OBJECTIVE: To explore the molecular cytogenetic characteristics of three fetuses with psu idic(Y)(q11.22) using a combination of multiple methods. METHODS: A total of 11 000 pregnant women who underwent prenatal diagnosis at the Prenatal Diagnosis Center of Taizhou City from January 2019 to October 2024 were selected as the study subjects. Chromosome karyotype analysis (G-banding) and copy number variation analysis based on next-generation sequencing (NGS) were performed on the amniotic fluid/cord blood samples of the 11 000 fetuses. For cases suspected of Y chromosome abnormalities, C-banding and/or fluorescence in situ hybridization (FISH) and AZF microdeletion testing were additionally conducted. This study has been reviewed and approved by the Medical Ethics Committee of Taizhou Hospital, Zhejiang Province (Ethics No. KL20240860). RESULTS: Among the 11,000 prenatal samples undergoing concurrent karyotype and copy number variation analysis, two fetuses with 45,X/46,X,psu idic(Y)(q11.22) mosaicism and one fetus with 46,X,psu idic(Y)(q11.22) were detected. FISH detection indicated that approximately 66.7% of the cells in fetus 2 exhibited a dicentric Y chromosome, and the metaphase karyotype supported the presence of a pseudodicentric chromosome. AZF testing revealed complete deletion of the AZFb+AZFc regions in fetus 2 and fetus 3. CONCLUSION Conventional G-banding karyotype analysis for psu idic(Y)(q11.22) is prone to misdiagnosis or missed diagnosis. The combined application of chromosome karyotype analysis (G+C banding), copy number variation analysis, and FISH detection in clinical practice can accurately diagnose fetuses with psu idic(Y).
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; DNA Copy Number Variations/genetics* ; Adult ; Chromosomes, Human, Y/genetics* ; Karyotyping ; In Situ Hybridization, Fluorescence ; Cytogenetic Analysis/methods* ; Fetus ; High-Throughput Nucleotide Sequencing ; Male

Objective To investigate the relationship between cyclin A2 (CCNA2) and the prognosis of colon cancer, and its possible mechanism from the perspective of immune infiltration. Methods We downloaded the transcriptome data of colon cancer patients from The Cancer Genome Atlas database. Clinicopathological feature analysis and survival analysis were performed based on the expression levels of CCNA2. A total of 75 specimens of colon cancer and normal tissues were collected, and the expression level of CCNA2 was analyzed using immunohistochemical methods. Multivariate analysis was conducted to explore its relationship with clinicopathological features. Gene Set Enrichment Analysis (GSEA) was used to assess the potential molecular functions of CCNA2 in colon cancer. CIBERSORT algorithm was applied to calculate the correlation between CCNA2 and immune-cell infiltration in colon cancer. Results Database and immunohistochemical analyses indicated that CCNA2 was expressed at a significantly higher level in colon cancer tissues than normal tissues (P<0.001). The overall survival, disease-specific survival, and progression-free interval were all longer in the group with high CCNA2 expression than the group with low expression (all P<0.05). In tumor tissues, the expression level of CCNA2 decreased with increased pathological and TNM stages (P<0.05). The expression level of CCNA2 in normal tissues was consistently lower than that in colon cancer tissues across all clinical stages (all P<0.001). GSEA suggested that Wnt/β-catenin, KRAS, and other signaling pathways were enriched when CCNA2 was lowly expressed. CIBERSORT analysis revealed an increase in the infiltration of immune cells such as regulatory T cells and macrophages M0 when CCNA2 expression was low. Conclusion CCNA2 is highly expressed in colon cancer and closely associated with grade of pathology and TNM stage. It may recruit regulatory T cells through the KRAS and Wnt/β-catenin pathways, thereby reducing immune-cell infiltration and promoting colon cancer progression, leading to poor prognosis.

Objective:To explore the molecular cytogenetic characteristics of three fetuses with psu idic(Y)(q11.22) using a combination of multiple methods.Methods:A total of 11 000 pregnant women who underwent prenatal diagnosis at the Prenatal Diagnosis Center of Taizhou City from January 2019 to October 2024 were selected as the study subjects. Chromosome karyotype analysis (G-banding) and copy number variation analysis based on next-generation sequencing (NGS) were performed on the amniotic fluid/cord blood samples of the 11 000 fetuses. For cases suspected of Y chromosome abnormalities, C-banding and/or fluorescence in situ hybridization (FISH) and AZF microdeletion testing were additionally conducted. This study has been reviewed and approved by the Medical Ethics Committee of Taizhou Hospital, Zhejiang Province (Ethics No. KL20240860). Results:① Among the 11, 000 prenatal samples undergoing concurrent karyotype and copy number variation analysis, two fetuses with 45, X/46, X, psu idic(Y)(q11.22) mosaicism and one fetus with 46, X, psu idic(Y)(q11.22) were detected. ② FISH detection indicated that approximately 66.7% of the cells in fetus 2 exhibited a dicentric Y chromosome, and the metaphase karyotype supported the presence of a pseudodicentric chromosome. ③ AZF testing revealed complete deletion of the AZFb+ AZFc regions in fetus 2 and fetus 3. Conclusion:Conventional G-banding karyotype analysis for psu idic(Y)(q11.22) is prone to misdiagnosis or missed diagnosis. The combined application of chromosome karyotype analysis (G+ C banding), copy number variation analysis, and FISH detection in clinical practice can accurately diagnose fetuses with psu idic(Y).

Objective:To explore the molecular cytogenetic characteristics of three fetuses with psu idic(Y)(q11.22) using a combination of multiple methods.Methods:A total of 11 000 pregnant women who underwent prenatal diagnosis at the Prenatal Diagnosis Center of Taizhou City from January 2019 to October 2024 were selected as the study subjects. Chromosome karyotype analysis (G-banding) and copy number variation analysis based on next-generation sequencing (NGS) were performed on the amniotic fluid/cord blood samples of the 11 000 fetuses. For cases suspected of Y chromosome abnormalities, C-banding and/or fluorescence in situ hybridization (FISH) and AZF microdeletion testing were additionally conducted. This study has been reviewed and approved by the Medical Ethics Committee of Taizhou Hospital, Zhejiang Province (Ethics No. KL20240860). Results:① Among the 11, 000 prenatal samples undergoing concurrent karyotype and copy number variation analysis, two fetuses with 45, X/46, X, psu idic(Y)(q11.22) mosaicism and one fetus with 46, X, psu idic(Y)(q11.22) were detected. ② FISH detection indicated that approximately 66.7% of the cells in fetus 2 exhibited a dicentric Y chromosome, and the metaphase karyotype supported the presence of a pseudodicentric chromosome. ③ AZF testing revealed complete deletion of the AZFb+ AZFc regions in fetus 2 and fetus 3. Conclusion:Conventional G-banding karyotype analysis for psu idic(Y)(q11.22) is prone to misdiagnosis or missed diagnosis. The combined application of chromosome karyotype analysis (G+ C banding), copy number variation analysis, and FISH detection in clinical practice can accurately diagnose fetuses with psu idic(Y).

Objective:To compare the chemical composition of decoction and granules of Sangju Decoction; To provide a method for quality evaluation of Sangju Decoction.Methods:HPLC was used to establish fingerprints, and a comprehensive comparative study was conducted on the traditional decoction and formula granules of Sangju Decoction from four aspects: chemical composition type, fingerprint similarity, chemical pattern recognition analysis, and representative index component content.Results:The fingerprint similarity of the 10 batches of traditional decoction was >0.988. 35 peaks were identified and 12 peaks were identified as common peaks (neochlorogenic acid for peak 7, chlorogenic acid for peak 10, cryptochlorogenic acid for peak 11, 1,3-dicaffeoylquinic acid for peak 13, rutin for peak 17, lenoside A for peak 19, lignan for peak 20, isochlorogenic acid B for peak 24, ammonium glycyrrhizate for peak 25). The fingerprint similarity of the formulation pellets was >0.983, and 29 characteristic peaks were identified. Compared with the traditional decoction, some batches of the granules lacked peaks 14, 26, 27, 30, 32 and 34, and clustering analysis (CA), principal component analysis (PCA), and orthogonal partial least squares discriminant analysis (OPLS-DA) could distinguish between the two. The contents of the 10 index components neochlorogenic acid, chlorogenic acid, cryptochlorogenic acid, 1,3-dicaffeoylquinic acid, forsythia ester glycoside A, grass glycosides, isochlorogenic acid B, 3,5-O-dicaffeoylquinic acid, forsythia glycosides, monkshood glycosides in the traditional soup were higher than that in the granules, and the contents of rutin and ammonium glycyrrhizate in the granules were higher than that in traditional decoction.Conclusions:The content and composition of traditional decoction and formula granules of Sangju Decoction are significantly different. The combination of fingerprinting and chemical pattern identification effectively can effectively evaluate the difference between traditional decoction and formula granules of Sangju Decoction, which can lay a foundation for the quality control and rational clinical application of formula granules of Sangju Decoction.

Objective To investigate the effect of trunk control on the biomechanical characteristics of lower limb movements during Asian squats(AS)and Western squats(WS)in young adults to provide empirical support for the application and promotion of deep squat training.Methods Twenty-four healthy young male collegiate students performed AS and WS with and without bar control,and their lower limb kinematic and kinetic characteristics were collected using an infrared light-point motion capture system and a three-dimensional(3D)dynamometer.The 3D angles of the lower limbs were obtained using Cortex-642.6.2 software,based on the calculation of Euler angles,and the 3D moments were obtained by applying the inverse dynamics method.The effects of trunk control and deep squatting posture on the lower limb kinematic characteristics were examined using a two-factor analysis of variance with a 2×2 repeated design.Results There was no significant interaction between trunk control and the deep squatting posture for either kinematic or kinetic parameters(P>0.05).The WS group had a large knee flexion angle,peak patellofemoral contact force,and ratio of peak hip and knee extension moments,and small ankle dorsiflexion and hip flexion angles(P<0.05).The deep squat with a bar had a large ankle dorsiflexion angle,peak patellofemoral contact force,and hip flexion angle as well as a small knee flexion angle and ratio of peak hip and knee extension moments(P<0.05).Conclusions WS is helpful for training hip extension muscle groups,whereas AS is helpful for training knee extension muscle strength.The peak patellofemoral joint contact force of the WS is significantly greater than that of the AS;therefore,it is recommended that patients with patellofemoral joint pain use the AS.A squat with a bar can compensate for the body's balance;thus,people with limited ankle dorsiflexion range of motion or anterior tibial muscle weakness may consider trunk control training,such as a deep squat with a bar.This may help improve lower limb stability during squats.

Purpose: Controversies persist regarding contraindications for nipple-sparing mastectomy (NSM). This study aimed to assess the accuracy of subareolar frozen section analysis and identify risk factors for nipple-areola complex (NAC) recurrence post NSM. Methods: Consecutive cases of primary invasive breast cancer undergoing NSM at our single center from January 2015 to December 2020 were retrospectively reviewed. Results: The nipples were retained in 126 patients (127 breasts), and the areola was retained with nipple excision for five breasts. Frozen section analysis demonstrated a sensitivity of 81.8% and specificity of 95.3%. The NAC recurrence rate was 4.3% over a median follow-up period of 48 (30–105) months. An atypical ductal hyperplasia (ADH) at the margin emerged as an independent factor for NAC recurrence in multivariate Cox regression analysis (hazard ratio, 25.464; 95% confidence interval, 1.841–352.145; p = 0.016). Kaplan-Meier survival analysis revealed no statistically significant reduction in overall survival rates (log-rank test, p = 0.660). Conclusion Frozen sections of subareolar tissue are reliable and re-excision may be necessary when ADH is detected at the nipple margin in NSM. The NAC recurrence rate was low, and the outcome was favorable following wide local excision.

Objective To analyze the influence of different backpack types and loads on kinematics and plantar pressure of college students during stair climbing, so as to provide references for choosing the appropriate backpack and carrying mode. Methods The Nokov infrared light point motion capture system and Podome plantar pressure system were used to analyze the differences in the range of motion ( ROM) of the trunk and lower limb joints, the kinematic parameters at the peak time, the peak pressure of each plantar partition, the contact time, the maximum pressure of the whole foot, the average pressure and the maximum contact area for 15 male college students during the support period of stair climbing. Results The 5% BW and 10% BW backpack loads reduced ROM of trunk rotation, increased ROM of ankle flexion/ extension and varus / valgus. The 10% BW backpack loads increased the peak pressure of the 1st and 3rd metatarsals bones and the maximum pressure of the whole foot ( P < 0. 05). Single-shoulder bag and handbag reduced ROM of trunk tilting and rotation, and increased ROM of ankle flexion and extension, hip flexion angle, peak pressure of foot arch and medial heel (P<0. 05). The double-shoulder bag loads increased peak pressure in the toe area (P<0. 05). Conclusions During walking on the stairs, the 5% BW and 10% BW backpack loads limited trunk rotation and increased ankle ROM. The 10% BW loads also increased the load in metatarsal area. The unilateral weight-bearing mode would make the trunk tilt to the unload side and rotate to the weight-bearing side. The pressure in toe area was higher when carrying double-shoulder bag, while single-shoulder bag and handbag mainly increased the pressure of arch foot and medial heel. It is suggested that college students choose symmetrical backpack scheme, and wisely allocate back weight to avoid the injury of foot area.

Objective:To retrospectively analyze clinical characteristics and treatment of pemphigus/bullous pemphigoid (BP) complicated by herpes simplex virus (HSV) infection.Methods:Inpatients with pemphigus/BP complicated by HSV infection were collected from Wuhan No.1 Hospital from 2016 to 2021, and their clinical characteristics, treatment and follow-up results were retrospectively analyzed.Results:Among the 8 patients with pemphigus/BP complicated by HSV infection, there were 2 males and 6 females, and their age was 50.6 ± 8.3 years. Five of them were diagnosed with pemphigus vulgaris (PV), 1 with pemphigus foliaceus (PF), and 2 with BP. Seven were infected with HSV-1, and 1 with HSV-2. All the 8 patients were given systemic glucocorticoids and immunosuppressive agents for the treatment of pemphigus or BP, and were admitted to the hospital due to resistance to the treatment. Seven patients presented with exacerbation or recurrence of primary lesions, and 1 presented with enlarged lesions all over the body. HSV infection-induced lesions were located on the trunk in 4 cases, on the oral mucosa in 4, on the scalp in 3, and on the face in 2; lesions mainly manifested as irregular erosions with blood crusts, and some centrally umbilicated pustules; 7 patients had obvious pain at the lesional sites. During HSV infection, anti-desmoglein 1 antibody levels decreased in all the 6 patients with pemphigus, and anti-desmoglein 3 antibody levels decreased in 4 of the 5 patients with pemphigus vulgaris; anti-BP180 antibody levels decreased in 1 patient with BP, but increased in the other one with BP. After antiviral therapy at adequate doses for adequate durations (7- to 14-day treatment with valacyclovir alone or in combination with ganciclovir), HSV infection was controlled, the autoimmune bullous skin disorder intensity scores decreased compared with those before the antiviral therapy, and pain was significantly relieved in all the patients. No dose adjustment of glucocorticoids or other immunosuppressive agents was made during antiviral therapy in all patients.Conclusion:HSV infection should be considered when patients with pemphigus/BP suffer from recurrence or exacerbation and poorly respond to conventional treatment; for patients with pemphigus/BP complicated by HSV infection, systemic antiviral therapy at adequate doses can be used to control the disease condition without modifying the conventional immunosuppressive regimen.

Objective:To summarize clinical manifestations and histopathological features of granular parakeratosis (GP) after exposure to benzalkonium chloride.Methods:A retrospective analysis was performed on 7 GP cases with a history of benzalkonium chloride exposure in the Department of Dermatology at Wuhan No.1 Hospital from April to August 2022. Data were collected on the general condition, skin lesion manifestations, pathological examination, treatment, and follow-up of the patients, and retrospectively analyzed.Results:The 7 adult patients with GP typically presented with erythema and brown scales in the intertriginous area, exhibiting an annular distribution pattern. All the 7 patients reported recent exposure to disinfectants containing benzalkonium chloride. A total of 10 skin biopsies were taken from the 7 patients. Histopathological examination showed characteristic hyperkeratosis and fine blue-gray parakeratotic granules in the stratum corneum. All skin lesions improved 1 month after cessation of exposure to benzalkonium chloride.Conclusion:GP has a distinct clinical pattern and histopathological manifestations, and a history of exposure to benzalkonium chloride can be helpful for the diagnosis of GP.