Article
Medicine, General & Internal
Pierluigi Marzuillo, Pier Luigi Palma, Anna Di Sessa, Agnese Roberti, Giovanni Torino, Maeva De Lucia, Emanuele Miraglia del Giudice, Stefano Guarino, Giovanni Di Iorio
Summary: The aim of this study was to determine whether early measurements of serum aldosterone levels or plasmatic renin activity (PRA) could predict the need for surgical intervention in infants with obstructive congenital anomalies of kidney and urinary tract (CAKUT). A total of 20 infants aged 1-3 months with suspected obstructive CAKUT were prospectively enrolled and followed up for 2 years. The results showed that infants who required surgery had significantly higher levels of aldosterone at 1-3 months compared to those who did not require surgery (p = 0.006). The ROC curve analysis identified a cut-off of 100 ng/dL for aldosterone, which predicted the need for surgery with 100% sensitivity and 64.3% specificity. However, PRA measured at 1-3 months was not a predictor of surgery. In conclusion, early measurements of serum aldosterone levels can serve as a predictor for surgical intervention in infants with obstructive CAKUT.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cell Biology
Lihong Tan, Minghui Yu, Yaxin Li, Shanshan Xue, Jing Chen, Yihui Zhai, Xiaoyan Fang, Jialu Liu, Jiaojiao Liu, Xiaohui Wu, Hong Xu, Qian Shen
Summary: Congenital anomalies of the kidney and urinary tract (CAKUT) is a common birth defect caused by complex genetic and environmental factors. Recent studies have suggested the involvement of long non-coding RNAs in the development of the kidney and urinary tract system. Research using PB transposon-based mutagenesis found that abnormal expression of Rik may lead to a reduction in UB branches by downregulating Bmp4, contributing to the development of CAKUT.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Aurelien Scalabre, Yohann Clement, Florence Guilliere, Sophie Ayciriex, Segolene Gaillard, Delphine Demede, Aurore Bouty, Pierre Lanteri, Pierre-Yves Mure
Summary: This study utilizes H-1 Nuclear Magnetic Resonance spectroscopy (NMR) to analyze urine samples from newborns and identifies specific urinary biomarkers for the diagnosis of ureteropelvic junction obstruction (UPJO). The findings of this study provide a new method for the diagnosis of prenatal hydronephrosis.
SCIENTIFIC REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Nela Kelam, Anita Racetin, Mirjana Polovic, Benjamin Benzon, Marin Ogorevc, Katarina Vukojevic, Merica Glavina Durdov, Ana Dunatov Huljev, Ivana Kuzmic Prusac, Davor Caric, Fila Raguz, Sandra Kostic
Summary: This study investigates the expression patterns of candidate genes for kidney and urinary tract congenital anomalies in human fetal kidney development. The results reveal significant variations in the expression patterns of these genes, suggesting their involvement in CAKUT pathophysiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pediatrics
Marietta Jank, Raimund Stein, Nina Younsi
Summary: This study reviews a single-center retrospective analysis from 2016 to 2020 on patients diagnosed with cLUTO, with a focus on the timing and type of intervention. The results show that 55% of the 71 cLUTO patients received VAS. A more detailed discussion was conducted on patients with temporary drainage via percutaneous VAS.
FRONTIERS IN PEDIATRICS
(2021)
Article
Infectious Diseases
Kaiping Zhang, Yin Zhang, Min Chao, Zongyao Hao
Summary: The study aimed to detect the distribution of pathogenic bacteria and their antibiotic susceptibility among children with congenital anomalies of the kidney and urinary tract (CAKUT). A total of 568 children were included in the retrospective analysis. The most prevalent uropathogens were Escherichia coli, followed by Enterococcus faecalis and Enterococcus faecium. These uropathogens showed high resistance to commonly used antibiotics, and multiple drug resistance (MDR) was commonly observed.
INFECTION AND DRUG RESISTANCE
(2023)
Article
Pediatrics
Jiandong Lu, Xiaozhu Liu, Yi Wei, Chengjun Yu, Jie Zhao, Ling Wang, Yang Hu, Guanghui Wei, Shengde Wu
Summary: This study investigated the clinical features and microbial etiology of urinary tract infection (UTI) in children. It found that Escherichia coli was the most common causative microorganism of UTI. Furthermore, children with urological malformations were more likely to develop UTI with atypical microorganisms and required longer treatment, higher treatment costs, and had a higher prevalence of recurrence.
FRONTIERS IN PEDIATRICS
(2022)
Article
Urology & Nephrology
Ronit Calderon-Margalit, Gil Efron, Oren Pleniceanu, Dorit Tzur, Michal Stern-Zimmer, Arnon Afek, Tomer Erlich, Estela Derazne, Jeremy D. Kark, Lital Keinan-Boker, Gilad Twig, Asaf Vivante
Summary: The study revealed that individuals with congenital anomalies of the kidney and urinary tract (CAKUT) had a significantly increased risk of developing urinary tract (UT) cancer in adulthood, particularly before 45 years of age for women and after 45 years of age for men. Despite the increased risk, the incidence and absolute risk of UT cancer remained relatively low.
KIDNEY INTERNATIONAL REPORTS
(2021)
Review
Acoustics
N. Vinit, B. Bessieres, E. Spaggiari, L. Heidet, M. -C. Gubler, S. Dreux, T. Attie-Bitach, T. Blanc, Y. Ville
Summary: This study aimed to identify favorable renal histology in fetuses with early severe lower urinary tract obstruction (LUTO) and determine the best timing and selection criteria for prenatal surgery. The study found that around 30% of fetuses with severe LUTO still have potential for kidney development before 18 weeks. The findings are important for identifying cases suitable for prenatal therapy.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Genetics & Heredity
Kathleen A. Drexler, Asha N. Talati, Kelly L. Gilmore, Rachel V. Veazey, Bradford C. Powell, Karen E. Weck, Erica E. Davis, Neeta L. Vora
Summary: This study evaluates whether deep prenatal phenotyping of fetal brain abnormalities increases the diagnostic yield of trio-exome sequencing compared with standard phenotyping. The results show that deep phenotyping is not associated with an increased diagnostic yield of ES for FBA in this small cohort, while neural tube defects are associated with negative ES results.
GENETICS IN MEDICINE
(2023)
Article
Urology & Nephrology
Talia Israel, Weissbach Tal, Yael Pasternak, Alina Weissmann-Brenner
Summary: This retrospective study looked at the short and long-term outcomes of children prenatally diagnosed with CAKUT. It found that children with major renal anomalies experienced more recurrent UTIs, required more preventive antibiotics, and had more renal surgeries than those with milder forms of CAKUT. Children diagnosed with CAKUT in utero usually had good outcomes during the first decade of life.
JOURNAL OF NEPHROLOGY
(2022)
Article
Environmental Sciences
Yuka Iwaya, Masafumi Sanefuji, Kei Nishiyama, Yuri Sonoda, Norio Hamada, Reiko Suga, Masayuki Ochiai, Masayuki Shimono, Koichi Kusuhara, Shouichi Ohga
Summary: This study found that a higher concentration of manganese in maternal blood was associated with a reduced risk of complicated congenital anomalies of the kidney and urinary tract (CAKUT) in offspring. This finding contributes to the understanding of the impact of metal elements on fetal development.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Genetics & Heredity
Ling Liu, Juan Li, Ying Li, Haiyu Li, Bo Yang, Hui Fan, Jing Wang, Yanting Gu, Hui Yu, Maohuan Bai, Tantan Yu, Shihong Cui, Guomei Cheng, Chenchen Ren
Summary: This study aimed to investigate the correlations between fetal renal abnormalities on prenatal ultrasound and genetic aetiologies using chromosomal microarray analysis (CMA) and whole-exome sequencing (WES). The results showed different detection rates for chromosomal abnormalities and monogenic variants among different types of renal abnormalities.
PRENATAL DIAGNOSIS
(2022)
Article
Medicine, General & Internal
Abdulgani Gulyuz, Mehmet Tekin
Summary: This study aimed to investigate the efficacy of postnatal ultrasonography in detecting congenital anomalies of the kidneys and urinary tract in term infants without prenatal history of congenital anomalies. The results showed that about one-third of urinary tract anomalies were not detected in prenatal ultrasonography screening, indicating the importance of postnatal screening for all children.
Article
Multidisciplinary Sciences
Pedro F. S. Freitas, Augusto Q. Coelho, Homero Bruschini, Eric S. Rovner, Cristiano M. Gomes
Summary: PBNO in women can lead to severe damage to the bladder and upper urinary tract. Despite severe structural abnormalities of the bladder, BNI was effective in reducing symptoms and improving structural and functional abnormalities of the lower and upper urinary tract.
Article
Cell Biology
Giulia Piccirilli, Liliana Gabrielli, Maria Paola Bonasoni, Angela Chiereghin, Gabriele Turello, Eva Caterina Borgatti, Giuliana Simonazzi, Silvia Felici, Marta Leone, Nunzio Cosimo Mario Salfi, Donatella Santini, Tiziana Lazzarotto
Summary: This study evaluates the characteristics and pathogenetic mechanisms of brain damage in congenital HCMV infection. HCMV preferentially infects neural stem/progenitor cells and neuronal committed cells, leading to structural and functional brain defects.
CELLULAR AND MOLECULAR NEUROBIOLOGY
(2023)
Article
Pathology
Pedro Teixeira Castro, Heron Werner, Edward Araujo Junior, Maria Paola Bonasoni, Gabriele Tonni
Summary: This case report describes a pregnant woman infected with Zika virus, resulting in microcephaly in the newborn, and presents the related imaging and histopathological findings. Long-term follow-up revealed severe neurological symptoms in the affected child.
FETAL AND PEDIATRIC PATHOLOGY
(2023)
Letter
Acoustics
G. Tonni, G. Grisolia, G. Rizzo, R. Ruano, W. Sepulveda
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Pathology
Maria Paola Bonasoni, Giuseppina Comitini, Ottavia Cavicchioni, Veronica Barbieri, Giulia Dalla Dea, Andrea Palicelli, Lorenzo Aguzzoli
Summary: This is a case of a 17-week-old fetus with a vesico-allantoic cyst, presenting with bilateral dilatation of the renal pelvis, hydroureters, and hypospadias. Autopsy confirmed the prenatal findings and revealed intestinal malrotation and Meckel's diverticulum. This case highlights the association between the vesico-allantoic cyst and genito-urinary and intestinal anomalies.
FETAL AND PEDIATRIC PATHOLOGY
(2023)
Article
Pathology
Gabriele Tonni, Cagla Kocak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Junior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni, Mario Lituania
Summary: VACTERL association is a structural abnormality syndrome characterized by vertebral, anorectal, cardiac, tracheo-esophageal, renal, and limb defects. Vertebral anomalies are the most common feature, seen in 60-80% of cases. Tracheo-esophageal fistula is present in 50-80% of cases and renal malformations in 30% of patients. Limb defects, including thumb aplasia/hypoplasia, polydactyly, and radial agenesis/hypoplasia, occur in 40-50% of cases. Anorectal defects, such as imperforate anus/anal atresia, are challenging to detect prenatally. The diagnosis relies on imaging techniques and differential diagnosis with similar diseases is necessary.
FETAL AND PEDIATRIC PATHOLOGY
(2023)
Review
Microbiology
Elena Giovannini, Maria Paola Bonasoni, Jennifer Paola Pascali, Arianna Giorgetti, Guido Pelletti, Giancarlo Gargano, Susi Pelotti, Paolo Fais
Summary: Fetal inflammatory response syndrome (FIRS) is a fetal inflammatory reaction to intrauterine infection or injury, which can lead to multiorgan impairment, neonatal mortality, and morbidity. Infections induce FIRS after chorioamnionitis (CA), funisitis, and chorionic vasculitis. FIRS involves various molecules, such as cytokines and chemokines, that can directly or indirectly damage fetal organs. Medical liability is frequently claimed in cases of FIRS due to its complex etiology and multiple organ dysfunction, particularly brain injury.
Article
Cardiac & Cardiovascular Systems
Alberto Borges Peixoto, Nathalie Jeanne Bravo-Valenzuela, Wellington P. Martins, Gabriele Tonni, Antonio Fernandes Moron, Rosiane Mattar, Rodrigo Ruano, Liliam Cristine Rolo, Edward Araujo Junior
Summary: This study aimed to assess the impact of overweight and obesity in the second and third trimesters of pregnancy on fetal cardiac function parameters. The results showed that overweight and obese pregnant women had higher fetal left ventricular modified myocardial performance index (Mod-MPI) and right ventricular E' compared to normal weight pregnant women. However, there were no differences between the groups in terms of 5-min APGAR score < 7, neonatal intensive care unit admission, hypoglycemia and hyperglobulinemia.
CARDIOLOGY IN THE YOUNG
(2023)
Editorial Material
Acoustics
Gabriele Tonni, Gianpaolo Grisolia
JOURNAL OF CLINICAL ULTRASOUND
(2023)
Editorial Material
Acoustics
Gabriele Tonni, Alessia Pinto, Annalisa Bianchi, Marlene Pisello, Gianpaolo Grisolia
JOURNAL OF CLINICAL ULTRASOUND
(2023)
Article
Health Care Sciences & Services
Gabriele Tonni, Mario Lituania, Alessandro Cecchi, Elisa Carboni, Serena Resta, Maria Paola Bonasoni, Rodrigo Ruano
Summary: This article aims to describe the pathophysiology of umbilical cord diseases and their association with obstetric and perinatal outcomes. A multicenter case series of umbilical cord diseases is presented, including prenatal ultrasound findings, clinical features, and postnatal outcomes. The analysis shows that umbilical cord diseases are linked to a variety of obstetric complications, leading to a higher risk of poor perinatal outcomes. Understanding the pathophysiology and clinical presentations of these diseases can help in prenatal counseling and management to prevent severe complications.
Article
Obstetrics & Gynecology
Ruben Ramirez Zegarra, Daniela Casati, Nicola Volpe, Mariano Lanna, Andrea Dall'Asta, Annasole Chiarelli, Francesca Ormitti, Antonio Percesepe, Elisa Montaguti, Corinne Labadini, Ginevra Salsi, Elvira di Pasquo, Maria Paola Bonasoni, Edwin Quarello, Gianluigi Pilu, Giampaolo Grisolia, Andrea Righini, Tullio Ghi
Summary: This study aimed to describe the cortical invagination sign, a specific sonographic feature of focal cortical dysgyria consistently seen in fetuses with complete agenesis of the corpus callosum. The study found that this sign was present in 20.3% of cases, exclusively unilateral and on the left cerebral hemisphere. It also noted a higher proportion of male fetuses in cases with this sign, although not statistically significant.
AMERICAN JOURNAL OF OBSTETRICS & GYNECOLOGY MFM
(2023)
Article
Medicine, Legal
Federica Grimaldi, Maria Paola Bonasoni, Guido Pelletti, Liliana Gabrielli, Susi Pelotti
Summary: We report a case of a 23-month-old child who died within 24 h after the onset of cardiac symptoms. Autopsy revealed mild cardiac histological findings despite severe clinical features. The challenge in reaching an etiological diagnosis was the suspicion of a viral causative role without clear microbiological evidence. This case highlights the importance of a holistic approach integrating ante- and post-mortem diagnostic tests to accurately evaluate the cause of death.
FORENSIC SCIENCE MEDICINE AND PATHOLOGY
(2023)
Review
Medicine, Legal
Elena Giovannini, Maria Paola Bonasoni, Marcellino Bardaro, Giuseppe Russello, Edoardo Carretto, Alessandro Zerbini, Giancarlo Gargano, Susi Pelotti
Summary: Freezing and thawing can alter tissue appearance and structure, and potentially damage individual cells. In forensic investigations, they are crucial in cases with unknown cause of death. This case report discusses the histological artifacts observed in different tissues of a naturally deceased infant after undergoing freezing and thawing.
FORENSIC SCIENCE MEDICINE AND PATHOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Ana Leticia Siqueira Pontes, Caroline Cervantes Chagas, Nathalie Jeanne Bravo-Valenzuela, Alberto Borges Peixoto, Ilenia Mappa, Giuseppe Rizzo, Gabriele Tonni, Edward Araujo Junior
Summary: Reference values for the foramen ovale (FO) area of fetal hearts were determined using three-dimensional (3D) ultrasound and spatio-temporal image correlation (STIC) method. The method showed good intra- and interobserver reproducibility and could be used to assess different types of congenital heart disease (CHD).
INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
(2023)
