformities, and immune dysfunction.
JOURNAL OF PEDIATRIC GENETICS
(2022)
Article
Genetics & Heredity
Aradhana Dwivedi, Amita Moirangthem, Himani Pandey, Pankaj Sharma, Priyanka Srivastava, Prabhaker Yadav, Deepti Saxena, Shubha Phadke, Preeti Dabadghao, Neerja Gupta, Madhulika Kabra, Rekha Goyal, Rituparna Biswas, Swayamsidha Mangaraj, Debarati Bhar, Subhankar Chowdhury, Amit Agarwal, Kausik Mandal
Summary: Von Hippel-Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in the VHL gene, characterized by various benign and malignant tumors. Mutation testing for the VHL gene can help in diagnosing VHL syndrome and associated tumors with good diagnostic yield. The testing is simple and can be easily implemented even in resource-constrained settings, with the potential for pre-symptomatic testing and surveillance in familial cases.
EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS
(2022)