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13 pages, 601 KiB

Open AccessArticle

Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center

by Silvia Ventresca, Laura Chioma, Rosario Ruta, Mafalda Mucciolo, Pasquale Parisi, Agnese Suppiej, Sandro Loche, Marco Cappa and Carla Bizzarri

Children 2025, 12(7), 954; https://doi.org/10.3390/children12070954 - 19 Jul 2025

Viewed by 447

Abstract

Background: Differences of sex development (DSD) are a group of congenital conditions characterized by atypical development of genital structures. The diagnosis is complex and involves clinical, hormonal, and genetic evaluations. Objective: To describe the clinical profile, diagnosis, and management of patients with DSD, with particular attention to genetic diagnosis. Study design: Retrospective study from a tertiary care pediatric hospital in Italy. Methods: 420 patients with DSD referred to the Endocrine Unit of Bambino Gesù Children’s Hospital in Rome, Italy, between 2016 and 2023 were included. Results: 75 patients had a 46,XY karyotype, 135 had a 46,XX karyotype, and 210 had chromosomal mosaicism. In our group of pediatric DSD patients, 21/420 patients were born from pregnancies induced with assisted reproduction techniques (ICSI/FIVET). Of these 21 patients, 5 had sex chromosome mosaicism. Using next-generation sequencing (NGS), we identified three new genetic variants: one in the AR gene, one in the NR5A1 gene, and one in the SRY gene. The use of NGS significantly improved the diagnostic yield, and a definitive diagnosis was reached in 84.76% of the entire cohort. Conclusions: This study highlights the challenges in the management of patients with DSD from early recognition to treatment and follow-up. A multidisciplinary approach is essential for a comprehensive evaluation of these conditions and to understand the role and clinical significance of the genetic variants. Full article

(This article belongs to the Section Pediatric Endocrinology & Diabetes)

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43 pages, 9566 KiB

Open AccessArticle

Large Concrete Rubble as a New Structural Construction Material: Opportunities and Digital Processes for Load-Bearing Walls

by Maxence Grangeot, Malena Bastien-Masse, Corentin Fivet and Stefana Parascho

Buildings 2025, 15(9), 1437; https://doi.org/10.3390/buildings15091437 - 24 Apr 2025

Cited by 1 | Viewed by 1065

Abstract

Concrete is amongst the most wasted materials on earth, mainly due to building demolitions. Currently, after a building’s end of life, concrete is crushed to be used as replacement gravel in new concrete mixes or for backfilling. Aiming to increase the circularity of the construction industry, this article presents design explorations and a design-to-construction process for building single-leaf masonry walls from large flat demolition concrete rubble, thus avoiding the need for further crushing after initial demolition. The proposed process augments the capabilities of conventional construction machinery with new digital control and sensing devices that are widely available on the market and at low cost. The design-to-construction process is implemented through methods of physical prototyping and load testing of a full-scale demonstrator to benchmark the construction precision and the structural, environmental, and productivity performances. The results highlight the viability and scalability of the approach, calling for a more systematic reuse of concrete rubble as it allows for the construction of low-carbon masonry structures while diverging part of concrete waste from downcycling and landfilling. Full article

(This article belongs to the Special Issue Advances in Concrete Technology for Sustainable Architecture)

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35 pages, 7346 KiB

Open AccessArticle

How Gained Experience Influences Perceived Levers and Barriers of Reuse Practices: Learning from North Americans

by Barbara Lambec, Maléna Bastien-Masse and Corentin Fivet

Sustainability 2024, 16(24), 10999; https://doi.org/10.3390/su162410999 - 15 Dec 2024

Cited by 1 | Viewed by 1224

Abstract

This study delves into how the perception of levers and barriers for building element reuse evolves over time as individuals and practices gain experience on this topic. Three periods of business development are compared: the genesis of practice; the current situation; and future projection. The results are drawn from semi-structured interviews with 35 stakeholders from industry, academia, and government in North America. They were invited to address questions about scales, means of demand generation and adaptation, tools and capacities, and stakeholder knowledge and skills. Questions to explore neutral aspects of their practice as well as levers or barriers were also asked. A post-interview analysis identified 14 factors that influence the overall perception of challenges. It also emphasized their interconnectedness over time, allowing for a more nuanced understanding than previous synchronic studies and prioritizing challenges for different stakeholder types. Unusualness, processes, and communication emerge as time-persistent challenges intricately linked with regulatory dynamics. This study also reaffirms challenges such as costs, community dynamics, and the imperative for a societal shift. This insight assists newcomers in anticipating challenges and selecting their paths while also shedding light on current barriers and informing future projections, guiding policymakers on necessary improvements. Full article

(This article belongs to the Section Psychology of Sustainability and Sustainable Development)

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18 pages, 1349 KiB

Open AccessArticle

Effect of L. crispatus M247 Administration on Pregnancy Outcomes in Women Undergoing IVF: A Controlled, Retrospective, Observational, and Open-Label Study

by Francesco Di Pierro, Francesco Sinatra, Maddalena Cester, Lucia Da Ros, Mara Pistolato, Vania Da Parè, Laura Fabbro, Daniela Maccari, Silvia Dotto, Sara Sossai, Gemma Fabozzi, Alexander Bertuccioli, Massimiliano Cazzaniga, Martino Recchia, Nicola Zerbinati, Luigina Guasti and Andrea Baffoni

Microorganisms 2023, 11(11), 2796; https://doi.org/10.3390/microorganisms11112796 - 17 Nov 2023

Cited by 8 | Viewed by 3972

Abstract

The aim of our study was to retrospectively evaluate whether the oral administration of L. crispatus (M247) could increase pregnancy and live birth rates in women undergoing assisted reproductive technology procedures. Enrolled women (N = 160) were divided into two groups: treated (N = 80) or untreated (N = 80) with the probiotic strain. The odds ratio (OR) for a treated woman to have a clinical pregnancy (CP) was 1.56. In women aged 30–40 years, M247 increased the probability of a CP in correlation with the progressive rise in BMI, reaching 47% (35% in controls) with a BMI of 35 (OR: 2.00). The CAID statistics showed that in a woman of the blastocyst subgroup, below 43 years, with a BMI over 18.6, treatment with M247 increased the chance of a CP from 28.4% to 44.5% (OR: 2.08; p < 0.05). Considering live births, the rate of the probiotic group was 12.5% versus 7.5% (OR: 1.76). Considering only the blastocyst subgroup, the treatment increased the number of live births by 200% (OR: 3.64; p = 0.05). As confirmed also by statistical indices NNT, NNH, and LHH, the use of M247 demonstrated a risk-benefit ratio to the full advantage of the benefits. Full article

(This article belongs to the Section Medical Microbiology)

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8 pages, 532 KiB

Open AccessCase Report

Early and Innovative Rehabilitation in Warkany Syndrome 2 Associated with Agenesis of the Corpus Callosum: A Case Report

by Carmela Settimo, Lilla Bonanno, Maria Tresoldi, Rosalia Muratore, Francesca Cucinotta, Emanuela Tripodi, Adriana Piccolo, Smeralda Anchesi and Caterina Impallomeni

Children 2022, 9(5), 722; https://doi.org/10.3390/children9050722 - 14 May 2022

Cited by 3 | Viewed by 3127

Abstract

Trisomy 8 mosaicism syndrome (T8MS) or “Warkany’s syndrome 2” is a rare chromosomal disorder characterized by three copies of chromosome 8 in some cells of the body. T8MS incidence in the world population is about 1/25,000–50,000 live births with a 5:1 ratio between males and females. Since chromosomal mosaicism is often present in this syndrome, affected subjects present a phenotype varying from mild dysmorphism to severe structural anomalies. Malformations, including corpus callosum agenesis and renal abnormalities, have been described by many studies. We present a case in a girl 36 months in age, born to assisted fertilization (FIVET) and prenatal diagnosis by amniocentesis. In a fetus in the 22 week of gestation, she presented trisomy 8 mosaicism with ventriculomegaly, agenesis of the corpus callosum and a sequence of polymalformations. Through the early identification of symptoms that gradually occurred during development, the girl was submitted, early, to innovative complex instrumental using virtual reality (VR) rehabilitation. This study involves continuous monitoring and early management of symptoms, with the aim of improving the neurobehavioral outcomes of children with this rare disease by inducing structural neuroplastic responses and significantly reducing the impact that this disorder has on the development of children born without corpus callosum. Full article

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