[Molecular mechanism analysis of a family with hereditary coagulation F â ª deficiency caused by compound heterozygous mutations].

A 34 year old female patient was scheduled to undergo surgical resection due to a "breast nodule". Preoperative examination revealed an activated partial thromboplastin time (APTT) of 66.2 seconds, coagulation factor Ⅺ activity (FⅪ: C) of 2%, and FⅪ antigen (FⅪ: Ag) of 40.3%. The patient and family members showed no abnormal bleeding symptoms. Diagnosed as hereditary coagulation factor Ⅺ deficiency. Genetic testing revealed that the F11 gene had a heterozygous nonsense mutation in exon 10, c.1107C>A (p.Tyr351stop), and a heterozygous missense mutation in exon 13, c.1562A>G (p.Tyr503Cys). The father and son were p Heterozygous carriers of Tyr351stop mutation, while the mother and daughter are p Heterozygous carriers of Tyr503Cys mutations. The in vitro expression results showed that p The Tyr351stop mutation resulted in a significant decrease in the transcription level of F11 gene, while p The Tyr503Cys mutation has no effect on the transcription level and protein expression level of F11 gene, but it leads to a significant decrease in the level of FⅪ:C in the cell culture supernatant.

[COVID-19 in patients with Good syndrome: report of 4 cases and literature review].

Objective: To summarize the clinical characteristics of coronavirus disease 2019 (COVID-19) in patients with Good's syndrome. Methods: We included all cases of COVID-19 in patients with Good's syndrome in the Second Xiangya Hospital of Central South University from January 1, 2023 to August 31, 2023. In addition to our cases, we searched the published literature in Wanfang database and PubMed database using the keywords "Good's syndrome" and "COVID-19". The clinical characteristics, treatment and outcome of the patients were summarized and analyzed. Results: A total of four patients with Good's syndrome complicated by COVID-19 were identified in our hospital, all of them were male, and the days of hospitalization were 17, 23, 7, and 13 days, respectively. Databases were searched for a total of six patients with Good's syndrome complicated by COVID-19, including three females and three males, all foreign patients, with hospitalization days of 12, 22, 13, 25, 21, and 34 days respectively. All ten patients met the diagnostic criteria for severe or critical COVID-19, and three(all middle-aged males) of them died, two from sepsis and one from respiratory failure. They were. Conclusion: COVID-19 in patients with Good's syndrome are prone to develop severe or critical disease and are more likely to be infected with multiple pathogens. Timely immunoglobulin supplementation is the key to treatment.

[New progress in the first-line treatment of advanced hepatocellular carcinoma].

Hepatocellular carcinoma is a kind of cancer with a strong invasion, a high incidence rate and mortality, and a poor prognosis. At the time of diagnosis, most patients are already in the advanced stages of a tumor and have lost the chance for radical surgical treatment. Advanced hepatocellular carcinoma treatment has a gradual transition from systemic chemotherapy to targeted therapy, immunotherapy, and combination therapy, especially immune checkpoint inhibitor-based immunotherapy combination therapy, such as combination with bevacizumab monoclonal antibodies and other drugs, or combination with TACE, HAIC, radiotherapy, ablation, and other treatment methods. Combination therapy has significant synergistic effects and thus has already become a future treatment trend for hepatocellular carcinoma. An immunotherapy-based combination therapy plan will run through the whole process of systemic therapy, which is expected to bring better survival benefits to patients with hepatocellular carcinoma. This article reviews the latest research progress in aspects of the first-line treatment of advanced hepatocellular carcinoma.

[Ultrasonographic features of retinal pigment epithelial adenoma].

Objective: To investigate the ultrasonographic features of retinal pigment epithelium (RPE) adenoma. Methods: It was a retrospective case series study. The clinical clata of 15 patients (15 eyes) with pathologically confirmed RPE adenoma after local resection of intraocular tumor was collected at Beijing Tongren Hospital, Capital Medical University from November 2013 to October 2019. The general conditions of the patients and the location, size, shape, internal echo features of the lesions in the ocular ultrasound sonogram were analyzed, and the blood flow in the lesions was checked by color Doppler flow imaging (CDFI). Results: Of all the patients included in the study, 7 were male and 8 were female. Their age ranged from 25 to 58 years, with a mean age of (45.7±10.2) years. The most common symptom was vision loss or blurred vision (11 cases). Other symptoms included dark shadows or obscuration in front of the eyes (3 cases) and no symptoms (1 case). A history of previous ocular trauma was present in one case, and the rest of the patients had no history of ocular trauma.The location of tumor growth is scattered. The ultrasonographic features were as follows: the average maximum basal diameter was (8.07±2.75) mm and the average height was (4.02±1.81) mm; the ultrasonographic features mostly demonstrated abruptly elevated dome-shaped echo (6 cases); the lesion edge was not smooth, the internal echo was medium or low, and there could be hollow features (2 cases), with no choroidal depression; and the blood flow signal could be seen in the CDFI lesion, which could lead to retinal detachment and vitreous opacification. Conclusion: The ultrasound imaging features of RPE adenomas mostly demonstrate abruptly elevated dome-shaped echo, unsmooth lesion edge, with no choroidal depression, which may provide valuable evidence for clinical diagnosis and differentiation.

[Phenotype and genotype analyses of two pedigrees with inherited fibrinogen deficiency].

Objective: To analyze the phenotype and genotype of two pedigrees with inherited fibrinogen (Fg) deficiency caused by two heterozygous mutations. We also preliminarily probed the molecular pathogenesis. Methods: The prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and plasma fibrinogen activity (Fg∶C) of all family members (nine people across three generations and three people across two generations) were measured by the clotting method. Fibrinogen antigen (Fg:Ag) was measured by immunoturbidimetry. Direct DNA sequencing was performed to analyze all exons, flanking sequences, and mutated sites of FGA, FGB, and FGG for all members. Thrombin-catalyzed fibrinogen polymerization was performed. ClustalX 2.1 software was used to analyze the conservatism of the mutated sites. MutationTaster, PolyPhen-2, PROVEAN, SIFT, and LRT online bioinformatics software were applied to predict pathogenicity. Swiss PDB Viewer 4.0.1 was used to analyze the changes in protein spatial structure and molecular forces before and after mutation. Results: The Fg∶C of two probands decreased (1.28 g/L and 0.98 g/L, respectively). The Fg∶Ag of proband 1 was in the normal range of 2.20 g/L, while it was decreased to 1.01 g/L in proband 2. Through genetic analysis, we identified a heterozygous missense mutation (c.293C>A; p.BßAla98Asp) in exon 2 of proband 1 and a heterozygous nonsense mutation (c.1418C>G; p.BßSer473*) in exon 8 of proband 2. The conservatism analysis revealed that Ala98 and Ser473 presented different conservative states among homologous species. Online bioinformatics software predicted that p.BßAla98Asp and p.BßSer473* were pathogenic. Protein models demonstrated that the p.BßAla98Asp mutation influenced hydrogen bonds between amino acids, and the p.BßSer473* mutation resulted in protein truncation. Conclusion: The dysfibrinogenemia of proband 1 and the hypofibrinogenemia of proband 2 appeared to be related to the p.BßAla98Asp heterozygous missense mutation and the p.BßSer473* heterozygous nonsense mutation, respectively. This is the first ever report of these mutations.

[Preliminary exploration of the metabolic profile and metabolic pathways in newly diagnosed multiple myeloma].

Objective: To explore the metabolite profile and metabolic pathways of newly diagnosed multiple myeloma (MM). Methods: Gas chromatography-mass spectrometry (GC-MS) was employed for the high-throughput detection and identification of serum samples from 55 patients with MM and 37 healthy controls matched for age and sex from 2016 to 2017 collected at the First Affiliated Hospital of Soochow University. The relative standard deviation (RSD) of quality control (QC) samples was employed to validate the reproducibility of GC-MS approach. The differential metabolites between patients with MM and healthy controls were detected by partial least squares discrimination analysis (PLS-DA), and t-test with false discovery rate (FDR) correction. Metabolomics pathway analysis (MetPA) was employed to construct metabolic pathways. Results: There were 55 MM patients, including 34 males and 21 females. The median age was 60 years old (42-73 years old). There were 30 cases of IgG type, 9 cases of IgA type, 1 case of IgM type, 2 cases of non-secreted type, 1 case of double clone type and 12 cases of light chain type, including 3 cases of kappa light chain type and 9 cases of lambda light chain type. The result of QC sample test showed that the proportion of compounds with the RSD of the relative content of metabolites < 15% was 70.21% obtained by the reproducibility of GC-MS experimental data, which implied that the experimental data were reliable. A total of 17 metabolites were screened differently with the healthy control group, including myristic acid, hydroxyproline, cysteine, palmitic acid, L-leucine, stearic acid, methionine, phenylalanine, glycerin, serine, isoleucine, tyrosine, valine, citric acid, inositol, threonine, and oxalic acid (VIP>1, P<0.05). Metabolic pathway analysis suggested that metabolic disorders in MM patients comprised mainly phenylalanine metabolism, glyoxylic acid and dicarboxylic acid metabolism, phosphoinositide metabolism, cysteine and methionine metabolism, glycerolipid metabolism, glycine, serine, and threonine metabolism. Conclusion: Compared with normal people, patients with newly diagnosed MM have obvious differences in metabolic profiles and metabolic pathways.

Honey combined with silver ion dressing in complicated chronic wound of the scalp: a case report.

OBJECTIVE: Scalp wound healing is a complex process. Nonhealing wounds can become chronic wounds, which increase the trauma and economic burden on a patient and may even cause death in severe cases. Thus, it can be difficult to find an effective treatment for chronic wounds of the scalp. CASE PRESENTATION: We present a case of a 13-year-old female patient with a chronic wound caused by a scalp incision infection 3 months after two operations for craniotomy for arachnoid cyst resection and cystic lesion-cisterna magna drainage. After repeated dressing changes and two debridement operations, the incision had still not healed during the following year. The wound finally healed after 6 months of dressing changes by combining honey with silver ion dressings, and the incision had not re-ruptured after 10 months of follow-up. CONCLUSIONS: Honey combined with silver may be an effective method for the treatment of chronic scalp wounds.

[Clinicopathological features of colorectal amphicrine carcinoma].

Objective: To investigate the clinicopathological, immunophenotypic and molecular features of colorectal amphicrine carcinoma (AC). Methods: Eight cases of colorectal AC were collected at the Nanjing Drum Tower Hospital and Nanjing First Hospital, Nanjing, China from 2013 to 2020. The histopathological, immunohistochemical and molecular features were analyzed. The relevant literature was reviewed. Results: There were 6 males and 2 females, with an average age of 56 years (range 28-80 years). The tumor sites were as follows: 4 cases in sigmoid colon, 3 cases in rectum, and 1 case in transverse colon. Microscopically, there were three different patterns in the tumors, including nests with collagen hyperplasia, sheets of cells with scant stroma, and glandular or cribriform growth of goblet- or signet ring-like cells. The tumor cells generally had abundant cytoplasm with abundant mucin or eosinophilic granules. The nuclei were oval or irregular with fine chromatin and inconspicuous nucleoli. Mitotic figures were common. Neuroendocrine granules and mucin granules could be identified clearly under electron microscope. All cases showed frequent perineural and lymphovascular invasions, lymphatic metastasis, and advanced stage. Regarding immunohistochemical and specific stains, the tumor cells expressed more than two neuroendocrine markers, particularly CD56 and synaptophysin which were diffusely positive in 7 of the 8 cases. They also showed intracellular mucin in the amphicrine components which was positive for D-PAS. KRAS G12C or NRAS Q61 gene mutations were found in 2 patients. Among the six cases with complete follow-up, four of them died of the disease within three years of the diagnoses, while two were alive without known disease progression. Conclusions: Colorectal AC is a rare, distinct entity with both epithelial and neuroendocrine differentiation. It mainly occurs in the sigmoid colon and rectum. It typically has aggressive clinical courses, dismal prognosis and characteristic histological features and immunophenotype, which highlight the importance of recognizing this entity for clinicians and pathologists.

Abnormal keratin expression pattern in prurigo nodularis epidermis.

Background: Prurigo nodularis (PN) is a highly pruritic, chronic dermatosis and difficult to treat. PN lesions are characterized by existence of many hyperkeratotic, erosive papules and nodules. However, the pathogenesis of PN still remains unelucidated. Aim: To clarify the keratin role in the epidermis hyperproliferation, the keratin expression pattern in the PN lesional skin. Methods: In this study, we enrolled 24 patients with PN and 9 healthy control volunteers. K1/K10, K5/K14, K6/K16/K17 expression pattern were investigated by using immunohistochemical staining. Results: The lesional skin consists of the thickened spinous layers, in which active cell division was found. K5/K14 were upregulated in PN lesional epidermis, the staining signal localized in the basal layer and lower suprabasal layers. Hyperproliferation-associated K6 was found in all layers of epidermal lesional skin, especially in the spinous layers. In contrast, K16 was only detected in the basal and lower suprabasal layers, K17 was observed in the basal and spinous layers. Terminal differential keratins K1/K10 were upregulated, detected in the pan-epidermis, but spared in the basal and low suprabasal layers. Conclusion: The keratinocytes enter an alternative differentiation pathway, which are responsible for the activated keratinocyte phenotype, abnormal keratins expression potentially contributes to the keratinocytes proliferation, subsequently lead to increased lesional skin epidermis thickness, hyperkeratiosis and alteration of skin barrier properties.

[Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families].

Objective: To investigate the molecular pathogenesis and clinical features of unrelated 12 patients with inherited coagulation protein C (PC) deficiency in Chinese population. Methods: The PC activity (PC:A) and PC antigen (PC:Ag) were detected by chromogenic substrate and enzyme linked immunosorbent assay, respectively. The nine exons and flanking sequences of the protein C (PROC) gene were amplified by polymerase chain reaction with direct sequencing, and the suspected mutations were validated by reverse sequencing (clone sequencing for deletion mutations) . Results: The PC:A of the 12 probands decreased significantly, ranging from 18% to 55%, and the PC:Ag of the 10 probands decreased significantly. Eleven mutations were found, out of which four mutations [c.383G>A (p.Gly128Asp) , c.997G>A (p.Ala291Thr) , c.1318C>T (p.Arg398Cys) , and c.532G>C (p.Leu278Pro) ] were discovered for the first time. Six mutations were in the serine protease domain, four mutations were located in epidermal growth factor (EGF) -like domains, and one mutation was located in activation peptide. There were two deletion mutations (p.Met364Trp fsX15 and p.Lys192del) , and the rest were missense mutations. Mutations p.Phe181Val and p.Arg189Trp were identified in three unrelated families. All mutations may be inherited, and consanguineous marriages were reported in two families. Among the probands, nine cases had venous thrombosis, two cases had poor pregnancy manifestations, and one case had purpura. Conclusion: Patients with PC deficiency caused by PROC gene defects are prone to venous thrombosis, especially when there are other thrombotic factors present at the same time.

Local anesthesia with sedation and general anesthesia for the treatment of chronic subdural hematoma: a systematic review and meta-analysis.

OBJECTIVE: Drilling and drainage is the main treatment for chronic subdural hematoma (cSDH). However, anesthesia methods also have an important effect on patients' postoperative outcomes. The clinical effect of drainage of cSDH under local anesthesia with sedation (LAS) and general anesthesia (GA) was systematically evaluated. MATERIALS AND METHODS: A literature study was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines for studies that compare LAS and GA for cSDH. The following treatment outcomes were compared between LAS and GA: total duration of surgery, postoperative complications, mortality, recurrence rate, and hospital length of stay (LOS). RESULTS: Four papers (n = 391, LAS: 196, GA: 195) met the inclusion criteria. Although there was no statistically significant difference between the two groups in mortality (OR: 0.47, 95% CI: 0.06-3.84, p = 0.48; p = 0.2, I2 = 39%), recurrence rate (OR: 0.82, 95% CI: 0.33-2.04, p = 0.66; p = 0.69, I2 = 0%), LOS (ratio of means: 0.86, 95% CI: 0.71-1.05, p = 0.14; p = 0.02, I2 = 75%). The total duration of surgery (MD: -26.71 min, 95% CI: -37.29 to -16.13, p < 0.00001; p = 0.65, I2 = 0%) was significantly shorter and the number of postoperative complications was significantly lower in the LAS group compared with the GA group (OR: 0.25, 95% CI: 0.13-0.50, p < 0.0001; p= 0.62, I2 = 0%). CONCLUSIONS: A systematic review and meta-analysis of the existing literature showed that LAS reduces the total duration of surgery and postoperative complications compared to GA. No significant difference in mortality, recurrence rate, and LOS was observed between the two groups.

[Effects of different surface treatments on the bonding strength between the lithium disilicate glass ceramic and resin cements].

Objective: To investigate the effects of different surface treatments protocol on the bonding strength between lithium disilicate glass ceramic and resin cements. Methods: Ceramic specimens of 15 mm×13 mm×3 mm were used to evaluate the effects of different surface treatments of hydrofluoric acid etching and silane coupling in current research. Firstly, the standard lithium ceramic specimens were divided into 8 groups (n=16), and were etched by 4.5% hydrofluoric acid for 0, 10, 20, 30, 40, 60, 120 and180 s. Then specimens in each group was further divided into two sub-groups. In one sub-group specimens were coated with coupling agents and in the other were not. Shear bonding strength (SBS) and failure mode were tested and analyzed. The surface morphologies of hydrofluoric acid-etched ceramic specimens were observed by the scanning electron microscopy (SEM). Secondly, after being etched by 4.5% hydrofluoric acid for 30 s, the lithium ceramic specimens were coated with coupling agents at different temperatures: room temperature (12 ℃) for 60 s, 60 ℃ hot air for 60 s and 100 ℃ hot air for 60 s (n=8). SBS and fracture mode were tested and analyzed. The infrared spectrum analysis was used to characterize the coupled surfaces of the ceramic samples. Results: The maximum SBS values were obtained after the specimens were etched for 30 s. The silane coupled group showed a higher SBS value [(25.91±4.30) MPa, P<0.05] than the no-silane-coupled group [(20.27±4.92) MPa]. SBS decreased with extended etching time (>30 s) and the SEM photos showed over-etching morphologies. The 60 ℃ hot air treatment resulted in the maximum SBS value [(28.70±5.32) MPa] than that of the room temperature [(20.08±3.64) MPa] or 100 ℃ hot air [(25.64±4.86) MPa, P<0.05]. And the cohesive failure mode was found in 60 ℃ hot air treatment group. The infrared spectroscopy analysis showed the highest amount of silicon oxide bond in the 60 ℃ hot air treatment group. Conclusions: In this study, for this product, the optimum etching time of 4.5% hydrofluoric acid was 30 s. Furthermore, an ideal SBS value could be obtained when the silane coupling agents were applied additionally. SBS could be increased substantially when the 30 s-etched-ceramic product was coated with silane coupling agents at 60 ℃ hot air for 60 s.

[Application of metagenomic next-generation sequencing technology in pathogen detection in patients with burns and patients with acute or chronic wounds].

Objective: To explore the value of using metagenomic next-generation sequencing (mNGS) technology to detect pathogens in patients with burns and patients with acute or chronic wounds. Methods: A retrospective observational study was conducted. From March 2019 to June 2020, 11 patients with burns and patients with acute or chronic wounds (including 10 males and 1 female, aged 23 to 85 years) in the Fourth Medical Center of PLA General Hospital met the inclusion criteria and were recruited. A total of 23 specimens were collected, including 6 whole blood specimens, 1 skin tissue specimen, 1 drained pus specimen, and 15 wound secretion swab specimens. Each specimen was divided into two parts, which were subjected for pathogen detection using microbial culture method and mNGS method, respectively. The number and types of pathogens detected by the 2 methods and the relative abundance detected by the mNGS method were recorded, and the consistency of the two methods were compared. Data were statistically analyzed with paired Wilcoxon rank sum test. Results: With the microbial culture method, no pathogen was detected in 5 of the 23 specimens, while 35 pathogens were detected in the remaining 18 specimens, belonging to 9 species of bacteria and 2 species of fungi. Five specimens had one pathogen while 9 specimens had 2 pathogens and 4 specimens had 3 pathogens detected in each specimen. With the mNGS method, no pathogen was detected in one of the 23 specimens, while 75 pathogens were detected in the remaining 22 specimens, belonging to 28 species of bacteria, 3 species of fungi, and 3 species of viruses. Eight specimens had one pathogen, 5 specimens had 2 pathogens, 2 specimens had 3 pathogens, 3 specimens had 4 pathogens, 2 specimens had 6 pathogens, and 1 specimen had 7 pathogens, and 1 specimen had 20 pathogens detected in each specimen. The number of pathogens detected in each specimen by microbial culture method was 2 (1, 2) types, which was significantly less than 2 (1, 4) types by mNGS method (Z=3.359, P<0.01). In 5 specimens, no bacteria were detected by microbial culture method but mNGS method detected bacteria in 2 specimens and virus in 2 different specimens. The mNGS method detected two or more types of bacteria in 13 specimens, the relative abundance of bacteria with the 1st relative abundance ranking ranged from 28.8% to 95.9% in each specimen. Of the 23 specimens detected by two detection methods, 7 specimens (30.4%) showed identical detection results, 5 specimens (21.7%) showed totally different detection results, and 11 specimens (47.8%) had partially consistent detection results. Conclusions: Compared with the traditional microbial culture method, the mNGS method has higher detection sensitivity and stronger capacity to detect pathogens, and can determine the relative abundance of pathogens in mixed infections. As a supplement to the culture method, the mNGS method is expected to play an important role in the diagnosis of infectious pathogens in burns and acute or chronic wounds.

[Effect of LncRNA HOTAIR on the proliferation, apoptosis and drug resistance of Wilms tumor cells through Wnt/ß-catenin signaling pathway].

Objective: To investigate the effect of long non-coding RNA HOTAIR (LncRNA HOTAIR) on the proliferation, apoptosis and drug resistance of Wilms tumor cells and its molecular mechanism. Methods: Collected nephroblastoma tissues and normal tumor side tissues in 32 children with renal syblastoma surgical treatment at Zhengzhou University Children's Hospital from 2015 to 2019. Real-time quantitative reverse transcription polymerase chain reaction, (qRT-PCR)was used to detect the expression of HOTAIR in Wilms tumor tissues and adjacent tissues. Small interfering RNA technology was used to delete the expression of HOTAIR in Wilms tumor cell SK-NEP-1. Cell counting kit-8 (CCK-8)was used to detect cell proliferation after transfection. Flow cytometry and terminal deoxynucleotidyl transferase mediated dUTP nick-end labeling (TUNEL) staining to detect the apoptosis. Western blot was used to detect the expression of Wnt/ß-catenin signaling pathway related proteins.CCK-8 was used to detect the proliferation inhibition of cells treated with different concentrations of cisplatin after transfection. Results: Compared with adjacent tissues, HOTAIR was highly expressed in Wilms tumor tissues (P<0.05). The expression levels of Wnt, ß-catenin, Cyclin D1, c-myc in the control group were (0.89±0.08), (0.94±0.10), (0.72±0.06), (1.10±0.11), and (1.06±0.11), (0.92±0.08), (0.66±0.07), (1.25±0.11) of the si-RNA group, while (0.54±0.05), (0.41±0.05), (0.25±0.03), (0.56±0.06) of the si-HOTAIR group. The expression levels of these protein were significantly down-regulated in the si-HOTAIR group when compared with the control group and the si-RNA group (P<0.05). The absorbance (A) values of SK-NEP-1 cells in the si-HOTAIR group at 24, 48 and 72 hours after transfection were (0.31±0.02), (0.37±0.04), (0.69±0.07), significantly lower than (0.49±0.05), (0.78±0.08), (1.22±0.14) in the control group and (0.57±0.06), (0.68±0.07), (0.94±0.09) in the si-RNA group (P<0.05). The apoptosis rate in the si-HOTAIR group was (13.81±1.25)%, significantly higher than (6.54±0.72)% in the control group and (4.35±0.40)% in the si-RNA group (P<0.05). The cell positive rate of TUNEL cells in the si-HOTAIR group was (35.14±3.50)%, significantly higher than (20.16±2.18)% in the control group and (21.09±2.35)% in the si-RNA group (P<0.05). The median inhibitory concentration (IC(50)) of the si-HOTAIR group was (62.48±5.97) µmol/L, significantly lower than (88.27±9.05) µmol/L of the control group and (92.50±9.11) µmol/L of the si-RNA group (P<0.05). Conclusions: Suppression of LncRNA HOTAIR can inhibit the proliferation of Wilms tumor cells, promote cell apoptosis, decrease cell resistance to cisplatin. The mechanism may be related to the inhibition of Wnt/ß-catenin signaling pathway activation.

[Association between parental education level and left ventricular hypertrophy in childhood].

Objective: To examine the relationship between parental education level and left ventricular hypertrophy (LVH) in children. Methods: The data comes from the baseline survey of the Huantai Childhood Cardiovascular Health Cohort Study (HCCH) conducted in Huantai County, Zibo City, Shandong Province. A convenient cluster sampling method was used to select a primary school in Huantai County, Zibo City, Shandong Province as a survey point. A cross-sectional survey was conducted from November 2017 to January 2018. A total of 1 316 children aged 6-11 years with complete data were included. LVH was defined as left ventricular mass index ≥ sex-and age-specific 90th percentile values of this population. Education levels of both parents were divided into junior high school or lower, high school, university or higher, respectively. Logistic regression models were used to analyze the association between parental education level and LVH in children. Results: The age of 1 316 participants was (8.9±1.5) years old. Among them, there were 703 boys (53.4%).After adjusting for gender, age, intake of vegetables and fruits, intake of carbonated drinks, physical activity, sleep time, screen time, overweight or obesity, and occasional hypertension, the logistic regression model results show that compared with those children whose parents' education level is junior high school or below, paternal or maternal education level of college or higher was associated with odds of LVH (father: OR=0.53, 95%CI: 0.33-0.87; mother: OR=0.52, 95%CI: 0.32-0.87; father/mother: OR=0.54,95%CI: 0.32-0.91). Conclusion: Parental education level is inversely associated with LVH in childhood. The probability of LVH in childhood decreases with the increase of parental education levels.

[A homozygous variant in a consanguineous pedigree with inherited protein S deficiency].

Objective: To observe the clinical feature of familiar hereditary protein S deficiency, and to explore the related gene mutation. Methods: The blood samples were obtained from the proband and the family memebers(3 generations,6 persons). PROS1 gene of the proband and the family members was analyzed. The 15 exons and flanking sequence of PROS1 gene were analyzed by PCR and DNA sequencing. Results: Five out of 6 family members were diagnosed as having hereditary protein S deficiency. The proband suffered from pulmonary embolism. The others had no obvious thrombotic event. The gene sequencing revealed that the proband carried a c.-168C>T homozygous variant in the promoter of exon 1. His parents, brother and son all carried c.-168C>T heterozygosis variant at the same position. The gene of his wife was a wild type. Conclusion: A gene variant (c.-168C>T) of PROS1 was discovered in this Chinese family. Gene variant of PROS1 may result in protein S deficiency. Patients with protein S deficiency may suffer from vein thrombosis and(or) pulmonary embolism.