Objective:To investigate the clinical characteristics, laboratory characteristics and genetic diagnosis of aromatic L-amino acid decarboxylase deficiency (AADCD), and to improve the understanding of this disease.Methods:Four children diagnosed with AADCD from the Department of Neurology, Beijing Children′s Hospital Affiliated to Capital Medical University from August 2016 to June 2020 were collected, and their clinical manifestations, laboratory and imaging data, and genetic test results were retrospectively analyzed.Results:All the 4 cases were diagnosed in early infancy, with the first symptom of feeding difficulties. They developed paroxysmal dyspraxia accompanied by eye movement crisis, movement regression, hypotonia, growth retardation, sleep disorders and autonomic nervous symptoms such as ptosis, excessive sweating and nasal congestion at the age of 2-4 months, respectively. The 4 children were siblings from 2 families with healthy parents. The dihydroxyphenylalanine decarboxylase ( DDC) gene mutations in cases 1 and 2 were derived from the maternal missense mutation c.1040G>A(P.RG347gln), and from the paternal deletion of exons 11 and 12, respectively. The DDC gene mutation in case 3 was derived from the maternal mutation c.419G>A(p.G140E) and the paternal mutation c.1375C>T(p.H459Y), respectively. Case 4 did not undergo genetic testing. Blood amino acid and acylcarnitine profiles and urine organic acid analyses were performed in 3 cases, and no specific abnormalities were found. In case 3, the results of 3-O-methyldopa (3-OMD) screening by blood dry filter paper increased significantly. Cerebrospinal fluid neurotransmitter detection results showed that the concentrations of 3-methoxy-4-hydroxyphenyldiol, vanillic acid and 5-hydroxyindoleacetic acid were significantly decreased, while the levels of 5-hydroxytryptophan and 3-OMD were increased in case 3. Blood aromatic L-amino acid decarboxylase (AADC) activity decreased significantly in case 3. Cranial magnetic resonance imaging (MRI) and electroencephalogram (EEG) examinations were performed in cases 1, 3, and 4, among which the cranial MRI in case 1 was normal, while the cranial MRI in cases 3 and 4 suggested that myelination was slightly backward. The EEG was normal in all the 3 cases. Cases 1 and 2 died of pneumonia and respiratory failure at the age of 1 year and 10 months. Case 3 was given clonazepam, benxel hydrochloride tablets and vitamin B6 tablets orally after diagnosis at the age of 4 months, and then treated with selegiline hydrochloride tablets and pramexol hydrochloride tablets. At the follow-up of 1 year and 6 months, the frequency of eye movement crisis and movement disorder was reduced, sleep was improved and autonomic nervous symptoms were alleviated, but there was no improvement in developmental delay. Case 4 was diagnosed with cerebral palsy and epilepsy, but failed various antiepileptic drugs and rehabilitation training, and died at the age of 10 due to heart failure and kidney failure. Conclusions:The clinical manifestations of AADCD are complicated and the misdiagnosis rate is high. Infants with early-onset hypotonia, developmental retardation, eye movement crisis, and movement disorders should be screened with dry filter paper as soon as possible for 3-OMD level, and suspicious cases should be diagnosed by cerebrospinal fluid neurotransmitter detection, plasma AADC activity determination, and gene examination. Early diagnosis of AADCD in children and gene mutation carriers can guide treatment and provide genetic counseling to reduce the incidence of the offspring.

Structure of biliary system is complex as well as various, making troubles for optimal surgical treatment of biliary disease. Remarkable imaging of biliary system helps surgeon evaluating patients and planning surgeries. There are several methods to obtain accurate anatomical information of biliary system, such as X-ray fluoroscopy, MRI and fluorescence-based imaging. Each has its own advantages and disadvantages. Combination of multi-model imaging technologies may improve visual result of anatomical information of biliary tract. More resolvable, legible, and sequential imaging technology of biliary system remains further study. This article reviews various cholangiography methods widely used in the clinical setting.

Improper disposal of herb residues in China has caused severe problems to the surrounding environment and human safety. Three herb residues, i.e., compound Kushen injection residues (CKI) and part one and part two of Qizhitongluo Capsule residues (QC1 and QC2, respectively), were used for the cultivation of Pleurotus ostreatus. The effect of the supplementation of corncobs (CC) with different herb residues on yield, nutritional composition, and antioxidant activity of P. ostreatus was investigated. Compared to the control, the higher mycelial growth rate was observed on substrates CC +30% CKI and CC +30% QC1, while the higher yield was obtained from substrates CC +30% QC2 and CC +30% CKI. Moreover, chemical analysis of fruit bodies revealed that the addition of herb residues to CC significantly increased proteins, amino acids, ashes, minerals (Na and Ca), and total phenolic contents but significantly reduced carbohydrates and IC50 values of DPPH radicals. In addition, no heavy metals (Pb, Cd, and As) were detected in the fruiting bodies harvested from different substrate combinations. These results demonstrated that mixtures of CC with herb residues might be utilized as a novel, practical, and easily available substrate for the cultivation of P. ostreatus, which is beneficial for the effective management of herb residues.
Amino Acids ; Carbohydrates ; China ; Fruit ; Humans ; Inhibitory Concentration 50 ; Metals, Heavy ; Minerals ; Miners ; Phenol ; Pleurotus*

Objective To investigate the clinical characteristics,diagnosis and treatment of congenital tracheobiliary fistula (CTBF) in children.Methods A case of CTBF admitted into the Department of Pediatric Respiration,Hubei Maternal and Child Health Care Hospital in 2016 was reported,and the related literatures were reviewed.The clinical features,diagnostic methods,treatment status and clinical outcomes of the disease were analyzed.Results The patient was 3 years and 7 months old.The main clinical manifestations were recurrent cough,pneumonia and atelectasis.CTBF was diagnosed by means of iodine oil radiography and treated with biological glue plugging under bronchoscopic guidance.So far,only 30 cases of CTBF have been reported in the English literatures,but only 2 cases in the Chinese literatures.The main clinical manifestations were cough,dyspnea,sputum or bile vomiting,aspiration pneumonia,atelectasis or emphysema.Diagnostic methods for CTBF included bronchoscopy,bronchial angiography and cholangiography,hepatobiliary scan,CT scan and magnetic resonance imaging.Except for this case treated with biological glue plugging under bronchoscopic guidance,all other patients were treated with surgery.The operation methods included fistula ligation,gastrostomy,liver resection,fistula jejunum Roux-en-Y anastomosis,hepatic hilum jejunum anastomosis,gallbladder jejunum anastomosis,etc.Only 4 cases died,and the rest of the patients recovered.Conclusions CTBF should be suspected in children with persistent chronic cough.Iodine oil radiography through bronchoscopy is a simple and feasible method for diagnosis of CTBF.Besides surgery,the lavage and the biological glue plugging method through bronchoscopy is also an effective way to treat CTBF in children without severe biliary malformation.

Objective To study the safety and efficacy of ultrasound-guided puncture combined with surgical resection for liquefied cavitary hepatic alveolar echinococcosis (HAE).Methods A retrospective study was conducted on 17 patients who had liquefied cavitary HAE and were treated at the Affiliated Hospital of Qinghai University from January 2014 to August 2016.Ten patients were treated with ultrasound-guided puncture combined with surgical resection (the case group),and 7 patients were treated with resection (the control group).The basic characteristics,operation time,blood loss during operation,preoperative and postoperative laboratory tests and complications were compared between the 2 groups.Results There were no significant differences between the 2 groups in basic characteristics,such as age,gender,and lesion diameter (P ＞ 0.05).The operation time and blood loss during operation showed significant differences between the 2 groups,(308.0 ± 23.0) min (389.0 ± 95.7) min and (1 360.0 ± 182.9) ml vs.(1 607.1 ± 205.0) ml,respectively (all P ＜ 0.05).The prothrombin time (PT) after day 3 of operation and alanine aminotransferase level after day 5 of operation showed significant differences between the 2 groups,(13.8 ±0.9) s vs.(15.5 ±1.7) s and (81.9 ±20.9) U/L vs.(108.1 ±29.5) U/L,respectively (all P ＜ 0.05).There was no significant difference in postoperative complications between the 2 groups.Conclusions Ultrasound-guided puncture combined with surgical resection shortened the operation time,reduced blood loss and avoided serious complications after surgery.This treatment is efficacious and safe for liquefied cavitary HAE.

Objective:To establish a UVB damage cell model with HaCaT cells to investigate the protective effects of Zinc sulfate on the cell damage caused by UVB and its relevant mechanisms .Methods: The cells were divided into normal group , Zinc group,UVB group,Znic and UVB group.The addition of Zinc sulfate to the HaCaT cells was conducted 24h prior to the irradiation to the cells by UVB.Cell apoptosis was detected by Western blot and the expression of metallothionein and NF -κB/p65 were measured by im-munohistochemistry.Results:Compared with normal and Zn+UVB group, Bax/Bcl-2 rate in UVB group increased.Compared with normal group ,MT expression levels in UVB group ,Zn group increased ,and compared with UVB group ,MT expression level in Zn+UVB group increased .Compared with normal group and Zn+UVB group,NF-κB/p65 expression level in UVB group increased .Conclusion:Zinc sulfate alleviates the apoptosis of HaCaT cell induced by UVB because of the expression of MT .

Objective The aim of this study is to explore the reasons and the main affecting factors of the reported tuberculosis (TB) patients by internet-based reporting system who failed to the Center for Disease Control and Prevention (CDC) for diagnosing and treating in Yunnan Province, so as to provide scientific evidence for constituting reasonable countermeasures and measures to improve the rate of the reported TB patients coming to CDC for diagnosing and treating. Methods Randomly sampled 730 tuberculosis patients by cluster sampling, surveyed by the questionnaires and logistic regression was used for data analysis. Results The main influencing factors were migrant, having no referring form of doctors, having no advice of doctors to CDC,having no financial problem, unbelieving TB harm to health, unknowing free treating policy of TB,untrusting CDC,unbelieving free medicine, hospitalization and unknowing the CDC address,with odds ratios of 3.234,0.438,0.065,0.056,0.117,0.153,0.336, 6.587,9.685 and 1.991, respectively .Conclusion To improve the rate of coming to CDC for diagnosing and treating, should take some integrated measures as follows: strengthening TB health promotion, strengthening referring program, strengthening communication between doctors and patients, and strengthening propaganda on CDC.

In order to improve ferment efficiency of biocontrol agent Burkholderia pyrrocinia JK-SH007, the fermentation conditions of this strain were optimized. The optimal fermentation conditions were corn steep liquor (13.88 g/L) and glucose (3.37 g/L) by screening test, steepest ascent experiments and response surface analysis. The results showed that the cell density of JK-SH007 (1.18 x 10(9) CFU/mL) increased 1.35 times than before, and there was a 28.84% increase in antifungal activity.
Biological Control Agents ; Burkholderiaceae ; growth & development ; Fermentation ; Glucose ; chemistry ; Surface Properties ; Zea mays ; chemistry

Objective To evaluate Western blot analysis in diagnosing limb-girdle muscular dystrophy type 2A (LGMD2A). Methods The clinical records including their pathological and biochemical results of 4 patients with LGMD type 2 were reviewed. Histochemical and immunohistochemical staining were performed on muscle biopsy specimens from the four patients. The expressions of dysferlin and calpain-3 in muscles were analyzed by Western biol. Results All 4 LGMD patients shared some common clinical features, such as dorsal muscular atrophy of lower limbs and remarkably elevated CK. The immunohistochemical results showed partial or complete deficiency of dysferlin staining in all 4 LGMD patients. However, Western blot revealed that the calpain-3 protein in the muscle of patient 1 was completely absent, who was later diagnosed with LGMD2A. The other 3 patients had complete dysferlin deficiency with reduced calpain-3 expression and they were confirmed to be LGMD2B. Conclusions Western blot analysis of calpain-3 and dysfcrlin can be used to differentiate LGMD2A which shows absence of calpain-3 from other LGMD types which show dysferlin deficiency. Western blot is an invaluable method in clinical diagnosis of LGMD2A.