1.A competency model for "dual-qualified" teachers in vocational undergraduate rehabilitation therapy programs based on the integration of rehabilitation competency framework and multi-source standards
Le AN ; Xiaoxia QIN ; Bin GU ; Guobing HU ; Weiyi TIAN
Chinese Journal of Rehabilitation Theory and Practice 2026;32(3):258-269
ObjectiveTo construct a competency model for "dual-qualified" teachers in vocational undergraduate rehabilitation therapy programs based on the World Health Organization's rehabilitation competency framework (RCF) and relevant domestic and international standards, and explore the training pathways for rehabilitation therapy teachers in China. MethodsLiterature analysis and comparative research methods were employed to systematically review RCF, physiotherapist-education-framework-FINAL, the Minimum-Standards-for-the-Education-of-Occupational-Therapists, and the "dual-qualified" teacher standards in vocational education for China. Focusing on the characteristics of vocational undergraduate talent cultivation, it took the integration of the "educator-clinical rehabilitation therapist" dual roles as its starting point, combining rehabilitation industry competence with educator standards as its basic principle, and using RCF as its foundational dimension. It then integrated advanced competency dimensions required of vocational undergraduate teachers to form a dimensional framework. Following the systematic curriculum development concept of the work process, the core activities of each dimension were designed by combining, improving and expanding the concept integration method, and describing the ability characteristics in a graded and progressive manner, to construct a model. ResultsThis model was guided by the core concepts of three types of values and four types of professional beliefs. Vertically, it encompassed 28 activities across eight competency dimensions, including teaching practice, rehabilitation practice, digital literacy, professionalism, learning and development, management and leadership, applied research, and social service. Horizontally, it encompassed 53 corresponding competency characteristics across three advanced levels (beginner, intermediate and advanced). ConclusionThis model, through its vertical dimension design and horizontal progressive development, clearly describes the advancement of vocational undergraduate rehabilitation therapy teachers from newly hired teachers to backbone teachers and professional leaders. It not only aligns with the general requirements of the national standards for "dual-qualified" teachers in higher vocational colleges in China, but also incorporates an international perspective on rehabilitation education and practice, and possesses the characteristics of vocational undergraduate education that integrates multiple abilities and roles. At the theoretical level, it provides core theoretical support for establishing standardized and internationalized "dual-qualified" teacher standards for vocational undergraduate rehabilitation therapy programs in China; at the practical level, it serves as an "action map" for teacher professional development, assessment and evaluation, providing a key reference for constructing a systematic high-end skilled rehabilitation talent training system.
2.A competency model for "dual-qualified" teachers in vocational undergraduate rehabilitation therapy programs based on the integration of rehabilitation competency framework and multi-source standards
Le AN ; Xiaoxia QIN ; Bin GU ; Guobing HU ; Weiyi TIAN
Chinese Journal of Rehabilitation Theory and Practice 2026;32(3):258-269
ObjectiveTo construct a competency model for "dual-qualified" teachers in vocational undergraduate rehabilitation therapy programs based on the World Health Organization's rehabilitation competency framework (RCF) and relevant domestic and international standards, and explore the training pathways for rehabilitation therapy teachers in China. MethodsLiterature analysis and comparative research methods were employed to systematically review RCF, physiotherapist-education-framework-FINAL, the Minimum-Standards-for-the-Education-of-Occupational-Therapists, and the "dual-qualified" teacher standards in vocational education for China. Focusing on the characteristics of vocational undergraduate talent cultivation, it took the integration of the "educator-clinical rehabilitation therapist" dual roles as its starting point, combining rehabilitation industry competence with educator standards as its basic principle, and using RCF as its foundational dimension. It then integrated advanced competency dimensions required of vocational undergraduate teachers to form a dimensional framework. Following the systematic curriculum development concept of the work process, the core activities of each dimension were designed by combining, improving and expanding the concept integration method, and describing the ability characteristics in a graded and progressive manner, to construct a model. ResultsThis model was guided by the core concepts of three types of values and four types of professional beliefs. Vertically, it encompassed 28 activities across eight competency dimensions, including teaching practice, rehabilitation practice, digital literacy, professionalism, learning and development, management and leadership, applied research, and social service. Horizontally, it encompassed 53 corresponding competency characteristics across three advanced levels (beginner, intermediate and advanced). ConclusionThis model, through its vertical dimension design and horizontal progressive development, clearly describes the advancement of vocational undergraduate rehabilitation therapy teachers from newly hired teachers to backbone teachers and professional leaders. It not only aligns with the general requirements of the national standards for "dual-qualified" teachers in higher vocational colleges in China, but also incorporates an international perspective on rehabilitation education and practice, and possesses the characteristics of vocational undergraduate education that integrates multiple abilities and roles. At the theoretical level, it provides core theoretical support for establishing standardized and internationalized "dual-qualified" teacher standards for vocational undergraduate rehabilitation therapy programs in China; at the practical level, it serves as an "action map" for teacher professional development, assessment and evaluation, providing a key reference for constructing a systematic high-end skilled rehabilitation talent training system.
3.A competency model for "dual-qualified" teachers in vocational undergraduate rehabilitation therapy programs based on the integration of rehabilitation competency framework and multi-source standards
Le AN ; Xiaoxia QIN ; Bin GU ; Guobing HU ; Weiyi TIAN
Chinese Journal of Rehabilitation Theory and Practice 2026;32(3):258-269
ObjectiveTo construct a competency model for "dual-qualified" teachers in vocational undergraduate rehabilitation therapy programs based on the World Health Organization's rehabilitation competency framework (RCF) and relevant domestic and international standards, and explore the training pathways for rehabilitation therapy teachers in China. MethodsLiterature analysis and comparative research methods were employed to systematically review RCF, physiotherapist-education-framework-FINAL, the Minimum-Standards-for-the-Education-of-Occupational-Therapists, and the "dual-qualified" teacher standards in vocational education for China. Focusing on the characteristics of vocational undergraduate talent cultivation, it took the integration of the "educator-clinical rehabilitation therapist" dual roles as its starting point, combining rehabilitation industry competence with educator standards as its basic principle, and using RCF as its foundational dimension. It then integrated advanced competency dimensions required of vocational undergraduate teachers to form a dimensional framework. Following the systematic curriculum development concept of the work process, the core activities of each dimension were designed by combining, improving and expanding the concept integration method, and describing the ability characteristics in a graded and progressive manner, to construct a model. ResultsThis model was guided by the core concepts of three types of values and four types of professional beliefs. Vertically, it encompassed 28 activities across eight competency dimensions, including teaching practice, rehabilitation practice, digital literacy, professionalism, learning and development, management and leadership, applied research, and social service. Horizontally, it encompassed 53 corresponding competency characteristics across three advanced levels (beginner, intermediate and advanced). ConclusionThis model, through its vertical dimension design and horizontal progressive development, clearly describes the advancement of vocational undergraduate rehabilitation therapy teachers from newly hired teachers to backbone teachers and professional leaders. It not only aligns with the general requirements of the national standards for "dual-qualified" teachers in higher vocational colleges in China, but also incorporates an international perspective on rehabilitation education and practice, and possesses the characteristics of vocational undergraduate education that integrates multiple abilities and roles. At the theoretical level, it provides core theoretical support for establishing standardized and internationalized "dual-qualified" teacher standards for vocational undergraduate rehabilitation therapy programs in China; at the practical level, it serves as an "action map" for teacher professional development, assessment and evaluation, providing a key reference for constructing a systematic high-end skilled rehabilitation talent training system.
4.Mechanisms by which microgravity causes osteoporosis
Dejian XIANG ; Xiaoyuan LIANG ; Shenghong WANG ; Changshun CHEN ; Cong TIAN ; Zhenxing YAN ; Bin GENG ; Yayi XIA
Chinese Journal of Tissue Engineering Research 2025;29(10):2132-2140
BACKGROUND:The imbalance between bone resorption and bone formation in microgravity environments leads to significant bone loss in astronauts.Current research indicates that bone loss under microgravity conditions is the result of the combined effects of various cells,tissues,and systems. OBJECTIVE:To review different biological effects of microgravity on various cells,tissues,or systems,and summarize the mechanisms by which microgravity leads to the development of osteoporosis. METHODS:Databases such as PubMed,Web of Science,and the Cochrane Database were searched for relevant literature from 2000 to 2023.The inclusion criteria were all articles related to tissue engineering studies and basic research on osteoporosis caused by microgravity.Ultimately,85 articles were included for review. RESULTS AND CONCLUSION:(1)In microgravity environment,bone marrow mesenchymal stem cells tend to differentiate more into adipocytes rather than osteoblasts,and hematopoietic stem cells in this environment are more inclined to differentiate into osteoclasts,reducing differentiation into the erythroid lineage.At the same time,microgravity inhibits the proliferation and differentiation of osteoblasts,promotes apoptosis of osteoblasts,alters cell morphology,and reduces the mineralization capacity of osteoblasts.Microgravity significantly increases the number and activity of osteoclasts.Microgravity also hinders the differentiation of osteoblasts into osteocytes and promotes the apoptosis of osteocytes.(2)In a microgravity environment,the body experiences changes such as skeletal muscle atrophy,microvascular remodeling,bone microcirculation disorders,and endocrine disruption.These changes lead to mechanical unloading in the bone microenvironment,insufficient blood perfusion,and calcium cycle disorders,which significantly impact the development of osteoporosis.(3)At present,the mechanism by which microgravity causes osteoporosis is relatively complex.A deeper study of these physiological mechanisms is crucial to ensuring the health of astronauts during long-term space missions,and provides a theoretical basis for the prevention and treatment of osteoporosis.
5.Mechanism of Paeoniae Radix Rubra and Aconiti Lateralis Radix Praeparata in Treatment of Acute-on-chronic Liver Failure Based on Bioinformation Analysis and Experimental Validation
Xiaoling TIAN ; Yu ZHANG ; Shan DU ; Mengsi WU ; Nianhua TAN ; Bin CHEN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(1):156-165
ObjectiveTo explore the mechanism of action of Paeoniae Radix Rubra and Aconiti Lateralis Radix Praeparata (CSFZ) in the treatment of acute-on-chronic liver failure (ACLF) through network pharmacology, molecular docking, and animal experiments. MethodsNetwork pharmacology was used to identify potential targets and related signaling pathways for the treatment of ACLF with CSFZ. Molecular docking was used to examine the binding activity of the core components with corresponding key targets. An ACLF rat model was established by subcutaneous and tail vein injections of bovine serum albumin combined with lipopolysaccharide (LPS) + D-galactosamine (D-GalN) intraperitoneal injection. A normal control group (NC), a model group, a CSFZ group (CSFZ, 5.85 g·kg-1), and a hepatocyte growth-promoting granule group (HGFG, 4.05 g·kg-1) were set up in this study. Pathological changes in rat liver tissue were observed using hematoxylin and eosin (HE) and Masson staining. Enzyme-linked immunosorbent assay (ELISA) was used to detect the expression levels of interleukin-6 (IL-6), B-cell lymphoma-2 (Bcl-2), Caspase-3, and albumin (ALB). Real-time quantitative polymerase chain reaction (Real-time PCR) and Western blot were used to measure the mRNA and protein expression levels of phosphoinositide 3-kinase (PI3K), protein kinase B (Akt), phosphorylated PI3K (p-PI3K), and phosphorylated Akt (p-Akt). ResultsNetwork pharmacology screening identified 49 active ingredients of CSFZ, 103 action targets, and 3 317 targets related to ACLF. Among these, 74 targets overlapped with CSFZ drug targets. Key nodes in the protein-protein interaction (PPI) network included Akt1, tumor necrosis factor (TNF), IL-6, Bcl-2, and Caspase-3. Gene Ontology (GO) functional analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis identified multiple signaling pathways, with the PI3K/Akt signaling pathway being the most frequent. Molecular docking showed that the core components of the drug exhibited good binding activity with the corresponding key targets. Animal experiments confirmed that CSFZ significantly improved liver tissue pathological damage in ACLF rats, reduced the release of inflammatory factors and liver cell apoptosis, and upregulated the expression levels of the PI3K/Akt signaling pathway. ConclusionThrough network pharmacology, molecular docking, and in vivo experiments, this study confirms the effect of CSFZ in reducing liver cell inflammatory damage and inhibiting liver cell apoptosis. The specific mechanism may be related to its involvement in regulating the PI3K/Akt signaling pathway.
6.Analysis of echinococcosis in the population and canine Echinococcus infection in Yushu City, Qinghai Province in 2023
Xiaojin MO ; Chunhua GONG ; Wentao GUO ; Gengcheng HE ; Bin JIANG ; Qiufeng LAN ; Xiao MA ; Yufang LIU ; Guirong ZHENG ; Tian TIAN ; Shijie YANG ; Shusheng WU ; Ting ZHANG ; Xiaonong ZHOU
Chinese Journal of Endemiology 2025;44(8):668-673
Objective:To study echinococcosis in the population and canine Echinococcus infection in Yushu City, Qinghai Province, and to explore the current epidemic situation and main transmission species of Echinococcus. Methods:In June 2023, a multi-stage sampling method was used to select 2 villages each in Shanglaxiu Township and Longbao Town, Yushu City, Qinghai Province. Each village included at least 100 permanent residents who had lived locally for at least 1 year and were 2 years old or older as the survey subjects. Enzyme-linked immunosorbent assay (ELISA) was used to detect serum antibodies against Echinococcus larvae in the population, and B-mode ultrasound was used for abdominal organ scanning. Meanwhile, on the main roads of Shanglaxiu Township and Longbao Town, canine feces were collected in designated areas at intervals. ELISA was used to detect the antigen of canine fecal Echinococcus, and PCR was used to detect the types of parasites ( Echinococcus multilocularis, Echinococcus granulosus and Echinococcus shiquicus). Results:A total of 511 residents were investigated in Yushu City, and the positive rate of serum Echinococcus larvae antibodies in the population was 26.22% (134/511), and the detection rate of echinococcosis B-mode ultrasound was 1.37% (7/511). Among them, the detection rates of B-mode ultrasound for cystic echinococcosis (CE) and alveolar echinococcosis (AE) were 1.17% (6/511) and 0.20% (1/511), respectively. The positive rate of Echinococcus antigen in 543 canine feces detected by ELISA was 12.89% (70/543). PCR was used to test 497 canine feces, and the detection rate of Echinococcus was 3.02% (15/497). Among them, the detection rate of Echinococcus multilocularis was higher than that of Echinococcus granulosus [2.82% (14/497) vs 0.20% (1/497)], and the difference was statistically significant (χ 2 = 11.44, P < 0.001). No Echinococcus shiquicus was detected. Conclusions:The positive rates of Echinococcus larvae antibodies in the population and canine Echinococcus antigen in Yushu City, Qinghai Province are both relatively high. There is a mixed epidemic of CE and AE, with Echinococcus multilocularis being the main species.
7.Analysis of completion rate of tumor evaluation at initial assessment and after neoadjuvant therapy for mid and low rectal cancer : a national multicenter real-world study
Kexuan LI ; Tixian XIAO ; Xiaodong WANG ; Bin WU ; Guole LIN ; Yuchen GUO ; Ming QU ; Si WU ; Xiaodong YANG ; Yinshengbo′er BAO ; Baohua WANG ; Fan ZHANG ; Xiangwang YU ; Beizhan NIU ; Junyang LU ; Lai XU ; Guannan ZHANG ; Zhen SUN ; Guoyou ZHANG ; Yan SHI ; Hong JIANG ; Yongjing TIAN ; Yongxiang LI ; Hongwei YAO ; Jun XUE ; Quan WANG ; Lie YANG ; Qian LIU ; Yi XIAO
Chinese Journal of Digestive Surgery 2025;24(1):113-119
Objective:To investigate the completion rate of tumor evaluation at initial assessment and after neoadjuvant therapy for mid and low rectal cancer patients in the national multicenter real-world database.Methods:The prospective real-world study was conducted. The clinicopathological data of 1 074 patients who underwent surgical treatment for mid and low rectal cancer in 47 national medical institutions, including Peking Union Medical College Hospital et al, from May 12,2023 to May 11,2024 were collected. Observation indicators: (1) clinical characteristics of patients with mid and low rectal cancer; (2) initial colonoscopy and pathologic evaluation of tumors in patients with mid and low rectal cancer; (3) initial imaging evaluation of patients with mid and low rectal cancer; (4) imaging evaluation after neoadjuvant therapy for patients with mid and low rectal cancer. Measurement data with normal distribution were represented as Mean± SD, and measurement data with skewed distribution were represented as M( Q1, Q3). Count data were described as absoluter numbers and/or percentages. Results:(1) Clinical characteristics of patients with mid and low rectal cancer. Of the 1 074 patients, there were 713 males and 361 females, aged 63(56,70)years. The body mass index of 1 074 patients was 24(21,26)kg/m 2.For American Society of Anesthesiologists classification, there were 147 cases of stage Ⅰ, 641 cases of stage Ⅱ, 157 cases of stage Ⅲ, 2 cases of stage Ⅳ, and there were 127 cases missing data. (2) Initial colonoscopy and pathologic evaluation of tumors in patients with mid and low rectal cancer. Of the 1 074 patients, there were 787 cases (73.28%) undergoing complete colonoscopy, and there were only 197 cases (18.34%) undergoing immunohistochemical evaluation of all four mismatch repair proteins. (3) Initial imaging evaluation of patients with mid and low rectal cancer. Of the 1 074 patients, there were 842(78.40%) patients completing magnetic resonance imaging (MRI) or ultrasound evaluation, and there were 914(85.10%) patients completing chest, abdomen, and pelvis enhanced computed tomography (CT) evaluation. In the 149 patients completing rectal ultrasound evaluation, there were 122 cases (81.88%) comple-ting T staging evaluation, and there were 81 cases (54.36%) completing N staging evaluation. In the 808 patients completing rectal MRI evaluation, there were 708 cases (87.62%) completing T staging evaluation, and there were 590 cases (73.02%) completing N staging evaluation. (4) Imaging evalua-tion after neoadjuvant therapy for patients with mid and low rectal cancer. Of the 388 patients with neoadjuvant therapy, there were 332 patients (85.57%) completing MRI or ultrasound evaluation, and there were 327 patients (84.28%) completing chest, abdomen, and pelvis enhanced CT evalua-tion. In the 70 patients completing rectal ultrasound evaluation, there were 65 cases (92.86%) com-pleting T staging evaluation, and there were 49 cases (70.00%) completing N staging evaluation. In the 327 patients completing rectal MRI evaluation, there were 246 cases (75.23%) completing T staging, and there were 228 cases (69.72%) completing N staging evaluation. Conclusion:The com-pletion rate of tumor imaging evaluation at initial assessment and after neoadjuvant therapy for mid and low rectal cancer patients on a national scale is relatively good.
8.Palmar approach to on-top plasty for correction of radial polydactyly
Xiaoli WANG ; Baoxing TIAN ; Shengbo ZHOU ; Shihui LIN ; Xuesong GUO ; Bin WANG
Chinese Journal of Plastic Surgery 2025;41(7):669-673
Objective:To study the clinical outcome of palmar approach to on-top plasty in the treatment of unequal radial polydactyly.Methods:A retrospective analysis was conducted on patients with unequal radial polydactyly in which neither thumb duplicates possess both well-developed proximal and distal components. All the patients underwent palmar approach to on-top plasty between September 2013 and September 2023 at Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine and Shanxi Children’s Hospital. At the final follow-up, the active flexion-extension range of motion of the first metacarpophalangeal and interphalangeal joints was measured, along with grip and pinch strength. The Vancouver scar scale was used to assess scar formation (total score 0-15, with higher scores indicating more severe scarring). Additionally, the pediatric quality of life inventory (total score 0-100, with higher scores indicating better quality of life, evaluated by the children themselves or by their parents/guardians on their behalf) and the satisfaction questionnaire (total score ranges from 1 to 5, with higher scores indicating greater satisfaction) were used to assess the patients’ daily quality of life and parents’satisfaction.Results:A total of 28 pediatric patients were included, comprising 15 males and 13 females, with an average age of 15 months (range: 10-36 months). All cases presented unilateral radial polydactyly, including 18 right hands and 10 left hands. The mean follow-up duration was 4.2 years (range: 1.5-6.0 years). All incisions healed in one stage, and the skin flaps survived well without infection. Joint stability was maintained without any deviation. All reconstructed thumbs demonstrated satisfactory aesthetic appearance. The reconstructed thumbs demonstrated mean active flexion-extension arcs of 76° (range 61°-85°) at the first metacarpophalangeal joint, and 42° (range 21°-65°) at the interphalangeal joint. The grip strength of the hand was 82% (63%-90%) of the normal opposite hand. The key, tip and tripod pinch strength were 76%(66%-83%), 77%(66%-85%) and 79%(68%-87%) of the normal opposite hand, respectively. No scar hyperplasia was found in all cases, and the Vancouver scar scale score was 1.2(0-3) points. The self-assessment score of the children on the pediatric quality of life inventory was 86 points, and the score of the parents/guardians was 91 points. In terms of family satisfaction, 23 patients scored 5, and 5 patients scored 4.Conclusion:The use of palmar approach to on-top plasty to treat unequal radial polydactyly can achieve functional and aesthetic results.
9.Clinical diagnosis and treatment analysis of primary pancreatic signet-ring cell carcinoma
Hongliang LIU ; Kun ZHANG ; Bin ZHOU ; Chuandong SUN ; Lantian TIAN ; Bingsong YAN
Chinese Journal of Hepatobiliary Surgery 2025;31(8):608-611
Objective:To investigate the diagnosis, treatment, and prognosis of primary pancreatic signet-ring cell carcinoma (SRCC).Methods:A retrospective analysis was conducted on clinical data of 11 patients with pathologically confirmed SRCC treated at the Women and Children's Hospital Affiliated to Qingdao University and the Affiliated Hospital of Qingdao University between 2002 and 2024. The cohort included 10 male and 1 female patients, aged (65.6±9.2) years. Data on gender, age, clinical manifestations, biochemical markers, tumor biomarkers, surgical approaches, postoperative pathology, adjuvant the-rapy, and treatment outcomes were recorded. Postoperative survival was assessed via outpatient records and telephone follow-ups.Results:Among the 11 patients, all 10 male patients had a long-term smoking his-tory. Initial symptoms included epigastric pain (5 cases), jaundice (2 cases), postprandial upper abdominal discomfort (3 cases), and persistent hyperglycemia (1 case). Elevated total bilirubin with increased alanine transaminase and aspartate transaminase was observed in 4 cases, while 7 cases had normal liver function. Tumor biomarker profiles showed elevated carcinoembryonic antigen (CEA) alone in 2 cases, elevated carbohydrate antigen 19-9(CA 19-9) alone in 6 cases, concurrent elevation of CEA and CA19-9 in 2 cases, and normal tumor markers in 1 case. Tumor locations included the pancreatic head (8 cases) and pancreatic body/tail (3 cases). All patients underwent radical resection without major perioperative complications. Immunohistochemistry revealed perineural invasion (+ ) in 10 cases and Ki-67 ≥ 50% in 9 cases. Six patients received postoperative adjuvant therapy. The median disease-free survival was 14 months, and the median overall survival was 18 months.Conclusion:SRCC lacks specific clinical manifestations and carries a poor prognosis. Radical surgical resection remains the cornerstone of treatment, while adjuvant therapy may improve survival outcomes.
10.Analysis of a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX) due to a c.443A>G variant of FLNA gene.
Tingting JI ; Jiao LIU ; Yabing ZHANG ; Qimin TIAN ; Bin MAO ; Xiaoling MA
Chinese Journal of Medical Genetics 2025;42(5):603-607
OBJECTIVE:
To explore the genetic etiology for a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX).
METHODS:
A pedigree presented at the First Hospital of Lanzhou University for CVDPX combined with CIIX was selected as the study subject. Whole exome sequencing (Trio-WES) was carried out, and the candidate variant was verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the First Hospital of Lanzhou University (Ethics No. LDYYSZLLKH2024-15).
RESULTS:
Both the proband and his affected younger brother were found to harbor a hemizygous c.443A>G (p.Tyr148Cys) variant of the FLNA gene, for which their mother was heterozygous and their father was not a carrier, suggesting an X-linked recessive inheritance pattern. The variant was not recorded in the OMIM and ClinVar databases, and was determined to be likely pathogenic (PM2+PS4+PP2+PP3) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The patients had presented with typical CVDPX/CIIPX phenotype, including multiple valve dysplasia and chronic pseudo intestinal obstruction, in addition with gallbladder wall edema and thickening. Bioinformatic analysis showed that the variant site is highly conserved, and multiple algorithms had predicted its pathogenicity.
CONCLUSION
This study confirmed the diagnosis of CVDPX/CIIX in a Chinese pedigree, expanded the phenotype spectrum of FLNA gene variants, and provided a basis for genetic counseling and prenatal diagnosis for the pedigree.
Adult
;
Female
;
Humans
;
Male
;
Exome Sequencing
;
Filamins/genetics*
;
Genetic Diseases, X-Linked/genetics*
;
Heart Defects, Congenital/genetics*
;
Heart Valve Diseases/genetics*
;
Pedigree
;
East Asian People/genetics*

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