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Follow-up is a crucial step for the screening of neonatal genetic and metabolic diseases, which can directly influence the detection, diagnosis, efficacy of treatment, as well as the quality of neonatal screening. In view of the lack of follow-up, full understanding, and inconsistent requirement between various agencies and personnel in China, there is an urgent need for standardization. The Committee for Proficiency Testing of the Neonatal Genetic Metabolic Disease Screening Center of the National Health Committee of China has organized the writing of expert consensus for follow-up of neonatal genetic and metabolic disease screening after thorough discussion, so as to guide the follow-up work and improve its quality.
Subject(s)
Humans , Infant, Newborn , China , Consensus , Follow-Up Studies , Genetic Diseases, Inborn , Diagnosis , Metabolic Diseases , Diagnosis , Genetics , Neonatal ScreeningABSTRACT
Objective To study the characteristics of hyperphenylalaninemia (HPA) and the differences in blood and urine metabolic index and their correlation.Methods A total of 137 patients with HPA diagnosed by the Pediatric Inherit Metabolism and Endocrine Department,Guangdong Women and Children's Hospital,Guangzhou Medical University from January 2014 to June 2017,were enrolled.Tandem mass spectrometry (MS/MS),gas chromatography/ mass spectrometry (GC-MS) and high performance liquid chromatography (HPLC) were used to analyze the concentration of blood and urine metabolites in children,and the patients were divided into different groups according to the drug load test of tetrahydrobiopterin (BH4) and dihydrobiopterindine reductase (DHPR) deficiency.The HPA metabolite analysis of horizontal concentration by statistical differences and correlation analysis were performed.Results Among the 137 cases of HPA,there were 101 cases (73.7％) of phenylalanine hydroxylase deficiency (PAH),and among them 21 cases (15.3％) were classic phenylketonuria (PKU),37 cases were mild PKU (27.0％),43 cases (31.4％) wcrc mild HPA.Thcrc were 22 cases (16.1％) with BH4 reaction,and 79 cases (57.7％) of non-reactive type.Besides,there were 36 cases (26.3％) of tetrahydrobiopterin deficiency (BH4 D),of which 6-pyruvoyl tetrahydropterin synthase deficiency (PTPS) in 34 cases (24.8％) and dihydrobiopterindine reductase deficiency (DHPR) in 2 cases (1.5％).Urinary phenylacetic acid (r =0.673,P ＜ 0.01),phenyllactic acid (r =0.736,P ＜ 0.01),phenylpyruvic acid (r =0.642,P ＜ 0.01) were significantly correlated with blood phenylalanine (Phe) concentration,and the neopterin (N) (r =0.442,P ＜ 0.01) and biopterin (B) (r =0.398,P ＜ 0.01) had low correlation.Urinary phenylacetic acid,phenyllactic acid and phenylpyruvic acid had no correlation with urinary pterin.There were significant differences among PTPS deficiency group,BH4 response type,and non-reactive type(all P ＜ 0.05),but no significant difference between the BH4 reaction type and the non-reactive group (P ＞ 0.05).Conclusions Through the analysis of the different types of HPA metabolic profiles,it can help to master the incidence and characteristics in the region,within a certain concentration range of blood Phe,the phenylacetic acid,phenyllactic acid,phenylpyruvic acid should not be tested by GC-MS alone.Uterine erythropoietin analysis of BH4D classification and identification of BH4 reaction,non-reactive PKU have a supporting role,so master the metabolic index of various types of concentration and relevance of HPA,it can provide basis for early diagnosis,accurate treatment and follow-up.
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Objective To investigate the Preventive effect of sodium hyaluronate gel on postoperative adhesion of hysteroscopic intrauterine adhesions. Methods 84 cases of IUA patients undergoing hysteroscopy were retrospectively selected,and divided into two groups according to the different ways of prevention and control of IUA,42 cases in each group.The control group was treated with Foley balloon catheter after operation,the study group was treated with sodium hyaluronate gel prevention on the based of control group.The clinical signs of the patients before and after treatment one,two and three months were observed,the therapeutic effects and complication were compared between two groups. Results After treatment one,two and three months,the adhesion type score and the score scale of study group, were significantly decreased,and lower than the control group,the difference was statistically significant (P<0.05).The total effective rate of the study group was 90.48%,which was significantly higher than that of the control group (83.33%),the difference was statistically significant (P<0.05).In the course of treatment,the complication rate of the two groups was 11.90% (5/42),there was no significant difference between the two groups in the incidence of complications. Conclusion Hyaluronic acid sodium gel on hysteroscopic intrauterine adhesions in patients with postoperative adhesions have a significant preventive effect,can improve the treatment efficiency and clinical signs,and with high security.
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The patient was a 21 days-old baby girl,admitted to Guangdong Women and Children Hospital because of "poor intake,seldom crying and no activity in 1 day".The major clinical manifestations included hypotonia,aggravation of the conscious disturbance,pancytopenia,intractable acidosis and hyperammonemia,so,inherited metabolic disorders should be considered.Screening of inherited metabolic diseases with blood and urine samples,genetic test and active treatments were carried out.After targeted next-generation sequencing,a novel homozygotic frame shift mutation in PCCB gene:c.838_839insC (L280Pfs * 11) was identified,which was validated by Sanger sequencing.This mutation had not been reported in the mutation database,and bioinformatic analysis of this mutation indicated disease-causing.So,the diagnosis of propionic acidemia was identified.The baby was in a critical condition,and despite active treatment,her conscious disturbance was aggravated,and the spontaneous breathing disappeared.Subsequently,the baby died of pneumonia.Propionic acidemia is a relatively common genetic metabolic disease in newborns.The severity and the clinical phenotypes of propionic acidemia varied,which often made the diagnosis difficult.When the baby is presented with developmental delay,hypotonia,recurrent convulsion and vomiting,etc,which can't be explained by common diseases of children,propionic acidemia may be considered.Next generation sequencing analysis of the complicated cases can easily to pinpoint a disease-causing gene,which lays a solid foundation for accurate diagnosis and treatment of the patients.
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A novel 2-( 2’-hydroxy-5’-chlorophenyl )-6-chloro-4 ( 3 H )-quinazolinone ( ELF-97 )-based fluorescent probe (P1) for hydrogen peroxide was prepared from 5-chlorosalicylaldehyde, 4-(bromomethyl) phenylboronic acid and 2-amino-5-chlorobenzamide, and its structure was characterized by 1 H NMR, 13 C NMR and HRMS. Weak fluorescence intensity was observed at 425nm when the solution of probe P1 was excited by 360 nm UV light. After addition of H2 O2 , however, emission peak at 425 nm disappeared while strong peak emission at 515 nm appeared with the same excitation wavelength ( 360 nm ) . The fluorescence intensity at 515 nm was dependent on the concentration of H2 O2 in the linear response range of 5-45 μmol/L. The detection limit of H2O2 was 0. 1 μmol/L (S/N=3) and the recovery rates of added H2O2 in milk were in the range of 94 . 0%-106 . 0%. Probe P1 was potential to become a useful tool for rapid detection of hydrogen peroxide.
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Objective To investigate the clinical significance of thyroglobulin(TG) and thyroglobulin antibody (TGAb) in differential diagnosis between nodular goiter and differentiated thyroid carcinoma(DTC).Methods From Jan.2006 to Jan.2007,180 cases of thyroid carcinoma were included in group A(male:45,average age:47 ; female:135,average age:43)and 150 cases of nodular goiter were included in group B (Male:55,average age 43 ; female:95,average age:41).All the cases came from the General Department of Chengde Central Hospital.Group C (the control group) included 120 cases (male:40,average age:38 ; female:80,average age:44).All patients underwent thyroids ultrasound,thyroid function detection and CT.Results The positive rate of TG and TGAb was 40.0％ and 43.3％ in group A,which were obviously higher than those in group B (7.33％,9.33％)and group C(4.17％,7.50％).The difference had statistical significance(P ＜0.05).However,there was no statistical difference between group B and group C (P ＞ 0.05).Conclusion The measurement of TG and TGAb has clinical significance in differential diagnosis between DTC and nodular goiter.
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@#Objective To observe the effect of acupuncture, neuromuscular electrical stimulation and swallowing training on acute stroke patients with dysphagia and the incidence of post-stroke pneumonia (PSP). Methods Acute stroke patients with dysphagia were divided into 3 groups. Routine group (n=188) received routine swallowing training. Stimulation group (n=196) received routine swallowing training and neuromuscular electrical stimulation. Acupuncture group (n=112) received routine swallowing training, neuromuscular electrical stimulation, and acupuncture. The incidence of improvment of dysphagia and PSP, and the improvement of National Institutes of Health Stroke Scale (NIHSS) within 3 weeks were compared. They were followed up for 3 months for the incidence of PSP. Results The incidence of improvment of dysphagia was the most in the acupuncture group (P<0.05), while the incidence of PSP was the least (P<0.05). The improvement of NIHSS was the most in the acupuncture group (P<0.05). The incidence of PSP was not significantly different (P>0.05) within 3 months followed up. Conclusion The acupuncture, neuromuscular electrical stimulation and swallowing training combination can improve the swallowing function and decrease the incidence of PSP in stroke patients with dysphagia.
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Objective To detect PAH gene mutations in classical PKU patients by HRM analysis. MethodsMutation scanning of PAH gene were performed in 17 classical PKU patients by HRM analysis ( LightScanner), covering the 13 exons and exon-intron boundaries. The HRM results were further confirmed by DNA sequencing, and the sensitivity and specificity of HRM method in PKU diagnosis were also evaluated. In addition, prenatal diagnosis was performed in two fetuses at risk for classical PKU. Results In the 17 patients, two mutations were identified in 16 patients, three mutations were identified in 1 patient.In this subject, a total of 22 different pathogenic mutations : 194V( c. 280A ＞ G), IVS4nt-1 G ＞ A( c. 442-1G ＞ A), R158Q( c. 4736 ＞ A), Q160X( c. 478C ＞ T), W187X( c. 561G ＞ A), E6nt-96A ＞ G( c. 611A ＞G), G239D( c. 716G ＞ A), R241 C( c. 721C ＞ T), R243Q( c. 728G ＞ A), G247R (c. 739G ＞ C), G247V (c. 740G＞T), R261X(c. 781C ＞T), PR261Q(c. 782G ＞ A), H264R (c. 791A ＞ G), F302fsX39 (c. 904delT), E305K( c. 913G ＞ A), G312V( c. 935G ＞ T), Y356X( c. 1068C ＞ A ), V399V ( c. 1197A ＞T), R408Q(c. 1223G ＞ A), T418P(c. 1252A ＞ C) , A434D(c. 1301C ＞ A), 3 silent mutations Q232Q (c. 696G ＞ A), V245V(c. 735G ＞ A), L385L(c. 1155C ＞ G), and one single nucleotide polymorphism rs2280615 ( c. 402A ＞ C) were identified, of which 194V ( c. 280A ＞ G), Q160X ( c. 478C ＞ T), H264R (c. 791A ＞ G), G312V( c. 935G ＞ T) and E305K ( c. 913G ＞ A) were novel mutations identified in PAH gene. The prenatal diagnosis results of the two fetuses : one was diagnosed as normal, the other was diagnosed as a carrier. In this study, the sensitivity and specificity for mutation detection by HRM were 100％, and the HRM results were consistent with DNA sequencing results. Conclusions HRM analysis is a simple,accurate, rapid, high-throughput and low-cost genetic analysis approach. It could be applied to mutation scanning of classical PKU of PAH gene and rapid prenatal diagnosis in parents with known mutations.
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Objective To develop a phenylketonuria (PKU) screening method based on a compact disk (CD) type microfluidic chip capable of generating reciprocating flow within the microchannels that facilitate rapid DNA hybridization. Methods This microfluidic device consists of a two-layer structure: a polydimethylsiloxane (PDMS) top layer containing 12 DNA hybridization microchannels, and a bottom glass layer with immobilized hydrogel conjugated DNA arrays. The DNA arrays included R243Q, V245V and the blank control probes. When the CD device was spun, the PCR products were driven into the hybridization channel by centrifugal force. When the rotation of the CD device was stopped, capillary force pulled the PCR products solution to flow back to the channel. After the on-chip hybridization, the hybridization signals were captured on a fluorescence microscope. The specificity, detection limitation and reproducibility of this device were evaluated. Thirty DNA samples from pregnant women with suspected PKU were detected by this device.Then the results were compared with DNA sequencing results. Results With the compact disk type microfluidic chip, the hybridization time could be reduced to 15 min, sample consume could be as low as 1. 5 μl and the detection limitation was 0. 7 ng/μl. With the chip based method, samples of PKU patients and healthy controls were detected and the results were consistent with DNA sequencing results. Five different batches of chips and five micro-channels of each chip were selected to test one PKU patients with V245V mutation. All the results were positive, indicating good reproducibility. Four cases of V245V mutation and 1 case of R243Q mutation were found in 30 suspected PKU carried pregnant women. Conclusion The compact disk microfluidic device has advantages of simple, rapid and highly sensitive, thus is well suited to PKU screening.
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A novel and highly sensitive voltammetric enzyme-linked immunosensor was developed based on tyramine) oxidation deposition. It was shown that gold nano-particles(colloid Au) could be used as a platform to immobilize antibodies by adsorption. By a sandwich immunossary format with goat-anti-human IgG labled Horseradish peroxidase(HRP) as the second antibody and catalytic amplification by biotin-tyramine, the immunosensor′s) catalytic ability to hydrogen peroxide increased nearly 20 times), the sensor exhibitd a linear response to human IgG in the concentration range from 1.5 μg/L-22 mg/L, and the detection limit was 0.1 μg/L), the regression equation could be expressed as Δi_p(μA) =2.8859c(mg/L)+17.152 with a correlation) coefficient of 0.9872. The immunosensor can be used to quantitatively determine hIgG in the sample) of human serum).
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A novel simple,sensitive fluorescence immunosensing method based on aptamer-plasmid complex amplification was developed. This method utilized the specific recognition between antibody and antigen as well as aptamer-plasmid complex and the intercalation of fluorescence dye SYBR Green Ⅰ in the groove of duplex plasmid DNA in detection of Platelet-Derived Growth Factor BB (PDGF-BB). The immunoassay was performed in the microtiter wells in which rabbit anti PDGF-BB antibody was immobilized. The PDGF BB analyte was captured by the primary antibody and then sandwiched by the aptamer-plasmid DNA complex. The introduction of fluorescence dye SYBR Green Ⅰ allows for the detection of the sandwiched immunocomplex of antibody/anigen/aptamer-plasmid complex. Under the optimized conditions of salt concentration,ratio of aptamer to PUC19,and SYBR Green Ⅰ concentration,the proposed method offers a linear detection range from 0.2 μg/L to 200 μg/L with a detection limit of 0.1μg/L.
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As an emerging tumor therapy, high intensity focused ultrasound (HIFU) therapy has difficulty in controlling its dosage due to the complex human tissues. The dosage is related to the tumor such as its depth, size, characteristics and the tissue performances of its growth site. The existing cases are applied to establishing a repository with the above-mentioned parameters of the tumor analyzed. Then reasoning and self-learning are performed. So, the therapeutic dosage can be provided to the clinician when a new case occurs.
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Objective To establish the methods for neonatal screening of glucose 6 phosphate dehydrogenase (G6PD) deficiency. Methods G6PD activity was measured by using fluorescence spot test (FST) with the dry blood sample on the filter paper for neonatal screening. G6PD/6PGD rate test of venous blood samples was further performed for confirmation. Results The positive G6PD deficiency rate was 4.2% and its detection rate was 3.7% in FST for neonatal screening. The conformation rate of FST with G6PD/6PGD rate test for G6PD deficiency was 86.8% and 100% particularly in severe deficiency groups. Both sensitivity and specificity were very high in severe deficiency groups. Conclusions FST is used in neonatal screening of G6PD deficiency because of its high accuracy, applicability, and simplicity Morover, it can test lots of dry blood samples on the filter paper. It is very favorable to diagnose and treat G6PD deficiency early in high incidence districts.