Protective evaluation of the commercialized porcine reproductive and respiratory syndrome virus vaccines in piglets challenged by NADC34-like strain.

In China, the porcine reproductive and respiratory syndrome virus (PRRSV) has undergone several variations over the decades and contributed to the diversity of the clinical epidemic PRRSV strains. This has complicated the prevention and control of PRRS. In particular, the efficacy of the currently available commercial vaccines against the highly pathogenic NADC34-like strains is unclear. Therefore, the objective of this study was to evaluate the protection efficacy of three commercial PRRS modified-live virus (MLV) vaccines derived from classical PRRS VR2332 MLV and R98 MLV against challenge with a heterologous NADC34-like PRRSV strain, JS2021NADC34, which has high pathogenicity in pigs. PRRSV- and antibody-free piglets were immunized with the PRRS VR2332 MLV vaccine or either of two R98 MLV vaccines (from different manufacturers) and were challenged with the JS2021NADC34 strain 28 days after immunization. Rectal temperature, clinical symptoms, viremia and viral shedding from the nose, gross lesions in the thymus and lungs, microscopic lesions and viral distribution in the lungs, as well as the humoral immune response and mortality rates were recorded over a 14-day post-challenge period. The results showed that PRRS VR2332 MLV had better efficacy against the JS2021NADC34 challenge than PRRS R98 MLV, with vaccinated piglets in the former group showing transient and mild symptoms, mild pathological lesions in the lungs, mild thymic atrophy, and low viral levels in sera and nasal swabs, as well as better growth performance and a 100% survival rate. In contrast, two PRRS R98 MLVs exhibited limited efficacy against the JS2021NADC34 challenge, with the piglets in two R98 groups showing obvious clinical symptoms and pathological changes in the lungs and thymus; moreover, there were two deaths caused by PRRS in two R98 groups, respectively. Despite this, the mortality rate was lower than that of the unvaccinated piglets that were challenged with JS2021NADC34. The cumulative results demonstrate that PRRS VR2332 MLV was partly effective against the highly pathogenic PRRSV NADC34-like strain based on the observations over the 14-day post-challenge period. Thus, it might be a viable option among the commercially available vaccines for control of NADC34-like virus infections in swine herds.

Prevalence, Time of Infection, and Diversity of Porcine Reproductive and Respiratory Syndrome Virus in China.

Porcine reproductive and respiratory syndrome virus (PRRVS) is a major swine viral pathogen that affects the pig industry worldwide. Control of early PRRSV infection is essential, and different types of PRRSV-positive samples can reflect the time point of PRRSV infection. This study aims to investigate the epidemiological characteristics of PRRSV in China from Q4 2021 to Q4 2022, which will be beneficial for porcine reproductive and respiratory syndrome virus (PRRSV)control in the swine production industry in the future. A total of 7518 samples (of processing fluid, weaning serum, and oral fluid) were collected from 100 intensive pig farms in 21 provinces, which covered all five pig production regions in China, on a quarterly basis starting from the fourth quarter of 2021 and ending on the fourth quarter of 2022. Independent of sample type, 32.1% (2416/7518) of the total samples were PCR-positive for PRRSV, including 73.6% (1780/2416) samples that were positive for wild PRRSV, and the remaining were positive for PRRSV vaccine strains. On the basis of the time of infection, 58.9% suckling piglets (processing fluid) and 30.8% weaning piglets (weaning serum) showed PRRSV infection at an early stage (approximately 90% of the farms). The sequencing analysis results indicate a wide range of diverse PRRSV wild strains in China, with lineage 1 as the dominant strain. Our study clearly demonstrates the prevalence, infection stage, and diversity of PRRSV in China. This study provides useful data for the epidemiological understanding of PRRSV, which can contribute to the strategic and systematic prevention and control of PRRSV in China.

Bioinformatics Analysis and Experimental Validation of Differential Genes and Pathways in Bone Nonunions.

Non-union fractures pose a significant clinical challenge, often leading to prolonged pain and disability. Understanding the molecular mechanisms underlying non-union fractures is crucial for developing effective therapeutic interventions. This study integrates bioinformatics analysis and experimental validation to unravel key genes and pathways associated with non-union fractures. We identified differentially expressed genes (DEGs) between non-union and fracture healing tissues using bioinformatics techniques. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses were employed to elucidate the biological processes and pathways involved. Common DEGs were identified, and a protein-protein interaction (PPI) network was constructed. Fibronectin-1 (FN1), Thrombospondin-1 (THBS1), and Biglycan (BGN) were pinpointed as critical target genes for non-union fracture treatment. Experimental validation involved alkaline phosphatase (ALP) and Alizarin Red staining to confirm osteogenic differentiation. Our analysis revealed significant alterations in pathways related to cell behavior, tissue regeneration, wound healing, infection, and immune responses in non-union fracture tissues. FN1, THBS1, and BGN were identified as key genes, with their upregulation indicating potential disruptions in the bone remodeling process. Experimental validation confirmed the induction of osteogenic differentiation. The study provides comprehensive insights into the molecular mechanisms of non-union fractures, emphasizing the pivotal roles of FN1, THBS1, and BGN in extracellular matrix dynamics and bone regeneration. The findings highlight potential therapeutic targets and pathways for further investigation. Future research should explore interactions between these genes, validate results using in vivo fracture models, and develop tailored treatment strategies for non-union fractures, promising significant advances in clinical management.

Bioinformatics-based analysis of programmed cell death pathway and key prognostic genes in gastric cancer: Implications for the development of therapeutics.

BACKGROUND: Gastric cancer (GC) represents a major global health burden as a result of its high incidence and poor prognosis. The present study examined the role of the programmed cell death (PCD) pathway and identified key genes influencing the prognosis of patients with GC. METHODS: Bioinformatics analysis, machine learning techniques and survival analysis were systematically integrated to identify core prognostic genes from the The Cancer Genome Atlas Stomach Adenocarcinoma (TCGA-STAD) dataset. A prognostic model was then developed to stratify patients into high-risk and low-risk groups, and further validated in the GSE84437 dataset. The model also demonstrated clinical relevance with tumor staging and histopathology. Immune infiltration analysis and the potential benefits of immunotherapy for each risk group were assessed. Finally, subgroup analysis was performed based on the expression of three key prognostic genes. RESULTS: Three core prognostic genes (CAV1, MMP9 and MAGEA3) were identified. The prognostic model could effectively differentiate patients into high-risk and low-risk groups, leading to significantly distinct survival outcomes. Increased immune cell infiltration was observed in the high-risk group, and better potential for immunotherapy outcomes was observed in the low-risk group. Pathways related to cancer progression, such as epithelial-mesenchymal transition and tumor necrosis factor-α signaling via nuclear factor-kappa B, were enriched in the high-risk group. By contrast, the low-risk group showed a number of pathways associated with maintenance of cell functionality and immune responses. The two groups differed in gene mutation patterns and drug sensitivities. Subgroup analysis based on the expression of the three key genes revealed two distinct clusters with distinct survival outcomes, tumor immune microenvironment characteristics and pathway enrichment. CONCLUSIONS: The present study offers novel insights into the significance of PCD pathways and identifies key genes associated with the prognosis of patients with GC. This robust prognostic model, along with the delineation of distinct risk groups and molecular subtypes, provides valuable tools for risk stratification, treatment selection and personalized therapeutic interventions for GC.

Drivers and mechanisms of spontaneous plant community succession in abandoned PbZn mining areas in Yunnan, China.

The drivers and mechanisms underlying succession and the spontaneous formation of plant communities in mining wasteland remain largely unknown. This study investigated the use of nature-based restoration to facilitate the recovery of viable plant communities in mining wasteland. It was found that scientific analyses of spontaneously formed plant communities in abandoned mining areas can provide insights for nature-based restoration. A chronosequence ("space for time") approach was used to establish sites representing three successional periods with six successional stages, and 90 quadrats were constructed to investigate changes in plant species and functional diversity during succession in abandoned PbZn mining areas. A total of 140 soil samples were collected to identify changes in soil properties, including plant nutrient and heavy metal concentrations. Then, this paper used structural equation models to analyze the mechanisms that drive succession. It was found that the functional diversity of plant communities fluctuated substantially during succession. Species had similar functional traits in early and mid-succession, but traits tended to diverge during late succession. Soil bulk density and soil organic matter gradually increased during succession. Total nitrogen (N), pH, and soil Zn concentrations first increased and then decreased during succession. Concentrations of Mn and Cd gradually decreased during succession. During early succession, soil organic matter was the key factor driving plant colonization and succession. During mid-succession, soil Zn functioned as an environmental filter factor limiting the rates of succession in mining wasteland communities. During late succession, soil bulk density and competition for nutrient resources contributed to more balanced differentiation among plant species. This thesis proposed that a nature-based strategy for the stabilization of abandoned mining lands could facilitate effective plant community restoration that promotes ecosystem services and functioning.

Elucidating the role of T-cell exhaustion-related genes in colorectal cancer: a single-cell bioinformatics perspective.

Colorectal cancer (CRC) remains a significant global health issue. In this study, the role of T-cell exhaustion-related genes (TEXs) in CRC was investigated using single-cell and bulk RNA-seq analysis. This research involved extensive data analysis using multiple databases, including the TCGA-COAD cohort, GSE14333, and GSE39582. Through single-cell analysis, distinct cell populations within CRC samples were identified and classified T-cells into four subgroups: regulatory T-cells (Tregs), conventional CD4+ T-cells (CD4+ T conv), CD8+ T, and CD8+ T exhausted cells. Intercellular communication networks and signaling pathways associated with TEXs using computational tools such as CellChat and PROGENy. Additionally, TEX-related alterations in tumor gene pathways were analyzed through Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses. Prognostic models were developed, and their correlation with immune infiltration was assessed. The study revealed the presence of distinct cell populations within CRC, with TEXs playing a crucial role in the tumor microenvironment. CD8+ T exhausted cells exhibited expression of specific markers, indicating their involvement in tumor immune evasion. CellChat and PROGENy analyses revealed intricate communication networks and signaling pathways associated with TEXs, including RNA splicing and viral carcinogenesis. Furthermore, the prognostic risk model developed on the basis of TEXs demonstrated its efficacy in stratifying CRC patients. This risk model exhibited strong correlations with immune infiltration by various effector immune cells, highlighting the influence of TEXs on the tumor immune response. The complex interactions and signaling pathways underlying TEX-associated immune dysregulation in CRC were revealed by employing advanced analytical approaches. The development of a prognostic risk model based on TEXs offers a promising tool for prognostic stratification in patients with CRC. Furthermore, the correlations observed between TEXs and immune infiltration provide valuable insights into the potential of TEXs as therapeutic targets and highlight the need for further investigation into TEX-mediated immune evasion mechanisms. This study thus provides valuable insights into the role of TEXs in CRC.

Effects of Heavy Metals on Stomata in Plants: A Review.

Stomata are one of the important structures for plants to alleviate metal stress and improve plant resistance. Therefore, a study on the effects and mechanisms of heavy metal toxicity to stomata is indispensable in clarifying the adaptation mechanism of plants to heavy metals. With the rapid pace of industrialization and urbanization, heavy metal pollution has been an environmental issue of global concern. Stomata, a special physiological structure of plants, play an important role in maintaining plant physiological and ecological functions. Recent studies have shown that heavy metals can affect the structure and function of stomata, leading to changes in plant physiology and ecology. However, although the scientific community has accumulated some data on the effects of heavy metals on plant stomata, the systematic understanding of the effects of heavy metals on plant stomata remains limited. Therefore, in this review, we present the sources and migration pathways of heavy metals in plant stomata, analyze systematically the physiological and ecological responses of stomata on heavy metal exposure, and summarize the current mechanisms of heavy metal toxicity on stomata. Finally, the future research perspectives of the effects of heavy metals on plant stomata are identified. This paper can serve as a reference for the ecological assessment of heavy metals and the protection of plant resources.

Flavonol glycoside complanatoside A requires FOXO/DAF-16, NRF2/SKN-1, and HSF-1 to improve stress resistances and extend the life span of Caenorhabditis elegans.

Aging is associated with the increased risk of most age-related diseases in humans. Complanatoside A (CA) is a flavonoid compound isolated from the herbal medicine Semen Astragali Complanati. CA was reported to have potential anti-inflammatory and anti-oxidative activities. In this study, we investigated whether CA could increase the stress resistance capability and life span of Caenorhabditis elegans. Our results showed that CA could extend the longevity of C. elegans in a dosage-dependent manner, while 50 µM of CA has the best effect and increased the life span of C. elegans by about 16.87%. CA also improved the physiological functions in aging worms, such as enhanced locomotor capacity, and reduced the accumulation of the aging pigment. CA could also reduce the accumulation of toxic proteins (α-synuclein and ß-amyloid) and delay the onset of neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease, in models of C. elegans. Further investigation has revealed that CA requires DAF-16/FOXO, SKN-1, and HSF-1 to extend the life span of C. elegans. CA could increase the antioxidation and detoxification activities regulated by transcription factor SKN-1 and the heat resistance by activating HSF-1 that mediated the expression of the chaperone heat shock proteins. Our results suggest that CA is a potential antiaging agent worth further research for its pharmacological mechanism and development for pharmaceutical applications.

An Insertion Variant in CRH Confers an Increased Risk of Central Serous Chorioretinopathy.

Purpose: To identify a novel corticotropin-releasing hormone (CRH) gene variant relevant in patients with central serous chorioretinopathy (CSC). Methods: We performed a genetic study of CSC in families and sporadic cases with controls. Using whole-exome sequencing and linkage analysis, we identified a heterozygous insertion variant, Gln52insPro, in the CRH gene that cosegregated in two Chinese families with CSC. This variant was evaluated among an additional 1307 patients with CSC and 1438 ethnicity-matched control individuals from three independent Chinese cohorts. Results: The CRH variant was strongly associated with CSC in these cohorts of Chinese patients (Pmeta = 1.24 × 10-11; odds ratio, 3.01; 95% confidence interval, 2.15-4.21). The risk variant Gln52insPro decreased CRH gene expression. Conclusions: Our results implicate the hypothalamic-pituitary-adrenal stress response system in the pathogenesis of CSC and provide a novel rationale for therapeutic intervention.

Para-Hydroxybenzyl Alcohol Delays the Progression of Neurodegenerative Diseases in Models of Caenorhabditis elegans through Activating Multiple Cellular Protective Pathways.

The traditional Chinese medicine Gastrodia elata (commonly called "Tianma" in Chinese) has been widely used in the treatment of rheumatism, epilepsy, paralysis, headache, and dizziness. Phenolic compounds, such as gastrodin, para-hydroxybenzyl alcohol (HBA), p-hydroxybenzaldehyde, and vanillin are the main bioactive components isolated from Gastrodia elata. These compounds not only are structurally related but also share similar pharmacological activities, such as antioxidative and anti-inflammatory activities, and effects on the treatment of aging-related diseases. Here, we investigated the effect of para-hydroxybenzyl alcohol (HBA) on neurodegenerative diseases and aging in models of Caenorhabditis elegans (C. elegans). Our results showed that HBA effectively delayed the progression of neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, and Huntington's disease in models of C. elegans. In addition, HBA could increase the average lifespan of N2 worms by more than 25% and significantly improve the age-related physiological functions of worms. Moreover, HBA improved the survival rate of worms under stresses of oxidation, heat, and pathogenic bacteria. Further mechanistic investigation revealed that HBA could activate FOXO/DAF-16 and SKN-1 to regulate antioxidative and xenobiotic metabolism pathway. HBA could also activate HSF-1 to regulate proteostasis maintenance pathway, mitochondrial unfolded stress response, endoplasmic stress response and autophagy pathways. The above results suggest that HBA activated multiple cellular protective pathways to increase stress resistance and protect against aging and aging-related diseases. Overall, our study indicates that HBA is a potential candidate for future development of antiaging pharmaceutical application.

Orientin Prolongs the Longevity of Caenorhabditis elegans and Postpones the Development of Neurodegenerative Diseases via Nutrition Sensing and Cellular Protective Pathways.

Age is the major risk factor for most of the deadliest diseases. Developing small molecule drugs with antiaging effects could improve the health of aged people and retard the onset and progress of aging-associated disorders. Bioactive secondary metabolites from medicinal plants are the main source for development of medication. Orientin is a water-soluble flavonoid monomer compound widely found in many medicinal plants. Orientin inhibits fat production, antioxidation, and anti-inflammatory activities. In this study, we explored whether orientin could affect the aging of C. elegans. We found that orientin improved heat, oxidative, and pathogenic stress resistances through activating stress responses, including HSF-1-mediated heat shock response, SKN-1-mediated xenobiotic and oxidation response, mitochondria unfolded responses, endoplasmic unfolded protein response, and increased autophagy activity. Orientin also could activate key regulators of the nutrient sensing pathway, including AMPK and insulin downstream transcription factor FOXO/DAF-16 to further improve the cellular health status. The above effects of orientin reduced the accumulation of toxic proteins (α-synuclein, ß-amyloid, and poly-Q) and delayed the onset of neurodegenerative disorders in AD, PD, and HD models of C. elegans and finally increased the longevity and health span of C. elegans. Our results suggest that orientin has promising antiaging effects and could be a potential natural source for developing novel therapeutic drugs for aging and its related diseases.

Efficacy of the Synergy Between Live-Attenuated and Inactivated PRRSV Vaccines Against a NADC30-Like Strain of Porcine Reproductive and Respiratory Syndrome Virus in 4-Week Piglets.

The NADC30-like strain of porcine reproductive and respiratory syndrome virus (PRRSV) is a novel strain responsible for substantial economic losses to swine production in China. This study evaluated the cross-protective efficacy of the synergy between live-attenuated and inactivated PRRSV vaccines compared with a single vaccination with PRRS modified-live virus (MLV) vaccine against challenge with NADC30-like strain, v2016/ZJ/09-03. A total of 45 PRRSV free pigs were randomly divided into five groups: (1) strict control (SC); (2) positive control (PC); (3) single MLV dose (M1); (4) primed intramuscularly with MLV and boosted with killed vaccine 3 weeks later (MK1); and (5) intramuscular prime MLV boosted subcutaneously with killed vaccine B 3 weeks later (MK2). Serological tests in MK groups revealed no differences in both anti-N and anti-GP protein antibodies compared with M1 group, and failed to provide further protection against clinical signs, virus shedding, and gross lesions. However, the viremic titer, gross lung lesions, and average daily weight gain were significantly improved in the MLV vaccinated groups, suggesting that MLV provides substantial cross-protection against the NADC30-like virus. Thus, as a booster, the killed vaccine confers minimal additional protection in NADC30-like infected piglets.

Efficient management strategy of COVID-19 patients based on cluster analysis and clinical decision tree classification.

Early classification and risk assessment for COVID-19 patients are critical for improving their terminal prognosis, and preventing the patients deteriorate into severe or critical situation. We performed a retrospective study on 222 COVID-19 patients in Wuhan treated between January 23rd and February 28th, 2020. A decision tree algorithm has been established including multiple factor logistic for cluster analyses that were performed to assess the predictive value of presumptive clinical diagnosis and features including characteristic signs and symptoms of COVID-19 patients. Therapeutic efficacy was evaluated by adopting Kaplan-Meier survival curve analysis and cox risk regression. The 222 patients were then clustered into two groups: cluster I (common type) and cluster II (high-risk type). High-risk cases can be judged from their clinical characteristics, including: age > 50 years, chest CT images with multiple ground glass or wetting shadows, etc. Based on the classification analysis and risk factor analysis, a decision tree algorithm and management flow chart were established, which can help well recognize individuals who needs hospitalization and improve the clinical prognosis of the COVID-19 patients. Our risk factor analysis and management process suggestions are useful for improving the overall clinical prognosis and optimize the utilization of public health resources during treatment of COVID-19 patients.

Efficacy of two porcine reproductive and respiratory syndrome (PRRS) modified-live virus (MLV) vaccines against heterologous NADC30-like PRRS virus challenge.

The emergence of novel and variant porcine reproductive and respiratory syndrome virus (PRRSV) strains has made controlling this disease a challenge in China. Several NADC30-like PRRSV outbreaks have occurred in mainland China since 2013. The objective of the present study was to evaluate the cross-protection efficacy of two commercial PRRS modified-live virus (MLV) vaccines, derived from classical PRRSV (VR2332) and highly pathogenic (HP) PRRSV (TJM-F92), against an increasingly circulating NADC30-like lineage in pigs. Thirty-five PRRSV- and antibody-free pigs were randomly divided into the following four groups: strict control (SC), negative control (NC), Boehringer control (BC), and Zoetis control (ZC) groups. The NADC30-like PRRSV used in this study caused fever, clinical respiratory signs, and gross and microscopic lung lesions in inoculated pigs in the NC group. Vaccination with the VR2332 vaccine significantly reduced the percentage of viremic pigs as well as gross lung lesions and improved average daily weight gain compared to the ZC and NC groups, suggesting that this MLV vaccine provides cross-protection against the NADC30-like virus. There were no significant differences in the efficacy of the two MLV vaccines based on clinical scores, immunological responses, or pathological outcomes. This study demonstrated that VR2332 MLV was effective against circulating NADC30-like PRRSV and could be used to control NADC30-like virus infections in the field.

Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency.

OBJECTIVE: The aim of this retrospective study is to determine the monogenic syndromes in fetuses with isolated first-trimester increased nuchal translucency (NT) in order to provide more accurate parental counseling. METHODS: Medical trio exome sequencing (ES) was performed on DNA extracted from chorionic villi in 73 fetuses with isolated first-trimester increased NT (≥3.5 mm) and normal chromosomal microarray analysis (CMA). This testing targets coding exons for 4200 clinically relevant disease-causing genes. The interpretation of variants was performed according to the American College of Medical Genetics guidelines. RESULTS: Pathogenic variants were detected in four cases in which phenotypes and genotypes correlate well. Medical trio ES offered a 5.5% (4/73) increase in diagnostic rate over CMA in cases with isolated increased NT. Three of four cases with pathogenic variants developed structural anomalies on ultrasound at mid pregnancy, leading to the pregnancy termination. Only one case with a pathogenic variant demonstrated normal ultrasound throughout pregnancy. CONCLUSION: Our results indicate that after a normal CMA, fetuses with isolated first-trimester increased NT have a 1.4% (1/73) risk of significant childhood genetic syndromes caused by known disease-causing variants, which will not be detectable on prenatal ultrasound. This information may be useful in parental counseling.

CT Morphological Features Integrated With Whole-Lesion Histogram Parameters to Predict Lung Metastasis for Colorectal Cancer Patients With Pulmonary Nodules.

Purpose: To retrospectively identify the relationships between both CT morphological features and histogram parameters with pulmonary metastasis in patients with colorectal cancer (CRC) and compare the efficacy of single-slice and whole-lesion histogram analysis. Methods: Our study enrolled 196 CRC patients with pulmonary nodules (136 in the training dataset and 60 in the validation dataset). Twenty morphological features of contrast-enhanced chest CT were evaluated. The regions of interests were delineated in single-slice and whole-tumor lesions, and 22 histogram parameters were extracted. Stepwise logistic regression analyses were applied to choose the independent factors of lung metastasis in the morphological features model, the single-slice histogram model and whole-lesion histogram model. The areas under the curve (AUC) was applied to quantify the predictive accuracy of each model. Finally, we built a morphological-histogram nomogram for pulmonary metastasis prediction. Results: The whole-lesion histogram analysis (AUC of 0.888 and 0.865 in the training and validation datasets, respectively) outperformed the single-slice histogram analysis (AUC of 0.872 and 0.819 in the training and validation datasets, respectively) and the CT morphological features model (AUC of 0.869 and 0.845 in the training and validation datasets, respectively). The morphological-histogram model, developed with significant morphological features and whole-lesion histogram parameters, achieved favorable discrimination in both the training dataset (AUC = 0.919) and validation dataset (AUC = 0.895), and good calibration. Conclusions: CT morphological features in combination with whole-lesion histogram parameters can be used to prognosticate pulmonary metastasis for patients with colorectal cancer.

Congenital Cystic Diaphragm with Diaphragmatic Eventration in a Fetus: A Case Presentation.

Introduction: Congenital diaphragmatic eventration (CDE) is defined as the abnormal elevation of the diaphragm, due to incomplete muscularization of the diaphragm with a thin membranous sheet replacing normal diaphragmatic muscle. Case report: We report a prenatal case with a diaphragmatic mesothelial cyst combined with CDE. Conclusion: A large cystic mass between the thoracic wall and the liver in early pregnancy is highly suggestive of cystic diaphragm.

Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series.

The 17q12 deletion syndrome is a chromosomal anomaly resulting from the interstitial microdeletion of the long arm of chromosome 17. The aim of this study was to present the experience on prenatal diagnosis of 17q12 deletion to further define the prenatal phenotypes of this syndrome. Eleven pregnancies with foetal 17q12 deletion detected by chromosomal microarray (CMA) were retrospectively included at a single Chinese tertiary medical centre. Clinical data were reviewed for these cases, including the maternal demographics, foetal ultrasound findings, CMA results and pregnancy outcomes. The deletion sizes of 17q12 ranged from 1.42 to 1.94 Mb. The deletion had arisen de novo in 10 cases and inherited from one of the parents in one case. Variable kidney abnormalities were found by ultrasound in all of the cases, with bilateral or unilateral hyperechogenic kidneys being the most common findings. This study indicates that a strikingly high correlation between prenatal hyperechogenic kidneys and 17q12 deletion, and prenatal testing with CMA should be offered to the foetal cases of hyperechogenic kidneys. Impact statement What is already known on this subject? 17q12 deletion syndrome is a cause of renal abnormalities, maturity-onset diabetes of the young and neurodevelopmental disorders. Prenatal diagnosis has been reported in several isolated cases with the use of microarray-based technologic means. What do the results of this study add? The results provide further evidence that a strikingly high correlation between prenatal hyperechogenic kidneys and 17q12 deletion, and genetic testing should be offered to foetal cases with hyperechogenic kidneys. A rare prenatal case of 17q12 deletion with multiple structural malformations and anhydramnios is presented. What are the implications of these findings for clinical practice and/or further research? There should be a high index of suspicion of carriers in parents when 17q12 deletion is confirmed prenatally. An extremely wide phenotype spectrum of this deletion should be emphasised in the prenatal counselling.