Fluctuating asymmetry (FA) is the small random deviation from perfect symmetry in bilateral traits and is often used to assess developmental instability (DI) experienced by organisms. In this study, with a unique dataset of 1389 deceased human fetuse...
Constitutional deletions of chromosome 1q42 region are rare. The phenotype spectrum associated with this copy number change is variable, including developmental delay, intellectual disability, seizures, and dysmorphology. This study describes a patie...
Until 2021, the ZNF699 gene was not associated with any human genetic disease. There were only two studies exploring the associations between variants in ZNF699 and alcohol dependence. In 2021 Bertoli-Avella et al. reported 13 patients with a ZNF699...
Salt is frequently introduced in ecosystems, where it acts as a pollutant. This study examined how changes in salinity affect the survival and development of zebrafish from the two-cell to the blastocyst stage and from the blastocyst to the larval st...
Background: Foetal structural abnormalities can be detected in approximately 3% of all pregnancies and frequently remain without a genetic diagnosis. This study aims to apply an integrated approach with the final goal of providing a molecular diagnos...
(1) Background: Developmental instability (DI), often measured by fluctuating asymmetry (FA), increases with stress in humans, yet little is known about how stress affects the changes of asymmetry with age. More specifically, it is unknown if fetuses...
Agricultural areas can provide sources of food and hiding and nesting places for wild birds. Thus, the chemical load of potentially toxic elements (Cd, Cu, Pb) due to industrial and agricultural activities can affect not only the adult birds but also...
Recent studies suggest that organophosphates and carbamates affect human fetal development, resulting in neurological and growth impairment. However, these studies are conflicting and the extent of adverse effects due to pesticide exposure warrants f...
Porcine somatic cell nuclear transfer (SCNT) demonstrates significant potential for application in biomedical research, agricultural breeding, and xenotransplantation. However, compared to in vivo fertilized embryos, SCNT embryos exhibit suboptimal d...
Most catastrophic injuries in Thoroughbred racehorses involve the fetlock. There is no description of comparative imaging in Thoroughbreds entering racehorse training. The aim was to describe MRI, CT and radiographic findings in the metacarpophalange...
Background: The umbilical cord normally contains two arteries and one vein. The presence of supernumerary—four or five—umbilical cord vessels is a rare phenomenon, with few cases reported in the literature. The majority of cases are detec...
Fungal infection is a major cause of hatching failure in amphibian embryos. However, studies in Hynobiidae remain limited. Across four breeding seasons (10 November 2022–15 April 2026), we combined field monitoring of hatching rates and mould-a...
Autism Spectrum Disorder (ASD) is frequently accompanied by gastrointestinal disturbances, dietary selectivity, and altered stress responses, with growing evidence pointing to gut–brain axis involvement. While intestinal microbiota has been ext...
While early embryonic loss affects the conception rate in lactating cows, the underlying mechanisms remain unknown. Here, we examined whether the developmental morphokinetics and transcriptomic profiles of cleaved embryos are associated with developm...
Ribosomes are the vital molecular machine for protein translation in a cell. Defects in several nucleolar proteins have been observed in human ribosomopathies. In zebrafish, a deficiency in these ribosomal proteins often results in an anemic phenotyp...
28 October 2019
The aim of this study was to investigate whether combined exposure to fructose and bisphenol A (BPA) has a synergistic effect on abnormal lipid metabolism in the liver of developmental male rats and its possible mechanism. Fifty weaned male Wistar ra...
Nanoplastics, created by the fragmentation of larger plastic debris, are a serious pollutant posing substantial environmental and health risks. Here, we developed a polystyrene nanoparticle (PS-NP) exposure model during mice pregnancy to explore thei...
Small molecular weight GTPase Rab2 has been shown to be a resident of pre-Golgi intermediates and required for protein transport from the ER to the Golgi complex, however, the function of Rab2 in Dictyostelium has yet to be fully characterized. Usin...
N-Glycanase 1 (NGLY1) is a cytosolic enzyme involved in removing N-linked glycans of misfolded N-glycoproteins and is considered to be a component of endoplasmic reticulum-associated degradation (ERAD). The 2012 identification of recessive NGLY1 muta...
The aim of this study is to investigate whether it is possible to detect future behavioral and emotional problems in extremely low-birth-weight infants by evaluating the neonatal head magnetic resonance imaging (MRI) using a scoring system. This stud...
New isopropylated fused azaisocytosine-containing congeners (I–VI) have previously been reported as promising anticancer drug candidates, so further research on these molecules in the preclinical development phase is fully justified and necessa...
D5, a member of the cyclic siloxane family, is widely used in personal care products such as shampoo, cosmetics, and deodorant and as an industrial intermediate. D5 can mainly be absorbed orally or through inhalation. Through these routes, people are...
Skeletal Class III malocclusion with maxillary deficiency is a severe maxillofacial disease with unclear pathogenic mechanisms. We recruited a Han Chinese family who was clinically diagnosed with skeletal Class III malocclusion and maxillary deficien...
Objectives: The aim of this study was to identify the prevalence of and independent risk factors for long-term effects of childhood cancer treatment on the dentition and oral health in childhood cancer survivors (CCSs). Methods: This cross-sectional...
Omphalocele is a congenital abdominal wall defect whose underlying muscular and fascial structural characteristics remain incompletely understood. This study aimed to investigate the anatomical and ultrastructural features of the abdominal wall in pa...
This retrospective study compared clinical, radiological, and patient- and clinician-reported outcomes between immediate and delayed implants placed in patients with tooth agenesis as part of one-stage implant therapy with a split-mouth design. A tot...
16p11.2 copy number variations (CNVs) are increasingly recognized as one of the most frequent genomic disorders, and the 16p11.2 microdeletion exhibits broad phenotypic variability and a diverse clinical phenotype. We describe the neurodevelopmental...
Microplastics represent an emerging threat to aquatic environments and organisms, as they infiltrate water systems, are ingested by marine species, and cause physical harm, endocrine disruption, and bioaccumulation up the food chain, potentially impa...
This study reports a previously unreported heterozygous MYCN missense variant, c.454G>A (p.Ala152Thr), identified in a child and two affected relatives, with clinical findings consistent with Feingold syndrome type 1, an autosomal dominant develop...
17 June 2020
Background: Primary ciliary dyskinesia (PCD) is a rare, ciliopathic disorder. In many ciliopathies, dental anomalies are observed alongside other symptoms of the disease. To date, there are no published reports concerning the dental developmental pro...
Congenital developmental defects are among the postnatal consequences of early exposure to hydrogen peroxide or other teratogens that induce oxidative stress, highlighting a potential mechanistic link between oxidative stress, redox signaling, and de...
Caffeine exposure during pregnancy has been associated with developmental abnormalities; however, the combined effects of caffeine and glucose on embryogenesis remain unclear. In this study, zebrafish embryos were exposed to caffeine or caffeine plus...
Background: Infantile spasms are an age-specific epileptic disorder. They occur in infancy and early childhood. They can be caused by multiple etiologies. Structural abnormalities represent an important cause of infantile spasms. Brain magnetic reson...
Mutations in the GJB2 gene account for approximately 20–50% of all non-syndromic hereditary deafness cases. The malformed organ of Corti (OC) was observed in different Cx26-null mouse models, which was mainly caused by the developmental arrest...
Embryogenesis is a well-coordinated process relying on precise cues and environmental signals that direct spatiotemporal embryonic patterning. Quite often, when one error in this process occurs, others tend to co-occur. We posit that investigating th...
Specific word reading difficulty, commonly termed ‘developmental dyslexia’, refers to the low end of the word reading skill distribution but is frequently considered to be a neurodevelopmental disorder. This term implies that brain develo...
Lung organogenesis is a highly coordinated process governed by a network of conserved signaling pathways that ultimately control patterning, growth, and differentiation. This rigorously regulated developmental process culminates with the formation of...
Neurodevelopmental disorders (NDDs) are characterized by neuroanatomical abnormalities indicative of corticogenesis disturbances. At the basis of NDDs cortical abnormalities, the principal developmental processes involved are cellular proliferation,...
In regular IVF, a portion of oocytes exhibit abnormal numbers of pronuclei (PN) that is considered as abnormal fertilization, and they are routinely discarded. However, it is known that abnormal ploidy still does not completely abandon embryo develop...
The development of epidermis plays a central role in driving the morphogenesis of the Caenorhabditis elegans embryo. However, current research on epidermal morphogenesis focuses disproportionately on overt phenotypic abnormalities, potentially overlo...
Diagnosis of autism spectrum disorder (ASD) before the age of three years is a challenge. Analyzing the present practice may help reaching that goal. Aim: To investigate developmental abnormalities and diagnostic pathway of ASD patients in pediatric...
Pharmaceuticals are actually identified as a threat to the ecosystem. Nowadays, the growing consumption of antineoplastic agents has been related to their continuous input in natural environments. These substances can interfere with physiological and...
Background: Brain MRI in patients with autism spectrum disorder (ASD) is generally considered when additional neurologic, developmental, or syndromic concerns warrant structural evaluation. In the study practice, ASD alone was not used as the reason...
Micro(nano)plastics (MNPs) pose a significant threat to both ecological environments and human health. This review systematically examines the developmental toxicity of MNPs in mammals, with a particular focus on the impact of maternal and paternal e...
Abnormalities of the urachus detected in infancy and early childhood are often interpreted as persistent congenital abnormalities requiring surgical correction. However, growing clinical experience suggests that a proportion of these findings may ref...
Down syndrome (DS) is the most common survivable chromosome trisomy, with an incidence of about 1 in 600–700 births. Consequences of chromosome 21 trisomy include developmental delays, congenital cardiac abnormalities, skeletal abnormalities, a...
1 November 1988
Introduction: A thorough understanding of the development and growth which involve oral and paraoral structures is necessary for the orofacial myologist. Many of the developmental anomalies are congenital as opposed to being inherited. Tongue abnorma...
Neonicotinoids, including imidacloprid, are pesticides that resemble nicotine and undergo slight chemical alterations through metabolic changes in the environment. However, the effects of these metabolites on organisms remain unknown. In this study,...
Solitary Median Maxillary Central Incisor Syndrome is unique congenital developmental defect affecting midline structures of the head and the body. The prevalent symptom is a solitary median incisor of the maxilla in primary and secondary dentition,...
The technique of cloning has wide applications in animal husbandry and human biomedicine. However, the very low developmental efficiency of cloned embryos limits the application of cloning. Ectopic XIST-expression-induced abnormal X chromosome inacti...
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