[Phenotypic and genotypic analysis of a pedigree affected with hereditary protein C deficiency].

OBJECTIVE: To analyze the phenotype and genetic variant in a pedigree affected with inherited protein C (PC) deficiency. METHODS: The proband and her family members (7 individuals from 3 generations) were tested for plasma protein C activity (PC:A), protein C antigen (PC:Ag) content and other coagulation indicators. All of the 9 exons and flanking sequences of the proband's PROC gene were amplified by PCR and sequenced. Suspected variants were verified by reverse sequencing of the proband and her family members. Bioinformatic software was used to analyze the pathogenicity and conservation of the variant site. Swiss-PdbViewer was used to analyze the three-dimensional model and the interaction with the mutant amino acid. RESULTS: The PC:A and PC:Ag of the proband, her grandmother, father and elder brother were decreased to 55%, 52%, 48%, 51% and 53%, 55%, 50%, 56%, respectively. Genetic analysis showed that the four individuals have all carried heterozygous c.1318C>T (p.Arg398Cys) missense mutation in exon 9 of the PROC gene. The score of MutationTaster was 0.991, PROVEAN was -3.72, and FATHMM was -2.49, all predicted it to be a harmful mutation. Phylogenetic analysis also showed that Arg398 was weakly conservative among homologous species. Protein model analysis showed that, in the wild type, Arg398 can form a hydrogen bond with Glu341 and Lys395 respectively, when it was mutated to Cys398, the hydrogen bond with Glu341 disappears and an additional hydrogen bond was formed with Lys395, which has changed the spatial structure of the protein. CONCLUSION: The heterozygous missense mutation c.1318C>T (p.Arg398Cys) of the PROC gene probably underlay the decreased PC:A and PC:Ag in this pedigree.

Dynamic associations between temporal behavior changes caused by the COVID-19 pandemic and subjective assessments of policymaking: A case study in Japan.

To design effective policies against COVID-19, there is a need for more evidence-based research. However, associations between actual policies and temporal behavior changes have remained underexplored. To fill this important research gap, a nationwide retrospective life-oriented panel survey on individuals' behavior changes from April to September 2020 was implemented in Japan. Reliability of information sources, risk perceptions, and attitudes toward policymaking were also investigated. Valid data were collected from 2643 respondents residing in different parts of the country. Risks were reported about general infections and public transport use. Attitudes toward policymaking were mainly about policymaking capacity and PASS-LASTING based policy measures. A dynamic structural equation model (DSEM) was developed to quantify dynamic associations between individuals' behavior changes over time and subjective assessments (i.e., attitudes) of policymaking. Survey results revealed that behavior changes are mostly characterized by avoidance behaviors. Modeling estimation results showed a statistically-significant sequential cause-effect relationship between accumulated behavior changes in the past, subjective factors, and the most recent behavior changes. The most recent behavior changes are mostly affected by accumulated behavior changes in the past. Effects of subjective assessments of policymaking on the most recent behavior changes are significant but moderate. Among attitudes toward policymaking, attitudes toward policymaking capacity are more influential than willingness to follow PASS-LASTING based policy measures. High risks of using public transport are found to significantly influence the most recent behavior changes, together with other risk perception factors. Insights into effective COVID-19 policymaking are summarized.

Effects of transport-related COVID-19 policy measures: A case study of six developed countries.

This study attempts to provide scientifically-sound evidence for designing more effective COVID-19 policies in the transport and public health sectors by comparing 418 policy measures (244 are transport measures) taken in different months of 2020 in Australia, Canada, Japan, New Zealand, the UK, and the US. The effectiveness of each policy is measured using nine indicators of infections and mobilities corresponding to three periods (i.e., one week, two weeks, and one month) before and after policy implementation. All policy measures are categorized based on the PASS approach (P: prepare-protect-provide; A: avoid-adjust; S: shift-share; S: substitute-stop). First, policy effectiveness is compared between policies, between countries, and over time. Second, a dynamic Bayesian multilevel generalized structural equation model is developed to represent dynamic cause-effect relationships between policymaking, its influencing factors and its consequences, within a unified research framework. Third, major policy measures in the six countries are compared. Finally, findings for policymakers are summarized and extensively discussed.

Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. We aimed to provide the characteristics of G6PD deficiency and G6PD gene variant distribution in a large Chinese newborn screening population. We investigated the prevalence of G6PD in China from 2013 to 2017. Then, we examined G6PD activity and G6PD gene in representative Chinese birth cohort to explore the distribution of G6PD gene variant in 2016. We then performed multicolor melting curve analysis to classify G6PD gene variants in 10,357 neonates with activity-confirmed G6PD deficiency, and DNA Sanger sequencing for G6PD coding exons if hot site variants were not found. The screened population, organizations, and provinces of G6PD deficiency were increased from 2013 to 2017 in China. The top five frequency of G6PD gene variants were c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, and c.871G>A and varied in different provinces, with regional and ethnic features, and four pathogenic variant sites (c.152C>T, c.290A>T, c.697G>C, and c.1285A>G) were first reported. G6PD deficiency mainly occurs in South China, and the frequency of G6PD gene variant varies in different regions and ethnicities.

Analysis of Phenotype and Genotypein an Inherited Coagulation Factor VII Deficiency Pedigree.

BACKGROUND: To identify potential mutations and analyze the phenotype in an inherited factor VII (FVII) deficiency pedigree. METHODS: Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FVII activity (FVII:C), FVII antigen (FVII:Ag) and other coagulant parameters of the proband and family members were measured. Calibrated automated thrombin generation measurements were used to detect coagulation status. All the exons, exonintron boundaries and 5', 3' untranslated sequences of the F7 gene in the proband and other family members were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing. The detected mutations were confirmed by sequencing the other strand and analyzed by PIC software. RESULTS: The PT in the proband was prolonged and further study showed that the FVII:C and FVII:Ag were below the normal range, 3% and 38%, respectively. Double heterozygous mutations in the proband were identified: an A to G mutation at position 11,459 in exon 8, resulting in a p.Lys341Glu substitution, and a 2bp deletion (nt 27 del CT) mutation in exon 1a, leading to a frameshift and the creation of a premature stop codon. Both endogenous thrombin potential (ETP) and peak height in the proband were declined. Her father, brother, daughter, son, and niece were heterozygous for the nt 27 del CT mutation, while her mother, little brother, little niece, and little nephew were heterozygous for the Lys341Glu mutation, and their ETP and peak height obtained more than half normal ETP and peak height, respectively. Model analysis indicated that the Lys341Glu mutation will interrupt the electrovalent bond between 341Lys and 289Asp. CONCLUSIONS: Compound heterozygous mutations (p.Lys341Glu and nt27 del CT) which were responsible for the bleeding tendency were found in a pedigree of inherited FVII deficiency. The Lys341Glu mutation is firstly reported and nt27 del CT may be one of the mutational spots in Chinese population.

[Phenotypic and genetic analysis of a pedigree affected with hereditary FV deficiency due to a novel deletional variant of F5 gene].

OBJECTIVE: To analyze the phenotype and F5 gene variant in a pedigree affected with hereditary coagulation factor V (FV) deficiency. METHODS: All of the exons, flanking sequences, and 5' and 3' untranslated regions of the F5 gene were subjected to PCR and direct sequencing. Suspected variant sites were confirmed by clone sequencing. Influence of the variants was predicted by using software including ClustalX and Mutation Taster. RESULTS: The prothrombin time (PT) and activated partial thromboplastin time (APTT) of the proband were prolonged to 20.3 s and 59.2 s, respectively, while FV activity (FV:C) and FV antigen (FV:Ag) were reduced by 13% and 17%, respectively. The FV:C and FV:Ag of his father, sister and daughter were decreased to 35%, 37%, 29% and 42%, 46%, 35%, respectively. The proband was found to carry a heterozygous c.2851delT variant in exon 13 of the F5 gene, which caused a frameshift and resulted in a truncated protein (p.Ser923LeufsX8). In addition, a heterozygous c.1538G to A (p.Arg485Lys) variant was found in exon 10. The father, sister and daughter of the proband all carried the p.Ser923LeufsX8 variant, while his mother and son carried the heterozygous p.Arg485Lys polymorphism. His younger brother and wife were of the wild type. Bioinformatic analysis showed that p.Ser923 was highly conserved across various species. Mutation Taster scored 1.00 for the p.Ser923LeufsX8 variant, and the result has predicted a corresponding disease. CONCLUSION: A heterozygous deletional mutation c.2851delT in exon 13 of the F5 gene and a heterozygous c.1538G to A polymorphism harbored by the proband may be associated with the decreased FV level in this pedigree.

Diagnostic Error of a Patient with Combined Inherited Factor VII and Factor X Deficiency due to Accidental Ingestion of a Diphacinone Rodenticide.

BACKGROUND: To explore the characteristics of laboratory examination and confirm the diagnosis of a patient with combined inherited FVII and FX deficiency after he ingested diphacinone rodenticide accidentally. METHODS: The coagulant parameter screening tests and coagulation factor activities were tested many times in the patient due to accidental ingestion of a diphacinone rodenticide. After the patient was treated for more than one year, gene analysis of correlated coagulation factors was analyzed in the patient and other family members by DNA direct sequencing. 106 persons were selected as controls from routine health examinations. RESULTS: After the patient was admitted to hospital, routine coagulation screening tests revealed the prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT) and low levels of vitamin K-dependent coagulation factors (FII, FVII, FIX, FX) activity, which was 102.4 seconds, 88.5 seconds, 7%, 3%, 8%, and 2%, respectively. During more than one year of treatment, the value of PT and APTT still showed significantly prolonged activity and FVII and FX activity levels were about 5%. While FII and FIX activity levels were in the normal range after 12 weeks of treatment. Two homozygous mutations, g.11267C>T of F7 gene resulting in the substitution Arg277Cys and g.28139G>T of F10 gene leading to the substitution Val384Phe, were identified in the patient. The patient's parents and sister was heterozygous for Arg277Cys and Val384Phe mutations. FVII and FX antigen levels in the patient were 7% and 30%, respectively. CONCLUSIONS: There were many similarities in the characteristics of laboratory examination between combined inherited FVII and FX deficiency and acquired vitamin K deficiency. The best way to identify them was gene analysis.

Molecular Characterization of a Novel Missense Mutation (Asp538Asn) in a Chinese Patient with Factor XII Deficiency.

BACKGROUND: Congenital factor XII (FXH) deficiency is an autosomal recessive disorder whose genetic basis has been described in a relatively small number of cases. METHODS: Recently, we studied a Chinese family in which the proband had obviously prolonged activated partial thromboplastin time (APTT) associated with low functional and antigen FXII levels, 5% and 6.8%, respectively. To investigate the molecular defects in this FXII-deficient patient, we performed FXII mutation screening and invitro expression studies. RESULTS: Sequence analysis of the FXII gene revealed a heterozygous G>A transition at nucleotide 8597 in exon 13, causing a novel Asp538Asn mutation in the catalytic domain. CONCLUSIONS: From the results above, we reasoned that this mutation must confer a cross-reacting material (CRM) negative phenotype. Additional expression studies in COS-7 cells showed that the antigen level of mutant FXII (FXII-Asp538Asn) was lower compared to the wild type in culture media, whereas the corresponding level of FXII antigen in cell lysates was equivalent roughly to that of the wild type. These findings indicated that the Asp538Asn mutation results in intracellular degradation of the mutant FXII and causes FXII deficiency.

[Analysis of molecular pathogenesis and clinical phenotypes in 10 probands with inherited fibrinogen deficiency].

OBJECTIVE: To explore the molecular pathogenesis and clinical phenotypes in 10 probands with inherited fibrinogen (Fg) deficiency. METHODS: The diagnosis of hereditary Fg deficiency was validated by prothrombin time (PT), thrombin time (TT), Fg activity (Fg:C) and Fg antigen (Fg:Ag) in plasma. All of the exons and their flanking sequences of the Fg gene were analyzed by direct sequencing. Detected mutations were confirmed by reverse sequencing. RESULTS: The ranges of Fg:C and Fg:Ag in the 10 probands were 0.52-0.91 g/L and 0.62-2.98 g/L, respectively. Five of the probands had type I disorders, and 5 had type II disorders. Seven point mutations were identified, among which 6 have located in the D region. γThr277Arg, γAsp316His, γTrp208Leu and Lys232Thr were novel mutations, and αArg19Ser was first reported in Chinese. Four probands had the same mutation site (γArg275). As to the clinical manifestation, probands with type I disorders were asymptomatic or with mild or medium symptoms, while those belonged to type II disorders had moderate or serious symptoms. Two probands have carried an Arg275Cys mutation but had different clinical manifestations. CONCLUSION: Mutations of the Fg gene seem to aggregate to the D region of FGG in our region, and Arg275 is a common mutation. However, no correlation has been found between the mutation site and clinical manifestations.

[Congenital hypofibrinogenemia associated with a novel mutation in FGG gene].

OBJECTIVE: To identify the genetic mutation underlying congenital hypofibrinogenamia in a Chinese pedigree. METHODS: Standard coagulation tests including the prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), plasminogen activity (PLG:A), D-Dimer (DD) and fibrin degradation products (FDP) were tested with fresh plasma using a STA-R analyzer. The activity of fibrinogen (Fg:C) and fibrinogen antigen (Fg:Ag) were measured respectively with the Clauss method and immunoturbidimetry. All exons and exon-intron boundaries of the fibrinogen Aα-, Bß-, and γ-chain genes (FGA, FGB and FGG) were amplified by PCR followed by direct sequencing. Suspected mutation was confirmed by reverse sequencing and analyzed with a Swiss-PdbViewer. RESULTS: The PT level in the proband was normal, while the APTT and TT were slightly prolonged. The functional and antigen fibrinogen levels were both significantly reduced (0.91 g/L and 0.95 g/L, respectively). Similar abnormalities were also found in her father, elder sister, son and niece. The coagulant parameters of her mother were all within the normal range. Genetic analysis has reveled a heterozygous A>C change at nucleotide 5864 in exon 7 of γ gene in the proband, predicting a novel Lys232Thr mutation. The proband's father, elder sister, son and niece were all carriers of the same mutation. Protein model analysis indicated that the Lys232Thr mutation did not disrupt the native network of hydrogen bonds, but has changed the mutual electrostatic forces, resulting in increased instability of the protein. CONCLUSION: The heterozygous Lys232Thr mutation identified in the FGG gene probably underlies the hypofibrinogenemia in this pedigree.

Long non-coding RNA H19 mediates the miR-29b/transforming growth factor-ß1/Drosophila mothers against decapentaplegic 3 signalling pathway to promote bladder fibrosis in diabetic rats.

PURPOSE: Diabetic bladder fibrosis is a common comorbidity. Altered expression of some long non-coding RNAs (LncRNAs) has been associated with bladder fibrosis. LncRNA H19 has been reported to regulate bladder cancer through miR-29b. However, the action mechanism of LncRNA H19 in bladder fibrosis is unclear. METHODS: In vitro, human bladder smooth muscle cells (HBSMCs) were cultured with transforming growth factor-ß1 (TGF-ß1) for 48 h to construct cell model of bladder fibrosis. HBSMCs were then transfected with si-LncRNA H19, si-NC, miR-29b-mimic, mimic-NC, or miR-29b-inhibitor. In vivo, Sprague-Dawley (SD) rats were given a high-sucrose-high-fat (HSHF) diet for 4 weeks and injected with streptozotocin (STZ, 50 mg/kg) to induce bladder fibrosis model in diabetic rats, followed by injection of lentiviral particles knocking down LncRNA H19 expression, empty vector, or miR-29b-inhibitor, respectively. RESULTS: LncRNA H19 was up-regulated in TGF-ß1-induced HBSMC fibrosis and STZ-induced diabetic rat bladder fibrosis, whereas miR-29b was down-regulated. si-LncRNA H19 reduced blood glucose levels and improved histopathological damage of bladder tissue in rats. In addition, si-LncRNA H19 or miR-29b-mimic increased the expression of E-cadherin, but decreased the expression of N-cadherin, vimentin, fibronectin (FN) in bladder tissues, and HBSMCs. si-LncRNA H19 reduced TGF-ß1/p-drosophila mothers against decapentaplegic 3 (Smad3) protein in HBSMCs and in rat bladder tissues, while miR-29b-inhibitor reversed the effect of si-LncRNA H19. CONCLUSION: This study indicated that LncRNA H19 may inhibit bladder fibrosis in diabetic rats by targeting miR-29b via the TGF-ß1/Smad3 signalling pathway.

Dependence analysis of social contact behaviors under the impacts of COVID-19 based on a copula approach.

The spread of the SARS-CoV-2 virus during the COVID-19 pandemic was intricately linked with contact between people, but many of the policies designed to encourage safe contact behaviors were unsuccessful. One reason was that the determinants of social contact decisions have not been thoroughly investigated using scientifically sound methodologies. To fill this gap, a unique survey was designed which sought data on social contact behaviors and their determinants. Second, a copula-based behavior model was developed to jointly represent the choices of contact modes (including direct and indirect contact) and the number of contacted persons. The survey was conducted in six countries from March to May 2021 and collected valid responses from >7000 people. A comparison of five key copula functions found that the Frank function outperformed the others. The results of a Frank-based model showed that indirect contacts were significantly and positively associated with the number of contacted persons. Then the influence of various determinants, including activity attributes (e.g., frequency and travel distance), protective measures, safety level of activity settings, and psychological factors related to activity participation and risk perception, were extensively analyzed. In particular, the various heterogeneous influences in different social contact settings were examined. The findings provide scientific evidence for policymakers to promote safe social distancing, even for the post-pandemic era.

Spontaneous Prostatic Hemorrhage in a COVID-19 Patient: A Case Report.

Hematuria occurring in patients with acute kidney injury caused by Corona Virus Disease 2019 (COVID-19) infection has been reported. However, cases of macroscopic hematuria in COVID-19 patients leading to a severe decrease in hemoglobin have not been reported heretofore. Herein, we describe the case of a 56-year-old male patient who suffered from spontaneous prostatic hemorrhage caused by thrombocytopenia and coagulation dysfunction associated with COVID-19 infection, which manifested as macroscopic hematuria, bladder blood clot tamponade and severe hemoglobin decline. Prostatic hemorrhage was diagnosed by endoscopy. There was no recurrence of macroscopic hematuria after undergoing transurethral prostate electrocoagulation for hemostasis, infusing plasma to supplement coagulation factors and taking finasteride. One month after the bleeding event, the patient's blood routine reexamination revealed that the platelet count returned to the normal value and coagulation was normal.

Rectal prolapse in a 30-year-old bladder stone male patient: A case report.

BACKGROUND: Rectal prolapse occurs most commonly in children and middle-aged and elderly women and is relatively rare in young men and is occasionally caused by bladder stones. Severe rectal prolapse, bilateral hydronephrosis, and renal insufficiency caused by bladder stones are rare in a 30-year-old man. CASE SUMMARY: We report the case of a 30-year-old male patient with cerebral palsy who presented with a large bladder stone that resulted in severe rectal prolapse, bilateral hydronephrosis, and renal insufficiency. Following a definitive diagnosis, the bladder stone was successfully removed, and his kidney function returned to normal. We assessed the patient's nutritional status and stone composition and concluded that the main cause was malnutrition. CONCLUSION: Rectal prolapse is a rare clinical manifestation of bladder stones, particularly in young adults. Cerebral palsy patients are a vulnerable group in society because of their intellectual disabilities and communicative impairments. Accordingly, besides taking care of their daily diet, abnormal signs in their bodies should receive the doctors' attention in a timely manner.

Transurethral 1470 nm diode laser vaporization versus plasma kinetic enucleation of the prostate for the treatment of benign prostatic hyperplasia: A retrospective study.

To compare the efficacy, safety, and complications of transurethral 1470 nm diode laser vaporization and plasma kinetic enucleation of prostate (PKEP) in benign prostatic hyperplasia treatment. A retrospective matched-paired comparison of patients treated using transurethral 1470 nm diode laser vaporization (n = 40) or PKEP (n = 40) was conducted. Baseline characteristics, preoperative data, and postoperative outcomes at the 24-month follow-up of the patients were recorded. The present study found no significant preoperative differences between the 2 treatment groups. Compared with PKEP, 1470 nm diode laser vaporization had a significantly shorter operation time and less intraoperative blood loss, but there were no marked differences between the 2 groups in terms of postoperative bladder irrigation time, catheterization time, and hospital stay. Moreover, at the 24-month follow-up postoperatively, there were no marked differences in the International Prostatic Symptomatic Score (IPSS), quality of life (QOL), maximum urinary flow rate (Qmax), and post-void residual urine volume (PVR) between the 2 groups. IPSS, QOL, Qmax, and PVR had improved significantly compared to preoperative assessment at 24-month follow-up in both groups and there was no significant difference in the variation of IPSS, QOL, Qmax and PVR before and after the operation. Furthermore, complications were comparable between the 2 treatment groups. Transurethral 1470 nm diode laser vaporization and PKEP are effective strategies in the treatment of benign prostatic hyperplasia. However, 1470 nm diode laser vaporization offers advantages over PKEP in terms of shortening operation time and reducing intraoperative bleeding. Nonetheless, further research with a larger number of patients and long-term follow-up is necessary to confirm and validate these findings.

Prevalence of overactive bladder in Chinese women: A systematic review and meta-analysis.

BACKGROUND: Overactive bladder (OAB) is a significant public health issue that adversely affects the quality of life of patients and imposes a significant socioeconomic burden, with varying prevalence rates across study populations in Chinese women. A systematic review and meta-analysis were conducted to estimate the prevalence of OAB in Chinese women. METHODS: Relevant published articles on the prevalence of OAB in Chinese women were searched through July 21, 2022, using PubMed, EMbase, The Cochrane Library, China Biology Medicine (CBM), China National Knowledge Infrastructure (CNKI), WanFang Data, and VIP databases. After the independent screening of articles, data extraction, and quality assessment of included studies by two investigators, a meta-analysis was performed using Stata 16.0 software, and the prevalence was determined using a random-effects model. To identify potential sources of heterogeneity, subgroup analyses were conducted with subgroup categories including age, Body Mass Index (BMI), region, and survey year. Publication bias was assessed by visually examining the funnel plot and Egger's test. RESULTS: Twenty studies were included in this meta-analysis. The results of the random-effects model indicated that the prevalence of OAB in Chinese women was 14% (95% Confidence Interval: 9%-18%). The prevalence increased significantly in the past decade (from 8% in pre-2006 to 18% in 2016-2021). A prevalence (18%) was observed among women aged 31-40 compared with other age groups. The BMI range of 24-27.9 (18%) was higher than the other groups. Additionally, the prevalence of this BMI range was comparatively higher in North China and Southwest China (21%) than in Central China and East China. In addition, publication bias was observed. CONCLUSIONS: OAB incidence has increased in Chinese women over the last two decades, affecting more than 20% of women aged 31-40 years and above. With the increasing prevalence of OAB, greater emphasis has been placed on implementing preventative and control measures.

Analysis of cerebral infarction caused by dysplasminogenemia in three pedigrees.

Background and aims: Dysplasminogenemia is a rare heritable disease caused by plasminogen (PLG) gene defects resulting in hypercoagulability. In this report we describe three notable cases of cerebral infarction (CI) complicated with dysplasminogenemia in young patients. Methods: Coagulation indices were examined on STAGO STA-R-MAX analyzer. PLG: A was analyzed using a chromogenic substrate-based approach using a chromogenic substrate method. All nineteen exons of PLG gene and their 5'and 3'flanking regions were amplified by Polymerase chain reaction (PCR). Suspected mutation was confirmed by reverse sequencing. Results: PLG activity (PLG:A) in proband 1 and 3 of his tested family members, proband 2 and 2 of his tested family members, and proband 3 and her father were all reduced to roughly 50% of normal levels. Sequencing led to the identification of a heterozygous c.1858G>A missense mutation in exon 15 of the PLG gene in these three patients and affected family members. Conclusion: We conclude that the observed reduction in PLG:A was the result of this p.Ala620Thr missense mutation in the PLG gene. The CI incidence in these probands may be attributable to the inhibition of normal fibrinolytic activity as a consequence of this heterozygous mutation.

A Rare Case of Spontaneous Bladder Rupture in a Herpes Zoster Patient.

Herpes zoster infection in the sacral area accounts for a considerable number of all herpes zoster cases, and cases of acute urinary retention and defecation disorders caused by herpes zoster infection in the sacral area have been reported. However, no clinical case of spontaneous bladder rupture has been reported. In this report, we describe a 77-year-old male patient with severe complications of spontaneous bladder rupture caused by herpes zoster-associated urinary retention. The patient regained complete bladder function after undergoing surgery to repair the bladder and treatment with antiviral drugs.

Progesterone Induces Apoptosis and Steroidogenesis in Porcine Placental Trophoblasts.

Placentation and placental steroidogenesis are important for pregnancy and maternal−fetal health. As pregnancy progresses, the main site of progesterone (P4) synthesis changes from the corpus luteum to the placenta, in which placental trophoblasts are the main cell type for P4 synthesis. Therefore, this study investigated the effects of P4 on apoptosis and steroidogenesis in porcine placental trophoblasts and the underlying molecular mechanisms. Porcine placental trophoblasts were treated with different concentrations of P4 for 48 h in a serum-free medium in vitro. Cell number, steroidogenesis, and relevant gene and protein expression levels were detected. A high dose of P4 (10.0 µM) significantly increased P4 (p < 0.01), androstenedione (p < 0.05), testosterone (p < 0.05), and estradiol (p < 0.05) production in porcine placental trophoblasts compared with that in control cells, while a low dose of P4 (1 × 10−3 µΜ) had no marked impact on steroid production. The mRNA expression of apoptosis-related genes (CASP3, CASP8, and Bax) (p < 0.05) and steroidogenesis-related genes (CYP11A1, CYP19A1, and StAR) (p < 0.01) was upregulated, and the expression of HSD3B and HSD17B4 was inhibited (p < 0.05) in the porcine placental trophoblasts treated with high doses of P4. Low doses of P4 had a lighter effect on gene expression than high doses. The expression of apoptosis-related proteins CASP3 (p < 0.05), and Bax (p < 0.01) and steroidogenesis-related proteins CYP19A1 (p < 0.05) and StAR (p < 0.01) was raised, but the proliferation-related protein CCND2 (p < 0.01) was downregulated in the pTr cells treated with high dose of P4. In comparison, a low dose of P4 inhibited the expression of Bax, CYP11A1 (all p < 0.01), and CCND2 (p < 0.05), but the expression of CASP3 (p < 0.05) and StAR (p < 0.01) was upregulated. In summary, excessive P4 can induce the apoptosis of porcine placental trophoblasts and lead to abnormal steroidogenesis in the placenta and hormone imbalance.

N-Carbamylglutamate Improves Reproductive Performance and Alters Fecal Microbiota and Serum Metabolites of Primiparous Sows during Gestation after Fixed-Time Artificial Insemination.

N-carbamylglutamate (NCG) supplementation during gestation improves reproductive performance in sows after conventional artificial insemination. However, whether NCG can improve reproductive performance and change fecal microbiota and serum metabolite levels during pregnancy in sows after fixed-time artificial insemination (FTAI) remains unclear. Two hundred multiparous sows were assigned a diet from mating until farrowing: control (corn−soybean meal) or NCG supplementation (0.05% NCG). At days 30, 70, and 110 of gestation and after farrowing, maternal microbial diversity and serum metabolites were studied. Supplementation of NCG increased the number of piglets born alive and the litter weight (all p < 0.05) and altered the fetal microbial community during gestation. Some genera were particularly abundant at different time points during gestation and after farrowing, but none were commonly abundant across all four time points. Metabolic analysis revealed that NCG supplementation significantly increased the serum concentrations of NCG, ferulic acid, cinnamoylglycine, 3-phenyllactic acid, and gamma-glutamylglutamic acid in the NCG group compared with levels in the control group. Our results reveal that NCG supplementation during gestation improves reproductive performance in sows after FTAI, exerting both direct (increased serum NCG levels) and indirect effects (altered intestinal microbiome and serum metabolites) on sow reproduction and, ultimately, improving placental and fetal development.