Editorial Material
Obstetrics & Gynecology
Mary L. Marnach, Rochelle R. Torgerson
Summary: Systemic and other therapies may be considered as alternatives for vulvar lichen planus and lichen sclerosus when topical corticosteroids and immunomodulators are inadequate.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Dermatology
Fangyi Xie, Surendra Dasari, Maria Deschaine, Casey A. Gleue, Julio C. Sartori-Valinotti, Rochelle R. Torgerson, Mark D. P. Davis, M. Cristine Charlesworth, Alexander Meves, Julia S. Lehman
Summary: Vulvar lichen planus (VLP) is a chronic inflammatory disease that affects patients' quality of life. This study aimed to identify specific tissue-based protein biomarkers in VLP and explore the underlying mechanisms. Proteomic analysis revealed overexpression of several proteins related to Th1 autoimmunity in VLP, providing insights into its pathogenesis and potential therapeutic targets.
EXPERIMENTAL DERMATOLOGY
(2023)
Article
Dentistry, Oral Surgery & Medicine
Marketa Janovska, Katherine J. Bodiford, Alison J. Bruce, Roy S. Rogers III
Summary: The study found that oral lichen planus and vulvar lichen sclerosus may coexist in patients in their seventies. The most commonly used treatment is topical corticosteroids, and the coexistence of both diseases does not increase the risk of malignancy.
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY
(2023)
Article
Dermatology
Casey A. Gleue, Fangyi Xie, Maria Deschaine, Surendra Dasari, Julio C. Sartori-Valinotti, Rochelle R. Torgerson, Mark D. P. Davis, M. Cristine Charlesworth, Alexander Meves, Julia S. Lehman
Summary: The study identified significant differences in protein expression between transforming VLS and indolent VLS, particularly in pathways related to cancer development. The results support the notion that VLS is a risk factor for VSCC and suggest potential biomarkers and therapeutic targets for future research.
EXPERIMENTAL DERMATOLOGY
(2022)
Editorial Material
Dermatology
Christina N. Kraus
Summary: This article provides information about the symptoms, diagnosis, and treatment of vulvar lichen sclerosus.
Article
Biochemistry & Molecular Biology
Juehua Cheng, Yuyao Zhang, Jingjing Yang, Yanting Wang, Juanyong Xu, Yuan Fan
Summary: This study found that miR-155-5p regulates the secretion of IL-6 and IL-8 in activated OLP associated-fibroblasts by downregulating the expression of SOCS1. These findings provide novel insights into the pathogenesis of OLP and identify a potential new target for OLP therapy.
MOLECULAR BIOLOGY REPORTS
(2022)
Review
Biochemistry & Molecular Biology
Monica Corazza, Natale Schettini, Pierantonia Zedde, Alessandro Borghi
Summary: Vulvar lichen sclerosus (VLS) is a chronic and distressing inflammatory disease impacting quality of life. The exact etiopathogenesis remains unknown, but it is believed that environmental factors acting on a genetic background may trigger an autoimmune response, leading to a chronic inflammatory state. Anti-inflammatory treatments, particularly topical corticosteroids, have been effective in improving VLS clinical-pathological changes. Further research is needed to identify key mediators and optimize treatments.
Article
Microbiology
Lisa Pagan, Bertine W. Huisman, Michelle van der Wurff, Rosanne G. C. Naafs, Frank H. J. Schuren, Ingrid M. J. G. Sanders, Wiep Klass Smits, Romy D. Zwittink, Jacobus Burggraaf, Robert Rissmann, Jurgen M. J. Piek, Jannie G. E. Henderickx, Mariette I. E. van Poelgeest
Summary: This exploratory study analyzed the vulvar microbiome in LS and HSIL patients compared to healthy controls, finding distinct differences in bacterial and viral fractions between diseased and healthy vulvar skin, providing insights into the etiology of vulvar premalignancies.
FRONTIERS IN MICROBIOLOGY
(2023)
Article
Engineering, Biomedical
Min Yang, Kailv Sun, Jianmin Chang
Summary: This study analyzed the expression profile of circRNAs in vulvar lichen sclerosus and identified their potential association with the pathogenesis and pathological process of the disease.
BIOMEDICAL ENGINEERING ONLINE
(2022)
Article
Medicine, General & Internal
Bostjan Luzar, Anamarija Truden, Lara Turk, Vid Jansa, Fiona Lewis, Eduardo Calonje, Spela Smrkolj
Summary: This article discusses a case of an 86-year-old white woman with hyperpigmentation and urine incontinence on her upper vulva. The biopsy revealed inflammatory infiltrate, dilated blood vessels, and erythrocyte extravasation, consistent with the diagnosis of vulvar lichen planus. Chronic vulvar purpura refers to a chronic inflammatory skin disorder presenting as red bluish or violaceous discolorations on the vulva, often associated with speckling similar to cayenne pepper. The final diagnosis can be challenging due to the overlap of possible diseases, and it is important to exclude a melanocytic tumour.
MEDICINA-LITHUANIA
(2023)
Article
Cell Biology
Xiaoxiao Liu, Yingying Zhuo, Yunlu Zhou, Jun Hu, Hongwu Wen, Changji Xiao
Summary: This study evaluated the compositional characteristics of the vulvar skin microbiota in patients with vulvar lichen sclerosus (VLS) and asymptomatic postmenopausal women. The results showed significant differences in the microbial composition between the VLS group and the control group, with increased abundance of certain genera in the VLS group.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Obstetrics & Gynecology
Pedro Vieira-Baptista, Faustino R. Perez-Lopez, Maria T. Lopez-Baena, Colleen K. Stockdale, Mario Preti, Jacob Bornstein
Summary: Vulvar lichen sclerosus (VLS) and possibly vulvar lichen planus (VLP) are associated with an increased risk of vulvar cancer (VC), especially in the presence of differentiated vulvar intraepithelial neoplasia (dVIN) and with advancing age. Ultrapotent topical steroids seem to reduce this risk. VLP has been suggested to increase the risk of developing VC. Hence, treatment and regular life-long follow-up should be offered to women with VLS or VLP.
JOURNAL OF LOWER GENITAL TRACT DISEASE
(2022)
Article
Psychology, Clinical
Sukru Yildiz, Huseyin Cengiz, Cihan Kaya, Ismail Alay, Emine Ozturk, Aysun Fendal Tunca, Aliye Erdogan, Levent Yasar
Summary: The study found an association between sexual function, genital self-image, and anxiety levels in patients with vulvar LP and vulvar LS. Patients with worse genital self-image in these conditions tended to have more sexual problems and anxiety.
JOURNAL OF PSYCHOSOMATIC OBSTETRICS & GYNECOLOGY
(2022)
Article
Dermatology
Yu Fu, Yingqiu Bao, Ziyuan Li, Xiaoman Gao, Jianmin Chang
Summary: The study revealed a decrease in melanocyte density in both early and late VLS patients, with a significant reduction in cell-layer thickness observed predominantly in the late VLS group.
INTERNATIONAL JOURNAL OF DERMATOLOGY
(2021)
Article
Genetics & Heredity
Lingyan Wang, Qingqing Lv, Jiayi Guo, Jianwei Wang, Jing Pan
Summary: This study used RNA-Seq to analyze the gene expression in vulvar lichen sclerosus (VLS) lesions. The findings revealed dysregulated genes associated with T cell activation, neutrophil activity, and cell proliferation, providing insights into the pathogenesis and potential therapeutic strategies for VLS.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Josefin Werme, Sophie van der Sluis, Danielle Posthuma, Christiaan A. de Leeuw
Summary: Genetic correlation analysis is used to identify phenotypes with shared genetic basis. Traditional approaches may fail in cases where the correlation is confined to specific genomic regions or shows opposing directions at different loci. The LAVA framework introduced here allows for local analysis of genetic correlation, as well as evaluation of local heritabilities and conditional genetic relations between multiple phenotypes.
Article
Pharmacology & Pharmacy
Maria-Theodora Pandi, Maria Koromina, Gerasimos Vonitsanos, Peter J. van der Spek, George P. Patrinos, Christina Mitropoulou
Summary: The study developed a generic cost-utility analysis model that provides results consistent with traditional cost-utility analysis, offering useful economic evidence for personalized medicine interventions.
PHARMACOLOGICAL RESEARCH
(2022)
Correction
Psychiatry
Josefin Werme, Sophie van der Sluis, Danielle Posthuma, Christiaan A. de Leeuw
TRANSLATIONAL PSYCHIATRY
(2022)
Article
Biology
Job van Riet, Chinmoy Saha, Nikolaos Strepis, Rutger W. W. Brouwer, Elena S. Martens-Uzunova, Wesley S. van de Geer, Sigrid M. A. Swagemakers, Andrew Stubbs, Yassir Halimi, Sanne Voogd, Arif Mohammad Tanmoy, Malgorzata A. Komor, Youri Hoogstrate, Bart Janssen, Remond J. A. Fijneman, Yashar S. Niknafs, Arul M. Chinnaiyan, Wilfred F. J. van IJcken, Peter J. van der Spek, Guido Jenster, Rogier Louwen
Summary: Clustered Regularly Interspaced Short Palindromic Repeats (CRISPRs) have been discovered in the human genome, termed hCRISPRs, which are expressed as small non-coding RNAs (sncRNAs) and can distinguish normal from malignant tissues. These findings suggest the potential use of hCRISPRs as diagnostic biomarkers for cancer and the development of point-of-care tests based on their differential expression.
COMMUNICATIONS BIOLOGY
(2022)
Article
Rheumatology
Christina Torres Kozycki, Shilpa Kodati, Laryssa Huryn, Hongying Wang, Blake M. Warner, Priyam Jani, Dima Hammoud, Mones S. Abu-Asab, Yingyos Jittayasothorn, Mary J. Mattapallil, Wanxia Li Tsai, Ehsan Ullah, Ping Zhou, Xiaoying Tian, Ariane Soldatos, Niki Moutsopoulos, Marie Kao-Hsieh, Theo Heller, Edward W. Cowen, Chyi-Chia Richard Lee, Camilo Toro, Shelley Kalsi, Zohreh Khavandgar, Alan Baer, Margaret Beach, Debra Long Priel, Michele Nehrebecky, Sofia Rosenzweig, Tina Romeo, Natalie Deuitch, Laurie Brenchley, Eileen Pelayo, Wadih Zein, Nida Sen, Alexander H. Yang, Gary Farley, David A. Sweetser, Lauren Briere, Janine Yang, Fabiano de Oliveira Poswar, Ida Schwartz, Tamires Silva Alves, Perrine Dusser, Isabelle Kone-Paut, Isabelle Touitou, Salah Mohamed Titah, Petrus Martin van Hagen, Rogier T. A. van Wijck, Peter J. van der Spek, Hiromi Yano, Andreas Benneche, Ellen M. Apalset, Ragnhild Wivestad Jansson, Rachel R. Caspi, Douglas Byron Kuhns, Massimo Gadina, Hidetoshi Takada, Hiroaki Ida, Ryuta Nishikomori, Elena Verrecchia, Eugenio Sangiorgi, Raffaele Manna, Brian P. Brooks, Lucia Sobrin, Robert Hufnagel, David Beck, Feng Shao, Amanda K. Ombrello, Ivona Aksentijevich, Daniel L. Kastner
Summary: This study discovered that ROSAH syndrome is an autoinflammatory disease caused by ALPK1 gene mutations. Patients with ROSAH syndrome often exhibit signs of inflammation and show sensitivity to anti-cytokine therapy.
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Article
Genetics & Heredity
Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J. M. Dingemans, Dmitrijs Rots, Lukas Lutje, Tazeen Ashraf, Rachel Baker, Mouna Barat-Houari, Brad Angle, Nicolas Chatron, Anne-Sophie Denomme-Pichon, Orrin Devinsky, Christele Dubourg, Frances Elmslie, Houda Zghal Elloumi, Laurence Faivre, Sarah Fitzgerald-Butt, David Genevieve, Jacqueline A. C. Goos, Benjamin M. Helm, Usha Kini, Amaia Lasa-Aranzasti, Gaetan Lesca, Sally A. Lynch, Irene M. J. Mathijssen, Ruth McGowan, Kristin G. Monaghan, Sylvie Odent, Rolph Pfundt, Audrey Putoux, Jeroen van Reeuwijk, Gijs W. E. Santen, Erina Sasaki, Arthur Sorlin, Peter J. van der Spek, Alexander P. A. Stegmann, Sigrid M. A. Swagemakers, Irene Valenzuela, Eleonore Viora-Dupont, Antonio Vitobello, Stephanie M. Ware, Mathys Weber, Christian Gilissen, Karen J. Low, Simon E. Fisher, Lisenka E. L. M. Vissers, Maggie M. K. Wong, Tjitske Kleefstra
Summary: This study indicates that pathogenic ANKRD11 missense variants cause KBG syndrome with distinct features. Disrupted transrepression capacity and reduced protein stability both result in the loss of ANKRD11 function.
GENETICS IN MEDICINE
(2022)
Article
Allergy
Narissara Suratannon, Chupong Ittiwut, Willem A. Dik, Rungnapa Ittiwut, Kornvalee Meesilpavikkai, Nipan Israsena, Praewphan Ingrungruanglert, Virgil A. S. H. Dalm, Paul L. A. van Daele, Anapat Sanpavat, Nataruks Chaijitraruch, Benjamin Schrijver, Supranee Buranapraditkun, Thantrira Porntaveetus, Sigrid M. A. Swagemakers, Hanna IJspeert, Tanapat Palaga, Kanya Suphapeetiporn, Peter J. van der Spek, Nattiya Hirankarn, Pantipa Chatchatee, P. Martin van Hagen, Vorasuk Shotelersuk
Summary: A gain-of-function variant in the STAT6 gene is associated with early-onset multiorgan allergies in humans. This variant leads to spontaneous activation of the STAT6 signaling pathway, resulting in severe allergic phenotypes. The findings contribute to a better understanding of the molecular mechanisms underlying allergies and may open up new therapeutic possibilities.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2023)
Letter
Immunology
Rogier T. A. van Wijck, Sigrid M. A. Swagemakers, Peter J. van der Spek, P. Martin van Hagen, Paul L. A. van Daele
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Genetics & Heredity
Daphne J. Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A. A. Demmers, Dick H. W. Dekkers, Antonio Romito, Peter J. van der Spek, Tjakko J. van Ham, Aida M. Bertoli-Avella, Grazia M. S. Mancini
Summary: CLEC16A is a membrane-associated C-type lectin protein that regulates autophagy and mitophagy. It is associated with various auto-immune and neurological disorders and has a role in neurodevelopment. In this study, CLEC16A truncating variants were identified in patients with severe neurodevelopmental disorder. The truncated CLEC16A lost its localization and interaction with other proteins, leading to disrupted vesicle sorting and dysregulated mitophagy. This study highlights the importance of CLEC16A in endosomal sorting and its role in neurodegeneration and brain development.
Article
Biochemistry & Molecular Biology
Jessie W. Brunner, Hanna C. A. Lammertse, Annemiek A. van Berkel, Frank Koopmans, Ka Wan Li, August B. Smit, Ruud F. Toonen, Matthijs Verhage, Sophie van der Sluis
Summary: This study compares different designs and statistical analysis methods used in iPSC research, and finds that commonly used case-control designs are generally underpowered. The study suggests that multiple isogenic pair designs can increase power and require fewer lines. A free web tool is provided for exploring the power of different study designs using any (pilot) data.
MOLECULAR PSYCHIATRY
(2023)
Article
Endocrinology & Metabolism
Marie de Bakker, Teun B. Petersen, K. Martijn Akkerhuis, Magdalena Harakalova, Victor A. Umans, Tjeerd Germans, Kadir Caliskan, Peter D. Katsikis, Peter J. van der Spek, Navin Suthahar, Rudolf A. de Boer, Dimitris Rizopoulos, Folkert W. Asselbergs, Eric Boersma, Isabella Kardys
Summary: This study found minimal sex differences in circulating proteins in heart failure patients. The association between sex-specific cardiovascular protein profiles and adverse outcomes may improve understanding of the pathophysiology of heart failure and aid in prognostication in women and men using protein measurements.
BIOLOGY OF SEX DIFFERENCES
(2023)
Article
Biochemistry & Molecular Biology
Eelke M. M. Bos, Elena Binda, Iris S. C. Verploegh, Eva Wembacher, Daphna Hoefnagel, Rutger K. K. Balvers, Anne L. L. Korporaal, Andrea Conidi, Esther A. H. Warnert, Nadia Trivieri, Alberto Visioli, Paola Zaccarini, Laura Caiola, Rogier van Wijck, Peter van der Spek, Danny Huylebroeck, Sieger Leenstra, Martine L. M. Lamfers, Zvi Ram, Manfred Westphal, David Noske, Federico Legnani, Francesco DiMeco, Angelo Luigi Vescovi, Clemens M. F. Dirven
Summary: This study evaluates the safety and efficacy of intra- and peritumoral administration of hrBMP4 in recurrent glioblastoma. The results show that local delivery of hrBMP4 is safe and well-tolerated, and some patients responded positively to the treatment. Further clinical studies are warranted.
Article
Multidisciplinary Sciences
Tanja C. W. Nijboer, Ellen V. S. Hessel, Gijs W. van Haaften, Martine J. van Zandvoort, Peter J. van der Spek, Christine Troelstra, Carolien G. F. de Kovel, Bobby P. C. Koeleman, Bert van der Zwaag, Eva H. Brilstra, J. Peter H. Burbach
Summary: This study aimed to explore the genomic regions and candidate genes that potentially cause developmental color agnosia. Through genetic analysis and whole exome sequencing, 19 cosegregating chromosomal regions and 11 rare coding variants were identified.
Article
Neurosciences
Johanna L. Heinz, Sigrid M. A. Swagemakers, Joanna von Hofsten, Marie Helleberg, Michelle M. Thomsen, Kerstin De Keukeleere, Joke H. de Boer, Tomas Ilginis, Georges M. G. M. Verjans, Peter M. van Hagen, Peter J. van der Spek, Trine H. Mogensen
Summary: By analyzing the genetic sequencing of ARN patients caused by HSV or VZV, we identified disease-associated genetic variants that are mainly concentrated in genes related to innate immunity, adaptive immunity, autophagy, and apoptosis.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Article
Medicine, General & Internal
Teun B. Petersen, Marie de Bakker, Folkert W. Asselbergs, Magdalena Harakalova, K. Martijn Akkerhuis, Jasper J. Brugts, Jan van Ramshorst, R. Thomas Lumbers, Rachel M. Ostroff, Peter D. Katsikis, Peter J. van der Spek, Victor A. Umans, Eric Boersma, Dimitris Rizopoulos, Isabella Kardys
Summary: This study identified four distinct subphenotypes of HFrEF based on circulating protein profiles, which had different prognosis and clinical characteristics. These findings can provide insights into the underlying biological mechanisms and personalized treatment opportunities for patients with HFrEF.
