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1.
China Journal of Chinese Materia Medica ; (24): 374-381, 2023.
Article in Chinese | WPRIM | ID: wpr-970474

ABSTRACT

This study aims to screen a strain from Armillaria for the cultivation of Gastrodia elata. Specifically, Armillaria strains were isolated from different producing areas of G. elata and identified. Based on the growth characteristics of the strains and the experiment on the cultivation of G. elata, an optimal A. gallica strain was screened out. The specific process is as follows. The fungus-gro-wing materials of G. elata were collected from four producing areas and the Armillaria strains were isolated(G,Y,S,H). The strains were then identified based on morphological observation and phylogeny analysis and the commonly used strains were determined. The sucrase genotypes of the strains were identified according to our previous research findings, and the growth characteristics of the strains, such as growth rate, diameter, dry weight, and polysaccharide content of the rhizomorphs, were measured. According to the biological characteristics and sucrase genotypes, two strains were selected for the cultivation of G. elata. The tuber yield and the content of gastrodin and p-hydroxybenzyl alcohol in the tuber of G. elata were measured to select the optimal strain. The results showed that the four strains were all A. gallica. The rhizomorphs of strains G and H of the same sucrase genotype had larger/higher length, growth rate, diameter, branch number, dry weight, and polysaccharide content than those of strains S and Y of the same sucrase genotype. The tuber yield and the total content of gastrodin and p-hydroxybenzyl alcohol in tuber of G. elata cultivated with strain H were 6.528 kg·m~(-2) and 0.566%, respectively, which were 4.58 and 1.30 folds those of G. elata cultivated with strain S. Strains H and S were screened out from four strains of A. gallica based on the growth characteristics and sucrase genotype. According to the tuber yield and content of total gastrodin and p-hydroxybenzyl alcohol in the tuber of G. elata, strain H was identified as the optimal one. The findings in this study are expected to lay a basis for cultivating G. elata with high yield and quality of tubers.


Subject(s)
Armillaria/genetics , Gastrodia , Polysaccharides
2.
Chinese Acupuncture & Moxibustion ; (12): 762-765, 2023.
Article in Chinese | WPRIM | ID: wpr-980792

ABSTRACT

OBJECTIVE@#To observe the clinical efficacy of moxibustion combined with coptis chinensis ointment sealing on plaque psoriasis complicated with obesity.@*METHODS@#A total of 52 patients of plaque psoriasis complicated with obesity were randomized into an observation group (26 cases) and a control group (26 cases, 2 cases dropped off). Coptis chinensis ointment sealing was adopted in the control group. On the basis of the treatment in the control group, moxibustion was applied at ashi point (area of local target lesions), Zhongwan (CV 12) and bilateral Zusanli (ST 36), Fenglong (ST 40), Quchi (LI 11), Tianshu (ST 25), Shangjuxu (ST 37) in the observation group. The treatment was given 30 min each time, once a day for 4 weeks in both groups. The psoriasis area and severity index (PASI) score, obesity related indexes (body mass, waist circumference, body mass index [BMI]), triglyceride, cholesterol, uric acid and plasma glucose were compared before and after treatment, and the clinical efficacy was evaluated in the two groups.@*RESULTS@#After treatment, the PASI scores were decreased compared with those before treatment in the two groups (P<0.01), and the PASI score in the observation group was lower than that in the control group (P<0.05); the body mass, waist circumference, BMI, triglyceride, cholesterol, uric acid and plasma glucose were decreased compared with those before treatment in the observation group (P<0.01, P<0.05), the triglyceride and cholesterol in the observation group were lower than those in the control group (P<0.05). The total effective rate was 53.8% (14/26) in the observation group, which was superior to 20.8% (5/24) in the control group (P<0.05).@*CONCLUSION@#Moxibustion combined with coptis chinensis ointment sealing can effectively improve the clinical symptoms in patients of plaque psoriasis complicated with obesity.


Subject(s)
Humans , Moxibustion , Blood Glucose , Ointments , Uric Acid , Psoriasis/therapy , Triglycerides , Obesity/therapy
3.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 265-273, 2023.
Article in Chinese | WPRIM | ID: wpr-973157

ABSTRACT

Diabetes retinopathy (DR) is an important cause that threatens the visual health of adults. There are some treatment methods of western medicine with definite efficacy, such as anti-vascular endothelial growth factor and laser photocoagulation, but they have many adverse reactions such as intraocular infection and visual field damage. Traditional Chinese medicine (TCM) therapies are safe and effective, which can complement western medicine. Phosphatidylinositol3-kinase (PI3K)/protein kinase B (Akt) signaling pathway regulates a range of processes including glucose metabolism, cell proliferation, and cell transcription and apoptosis, which is closely related to the occurrence and development of DR. Numerous studies have shown that TCM monomers can participate in maintaining the integrity of blood-retinal barrier and inhibiting retinal neovascularization and neurodegeneration in many aspects such as inhibiting oxidative stress and alleviating inflammatory reaction by regulating the PI3K/Akt pathway, so as to delay the progress of DR. Therefore, this study reviewed PI3K/Akt pathway and its relationship with DR, as well as the TCM monomers in interfering with DR based on PI3K/Akt pathway to provide some ideas for the prevention and treatment of DR in integrated TCM and western medicine.

4.
Gut and Liver ; : 566-580, 2023.
Article in English | WPRIM | ID: wpr-1000370

ABSTRACT

Background/Aims@#In patients with acute nonvariceal upper gastrointestinal bleeding (ANVUGIB), the optimal timing of endoscopy is still a matter of dispute. We conducted a systematic review and meta-analysis to determine the clinical benefit of early endoscopy. @*Methods@#A literature search of the MEDLINE, Embase, and Cochrane databases was conducted to identify publications from inception to March 1, 2022. Eligible studies included observational cohort studies and randomized controlled trials that reported clinical outcomes of endoscopy in patients with ANVUGIB. ANVUGIB patients who underwent endoscopy within 24 hours of admission were considered to have had an early endoscopy. The primary outcome was the mortality rate in ANVUGIB patients who had early or nonearly endoscopy. @*Results@#The final analysis included five randomized controlled studies (RCTs) and 20 observational studies from the 1,206 identified articles. The mortality rate was not significantly reduced among patients who received endoscopy performed within 24 hours, whether in cohort studies nor in RCTs. For subgroup analysis, a higher mortality rate was found only among patients who received very early endoscopy within 12 hours (odds ratio, 1.66; p<0.001, I 2 =0) in cohort studies. No significant difference in mortality rates was found among patients at high risk of bleeding who received early versus nonearly endoscopy. @*Conclusions@#Early endoscopy within 24 hours does not appear to significantly reduce the mortality rates of patients with ANVUGIB. Further well-designed studies are warranted to address if very early endoscopy within 12 hours can provide a clinical benefit for patients at high risk of bleeding.

5.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 903-909, 2023.
Article in Chinese | WPRIM | ID: wpr-998980

ABSTRACT

With the rapid development of artificial intelligence (AI) technology in the field of medicine, AI models show great potential in the diagnosis, prognosis and efficacy prediction of hepatocellular carcinoma (HCC). AI techniques include computational search algorithms, machine learning (ML) and deep learning (DL) models. Based on histopathology, radiomics and related molecular markers, the ML or DL algorithm is used to extract key information and then establish the diagnosis or prediction model, which may serve as a tool to aid in clinical decision-making. Further technical support, large-scale clinical validation and regulatory approvals are still needed due to the limitations on the application of AI models. This review summarizes the advances of AI in HC diagnosis, prediction of recurrence and prognosis, and highlights the radiomics, histopathology and molecular marker data.

6.
Chinese Journal of Digestive Endoscopy ; (12): 431-436, 2023.
Article in Chinese | WPRIM | ID: wpr-995399

ABSTRACT

Objective:To investigate the clinical features, characteristics under white-light endoscopy and endoscopic ultrasonography, and treatment strategies of gastritis cystica profunda (GCP) accompanied with or without neoplastic lesions.Methods:Clinical data of 35 patients, who were pathologically diagnosed as having GCP after endoscopic or surgical resection in Beijing Friendship Hospital, Capital Medical University from January 2015 to February 2021, were retrospectively collected, including 27 patients with neoplastic lesions. The demographic information, clinical manifestations, endoscopic features, treatment methods, and pathological results of GCP were summarized.Results:Thirty-five patients with GCP were 68.26±8.08 years old, and mostly male (80.00%, 28/35). The most common symptom was upper abdominal pain, accounting for 31.43% (11/35), and 25.71% (9/35) had no symptoms. Other symptoms included acid reflux, heartburn, abdominal distension, anemia, and choking sensation after eating. The most common site of GCP was cardia (51.43%, 18/35), and the main endoscopic manifestations of GCP were flat mucosal lesions (68.57%, 24/35), mainly 0-Ⅱa and 0-Ⅱa+Ⅱc type lesions, accounting for 66.67% (16/24). The second common endoscopic manifestation was polypoid eminence (20.00%, 7/35). Endoscopic ultrasonography was performed in 15 patients, with main manifestations of uniform hypoechoic with or without cystic echo (73.33%, 11/15). Among the GCP cases, 33 patients received endoscopic resection, and 2 received surgical treatment. The treatment processes were all successfully completed, and en-bloc resection was accomplished for all lesions receiving endoscopy, with the mean endoscopic operation time of 86.13 min. One patient suffered postoperative delayed bleeding after ESD which was stopped by endoscopic hemostasis. Final pathological results showed that the proportion of GCP complicated with neoplastic lesions was 77.14% (27/35), 68.57% (24/35) with early gastric cancer or precursor. Twenty-three cases achieved R0 resection. One case showed positive basal resection margin and vascular invasion, and recurrence happened in situ at the 5th month of follow-up, surgical resection was then performed. The endoscopic complete resection rate was 95.83% (23/24).Conclusion:GCP usually occurs in middle-aged and elderly male, often located in cardia, manifested mainly as flat mucosal lesions and polypoid changes. Endoscopic ultrasonography shows a high diagnostic value for GCP, and endoscopic treatment is safe and effective minimally invasive treatment for GCP.

7.
Chinese Journal of Perinatal Medicine ; (12): 250-253, 2023.
Article in Chinese | WPRIM | ID: wpr-995095

ABSTRACT

This article reported a male neonate with lethal mitochondrial trifunctional protein deficiency (MTPD) caused by compound heterozygous variations in the HADHB gene. The patient presented with poor milk intake complicated by abnormal myocardial enzymes within 24 h after birth and was transferred to the Children's Hospital of Nanjing Medical University on day 4. Physical examination revealed no obvious abnormalities on admission. Laboratory examination showed increased creatine kinase isoenzyme and cardiac troponin levels, and electrocardiogram suggested sinus tachycardia and low QRS voltage in limb leads. Blood screening for metabolic abnormalities showed high levels of tetradecenyl carnitine and various 3-hydroxycarnitines. Heterozygous mutations of c.739C>T(p.Arg247Cys) and c.607C>T(p.Arg203Ter,272) were detected in the HADHB gene in the boy, which were pathogenic variants included in the Human Gene Mutation Database. Followed up to three months of age, the boy was readmitted to hospital due to poor milk intake for one week and poor response for 2 d after catching a cold. After admission, he quickly developed multiple organs dysfunction such as heart failure and respiratory failure, and then died. Lethal MTPD is rare with no effective treatment and poor prognosis. Lethal MTPD should be highly suspected when unexplained cardiomyopathy, hypoglycemia, acidosis and other metabolic abnormalities appear in the neonatal period, and an early diagnosis could be confirmed with genetic testing in the neonatal period.

8.
Chinese Pediatric Emergency Medicine ; (12): 433-439, 2022.
Article in Chinese | WPRIM | ID: wpr-955080

ABSTRACT

Objective:To analyze the risk factors of bronchopulmonary dysplasia(BPD)in very preterm infants(VPI), and to provide scientific basis for the prevention and treatment of BPD in VPI.Methods:A prospective multicenter study was designed to collect the clinical data of VPI in department of neonatology of 28 hospitals in 7 regions from September 2019 to December 2020.According to the continuous oxygen dependence at 28 days after birth, VPI were divided into non BPD group and BPD group, and the risk factors of BPD in VPI were analyzed.Results:A total of 2 514 cases of VPI including 1 364 cases without BPD and 1 150 cases with BPD were enrolled.The incidence of BPD was 45.7%.The smaller the gestational age and weight, the higher the incidence of BPD( P<0.001). Compared with non BPD group, the average birth age, weight and cesarean section rate in BPD group were lower, and the incidence of male infants, small for gestational age and 5-minute apgar score≤7 were higher( P<0.01). In BPD group, the incidences of neonatal respiratory distress syndrome(NRDS), hemodynamically significant patent ductus arteriosus, retinopathy of prematurity, feeding intolerance, extrauterine growth restriction, grade Ⅲ~Ⅳ intracranial hemorrhage, anemia, early-onset and late-onset sepsis, nosocomial infection, parenteral nutrition-associated cholestasis were higher( P<0.05), the use of pulmonary surfactant(PS), postnatal hormone exposure, anemia and blood transfusion were also higher, and the time of invasive and non-invasive mechanical ventilation, oxygen use and total hospital stay were longer( P<0.001). The time of starting enteral nutrition, cumulative fasting days, days of reaching total enteral nutrition, days of continuous parenteral nutrition, days of reaching 110 kcal/(kg·d) total calorie, days of reaching 110 kcal/(kg·d) oral calorie were longer and the breastfeeding rate was lower in BPD group than those in non BPD group( P<0.001). The cumulative doses of amino acid and fat emulsion during the first week of hospitalization were higher in BPD group( P<0.001). Multivariate Logistic regression analysis showed that NRDS, invasive mechanical ventilation, age of reaching total enteral nutrition, anemia and blood transfusion were the independent risk factors for BPD in VPI, and older gestational age was the protective factor for BPD. Conclusion:Strengthening perinatal management, avoiding premature delivery and severe NRDS, shortening the time of invasive mechanical ventilation, paying attention to enteral nutrition management, reaching whole intestinal feeding as soon as possible, and strictly mastering the indications of blood transfusion are very important to reduce the incidence of BPD in VPI.

9.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 237-245, 2022.
Article in Chinese | WPRIM | ID: wpr-940474

ABSTRACT

Suanzaoren Tang, as documented in the Synopsis of the Golden Chamber (《金匮要略》),consists of Ziziphi Spinosae Semen, Poria, Anemarrhenae Rhizoma, Chuanxiong Rhizoma, and Glycyrrhizae Radix et Rhizoma, and is indicated for dysphoria, consumptive disease, and insomnia. In modern clinical practice,in addition to sleep disorders,Suanzaoren Tang and its modified formulas can also be used to treat anxiety disorders, as well as insomnia,cardiac intervention,myocardial infarction, and other diseases combined with anxiety. It is also used in combination with other Chinese medicinal formulas (such as Zhizichi Tang,Ganmai Dazaotang,Baihe Zhimu Dihuangtang,and Jinlingzi San),western medicines (such as paroxetine,zopiclone,enalapril,amlodipine,metformin,and sertraline hydrochloride), acupuncture, and acupoint application to treat anxiety, as well as cardiovascular neurosis,cancer,hypertension,type 2 diabetes, and other diseases combined with anxiety. As revealed by clinical treatment results, Suanzaoren Tang and its modified formulas can significantly reduce anxiety scores such as Hamilton Anxiety Rating Scale(HAMA) and Self-rating Anxiety Scale(SAS),and improve anxiety symptoms with significant efficacy and few side effects. As reported by experimental pharmacological studies, Suanzaoren Tang can regulate the content of neurotransmitters such as dopamine(DA),homovanillic acid(HVA),γ-aminobutyric acid(GABA),noradrenaline (NE),5-hydroxyindoleacetic acid (5-HIAA),glutamic acid(Glu),β-endorphin(β-EP),5-hydroxytryptamine(5-HT), and nitric oxide (NO)in the brain, and mediate immune function by reducing the levels of inflammatory cytokines such as interleukin-1β(IL-1β)and tumor necrosis factor-α(TNF-α),enhancing the proliferation of B lymphocytes,phagocytosis of peritoneal macrophages, and down-regulating the proliferation of T lymphocytes. Besides, it can also regulate the endocrine level to allow the homeostasis of nervous system, endocrine system, and immune system by increasing adrenocorticotropic hormone(ACTH)and corticosterone(CORT)levels and up-regulating glucocorticoid receptor(GR)expression, finally achieving the effect of anxiety prevention and treatment. The present study systematically reviewed the clinical and basic research progress on the prevention and treatment of anxiety with Suanzaoren Tang to provide references for the research on the mechanism and material basis of Suanzaoren Tang and the development of new drugs for anxiety.

10.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 258-265, 2022.
Article in Chinese | WPRIM | ID: wpr-940377

ABSTRACT

Tenuifolin, a main component in Polygalae Radix, is frequently used as an important indicator for quality control of Polygalae Radix and its processed products. Dementia is a serious and persistent cognitive disorder, and the number of dementia patients is increasing worldwide, which brings great economic burden and mental pressure to families and society. At present, cholinesterase inhibitor and other drugs can only alleviate the symptoms of dementia, and there are some toxic and side effects. It has been found that tenuifolin can significantly improve cognitive disorder, learning and memory and is expected to be a potential drug for treating dementia. Tenuifolin exerts protective effects on amyloid-β (Aβ) deposition, acetylcholine reduction, neuroinflammation, cellular oxidative damage and nerve cell apoptosis caused by neurodegenerative diseases via multiple mechanisms, and can be applied to various types of dementia. In addition, it can be quickly absorbed into the blood, mainly distributed in liver and kidney, and can enter into the brain through the blood-brain barrier. However, because of its large molecular mass and poor fat solubility, tenuifolin can be rapidly eliminated, generating some problems such as low oral absoBrbability and permeability of blood-brain barrier. Therefore, the information of chemistry, pharmacology, pharmacokinetics and toxicology of tenuifolin was summarized in this paper to provide reference and ideas for further research and application.

11.
Journal of Zhejiang University. Medical sciences ; (6): 73-78, 2022.
Article in English | WPRIM | ID: wpr-928658

ABSTRACT

To compare different illness severity scores in predicting mortality risk of extremely low birth weight infants (ELBWI). From January 1st, 2019 to January 1st, 2020, all ELBWI admitted in the Children's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital and the First Affiliated Hospital of Nanjing Medical University were included in the study. ELBWI with admission age ≥1 h, gestational age ≥37 weeks and incomplete data required for scoring were excluded. The clinical data were collected, neonatal critical illness score (NCIS), score for neonatal acute physiology version Ⅱ (SNAP-Ⅱ), simplified version of the score for neonatal acute physiology perinatal extension (SNAPPE-Ⅱ), clinical risk index for babies (CRIB) and CRIB-Ⅱ were calculated. The scores of the fatal group and the survival group were compared, and the receiver operating characteristic (ROC) curve was used to evaluate the predictive value of the above illness severity scores for the mortality risk of ELBWI. Pearson correlation analysis was used to analyze the correlation between illness scores and birth weight, illness scores and gestational age. A total of 192 ELBWI were finally included, of whom 114 cases survived (survival group) and 78 cases died (fatal group). There were significant differences in birth weight, gestational age and Apgar scores between fatal group and survival group (all <0.01). There were significant differences in NCIS, SNAP-Ⅱ, SNAPPE-Ⅱ, CRIB and CRIB-Ⅱ between fatal group and survival group (all <0.01). The CRIB had a relatively higher predictive value for the mortality risk. Its area under the ROC curve (AUC) was 0.787, the sensitivity was 0.678, the specificity was 0.804, and the Youden index was 0.482. The scores of NCIS, SNAP-Ⅱ, SNAPPE-Ⅱ, CRIB and CRIB-Ⅱ were significantly correlated with birth weight and gestational age (all <0.05). The correlation coefficients of CRIB-Ⅱ and CRIB with birth weight and gestational age were relatively large, and the correlations coefficients of NCIS with birth weight and gestational age were the smallest (0.191 and 0.244, respectively). Among these five illness severity scores, CRIB has better predictive value for the mortality risk in ELBWI. NCIS, which is widely used in China, has relatively lower sensitivity and specificity, and needs to be further revised.


Subject(s)
Humans , Infant , Infant, Newborn , Birth Weight , Gestational Age , Infant, Extremely Low Birth Weight , Infant, Newborn, Diseases/mortality , Predictive Value of Tests , Risk Assessment/methods , Severity of Illness Index
12.
Chinese Journal of Contemporary Pediatrics ; (12): 240-248, 2022.
Article in English | WPRIM | ID: wpr-928594

ABSTRACT

OBJECTIVES@#To explore the optimal maintenance dose of caffeine citrate for preterm infants requiring assisted ventilation and caffeine citrate treatment.@*METHODS@#A retrospective analysis was performed on the medical data of 566 preterm infants (gestational age ≤34 weeks) who were treated and required assisted ventilation and caffeine citrate treatment in the neonatal intensive care unit of 30 tertiary hospitals in Jiangsu Province of China between January 1 and December 31, 2019. The 405 preterm infants receiving high-dose (10 mg/kg per day) caffeine citrate after a loading dose of 20 mg/kg within 24 hours after birth were enrolled as the high-dose group. The 161 preterm infants receiving low-dose (5 mg/kg per day) caffeine citrate were enrolled as the low-dose group.@*RESULTS@#Compared with the low-dose group, the high-dose group had significant reductions in the need for high-concentration oxygen during assisted ventilation (P=0.044), the duration of oxygen inhalation after weaning from noninvasive ventilation (P<0.01), total oxygen inhalation time during hospitalization (P<0.01), the proportion of preterm infants requiring noninvasive ventilation again (P<0.01), the rate of use of pulmonary surfactant and budesonide (P<0.05), and the incidence rates of apnea and bronchopulmonary dysplasia (P<0.01), but the high-dose group had a significantly increased incidence rate of feeding intolerance (P=0.032). There were no significant differences between the two groups in the body weight change, the incidence rates of retinopathy of prematurity, intraventricular hemorrhage or necrotizing enterocolitis, the mortality rate, and the duration of caffeine use (P>0.05).@*CONCLUSIONS@#This pilot multicenter study shows that the high maintenance dose (10 mg/kg per day) is generally beneficial to preterm infants in China and does not increase the incidence rate of common adverse reactions. For the risk of feeding intolerance, further research is needed to eliminate the interference of confounding factors as far as possible.


Subject(s)
Humans , Infant , Infant, Newborn , Caffeine/therapeutic use , Citrates , Infant, Premature , Respiration, Artificial , Retrospective Studies
13.
Chinese Journal of Contemporary Pediatrics ; (12): 132-140, 2022.
Article in English | WPRIM | ID: wpr-928578

ABSTRACT

OBJECTIVES@#To investigate the incidence of extrauterine growth retardation (EUGR) and its risk factors in very preterm infants (VPIs) during hospitalization in China.@*METHODS@#A prospective multicenter study was performed on the medical data of 2 514 VPIs who were hospitalized in the department of neonatology in 28 hospitals from 7 areas of China between September 2019 and December 2020. According to the presence or absence of EUGR based on the evaluation of body weight at the corrected gestational age of 36 weeks or at discharge, the VPIs were classified to two groups: EUGR group (n=1 189) and non-EUGR (n=1 325). The clinical features were compared between the two groups, and the incidence of EUGR and risk factors for EUGR were examined.@*RESULTS@#The incidence of EUGR was 47.30% (1 189/2 514) evaluated by weight. The multivariate logistic regression analysis showed that higher weight growth velocity after regaining birth weight and higher cumulative calorie intake during the first week of hospitalization were protective factors against EUGR (P<0.05), while small-for-gestational-age birth, prolonged time to the initiation of total enteral feeding, prolonged cumulative fasting time, lower breast milk intake before starting human milk fortifiers, prolonged time to the initiation of full fortified feeding, and moderate-to-severe bronchopulmonary dysplasia were risk factors for EUGR (P<0.05).@*CONCLUSIONS@#It is crucial to reduce the incidence of EUGR by achieving total enteral feeding as early as possible, strengthening breastfeeding, increasing calorie intake in the first week after birth, improving the velocity of weight gain, and preventing moderate-severe bronchopulmonary dysplasia in VPIs.


Subject(s)
Female , Humans , Infant , Infant, Newborn , Fetal Growth Retardation , Gestational Age , Hospitalization , Incidence , Infant, Premature , Infant, Very Low Birth Weight , Prospective Studies , Risk Factors
14.
Chinese Journal of Medical Genetics ; (6): 198-201, 2022.
Article in Chinese | WPRIM | ID: wpr-928388

ABSTRACT

OBJECTIVE@#To analyze the clinical phenotype and genetic variant in a Chinese pedigree affected with benign familial neonatal convulsion (BFNC).@*METHODS@#Clinical data and peripheral blood samples of the pedigree were obtained with informed consent. Whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The pedigree comprised 9 individuals, among whom 4 were affected, including 3 males and 1 female. All patients had developed seizures during the neonatal period, which had ceased in 4 to 6 months. One patient had recurrence in between 1 and 2 years old. Genetic testing has identified a novel nonsense c.810G>A (p.W270X) variant in exon 5 of the KCNQ2 gene, which has co-separated with the BFNC phenotype in the pedigree.@*CONCLUSION@#The patients from this pedigree have conformed to the diagnosis of BFNC with good prognosis, which was in keeping with previously reported cases. The heterozygous c.810G>A (p.W270X) nonsense variant of the KCNQ2 gene probably underlay the pathogenesis of BFNC in this pedigree, which has expanded the mutational spectrum of the disease.


Subject(s)
Child, Preschool , Female , Humans , Infant , Male , Asian People/genetics , China , Epilepsy, Benign Neonatal/genetics , Genetic Testing , Mutation , Pedigree
15.
Chinese Journal of Digestive Endoscopy ; (12): 650-654, 2022.
Article in Chinese | WPRIM | ID: wpr-958304

ABSTRACT

Objective:To investigate the role of ineffective esophageal motility (IEM) in non-erosive acid reflux related diseases, and the influence of the fourth edition Chicago classification (CC v4.0) on the diagnosis of IEM.Methods:From January 2018 to January 2020, 63 patients with acid reflux related symptoms who underwent gastroscopy and showed no abnormal changes in esophageal mucosa or structure, and underwent high resolution esophageal manometry (HRM) and 24-hour esophageal pH monitoring in the Department of Gastroenterology of Beijing Friendship Hospital were included in the case-control study. According to the HRM results, the third edition Chicago classification standard (CC v3.0) and CC v4.0 were used to divided patients into IEM group and normal dynamic group. The HRM results, 24-hour esophageal pH monitoring results and final diagnosis of the two groups under the two editions of Chicago classification standard were mainly compared and analyzed.Results:Among the 63 patients, there were 14 cases of non-erosive gastroesophageal reflux disease (NERD), 19 cases of reflux hypersensitivity (RH), and 30 cases of functional heartburn (FH). When using CC v3.0, there were 20 cases in the IEM group, including 9 cases of NERD, 5 cases of RH and 6 cases of FH, and 43 cases in the normal dynamic group, including 5 cases of NERD, 14 cases of RH and 24 cases of FH. When using CC v4.0, there were 16 cases in the IEM group, including 7 cases of NERD, 4 cases of RH and 5 cases of FH, and 47 cases in the normal dynamic group, including 7 cases of NERD, 15 cases of RH and 25 cases of FH. When using CC v3.0, compared with the normal dynamic group, the acid exposure time (AET) of the IEM group was significantly higher [3.45 (1.55, 6.40)% VS 1.20 (0.40, 2.30)%, Z=-2.940, P=0.003], the DeMeester score was also significantly higher [13.8 (5.8, 21.4) VS 5.3 (2.9, 10.0), Z=-2.851, P=0.004], the lower esophageal sphincter pressure (LESP) [10.15 (7.52, 13.65) mmHg (1 mmHg=0.133 kPa) VS 15.40 (11.20, 21.60) mmHg, Z=-3.241, P=0.001], 4-second integrated relaxation pressure (4sIRP) (3.79±0.57 mmHg VS 6.05±0.50 mmHg, t=2.727, P=0.008), and distal contraction integral (DCI) [334.65 (208.25, 438.92) mmHg·s·cm VS 1 258.70 (919.00, 1 750.10) mmHg·s·cm, Z=-6.305, P<0.001] were significantly lower than those of the normal dynamic group. When using CC v4.0, AET and Demeester scores in the IEM group were also significantly higher than those in the normal dynamic group (both P<0.05), and LESP, 4sIRP and DCI were also significantly lower than those in the normal dynamic group (all P<0.05). In addition, upper esophageal sphincter pressure was significantly lower than that in normal dynamic group [34.60 (21.50, 48.05) mmHg VS 49.67 (36.75, 61.10) mmHg, Z=-2.140, P=0.032]. Conclusion:IEM is associated with impaired anti-reflux barrier function and esophageal acid exposure in patients with non-erosive acid reflux related diseases. Compared with CC v3.0, CC v4.0 can reduce the heterogeneity of IEM patients to some extent.

16.
Chinese Journal of Neonatology ; (6): 18-22, 2021.
Article in Chinese | WPRIM | ID: wpr-908533

ABSTRACT

Objective:To study the risk factors of hemodynamically significant patent ductus arteriosus (hsPDA) in extremely preterm infants (EPI).Method:From July 2017 to April 2020, EPI (gestational age <28 weeks) admitted to the Department of Neonatology of our hospital were included and analyzed retrospectively. According to whether hsPDA existed or not, the infants were assigned into non-hsPDA group and hsPDA group. Demographic findings and possible risk factors of hsPDA were collected.The cumulative fluid overload (FO) within 3 days after birth was calculated. Univariate and multivariate analysis were used to determine the risk factors of hsPDA.Result:A total of 79 infants with gestational age of (27.0±0.9) weeks and birth weight of (987±173)g were enrolled, including 23 cases in non-hsPDA group and 56 cases in hsPDA group. Univariate analysis showed that thrombocytopenia ( P=0.044), respiratory distress syndrome (RDS) treated with pulmonary surfactant (PS) ( P=0.006) and high FO level ( P=0.002) were associated with hsPDA. Multivariate analysis showed that RDS treated with PS ( OR=5.933, 95% CI 1.360~25.883, P=0.018) and high FO level ( OR=1.261, 95% CI 1.063~1.496, P=0.008) were independent risk factors for hsPDA in EPIs. ROC curve analysis showed that the cut-off value of FO was -0.2%, with 85.7% sensitivity and 56.5% specificity distinguishing the presence of hsPDA (AUC=0.712, Youden index=0.422). Conclusion:High level of FO within the first 3 days of life and RDS treated with PS are independent risk factors for hsPDA in EPI. After PS treatment, hemodynamic changes of infants with RDS should be monitored closely. During early fluid management of EPI, FO should be strictly monitored to avoid high FO level.

17.
Chinese Journal of Neonatology ; (6): 12-17, 2021.
Article in Chinese | WPRIM | ID: wpr-908532

ABSTRACT

Objective:To study the early predictive value of vasoactive inotropic score (VIS) for mortality in persistent pulmonary hypertension of the newborn (PPHN).Method:From July 2017 to November 2020, clinical data of infants diagnosed with PPHN (gestational age ≥34 weeks and admission age <7 days) admitted to our department of neonatology were retrospectively analyzed. According to their clinical outcome, the infants were assigned into survival group and death group. Demographics, risk factors of mortality and the series of VIS within 12 hours after admission were collected. These indicators were compared between the two groups to determine the confounding factors of mortality. Logistic regression was used to determine the correlation between VIS and mortality. The predictive value of VIS for the mortality of infants with PPHN was calculated using ROC curve.Result:A total of 105 infants with PPHN were enrolled, including 75 in survival group and 30 in death group. The overall mortality rate was 28.6% (30/105). Compared with survival group, the death group had higher gestational age [(39.1±1.8) weeks vs. (37.9±2.0) weeks], lower Apgar score at 1 minute [8.0 (6.0, 9.3) vs. 9.0 (8.0, 10.0)] and lower PaO 2/FiO 2 within 12 hours after admission [40 (30, 50) vs. 80 (60, 100)]. After adjusting for gestational age, Apgar score at 1min and lowest PaO 2/FiO 2 within 12 hours after admission, the maximal VIS (VISmax) >27.8 within 12 hours after admission was independently correlated with increased risk of mortality ( OR=23.055, 95% CI 4.885~108.800, P<0.001). ROC curve analysis showed that the cut-off value was 27.8, with 70.0% sensitivity and 90.7% specificity predicting mortality (AUC=0.828, Youden index=0.607). Conclusion:VIS could be used as an early predictor of mortality in PPHN. The infants with VISmax greater than 27.8 within 12 hours after admission have increased risk of mortality.

18.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1801-1805, 2021.
Article in Chinese | WPRIM | ID: wpr-908060

ABSTRACT

Objective:To evaluate the diagnostic and predictive value of ultrasonic cardiac output monitor (USCOM) in premature infants with hemodynamic significant patent ductus arteriosus (hsPDA).Methods:A total of 165 preterm infants with gestational age less than 34 weeks and within 72 hours after birth in the Neonatal Medical Center of Children′s Hospital of Nanjing Medical University from January 2018 to June 2020 were retrospectively analyzed.According to the echocardiograph (ECHO) results within 72 hours after birth, clinical manifestations and oral administration of Ibuprofen, premature infants were divided into non-patent ductus arteriosus (non-PDA group, 77 cases), non-hsPDA group (59 cases), and hsPDA group (29 cases). USCOM was performed within half of an hour after ECHO.During the course of oral medication of Ibuprofen in the hsPDA group, USCOM was repeatedly examined every 24 hours.ECHO and USCOM were re-examined within 24 hours after the course of oral medication of ibuprofen.Results:Compared with non-hsPDA group and non-PDA group, the gestational age [(31.51±1.62) weeks, (32.09±1.27) weeks vs.(30.82±1.61) weeks, F=8.425, P<0.001], birth weight [(1 154.49±192.55) g, (1 195.58±182.02) g vs.(1 094.66±153.69) g, F=3.366, P=0.037] and the mean blood pressure [(38.37±2.20) mmHg, (38.53±2.37) mmHg vs.(30.52±2.31) mmHg, 1 mmHg=0.133 kPa, F=142.860, P<0.001]were significantly lower in hsPDA group.On the contrary, the heart rate[(129.68±7.11) times/min, (130.34±7.27) times/min vs.(164.76±7.65) times/min, F=271.790, P<0.001], B-type natriuretic peptide[(203.76±108.68) ng/L, (152.43±54.24) ng/L vs.(3 385.31±856.26) ng/L, F=931.30, P<0.001] and left artrium/aorta (1.32±0.12, 1.29±0.09 vs.1.60±0.12, F=84.970, P<0.001)were significantly higher.Among the USCOM parameters, left ventricular cardiac output [(0.40±0.08) L/min, (0.40±0.08) L/min vs.(0.51±0.04) L/min, F=26.760, P<0.001], cardiac index (CI) [(3.76±0.48) L/(min·m 2), (3.54±0.30) L/(min·m 2) vs.(4.43±0.36) L/(min·m 2), F=56.060, P<0.001], stroke volume[(3.75±0.28) mL, (3.70±0.23) mL vs.(4.22±0.36)mL, F=40.170, P<0.001], stroke volume index [(34.42±2.66) mL/m 2, (34.47±3.29) mL/m 2vs.(38.45±3.32) mL/m 2, F=20.080, P<0.001], peak ejection velocity [(1.12±0.12) m/s, (1.11±0.10) m/s vs.(1.23±0.09) m/s, F=14.890, P<0.001] and corrected flow time [(379.02±22.69) ms, (376.51±27.95) ms vs.(403.69±39.04) ms, F=10.120, P<0.001]were significantly higher in hsPDA group, while systemic vascular resistance index (SVRI) [(1 109.49±115.67) ds·cm -5·m 2, (1 070.01±133.55) ds·cm -5·m 2vs.(861.31±115.22) ds cm -5m 2, F=41.130, P<0.001]was significantly lower than that of non-hsPDA and non-PDA group.The area under the receiver operating characteristic curve of CI and SVRI for predicting hsPDA were 0.916 and 0.905, respectively.The sensitivity and specificity of CI>4.05 L/(min·m 2) for predicting hsPDA was 0.828 and 0.860, respectively, which was 0.660 and 1.000 for SVRI<1 002.5 ds·cm -5·m 2.The sensitivity and specificity of combining CI and SVRI for predicting hsPDA was 0.966 and 0.949, respectively. Conclusions:USCOM has a good diagnostic and predictive value for hsPDA in premature infants.The combined application of CI and SVRI can improve the predictive value, and help formulate the early diagnostic and treatment strategy for PDA in premature infants

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Chinese Journal of Applied Clinical Pediatrics ; (24): 694-698, 2021.
Article in Chinese | WPRIM | ID: wpr-882893

ABSTRACT

Objective:To analyze the clinical features and genetic factors of neonatal 17β-hydroxysteroid dehydrogenase type10 (HSD10) deficiency.Methods:The clinical characteristics and genetic test results of a child with HSD10 deficiency coming from Children′s Hospital of Nanjing Medical University in April 2019 were retrospectively analyzed.The keywords" 17β-hydroxysteroid dehydrogenase type 10 deficiency" or " 2-Methyl3-Hydroxybutyryl-CoA dehydrogenase deficiency" or " HSD10" , etc.were searched in various databases, including CNKI, Wanfang, Weipu, Embase and PubMed to review the cases collected from all published data until May 31, 2020.Results:The patient was a newborn male who developed symptoms on the first day after birth.The main signs were metabolic acidosis, increased blood ammonia and lactate, and hypotonia.Trio whole exom sequencing in the patient and his parents identified hemizygous NM001037811: c.650G>A, p.R217Q in the HSD17B10 gene that is inherited from the mother.Since the child died on the third day after birth, no further central nervous system examination was performed.The mother of the child has intellectual disability, the sibling sister is normal and the HSD17B10 locus is wild type.By lite-rature reviewing, 5 newborn cases with clear medical records and genetic test results were listed.All patients were male, and had onset of HSD10 deficiency within 1 week after birth.The main phenotypes include metabolic acidosis (increased blood ammonia and lactate), hypoglycemia, hypotonia, and convulsions.All 6 children died in early infancy.The corresponsive HSD17B10 variants were c. 740A>G/p.N247S, c.677G>A/p.R226Q, c.257A>G/p.D86G and c. 650G>A/p.R217Q, which did not indicate the hot spots of mutation. Conclusions:HSD10 deficiency in the neonatal period is relatively rare.The clinical diagnosis is difficult due to the serious condition and short course of the disease.Severe metabolic acidosis, hypotonia, and convulsions in neonatal patients are the main reasons for the poor prognosis, which can be attributed to the hemizygous variation and heterogeneity of the mutation site in male patients.c.650G>A may be closely associated with severe neonatal HSD10 deficiency, but the molecular biological mechanism needs to be further clarified.HSD10 deficiency has a poor prognosis and lacks effective treatment.

20.
Chinese Journal of Contemporary Pediatrics ; (12): 588-592, 2021.
Article in Chinese | WPRIM | ID: wpr-879898

ABSTRACT

OBJECTIVE@#To investigate the factors contributing to the withdrawal from treatment in neonates with respiratory failure.@*METHODS@#The medical data of 2 525 neonates with respiratory failure were retrospectively studied, who were reported in 30 hospitals of Jiangsu Province from January to December, 2019. According to whether a complete treatment was given, they were divided into a complete treatment group with 2 162 neonates and a withdrawal group with 363 neonates. A multivariate logistic regression analysis was used to investigate the factors contributing to the withdrawal from treatment in neonates with respiratory failure.@*RESULTS@#The multivariate logistic regression analysis showed that small-for-gestational-age birth, congenital abnormality, gestational age < 28 weeks, living in the rural area or county-level city, and maternal age < 25 years were risk factors for the withdrawal from treatment in neonates with respiratory failure (@*CONCLUSIONS@#Small-for-gestational-age birth, congenital abnormality, gestational age, living area, maternal age, Apgar score at birth, and method of birth are contributing factors for the withdrawal from treatment in neonates with respiratory failure. A poor prognosis and a low quality of life in future might be major immediate causes of withdrawal from treatment in neonates with respiratory failure, which needs to be confirmed by further studies.


Subject(s)
Female , Humans , Infant , Infant, Newborn , Pregnancy , Apgar Score , Cesarean Section , Gestational Age , Quality of Life , Respiratory Insufficiency/therapy , Retrospective Studies , Risk Factors
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