Genetic Analysis Research Articles

Low-density SNP marker sets for genetic variation analysis and variety identification in cultivated citrus

Low-density SNP marker sets for genetic variation analysis and variety identification in cultivated citrus

Anaplastic large cell T-cell lymphoma: insights from cytological and immunological profiles across ten diverse cases.

While the latest WHO classification of hematological neoplasms helps refine the diagnostic criteria for anaplastic large cell lymphomas (ALCL), their diagnosis can still be challenging. This retrospective series of 10 ALCL cases illustrates the cytological appearance and immunological profile obtained through flow cytometry (FCM) from various sample types, including lymph node biopsies (LN), peripheral blood (PB), cerebrospinal fluid (CSF), and pleural fluid (PF). ALCL exhibits a polymorphic cytological appearance, ranging from "doughnut" cells to Hodgkin-like cells, very large cells, and small cells, with this polymorphism being particularly pronounced in ALK (-) forms. The detection of cytotoxic CD4+ T-cells by FCM aids in confirming the diagnosis, especially in small cell forms, which typically correspond to circulating phases. Cytological orientation, particularly for LNB, helps optimize the FCM panel to be used and ensures that ALCL, which frequently shows a loss of pan-T markers, is not overlooked. In conclusion, while the final diagnosis is histological, cytological analysis combined with FCM provides an initial diagnostic orientation for ALCL and guides complementary genetic analyses.

Low LDL cholesterol and risk of bacterial and viral infections – observational and Mendelian randomisation studies

Abstract Aims Low levels of low-density-lipoprotein(LDL) cholesterol may be associated with risk of infectious disease. We tested the hypothesis that low LDL cholesterol due to genetic variation in the LDLR, PCSK9, and HMGCR genes, and a polygenic LDL cholesterol score is associated with risk of infectious diseases in the general population. Methods and results Using observational and Mendelian randomisation designs, we examined associations of low plasma LDL cholesterol with risk of bacterial and viral infections in 119,805 individuals from the Copenhagen General Population Study/Copenhagen City Heart Study, 468,701 from the UK Biobank, and up to 376,773 from the FinnGen Research Project. Observationally, low LDL cholesterol concentrations were associated with risk of hospitalisation for both bacterial and viral infections. In genetic analyses, a 1 mmol/L lower LDL cholesterol was associated with lower plasma PCSK9(-0.55 nmol/L[95%CI: -1.06–-0.05], p=0.03), leucocyte count(-0.42 x109/L[-0.61–-0,24]; p<0.001), and high-sensitivity C-reactive protein(-0.44 mg/L[-0.79–-0.09]; p=0.014). Using an LDLR, HMGCR, and PCSK9 score, a 1 mmol/L lower LDL cholesterol was associated with risk ratios of 0.91(95%CI: 0.86–0.97; p=0.002) for unspecified bacterial infection, of 0.92(0.87–0.97; p=0.004) for diarrhoeal disease, and of 1.15(1.03-1.29; p=0.012) for unspecified viral infections and 1.64(1.13-2.39; p=0.009) for HIV/AIDS. Using a polygenic LDL cholesterol score largely showed similar results and in addition a lower risk of 0.85(0.76-0.96; p=0.006) for bacterial pneumonia and 0.91(0.82-0.99; p=0.035) for sepsis. Conclusion Genetically low LDL cholesterol concentrations were associated with lower concentration of markers of inflammation, and lower risk of hospitalisation for unspecified bacterial infections, infectious diarrhoeal diseases, bacterial pneumonia, and sepsis; and higher risk of viral infections and HIV/AIDS.

Development of SCAR marker for authentication in germplasm conservation and SSR & inter-transcribed spacer genetic diversity analysis in medicinally important herb Uraria picta.

Development of SCAR marker for authentication in germplasm conservation and SSR & inter-transcribed spacer genetic diversity analysis in medicinally important herb Uraria picta.

Fluctuating Genetic Influences at Three Different Stages of Development of Dental Arches: A Complex System

Background/Objectives: The development of dental arches is a complex adaptive system with interactions between genetic and environmental factors. At different developmental stages, the relative contribution of these factors varies. The aims of this project were to identify the longitudinal changes of dental arches in the primary, mixed and permanent dentition stages, using curve fitting methods on serial dental casts, and to investigate the contribution of the genotype to dental arch development. Methods: Longitudinal dental records from 125 monozygotic same-sex twin pairs, 89 dizygotic same-sex twin pairs, and 49 opposite-sex dizygotic twin pairs were used. Standardized model photographs were collected, and key landmarks were digitized. Fourth-order orthogonal polynomials were applied to the Cartesian data. Descriptive statistics were calculated, and structural equation models were developed to analyze the individual polynomial coefficients. The final models employed a genetic simplex framework, enabling the evaluation of how genetic and environmental influences changed over time. These changes were examined both quantitatively (e.g., variations in heritability) and qualitatively (e.g., the influence of different genes at various stages). Results: In the primary dentition, arches were typically parabolic, while in the permanent dentition, they tended to be more square-shaped. Asymmetry made a minor contribution to variation across all stages of development. Genetic analysis revealed that a core group of genes influenced arch shape over time, though their impact varied. Additionally, some genes were specific to certain developmental stages, with their relative contributions differing significantly. Notably, there was evidence of sexual heterogeneity in arch shape, particularly in the permanent dentition. Heritability was consistently high, both at individual developmental stages and throughout the overall developmental process. Conclusions: The degree of genetic influence at each developmental stage was substantial but it fluctuated between the primary, mixed, and permanent dentition stages.

COP9 SIGNALOSOME SUBUNIT 5A facilitates POLYAMINE OXIDASE 5 degradation to regulate strawberry plant growth and fruit ripening.

Polyamines (PAs), such as putrescine, spermidine, and spermine, are essential for plant growth and development. However, the post-translational regulation of PA metabolism remains unknown. Here, we report the COP9 SIGNALOSOME SUBUNIT 5A (FvCSN5A) mediates the degradation of the POLYAMINE OXIDASE 5 (FvPAO5), which catalyzes the conversion of spermidine/spermine to produce H2O2 in strawberry (Fragaria vesca). FvCSN5A is localized in the cytoplasm and nucleus, is ubiquitously expressed in strawberry plants, and is rapidly induced during fruit ripening. FvCSN5A RNA interference (RNAi) transgenic strawberry lines exhibit pleiotropic effects on plant development, fertility, and fruit ripening due to altered PA and H2O2 homeostasis, similar to FvPAO5 transgenic overexpression lines. Moreover, FvCSN5A interacts with FvPAO5 in vitro and in vivo, and the ubiquitination and degradation of FvPAO5 are impaired in FvCSN5A RNAi lines. Additionally, FvCSN5A interacts with cullin 1 (FvCUL1), a core component of the E3 ubiquitin-protein ligase complex. Transient genetic analysis in cultivated strawberry (Fragaria × ananassa) fruits showed that inhibiting FaPAO5 expression could partially rescue the ripening phenotype of FaCSN5A RNAi fruits. Taken together, our results suggest that the CSN5A-CUL1-PAO5 signaling pathway responsible for PA and H2O2 homeostasis is crucial for strawberry vegetative and reproductive growth in particular fruit ripening. Our findings present a promising strategy for improving crop yield and quality.

Single-cell sequencing provides clues about the developmental genetic basis of evolutionary adaptations in syngnathid fishes

Seahorses, pipefishes, and seadragons are fishes from the family Syngnathidae that have evolved extraordinary traits including male pregnancy, elongated snouts, loss of teeth, and dermal bony armor. The developmental genetic and cellular changes that led to the evolution of these traits are largely unknown. Recent syngnathid genome assemblies revealed suggestive gene content differences and provided the opportunity for detailed genetic analyses. We created a single-cell RNA sequencing atlas of Gulf pipefish embryos to understand the developmental basis of four traits: derived head shape, toothlessness, dermal armor, and male pregnancy. We completed marker gene analyses, built genetic networks, and examined the spatial expression of select genes. We identified osteochondrogenic mesenchymal cells in the elongating face that express regulatory genes bmp4, sfrp1a, and prdm16. We found no evidence for tooth primordia cells, and we observed re-deployment of osteoblast genetic networks in developing dermal armor. Finally, we found that epidermal cells expressed nutrient processing and environmental sensing genes, potentially relevant for the brooding environment. The examined pipefish evolutionary innovations are composed of recognizable cell types, suggesting that derived features originate from changes within existing gene networks. Future work addressing syngnathid gene networks across multiple stages and species is essential for understanding how the novelties of these fish evolved.

Revealing the Rare: Prenatal Diagnosis of Inferior Vena Cava Aneurysm.

This case report highlights the prenatal diagnosis of a rare saccular inferior vena cava (IVC) aneurysm. A 25-year-old gravida 4 para 1 patient underwent detailed ultrasonography at 20weeks of gestation, revealing a 15 × 10 × 14mm infrarenal IVC aneurysm. Genetic analysis identified a de novo 2p16.3 deletion of uncertain significance. Serial imaging showed progressive aneurysm dilation and mild cardiomegaly. Postnatal CT angiography confirmed the aneurysm, and anticoagulant therapy was initiated. This report underscores the importance of detailed prenatal imaging and genetic evaluation in the identification and management of rare vascular anomalies, contributing to the understanding of their clinical implications.

Single-cell sequencing provides clues about the developmental genetic basis of evolutionary adaptations in syngnathid fishes.

Seahorses, pipefishes, and seadragons are fishes from the family Syngnathidae that have evolved extraordinary traits including male pregnancy, elongated snouts, loss of teeth, and dermal bony armor. The developmental genetic and cellular changes that led to the evolution of these traits are largely unknown. Recent syngnathid genome assemblies revealed suggestive gene content differences and provided the opportunity for detailed genetic analyses. We created a single-cell RNA sequencing atlas of Gulf pipefish embryos to understand the developmental basis of four traits: derived head shape, toothlessness, dermal armor, and male pregnancy. We completed marker gene analyses, built genetic networks, and examined the spatial expression of select genes. We identified osteochondrogenic mesenchymal cells in the elongating face that express regulatory genes bmp4, sfrp1a, and prdm16. We found no evidence for tooth primordia cells, and we observed re-deployment of osteoblast genetic networks in developing dermal armor. Finally, we found that epidermal cells expressed nutrient processing and environmental sensing genes, potentially relevant for the brooding environment. The examined pipefish evolutionary innovations are composed of recognizable cell types, suggesting that derived features originate from changes within existing gene networks. Future work addressing syngnathid gene networks across multiple stages and species is essential for understanding how the novelties of these fish evolved.

Identification of Somatic Genetic Variants in Superficial Vascular Malformations by Liquid Biopsy in a Cohort of 88 Patients from a French Hospital.

Superficial vascular anomalies are complex disorders characterized by abnormal vascular growth. Next-generation sequencing has recently identified somatic genetic alterations associated with these malformations, offering new insights for targeted treatments. However, tissue biopsies for genetic testing can be invasive and difficult to obtain, especially in arteriovenous malformations (AVM) with hemorrhagic risks. A liquid biopsy, a non-invasive approach, offers a promising solution by detecting genetic mutations in cell-free DNA. This pilot study aimed to evaluate the feasibility of using a liquid biopsy for the genetic analysis of patients with superficial vascular anomalies through cell-free DNA sampling. Additionally, it explored whether specific sampling sites, such as the afferent artery, nidus, and efferent vein, could enhance the sensitivity of detecting pathogenic variants in patients with AVM. A total of 88 patients were enrolled, including 55 with AVM and 33 with lymphatic malformations. For patients with AVM, cell-free DNA samples were collected from peripheral blood, efferent veins, afferent arteries, and the AVM nidus. In patients with lymphatic malformations, cystic lymphatic fluid was collected by a direct puncture during diagnostic procedures. A molecular analysis was performed using a targeted gene panel relevant to somatic alterations in solid tumors. Pathogenic variants were validated by digital polymerase chain reaction for patients with lymphatic malformations. Pathogenic variants were identified in 23.6% of patients with AVM, predominantly in MAP2K1 and KRAS genes, with higher sensitivity near the AVM nidus. In addition, pathogenic variants were identified in 27.3% of patients with lymphatic malformations, all involving the PIK3CA gene. Despite the lower sensitivity of a cell-free DNA analysis compared with a tissue biopsy, especially in patients with AVM, the detection rate suggests the utility for a cell-free DNA analysis, particularly when a tissue biopsy is not feasible. This study confirms the feasibility of using a cell-free DNA liquid biopsy for genotyping patients with superficial vascular anomalies, although a tissue biopsy remains the gold standard for comprehensive genetic profiling because of its higher sensitivity. A liquid biopsy offers a non-invasive option for molecular analysis that is useful as a preliminary or alternative approach when direct tissue sampling is not possible. Importantly, the sensitivity of cell-free DNA sampling in AVM appeared highest when obtained close to the nidus, indicating an optimal sampling location for future studies. Further research is needed to improve detection sensitivity, especially for samples taken near the nidus, to validate and strengthen these findings.Although our study focused on superficial/extra-cranial AVM, further research should assess the applicability of this approach to cerebral AVM, where a tissue biopsy is particularly risky.

Sudden cardiac death, arrhythmogenic cardiomyopathy and intercalated disc pathology due to reduced filamin C protein levels: a matter of life and death.

Mutations in the human FLNC gene encoding filamin C (FLNc) cause a broad spectrum of sporadic and familial cardiomyopathies and myopathies. We report on the genetic, clinical, morphological and biochemical findings in a German family harboring an FLNC variant that leads to severe cardiac disease comprising sudden cardiac death and arrhythmogenic cardiomyopathy. Genetic analysis identified a novel heterozygous FLNC variant in exon 16 (NM_001458.4:c.2495_2498delAGTA, het; p.K832TfsX45) in i) the index patient suffering from dilated cardiomyopathy necessitating heart transplantation, ii) a son, who died from sudden cardiac death, iii) a second son, who survived an episode of sudden cardiac arrest and iv) a third son affected by isolated skeletal muscle myopathy. FLNc protein levels were markedly reduced in cardiac tissue obtained from the index patient, implying that the p.K832TfsX45 FLNc variant most probably caused nonsense-mediated decay of the corresponding mRNA. Morphological analysis of the diseased cardiac tissue revealed extensive fibrotic remodeling, and marked degenerative changes of the contractile apparatus of cardiomyocytes and severe structural alterations of intercalated discs. Connexin-43 signal intensity at intercalated discs was diminished and FLNc labelling of myofibrils was attenuated or even absent. Proteome analyses demonstrated complex alterations of extracellular matrix and intercalated disc proteins. Our findings demonstrate that this novel, truncating FLNC mutation likely leads to haploinsufficiency, thereby causing a deleterious sequence of degenerative changes of cardiac tissue with extensive fibrotic remodeling and intercalated disc pathology as the structural basis for FLNC-related cardiomyopathy with life-threatening cardiac arrhythmias.

Genome Scan Analysis for Advancing Knowledge and Conservation Strategies of Primitivo Clones (Vitis vinifera L.)

The success of the Primitivo variety underscores the critical need for the managing of clone genetic conservation, utilization, and improvement. By combining genomic and environmental data, breeders can better predict the performance of varieties, thereby improving breeding efficiency and enabling more targeted development of high-quality grapevine cultivars. In this study, 35 Primitivo clones were analysed, including selected and certified clones that have been propagated over several years in Apulia. Genetic variability among the Primitivo clones was assessed through genotyping by sequencing. Using 38,387 filtered SNPs, pairwise identity-by-state (IBS) analysis demonstrated the uniqueness of the 35 clones (IBS < 0.75), indicating a high degree of variability among the samples. Genetic diversity analysis revealed three primary groups, which were differentiated based on geographic origin. The clones from Gioia del Colle were grouped into two distinct clusters, which aligns with the observed variation in grape-related traits. The fixation index (FST > 0.50) identified numerous loci putatively associated with stress responses and developmental traits, including genes involved in key plant biological processes, stress response regulation, and adaptation to environmental conditions such as glutamate receptors, auxin, and ethylene signalling.

Genetic diversity analysis for yield and yield contributing traits in mungbean (Vigna radiate L.)

An experiment was carried out at Sher-e-Bangla Agricultural University in Kharif-1 season with 33 genotypes of mungbean (Vigna radiate L.) to identify genetically diverse genotypes for yield contributing characters. The genotypes were evaluated for eight yield and yield contributing characters using a randomized complete block design with three replications. High heritability coupled with a high genetic gain was observed in days to 50% flowering, plant height, pod length, 100 seed weight, and seed yield per plant which indicated the effect of additive genes. Selection of these traits might cause the probability of simultaneous improvement of mungbean. The genotypes were grouped into four clusters based on the D2-value where cluster I was the largest and comprised of 13 genotypes followed by clusters III and IV with 6 genotypes in each. The highest inter-cluster distance was recorded between clusters II and IV (10.425) and the intra-cluster distance in cluster II (2.45). The lowest inter-cluster distance was found between clusters I and III (3.19). Principle component analysis revealed first four components contributed 88.77% towards genetic diversity in mungbean. Considering the magnitude of cluster means and agronomic performance the genotypes of cluster II and the genotypes of cluster IV might be suggested as parents for future hybridization programs. Bangladesh J. Agri. 2024, 49(2): 136-143

Etiology, presentation, and outcomes of hyperprolactinemia due to pituitary masses in children and adolescents.

Hyperprolactinemia in children and adolescents can result from various etiologies, including pituitary masses. Understanding the underlying causes, clinical presentation, and outcomes is essential for effective management. A retrospective cohort study was conducted, analyzing clinical data from patients diagnosed with hyperprolactinemia secondary to pituitary masses. The study included patients aged under 18 years, who were diagnosed between January 2018 and September 2024. Patients were classified into two groups: those with prolactinoma and those with non-prolactinoma causes, including non-functioning pituitary adenomas (NFPAs) and craniopharyngiomas. Serum prolactin levels, imaging studies, and treatment responses were assessed. A total of 33 patients with hyperprolactinemia attributed to pituitary masses were identified. The diagnoses among the patients were as follows: 54.5% had prolactinomas, 24.2% had NFPAs, and 21.2% had craniopharyngiomas. The age at diagnosis ranged from 8.4-17.9 years. In the prolactinoma group, the mean age at diagnosis was 15.6 ± 2.1 years, while in the non-prolactinoma group, it was 13.5 ± 2.9 years, and a statistically significant difference was observed (p = 0.024). The median prolactin level was 258 ng/mL (range: 30.5-14,35 0 ng/mL). According to the diagnoses, the median prolactin level was 491.5 ng/mL (range: 249-14,350 ng/mL) for prolactinomas, 45.6 ng/mL (range: 30.5-68.5 ng/mL) for NFPAs, and 61 ng/mL (range: 44-72 ng/mL) for craniopharyngiomas. Menstrual irregularities, headaches, and galactorrhea were the most commonly reported complaints. Overweight/obesity was present in 39.3% of the entire cohort, while patients with prolactinomas demonstrated a significant reduction in BMI SDS following cabergoline treatment. Cabergoline treatment achieved a 100% success rate in patients with prolactinomas. We observed a higher prevalence of hyperprolactinemia due to NFPAs and craniopharyngiomas compared to previous reports. Notably, obesity was prevalent among patients and demonstrated a favorable response to cabergoline therapy. These findings emphasize the necessity for future studies, particularly larger prospective trials incorporating genetic analyses, to enhance our understanding of the characteristics and treatment outcomes of pediatric hyperprolactinemia.

Synergistic Antibacterial and Antibiofilm Effects of Clindamycin and Zinc Oxide Nanoparticles Against Pathogenic Oral Bacillus Species

Oral bacterial pathogens, including Bacillus species, form biofilms that enhance antibiotic resistance, promote bacterial adherence, and maintain structural integrity. The ability of bacteria to form biofilms is directly linked to several oral diseases, including gingivitis, dental caries, periodontitis, periapical periodontitis, and peri-implantitis. These biofilms act as a predisposing factor for such infections. Nanoparticles, known for their strong antibacterial properties, can target specific biofilm-forming microorganisms without disturbing the normal microflora of the oral cavity. This study focuses on the biofilm-forming ability and clindamycin (CM) resistance of Bacillus species found in the oral cavity. It aims to evaluate the antibacterial and antibiofilm properties of zinc oxide nanoparticles (ZnO-NPs) against oral Bacillus species and assess the effectiveness of combining CM with ZnO-NPs in reducing antibiotic resistance. The antibacterial susceptibility of Bacillus isolates was tested using ZnO-NPs and CM, demonstrating synergistic effects that reduced the minimum inhibitory concentrations by up to 8-fold. The fractional inhibitory concentration (FIC) index indicated a significant synergistic effect in most strains, with FIC values ranging from 0.375 to 0.5. It was found that the majority of Bacillus strains exhibited significant biofilm-forming capabilities, which were reduced when treated with the ZnO-NPs and CM combination. The study also evaluated the cytotoxicity of ZnO-NPs on cancer cells (CAL27) and normal fibroblasts (HFB4). CAL27 cells showed stronger cytotoxicity, with an IC50 of 52.15 µg/mL, compared to HFB4 cells, which had an IC50 of 36.3 µg/mL. Genetic analysis revealed the presence of biofilm-associated genes such as sipW and tasA, along with antibiotic resistance genes (ermC), which correlated with the observed biofilm phenotypes. Overall, this study demonstrates the potential of combining ZnO-NPs with CM to overcome antibiotic resistance and biofilm formation in the oral bacterial pathogens, Bacillus species. These findings suggest new approaches for developing more effective dental treatments targeting oral biofilm-associated infections and antibiotic resistance.

Apparent survival and population turnover in a long-lived generalist raptor: a comparison of estimation methods

Adult survival and turnover rates are often estimated in long-lived species as the primary drivers of population dynamics. Various methods have been used, yet comparison of estimation methods is seldom undertaken. To address this gap, we used colour-ringing across different age groups, as well as GPS-tracking and genetic analysis of shed feathers, to estimate these critical parameters in a population of the medium-sized bird of prey, the Lesser Spotted Eagle. According to the colour-ringing data, the apparent survival during the first year of life (0.21) was more than four times lower than that of birds older than one year (0.88); the GPS-tracking (0.84) and genetic analysis (0.81) yielded similar survival estimates. All used techniques indicated a stable trend in apparent survival rates. However, population turnover rates derived from genetic feather analysis (0.17–0.43) exceeded expectations based on apparent survival estimates, as well as those derived from colour-rings (0.05–0.17) and GPS-tracking (0.05–0.08). Notably, all markers indicated high site fidelity among adult eagles, with breeding dispersal events being infrequent. Our findings underscore the utility of diverse methods for estimating apparent survival, though the ecological characteristics of the species may influence the efficacy of each method. However, estimates of population turnover rates were notably influenced by the choice of method and should be interpreted cautiously before recommending management actions.

Continuous monitoring and comparative genetic analysis of attached outbreak species of Ulva prolifera in the Southern Yellow Sea.

With years of green tide outbreaks in the Southern Yellow Sea (SYS) and climate change, early findings over multiple years suggest that the green tide may originate from various pathways. Previous studies have identified attached outbreak species of U. prolifera in the intertidal zone along the SYS coast. However, there has been limited research tracking and monitoring their succession processes or conducting comparative genetic analyses with floating U. prolifera in corresponding years. Therefore, this study continuously monitors the succession process of attached outbreak species of U. prolifera along the SYS coast, utilizing morphological and molecular biological methods to investigate their phylogenetic relationship with floating U. prolifera. The findings suggest that the distribution of the attached outbreak species of U. prolifera occurred in the intertidal zone along the coast of Rudong, Jiangsu Province from February to April 2023. However, subsequent surveys up to March 2024 did not observe their presence again. Apart from May and June 2023, other months consistently exhibited a long-term presence of various species of attached macroalgae, including Ulva flexuosa, Ulva meridionalis, and Ulva linza. The morphological characteristics of the attached outbreak species closely resemble those of the floating U. prolifera. Genetic diversity analysis using ITS and 5S rDNA sequences revealed that all attached outbreak species and floating U. prolifera in the same year belong to the same haplotype with high conservation and consistency in their ITS and 5S rDNA sequences. This study also identified natural shedding among the attached outbreak species, confirming their potential as supplementary sources contributing to Yellow Sea green tide outbreaks along the SYS coast.

Melocular Evolution on Cold Temperature Adaptation of Chinese Rhesus Macaques

Introduction: Currently, macaques are used as animal models for human disease in biomedical research. There are two macaques species widely used as animal models, i.e., cynomolgus macaques and rhesus macaques. These two primates distribute widely, and their natural habitats are different. Cynomolgus macaques distribute in tropical climates, while rhesus macaques mostly distribute in relatively cold environments, and cynomolgus macaques have a common frostbite problem during winter when they are transferred to cold environments. Methods: In order to explore the molecular mechanisms underlying the temperature adaptation in macaques, genetic analysis and natural selection tests were performed. Based on the analysis of heat shock protein genes, DNAJC22, DNAJC28, and HSF5 showed positive selection signals. To these 3 genes, the significantly differential expression had been confirmed between cynomolgus macaques and Chinese rhesus macaques. Results: Molecular evolution analysis showed that mutations of DNAJC22, DNAJC28, and HSF5 in Chinese rhesus macaques could enable them to gain the ability to rapidly regulate body temperature. The heat shock proteins provided an important function for Chinese rhesus macaques, allowing them to adapt to a wide range of temperatures and spread widely. The selection time that was estimated suggested that the cold adaptation of Chinese rhesus macaques coincided with the time that the modern human populations migrated northward from tropic regions to relatively cold regions, and the selection genes were similar. Conclusion: This study elucidated the evolutionary history of cynomolgus macaques and rhesus macaques from molecular adaptation. Furthermore, it provided an evolutionary perspective to reveal the different distribution and adaptation of macaques. Cynomolgus macaques is an ideal biomedical animal model to mimic human natural frostbite.

Annotated image dataset with different stages of European pear rust for UAV-based automated symptom detection in orchards.

The evaluation of fruit genetic resources regarding a resistance to pathogens is an essential basis for subsequent selection in fruit breeding. Both genetic analysis and phenotyping of defined traits are important tools and provide decision data in the evaluation process. However, the phenotyping of plants is often carried out 'by hand' and remains the bottleneck in fruit breeding and fruit growing. The development of a digital and UAV (unmanned aerial vehicle)-based phenotyping method for the assessment of genotype-specific susceptibility or resistance against diseases in orchards would significantly increase the efficiency of plant breeding. In this framework, a workflow for drone-based monitoring of pathogens in orchards was developed using the European pear rust (Gymnosporangium sabinae) as model pathogen. Pear rust is widespread in orchards and causes conspicuous, clearly visible, yellow to orange-colored disease symptoms. In this paper, we provide a dataset with expert-annotated high-resolution RGB images with pear rust symptoms. For data collection, ten UAV-flight campaigns were realized between 2021 and 2023 under various weather conditions and with different flight parameters in the experimental orchard of the Julius Kühn-Institute for Breeding Research on Fruit Crops in Dresden-Pillnitz (Germany). 1394 images were captured of different pear genotypes, including varieties, wild species and progeny from breeding. The dataset contains manually labelled images with a size of 768 × 768 pixels of leaves infected with pear rust at different stages of development, labelled as class GYMNSA, as well as background images without symptoms. Each leaf with pear rust symptoms was annotated with the drawing method by two points (bounding boxes) using the Computer Vision Annotation Tool (CVAT, v1.1.0) [1] and presented in YOLO 1.1 file format (.txt files). A total of 584 annotated images and 162 background images, organized into a training and validation set, are included in the GYMNSA dataset. This GYMNSA dataset can be used as a resource for researchers and developers working on drone-based plant disease monitoring systems.

Ptosis in human immunodeficiency virus-infected patients under long-term antiretroviral treatment.

To present cases of ptosis in HIV-1 patients on long-term antiretroviral therapy (ART) and review the existing literature. Five HIV-1-positive patients with slowly progressive bilateral ptosis underwent a comprehensive diagnostic evaluation, including imaging studies, neurophysiological testing, muscle biopsy, and genetic analysis. A literature review was conducted. On clinical examination, all patients presented with bilateral symmetrical non-fatigable ptosis, three exhibited facial lipoatrophy and two also had mild multidirectional ophthalmoparesis and all had ocular abnormalities in Hess screen test. Additionally, one patient displayed proptosis, three had floppy lower eyelids, and four presented with exotropia. Anti-acetylcholine receptor antibodies were negative in all patients. Brain magnetic resonance imaging (MRI), motor unit potential analysis, and single-fiber electromyography were unremarkable. Orbital MRI revealed introrbital fat expansion in one patient, and limb muscle biopsies were inconclusive in two cases. Blood genetic testing for chronic progressive external ophthalmoplegia was negative in all patients. A total of 30 similar cases have been documented in the literature, with some studies reporting key findings such as muscle histology indicative of mitochondrial myopathy, MRI revealing patchy extraocular muscle hyperintensity, and muscle genetic testing identifying mitochondrial deoxyribonucleic acid (DNA) deletions. Ptosis surgical repair appears to be the most effective treatment. HIV patients on long-term ART may develop ocular muscle involvement due to mitochondrial dysfunction, with bilateral ptosis being the primary manifestation. Diagnosis is challenging and requires the exclusion of other conditions. Ptosis surgery can significantly improve quality of life.