Search Results (8)

The article examines the changes to Italian legislation on assisted reproductive technology (ART) resulting from rulings by Italian courts, highlighting unresolved ethical–legal issues and potential future regulatory approaches consistent with these decisions. Additionally, it addresses the amendment defining surrogacy as “universal crime”, effective as of 18 November 2024. Through an analysis of decisions by the Constitutional Court and the Court of Cassation, it emerges that Law No. 40/2004 has been deemed unconstitutional in relation to the following: heterologous fertilization, the number of embryos that can be created, cryopreservation, the implantation of only healthy embryos, and access to ART for fertile couples. Controversial aspects include the fate of surplus embryos, access to ART for single individuals, and the recognition of parenthood for same-sex couples. The “universal crime” classification of surrogacy raises the possibility of legal consequences for individuals engaging in surrogacy abroad, even where it is lawful. Courts are unlikely to legislate on the allocation of surplus embryos without parliamentary intervention or to allow single individuals access to ART, given the perceived inconsistency with the child’s best interests. However, case-by-case evaluations are essential for recognizing non-biological or non-genetic parents in same-sex relationships and for assessing the effectiveness of the universal crime approach in safeguarding rights and public health. Full article

In 1990, Gorlin et al. described four types of craniofacial duplications: (1) single mouth with duplication of the maxillary arch; (2) supernumerary mouth laterally placed with rudimentary segments; (3) single mouth with replication of the mandibular segments; and (4) true facial duplication, namely diprosopus. We describe a newborn born with wide-spaced eyes, a very broad nose, and two separate mouths. Workup revealed the absence of the corpus callosum and the presence of a brain midline lipoma, wide sutures, and a Chiari I malformation with cerebellar herniation. We conducted a systematic review of the literature and compared all the cases described as diprosopus. In 96% of these, the central nervous system is affected, with anencephaly being the most commonly associated abnormality. Other associated anomalies include cardiac malformations (86%), cleft palate (63%), diaphragmatic hernia (13%), and disorder of sex development (DSD) (13%). Although the facial features are those that first strike the eye, the almost obligate presence of cerebral malformations suggests a disruptive event in the cephalic pole of the forming embryo. No major monogenic contribution has been recognized today for this type of malformation. Full article

The ability to predict the likelihood of a live birth after single fresh embryo transfer is an important part of fertility treatment. While past studies have examined the likelihood of live birth based on the number of oocytes retrieved and cleavage-stage embryos available, the odds of a live birth based on the number of supernumerary blastocysts cryopreserved following a fresh embryo transfer has not been rigorously studied. We performed a retrospective analysis, stratified by age, on patients undergoing their first fresh autologous single day 5 blastocyst transfer to assess relationship between the likelihood of a live birth and number of supernumerary blastocysts cryopreserved. In patients aged <35 years and 35–39 years old, the likelihood of a live birth increased linearly between 1 and 6 supplementary blastocysts and non-linearly if 10 or more blastocysts were cryopreserved. When aged 40 years and above, the likelihood of a live birth increased linearly up to 4 cryopreserved blastocysts and then non-linearly if 10 or more blastocysts were cryopreserved. The present study demonstrated a non-linear relationship between the number of supernumerary blastocysts cryopreserved and the likelihood of a live birth after single blastocyst transfer in the first autologous fresh IVF/ICSI cycle across different age groups. Full article

Cotton (Gossypium spp.) is a major source of natural fiber and an important cash crop. The cotton growth habit and architecture determine its productivity and influence management strategies for commercial production. The GATA transcription factors (TFs) control various developmental processes in plants, such as flower, bract and embryo development, and petal differentiation. As stable transformation is still a bottleneck in many plant species, TRV-VIGS was used to manipulate gene expression in different plants, including Gossypium hirsutum L. In this study, we undertook the TRV-based VIGS to functionally characterize two candidate genes, Gohir.D05G103700 and Gohir.D12G153600, identified through expression QTL analysis for five floral induction and meristem identity genes using the upland cotton mini-core collection. Virus-induced silencing of the Gohir.D05G103700 gene resulted in up to a 1.4-fold reduction in the transcript level in two inoculated plants, G3 and G4, and Gohir.D12G153600 gene resulted in up to a 2.3-fold reduction in transcript level in a single inoculated plant P05 relative to the mock-treated plant. The TRV2-Gohir.D05G103700-inoculated plants G3 and G4 also exhibited loss of the supernumerary (fourth) floral bract in the squares, whereas the TRV2-Gohir.D12G153600-inoculated plants did not show any observable phenotypic change relative to the mock-treated plants. Altogether, this study suggested that TRV-VIGS can be used to characterize genes in cotton relatively rapidly, and the cotton Gohir.D05G103700 gene is a positive regulator of the indeterminate growth habit in cotton, which could be manipulated to obtain a cotton plant with architecture best suited for the cultivation area. Full article

A mesiodens is a supernumerary tooth located in the midline of the premaxilla. To investigate the genetic cause of mesiodens, clinical and radiographic examination were performed on 23 family members of a two-generation Hmong family. Whole exome sequencing (WES) or Sanger sequencing were performed in 22 family members and two unrelated Thai patients with mesiodens. WES in the Hmong family revealed a missense mutation (c.1807G>A;p.Glu603Lys) in PTPN23 in seven affected members and six unaffected members. The mode of inheritance was autosomal dominance with incomplete penetrance (53.84%). Two additional mutations in PTPN23, c.2248C>G;p.Pro750Ala and c.3298C>T;p.Arg1100Cys were identified in two unrelated patients with mesiodens. PTPN23 is a regulator of endosomal trafficking functioning to move activated membrane receptors, such as EGFR, from the endosomal sorting complex towards the ESCRT-III complex for multivesicular body biogenesis, lysosomal degradation, and subsequent downregulation of receptor signaling. Immunohistochemical study and RNAscope on developing mouse embryos showed broad expression of PTPN23 in oral tissues, while immunofluorescence showed that EGFR was specifically concentrated in the midline epithelium. Importantly, PTPN23 mutant protein was shown to have reduced phosphatase activity. In conclusion, mesiodens were associated with genetic variants in PTPN23, suggesting that mesiodens may form due to defects in endosomal trafficking, leading to disrupted midline signaling. Full article

The preservation of fertility in cancer patients is a crucial aspect of modern reproductive medicine. Amenorrhea and infertility often occur after cancer therapy, worsening the quality of life. Cryopreservation of oocytes in young cancer patients is a therapeutic option for preserving fertility. A prospective study was conducted on 508 cancer patients who underwent oocyte cryopreservation to preserve fertility between 1996 and 2021 including the COVID-19 pandemic period. Patients underwent ovarian stimulation, followed by egg retrieval, and oocytes were cryopreserved by slow freezing or vitrification. Sixty-four thawing/warming cycles were performed. Survival, fertilization, pregnancy, and birth rate over the thawing/warming cycles were obtained. The data were compared with those from a group of 1042 nononcological patients who cryopreserved supernumerary oocytes. An average of 8.8 ± 6.9 oocytes were retrieved per cycle, and 6.1 ± 4.2 oocytes were cryopreserved. With their own stored oocytes, 44 patients returned to attempt pregnancy. From a total of 194 thawed/warmed oocytes, 157 survived (80%). In total, 100 embryos were transferred in 57 transfer/cycles, and 18 pregnancies were achieved. The pregnancy rate per transfer and pregnancy rate per patient were 31% and 41%, respectively. No statistically significant differences were observed between oncological patients and nononcological patients. A total of 15 babies were born from oncological patients. Children born showed normal growth and development. One minor malformation was detected. Full article

The burden of deciding the fate of the supernumerary human embryo created in vitro in the context of Assisted Reproductive Technologies rests on the beneficiary couples or individuals who conceived the parental project. The beneficiaries must also take on the responsibility of choosing whether to donate surplus embryos either to others or to scientific research, or to request their destruction. Vulnerable beings, weakened from the point of view of their identity (facing the social stigma still associated with some circumstances such as being infertile, lesbian or a single mother), are required to have skills such as reflexivity and autonomy in dramatic situations that concern their relationship with their own reproductive body. Given the urgency of this issue at the socio-anthropological level, we are conducting ethnographic research aimed at analysing how specialists and lay people objectivate, evaluate and circulate different conceptions of the human embryo in vitro. Based on our research experience within this ongoing project, we intend to discuss some ethical, practical and methodological concerns for the researcher in accessing the field and conducting fieldwork. We take into account the fact that this research is focused on sensitive topics and on individuals who can be considered people in vulnerable situations. Full article

Oblique facial clefts are rare congenital anomalies that can present alone or in association with other craniofacial anomalies. A high degree of clefting in the embryo may lead to hyperdontia secondary to dichotomy of the dental lamina. Multiple facial clefts with hyperdontia are clinically challenging and demand comprehensive rehabilitation. This article reports a case of multiple oblique facial clefts of variable severity with multiple supernumerary teeth in a 12-year-old boy. The varied clinical presentation along with the rarity of the occurrence mandate documentation. Full article