Objective To analyze the clinical, imaging, pathological characteristics and prognosis of renal mucinous tubular and spindle cell carcinoma (MTSCC), so as to provide preference for the differential diagnosis and clinical management of this disease.Methods A retrospective analysis was conducted on the clinical and follow-up data of 14 patients diagnosed with renal MTSCC at the Eastern Theater Command General Hospital during June 2021 and Aug.2025.Relevant literature was reviewed.Results Of the 14 patients, 10 were female (71.4%) and 4 were male (28.6%), with a mean age of 56.9 years. Pathological staging included pT1a in 6 cases, pT1b in 7 cases, and pT2b in 1 case.The median tumor diameter was 4.5 (range 2.0-11.0) cm.Twelve cases (85.7%) were asymptomatic and detected incidentally.On ultrasonography, most tumors exhibited well-defined margins and regular morphology (9/10, 90%) and appeared as homogeneous hypoechoic masses (7/10, 70%).All lesions demonstrated hypovascular features on imaging studies.Ten patients (71.4%) underwent laparoscopic radical nephrectomy, and 4(28.6%) received partial nephrectomy.Histologically, a distinctive architecture composed of tubular structures, spindle-shaped cells, and mucinous stroma was exhibited.Immunohistochemically, the positive rates of PAX-8, VIMENTIN and CK7 in tumor cells were 100% (13/13), 91.7% (11/12) and 84.6% (11/13), respectively.The Ki-67 proliferation index ranged from 2.0% to 40.0%.During a median follow-up of 25.0 (range4.9-0.0) months, no local recurrence or distant metastasis was observed.Conclusion Renal MTSCC is a rare subtype of renal cell carcinoma, typically lacking specific clinical symptoms and characterized by hypovascular imaging features.The tumor generally follows an indolent course with a favorable prognosis.For localized tumors, partial nephrectomy should be the primary consideration.For cases with high-risk pathological features such as sarcomatoid changes, due attention should be paid to the potential invasiveness and follow-up should be closely conducted.

Objective To comparatively evaluate the clinical efficacy of liposomal bupivacaine and ropiva-caine in transversus abdominis plane(TAP)block combined with intravenous patient-controlled analgesia(PCA)following cesarean section,and to explore the analgesic advantages of liposomal bupivacaine.Methods Eighty parturients scheduled for elective cesarean section were recruited and randomly allocated into two groups via a random number table:the liposomal bupivacaine group and the ropivacaine group.At the conclusion of the surgical procedure,both groups underwent ultrasound-guided bilateral TAP block.In the ropivacaine group,20 mL of 0.5%ropivacaine was administered per side.In the liposomal bupivacaine group,266 mg of liposomal bupivacaine was dissolved in 0.9%normal saline to a total volume of 40 mL,with 20 mL injected per side.The following parameters were compared between the two groups:Visual Analog Scale(VAS)scores at rest and during movement at various postop-erative time points,the overall scores of the 15-item Quality of Recovery(QoR-15)scale,postoperative opioid consumption,the time to first ambulation,the time to first flatus,and the incidence of adverse drug reactions such as nausea,vomiting,constipation,and pruritus.Results In comparison with the ropivacaine group,the liposomal bupivacaine group exhibited significantly lower Visual Analogue Scale(VAS)scores both at rest and during move-ment at 12 hours,24 hours,and 48 hours postoperatively(P<0.001).Significantly higher Quality of Recovery-15(QoR-15)scores were recorded in the liposomal bupivacaine group at 24 hours and during the 24-48-hour period postoperatively(P<0.001).The postoperative opioid consumption within 48 hours was markedly lower in the liposo-mal bupivacaine group(P<0.001).The time to first flatus was significantly shorter in the liposomal bupivacaine group(P<0.001).No significant differences were detected in the incidence of nausea,vomiting,or constipation between the two groups(P>0.05),and no cases of pruritus or other severe adverse reactions were observed.Conclusion Liposomal bupivacaine used for TAP block following cesarean section offers extended analgesia,reduces the need for opioids,enhances the quality of postoperative recovery,promotes gastrointestinal motility,and demonstrates excellent safety.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective The aim of this study is to discuss the causal relationship between periodontal disease(PD)and prostate cancer(PCa).Methods A two-sample bidirectional Mendelian randomization(MR)analysis based on publicly statistical data from genome-wide association studies(GWAS)was conducted.MR Egger,weighted medium,simple mode and weighted mode were supplemented,while inverse variance weighted analysis(IVW)was the main method of analysis.Heterogeneity testing,pleiotropy testing and leave-one-out testing were used to assess the sensitivity and stabili-ty.Results The results of MR analysis showed that PD had no significant impact on the occurrence of PCa:East Asian(IVW,PD:OR=1.07,P=0.48);European(IVW,PD:OR=1.00,P=0.37,periodontitis:OR=1.03,P=0.14,chronic gingivitis:OR=0.99,P=0.37,chronic periodontitis:OR=1.03,P=0.22).The reverse MR analysis also did not show a causal relationship between PCa and PD:East Asian(IVW,PD:OR=0.97,P=0.22);European(IVW,PD:OR=0.84,P=0.44,periodontitis:OR=1.01,P=0.75,chronic gingivitis:OR=0.93,P=0.23,chronic periodontitis:OR=0.99,P=0.80).The results of other analysis were consistent with those of IVW analysis.Conclusions The results of our two-sample bidirectional MR analysis do not support a causal relationship between PD and PCa.

Objective:To examine the clinical features and genetic profiles of patients with thyroid peroxidase(TPO) gene mutations and provide diagnostic guidance for clinicians.Methods:A retrospective review of four patients with TPO mutations treated at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, from January 2014 to December 2023. Data on demographics, clinical manifestation, genotypes, treatment, and prognosis of these patients were analyzed.Results:Two males and two females, aged 13 to 27 years at diagnosis, presented with goiter as the initial symptom, with three cases menifesting during puberty. Laboratory findings showed mildly elevated or upper-limit-normal serum thyroid-stimulating hormone(TSH) levels, significantly increased free triiodothyronine/free thyroxine(FT 3/FT 4) ratios, and elevated thyroglobulin(TG) levels. Genetic testing revealed compound heterozygous pathogenic or likely pathogenic TPO mutations. Despite regular levothyroxine(L-T 4) therapy, goiter persisted. Three patients required thyroidectomy due to cosmetic or compressive symptoms, with pathology showing follicular hyperplasia. Conclusion:TPO mutations are characterized by adolescent-onset goiter, elevated FT 3/FT 4 ratios, and normal to high TSH. Genetic testing confirms the diagnosis. L-T 4 offers limited improvement, and surgery is often needed.

Objective To comparatively evaluate the clinical efficacy of liposomal bupivacaine and ropiva-caine in transversus abdominis plane(TAP)block combined with intravenous patient-controlled analgesia(PCA)following cesarean section,and to explore the analgesic advantages of liposomal bupivacaine.Methods Eighty parturients scheduled for elective cesarean section were recruited and randomly allocated into two groups via a random number table:the liposomal bupivacaine group and the ropivacaine group.At the conclusion of the surgical procedure,both groups underwent ultrasound-guided bilateral TAP block.In the ropivacaine group,20 mL of 0.5%ropivacaine was administered per side.In the liposomal bupivacaine group,266 mg of liposomal bupivacaine was dissolved in 0.9%normal saline to a total volume of 40 mL,with 20 mL injected per side.The following parameters were compared between the two groups:Visual Analog Scale(VAS)scores at rest and during movement at various postop-erative time points,the overall scores of the 15-item Quality of Recovery(QoR-15)scale,postoperative opioid consumption,the time to first ambulation,the time to first flatus,and the incidence of adverse drug reactions such as nausea,vomiting,constipation,and pruritus.Results In comparison with the ropivacaine group,the liposomal bupivacaine group exhibited significantly lower Visual Analogue Scale(VAS)scores both at rest and during move-ment at 12 hours,24 hours,and 48 hours postoperatively(P<0.001).Significantly higher Quality of Recovery-15(QoR-15)scores were recorded in the liposomal bupivacaine group at 24 hours and during the 24-48-hour period postoperatively(P<0.001).The postoperative opioid consumption within 48 hours was markedly lower in the liposo-mal bupivacaine group(P<0.001).The time to first flatus was significantly shorter in the liposomal bupivacaine group(P<0.001).No significant differences were detected in the incidence of nausea,vomiting,or constipation between the two groups(P>0.05),and no cases of pruritus or other severe adverse reactions were observed.Conclusion Liposomal bupivacaine used for TAP block following cesarean section offers extended analgesia,reduces the need for opioids,enhances the quality of postoperative recovery,promotes gastrointestinal motility,and demonstrates excellent safety.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective The aim of this study is to discuss the causal relationship between periodontal disease(PD)and prostate cancer(PCa).Methods A two-sample bidirectional Mendelian randomization(MR)analysis based on publicly statistical data from genome-wide association studies(GWAS)was conducted.MR Egger,weighted medium,simple mode and weighted mode were supplemented,while inverse variance weighted analysis(IVW)was the main method of analysis.Heterogeneity testing,pleiotropy testing and leave-one-out testing were used to assess the sensitivity and stabili-ty.Results The results of MR analysis showed that PD had no significant impact on the occurrence of PCa:East Asian(IVW,PD:OR=1.07,P=0.48);European(IVW,PD:OR=1.00,P=0.37,periodontitis:OR=1.03,P=0.14,chronic gingivitis:OR=0.99,P=0.37,chronic periodontitis:OR=1.03,P=0.22).The reverse MR analysis also did not show a causal relationship between PCa and PD:East Asian(IVW,PD:OR=0.97,P=0.22);European(IVW,PD:OR=0.84,P=0.44,periodontitis:OR=1.01,P=0.75,chronic gingivitis:OR=0.93,P=0.23,chronic periodontitis:OR=0.99,P=0.80).The results of other analysis were consistent with those of IVW analysis.Conclusions The results of our two-sample bidirectional MR analysis do not support a causal relationship between PD and PCa.

Objective:To examine the clinical features and genetic profiles of patients with thyroid peroxidase(TPO) gene mutations and provide diagnostic guidance for clinicians.Methods:A retrospective review of four patients with TPO mutations treated at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, from January 2014 to December 2023. Data on demographics, clinical manifestation, genotypes, treatment, and prognosis of these patients were analyzed.Results:Two males and two females, aged 13 to 27 years at diagnosis, presented with goiter as the initial symptom, with three cases menifesting during puberty. Laboratory findings showed mildly elevated or upper-limit-normal serum thyroid-stimulating hormone(TSH) levels, significantly increased free triiodothyronine/free thyroxine(FT 3/FT 4) ratios, and elevated thyroglobulin(TG) levels. Genetic testing revealed compound heterozygous pathogenic or likely pathogenic TPO mutations. Despite regular levothyroxine(L-T 4) therapy, goiter persisted. Three patients required thyroidectomy due to cosmetic or compressive symptoms, with pathology showing follicular hyperplasia. Conclusion:TPO mutations are characterized by adolescent-onset goiter, elevated FT 3/FT 4 ratios, and normal to high TSH. Genetic testing confirms the diagnosis. L-T 4 offers limited improvement, and surgery is often needed.

Objective::To conduct a hierarchical classification analysis of the nonreportable results of noninvasive prenatal testing in an attempt to reduce failure rates and provide pregnant women with accurate information to alleviate their anxiety.Methods::In this study, 30,039 singleton pregnancies who underwent noninvasive prenatal testing in a single center from May 2019 to April 2022 were collected, and 811 samples with initial noninvasive prenatal testing failure were retrospectively analyzed. Grouping was based on the reasons for initial test failure; tracking the noninvasive prenatal testing results and prenatal diagnosis results (if any) of the "z-scores in the gray area" group and analyzing the possible influencing factors of the "low fetal fraction" group in the pre-experimental and experimental period by using one-way analysis of variance, Mann-Whitney U test, and χ 2 test; and tracking the pregnancy outcomes of the test failures samples to analyze the risk of perinatal complications and adverse pregnancy outcomes of the different types of test failures. Results::None of the samples' initial inconclusive results because of z-scores in the gray area were found to have chromosomal aneuploidy. However, pregnancy complications ( P = 0.018) and a high likelihood of adverse pregnancy outcomes ( P = 0.048) may still occur. Maternal gestational age ( P < 0.001), body mass index ( P < 0.001), library concentration ( P < 0.001), and fetal gender ( P < 0.001) were considered to be the associated factors for the initial low fetal fraction results. This may be associated with pregnancy complications ( P < 0.001) and a high likelihood of adverse pregnancy outcomes ( P = 0.034). The body mass index ( P = 0.015) and time between draws ( P = 0.001) were associated with the second test’s success. The incidence of low fetal fraction samples was more frequent with blood collection tubes of the G type than with the K type ( P < 0.001). Conclusion::Initial inconclusive results because of z-scores in the gray area did not imply an increased risk of aneuploidy, but vigilance is needed for an increased risk of pregnancy complications and adverse pregnancy outcomes. Because of the low fetal fraction, the initial absence of results may be related to the assay method, as well as the effect of blood collection tubes and the need to be alert to the risk of pregnancy complications and adverse pregnancy outcomes.