Inherited eye disorders (IED) are a heterogeneous group of Mendelian conditions that are associated with visual impairment. Although these disorders often exhibit incomplete penetrance and variable expressivity, the scale and mechanisms of these phen...
Sudden cardiac death is defined as an unexpected decease of cardiac origin. In individuals under 35 years old, most of these deaths are due to familial arrhythmogenic syndromes of genetic origin, also known as channelopathies. These familial cardiac...
In friction stir welding (FSW), many defects (such as kissing bond, incomplete penetration, and weak connection) easily occur at the root of the welded joint. Based on the Levy–Mises yield criterion of the Zener–Hollomon thermoplastic con...
Cardiomyopathies represent a heterogeneous group of myocardial disorders, traditionally classified by phenotype into hypertrophic, dilated, and arrhythmogenic. Historically, these conditions have been attributed to high-penetrance rare variants in ke...
Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder with variable penetrance and high genetic and phenotypic heterogeneity. It is caused by pathogenic variants in the TCOF1, POLR1D, POLR1C, and POLR1B genes, and its major chara...
Hypertrophic cardiomyopathy (HCM), the most common inherited cardiomyopathy, represents a paradigmatic condition for precision cardiovascular medicine. Once regarded as a monogenic autosomal dominant disorder driven by rare sarcomeric variants, HCM i...
Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant disorder with febrile or afebrile seizures that exhibits phenotypic variability. Only a few variants in SCN1A have been previously characterized for GEFS+, in Latin American...
A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review article provides background information on SD, as well as insights into phenotypic and...
Inherited cardiomyopathies represent a highly heterogeneous group of cardiac diseases. DNA variants in genes expressed in cardiomyocytes cause a diverse spectrum of cardiomyopathies, ultimately leading to heart failure, arrythmias, and sudden cardiac...
Background: Noonan syndrome (NS)/Noonan syndrome with multiple lentigines (NSML) is commonly characterized by distinct facial features, a short stature, cardiac problems, and a developmental delay of variable degrees. However, as many as 50% of indiv...
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated...
Penetrating captive bolt (PCB) is widely used for stunning and on-farm dispatch of livestock, yet its efficacy can vary, with the potential for animal welfare compromise. This study investigated the pathophysiology of PCB-induced trauma in horned and...
RPE65 isomerase, expressed in the retinal pigmented epithelium (RPE), is an enzymatic component of the retinoid cycle, converting all-trans retinyl ester into 11-cis retinol, and it is essential for vision, because it replenishes the photon capturing...
Spondyloepimetaphyseal dysplasia type Isidor-Toutain (RPL13-SEMD) is an autosomal dominant skeletal dysplasia caused by heterozygous pathogenic variants in the RPL13 gene, encoding the ribosomal protein eL13. To date, 13 pathogenic variants in RPL13...
No published study has investigated the mitochondrial count in patients suffering from acute intermittent porphyria (AIP). In order to determine whether mitochondrial content can influence the pathogenesis of porphyria, we measured the mitochondrial...
Familial tooth agenesis (FTA), distinguished by developmental failure of selected teeth, is one of the most prevalent craniofacial anomalies in humans. Mutations in genes involved in WNT/β-catenin signaling, including AXIN2 WNT10A, WNT10B, LRP6,...
This article investigates the clinical and radiological characteristics of captive bolt gun head injuries, a rare form of low-velocity penetrating brain injury. Eleven consecutive patients were included in the study. Vascular injuries and the rate of...
In the oil and gas pipeline industry, numerous small-diameter branch pipe fillet welds exist, which are prone to stress concentration because of diverse geometric shapes. The internal welding defects within these welds pose severe hazards to safe pro...
Monogenic forms of diabetes may account for 1–5% of all cases of diabetes, and may occur in the context of syndromic presentations. We investigated the case of a girl affected by insulin-dependent diabetes, diagnosed at 6 years old, associated with c...
Vortex- friction stir welding (VFSW) utilizes a stir bar made of an identical material to the workpiece to rub the workpiece’s top surface, which avoids the keyhole defect in conventional friction stir welding. It presents great potential in th...
We aimed to identify the genetic cause of autosomal dominant retinitis pigmentosa (adRP) and characterize the underlying molecular mechanisms of incomplete penetrance in a Chinese family affected with adRP. All enrolled family members underwent ophth...
This reply aims to correct some incomplete/incorrect information provided in the article "A Lightweight and Low-Power UAV-Borne Ground Penetrating Radar Design for Landmine Detection", when the authors compare their results with some state-of-the-art...
Full-penetration laser welding (FPLW) is increasingly adopted in manufacturing pipelines, yet its industrial scalability is constrained by in-process defect formation, particularly incomplete penetration. To address this, we propose a sensor-driven f...
In this experiment, the T-joint of a 6082 aluminum alloy was welded by metal inert gas (MIG) welding and a fatigue test was carried out at room temperature. The mechanisms of generating pores and of fatigue fracture in welded joints are revealed in t...
During the cold metal transfer plus pulse (CMT+P) welding process of medium-thick plates, problems such as incomplete penetration (IP) and burn-through (BT) are prone to occur, and weld pool morphology is important information reflecting the penetrat...
The widespread integration of inverter-based distributed generators (IIDGs) severely limits the adaptability of conventional three-step overcurrent protection in distribution networks (DNs). To address weak rural infrastructure and incomplete post-fa...
Inherited retinal diseases (IRDs) are a diverse and variable group of rare human disorders [...]
Background: Cervical spinal cord injuries (SCIs) are the most common type of human SCI. Although various animal SCI contusion models have been developed to mirror human pathology, few have described cervical-level injuries. This study aims to validat...
The corticotropin-releasing hormone receptor 2 (CRHR2) gene encodes CRHR2, contributing to the hypothalamic–pituitary–adrenal stress response and to hyperglycemia and insulin resistance. CRHR2−/− mice are hypersensitive to str...
Background: Primary macronodular adrenocortical hyperplasia (PMAH) is a rare form of adrenal Cushing’s syndrome with incomplete penetrance which may be sporadic or autosomal dominant. The inactivation of the ARMC5 gene, a potential tumor suppre...
Narrow gap welding is a prevalent technique used to decrease the volume of molten metal and heat required to fill a joint. Consequently, deleterious effects such as distortion and residual stresses may be reduced. One of the fields where narrow groov...
Women carrying pathogenic/likely pathogenic (P/LP) variants in moderate- or high-penetrance genes have an increased risk of developing breast cancer. However, most P/LP variants associated with breast cancer risk show incomplete penetrance. Age, gend...
Our understanding of arrhythmogenic right ventricular cardiomyopathy (ARVC) has advanced considerably over the past 30- 40 years. This is an inherited cardiomyopathy with complicated genetic inheritance and variable penetrance. Desmosomal dysfunction...
Background: The pathogenicity of the different genetic variants causing hypertrophic cardiomyopathy (HCM) and the genotype/phenotype correlations are difficult to assess in clinical practice, as most mutations are unique or identified in non-informat...
The purpose of this study was to detect the missing heritability of patients with KIF11-related retinopathy and to describe their clinical and genetic characteristics. We enrolled 10 individuals from 7 unrelated families harboring a pathogenic monoal...
Background: Neurodevelopmental disorders (NDDs) are genetically heterogeneous, and exome sequencing (ES) is now a first-line diagnostic tool. However, many patients receive variants of uncertain significance (VUSs) or inherited variants with incomple...
A comprehensive geophysical survey, combining magnetic gradiometry and ground-penetrating radar (GPR), was undertaken at the Roman fort of Aquis Querquennis to map buried archaeological structures, including potential walls and internal divisions, wi...
Plastic waste is growing rapidly, while asphalt binders remain heavily reliant on petroleum bitumen. Incorporating recycled plastics into bitumen can divert waste and enhance pavement performance. This review compiles 251 experimental records from 56...
Thick-walled X80 pipelines for oil and gas transportation are difficult to relocate due to their large size. In the process of narrow-gap overhead welding, welding defects, such as bulges and lack of sidewall fusion, can appear easily. To avoid these...
The present study investigated the dissimilar metal combination of SUS303 stainless steel (SS) and pure copper C19210 by utilizing a fiber pulse laser to perform lap welding. The weld quality was evaluated through metallurgical and mechanical examina...
Background/Objectives: Natural products exhibit significant immunomodulatory potential but face severe efficacy loss in three-dimensional (3D) tumor models. This review comprehensively examines the penetration–activity trade-off and proposes in...
Penetration testing is an effective method of making computers secure. When conducting penetration testing, it is necessary to fully understand the various elements in the cyberspace. Prediction of future cyberspace state through perception and under...
Current standards related to welded joint defects (EN ISO 5817) only consider individual cases (i.e., single defect in a welded joint). The question remains about the behaviour of a welded joint in the simultaneous presence of several different types...
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterised by ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous genetic determinants and phenotypic manifestations have been discovered in ACM, p...
Syncope, defined as a transient loss of consciousness caused by transient global cerebral hypoperfusion, affects 30–40% of humans during their lifetime. Vasovagal syncope (VVS) is the most common cause of syncope, the etiology of which is still uncle...
Dental caries is a prevalent global health issue characterized by the progressive demineralization of dental tissues, which occurs when the balance between demineralization and remineralization processes is disrupted at the tooth level. Silver diamin...
The melanocortin receptors are G-protein-coupled receptors, which are essential components of the hypothalamic–pituitary–adrenal axis, and they mediate the actions of melanocortins (melanocyte-stimulating hormones: α-MSH, β-MSH...
Leber’s hereditary optic neuropathy (LHON) is a maternally transmitted disease caused by mitochondria DNA (mtDNA) mutation. It is characterized by acute and subacute visual loss predominantly affecting young men. The mtDNA mutation is transmitt...
Sodium voltage-gated channel α subunit 5 (SCN5A)-mutations may cause an array of arrhythmogenic syndromes most frequently as an autosomal dominant trait, with incomplete penetrance, variable expressivity and male predominance. In the present st...
There has been considerable progress in the implementation of newborn screening (NBS) programs for cystic fibrosis (CF), with DNA analysis being part of an increasing number of strategies. Thanks to advances in genomic sequencing technologies, CFTR-e...
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