One of its primary surgical treatments of tricuspid regurgitation is tricuspid valve biological valve replacement. Catheter tricuspid valve-in-valve implantation is a novel interventional alternative for biological valve failure. The non-invasive lung fluid measuring device remote dielectric sensing (ReDSTM) has been increasingly incorporated into clinical practice as a means of monitoring chronic heart failure in recent years. This report describes the process and outcomes of the first instance of perioperative lung fluid volume evaluation following transcatheter tricuspid valve implantation utilizing ReDSTM technology. The patient has a short-term, substantial increase in postoperative lung fluid volume as compared to baseline.

After two decades of development, transcatheter left atrial appendage closure has emerged as a safe and effective intervention for stroke prevention in patients with atrial fibrillation. In 2024, significant advancements were made in the field of left atrial appendage closure in terms of evidence-based medicine, device research and development, and guideline consensus. The annual report on transcatheter left atrial appendage closure systematically reviews global academic progress in 2024, encompassing newly published clinical evidence, recently developed occlusion devices, and updated international guidelines/consensus statements. In the future, the development direction of transcatheter left atrial appendage closure mainly includes expanding surgical indications, optimizing imaging assistance technology, improving closure device design, and exploring individualized strategies for postoperative antithrombotic therapy.

Following the principles of evidence-based medicine,in accordance with the structure and drafting rules of standardized documents,based on literature research,according to the characteristics of chronic cough in children and issues that need to form a consensus,the TCM Guidelines for Diagnosis and Treatment of Chronic Cough in Children was formulated based on the Delphi method,expert discussion meetings,and public solicitation of opinions.The guideline includes scope of application,terms and definitions,eti-ology and diagnosis,auxiliary examination,treatment,prevention and care.The aim is to clarify the optimal treatment plan of Chinese medicine in the diagnosis and treatment of this disease,and to provide guidance for improving the clinical diagnosis and treatment of chronic cough in children with Chinese medicine.

OBJECTIVE: To explore the genotype-phenotype correlation of a Chinese pedigree affected with Lowe syndrome. METHODS: Whole exome sequencing (WES) and Sanger sequencing were carried out for the proband and members of his pedigree. RESULTS: The proband, a 3-year-and-5-month-old male, presented with multiple anomalies including congenital cataract, glaucoma, brain dysplasia, renal dysfunction and cognitive impairment. WES revealed that he has harbored a novel hemizygous missense variant of the OCRL gene, namely NM_000276.3: c.1255T>C (p.Trp419Arg) (GRCh37/hg19), which was derived from his unaffected mother. The same variant was not found in his elder brother who was healthy. The variant was predicted to be pathogenic according to ACMG/AMP guideline. Compared with previously reported cases of Lowe syndrome, our patient has displayed rare features including corpus callosum dysplasia, reduction of white matter, cerebral hypoplasia, laryngomalacia, sebaceous cyst, recurrent eczema, cryptorchidism, hypoglycemia and irritability. CONCLUSION Above finding has expanded the mutational spectrum of the OCRL gene, enriched clinical features of Lowe syndrome, and enabled genetic counseling for this pedigree.
Aged ; China ; Genetic Association Studies ; Humans ; Infant ; Male ; Mutation ; Oculocerebrorenal Syndrome ; Pedigree ; Phosphoric Monoester Hydrolases/genetics* ; Whole Exome Sequencing

OBJECTIVE: To explore the genetic basis for a child featuring complex cortical dysplasia and other brain malformations (CDCBM3). METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out for the family trio. Suspected variant was verified by Sanger sequencing. RESULTS: The proband, a 1-year-and-2-month old Chinese boy, had presented with motor developmental delay, lissencephaly, severe cognitive impairments, absent speech and congenital laryngomalacia. WES revealed that he has harbored a heterozygous missense variant of the KIF2A gene, namely NM_001098511.2: c.952G>A, p.Gly318Arg (GRCh37/hg19). The highly conserved residue is located around the ATP nucleotide-binding pocket in the kinesin motor domain (PM1). The variant was not found in the Genome Aggregation Database and the 1000 Genomes Project (PM2), and was predicted to be deleterious on the gene product by multiple in silico prediction tools (PP3). This variant was unreported previously and was de novo in origin (PS2). Based on the ACMG guidelines, it was categorized as likely pathogenic (PS2+PM1+PM2+PP3). Furthermore, the congenital laryngomalacia found in our patient was absent in previously reported CDCBM3 cases. CONCLUSION The novel variant of the KIF2A gene probably underlay the disorders in the proband. Above finding has expanded the phenotypic and mutational spectrum of CDCBM3.
Asians/genetics* ; Brain ; China ; Humans ; Infant ; Kinesins/genetics* ; Male ; Malformations of Cortical Development/genetics* ; Whole Exome Sequencing

OBJECTIVE: To explore the genotype-phenotype correlation of a case with GM1-gangliosidosis caused by compound heterogenic variants in GLB1. METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Trio-based whole-exome sequencing (WES) was performed for the family and suspected mutation was verified by Sanger sequencing. RESULTS: The proband, a 2-year-3-month old Chinese girl, presented with psychomotor deterioration, absent speech, intellectual disabilities and behavior problem. Trio-based WES has identified compound heterozygosity for 2 variants in the GLB1 gene: NM_000404.2:c.1343A>T, p.Asp448Val and c.1064A>C, p.Gln355Pro (GRCh37/hg19),which was inherited from the mother and father, respectively. Homozygous or compound heterozygous pathogenic variants in GLB1, encoding β-galactosidase, are responsible for GM1-gangliosidosis,an autosomal recessive lysosomal storage disorder characterized by variable degrees of neurodegeneration and skeletal abnormalities. The p.Asp448Val variant has been classified as pathogenic for GM1 gangliosidosis in medical literatures for the reason that functional studies demonstrated that expression of the p.Asp448Val variant in COS-1 cells resulted in no detectable β-galactosidase activity compared to wild type GLB1. The p.Gln355Pro variant has not been reported in literatures or database. The variant is highly conserved residue (PM1), and was not found in either the Genome Aggregation Database or the 1000 Genomes Project (PM2) and was predicted to have a deleterious effect on the gene product by multiple in silico prediction tools (PP3). Next, the β-galactosidase activity of the patient's peripheral blood leukocytes was determined by fluorescent method. The result was 0.0 nmol/mg. It showed that the p.Gln355Pro variant also resulted in loss of β-galactosidase activity, thus the variant was classified into clinical pathogenic variant. CONCLUSION Our study expands the mutational spectrum of the GLB1 gene and provides genetic counseling for the family.
Asians/genetics* ; China ; Female ; G(M1) Ganglioside ; Gangliosidosis, GM1/genetics* ; Humans ; Mutation ; beta-Galactosidase/genetics*

Tricuspid regurgitation (TR) interventions are under rapid development. The K-Clip? system is the first domestic transcatheter tricuspid annuloplasty system with unique clamping procedure to achieve annular reduction.Intraoperative echocardiographic monitoring procedures for transcatheter tricuspid annuloplasty have not been reported yet in China. Thus, this review aimed to propose the standard two-dimensional and three-dimensional transesophageal echocardiographic workplanes and procedures to guide and monitor the implantation of K-Clip system based on our experience in Zhongshan Hospital, Fudan University to provide a reference point for the intraoperative echocardiographic monitoring of future transcatheter tricuspid annuloplasty devices in China.

Objective:To explore the prognosis and treatment experience of fetal/neonatal ovarian cyst.Methods:Clinical data of 35 cases of fetal/neonatal ovarian cyst (38 ovarian cysts) admitted to Guangdong Women and Children Hospital from June 2014 to December 2019 were retrospectively collected, including the cyst size before and after birth, ultrasonic features, intraoperative conditions, and pathology. According to the ultrasonic features at the first prenatal detection, the ovarian cysts were divided into two groups: simple cyst group (25 cysts) and complex cyst group (13 cysts). Two independent samples t-test and Fisher exact test were used to compare the characteristics of cysts between the two groups. The outcomes and treatment experience were summarized. Results:(1) The ratio of intraoperative torsion in the complex cysts group was higher than that in the simple cysts group [10/13 vs 32% (8/25), Fisher exact test, P<0.05]. (2) Twenty-five simple cysts were found on the first prenatal ultrasound scan, and 32% (8/25) of them eventually transformed into complex cysts. Among these eight cysts, the maximum diameter of five cysts was >4 cm before the transformation. (3) Postnatal ultrasound found one cyst regressed spontaneously and among the remaining 37 cysts, simple and complex type cysts were accounted for 16 and 21, respectively. Among the complex type cysts, 90% (19/21) were consistent with prenatal ultrasound. (4) Out of the 21 complicated cysts, 19 were surgically removed; the remaining two cysts (maximum diameter <3 cm) were observed conservatively and disappeared spontaneously within one year. During the operation, 81% (17/21) of the complicated cysts were found with torsion and 24% (5/21) with ovarian loss. Conclusions:Simple cysts can transform into complex cysts, especially the biggest diameter >4 cm. Complex fetal/neonatal ovarian cysts indicated by ultrasonography were more prone to torsion, which required postnatal operation.

Objective    To evaluate the efficiency and safety of intraprocedural valve-in-valve deployment for treatment of aortic regurgitation following transcatheter aortic valve replacement (TAVR). Methods    Consecutive patients (n=333) who diagnosed with severe aortic stenosis and underwent TAVR in Zhongshan Hospital affiliated to Fudan University from October 3rd, 2010 to April 21st, 2021 were included. There were 208 males and 125 females aged 76.0±7.0 years. There were 316 patients underwent simple TAVR (simple TAVR group) and 17 patients underwent intraprocedural valve-in-valve deployment following TAVR (valve-in-valve group). Their clinical and echocardiographic outcomes were evaluated and compared. Results    There was no significant difference between the two groups of patients at postoperative 30 d and 1 year in all-cause mortality (4.4% vs. 0, P=1.000; 6.3% vs. 0, P=1.000), incidence of pacemaker implantation (10.4% vs. 17.6%, P=1.000; 11.8% vs. 17.6%, P=1.000), incidence of ischemic stroke (1.3% vs. 0, P=1.000; 1.3%  vs. 0, P=1.000), mean trans-aortic pressure gradient (11.4±6.4 mm Hg vs. 8.9±4.9 mm Hg, P=0.099; 10.5±7.6 mm Hg vs. 11.2±5.2 mm Hg, P=0.432), left ventricular ejection fraction (62.0%±9.0% vs. 57.0%±12.0%, P=0.189; 63.0%±7.0% vs. 60.0%±8.0%, P=0.170), and incidence of mitral valve dysfunction (0.6% vs. 5.9%, P=1.000; 0.6% vs. 5.9%, P=1.000). Conclusion    It is feasible to treat perivalvular leakage with valve-in-valve technology in the procedure of TAVR, and the short and medium-term effects are satisfied.

Objective:To analyze the epidemiological and clinical characteristics of imported COVID-19 cases after SARS-CoV-2 vaccination and to provide evidence for the prevention and control of COVID-19.Methods:The imported COVID-19 cases in Chengdu as of April 15, 2021 were divided into the vaccinated group and unvaccinated group according to the history of SARS-CoV-2 vaccination. The epidemiological and clinical data of the cases were collected retrospectively, and the differences in epidemiological and clinical characteristics of the two groups were compared. Laboratory tests consisted of nucleic acid test, clinical index test, serum antibody test and lymphocyte test. Software WPS2019 was used for data management and software R 4.0.3 was used for statistical analysis.Results:A total of 75 COVID-19 cases were included in the analysis, in which 20 had received SARS-CoV-2 vaccination and only 4 with clinical symptoms, 55 patients did not receive SARS-CoV-2 vaccination, and 16 had clinical symptoms. In vaccinated group, the first injection time of vaccination ranged from July to November 2020, and 10 cases received two doses of vaccine simultaneously and 10 cases received two doses of vaccine at intervals of 14-57 days. The intervals between the completion of vaccination and the onset ranged from 87 days to 224 days. The differences in classification and clinical type between the two groups were significant. Significant differences were observed in case classification and clinical type between vaccinated group and unvaccinated group ( P<0.05). The vaccinated group had a relatively high proportion of asymptomatic infections (40.00%, 8/20), while mild infections were mainly observed in the unvaccinated group(76.36%,42/55). The differences in Ct values (ORF1ab gene and N gene) at the diagnosis were not significant between vaccinated group and unvaccinated group ( P>0.05), similar results were also observed in lymphocyte subtypes, procalcitonin and C-reactive protein level comparisons. Serum amyloid A level was higher in unvaccinated group than in vaccinated group ( P<0.05). However, the SARS-CoV-2 related serum antibody of IgM, IgG and total antibody levels were significantly higher in vaccinated group ( P<0.05). Conclusions:Risk of infection still exists with SARS-CoV-2 after vaccination, which can facilitate the production of specific serum antibody of IgM and IgG when people are exposed to the virus. It has a certain protective effect on SARS-CoV-2 infected persons. Vaccination can reduce the clinical symptoms and mitigate disease severity.