RESUMEN
Objective: To analyze the clinicopathological features of prostate cancers with BRCA2 pathogenic mutations, and the association between BRCA2 pathogenic mutation and clinicopathological characteristics. Patient survivals were also examined. Methods: Clinicopathological data of 249 prostate cancer patients who underwent genetic testing in West China Hospital of Sichuan University, Chengdu, China from June 2014 to August 2021 were collected. A retrospective analysis of histopathological morphology, clinicopathological characteristics, and patient survivals was conducted. Results: The genetic testing in the 249 prostate cancer patients showed a pathogenic mutation of DNA damage repair gene (DRG) in 73 cases (73/249, 29.3%), including 22 cases (8.8%) with BRCA2 pathogenic mutation and 51 cases with pathogenic mutations of other DRG. Among the 22 patients with BRCA2 pathogenic mutation, 14 patients (5.6%) harbored germline mutations and 8 patients (3.2%) somatic mutations. Their ages ranged from 48 to 91 years, with a median of 67 years. Seventeen patients (77.3%) had distant metastasis, including 16 cases with bone metastasis and 1 case with multiple metastases. Thirteen patients (59.1%) were castration-resistant prostate cancer. The histological type was mainly classical prostatic acinar adenocarcinoma, including 16 cases (72.7%) with intraductal carcinoma of the prostate (IDC-P). Six cases (27.3%) showed focal neuroendocrine differentiation. Perineural/vascular invasion and extraprostatic extension were seen in 11 cases (50.0%) and 8 cases (36.4%), respectively. The Gleason scores of 19 patients (86.4%) were≥8. IDC-P was more commonly found in patients with BRCA2 germline pathogenic mutation than those with BRCA2 somatic pathogenic mutation, other DRG pathogenic mutation or no-DRG pathogenic mutation (P=0.002). With a total follow-up time of 189 months, the median overall survival (OS) was 132.3 months. Patients with DRG pathogenic mutation had shorter OS than those with no-DRG pathogenic mutation (P=0.040). The OS of patients with BRCA2 germline pathogenic mutation did not significantly differ from that of patients with BRCA2 somatic pathogenic mutation, other DRG pathogenic mutation or no-DRG pathogenic mutation (P=0.216). Conclusions: The presence of BRCA2 gene pathogenic mutation is common in the prostate cancers with high Gleason grade, advanced clinical stage, and castration resistance. IDC-P is more commonly noted in cases with BRCA2 germline pathogenic mutation than those without. Patients with DRG pathogenic mutation have shorter OS than those with no-DRG pathogenic mutation, but there is no significant association between BRCA2 pathogenic mutations and OS.
Asunto(s)
Proteína BRCA2 , Mutación , Neoplasias de la Próstata , Humanos , Masculino , Neoplasias de la Próstata/genética , Neoplasias de la Próstata/patología , Proteína BRCA2/genética , Anciano , Estudios Retrospectivos , Persona de Mediana Edad , Pronóstico , Anciano de 80 o más Años , Neoplasias Óseas/genética , Neoplasias Óseas/secundario , Neoplasias Óseas/patologíaAsunto(s)
Quinasa de Linfoma Anaplásico , Carcinoma de Células Renales , Neoplasias Renales , Neoplasias Pulmonares , Humanos , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/secundario , Carcinoma de Células Renales/patología , Neoplasias Pulmonares/secundario , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/genética , Neoplasias Renales/patología , Neoplasias Renales/genética , Quinasa de Linfoma Anaplásico/genética , Quinasa de Linfoma Anaplásico/metabolismo , Proteínas de Fusión Oncogénica/genética , Masculino , Proteínas Tirosina Quinasas Receptoras/genética , Proteínas Tirosina Quinasas Receptoras/metabolismo , Proteínas Cotransportadoras de Sodio-Fosfato de Tipo IIb/genética , Proteínas Cotransportadoras de Sodio-Fosfato de Tipo IIb/metabolismo , Persona de Mediana Edad , Proteínas de Unión a Calmodulina , Proteínas de la Membrana , Proteínas del Tejido NerviosoRESUMEN
We introduce a LabVIEW-based control program that significantly improves the efficiency and flexibility in positioning and shooting solid targets in laser-plasma experiments. The hardware driven by this program incorporates a target positioning subsystem and an imaging subsystem, which enables us to install up to 400 targets for one experimental campaign and precisely adjust them in six freedom degrees. The overall architecture and the working modes of the control program are demonstrated in detail. In addition, we characterized the distributions of target positions of every target holder and simultaneously saved the target images, resulting in a large dataset that can be used to train machine learning models and develop image recognition algorithms. This versatile control system has become an indispensable platform when preparing and conducting laser-plasma experiments.
RESUMEN
The knowledge of physical mechanism of microwave generation in coaxial gyromagnetic nonlinear transmission lines (GNLTLs) is not complete up until now, especially the action of spinwave excitation during this process. In this paper, control experiments on different groups of GNLTLs with a single variable of NiZn ferrite material spinwave linewidth ΔHk are proposed as an indirect way to demonstrate this microscopic process. Comparative analyses of different groups of GNLTL experimental results are conducted to clarify the existence and effect of spinwave excitation. Theoretical treatment of conditions of spinwave excitation in GNLTLs is derived to explain the experimental results. It is illustrated that spinwave can be excited when the synchronism condition between the working frequency of GNLTL and the spinwave frequency spectrum is satisfied. The unstable spinwave excitation will consume the RF energy of GNLTLs heavily and cause a rapid decrease in RF oscillation.
RESUMEN
OBJECTIVE: Surgical management is the mainstay of treatment for tumours in the parapharyngeal space. This study aimed to evaluate the indications, limits and technical nuances of the endoscopic transoral approach. METHOD: Thirteen patients with parapharyngeal space tumours that were treated between May 2017 and November 2020 were included in this retrospective study. RESULTS: All patients underwent surgery for complete oncological resection except one patient who received treatment for diagnostic purposes. No major complications were reported, with excellent control of the vital structures of the parapharyngeal space. CONCLUSION: The endoscopic transoral approach to the parapharyngeal space is a promising alternative approach for selected parapharyngeal space tumours with satisfactory outcomes.
Asunto(s)
Neoplasias , Neoplasias Faríngeas , Humanos , Estudios Retrospectivos , Espacio Parafaríngeo/cirugía , Endoscopía/métodos , Neoplasias Faríngeas/cirugíaRESUMEN
BACKGROUND: The incidence of infections among cancer patients is as high as 23.2-33.2% in China. However, the lack of information and data on the number of antibiotics used by cancer patients is an obstacle to implementing antibiotic management plans. AIM: This study aimed to investigate bacterial infections and antibiotic resistance in Chinese cancer patients to provide a reference for the rational use of antibiotics. DESIGN: This was a 5-year retrospective study on the antibiotic resistance of cancer patients. METHODS: In this 5-year surveillance study, we collected bacterial and antibiotic resistance data from 20 provincial cancer diagnosis and treatment centers and three specialized cancer hospitals in China. We analyzed the resistance of common bacteria to antibiotics, compared to common clinical drug-resistant bacteria, evaluated the evolution of critical drug-resistant bacteria and conducted data analysis. FINDINGS: Between 2016 and 2020, 216â219 bacterial strains were clinically isolated. The resistance trend of Escherichia coli and Klebsiella pneumoniae to amikacin, ciprofloxacin, cefotaxime, piperacillin/tazobactam and imipenem was relatively stable and did not significantly increase over time. The resistance of Pseudomonas aeruginosa strains to all antibiotics tested, including imipenem and meropenem, decreased over time. In contrast, the resistance of Acinetobacter baumannii strains to carbapenems increased from 4.7% to 14.7%. Methicillin-resistant Staphylococcus aureus (MRSA) significantly decreased from 65.2% in 2016 to 48.9% in 2020. CONCLUSIONS: The bacterial prevalence and antibiotic resistance rates of E. coli, K. pneumoniae, P. aeruginosa, A. baumannii, S. aureus and MRSA were significantly lower than the national average.
Asunto(s)
Staphylococcus aureus Resistente a Meticilina , Neoplasias , Humanos , Staphylococcus aureus , Escherichia coli , Estudios Retrospectivos , Pacientes Internos , Pruebas de Sensibilidad Microbiana , Antibacterianos/farmacología , Antibacterianos/uso terapéutico , Bacterias , Farmacorresistencia Bacteriana , Pseudomonas aeruginosa , Imipenem , China/epidemiología , Klebsiella pneumoniae , Neoplasias/complicaciones , Neoplasias/epidemiología , Neoplasias/tratamiento farmacológicoRESUMEN
Objective: To investigate the clinical features of children with chronic nonbacterial osteomyelitis (CNO), and raise awareness among clinicians. Methods: In this retrospective study, 18 patients with CNO who were diagnosed in Children's Hospital of Fudan University from January 2015 to December 2021 were included. Results: Eighteen children with CNO (12 males, 6 females) were identified. Their age at onset was 9 (5, 11) years, the delay in diagnosis was 2 (1, 6) months, and follow-up-was 17 (8, 34) months. The most common symptoms were fever in 14 children, as well as bone pain and (or) arthralgia in 14 children. In terms of laboratory results, normal white blood cell counts were observed at onset in 17 patients; increased erythrocyte sedimentation rate (ESR) in all patients; increased C reactive protein (CRP) over the normal value in 14 patients. Of the 18 patients, 2 had positive antinuclear antibodies, while none had positive human leukocyte antigen-B27 or rheumatoid factor. Imaging examination revealed that all the patients had symmetrical and multifocal skeletal lesions. The number of structural lesions detected by imaging investigation was 8 (6, 11). The most frequently affected bones were tibia in 18 patients and femur in 17 patients. Bone biopsy was conducted in 14 patients and acute or chronic osteomyelitis manifested with inflammatory cells infiltration were detected. Magnetic resonance imaging (MRI) found bone lesions in all the patients and bone scintigraphy were positive in 13 patients. All the patients were treated with nonsteroidal anti-inflammatory drugs, among whom 10 cases also treated with oral glucocorticoids, 9 cases with traditional disease modifying anti-rheumatic drugs, 8 cases with bisphosphonates and 6 cases with tumor necrosis factor inhibitors. The pediatric chronic nonbacterial osteomyelitis disease activity score, increased by 70% or more in 13 patients within the initial 6-month follow-up. Conclusions: The clinical manifestations of CNO are lack of specificity. The first symptom of CNO is fever, with or without bone pain and (or) arthralgia, with normal peripheral blood leukocytes, elevated CRP and (or) ESR. Whole body bone scanning combined with MRI can early detect osteomyelitis at subclinical sites, and improve the diagnostic rate of CNO.
Asunto(s)
Enfermedad Injerto contra Huésped , Osteomielitis , Femenino , Masculino , Humanos , Niño , Estudios Retrospectivos , Osteomielitis/diagnóstico , Osteomielitis/tratamiento farmacológico , Artralgia , Difosfonatos , FiebreRESUMEN
Objective: To analyze the genotypes and clinical phenotypes of patients with epilepsy associated with IQSEC2 gene variants. Methods: The genotypes, seizure types, electroencephalogram, neuroimage of 6 patients with IQSEC2 gene variants in the Department of Pediatrics, Peking University First Hospital from July 2019 to October 2021 were analyzed. Results: There were 5 males and 1 female. Six variants were de novo, including 2 frameshift variants (c.3801_3808dup/p.Q1270Rfs*130, c.1459_1460delAT/p.M487Vfs*2), 2 nonsense variants (c.3163C>T/p.R1055*, c.1417G>T/p.E473*), 1 in-frame deletion (c.2295_2297del/p.N765del) and 1 missense variant (c.2293A>G/p.N765D). Age at seizure onset ranged from 3 months to 2 years and 5 months. Multiple seizure types were observed, including epileptic spasms in 5 patients, focal seizures in 5 patients, tonic seizures in 3 patients, myoclonic seizures in 3 patients, atypical absence seizures in 2 patients and atonic seizures in 2 patients. All 6 patients showed global developmental delay before seizure onset. There were other clinical manifestations, including autistic features in 3 patients, microcephaly in 3 patients, dystonia in 2 patients and binocular esotropia in 1 patient. The electroencephalogram showed slow background activity and hypsarrhythmia in all 6 patients. Brain magnetic resonance imaging showed abnormal in 5 patients and normal in 1 patient. Five patients were diagnosed with infantile spasms. Among them, 4 patients had late-onset infantile spasms. One patient was unclassified developmental epileptic encephalopathy. The age of last follow-up ranged from 3 years and 2 months to 7 years and 2 months. All 6 patients still had seizures after multiple anti-seizure medications. Conclusions: The seizure onset of patients with IQSEC2 gene variants usually begins after 1 year of age. The common seizure types include epileptic spasms and focal seizures. Patients usually have a global developmental delay before seizure onset. IQSEC2 variants could be related to developmental and epileptic encephalopathy, and most patients are diagnosed with late onset infantile spasms. Epilepsy associated with IQSEC2 gene variants is usually refractory.
Asunto(s)
Epilepsia , Espasmos Infantiles , Femenino , Masculino , Niño , Humanos , Espasmos Infantiles/genética , Genotipo , Fenotipo , Epilepsia/genética , Convulsiones , Espasmo , Factores de Intercambio de Guanina NucleótidoRESUMEN
Objective: To explore the therapeutic effect and contributing factors of pedicle nasoseptal flap in endoscopic nasopharyngectomy for recurrent nasopharyngeal carcinoma. Methods: Thirty-nine patients with recurrent nasopharyngeal carcinoma admitted to the Eye, Ear, Nose and Throat Hospital of Fudan University from July 2016 to July 2019 were reviewed, with 19 males and 20 females, aging from 30 to 75 years old. All patients underwent endoscopic nasopharyngectomy, followed by reconstruction with the pedicle nasoseptal flap. The methods of preoperative assessment, mucosal flap preparation and nasopharyngeal reconstruction were summarized, and factors affecting the survival of the pedicle nasoseptal flap were discussed. The rates between groups were compared by Fisher's exact test. Results: Ipsilateral mucosal flap was used in 19 cases while contralateral mucosal flap in 20 cases. After the operation, there were 33 cases with complete epithelialization and 6 cases with flap necrosis. Univariate analysis suggested that the number of radiotherapy courses was an important factor affecting the survival of flap (OR=7.429, 95%CI: 1.120-49.270, P=0.042). However, gender, age, type of transnasal endoscopic nasopharyngectomy, osteonecrosis, side of flap and internal carotid artery resection had no influence on flap survival (all P>0.05). All patients were followed-up for 24 to 60 months. Among them, 8 patients had local recurrence and then operated again, 4 patients survived with systemic metastases and 2 patients died. Conclusion: The pedicle nasoseptal flap is a good material for reconstruction for endoscopic nasopharyngectomy, but it is less effective for patients with multiple course radiotherapy.
Asunto(s)
Procedimientos Quírurgicos Nasales , Carcinoma Nasofaríngeo , Neoplasias Nasofaríngeas , Recurrencia Local de Neoplasia , Faringectomía , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Procedimientos Quírurgicos Nasales/métodos , Carcinoma Nasofaríngeo/patología , Carcinoma Nasofaríngeo/cirugía , Neoplasias Nasofaríngeas/patología , Neoplasias Nasofaríngeas/cirugía , Faringectomía/métodos , Colgajos Quirúrgicos , Recurrencia Local de Neoplasia/cirugía , Resultado del Tratamiento , EndoscopíaRESUMEN
Objective: To summarize the application of temporalis muscle flap in the salvage nasopharyngectomy for advanced recurrent nasopharyngeal carcinoma (rNPC), and to provide guidance for the repair of extensive skull base defects in salvage rNPC. Methods: A total of 54 patients with the application of temporalis muscle flap in the salvage nasopharyngectomy for advanced rNPC were retrospectively analyzed, including 42 males and 12 females, aging from 29 to 71 years. There were 36 patients with rT3 and 18 patients with rT4. The surgical methods of temporalis muscle flap repair were summarized. The general situation, survival time and postoperative complications of patients were recorded, and the advantages and disadvantages of temporalis muscle flap were discussed. Results: The temporal muscle flap could completely cover the defect area of nasopharynx and skull base, without the need for other autologous repair materials. The follow-up period was 2 to 28 months. The survival rate of temporalis flap was 98.1% (53/54). The 1-year overall survival rate was 84.5% while 1-year progression-free survival rate was 49.0%. None of the patients had facial nerve injury. Three patients (5.6%) had necrosis of the cranial membrane required surgical intervention and four patients (7.4%) required a chonoplasty due to severe chonostril stenosis or chonostril atresia. Eleven cases (20.4%) had mouth opening restriction, chewing weakness, dysphagia and other eating difficulties. Conclusions: Temporalis muscle flap is an alternative flap for the salvage nasopharyngectomy for advanced rNPC. Temporal muscle flap shows high survival rate and wide coverage, but the surgeon should apprehend the possible complications and reduce the occurrence of them.
Asunto(s)
Neoplasias Nasofaríngeas , Colgajos Quirúrgicos , Humanos , Masculino , Femenino , Carcinoma Nasofaríngeo , Estudios Retrospectivos , Neoplasias Nasofaríngeas/cirugía , Neoplasias Nasofaríngeas/patología , Músculos/patologíaRESUMEN
Objective: To evaluate the efficiency of internal carotid artery (ICA) embolization technology in endoscopic salvage surgery for recurrent nasopharyngeal carcinoma (rNPC) invading the ICA. Methods: From January 2016 to March 2021, 83 patients with rNPC who invaded the ICA and underwent endoscopic extended nasopharyngectomy were retrospectively collected from the Eye & ENT Hospital in Fudan University, including 60 males and 23 females. The age of the patients ranged from 27 to 77 years. The standard of ICA invasion was that the distance from the lesion to the ICA on enhanced MRI was ≤ 1.8 mm. The clinical characteristics, ICA management strategy and survival prognosis of patients were analyzed, and the effectiveness of ICA embolization was evaluated. Kaplan-Meier method was used to calculate the survival rate and Log-rank test was used to compare the difference. Results: In 83 patients with rNPC, there were 13 patients with rT2, 38 patients with rT3, 32 patients with rT4, and 16 patients had lymph node metastasis. A total of 37 patients (44.6%) underwent ICA coil embolization before surgery, of which 2 cases underwent external carotid-middle cerebral artery artery bypass grafting and ICA embolization due to positive balloon occlusion test (BOT). Patients with positive surgical margin accounted for 24.1% (20/83). Among them, patients with rT4 and patients without ICA embolization had a higher positive rate of surgical margin (P value was 0.001, 0.043, respectively). The 3-year overall survival (OS) and progression free survival (PFS) rate of all patients was 46.5% and 26.7%, respectively. In addition, the 3-year OS and PFS of patients with ICA embolization was significantly higher than those without ICA embolization, respectively (69.1% vs 27.8%, P=0.003; 33.9% vs 18.9%, P=0.018). Only 2 patients (2/37, 5.4%) had cerebral infarction complications after coil embolization of the affected ICA due to negative BOT. Conclusion: Preoperative ICA embolization can be used to treat patients with rNPC invading the ICA, improve the total removal rate and survival rate of patients, which is an effective salvage treatment.
Asunto(s)
Neoplasias Nasofaríngeas , Terapia Recuperativa , Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Carcinoma Nasofaríngeo , Estudios Retrospectivos , Arteria Carótida Interna , Recurrencia Local de Neoplasia/cirugía , Neoplasias Nasofaríngeas/patologíaRESUMEN
OBJECTIVES: The relationship between maternal alcohol consumption and postpartum depression (PPD) is still controversial. The objective of the present study was to assess the association between maternal alcohol consumption and the risk of developing PPD by means of a meta-analysis of cohort studies. STUDY DESIGN: This was a meta-analysis. METHODS: PubMed, Web of Science, Embase, Cochrane Library, China Biology Medicine disc, Chinese National Knowledge Infrastructure, Weipu, and Wanfang databases were searched up to February 4, 2021, to identify relevant studies that evaluated the association between maternal alcohol consumption and PPD. Meta-analysis was conducted using RevMan software and Stata software. Subgroup and sensitivity analyses were performed to explore the potential heterogeneity source, and Begg's funnel plots and Begg's linear regression test were conducted to assess the potential publication bias. RESULTS: A total of 12 studies involving 50,377 participants were identified in our study. Overall, pregnant women who were exposed to alcohol were at a significantly greater risk of developing PPD compared with those who did not consume alcohol (odds ratio = 1.21; 95% confidence interval: 1.04-1.41; P = 0.020). CONCLUSIONS: Maternal alcohol consumption is significantly associated with the risk of developing PPD. These results emphasize the necessity of enhancing health awareness, improving the public health policies and regulations concerning alcohol use, and strengthening the prevention and intervention of maternal alcohol consumption to promote maternal mental health.
Asunto(s)
Consumo de Bebidas Alcohólicas , Política Pública , Embarazo , Femenino , Humanos , China , Consumo de Bebidas Alcohólicas/efectos adversos , Consumo de Bebidas Alcohólicas/epidemiología , Estudios de CohortesRESUMEN
Objective: To investigate the feasibility of endoscopic salvage surgery for patients with rT2 recurrent nasopharyngeal carcinoma (rNPC) and to analyze their prognostic factors. Methods: The clinical data of 33 patients with rT2 rNPC who underwent endoscopic extended nasopharyngectomy in Eye & ENT Hospital Affiliated to Fudan University from January 2015 to July 2020 were analyzed, including 29 males (87.9%) and 4 females (12.1%), aging (51.7±10.6) years. The clinicopathological characteristics of these patients were recorded and analyzed, in terms of gender, sex, alcohol and cigarette use, interval between primary treatment to recurrence, adjuvant therapy, lymph node metastasis, internal carotid artery (ICA) invasion, necrosis, margin and reconstruction materials. Kaplan Meier analysis was used to plot the overall survival rate and progression free survival rate curve, Log-rank test was used to analyze the prognostic factors among patients, and multivariate Cox proportional hazards regression was used to determine the independent risk factors of tumor progression free survival. Results: Among 33 patients with rT2 rNPC, the recurrence interval of 24 patients with rNPC after primary radiotherapy was more than 2 years. A total of 25 patients received primary radiotherapy and adjuvant chemotherapy at the same time. There were 6 cases with cervical lymph node metastasis, 12 cases with ICA invasion, 8 cases with positive surgical margin, 7 cases underwent ICA embolization before operation. A total of 18 cases underwent pedicled tissue flap repairment after operation, including 12 pedicled nasal septal mucosa flaps and 6 temporalis muscle flaps. The median follow-up time was 15 months. Five patients died because of disease progression (in 2 cases), post surgical ICA hemorrhage (in 1 case), liver metastasis (in 1 case) and dysphagia (in 1 case). The 1-year, 2-year and 3-year overall survival rates of all patients were 93.9%, 81.8% and 81.8%, respectively. The 1-year, 2-year and 3-year progression free survival rates were 74.7%, 59.7% and 40.9%, respectively. Log-rank statistical analysis showed that the positive surgical margin (P=0.060) and recurrence interval (P=0.151) were possibly related to the prognosis of rT2 rNPC. Multivariate Cox regression analysis showed that the positive surgical margin was an independent risk factor for patients with rT2 rNPC (P=0.034). Nasopharynx hemorrhage occurred in 4 patients, skull base bone necrosis occurred in 2 patients, trismus occurred in 3 patients, and no obvious brain complications occurred in 7 patients with ICA embolization. Conclusion: Endoscopic salvage surgery for rT2 rNPC is a safe and effective surgical option, but the long-term effect still needs long-term follow-up in bulk cases.
Asunto(s)
Carcinoma , Neoplasias Nasofaríngeas , Masculino , Femenino , Humanos , Carcinoma Nasofaríngeo/cirugía , Carcinoma/cirugía , Neoplasias Nasofaríngeas/cirugía , Neoplasias Nasofaríngeas/patología , Metástasis Linfática , Márgenes de Escisión , Recurrencia Local de Neoplasia/cirugía , Pronóstico , Terapia Recuperativa , Estudios RetrospectivosRESUMEN
The diagnosis and treatment of a local case with alveolar echinococcosis was presented. Based on clinical data and epidemiological surveys, this is a rare, local case with alveolar echinococcosis in Nanzhang County, suggesting the possibility of local transmission of echinococcosis. The prevention, control and surveillance of echinococcosis requires to be reinforced in nonendemic areas.
Asunto(s)
Equinococosis , Equinococosis/diagnóstico , Equinococosis/epidemiología , Humanos , Encuestas y CuestionariosRESUMEN
Objective: To analyze the cystic fibrosis transmembrane conductance regulator (CFTR) gene variations and phenotypes in 7 Chinese children. Methods: In this retrospective study, the data of 7 children with CFTR gene variations admitted to Children's Hospital of Chongqing Medical University from December 2013 to October 2020 were extracted. The general information, clinical manifestations, gene variations, diagnosis and treatment were summarized. Results: Among the 7 children, 2 were males and 5 were females, aged 5.2(0.5-11.3) years. Main clinical manifestations included malnutrition (5 cases), recurrent respiratory infection (4 cases), bronchiectasis (3 cases), steatorrhea (3 cases), vomiting in infancy (2 cases), liver cirrhosis (2 cases), meconium ileus (1 case), metabolic alkalosis and hypochloremia (1 case). A total of 15 variations were found by whole exon sequencing and Sanger sequencing, among which 3 were newly discovered, and 7 were missense mutations. Four children were diagnosed as CF, and the other 3 were diagnosed as CFTR related disease (CFTR-RD). Compared with CF patients, the pancreatic insufficiency and typical CF lung disease were relatively mild in CFTR-RD patients. After treatment, 6 children were clinically improved, while the rest one withdrew treatment due to critical pulmonary infection and disturbance of water-electrolyte metabolism. Conclusions: The loci and phenotypes of CFTR gene variants vary hugely and the pathogenicity of some variations are not clear. Whole exon sequencing can facilitate the identification of CF-and CFTR-RD-causing variaions. For the cases not compatible with CF, CFTR-RD should be considered and evaluated by timely gene detection, so as to carry out appropriate long term management.