ObjectiveTo enhance the genetic diagnostic yield for fetal short femur length （FL） and to evaluate the integration of whole exome sequencing （WES） with chromosomal abnormality detection in prenatal diagnosis. MethodsA total of 27 mid-to-late trimester fetuses diagnosed with short FL ［FL < 5th percentile for gestational age or < -2 SD （Standard Deviation）］ at the Prenatal Diagnosis And Medical Genetics Center，Shenshan Medical Center，Memorial Hospital of Sun Yat-Sen University between November 2023 and May 2025 were included. Amniotic fluid or umbilical cord blood samples were collected and subjected to chromosomal karyotyping （19cases）， chromosomal microarray analysis （CMA） or low-coverage whole genome copy number variation（CNV-Seq） （27 cases）， and trio-based whole exome sequencing （trio-WES） （27 cases）. The pathogenicity of genetic variants were interpreted according to the American College of Medical Genetics and Genomics （ACMG） guidelines. ResultsTwenty-six genomic variants were detected in 17 of the 26 fetuses， including numerical chromosomal abnormalities （mosaic type）， copy number variations （CNVs）， single nucleotide variants （SNVs） and insertions-deletions （INDELs）. Genomic variants detected in 11 cases could explain the short femur phenotype.The overall diagnostic rate was 11/27， with pathogenic/likely pathogenic variants explaining 9 cases and variants of uncertain significance （VUS） accounting for 1 cases. In addition Chromosomal karyotype analysis revealed chromosome mosaicism explaining 1 case. The diagnostic rate of CNV detection （CMA/CNV-seq） was 2/27， while WES achieved a diagnostic rate of 10/27， with an incremental yield of 8/27 in cases with negative or inconclusive CNV results. Pathogenic mutations involved genes such as FGFR3， SHOX， DUOX2， CLCN5， and HBA1/HBA2. ConclusionTrio-WES significantly improves the genetic diagnostic rate for fetal short femur length， particularly in cases where chromosomal analysis fails to identify a cause. Karyotyping remains valuable for detecting low-level mosaicism in large-scale chromosomal abnormalities， thereby complementing WES and CNV detection. A stepwise or parallel genetic testing strategy is recommended in prenatal diagnosis to optimize diagnostic efficiency and support clinical decision-making.

The herb pair Hedysari Radix-Angelicae Sinensis Radix is a classic combination embodying the theory of replenishing Qi and tonifying blood in traditional Chinese medicine. The two herbs are often used together to achieve the effects of replenishing Qi， tonifying blood， activating blood， and unblocking collaterals. Clinically， this herb pair is widely applied in the treatment of blood deficiency syndrome and hematopoietic dysfunction disorders such as myelosuppression induced by radiotherapy and chemotherapy. Modern research indicates that Hedysari Radix-Angelicae Sinensis Radix and their active components can synergistically promote hematopoiesis through multiple targets and pathways. At the cellular level， the active components directly activate hematopoietic stem cells （HSCs） and hematopoietic progenitor cells （HPCs）， promoting their proliferation and differentiation， while simultaneously stimulating the production and release of peripheral blood cells. Regarding molecular regulation， this herb pair can regulate the expression of various hematopoietic-related cytokines， such as stem cell factor and erythropoietin. Additionally， it modulates key signaling pathways， including phosphatidylinositol 3-kinase （PI3K）/protein kinase B （Akt） and Wnt/β-catenin， providing signal support for the hematopoietic process. Furthermore， Hedysari Radix-Angelicae Sinensis Radix can improve the hematopoietic microenvironment， protect bone marrow stromal cells， and eliminate free radicals through antioxidant effects， thereby reducing damage to hematopoietic cells. Furthermore， this herb pair regulates apoptosis-related proteins to inhibit excessive apoptosis of hematopoietic cells and increase their survival rate. Its material basis primarily includes active components such as Hedysarum polybotrys polysacchcrides and flavonoids， as well as Angelica sinensis polysaccharides and ferulic acid， which synergistically contribute to its hematopoietic-promoting effects. By elaborating on the active components and mechanisms of Hedysari Radix-Angelicae Sinensis Radix in promoting hematopoiesis， this paper aims to elucidate the molecular mechanisms underlying their hematopoietic effects and provide a reference for further research and clinical application.

Objective To investigate the changes in the prevalence of Babesia microti infections, spleen morphology and proportions of splenic immune cells in BALB/c mice following intravenous and intraperitoneal injections, so as to provide insights into unraveling the immune regulatory mechanisms of Babesia infections. Methods Laboratory - maintained B. microti strains were prepared into whole blood samples with 10% prevalence of B. microti infection. A total of 75 BALB/c mice were randomly divided into three groups, including the normal control group, intravenous injection group, and intraperitoneal injection group, of 25 mice in each group. Mice in the intravenous and intraperitoneal injection groups were administered 100 μL of whole blood samples with 10% prevalence of B. microti infection, with the day of injection recorded as d0, and animals in the normal control group were given no treatments. Blood was sampled from mice in each group via the tail tip on d7, d14, d21, d28 and d35, and prepared into thin-film blood smears, and B. microti infection was observed in red blood cells. Five mice were randomly sampled from each group and sacrificed on d7, d14, d21, d28 and d35, and spleen was collected for measurement of spleen size and weight. In addition, splenic cells were isolated, and the proportions of CD3e⁺ T cells, CD45R⁺ B cells, CD49b⁺ nature killer (NK) cells, and F4/80⁺ macrophages were detected in CD45⁺ lymphocytes using flow cytometry. Results The prevalence of B. microti infection in the intravenous (22.80%) and intraperitoneal injection groups (44.82%) peaked on d7 (χ² = 8.141, P < 0.01) and then rapidly decreased, and no parasites were observed on d35. The longest mouse spleen length [(32.91 ± 2.20) mm] and width [(9.82 ± 0.43) mm], and the greatest weight [(0.78 ± 0.10) g] were found on d14 in the intravenous injection group, and the longest spleen length [(32.42 ± 3.21) mm] and width [(10.25 ± 0.73) mm], and the greatest weight [(0.73 ± 0.09) g] were seen in the intra-peritoneal injection group on d21, d7 and d14, respectively. There were significant differences among the intravenous injection group, intraperitoneal injection group and the normal control group in terms of spleen length (F = 10.310, P < 0.05), width (F = 9.824, P < 0.05), and weight (F = 10.672, P < 0.05) on d21, and the mouse spleen length, width and weight were all significantly greater in the intraperitoneal injection group than in the intravenous injection group (allP values < 0.05). The proportions of splenic CD3e⁺ T cells [(60.60 ± 6.20)% and (39.68 ± 7.62)%], CD45R⁺ B cells [(43.32 ± 2.08)% and (49.53 ± 4.90)%], CD49b⁺ NK cells [(6.88 ± 1.34)% and (7.71 ± 1.59)%], and F4/80⁺ macrophages [(2.21 ± 0.29)% and (3.80 ± 0.35)%] peaked on d14, d21, d21 and d14 in the intravenous and intraperitoneal injection groups, respectively. There were significant differences in the proportions of CD3e⁺ T cells (F = 16.730, P < 0.05) and F4/80⁺ macrophages (F = 15.941, P < 0.05) among the intravenous injection group, intraperitoneal injection group and normal control group on d14, and a higher proportion of CD3e⁺ T cells and a lower proportion of F4/80⁺ macrophages were detected in the intravenous injection group than in the intraperitoneal injection group (both P values < 0.01). There were significant differences among the intravenous injection group, intraperitoneal injection group and normal control group on d21 in terms of proportions of splenic CD3e⁺ T cells (F = 9.252, P < 0.05), CD45R⁺ B cells (F = 14.349, P < 0.05), CD49b⁺ NK cells (F = 13.436,P < 0.05), and F4/80⁺ macrophages (F = 8.180, P < 0.05), and a higher proportion of CD3e⁺ T cells and lower proportions of CD45R⁺ B cells and F4/80⁺ macrophages were detected in the intravenous injection group than in the intraperitoneal injection group (all P values < 0.01). In addition, there was a significant difference in the proportion of CD3e⁺ T cells among the intravenous injection group, intraperitoneal injection group and normal control group on d28 (F = 9.772,P < 0.05), and a lower proportion of CD3e⁺ T cells was found in the intravenous injection group than in the intraperitoneal injection group (P < 0.01). Conclusions Both intraperitoneal and intravenous routes are effective to induce B. microti infections in BALB/c mice, and the prevalence of B. microti infections is higher in BALB/c mice through the intraperitoneal route than through the intravenous route. Intraperitoneal and intravenous injections with B. microti cause diverse spleen morphologies and proportions of splenic immune cells in mice, indicating routes of B. microti infections cause different impacts on immune response mechanisms in mice.

Objective:To learn about the clinical characteristics of patients with neurobrucellosis (NB) and provide references for clinical diagnosis and treatment of NB.Methods:The clinical data of 22 NB patients diagnosed and treated at Beidahuang Industry Group General Hospital from January 2018 to November 2024 and 178 healthy individuals undergoing physical examinations during the same period were retrospectively collected. The epidemiological characteristics, clinical manifestations, laboratory tests, treatment and prognosis of NB patients were analyzed.Results:Among the 22 NB patients, 12 were males (54.55%) and 10 were females (45.45%). The age was (51.77 ± 12.75) years old, ranging from 27 to 80 years old. Most of the patients were farmers (95.45%, 21/22), and 16 cases (72.73%) had contacted with cattle/sheep. The onset seasons were mainly in summer (40.91%, 9/22) and spring (31.82%, 7/22). Among all NB patients, there were 10 cases of encephalitis/meningoencephalitis, 9 cases of myelitis, and 3 cases of meningitis. The general symptoms were mainly fever (68.18%, 15/22), the neurological symptoms were mainly nausea and vomiting (36.36%, 8/22), and the physical signs were mainly muscle weakness (50.00%, 11/22) and pathological signs (45.45%, 10/22). The laboratory test results showed that the levels of hemoglobin, hematocrit, C-reactive protein, total protein, albumin, γ-glutamyl transpeptidase, α-hydroxybutyric acid dehydrogenase, lactate dehydrogenase, and glutathione reductase in NB patients were significantly different from those in healthy individuals ( P < 0.001). Brain magnetic resonance imaging revealed ischemic changes in 5 cases (22.73%), abnormal brain signals in 2 cases (9.09%), and demyelinating lesions in white matter in 1 case (4.55%). After treatment, 18 NB patients were followed up and showed good prognosis, with only 2 cases exhibiting varying degrees of sequelae (walking disorders or memory impairment). Conclusions:The clinical manifestations of NB patients are diverse. A comprehensive judgment should be made by combining epidemiological characteristics, clinical manifestations, laboratory tests and imaging examinations.

Objective:To explore the correlations of sleep quality and architecture with heart rate variability (HRV) in patients with stenoses of vertebrobasilar artery system and internal carotid artery system.Methods:A retrospective study was performed; 72 patients with stenosis or occlusion of the head and neck arteries (not resulting in cerebral infarction) admitted to Department of Neurology, Second Affiliated Hospital of Zhengzhou University from June 2023 to June 2024 were chosen, including 33 patients with moderate-to-severe stenosis or occlusion of the vertebrobasilar system (VB group) and 39 patients with moderate-to-severe stenosis or occlusion of the internal carotid artery system (ICA group). Pittsburgh sleep quality index (PSQI) and polysomnography (PSG) were used to evaluate the sleep quality and architecture, respectively; and 24-hour ambulatory electrocardiogram was used to assess the HRV. Differences in PSQI score, PSG and HRV parameters between the two groups were compared; partial correlation analysis was used to explore the correlations of HRV parameters with PSQI scores and PSG parameters; multivariate linear regression was used to analyze the independent influencing factors for HRV.Results:(1) Compared with the ICA group, the VB group exhibited significantly higher PSQI scores, spontaneous arousal index (SAI), ratio of time of stage 1 non-rapid eye movement sleep/total sleep time (T N1/T t), and apnea-hypopnea index (AHI), while significantly lower ratio of time of rapid eye movement sleep/total sleep time (T R/T t), spindle wave density in stage 2 non-rapid eye movement sleep (N2), lowest blood oxygen saturation, standard deviation of normal to normal intervals (SDNN) of all sinus beats, low-frequency power (LF), and high-frequency power (HF, P<0.05). (2) In both VB group and ICA group, SDNN was negatively correlated with PSQI score ( r=-0.461, P=0.020; r=-0.378, P=0.036). In the VB group, SDNN was negatively correlated with T N1/T t ( r=-0.467, P=0.019) and SAI ( r=-0.551, P=0.004), and positively correlated with ratio of time of stage 3 non-rapid eye movement sleep/total sleep time (T N3/T t, r=0.686, P<0.001) and spindle wave density in N2 ( r=0.518, P=0.008); LF and HF were negatively correlated with SAI ( r=-0.481, P=0.015; r=-0.564, P=0.003). In the ICA group, HF was negatively correlated with spindle wave density in N2 ( r=-0.369; P=0.041). (3) Multivariate linear regression results indicated that T N3/T t (β=0.348, P=0.018), SAI (β=-0.330, P=0.018), and spindle wave density in N2 (β=0.286, P=0.013) were independent influencing factors for Ln_SDNN in patients with moderate-to-severe stenosis or occlusion of the vertebrobasilar system. Conclusion:Patients with stenosis or occlusion of the vertebrobasilar system exhibit poorer subjective sleep quality, increased light sleep, heightened arousal, and reduced sleep stability compared with those with stenosis or occlusion of the internal carotid artery system, which may be caused by the imbalance of autonomic nerve function.

Objective:To learn about the clinical characteristics of patients with neurobrucellosis (NB) and provide references for clinical diagnosis and treatment of NB.Methods:The clinical data of 22 NB patients diagnosed and treated at Beidahuang Industry Group General Hospital from January 2018 to November 2024 and 178 healthy individuals undergoing physical examinations during the same period were retrospectively collected. The epidemiological characteristics, clinical manifestations, laboratory tests, treatment and prognosis of NB patients were analyzed.Results:Among the 22 NB patients, 12 were males (54.55%) and 10 were females (45.45%). The age was (51.77 ± 12.75) years old, ranging from 27 to 80 years old. Most of the patients were farmers (95.45%, 21/22), and 16 cases (72.73%) had contacted with cattle/sheep. The onset seasons were mainly in summer (40.91%, 9/22) and spring (31.82%, 7/22). Among all NB patients, there were 10 cases of encephalitis/meningoencephalitis, 9 cases of myelitis, and 3 cases of meningitis. The general symptoms were mainly fever (68.18%, 15/22), the neurological symptoms were mainly nausea and vomiting (36.36%, 8/22), and the physical signs were mainly muscle weakness (50.00%, 11/22) and pathological signs (45.45%, 10/22). The laboratory test results showed that the levels of hemoglobin, hematocrit, C-reactive protein, total protein, albumin, γ-glutamyl transpeptidase, α-hydroxybutyric acid dehydrogenase, lactate dehydrogenase, and glutathione reductase in NB patients were significantly different from those in healthy individuals ( P < 0.001). Brain magnetic resonance imaging revealed ischemic changes in 5 cases (22.73%), abnormal brain signals in 2 cases (9.09%), and demyelinating lesions in white matter in 1 case (4.55%). After treatment, 18 NB patients were followed up and showed good prognosis, with only 2 cases exhibiting varying degrees of sequelae (walking disorders or memory impairment). Conclusions:The clinical manifestations of NB patients are diverse. A comprehensive judgment should be made by combining epidemiological characteristics, clinical manifestations, laboratory tests and imaging examinations.

Objective:To explore the correlations of sleep quality and architecture with heart rate variability (HRV) in patients with stenoses of vertebrobasilar artery system and internal carotid artery system.Methods:A retrospective study was performed; 72 patients with stenosis or occlusion of the head and neck arteries (not resulting in cerebral infarction) admitted to Department of Neurology, Second Affiliated Hospital of Zhengzhou University from June 2023 to June 2024 were chosen, including 33 patients with moderate-to-severe stenosis or occlusion of the vertebrobasilar system (VB group) and 39 patients with moderate-to-severe stenosis or occlusion of the internal carotid artery system (ICA group). Pittsburgh sleep quality index (PSQI) and polysomnography (PSG) were used to evaluate the sleep quality and architecture, respectively; and 24-hour ambulatory electrocardiogram was used to assess the HRV. Differences in PSQI score, PSG and HRV parameters between the two groups were compared; partial correlation analysis was used to explore the correlations of HRV parameters with PSQI scores and PSG parameters; multivariate linear regression was used to analyze the independent influencing factors for HRV.Results:(1) Compared with the ICA group, the VB group exhibited significantly higher PSQI scores, spontaneous arousal index (SAI), ratio of time of stage 1 non-rapid eye movement sleep/total sleep time (T N1/T t), and apnea-hypopnea index (AHI), while significantly lower ratio of time of rapid eye movement sleep/total sleep time (T R/T t), spindle wave density in stage 2 non-rapid eye movement sleep (N2), lowest blood oxygen saturation, standard deviation of normal to normal intervals (SDNN) of all sinus beats, low-frequency power (LF), and high-frequency power (HF, P<0.05). (2) In both VB group and ICA group, SDNN was negatively correlated with PSQI score ( r=-0.461, P=0.020; r=-0.378, P=0.036). In the VB group, SDNN was negatively correlated with T N1/T t ( r=-0.467, P=0.019) and SAI ( r=-0.551, P=0.004), and positively correlated with ratio of time of stage 3 non-rapid eye movement sleep/total sleep time (T N3/T t, r=0.686, P<0.001) and spindle wave density in N2 ( r=0.518, P=0.008); LF and HF were negatively correlated with SAI ( r=-0.481, P=0.015; r=-0.564, P=0.003). In the ICA group, HF was negatively correlated with spindle wave density in N2 ( r=-0.369; P=0.041). (3) Multivariate linear regression results indicated that T N3/T t (β=0.348, P=0.018), SAI (β=-0.330, P=0.018), and spindle wave density in N2 (β=0.286, P=0.013) were independent influencing factors for Ln_SDNN in patients with moderate-to-severe stenosis or occlusion of the vertebrobasilar system. Conclusion:Patients with stenosis or occlusion of the vertebrobasilar system exhibit poorer subjective sleep quality, increased light sleep, heightened arousal, and reduced sleep stability compared with those with stenosis or occlusion of the internal carotid artery system, which may be caused by the imbalance of autonomic nerve function.

Objective To investigate the current situation of long-term care needs of the elderly with home-based disabil-ity in Beiliu City,and provide data support for the development of Internet plus care services in Beiliu City.Methods A ques-tionnaire survey method was used to design and distribute a survey questionnaire titled"Survey Questionnaire on Home Care Serv-ice Needs of Disabled Elderly People",to investigate the nursing service methods and home care needs of disabled elderly people in Beiliu City.Results Disabled elderly people mainly choose home-based nursing services,with a high demand for basic care,comfortable care,rehabilitation care,psychological care,and other aspects.Conclusion Home care is of great significance for improving the quality of life of disabled elderly people,and requires policy support such as medical insurance to promote the sup-ply of nursing services and meet the care needs of disabled elderly people.

DNA-encoded chemical library (DEL) links the power of amplifiable genetics and the non-self-replicating chemical phenotypes, generating a diverse chemical world. In analogy with the biological world, the DEL world can evolve by using a chemical central dogma, wherein DNA replicates using the PCR reactions to amplify the genetic codes, DNA sequencing transcripts the genetic information, and DNA-compatible synthesis translates into chemical phenotypes. Importantly, DNA-compatible synthesis is the key to expanding the DEL chemical space. Besides, the evolution-driven selection system pushes the chemicals to evolve under the selective pressure, i.e., desired selection strategies. In this perspective, we summarized recent advances in expanding DEL synthetic toolbox and panning strategies, which will shed light on the drug discovery harnessing in vitro evolution of chemicals via DEL.

CRISPR/Cas system, an adaptive immune system with clustered regularly interspaced short palindromic repeats, may interfere with exogenous nucleic acids and protect prokaryotes from external damages, is an effective gene editing and nucleic acid detection tools. The CRISPR/Cas system has been widely applied in virology and bacteriology; however, there is relatively less knowledge about the application of the CRISPR/Cas system in parasitic diseases. The review summarizes the mechanisms of action of the CRISPR/Cas system and provides a comprehensive overview of their application in gene editing and nucleic acid detection of parasitic diseases, so as to provide insights into future studies on parasitic diseases.