Publications by authors named "Jie-Wei Luo"

34 Publications

Splenic Artery Embolization and Splenectomy for Spontaneous Rupture of Splenic Hemangioma and Its Imaging Features.

Front Cardiovasc Med 2022 3;9:925711. Epub 2022 Jun 3.

Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, China.

Background: Spontaneous splenic rupture (SSR) is a rare, often life-threatening, acute abdominal injury that requires immediate diagnosis and early treatment. SSR is mainly treated surgically or conservatively. A few cases of interventional embolization for SSRs have been reported.

Case Presentation: A 30-year-old male patient complaining mainly of left upper abdominal pain underwent emergency abdominal computed tomography (CT) and showed enlargement of the spleen with a massive mixed-density shadow approximately 10.0 × 8.0 × 12.5 cm in size. The boundary was unclear and showed obvious progressive enhancement. Considering the intrasplenic tumor lesions with rupture and hemorrhage, the possibility of vascular tumors was high, with intraperitoneal blood and fluid accumulation. Digital subtraction angiography of the splenic arteriography and embolization of the ruptured splenic artery branches were performed. Postoperative hemoglobin progressively decreased, inflammatory indicators, such as white blood cell counts, procalcitonin (PCT), and C-reactive protein (CRP) were significantly increased, and 2 days after embolization, the patient developed severe hypoxemia, shock, pulmonary edema, and acute respiratory distress syndrome. CT re-examination 9 days after embolization showed reduced lesion absorption. After stabilization of the condition, splenectomy was performed, and postoperative platelet count increase, anticoagulant improvement, and discharge were observed. Postoperative pathological examination revealed extensive hemorrhage and necrosis, vascular tissue with abnormal hyperplasia in the surrounding area, vascular tissue in the bleeding area and outer wall (elastic fiber staining +), and local myofibroblast hyperplasia. Immunohistochemistry showed actin (SM +) and Ki67 (10% +).

Conclusion: SSR caused by splenic hemangioma is rare, and the choice between surgical treatment or splenic artery embolization remains dependent on the patient's hemodynamic stability and imaging findings.
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http://dx.doi.org/10.3389/fcvm.2022.925711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205459PMC
June 2022

Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.

Cell Death Dis 2022 Jun 2;13(6):518. Epub 2022 Jun 2.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, China.

X-linked hypophosphatemic rickets (XLH) is characterized by increased circulating fibroblast growth factor 23 (FGF23) concentration caused by PHEX (NM_000444.5) mutations. Renal tubular resorption of phosphate is impaired, resulting in rickets and impaired bone mineralization. By phenotypic-genetic linkage analysis, two PHEX pathogenic mutations were found in two XLH families: c.433 G > T, p.Glu145* in exon 4 and c.2245 T > C, p.Trp749Arg in exon 22. Immunofluorescence showed that the localization of p.Glu145* and p.Trp749Arg mutant and secretory PHEX (secPHEX) changed, with decreased expression. In a HEK293T cell model co-transfected with PHEX, secPHEX, and FGF23, wild-type PHEX, secPHEX, and FGF23 proteins were distributed in the cell membrane or endoplasmic reticulum, while the mutant was located in the nuclear membrane and cytoplasm. qPCR of p.Glu145* revealed decreased PHEX and secPHEX mRNA expression in cells, with no difference in mRNA expression of p.Trp749Arg. Both mutations decreased intracellular PHEX endopeptidase activity. Western blot analysis showed decrease in mutant and secPHEX protein expression and no FGF23 protein expression in single-transfected PHEX and secPHEX cells. In cells co-transfected with FGF23, PHEX and secPHEX mutation promoted FGF23 expression. Dual-luciferase reporter gene was used to detect the effect of PHEX on FGF23 promoter. The dual-luciferase reporter gene showed that after PHEX overexpression, the activity of mutant firefly luciferase was significantly higher than that of wild type. The regulatory mechanism between PHEX and FGF23 is still unclear, but we found that PHEX is a direct transcriptional inhibitor of FGF23 and affects the expression of FGF23. This study verified the pathogenicity of the two variants and revealed the possible regulatory mechanism between PHEX and FGF23.
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http://dx.doi.org/10.1038/s41419-022-04969-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9163062PMC
June 2022

Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by Variant.

Front Pediatr 2022 6;10:878172. Epub 2022 May 6.

Shengli Clinical Medical College, Fujian Provincial Hospital, Fujian Medical University, Fuzhou, China.

Background: Bruck syndrome (BS) is a rare autosomal recessive inherited osteogenesis imperfecta disease characterized by increased bone fragility and joint contracture. The pathogenic gene of type I BS is , whereas that of type II BS is . No significant difference has been found in the clinical phenotype between the two types of BS. In this study, we performed genetic analysis of a BS pedigree caused by variant and studied the corresponding cellular function.

Methods: Serum biochemistry, parathyroid hormone (PTH), 25-hydroxyvitamin D [25-(OH) D], osteocalcin, and 24-h urinary calcium levels of a family member with BS was assessed. The genes of the proband were analyzed by second-generation sequencing and exon capture techniques. Sanger sequencing was also performed for the suspected responsible variant of the family member. Wild- and variant-type lentivirus plasmids were constructed by gene cloning and transfected into HEK293T cells. Cell function was verified by real-time quantitative polymerase chain reaction, western blotting, and immunofluorescence detection.

Results: In this pedigree, the proband was found to have a homozygous variant c.1856G > A (p.Arg619His) in exon 17 of (NM_182943.3). His consanguineous parents and sisters were p.Arg619His heterozygous carriers. The mRNA expression of in the constructed p.Arg619His variant cells was significantly upregulated, while the expression of PLOD2 and collagen I protein in the cell lysate was significantly downregulated. Immunofluorescence revealed that the wild-type was mainly located in the cytoplasm, and the expression of the PLOD2 protein after c.1856G > A variant was significantly downregulated, with almost no expression, aligning with the western blot results. The serum sodium, potassium, calcium, phosphorus, magnesium, alkaline phosphatase, PTH, 25-(OH) D, osteocalcin, and 24 h urinary calcium levels of the proband, his parents, and sisters were normal.

Conclusion: Through gene and cell function analyses, Arg619His missense variant was preliminarily confirmed to cause BS by reducing protein expression.
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http://dx.doi.org/10.3389/fped.2022.878172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120662PMC
May 2022

A Primary Extraskeletal Osteosarcoma of the Spleen: Rare Case Report.

Front Oncol 2022 2;12:892943. Epub 2022 May 2.

Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, China.

Extraskeletal osteosarcoma is a rare malignant soft-tissue sarcoma that is difficult to diagnose. Surgery is a common treatment, although chemotherapy and radiotherapy are also used. Patients at risk of bleeding can undergo embolization combined with resection. The occurrence of primary splenic extraskeletal osteosarcoma in humans does not seem to have been reported in the literature. A 50-year-old woman who complained of pain in the left upper abdomen for 1 day was initially diagnosed with "splenic hemangioma with a high possibility of rupture and bleeding" and urgently underwent digital subtraction angiography, combined with splenic arteriography and embolization. Abdominal pain worsened 2 days postoperatively, with a hemoglobin level of 106.0 g/L. Consequently, emergency laparotomy combined with splenectomy was performed. The clinical and imaging features, pathological diagnosis, and embolization treatment of this case were analyzed retrospectively. CT of the upper abdomen revealed splenomegaly, an irregular low-density shadow in the spleen, and a flake-like calcification in the lateral margin of the left kidney. Nuclear MRI of the upper abdomen showed splenomegaly and a mass (approximately 8.4 cm × 5.7 cm × 6.3 cm) below the spleen with clear boundaries-this exhibited an uneven signal, which was slightly low in T1-weighted imaging (T1WI) and slightly high in T2-weighted imaging (T2WI). Several small cystic lesions or cystic cavities were observed in the mass, which exhibited a longer T2 signal. During the enhanced scan, the signal of the lesion showed progressive enhancement, and the enhancement range increased in the delayed phase scan, as well as a hematoma below the spleen capsule and calcification below the lesion (nodular T1WI/T2WI hypointense, approximately 3.3 cm × 3.6 cm). Postoperative biopsy pathology showed splenic soft tissue tumor: at low magnification, the multinucleated giant cells were scattered; at medium magnification, osteoclast-like multinucleated giant cells were observed; and at high magnification, lace- or grid-like tumor osteogenesis was detected. Immunohistochemistry showed that the expression of CD31, CD34, F8, s-100, desmin, SMA, and CD99 was negative, whereas the expression of β-catenin, BCL-2, SATB-2, and P16 was positive. CD68 and MDM-2 showed low expression, while 50% of the cells were positive for Ki-67 expression. No abnormal concentration of radioactivity was found on the bone scan with Tc-MDP after the operation, further ruling out the occurrence of other bone tumors. The patient was diagnosed with primary extraskeletal osteosarcoma. It is necessary for multidisciplinary teams to diagnose malignant extraskeletal osteosarcomas.
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http://dx.doi.org/10.3389/fonc.2022.892943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9108331PMC
May 2022

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation.

Front Cardiovasc Med 2022 26;9:887618. Epub 2022 Apr 26.

Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, China.

Sitosterolemia (OMIM ##210250), also known as phytosterolemia, is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette subfamily G member 5 () or member 8 () genes. This leads to abnormal functions of the transporter sterolin-1 protein encoded by G5 and sterolin-2 protein encoded by G8, respectively, which can hinder the formation of stable / heterodimers, decreasing its ability to transport sterols. As a result, phytosterols in tissue or plasma are significantly increased, leading to early onset atherosclerosis-related diseases and xanthelasma of tendons and skin. In this study, whole exome sequencing was performed on a Chinese Han proband with sitosterolemia to capture the target gene and screen for suspected pathogenic mutations. Sanger sequencing of the family members was performed to verify the relationship between family genetics and phenotypes. The structural and functional changes in the transporter sterolin-1 protein after the responsible mutation were predicted using bioinformatics analysis. A novel compound heterozygous mutation in the gene (NM_022436) was identified in a proband with sitosterolemia, one of which was inherited from the father: c.296T >G (p.M99R), and one from the mother: c.-76 C >T. SIFT, Polyphen2, and Mutation Taster software predicted that p.M99R may be the responsible variant and a novel variant. RNAFold software predicts that c.-76 C >T may affect the transcriptional information or the binding of RNA binding proteins by regulating the structure of RNA, and ultimately affect gene transcription or RNA stability and translation. Swiss model software predicts that the amino acid sequence around p.M99R is highly conserved, and p.M99R leads to instability of the tertiary structure of the / heterodimer. GPS 5.0 predicted that M99R affects the phosphorylation of nearby amino acid sequences, and DUET and VarSite software predicted that M99R affects the stability of sterolin-1 and cause disease. The p.M99R and c.-76 C >T mutations led to the formation of unstable heterodimers, which disturbed sterol absorption and excretion . The compound heterozygous variants c.296 T >G (p.m99r) and C.-76 C >T on exon 3 of in this family may be the molecular genetic basis of sitosterolemia.
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http://dx.doi.org/10.3389/fcvm.2022.887618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9086554PMC
April 2022

Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A.

Cardiol Res Pract 2022 28;2022:9716045. Epub 2022 Apr 28.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou 350001, China.

Background: Brugada syndrome is a hereditary cardiac disease associated with mutations in ion channel genes. The clinical features include ventricular fibrillation, syncope, and sudden cardiac death. A family with Brugada syndrome with sudden cardiac death was analyzed to locate the associated mutation in the gene.

Methods And Results: Three generations of a Han Chinese family with Brugada syndrome were recruited in the study; their clinical phenotype data were collected and DNA samples extracted from the peripheral blood. Next-generation sequencing was carried out in the proband, and candidate genes and mutations were screened using the full exon capture technique. The family members who participated in the survey were tested for possible mutations using Sanger sequencing. Six family members were diagnosed with Brugada syndrome, including four asymptomatic patients. A newly discovered heterozygous mutation in the proband was located in exon 25 of SCN5A (NM_000335.5) at c.4313dup(p.Trp1439ValfsTer32). Among the surviving family members, only those with a Brugada wave on their electrocardiogram carried the c.4313dup(p.Trp1439ValfsTer32) variant. Bioinformatics prediction revealed that the frameshift of the c.4313dup (p.Trp1439ValfsTer32) mutant led to a coding change of 32 amino acids, followed by a stop codon, resulting in a truncated protein product.

Conclusion: The newly discovered mutation site c.4313dup(p.Trp1439ValfsTer32) in exon 25 of SCN5A may be the molecular genetic basis of the family with Brugada syndrome.
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http://dx.doi.org/10.1155/2022/9716045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9072018PMC
April 2022

Retrospective Analysis of the Effect of Lidocaine Combined with Methylprednisolone on Pain Control After Uterine Artery Embolization.

Front Surg 2022 19;9:875484. Epub 2022 Apr 19.

Department of Shengli Clinical College, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, China.

Background: The analgesic effect produced by the intra-arterial injection of lidocaine in patients undergoing uterine artery embolization has been proven to be safe and effective. Nevertheless, a significant degree of pain is typically experienced after the operation, and pain management is crucial. Methylprednisolone, which provides an anti-inflammatory effect, is widely used in the treatment of several diseases. To date, methylprednisolone has not been used after uterine artery embolization.

Methods: A total of 131 patients with uterine leiomyoma were retrospectively enrolled. Forty-five patients (control group) were treated with embolized microspheres for bilateral uterine artery embolization. Fifty (study group) and 36 (lidocaine group) patients were administered lidocaine mixed with embolized microspheres during embolization, and in addition, the study group was administered methylprednisolone. Completed pain scales at different time points during surgery were obtained from patients undergoing uterine artery embolization. Efficacy against pain was evaluated by comparing the pain score, inflammatory index, and use of sufentanil within 24 h followed by a Kruskal-Wallis Test and a least significant difference post-hoc analysis.

Results: The postoperative pain scores at 1, 4, and 7 h after uterine artery embolization in the study group (3.08 ± 2.09, 2.46 ± 1.93, and 2.38 ± 1.85, respectively) were significantly lower than those in the control group (4.84 ± 2.36, 4.16 ± 1.87, and 3.56 ± 1.93, respectively) and the lidocaine group (3.50 ± 2.10, 3.30 ± 1.88, and 3.28 ± 1.89, respectively). At the first 24 h after embolization, the total usage of sufentanil in the study group (31.4 ± 4.16) was significantly lower than those in the control group (45.7 ± 6.51) and the lidocaine group (38.3 ± 6.25). At 1 and 4 h, the pain scores of the lidocaine group were significantly lower than those of the control group. In addition, at the first 24 h after embolization, the total usage of sufentanil in the lidocaine group was significantly lower than that in the control group.

Conclusion: Lidocaine in combination with methylprednisolone can significantly alleviate pain and reduce the usage of sufentanil after bilateral uterine artery embolization. Thus, methylprednisolone is a recommended addition to the therapeutic regimen after embolization.
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http://dx.doi.org/10.3389/fsurg.2022.875484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9063317PMC
April 2022

Rare Cases of Bronchial Aneurysm and Comparison of Interventional Embolization in the Treatment of True Bronchial Aneurysm and Pseudobronchial Aneurysm.

Front Cardiovasc Med 2022 9;9:856684. Epub 2022 Mar 9.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou, China.

Background: Bronchial artery aneurysm (BAA) is a rare disease. Rupture of BAA can lead to life-threatening hemoptysis, and once diagnosed, treatment is needed regardless of symptoms. Transcatheter artery embolization is the first choice of treatment because it is minimally invasive and effective. This study aimed to retrospectively compare the embolization treatment of a case of true BAA and that of a pseudobranchial aneurysm and explore the choice of embolization method for BAA with short neck or no neck.

Materials And Methods: Embolization treatment and imaging characteristics of one case of true BAA and one case of pseudobronchial aneurysm admitted to our hospital were analyzed retrospectively. Embolization methods and therapeutic effects of two cases of BAAs were compared.

Results: Case 1 was that of an intact true BAA inside the mediastinum located at the opening of the bronchial artery. The distal end of the aneurysm was embolized, and tumor cavity was occluded. No recurrence of BAA was found after the operation. Case 2 was that of a ruptured and hemorrhagic pseudobronchial aneurysm of the mediastinum. Coil embolization combined with covered stent graft exclusion of the thoracic aorta were performed, and the left bronchial artery and BAA were almost occluded. Nine months postoperatively, the mediastinal hematoma was almost completely absorbed.

Conclusion: Endovascular embolization has become the most commonly used for the treatment of BAA. Different methods should be selected according to the location and nature of the aneurysm.
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http://dx.doi.org/10.3389/fcvm.2022.856684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959610PMC
March 2022

Clinical outcomes of uterine artery embolization and experience of postoperative transvaginal fibroid expulsion: a retrospective analysis.

Arch Gynecol Obstet 2022 Feb 5. Epub 2022 Feb 5.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, China.

Purpose: To explore the efficacy of uterine artery embolization (UAE) in the treatment of uterine fibroid and share the experience of transvaginal fibroid expulsion (FE) after UAE.

Methods: We retrospectively analyzed the changes in uterine and fibroid volume in 152 patients with symptomatic uterine fibroid after UAE at Fujian Provincial Hospital and Fujian Longyan People Hospital from March 2014 to March 2020. After a 12-month follow-up, the improvement in postoperative clinical symptoms and the incidence of complications were evaluated. We also shared the clinical features and imaging findings of four patients with FE after UAE.

Results: All 152 patients successfully underwent UAE. After a 12-month follow-up, the postoperative volumes of the uterus and fibroid at 3, 6, and 12 months were significantly reduced or disappeared compared to those before surgery (P < 0.05). Clinical symptoms, such as menorrhagia, dysmenorrhea, prolonged menstrual period, anemia, increased leucorrhea, pelvic discomfort, and urinary tract compression, were significantly improved after UAE. Among the 152 patients, the incidences of postoperative fever, nausea, vomiting, lower abdominal pain, and increased vaginal secretion were 7.89%, 7.24%, 3.95%, 19.08%, and 4.61%, respectively. Additionally, there were six cases of FE, with an incidence of 3.95%. Three cases of fibroid specimens and pathological images of fibroid biopsy, which were expelled through the vagina, were also provided.

Conclusion: UAE is a satisfactory alternative surgical method for symptomatic uterine fibroid with definitive efficacy and high safety. However, it is necessary to guard against the occurrence of postoperative complications such as FE.
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http://dx.doi.org/10.1007/s00404-022-06407-5DOI Listing
February 2022

A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.

J Gene Med 2022 02 30;24(2):e3398. Epub 2021 Dec 30.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian, China.

Background: Hereditary factor VII deficiency (FVIID) is a rare congenital autosomal recessive bleeding disorder. In clinical manifestations, its onset is caused by variant of the F7 gene (NM_019616) with strong heterogeneity. We identified a family with hematuria caused by a novel F7 compound heterozygous variant and investigated the FVIID-dependent mechanism impacted by these variants.

Methods: Coagulation factors in the proband were functionally verified. We located pathogenic variants in relevant genes using next-generation sequencing after target enrichment and verified them by Sanger sequencing. We examined the coagulation activity and secretion pattern of recombinant FVII variants expressed in cells and observed their location and stability by immunofluorescence.

Results: We found a missense variant c.1207G>A (p.Gly403Ser) and a frameshift variant c.154_155del (p.Arg53fs) in the F7 gene of the proband. FVII activity tests showed that the variants significantly decreased its presence in the cell culture supernatant. Moreover, the R53fs mutant lacked the FVII functional domain and had no detectable activity. Immunofluorescence indicated that the p.Gly403Ser variant was distributed to the cell membrane and cytoplasm, whereas the FVII R53fs variant was not detected. Deficient FVII protein function and severe coagulation disorder are the likely causes of hematuria and other bleeding symptoms in the proband.

Conclusions: The newly discovered F7 gene variants enrich the spectrum of hereditary FVII deficiency and provide a new foundation for the diagnosis and treatment of this type of coagulation disorder.
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http://dx.doi.org/10.1002/jgm.3398DOI Listing
February 2022

Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.

Neurol Sci 2022 Apr 16;43(4):2555-2563. Epub 2021 Nov 16.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, China.

Background: The spectrum of neurological diseases related to ATP1A3 gene mutations is highly heterogeneous and exhibits different phenotypes. Phenotype overlaps, including alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy, and rapid-onset dystonia-parkinsonism (RDP), can also occur at extremely low incidences. Currently, over 90 types of pathogenic mutations have been identified in ATP1A3.

Patients And Methods: The family of a 2-year-11-month-old proband with AHC was recruited for this clinical investigation. The proband was screened for candidate mutation gene sites using next-generation sequencing and target-region capture technology. Sanger sequencing was used to identify carriers among family members.

Results: The mother of the proband with AHC was diagnosed with dystonia (later diagnosed as RDP). The biochemical and immune indices of the proband and the mother were not abnormal. Moreover, brain imaging of the proband revealed no significant abnormalities. However, the electroencephalogram of the mother was mildly abnormal, with no spike wave discharge. Brain MRI revealed slight cerebellar atrophy. Electromyography revealed neurogenic damage, with a decrease in the conduction velocity of the left ulnar and radial nerves. Based on the sequencing data, both the proband and her mother carried c.823G > C p. (Ala275Pro) heterozygotes; other family members were not identified as carriers. With a PolyPhen-2 score of 0.997 and SIFT score of 0.001, this mutation can be considered damaging.

Conclusion: Family genotype-phenotype correlation analysis revealed that the phenotype and gene mutation were co-segregated, suggesting that it may be a pathogenic mutation.
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http://dx.doi.org/10.1007/s10072-021-05673-6DOI Listing
April 2022

Differences in gut microbiota structure in patients with stages 4-5 chronic kidney disease.

Am J Transl Res 2021 15;13(9):10056-10074. Epub 2021 Sep 15.

Shengli Clinical Medical College, Fujian Medical University Fuzhou 350001, Fujian, China.

The gut microbiota can affect human metabolism, immunity, and other biologic pathways through the complex gut-kidney axis (GKA), and in turn participate in the occurrence and development of kidney disease. In this study, 39 patients with stage 4-5 chronic kidney disease (CKD) and 40 healthy individuals were recruited and 16S rDNA sequencing was performed to analyze the V3-V4 conserved regions of their microbiota. A total of 795 operational taxonomic units (OTUs) shared between groups or specific to each group were obtained, among which 255 OTUs with significant differences between the two groups were identified (<0.05). Adonis differential analysis showed that the diversity of gut microbiota was highly correlated with CKD stages 4-5. Additionally, 61 genera with differences in the two groups were identified (<0.05) and 111 species with significant differences in the phyla, classes, orders, families, and genera between the two groups were identified (<0.05). The differential bacterial genera with the greatest contribution were, in descending order: c_Bacteroidia, o_Bacteroidales, p_Bacteroidetes, c_Clostridia, o_Clostridiales, etc. Those with the greatest contribution in stages 4-5 CKD were, in descending order: p_Proteobacteria, f_Enterobacteriaceae, o_Enterobacteriales, c_Gammaproteobacteria, c_Bacilli, etc. The results suggest that the diversity of the microbiota may affect the occurrence, development, and outcome of the terminal stages of CKD.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8507064PMC
September 2021

A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1.

Thromb J 2021 Sep 8;19(1):64. Epub 2021 Sep 8.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, China.

Background: Protein S deficiency (PSD) is an autosomal dominant hereditary disease. In 1984, familial PSD was reported to be prone to recurrent thrombosis. Follow-up studies have shown that heterozygous protein S (PROS1) mutations increase the risk of thrombosis. More than 300 PROS1 mutations have been identified; among them, only a small number of mutations have been reported its possible mechanism to reduce plasma protein S (PS) levels. However, whether PROS1 mutations affect protein structure and why it can induce PSD remains unknown.

Methods: The clinical phenotypes of the members of a family with thrombosis were collected. Their PS activity was measured using the coagulation method, whereas their protein C and antithrombin III activities were measured using methods such as the chromogenic substrate method. The proband and her parents were screened for the responsible mutation using second-generation whole exon sequencing, and the members of the family were verified for suspected mutations using Sanger sequencing. Mutant and wild type plasmids were constructed and transfected into HEK293T cells to detect the mRNA and protein expression of PROS1.

Results: In this family, the proband with venous thrombosis of both lower extremities, the proband's mother with pulmonary embolism and venous thrombosis of both lower extremities, and the proband's younger brother had significantly lower PS activity and carried a PROS1 c. 1820 T > C:p.Leu607Ser heterozygous mutation (NM_000313.3). However, no such mutations were found in family members with normal PS activity. The PS expression in the cell lysate and supernatant of the Leu607Ser mutant cells decreased, while mRNA expression increased. Immunofluorescence localization showed that there was no significant difference in protein localization before and after mutation.

Conclusions: The analysis of family phenotype, gene association, and cell function tests suggest that the PROS1 Leu607Ser heterozygous mutation may be a pathogenic mutation. Serine substitution causes structural instability of the entire protein. These data indicate that impaired PS translation and synthesis or possible secretion impairment is the main pathogenesis of this family with hereditary PSD and thrombophilia.
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http://dx.doi.org/10.1186/s12959-021-00316-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8424916PMC
September 2021

Retrospective observation of the efficacy and safety of prostatic artery embolization combined with transurethral resection of the prostate and simple transurethral resection of the prostate in the treatment of large (> 100 mL) benign prostatic hyperplasia.

Abdom Radiol (NY) 2021 12 26;46(12):5746-5757. Epub 2021 Aug 26.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, China.

Purpose: To retrospectively compare the efficacy and safety of prostatic artery embolization (PAE) combined with transurethral resection of the prostate (TURP) and simple TURP in treating large (> 100 mL) benign prostatic hyperplasia (BPH).

Methods: We retrospectively analyzed the clinical data of 13 and 17 patients with large BPH who underwent TURP and PAE + TURP, respectively, from January 2016 to January 2020. The changes in various indices before and after surgery were compared between the two groups.

Results: In the PAE + TURP group, the operation time (OT), intraoperative blood loss (BL), postoperative bladder flushing time (PBFT), and postoperative catheter retention time (PCRT) were lower, and the speed of the excised lesion (SEL) was higher than that in the TURP group (P < 0.05). Following-up for 12 months, the prostatic volume (PV), maximum urinary flow rate (Qmax), postvoid residual volume (PVR), International Prostate Symptom Score (IPSS), quality of life (QoL) score, total prostate-specific antigen (T-PSA), and free prostate-specific antigen (F-PSA) in each group improved as compared to before the surgery (P < 0.05), and the above improved indicators, IPSS ratio, and obstructive symptoms in the PAE + TURP group were higher than those in the TURP group (P < 0.05). The incidence of postoperative complications in the PAE + TURP group was lower than that in the TURP group. We obtained the pathological picture of a prostate biopsy after PAE for the first time.

Conclusion: Compared to TURP alone, PAE + TURP should be promoted, because of its greater efficacy and safety in treating large BPH and fewer post-surgical complications.
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http://dx.doi.org/10.1007/s00261-021-03258-7DOI Listing
December 2021

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous Mutations.

Biomed Res Int 2021 10;2021:9973161. Epub 2021 May 10.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou 350001, China.

Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing renal tubular disease, which is caused by a pathogenic mutation of encoding thiazide-sensitive Na-Cl cotransporter, which leads to disturbance of sodium and chlorine reabsorption in renal distal convoluted tubules, resulting in phenotypes such as hypovolemia, renin angiotensin aldosterone system (RAAS) activation, hypokalemia, and metabolic alkalosis. In this study, two GS families with proteinuria or Hashimoto's thyroiditis were analyzed for genetic-phenotypic association. Sanger sequencing revealed that two probands carried compound heterozygous mutations, and proband A carried two pathogenic mutations: missense mutation Arg83Gln, splicing mutation, or frameshift mutation NC_000016.10:g.56872655_56872667 (gcggacatttttg>accgaaaatttt) in exon 8. Proband B carries two missense mutations: novel Asp839Val and Arg904Gln. Both probands manifested hypokalemia, hypomagnesemia, hypocalcinuria, metabolic alkalosis, and RAAS activation; in addition, the proband A exhibited decreased urinary chloride, phosphorus, and increased magnesium ions excretion, complicated with Hashimoto's Thyroiditis, while the proband B exhibited enhanced urine sodium excretion and proteinuria. The older sister of proband B with GS also had Hashimoto's thyroiditis. Electron microscopy revealed swelling and vacuolar degeneration of glomerular epithelial cells, diffuse proliferation of mesangial cells and matrix, accompanied by a small amount of low-density electron-dense deposition, and segmental fusion of epithelial cell foot processes in proband B. Light microscopy showed mild mesangial hyperplasia in the focal segment of the glomerulus, hyperplasia, and hypertrophy of juxtaglomerular apparatus cells, mild renal tubulointerstitial lesions, and one glomerular sclerosis. So, long-term hypokalemia of GS can cause kidney damage and may also be susceptible to thyroid disease.
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http://dx.doi.org/10.1155/2021/9973161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8128541PMC
September 2021

Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype.

Can J Gastroenterol Hepatol 2021 12;2021:6610434. Epub 2021 Apr 12.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou 350001, China.

A large number of colorectal cancers have a genetic background in China. However, due to insufficient awareness, the diagnostic rate remains low and merely 5-6% of colorectal cancer patients are diagnosed with hereditary colorectal cancer. Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disease caused by mutations in the adenomatous polyposis coli (APC) gene. Different mutation sites in APC are associated with the severity of FAP, risks of carcinogenesis, and extraintestinal manifestations. We used next-generation sequencing (NGS) and capture techniques to screen suspected mutation points in the proband in this pedigree. Using modified Sanger sequencing, we identified members of the family who were carriers of this variant and whether this segregated well with disease occurrence. FAP family members had multiple adenomatous polyps in their gastrointestinal tracts, some of which developed into cancer with age. Two subjects presented a rare common bile duct polyp phenotype. No extraintestinal manifestations were observed. A heterozygous frameshift mutation in APC exon 16 (NM_000038.6) was observed in the proband and in other patients: c.3260_3261del (p.Leu1087GlnQfs 31) (rs587782305); the variant call format was CCT/C. Due to the deletion of two bases, a stop codon appeared after 31 amino acids, and the protein was truncated prematurely, which affected the conformation of the protein. Pedigree genetic linkage analysis showed that the clinical phenotype cosegregated with the APC mutation p.L1087fs. This mutation may be the pathogenic in this FAP family and responsible for this rare common bile duct polyp.
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http://dx.doi.org/10.1155/2021/6610434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8057911PMC
July 2021

Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis.

World J Clin Cases 2020 Dec;8(23):5962-5975

Shengli Clinical Medical College, Fujian Medical University, Fuzhou 350001, Fujian Province, China.

Background: It is not easy to identify the cause of various iron overload diseases because the phenotypes overlap. Therefore, it is important to perform genetic testing to determine the genetic background of patients.

Aim: To investigate the genetic background of a patient with hemochromatosis complicated by psoriasis on both lower extremities.

Methods: Ten years ago, a 61-year-old male presented with iron overload, jaundice, hemolytic anemia and microcytic hypochromic anemia. Computed tomography of the left knee joint showed enlargement of the tibial medullary cavity and thinned bone cortices. Magnetic resonance imaging showed hepatic hemochromatosis, extensive abnormal signals from bone marrow cavities and nodular lesions in the lateral medullary cavity of the upper left lateral tibia. Single photon emission computed tomography showed radial dots of abnormal concentration in the upper end of the left tibia and radial symmetry of abnormal concentrations in joints of the extremities. The patient showed several hot spot mutations of the and genes detected by next-generation sequencing, but no responsible gene mutation was found. The thalassemia gene was detected by gap-PCR.

Results: The patient was found to carry the -α and -- deletion mutations of the globin gene. These two mutations are common causes of Southeast Asian α-thalassemia, but rarely cause severe widespread non-transfusion secondary hemochromatosis osteoarthropathy. The simultaneous presence of an auxiliary superposition effect of a rare missense mutation of the gene (NM_001142864, c.C4748T, p.A1583V) was considered. Moreover, several rare mutations of the and genes may be involved in the pathogenesis of psoriasis.

Conclusion: The selection of genetic detection methods for hemochromatosis still needs to be based on an in-depth study of the clinical manifestations of the disease.
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http://dx.doi.org/10.12998/wjcc.v8.i23.5962DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7723718PMC
December 2020

Effect of superselective prostatic artery embolization on benign prostatic hyperplasia.

Abdom Radiol (NY) 2021 04 6;46(4):1726-1736. Epub 2020 Oct 6.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, China.

Purpose: To investigate the safety and effectiveness of superselective prostatic artery embolization (PAE) in patients with benign prostatic hyperplasia (BPH).

Methods: Sixty-five patients diagnosed with BPH in Fujian Provincial Hospital between December 2014 and July 2019 were included. Patients with ineffective drug treatment after 6 months, who refused surgery, or who were unsuitable for surgery were included. We observed postoperative complications, followed up at 1, 3, and 6 months, compared clinical symptoms, and monitored changes in prostate-specific antigen (PSA) and prostatic volume (PV) before and after treatment.

Results: Of the 65 patients, 58 (89.23%) successfully received PAE; 44 and 14 bilateral and unilateral embolization, respectively. Clinical efficacy was 94.83% (55/58) after the 6-month follow-up. Postoperative PV, International Prostate Symptom Score, quality of life, maximum flow rate, and post-void residual significantly improved after 6 months (P < 0.05). One month after PAE, the serum total PSA increased by 1.47 (10.84/7.37) times and dropped 3 months later to a level lower than that before surgery (P < 0.05). Six months after PAE, the degree of relief from obstructive symptoms was more apparent than that of irritative symptoms. No serious complications were observed after PAE.

Conclusion: PAE was safe and effective for the treatment of BPH. The efficacy of bilateral PAE was better than that of unilateral PAE.
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http://dx.doi.org/10.1007/s00261-020-02782-2DOI Listing
April 2021

Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene.

Cell Death Dis 2020 03 2;11(3):159. Epub 2020 Mar 2.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, China.

Hereditary distal renal tubular acidosis (dRTA) is a rare disease of H excretion defect of α-intercalated cells in renal collecting duct, caused by decreased V-ATPase function due to mutations in the ATP6V1B1 or ATP6V0A4 genes. In the present study, a genetic family with 5 members of the complete dRTA phenotype were found with distal tubule H secretion disorder, hypokalemia, osteoporosis, and kidney stones. A variant NM_020632.2:c.1631C > T (p.Ser544Leu) in exon 16 on an ATP6V0A4 gene associated with dRTA was detected by next generation sequencing target region capture technique and verified by Sanger sequencing, which suggested that except for one of the patients who did not receive the test, the other four patients all carried the p.S544L heterozygote. In transfected HEK293T cells, cells carrying p.S544L-mut showed early weaker ATPase activity and a slower Phi recovery rate after rapid acidification. By immunofluorescence localization, it was observed that the expression level of p.S544L-mut on the cell membrane increased and the distribution was uneven. Co-immunoprecipitation showed the a4 subunit of ATP6V0A4/p.S544L-mut could not bind to the B1 subunit, which might affect the correct assembly of V-ATPase. The present study of dRTA family suggests that the p.S544L variant may be inherited in a dominant manner.
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http://dx.doi.org/10.1038/s41419-020-2354-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052238PMC
March 2020

TMEM45A is involved in renal fibrosis in rats by regulating Jagged1/Notch pathway.

Front Biosci (Landmark Ed) 2020 01 1;25(4):593-605. Epub 2020 Jan 1.

Provincial Clinical Medical College, Fujian Medical University, NO. 88, Jiaotong Road, Fuzhou 350001, China,

Fibrosis, or the excess deposition of fibrous tissue, is a critical feature of chronic kidney disease. Here, using renal fibrotic rat as a model, which was established via 5/6 nephrectomy (Nx), the role of TMEM45A transmembrane protein in renal fibrosis was investigated. The results indicated that 5/6 Nx gradually led to histopathological abnormalities and loss of kidney function in rats, which correlated with upregulation of TMEM45A and Notch1. Interestingly, in NRK-49F renal cells, overexpression of TMEM45A resulted in up-regulation of extracellular matrix (ECM) components as well as induction of Notch-1 and Jagged-1. These effects were weakened by DAPT, an inhibitor of the Notch pathway, suggesting an important role of Notch signaling in mediating the functions of TMEM45A in NRK-49F cells Moreover, TMEM45A knockdown by TMEM45A siRNA in NRK-49F cells diminished TGF-b1-induced upregulation of ECM components, inflammatory cytokines, Notch-1 and Jagged-1. Correspondingly, TGF-beta 1 exhibited pro-fibrogenic like effect in NRK-49F cells and induced TMEM45A and Jagged1/Notch expression. Collectively, these results demonstrate that TMEM45A plays an important role in renal fibrosis by regulating ECM components and Jagged1/Notch pathway.
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http://dx.doi.org/10.2741/4823DOI Listing
January 2020

Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing.

Mol Med Rep 2018 Nov 5;18(5):4271-4280. Epub 2018 Sep 5.

Provincial Clinical Medical College, Fujian Medical University, Fuzhou, Fujian 350001, P.R. China.

Dilated cardiomyopathy (DCM) is a complex myocardial disease of multifactorial etiologies, including enlarged cardiac chambers and contractile dysfunction. It has been suggested that the inheritance of DCM‑associated mutations predominates its onset. Therefore, the present study investigated the pathogenesis of DCM via pedigree analysis and genetic diagnosis by massive whole‑exome screening, and targeted exon capture. To study the familial gene‑phenotype association, the exon and splice sites of 325 hereditary disease‑associated genes in the proband with familial dilated cardiomyopathy (FDC), including 61 cardiac disease‑associated genes, such as the lamins A/C (LMNA), were analyzed by ultra‑high multiplex polymerase chain reaction and the Ion AmpliSeq™ Inherited Disease Panel. The present study also conducted Sanger DNA Sequencing for family members with global minor allele frequencies <1% to verify potential pathogenic mutation sites. A total of three rare missense mutations were detected, including heterozygous c.244G>A in LMNA, c.546C>G in potassium voltage‑gated channel subfamily KQT (KCNQ4) and c.1276G>A in EYA transcriptional coactivator and phosphatase 1 (EYA1), indicating a glutamic acid to lysine substitution at amino acid 82 (p.E82K) in LMNA, a p.F182L in KCNQ4 (a mutation associated with pathogenic deafness) and p.G426S in EYA1 (associated with Branchiootorenal syndrome 1 and Branchiootic syndrome 1 pathogenesis). In the present study, a carrier with slight hearing impairment was detected in the family analyzed; however, no patients with deafness or branchiootorenal syndrome were observed. LMNA p.E82K revealed SIFT and PolyPhen‑2 scores of 0 and 1, respectively. In the second generation, 3 patients with DCM underwent permanent pacemaker implantation due to sick sinus syndrome, atrioventricular block and unstable cardiac electrophysiology. The present study suggested that LMNA p.E82K may contribute to the pathogenesis of FDC and concomitant atrioventricular block. At present, only three families with DCM resulting from similar mutations have been reported. The present study demonstrated the strong pathogenic effects of LMNA p.E82K on DCM.
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http://dx.doi.org/10.3892/mmr.2018.9455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172371PMC
November 2018

Genetic analysis of sick sinus syndrome in a family harboring compound CACNA1C and TTN mutations.

Mol Med Rep 2018 05 16;17(5):7073-7080. Epub 2018 Mar 16.

Department of Traditional Chinese Medicine, Fujian Provincial Hospital, Fuzhou, Fujian 350001, P.R. China.

Sick sinus syndrome (SSS) is a sinus node dysfunction characterized by severe sinus bradycardia. SSS results in insufficient blood supply to the brain, heart, kidneys, and other organs and is associated with the increased risk of sudden cardiac death. Bradyarrhythmia appears in the absence of any associated cardiac pathology and displays a genetic legacy. The present study identified a family with primary manifestation of sinus bradycardia (five individuals) along with early repolarization (four individuals) and atrial fibrillation (one individual). Targeted exome sequencing was used to screen exons and adjacent splice sites of 61 inherited arrhythmia‑associated genes, to detect pathogenic genes and variant sites in the proband. Family members were sequenced by Sanger sequencing and protein functions predicted by Polyphen‑2 software. A total of three rare variants were identified in the family, including two missense variants in calcium voltage‑gated channel subunit alpha1 C (CACNA1C) (gi:193788541, NM_001129843), c.1786G>A (p.V596M) and c.5344G>A (p.A1782T), and one missense variant in titin (TTN) c.49415G>A (p.R16472H) (gi:291045222, NM_003319). The variants p.V596M and p.R16472H were predicted to be deleterious and resulted in alterations in the amino acid type and sequence of the polypeptide chain, which may partially or completely inactivate the encoded protein. The comparison of literature, gene database, and pedigree phenotype analysis suggests that p.V596M or p.R16472H variants are pathogenic. The complex overlapping variants at three loci lead to a more severe phenotype in the proband, and may increase the susceptibility of individuals to atrial fibrillation. The simultaneous occurrence of V596M and R16472H may increase the severity of early repolarization. Various family members may have carried heterozygous mutants of p.A1782T and p.R16472H due to genetic heterogeneity, however did not exhibit clinical signs of cardiac electrophysiological alterations, potentially attributable to the low vagal tone. To the best of the author's knowledge, this is the first study to suggest the involvement of the novel missense CACNA1C c.1786G>A and TTN c.49415G>A variants in the inheritance of symptomatic bradycardia and development of SSS.
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http://dx.doi.org/10.3892/mmr.2018.8773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928663PMC
May 2018

Association of Tongue Bacterial Flora and Subtypes of Liver-Fire Hyperactivity Syndrome in Hypertensive Patients.

Evid Based Complement Alternat Med 2018 10;2018:9536924. Epub 2018 Jan 10.

Teaching and Research Office of Medical Cosmetology, Department of Management, Fujian Health College, Fuzhou 350101, China.

Structural changes in symbiotic human microorganisms can affect host phenotype. Liver-fire hyperactivity syndrome (LFHS) presents as bitter taste, halitosis, xerostomia, odontalgia, and other oral symptoms. LFHS is associated with hypertension (EH). In this study, tongue flora was analyzed to further understand the intrinsic relationship between tongue flora and LFHS. Samples of tongue coating, from 16 patients with EH-LFHS, 16 with EH-non-LFHS, and 16 controls, were obtained; then, 16S rRNA variable (V3-V4) regions were amplified and sequenced by MiSeq PE300 Sequencing. Tag clustering and Operational Taxonomic Units (OTUs) abundance analysis were used to compare the OTU sequence with the 16S database. The species were classified, and diversity and structure of the bacterial flora were compared between the three groups. Alpha diversity analysis, including Observed Species index and Chao index, indicated significantly higher richness of species in patients with EH-LFHS ( < 0.05). Higher phylogenetic diversity, in patients with EH-non-LFHS, indicates greater differences in evolutionary history than in patients with EH-LFHS. , , , and were the most prevalent in patients with EH-LFHS, differed from the other two groups. This indicates that richer bacterial diversity, and structure associated with EH-LFHS, may affect the occurrence, development, and outcome of hypertension and syndrome subtypes recognized by TCM.
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http://dx.doi.org/10.1155/2018/9536924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818919PMC
January 2018

The Construction of Unsmooth Pulse Images in Traditional Chinese Medicine Based on Wave Intensity Technology.

Evid Based Complement Alternat Med 2016 24;2016:2468254. Epub 2016 Nov 24.

Provincial Clinical Medical College, Fujian Medical University, Fuzhou 350001, China; Department of Traditional Chinese Medicine, Fujian Provincial Hospital, Fuzhou 350001, China.

Unsmooth pulse is one of the most important pulses in TCM diagnostics. We constructed the wave intensity (WI) images of unsmooth pulse based on the pressure wave (), flow velocity wave (), and WI [(/)(/)] by ALOKA Prosound 10 Color Doppler. The characteristic of Cunkou normal pulse could be summarized as follows: compared to Renying pulse, its 1 amplitude is smaller and NA wave is more obvious, while the 2 wave is indistinct or even invisible, and the -1st is longer than that of Renying pulse. The principal wave of Renying pulse looks like "Λ" shape, while it looks like an arched blunt "" shape in Cunkou pulse, and the amplitude of wave in Cunkou pulse is smaller. The direction of the principal wave in Cunkou unsmooth pulse is up, which shows hoof boots "h" shape with high amplitude and a significant notch on declined branch; the amplitude of predicrotic wave in unsmooth pulse wave is significantly higher, which could be even higher than that of h1, resulting in early appearance of h3 or integrating with h1, which forms a wide and blunt peak. Unsmooth pulse shows poorer vascular elasticity and greater vascular stiffness.
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http://dx.doi.org/10.1155/2016/2468254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143737PMC
November 2016

[Methylation in Promoter Region of SLC6A2 Gene in Heart Failure Patients and Its Correlation with Qi Deficiency/Blood Stasis Syndrome].

Zhongguo Zhong Xi Yi Jie He Za Zhi 2015 Dec;35(12):1448-54

Objective: To explore the methylation status in promoter region of norepinephrine transporter gene (NET, SLC6A2) in heart failure ( HF) patients and its correlation with qi deficiency/blood stasis syndrome (QDS/BSS).

Methods: Thirty-six patients with heart failure (NYHA classification III to IV) were recruited in the study (as the heart failure group) and their scores of QDS/BSS were evaluated. Besides, a healthy elderly group (30 cases) and a healthy youth group (30 cases) were also set up. They were recruited from Physical Examination Center of Fujian Provincial Hospital. Pyrosequencing was applied to detect the methylation in promoter region of SLC6A2 gene, and the total methylation index (MTI) of CpG island was calculated. The correlation between the methylation status in promoter region of SLC6A2 and scores of QDS/BSS was assessed using Pearson and Partial analyses. Risk factors were screened and adjusted using Logistic regression.

Results: By one-factor analysis of variance, the total MTI in the HF group (219.72% ± 54.03%) was obviously higher than that in the healthy elderly group (194.47% ± 34.92%) and the healthy youth group (161.60% ± 41.11%) (all P < 0.05). Meanwhile, the total MTI was higher in the healthy elderly group than in the healthy youth group (P < 0.01). By covariance analysis , after controlling age and BMI, the total MTI was higher in the HF group than in the healthy elderly group (P = 0.041), while it was higher in the healthy elderly group than in the healthy youth group (P = 0.016). Age was found to play an essential role in affecting MTI of SLC6A2 gene promoter region among the 3 groups (F = 16.447, P = 0.01). The total MTI was quite lower in the healthy youth group. Results of Partial correlation analysis showed MTI was positively correlated with scores of qi deficiency and blood stasis respectively (r = 0.494 and 0.419 respectively, both P < 0.05). Logistic regression analysis showed after adjusting confounding factors, the relative risk (OR value) of total MTI of SLC6A2 gene in promoter region was 1.038 (95% CI, 1.006 to 1.071, P = 0.020).

Conclusions: Abnormally elevated methylation of the promoter region of SLC6A2 gene is one of risk factors for HF. In addition, the degree of methylation of the promoter region of SLC6A2 gene was positively correlated with the severity of QDS/BSS.
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December 2015

Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine.

Chin J Integr Med 2017 Jun 29;23(6):461-468. Epub 2016 Jan 29.

Department of Surgical Oncology, Fujian Provincial Hospital, Fujian Medical University, Fuzhou, 350001, China.

Objective: To determine the gene location of two Gitelman syndrome (GS) family SLC12A3 genes and explore treatments using Chinese medicine (CM) prescriptions.

Methods: In order to locate the two GS mutations, samples were collected from 11 people from two different pedigrees for direct genetic sequencing and comparison of the 26 exons of SLC12A3. Furthermore, the change of serum potassium was monitored throughout the therapy and those two probands undertook a sequential superposition of Western medicine (including potassium, Panangin and potassium-sparing diuretics) with CM prescription based on Buyang Huanwu Decoction () and Sijunzi Decoction (). The treatment included three stages, oral potassium chloride for the first 2 weeks (stage 1), potassium-sparing diuretic and Panangin with potassium chloride for the next 2 weeks (stage 2), CM along with the medicine in stage 2 for the final 2 weeks (stage 3).

Results: The three mutations occurring in proband 1 from pedigree I were Thr60Met, 965-1_976del13ins12 (small indels mutation) and Ala122Ala (homozygous silent mutation). Likewise, three mutations, Asn359Lys, Thr382Met and Arg913Gln, appeared in the proband 2 from pedigree II. The serum potassium levels increasing from baseline to sequential stages were 1.63 mmol/L (baseline), 2.5 mmol/L (stage 1), 3.1 mmol/L (stage 2) and 3.9 mmol/L (stage 3) in the proband 1, and 2.8 mmol/L (baseline), 3.1 mmol/L (stage 1), 3.5 mmol/L (stage 2) and 4.3 mmol/L (stage 3) in the proband 2, respectively. The symptoms (numbness of limbs, weakness, palpitations, etc.) of both probands were all alleviated.

Conclusions: The mutations of both GS pedigrees can be defined as compound heterozygous mutations, most of which are known as missense mutations. Applying CM could be an appropriate choice for future intervention of GS.
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http://dx.doi.org/10.1007/s11655-016-2461-xDOI Listing
June 2017

[Design, synthesis and activities of novel benzothiazole derivatives containing arylpiperazine].

Yao Xue Xue Bao 2013 Aug;48(8):1259-65

Department of Pharmacology, North Sichuan Medical College, Nanchong 637007, China.

Twenty-four novel benzothiazole derivatives containing arylpiperazine were designed and synthesized by bioisosterism principle. Anti-proliferative effect of these synthesized compounds against four cancer cell and two normal cell lines were evaluated in vitro by the standard MTT assay. Pharmacological test showed that most of the compounds exhibited potent antitumor activity. Some of the compounds (II2, II3, II6, II7) showed strong anti-proliferation activities against HepG2 and HeLa229 cell lines with the IC 50 values of 1.6-4.5 micromol x L(-1) and 2.5-5.3 micromol x L(-1), respectively, and compounds having cyan in p-substituted benzene ring (I4, I8, I12, II4, II8 and II12) were found to have better antitumor activities against AsPC-1 cell lines with the IC50 values of 5.2-11.3 micromol x L(-1). The structure-activity relationship of benzothiazole derivatives containing arylpiperazine was also discussed preliminarily.
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August 2013

[Relationship between gene polymorphism and haplotype of SLC6A2 promoter and blood-stasis pattern in patients with essential hypertension].

Zhongguo Zhong Xi Yi Jie He Za Zhi 2010 May;30(5):458-62

Department of Cardiology, Fujian Provincial Hospital, Fuzhou.

Objective: To explore the relationship between the genetic variants of the norepinephrine transporter gene solute carrier family 6 member 2 (SLC6A2) and blood stasis pattern (BSP) in patients with essential hypertension (EH).

Methods: DNA was extracted from the peripheral blood of 830 EH patients (532 were typed as BSP and 298 as non-BSS) and 512 persons with normal blood pressure (for control), to detect the polymorphisms of SLC6A2 promoter-3 and 2 by PCR-RFLP, and estimate the haplotype frequency adopting SHEsis program.

Results: Chi2 partition showed that frequency of promoter-2-GG genotype in EH patients of BSP was lower than that in the EH patients of non-BSP and the normal control (P = 0.001); while that of promoter-3-GG/GA in the EH patients with severe BSP was the highest (P < 0.001). Logistic regression analysis showed that after the miscellaneous factors being rectified, with the reference category of EH-non-BSP, the relative odds ratio (OR) of promoter-2-GC/CC genotype for EH-BSP was 1.535 (95% CI: 1.094-2.155, P = 0.013); that of promoter-3-AG/GG genotype for EH with severe BSP was 1.925 (95% CI: 1.199-3.091, P = 0.007); while OR of G-C haplotype (promoter-3-promoter-2) for EH-BSP was 2.127 (95% CI: 1.202-3.765, P = 0.010), showing the strongest intensity.

Conclusion: SLC6A2 promoter-3-GA/GG genotype may be a susceptibility gene for patients of EH with severe BSP; promoter-2-GC/CC and G-C haplotype might be the susceptible factors to EH-BSP.
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May 2010

N,N'-Bis(4-nitro-phen-yl)biphenyl-2,2'-dicarboxamide.

Acta Crystallogr Sect E Struct Rep Online 2010 Feb 17;66(Pt 3):o644. Epub 2010 Feb 17.

School of Chemistry and Chemical Engineering, China West Normal University, Nanchong 637002, People's Republic of China.

In the title compound, C(26)H(18)N(4)O(6), the amide units are approximately coplanar with the benzene ring bonded to the N atom [dihedral angles of 10.59 (10) and 24.00 (12)°], but twisted significantly out of the plane of the benzene ring bonded to the carbonyl C atom [dihedral angles of 57.82 (9) and 58.05 (9)°]. The dihedral angle between the two rings of the biphenyl unit is 77.66 (4)°. Intra-molecular N-H⋯O hydrogen bonds and weak C-H⋯O inter-actions occur. The crystal structure is stabilized by inter-molecular N-H⋯O hydrogen bonds and C-H⋯O contacts.
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http://dx.doi.org/10.1107/S1600536810005283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2983665PMC
February 2010

[Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Jun;25(3):308-10

Fujian Provincial Hospital, Fujian Medical University, Fuzhou, Fujian, 350001 People's Republic of China.

Objective: To identify the activin A receptor type II-like 1 gene (ACVRL1) mutations in a Chinese family with hereditary hemorrhagic telangiectasia (HHT2).

Methods: The exons 3, 7 and 8 of ACVRL1 gene of the proband and her five family members were amplified by polymerase chain reaction (PCR), and the PCR products were sequenced.

Results: The proband had obvious telangiectasis of gastric mucosa, and small arteriovenous fistula in the right kidney. All the patients in the HHT2 family had iterative epistaxis or bleeding in other sites, and had telangiectasis of nasal mucosa, tunica mucosa oris and finger tips. ACVRL1 gene analysis confirmed that there is frameshift mutation caused by deletion of G145 in exon 3 in the 4 patients, but the mutation is absent in 2 members without HHT2.

Conclusion: The HHT2 family is caused by a 145delG mutation of ACVRL1 gene, resulting in frameshift and a new stop codon at codon 53.
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June 2008
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