Article
Pediatrics
Chika Hosokawa, Kiyohiko Hotta, Takayuki Okamoto, Yuko Cho, Takayuki Hirose, Naoya Iwahara, Atsushi Manabe, Nobuo Shinohara
Summary: This case report describes a patient with Denys-Drash syndrome who underwent prophylactic bilateral nephrectomy and kidney transplantation despite not having developed kidney failure or Wilms tumor by the age of 7 years. Although controversial, this treatment option may be optimal for patients who are physically able to undergo kidney transplantation, considering the potentially lethal nature of Wilms tumor in patients with chronic kidney disease.
PEDIATRIC NEPHROLOGY
(2023)
Article
Cell & Tissue Engineering
Markus C. Doeser, Julia Krygin, Albrecht Roepke, Dong Han, Roland Wedlich-Soeldner, Hans R. Schoeler, Hermann Pavenstadt, Kee-Pyo Kim
Summary: An induced pluripotent stem cell line was generated from fibroblasts of a patient with Denys-Drash syndrome, expressing pluripotent stem cell markers and showing potential for differentiation into derivatives of all three germ layers.
STEM CELL RESEARCH
(2022)
Article
Medicine, General & Internal
Nail R. Akramov, Rafael F. Shavaliev, Ilsiya Osipova
Summary: The study described a patient with Wilms' tumors and 46,XY disorder of sexual development, who underwent surgical treatment and showed no pathological conditions requiring treatment at the last follow-up at the age of 8 years. A newly identified heterozygous mutation in exon 7 of the Wilms' tumor suppressor gene 1 (WT1) gene was discovered in the patient, causing incomplete Denys-Drash syndrome.
Article
Pediatrics
Huanru Chen, Miao Zhang, Jinai Lin, Jieyi Lu, Fazhan Zhong, Fu Zhong, Xia Gao, Xin Liao
Summary: This study aimed to analyze the clinical characteristics of nephropathy associated with WT1 gene mutations in Chinese children and explore the relationship between genotype and clinical phenotype. The findings revealed a strong correlation between WT1 gene mutations and the development and clinical features of nephropathy.
FRONTIERS IN PEDIATRICS
(2023)
Article
Medical Laboratory Technology
Faliang Wang, Jiabin Cai, Jinhu Wang, Min He, Junqing Mao, Kun Zhu, Manli Zhao, Zhonghai Guan, Linjie Li, Hongchuan Jin, Qiang Shu
Summary: The study identified a case of Denys-Drash syndrome with an uncommon missense mutation in the WT1 gene, which may serve as a crucial marker in DDS. The mutated variant showed a weaker effect in inhibiting tumor cells compared to the wild-type WT1.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Developmental Biology
Maria T. M. Ferrari, Andreia Watanabe, Thatiane E. da Silva, Nathalia L. Gomes, Rafael L. Batista, Mirian Y. Nishi, Leila C. P. de Paula, Eduardo C. Costa, Elaine M. F. Costa, Priscilla Cukier, Luiz F. Onuchic, Berenice B. Mendonca, Sorahia Domenice
Summary: Pathogenic variants of WT1 gene can cause various disorders, including DDS and FS syndromes, with new phenotypes such as testicular/ovarian-testicular disorders of sex development. These variants affect aspects such as germ cell tumors, reproductive organ development, and kidney function, highlighting their clinical implications for genetic diagnosis.
SEXUAL DEVELOPMENT
(2021)
Article
Nutrition & Dietetics
Kota Shiozawa, Misato Maeda, Hsin-Jung Ho, Tomoko Katsurai, Md Zakir Hossain Howlader, Kimiko Horiuchi, Yumi Sugita, Yusuke Ohsaki, Afifah Zahra Agista, Tomoko Goto, Michio Komai, Hitoshi Shirakawa
Summary: The study found that supplementation of biotin increased testosterone levels in mice and testis-derived cells. This effect was mediated by the activation of adenylate cyclase and protein kinase A. These findings suggest that biotin may have the potential to improve age-related male syndromes associated with declining testosterone production.
Article
Behavioral Sciences
Jessica L. Sharp, Tallia Pearson, Mark A. Smith
Summary: Research has shown that there are sex differences in endogenous opioid peptides and receptors, resulting in functional differences in sensitivity to opioid receptor mediated behaviors between males and females. This review focuses on the influence of androgens on these effects and suggests that further investigation may lead to new treatment options for conditions like chronic pain and substance use disorders.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2022)
Article
Endocrinology & Metabolism
Mara Sanches Guaragna, Felipe Lourenco Ledesma, Victoria Zavanelli Manzano, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior, Marcelo Milone Silva, Pedro Luiz de Brito, Maricilda Palandi de Mello
Summary: This article reports a case of bilateral WT and genital ambiguity. Through molecular testing, it was found that the patient had a novel variant in the WT1 gene, which disrupted the nuclear localization signal region and resulted in the severe condition of WT.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2022)
Article
Fisheries
Helena Robattini Carvalho, Diogenes Henrique De Siqueira-Silva, Romulo Batista Rodrigues, Louise Nex Spica, Daniel Antonio Rotili, Everton Luis Zardo, Andrea Giannotti Galuppo, Renata Villar, Juan Ramon Esquivel-Muelbert, Jayme Aparecido Povh, Leonardo Barcellos, Danilo Pedro Streit Jr
Summary: The effect of temperature on gonadal development and sex ratio in Brycon orbignyanus was assessed in this study. Fish were kept at three different temperatures (20°C, 23°C, and 26°C) from the beginning of exogenous feeding. Results showed that the sexual pattern was temperature-dependent, with undifferentiated individuals at 20°C and a higher proportion of immature males at 23°C and males in maturation process and regression phase at 26°C. Testosterone levels were quantified in all treatments, while detectable estradiol levels were found only at 23°C. Continuous exposure to 23°C and 26°C favored testicular development, with faster gonadal development observed at 26°C.
Review
Biochemistry & Molecular Biology
Mengwei Li, Noriyoshi Usui, Shoichi Shimada
Summary: Sexual differentiation is a crucial process that leads to sex differences. Understanding the causes and mechanisms behind these differences can provide valuable insights into the development of neurodevelopmental disorders with sex biases. This review examines the association between prenatal testosterone exposure and the development of autism spectrum disorder (ASD), as well as the sex-specific behaviors in individuals with ASD. It also explores the potential role of maternal immune activation-induced developmental abnormalities in ASD and suggests a future approach for studying sex biases in ASD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Behavioral Sciences
Melissa C. Knouse, Lisa A. Briand
Summary: Females exhibit stronger behavioral responses than males to drugs like cocaine and opioids, possibly driven by ovarian hormones. While there are overlapping neural mechanisms underlying cocaine and opioid abuse, they have divergent effects on synaptic plasticity. This suggests that behavioral sex differences in substance use disorder may be driven by different mechanisms depending on the drug class.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2021)
Article
Cell Biology
Mark W. Pataky, Surendra Dasari, Kelly L. Michie, Kyle J. Sevits, A. Aneesh Kumar, Katherine A. Klaus, Carrie J. Heppelmann, Matthew M. Robinson, Rickey E. Carter, Ian R. Lanza, K. Sreekumaran Nair
Summary: There are substantial differences in cardio-metabolic risk, muscle size, and performance between men and women. These differences are mainly related to testosterone and estradiol, and less related to genes on the Y chromosome. Exercise training and age can affect the transcriptional responses of muscle, and hormonal changes may explain age-related differential expression of transcripts.
Article
Pathology
A. B. Karmila, Y. C. Yap, M. Appadurai, L. Oh, M. Fazarina, F. Abd Ghani, H. Ariffin
Summary: Denys-Drash Syndrome (DDS) is a syndrome with diverse clinical and pathological presentations that include pseudohermaphroditism, Wilms'tumor, and nephropathy. There is no universal recommendation for optimal management due to the variability in progression among affected individuals.
FETAL AND PEDIATRIC PATHOLOGY
(2021)
Review
Pharmacology & Pharmacy
Cosimo Andrea Stamerra, Paolo Di Giosia, Claudio Ferri, Paolo Giorgini, Zeljko Reiner, Thomas P. Johnston, Amirhossein Sahebkar
Summary: Statins may slightly impair adrenal and/or gonadal steroid hormone production, but do not cause clinically-relevant harmful effects on erectile function and spermatogenesis in men. They have beneficial effects in the treatment of polycystic ovary syndrome in women. Additional research is needed to provide specific clinical recommendations on this topic.
EUROPEAN JOURNAL OF PHARMACOLOGY
(2021)
Review
Pediatrics
Giorgia Contini, Simone Frediani, Valerio Pardi, Francesca Diomedi-Camassei, Alessandro Inserra
Summary: Cystic dysplasia of the rete testis (CDRT) is a rare cause of testicular masses in children and is often associated with other genitourinary anomalies. This study reports a case of a 9-year-old boy and performs a literature review to further understand this pathology.
FRONTIERS IN PEDIATRICS
(2022)
Article
Cell Biology
Koenraad Veys, Sante Princiero Berlingerio, Dries David, Tjessa Bondue, Katharina Held, Ahmed Reda, Martijn van den Broek, Koen Theunis, Mirian Janssen, Elisabeth Cornelissen, Joris Vriens, Francesca Diomedi-Camassei, Rik Gijsbers, Lambertus van den Heuvel, Fanny O. Arcolino, Elena Levtchenko
Summary: In this study, kidney progenitor cells (KPCs) were found in the urine of cystinosis patients, which have the potential for regeneration and can differentiate into functional cells. Gene addition using lentiviral vector technology was effective in reducing cystine levels. This finding provides a novel tool for disease modeling.
Article
Medicine, General & Internal
Ottavio Adorisio, Francesca Diomedi Camassei, Francesco De Peppo
Editorial Material
Urology & Nephrology
Marina Vivarelli, Francesco Emma
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Ester De Leo, Anna Taranta, Roberto Raso, Elena Polishchuk, Valentina D'Oria, Marco Pezzullo, Bianca Maria Goffredo, Sara Cairoli, Francesco Bellomo, Giulia Battafarano, Francesca Diomedi Camassei, Andrea Del Fattore, Roman Polishchuk, Francesco Emma, Laura Rita Rega
Summary: Cysteamine is the only therapy for nephropathic cystinosis, but compliance to therapy is often weak. Genistein, found in soy, has been found to improve kidney injury caused by cystinosis and may represent a potential treatment.
HUMAN MOLECULAR GENETICS
(2023)
Article
Clinical Neurology
Antonello Cardoni, Sabina Barresi, Eleonora Piccirilli, Viola Alesi, Evelina Miele, Isabella Giovannoni, Silvia Genovese, Giada Del Baldo, Francesca Diomedi-Camassei, Manila Antonelli, Felice Giangaspero, Chiara Puggioni, Andrea Carai, Giovanna Stefania Colafati, Angela Mastronuzzi, Marco Gessi, Rita Alaggio, Sabrina Rossi
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Medical Laboratory Technology
Lavinia Santucci, Sara Lomuscio, Aniello Primiano, Riccardo Calvani, Silvia Persichilli, Federica Iavarone, Anna Picca, Francesca Canu, Andrea Urbani, Jacopo Gervasoni
Summary: This study aimed to develop a rapid method for the simultaneous determination of arginine and its metabolites in human plasma. A simple deproteinization procedure and hydrophilic interaction liquid chromatography were used for the pre-analytical and chromatographic separation, respectively. The method showed good recovery, precision, and stability, making it suitable for both research and clinical routine use.
CLINICA CHIMICA ACTA
(2023)
Article
Biochemistry & Molecular Biology
Riccardo Calvani, Jacopo Gervasoni, Anna Picca, Francesca Ciciarello, Vincenzo Galluzzo, Helio Jose Coelho-Junior, Clara Di Mario, Elisa Gremese, Sara Lomuscio, Anna Maria Paglionico, Lavinia Santucci, Barbara Tolusso, Andrea Urbani, Federico Marini, Emanuele Marzetti, Francesco Landi, Matteo Tosato
Summary: Altered L-arginine metabolism and lower nitric oxide (NO) bioavailability were observed in adults with long COVID. Supplementation of L-arginine plus vitamin C significantly increased L-arginine concentrations and L-arginine/ADMA in these individuals, suggesting its potential as a remedy to improve NO bioavailability in long COVID patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Chiara Pellegrino, Valentina Forlini, Federica Lena, Maria Luisa Capitanucci, Francesca Diomedi Camassei, Enrico Castelli, Giovanni Mosiello
Summary: This study aims to report the long-term effects on the bladder wall in children treated with BTX-A. Evaluation of specimens from 36 children who had received ≥5 treatments showed increased edema and chronic inflammation, but not statistically significant, suggesting that repeated BTX-A injections could be considered safe, regardless of congenital or acquired diseases.
Article
Urology & Nephrology
Andrea Spasiano, Aniello Primiano, Jacopo Gervasoni, Pietro Manuel Ferraro
JOURNAL OF NEPHROLOGY
(2023)
Review
Pediatrics
Maria Chiara Lucchetti, Francesca Diomedi-Camassei, Cinzia Orazi, Alice Tassi
Summary: This study reports on three cases of sclerosing stromal tumor (SST) in young girls who underwent surgery at our clinic, and reviews the literature on this rare ovarian tumor. The study found that SST mainly occurs in young adults, rarely in pediatric and adolescent populations, and certain clinical presentations and tests can indicate the presence of SST.
Meeting Abstract
Pediatrics
Francesca Becherucci, Ester Conversano, Paola Romagnani, Francesco Emma, Marina Vivarelli
PEDIATRIC NEPHROLOGY
(2022)
Meeting Abstract
Pediatrics
Manuela Colucci, Andrea Angeletti, Armando Di Donato, Michela Cioni, Gianluca Caridi, Francesca Lugani, Pietro Ravani, Paolo Cravedi, Francesco Emma, Gian Marco Ghiggeri, Marina Vivarelli
PEDIATRIC NEPHROLOGY
(2022)
Meeting Abstract
Pediatrics
Ester Conversano, Federica Zotta, Francesco Emma, Marina Vivarelli
PEDIATRIC NEPHROLOGY
(2022)
Meeting Abstract
Pediatrics
Francesca De Zan, Matko Marlais, Klaus Arbeiter, Gema Ariceta, Francesca Becherucci, Martine Besouw, Kathrin Burgmaier, Denis Morin, Zdenek Dolezel, Ismail Dursun, Laura Espinosa, Ann Christin Gjerstad, Leire Gondra, Matthew Harmer, Martin Konrad, Sandrine Lemoine, Leire Madariaga, Pierluigi Marzuillo, Davide Meneghesso, Svetlana Papizh, Nikoleta Printza, Karl Schlingmann, Francesco Trepiccione, Yincent Tse, Alexey Tsygin, Anna Wasilewska, Marcus Weitz, Jakub Zieg, Francesco Emma, Detlef Bockenhauer
PEDIATRIC NEPHROLOGY
(2022)