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@#Objective To analyze the perioperative safety and the short-term prognosis of non-small cell lung cancer (NSCLC) patients with preoperative arrhythmia. Methods The clinical data of NSCLC patients treated in the Department of Cardiothoracic Surgery, the First Affiliated Hospital of Chongqing Medical University from August 2020 to March 2021 were collected and observed. The patients were divided into an arrhythmia group and a control group according to whether there was arrhythmia in the 24 h ambulatory electrocardiogram examination report before operation. The incidence of intraoperative and postoperative cardiovascular events and short-term prognosis were compared between the two groups. Results A total of 466 patients were included in this study, including 338 patients in the arrhythmia group, 176 males and 162 females, with a median age of 68.0 (63.0, 72.0) years, and 128 patients in the control group, 59 males and 69 females, with a median age of 66.5 (60.0, 72.0) years. A total of 26 patients (7.7%) in the arrhythmia group were placed with temporary pacemakers before operation. There was no significant difference in the incidence of cardiovascular related events between the two groups [100 (29.6%) vs. 28 (21.9%), P=0.096]. The incidence of postoperative arrhythmia events in the arrhythmia group was higher than that in the control group [112 (33.1%) vs. 11 (8.6%), P<0.001]. The average postoperative ICU stay in the arrhythmia group was longer than that in the control group (1.1±0.7 d vs. 1.0±0.6 d, P=0.039). Conclusion Preoperative arrhythmia does not increase the risk of intraoperative cardiovascular events in NSCLC patients, but increases the incidence of postoperative arrhythmia events and prolongs ICU stay.
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Objective:To seek any correlation between and prognosis and hospitalization costs of stroke survivors with dysphagia.Methods:The records of 1370 stroke survivors admitted to the rehabilitation departments of 3 public hospitals in Weifang were studied. Of them, 499 (36.4%) were diagnosed with dysphagia and 871 were not. Binary logistic regression and multiple linear regression were employed to analyze the correlation between dysphagia and the occurrence of pneumonia, modified Rankin Scale (mRS) scores, modified Barthel index (MBI) scores, length of stay and total hospitalization cost.Results:After adjusting for confounding factors, the risk of pneumonia in the dysphagia group was 2.4 times higher. At discharge, the risk of an mRS≥3 was 3.3 times greater and that of an MBI score <60 was 1.7 times greater with dysphagia. Multiple stepwise linear regression showed that dysphagia was significantly associated with higher mRS scores at discharge, lower MBI scores, and longer hospital stays. The standardized regression coefficients predict that after the length of stay, dysphagia is the strongest predictor of the cost of hospitalisation, followed by ADL ability, pneumonia, supratentorial, haemorrhagic stroke and CCI.Conclusions:Dysphagia is a significant predictor of the hospitalization costs of stroke patients. It is recommended to identify and treat dysphagia as early as possible to improve the prognosis of such patients and reduce the economic burden.
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At present, the heart of donor from donation after brain death are the primary organ sources for heart transplantation. After brain death, severe hemodynamic changes and a series of organ functional changes will occur, thereby leading to the functional damage or even loss of tissues and organs, especially the heart. Intimate relationship and interaction have been found in the physiology and pathophysiology between nervous and cardiovascular systems. After stroke, autonomic nervous disorder, neuroendocrine disorder and intense and persistent inflammatory reaction could be caused by the brain-heart axis reaction, leading to stroke-induced cardiac injuries, such as sympathetic storm, catecholamine storm, inflammatory storm, etc. In this article, research progresses on the mechanism of myocardial injury in heart from donors with stroke and the effect on clinical efficacy and prognosis after heart transplantation were reviewed, aiming to provide reference for clinical practice and subsequent research.
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Objective:To study the effects of plan-do-check-action (PDCA) cycle in quality improvement of neonatal resuscitation.Methods:From 2016 to 2020, the clinical data of neonates born in our hospital were analyzed. Neonates born during 2016 to 2017 were pre-PDCA group and neonates born during 2018 to 2020 were post-PDCA group. PDCA quality improvement included step-by-step, high-frequency and low-dose training, strengthening teamwork and adding equipment.Results:A total of 7 728 live-birth neonates were delivered before PDCA with 319 cases (4.1%) of asphyxia. 10 174 live-birth neonates were delivered after PDCA with 422 cases (4.1%) of asphyxia. The asphyxia rates showed no significant difference between the two groups ( P>0.05). The incidences of severe asphyxia before and after PDCA were both 0.8% without significant difference ( P>0.05). The success rates of resuscitation for severe asphyxia before and after PDCA was 27.9% and 44.9%, respectively, and the differences were statistically significant ( P<0.05). The mortality rates within 7 d before and after PDCA were 0.5‰ and 0.1‰ respectively, without significant differences ( P>0.05). Conclusions:The implementation of PDCA cycle and step-by-step, high-frequency, low-dose neonatal resuscitation training can effectively improve the success rate of resuscitation in newborns with severe asphyxia.
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Objective:To evaluate the effect of Tongbu Qijing Acupuncture combined with metformin hydrochloride tablet on polycystic ovary syndrome (PCOS) combined with insulin resistance (IR) of kidney-deficiency phlegm dampness type.Methods:Randomized controlled trial. 84 patients with PCOS and IR in the hospital were enrolled as the observation objects between November 2019 and November 2021. According to random number table method, they were divided into observation group (Tongbu Qijing Acupuncture combined with metformin hydrochloride tablets) and control group (oral metformin hydrochloride tablets), 42 in each group. All were treated for 3 courses of treatment (1 month/course). TCM syndromes were scored before and after treatment. The height, weight, waist circumference and hip circumference of patients were measured to calculate body mass index (BMI) and waist-hip ratio (WHR). The levels of serum TG, TC, LDL-C and HDL-C were detected by biochemical analyzer, fasting blood glucose (FPG) was detected by glucose oxidase method, fasting insulin (FINS) was detected by electrochemiluminescence method, and insulin resistance index (HOMA-IR) was calculated. The recovery rates of menstruation and ovulation were observed and compared after treatment, and the clinical curative effect was evaluated.Results:There were significant differences in total response rate between observation group and control group [95.24% (40/42) vs. 80.95% (34/42); χ2=4.09, P=0.043]. After treatment, scores of TCM syndromes, BMI and WHR in observation group were significantly lower than those in the control group ( t=20.36, 23.77, 3.44, P<0.01). After treatment, serum FPG [(4.86±0.51) nmol/L vs. (5.41±0.55) nmol/L, t=4.75], FINS [(8.31±0.85) mU/L vs. (10.11±1.02) mU/L, t=8.79] levels and HOMA-IR [(1.88±0.19) vs. (2.44±0.25), t=11.97] in observation group were significantly lower than those in the control group ( P<0.01). After treatment, levels of serum TG, TC and LDL-C in observation group were significantly lower than those in the control group ( t=16.54, 4.81, 5.35, P<0.01), while HDL-C was significantly higher than that of the control group ( t=6.78, P<0.01). After treatment, there were significant differences in recovery rates of menstruation and ovulation between observation group and control group [57.14% (24/42), 47.62% (20/42) vs. 80.95% (34/42), 69.05% (29/42); χ2=5.57, 3.97, P<0.05]. Conclusion:Tongbu Qijing Acupuncture combined with metformin hydrochloride tablet can effectively improve syndromes and signs, regulate glucose-lipid metabolism, reduce IR and promote the recovery of menstruation and ovulation in patients with PCOS and IR.
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The classic formula Wuyaotang is the 49th of the 100 formulas in the Catalogue of Ancient Classic Prescriptions (First Batch) issued by the National Administration of Traditional Chinese Medicine, and is from the Secrets from the Orchid Chamber (《兰室秘藏》) by LI Dongyuan of the Jin Dynasty. It is composed of Angelicae Sinensis Radix, Glycyrrhizae Radix et Rhizoma, Aucklandiae Radix, Linderae Radix, and Cyperi Rhizoma, and has the effect of moving Qi, regulating meridians, and relieving pain. It is mainly indicated for Qi stagnation and blood stasis syndrome. Based on the ancient books on Wuyaotang, this study systematically reviewed the formula source, composition, dosage, preparation, usage, functions, indications, preparation principle, drug processing, modification, etc. of Wuyaotang with the bibliometrics method, explored its historical evolution, and determined the key information. Statistical analysis of its modern literature shows that there are few studies of the original formula of Wuyaotang, and the clinical studies mainly focus on modified Wuyaotang. It has a wide range of treatment scope and can be used for the treatment of dysmenorrhea, delayed menstrual cycle, hypomenorrhea, and menstrual fever, as well as ulcerative colitis, spleen distortion, sciatica, child intestinal spasm, and other internal, surgical, gynecological, and pediatric diseases. The pathogenesis in traditional Chinese medicine (TCM) is Qi stagnation. Through the analysis and research on ancient books and modern literature recording Wuyaotang, this study is expected to provide a scientific basis for the clinical application, in-depth research, and development of the classic formula Wuyaotang.
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Objective:To assess the efficacy of Rituximab (RTX) in treating children with refractory nephro-tic syndrome.Methods:A retrospective study was carried out.Twenty-two children diagnosed with refractory nephrotic syndrome in the Department of Nephrology of Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science and Technology from November 2018 to November 2020 were included in the study.All patients were treated with RTX.Patients with CD 19+ B lymphocytes≥1% total lymphocytes in peripheral blood were supplemented with one dose of RTX (375 mg/m 2), and each patient received 3-4 doses of RTX on average.The patients were treated with Mycophenolate mofetil after early discontinuation of calcineurin inhibitors (CNI). The Kaplan-Meier method was used to analyze the proteinuria relapse-free rate and the incidence of frequently recurrent nephrotic syndrome or steroid-dependent nephrotic syndrome in children after RTX treatment.The relapse times before and after using RTX were analyzed by the Wilcoxon signed rank test.Besides, the body mass indexes (BMI) and height of children before and after RTX treatment were compared by the rank sum test. Results:Of 22 patients studied, 20 patients accomplished the therapeutic protocol.One-year and two-year proteinuria relapse-free survival rates were 85% and 40%, respectively.The recurrence rate was reduced under the discontinuation of CNI.Compared with those before RTX treatment, the BMI and height of all children were significantly improved at 1 year and 2 years after RTX treatment (all P<0.05). However, no significant improvement was observed between 1 or 2 years after RTX treatment (all P>0.05). Conclusions:The use of RTX can effectively reduce the recurrence rate of refractory nephrotic syndrome even when hormones and other immunosuppressants are discontinued.At the same time, RTX can significantly improve the BMI and height of children.RTX is safe and effective for treatment of refractory nephrotic syndrome.
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This review summarizes the contribution of interleukin-17 (IL-17) to the susceptibility to mucocutaneous fungal infections, and superficial fungal infections associated with IL-17-targeting biological agents, such as secukinumab, ixekizumab, brodalumab, bimekizumab and ustekinumab, in the treatment of psoriasis. The superficial fungal infections associated with the treatment with IL-17-related biological agents are usually mild or moderate, and most of them are limited, with a good response to anti-fungal therapy. In addition, this review introduces clinical evaluation, monitoring and treatment of related superficial fungal infections, and provides a basis for safe clinical use of IL-17-targeting biologics.
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@#Objective To provide clinical reference for the perioperative management of esophageal cancer patients with different stages of chronic obstructive pulmonary disease (COPD) through investigating the impact of COPD on postoperative complications and survival in esophageal cancer patients undergoing oesophagectomy. Methods The clinical data of 163 patients who underwent radical resection of esophageal cancer in our department from January 2015 to January 2018 were retrospectively analyzed, including 124 males and 39 females, with a median age of 64 years (IQR: 23.8 years). They were divided into a COPD group (n=87) and a non-COPD group (n=76) according to the presence of COPD before operation. The clinical data were collected and the postoperative complications and 2-year survival between the two groups were compared and analyzed. Results The incidence of major postoperative complications (pulmonary infection, respiratory failure, arrhythmia and anastomotic leakage) in the COPD group were higher than those in the non-COPD group (all P<0.05). Spearman correlation analysis showed that the severity of preoperative COPD was positively correlated with the incidence of postoperative complications in patients with esophageal cancer (r=0.437, P<0.001). The incidence of postoperative respiratory failure and mortality in patients with severe COPD were significantly higher than those in patients without COPD and those with mild or moderate COPD. The 2-year survival rate of patients with esophageal cancer in the COPD group was lower than that in the non-COPD group (56.1%vs. 78.5.%, P=0.001), and the severity of COPD was negatively correlated to the survival rate. Conclusion COPD significantly increases the incidence of postoperative complications in patients with esophageal cancer, which is not conducive to the prognosis of patients, and the severity of COPD is correlated with postoperative complications and 2-year survival rate.
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We report the diagnosis and treatment of a rare case of epidural analgesia failure followed by postpartum subdural hematoma. The patient underwent vaginal delivery under epidural analgesia at 32 +6 gestational weeks due to threatened premature labor, during which an unexpected dural rupture occurred. She gave no history of headache and there was no obvious abnormality during the pregnancy. However, on postpartum day 4, the patient complained of headache that could not be relieved when supine, but without any other neurological symptoms. A prompt cranial CT examination showed a left frontotemporal subdural hematoma. After conservative management with intravenous drip of mannitol, re-examination of cranial CT showed that the left frontotemporal subdural hematoma was mostly absorbed and the patient was discharged on postpartum day 18. The patient was healthy during follow up. Intracranial subdural hematoma after dural puncture is a rare and serious complication that requires early recognition and treatment.
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Objective:To investigate and analyze the clinical phenotypes and genotypes in children diagnosed with nephronophthisis (NPHP), and to provide references for clinical diagnosis.Methods:Clinical data of 9 children with NPHP diagnosed by genetic testing in the Department of Nephrology, Wuhan Children′s Hospital from April 2017 to January 2022 were retrospectively collected. The clinical characteristics and genetic test results were analyzed.Results:The median onset age was 11.2(3.4, 14.2) years old in 9 patients, including 5 females and 4 males. There were 8 cases of glomerular proteinuria, 8 cases of renal tubular proteinuria, and 7 cases of reduced urinary gravity in 9 patients. All the children had varying degrees of impaired renal function at the time of diagnosis. Seven cases entered chronic kidney disease (CKD) stage 5, 1 case entered CKD stage 3, and 1 case entered CKD stage 4 at the time of diagnosis. All the children had renal ultrasound abnormalities of varying degrees: size change (3/9), echo enhancement (8/9) and cysts (3/9). Extrarenal phenotypes were present in 3 children. Genetic test showed that 6 patients had mutation of NPHP1 gene, 1 patient had mutation of WDR19 gene, 1 patient had mutation of NPHP3 gene and 1 patient had mutation of NPHP5 gene. Conclusions:Deletion mutation of NPHP1 gene is the most common, while NPHP3, NPHP5 and extremely rare WDR19 mutations have also been found in NPHP patients. The clinical manifestations of NPHP are not typical, so it is necessary to find a specific diagnosis method in the early.
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Objective:To investigate the epidemiological characteristics and influencing factors of scoliosis among primary and middle school students in Dali Bai autonomous prefecture.Methods:A total of 176,729 students aged 6-18 years from 380 primary and secondary schools in eight counties of Dali Bai Autonomous Prefecture were screened for spinal health by visual method, Adams forward bend test and scoliometer measuring the angle of trunk rotation from September to November 2021. The angle of trunk rotation ≥5° or visual method retest positive was used as a positive standard to confirm suspected scoliosis population. Demographic data of the screening population including name, gender, age and ethnicity were collected. The average altitude of the community or village committee in the screening area was recorded. Binary logistic regression analysis was used to screen the influencing factors of scoliosis.Results:There were 176,729 people planned to complete the screening. A total of 140,026 people were actually completed screening with completion rate 79.23%. A total of 3,190 (2.28%) suspected scoliosis positive people were detected. The detection rate of female was 2.52%, which was higher than that of male 2.03% (χ 2=37.18, P<0.001). The detection rate of 10-18 years old group was 2.90%, which was higher than that of 6-9 years old group 0.70% (χ 2=620.79, P<0.001). There was a significant difference in the detection rate among different age groups from 6 to 18 years old (χ 2=1,451.00, P<0.001). The detection rate of Han population was 2.67%, which was higher than that of non-Han population 2.15% (χ 2=31.06, P<0.001). In non-Han population, the detection rate of Bai population was 2.07%, which was lower than that of non-Bai population 2.26% (χ 2=4.02, P=0.045). Trend chi-square test showed significant difference in the detection rate of scoliosis among the general population, 10-18 years old population and 6-9 years old population in the altitude <1,500 m, 1,500-1,599 m, 1,600-1,699 m, 1,700-1,799 m, 1,800-1,899 m, 1,900-1,999 m, 2,000-2,099 m, 2,100-2,199 m, 2,200-2,299 m and ≥2,300 m groups (χ 2=249.02, 195.64, 24.46, P<0.05). Binary logistic regression analysis showed that the risk of scoliosis was lower in males than that in females ( OR=0.82, P<0.001). The risk of scoliosis was increased in 10-18 years old compared with that in 6-9 years old ( OR=0.12, P<0.001). The risk of scoliosis was low in Bai population compared with that in Han populations ( OR=0.75, P<0.001). The altitude ≥2,000 m was a risk factor ( OR=1.52, P<0.001). Conclusion:The detection rate of suspected scoliosis in primary and middle school students in Dali Bai Autonomous Prefecture was 2.28%. Female, aged 10-18 years, Han populations, and residence in altitude ≥2,000 m might be the risk factors for scoliosis.
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Shengyang Yiweitang is one of the first 100 classical prescriptions published by the National Administration of Traditional Chinese Medicine. It originated from the Clarifying Doubts about Damage from Internal and External Causes by physician LI Dongyuan of Jin dynasty， and is composed of Astragali Radix， Ginseng Radix et Rhizoma， Glycyrrhizae Radix et Rhizoma， Atractylodis Macrocephalae Rhizoma， Poria， Pinelliae Rhizoma， Citri Reticulatae Pericarpium， Angelicae Pubescentis Radix， Saposhnikoviae Radix， Notopterygii Rhizoma et Radix， Bupleuri Radix， Paeoniae Radix Alba， Alismatis Rhizoma， and Coptidis Rhizoma. With the effects of replenishing Qi， promoting Yang， clearing heat and removing dampness， Shengyang Yiweitang is used to treat spleen-stomach weakness and dampness-heat accumulation syndrome. Using bibliometrics， the authors systematically sorted out the source，composition， dosage， preparation， efficacy， indications， principle of composition， origin and processing of drugs，and modern clinical application of the prescription， and explored its history and key information. Additionally， it was found that Shengyang Yiweitang was widely used in modern clinical practice and was suitable for multisystem diseases， of which digestive system （264） was the most common， accounting for 41.71%， followed by urogenital system （57， 9.00%） and nervous system （48， 7.58%）. Although the treatment scope was wide， the pathogenesis of the diseases in traditional Chinese medicine belongs to "spleen-stomach weakness"， which fully reflected Li's academic thought of "internal injury of spleen and stomach leads to various diseases". The key information of Shengyang Yiweitang was determined by summarizing the relevant ancient books and modern literature， so as to provide accurate reference for its rational clinical application and further research and development.
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Shengyang Yiweitang is one of the first 100 classical prescriptions published by the National Administration of Traditional Chinese Medicine. It originated from the Clarifying Doubts about Damage from Internal and External Causes by physician LI Dongyuan of Jin dynasty， and is composed of Astragali Radix， Ginseng Radix et Rhizoma， Glycyrrhizae Radix et Rhizoma， Atractylodis Macrocephalae Rhizoma， Poria， Pinelliae Rhizoma， Citri Reticulatae Pericarpium， Angelicae Pubescentis Radix， Saposhnikoviae Radix， Notopterygii Rhizoma et Radix， Bupleuri Radix， Paeoniae Radix Alba， Alismatis Rhizoma， and Coptidis Rhizoma. With the effects of replenishing Qi， promoting Yang， clearing heat and removing dampness， Shengyang Yiweitang is used to treat spleen-stomach weakness and dampness-heat accumulation syndrome. Using bibliometrics， the authors systematically sorted out the source，composition， dosage， preparation， efficacy， indications， principle of composition， origin and processing of drugs，and modern clinical application of the prescription， and explored its history and key information. Additionally， it was found that Shengyang Yiweitang was widely used in modern clinical practice and was suitable for multisystem diseases， of which digestive system （264） was the most common， accounting for 41.71%， followed by urogenital system （57， 9.00%） and nervous system （48， 7.58%）. Although the treatment scope was wide， the pathogenesis of the diseases in traditional Chinese medicine belongs to "spleen-stomach weakness"， which fully reflected Li's academic thought of "internal injury of spleen and stomach leads to various diseases". The key information of Shengyang Yiweitang was determined by summarizing the relevant ancient books and modern literature， so as to provide accurate reference for its rational clinical application and further research and development.
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@#Objective To investigate the occurrence and characteristics of dysphagia and aspiration in the elderly in nursing home in Weifang, Shandong, China.Methods From January to June, 2021, 837 elderly people from 10 nursing homes in Weifang were randomly selected and investigated with general situation questionnaire, Fried Frailty Phenotype, Ohkuma questionnaire and Volume-Viscosity Swallowing Test.Results The prevalence of dysphagia and aspiration was 44.2% and 12.3% respectively. There were significant differences in the prevalence of dysphagia among ages and health condition (χ2 > 8.437, P<0.05). The prevalence of dysphagia and aspiration was higher in men than in women (χ2 > 4.060, P < 0.05). The incidence of oral dysphagia was higher in men than in women, and the incidence of esophageal dysphagia was lower (χ2 > 20.830, P<0.001). Oral dysphagia was predominant in the elderly with stroke, Alzheimer's disease, and Parkinson's disease (χ2=27.579, P<0.001), and esophageal dysphagia and airway protection dysfunction were predominant in the elderly with chronic respiratory disease (χ2 > 20.241, P<0.01).Conclusion The dysphagia and aspiration are prevalent in the elderly in nursing homes, and varies with different genders and basic diseases.
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Chronic kidney disease (CKD) is a progressive systemic disease, which is very common in children with kidney disease.With the progress of the disease, patients gradually develop aging-like manifestations, such as se-condary hyperparathyroidism, renal osteodystrophy, ectopic calcification, cardiovascular disease, growth retardation, renal fibrosis and so on. Klotho gene is closely related to human aging.Klotho protein is highly expressed in kidney, which is a key regulator of mineral and bone metabolism in CKD, and has many functions, such as anti-aging, anti-vascular calcification, regulating growth and development, anti-fibrosis and so on.In the early stage of CKD, the levels of Klotho protein in blood and urine decreased.Supplementation of exogenous Klotho protein or activation of endogenous Klotho protein can alleviate renal fibrosis, improve mineral and bone metabolism, reduce vascular calcification and delay the progression of CKD.The basic characteristics of Klotho gene and protein, the biological function of Klotho protein and its role in vascular calcification, CKD mineral osteopathy and the growth and development of children with CKD are reviewed in this article.
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@#Objective To analyze the effect of type 2 diabetes (T2DM) on the short-term prognosis of patients with non-small cell lung cancer (NSCLC) after resection surgery. Methods Clinical data of 207 NSCLC patients who underwent resection surgery in our hospital from January 2016 to January 2019 were retrospectively analyzed. The 100 NSCLC patients with T2DM were allocated to a T2DM group (58 males and 42 females, with an average age of 65.26±7.26 years), and 107 patients without T2DM were allocated to a non-T2DM group (66 males and 41 females, with an average age of 64.21±7.51 years). The short-term prognosis of the patients was compared between the two groups. Results Compared with the non-T2DM group, the postoperative atelectasis (P=0.012) and pulmonary infection (P=0.040) were statistically different in the T2DM group. The postoperative complication rate in the T2DM group was significantly higher than that in the non-T2DM group (66.0% vs. 33.6%, P<0.001). The postoperative hospitalization time in the T2DM group was longer than that in the non-T2DM group (9.83±6.35 d vs. 8.09±4.40 d, P=0.007). Conclusion T2DM will increase the incidence of postoperative complications, prolong the length of hospital stay and increase the economic burden of the NSCLC patients, which is not conducive to the postoperative prognosis of patients.
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Objective:To explore the causes of 12 cases with benign central airway stenosis, and to discuss the therapeutic effect of endotracheal intubation.Methods:Children with benign central airway stenosis in the People′s Hospital of Xinjiang Uygur Autonomous Region from January 2018 to December 2019 were selected.Their general cli-nical data, CT airway 3D reconstruction image data and the characteristics of tracheostenosis under bronchoscope were analyzed.A variety of combined bronchoscopic interventions (high-frequency cauterization, balloon dilatation, cryotherapy) were performed.Results:The clinical data of 12 children with benign central airway stenosis were collected, including 7 males and 5 females. The main causes of benign central airway stenosis in 12 cases were tracheal stenosis after intubation (9 cases, 75.00%), tracheoesophageal fistula (1 case, 8.33%), webbed stenosis (1 case, 8.33%) after tracheotomy, and right main bronchus stenosis after foreign body entrance (1 case, 8.33%). After treatment for 4 weeks [(4.48±0.61) mm], 6 months[(5.49±0.52) mm] and 1 year[(6.13±0.26) mm ], the diameter of stenotic airways increased significantly compared with that before treatment[(1.98±0.48) mm], and the diameter of stenotic airways increased gradually with the time of follow-up ( t=12.871, 9.302, 6.737, all P<0.001); the modified British Medical Research Council scale(MMRC)score decreased significantly after treatment [4 weeks(1.17±0.94)scores, 6 months ( 0.58±0.67) scores, 1 year (0.25±0.45) scores] compared with that before treatment[(3.17±0.58) scores], and the MMRC score decreased gradually with the increase of follow-up time ( t=11.489, 3.924, 2.345, all P<0.05) . Conclusions:The most common causes of benign central airway stenosis in children are tra-cheal intubation or tracheotomy.The combination of a variety of endotracheal endoscopic interventions (high-frequency cauterization, balloon dilatation, cryotherapy) is effective in the treatment of this disease.
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Objective:To analyze the correlation between clinical phenotypes and genotypes in 6 children with primary distal renal tubular acidosis (dRTA).Methods:The clinical data of 6 children confirmed as dRTA in Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science & Technology from November 2017 to August 2019 were collected, and related auxiliary examination was performed to assess their growth and development.The venous whole blood was reserved for Trio whole exome sequencing, and full spectrum genetic disease accurate diagnosis cloud platform was applied to systematic data screening and analysis.The suspected mutations were checked by Sanger sequencing, and then the role of protein was predicted by software.Results:Clinical manifestations, signs and auxiliary examination results of the 6 children accorded with the diagnostic criteria of dRTA, and the prominent characteristics was growth retardation.One case had knee valgus, one had osteoporosis, and the auxiliary examination results showed that both of them had alkaline urine, metabolic acidosis, and hypokalemia.Three children had nephrocalcinosis, and 2 children had nephrolithiasis.The parents of the 6 patients were all normal without phenotypes.Mutations in the SLC4A1 gene were identified in 4 patients, including 1 child with a reported homozygous autosomal recessive missense mutation(c.2102G>A, p.G701D), who had dRTA and hemolytic anemia, and 3 children with the reported de novo heterozygous autosomal dominant missense mutation(c.1766G>A, p.R589H, c.1765C>T, p.R589C), whose age at diagnosis was related to abnormal renal imaging.Compound heterozygous autosomal recessive mutations in the ATPV1B1 gene were identified in 1 patient, and they were novel heterozygous missense mutations (1153C>A, p.P385T and c. 806C>T, p.P269L). A novel homozygous autosomal recessive missense mutation was identified in 1 patient in the ATPV0A4 gene(c.1899C>A, p.Y633X, 208). Conclusions:Mutations in SLC4A1, ATP6V1B1, ATP6V0A4 genes are identified as the main causes of the primary dRTA, and the phenotypes was related to the mutation features and genotypes.Genetic test should be conducted on patients suspected as dRTA for early molecular diagnosis, thereby improving clinical phenotypic screening and individualized treatment.
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Objective To investigate the clinical manifestations and genetic features of children with papillorenal syndrome caused by PAX2 gene mutation.Methods Clinical manifestations,imaging changes and sequencing data were collected and analyzed from a family with papillorenal syndrome who were diagnosed in Wuhan Children's Hospital in February 2018."PAX2","papillorenal syndrome" and "renal coloboma syndrome" were used as key words to search in China National Knowledge Infrastructure,Wangfang Data Knowledge Service Platform,PubMed and Human Gene Mutation Database up to April 2018.Results A ten years old girl was admitted due to "edema and urine output decreased for one week".Lab showed BUN 25.30 mmol/L,Scr 766.5 μmol/L,Urine protein 3.6 g/24 h.Imaging examination showed bilateral vesical and ureter reflux combined with left duplex kidney and duplication of ureter.Developmental dysplasia of the left hip was also found.The father of the patient had been diagnosed with chronic kidney disease for 10 years and on hemodialysis for 6 years.Next generation sequencing revealed that both the father and daughter carried a heterozygous nonsense mutation in the exon3 c.219C ＞ G(p.Y73X) of PAX2.No Chinese literature ever was reported about papillorenal syndrome.Ninety-four articles in English were retrieved and 177 patients with papillorenal syndrome were confirmed by gene analysis with a total of 92 PAX2 variants.Ten nonsense mutations had been reported.Developmental dysplasia of the hip (DDH) never be reported before.Conclusion Papillorenal syndrome caused by PAX2 mutation can mainly manifest as abnormal development of both kidney and optic nerve,which may be accompanied by other systemic abnormalities,it is rarely reported in China.DDH may be a new phenotype of papillorenal syndrome.