Screening strategy and genetic mutation analysis of citrin deficiency among newborns in Xuzhou / 中国新生儿科杂志

Objective:To study the incidence, clinical features and genetic mutation profiles of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) using screening strategy.Methods:From September 2015 to September 2020, neonates in Xuzhou area were prospectively screened for genetic metabolic diseases using tandem mass spectrometry. Suspected infants were further confirmed using urinary organic acid test and SLC25A13 gene mutation analysis. The clinical manifestations, biochemical and gene mutation results, treatment and prognosis of the confirmed cases were analyzed.Results:A total of 468,494 live-birth newborns were screened with 112 cases suspected and 95 cases received urinary organic acid test and SLC25A13 gene mutation analysis. 13 cases of NICCD were diagnosed with a prevalence of 1/36,038. Most confirmed cases presented with delayed disappearance of neonatal jaundice, feeding difficulties and poor weight gain. Biochemical changes included increased bile acid, abnormal liver enzymes, increased alpha-fetoprotein, hypoglycemia, decreased hemoglobin, abnormal coagulation function and increased blood ammonia. Tandem mass spectrometry showed increased citrulline, methionine, arginine, tyrosine and phenylalanine, and in some cases with slightly increased acylcarnitine. Urine organic acid analysis mainly showed increased 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvate. All confirmed cases received genetic mutation tests and a total of 13 mutation loci were detected, including c.852_855delTATG, c.511dupG, c.1638_1660dup, IVS16ins3kb, c.1078C>T, c. 615+5G>A, c.742G>A, c.44G>A, c.1311+1G>A, c.1399C>T, c.889G>T, c.1177+1G>A, c.1841+3_1841+4del, among which, c.852_855delTATG was the most common one. A total of 5 novel mutation loci were discovered in this study with c.1841+3_1841+4del, c.511dupG and c.889G>T predicted as pathogenic variants. Special formula of lactose-free and fortified medium-chain triglyceride (MCT) were used in confirmed cases and most of the symptoms were relieved within 1 year and abnormal indicators significantly improved.Conclusions:The prevalence of NICCD in Xuzhou was 1/36,038. c.852_855delTATG mutation is the most frequent one. Five novel mutation loci are discovered, expanding the SLC25A13 gene mutation spectrum. Most infants with NICCD have a good prognosis, requiring early diagnosis, treatment and life-long follow-up.

Clinical phenotypes of primary ciliary dyskinesia / 中南大学学报(医学版)

Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to 1꞉20 000. The main respiratory manifestations in children are cough, expectoration, chronic rhinitis, sinusitis, and chronic otitis media, while the most common symptoms in adults are chronic sinusitis, bronchiectasis, and infertility. About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital heart disease is also high. The pathogenesis behind PCD is that gene variants cause structural or functional disorders of respiratory cilia and motile cilia of other organs, leading to a series of heterogeneous clinical manifestations, which makes it difficult to identify and diagnose PCD. Combining different disease screening tools and understanding the relationship between genotypes and phenotypes may facilitate early diagnosis and treatment for PCD.

Clinical characteristics and genetic analysis of isobutyryl CoA dehydrogenase deficiency in Xuzhou:population screening results / 中国新生儿科杂志

Objective:To study the clinical features and genetic characteristics of isobutyryl-CoA dehydrogenase deficiency (IBDD) of neonates in Xuzhou area.Methods:From October 2016 to October 2021, neonates diagnosed with IBDD using tandem mass spectrometry in Xuzhou area were retrospectively studied. Their clinical phenotypes and genotypes, clinical diagnosis, treatment and follow-up were analyzed.Results:A total of 510 057 neonates were screened and 10 cases of IBDD were diagnosed. The 10 IBDD cases showed increased butyryl carnitine (C4), C4/C2 and C4/C3 during screening and follow-up tests. One case had transient elevated transaminase and one case showed delayed language development. The other 8 cases were otherwise normal. A total of 16 mutation loci of acyl-CoA dehydrogenase 8 (ACAD8) gene were found, including 10 unreported loci: c.567+8C>T, c.213G>T, c.553C>T, c.1190T>C, c.1060G>A, c.494G>A, c.771C>A, c.962A>T, c.715A>G and c.731G>A. Genetic mutations were found in Exon 3, Exon 4, Exon 5, Intron 5, Exon 7, Exon 9 and Exon 10. The hot spots of mutations were c.1176G>T, c. 286G>A and c.1000C>T.Conclusions:IBDD is a rare disease without specific clinical manifestations. Neonatal metabolic disease screening combined with urinary organic acid tests and genetic sequencing can be used for early detection and diagnosis of IBDD. No serious adverse outcome is found in IBDD patients during short-term follow-up, however, long-term follow-up is recommended.

Quality monitoring and evaluation of neonatal diseasescreening in Zhejiang Province / 预防医学

Abstract@#Neonatal disease screening is a major tool for prevention of birth defects, and monitoring and evaluation of neonatal disease screening facilitates the improvements in screening quality and efficiency. A strict quality control of screening, diagnosis, treatment and follow-up of neonatal diseases is performed in Zhejiang Provincial Center for Quality Control of Neonatal Disease Screening. In this study, the data pertaining to screening of neonatal inherited metabolic diseases, hearing loss and congenital heart diseases were collected in Zhejiang Province from 2018 to 2020, and the screening rate, recall rate of suspected screening-positive neonates, and detection rate of diseases were calculated to assess the quality of neonatal disease screening. The screening rate and recall rate of neonatal inherited metabolic diseases, hearing loss and congenital heart diseases were high in Zhejiang Province, and the detection of screened diseases was stable, indicating a high overall quality of neonatal disease screening. Increasing the impact of neonatal disease screening and consolidating the screening achievements should be given a high priority during the future quality control of neonatal disease screening in Zhejiang Province.

A study to identify obstructive sleep apnea syndrome based on 24 h ambulatory blood pressure data / 生物医学工程学杂志

Sleep apnea causes cardiac arrest, sleep rhythm disorders, nocturnal hypoxia and abnormal blood pressure fluctuations in patients, which eventually lead to nocturnal target organ damage in hypertensive patients. The incidence of obstructive sleep apnea hypopnea syndrome (OSAHS) is extremely high, which seriously affects the physical and mental health of patients. This study attempts to extract features associated with OSAHS from 24-hour ambulatory blood pressure data and identify OSAHS by machine learning models for the differential diagnosis of this disease. The study data were obtained from ambulatory blood pressure examination data of 339 patients collected in outpatient clinics of the Chinese PLA General Hospital from December 2018 to December 2019, including 115 patients with OSAHS diagnosed by polysomnography (PSG) and 224 patients with non-OSAHS. Based on the characteristics of clinical changes of blood pressure in OSAHS patients, feature extraction rules were defined and algorithms were developed to extract features, while logistic regression and lightGBM models were then used to classify and predict the disease. The results showed that the identification accuracy of the lightGBM model trained in this study was 80.0%, precision was 82.9%, recall was 72.5%, and the area under the working characteristic curve (AUC) of the subjects was 0.906. The defined ambulatory blood pressure features could be effectively used for identifying OSAHS. This study provides a new idea and method for OSAHS screening.

Screening results of neonatal diseases and exploration of management mode in Yichang in 2017-2019 / 公共卫生与预防医学

Objective To retrospectively analyze the results of neonatal diseases screening in Yichang from 2017 to 2019, understand the incidence and recall of the diseases, and explore the management mode of neonatal disease screening suitable for this region. Methods The subjects were newborns who were delivered in Yichang midwifery institutions from 2017 to 2019 and were screened for neonatal diseases. Heel blood of the newborns was collected for the screening of neonatal diseases, including congenital hypothyroidism (CH), phenylketonuria (PKU), G6PD deficiency, congenital adrenal hyperplasia (CAH) and thalassemia. Those newborns with positive initial screening were recalled for reexamination and confirmation. The recall rates of different diseases were compared by Chi-square test. Results There were 85 891 live births in Yichang area from 2017 to 2019, and 84 063 cases were screened for neonatal diseases, with a screening rate of 97.87%. A total of 6 043 cases were positive in the initial screening, of which 5,047 cases were recalled, with a recall rate of 83.52%. The recall rates of the traditional two diseases (CH and PKU) and the new three diseases (CAH, G6PD deficiency and thalassemia) were significantly different ( χ2= 197.93, P＜0.01). A total of 501 cases were diagnosed. The incidence rate of CH was 1/1,911, the incidence rate of PKU was 1/12 009, the incidence rate of CAH was 1/28 021, the incidence rate of G6PD deficiency was 1/1 121, and the incidence rate of thalassemia was 1/226. Conclusions The neonatal disease screening rate increased year by year in Yichang, but the recall rate of suspicious positive initial screenings decreased. It is necessary to explore a more suitable management mode for the five neonatal disease screenings in this region, improve the recall rate of children with positive screening, reduce the incidence of disabled children, and improve the quality of the birth population.

Application of tandem mass spectrometry in newborn genetic metabolic disease screening / 中华检验医学杂志

Inherited metabolic disorders, also known as congenital metabolic diseases, refer to a group of diseases that cause a series of clinical symptoms due to gene mutations, such as enzyme deficiency, dysfunction of cell membrane or receptor deficiency, resulting in biochemical metabolic disorders, accumulation of intermediate or bypass metabolites, or lack of final metabolites. Inherited metabolic disordersoften occur in childhood, progressively aggravating, irreversible nervous system damage, and even death. Tandem mass spectrometry (MS/MS) has been widely used in newborn screening abroad and in China. This technology not only expands the screening spectrum of newborn screening, but also improves the screening efficiency, specificity and sensitivity, which opens up a new field for disease screening. With deepening the understanding of the mechanism of inherited metabolic disorders and mass spectrometry technology, its clinical application becomes more significant in diseases screening and diagnosing.

Application of blended learning mode based on SPOC in teaching diseases screening session for preventive medicine / 中华医学教育探索杂志

Objective Based on small private online course (SPOC), the flipped classroom that integrates various teaching models can combine the advantages of different methods, which needs to be further discussed and practiced in the university classroom, especially in medical education. Methods This study took two classes of grade three majoring in clinical medicine as targets to apply the team-based learning and flipped classroom based on SPOC in the course of diseases screening for preventive medicine. We prepared teaching video, proposed questions, assigned student discussions, and carried out online communications before the classes. During the classes, we organized small tests, and applied team-based reports, discussions and teachers' evaluation. The responses of students were collected by questionnaires after the classes. We evaluated the teaching effectiveness basing on questionnaire results. Chi-square test and Fisher exact test were performed in the analysis of impact factors on students' preferred learning mode. Results We received 81 effective questionnaires. A total of 75.31％ students (61/81) thought the blended learning mode was interesting. Majority (93.83％, 76/81) of them believed this type of learning was helpful to understand the concept. Comparing with traditional classroom, students who felt interesting were more likely to choose the blended learning mode, and the difference was of statistical significance ( χ2=6.01, P=0.028). Students who felt helpful and spent less time in preparation preferred the blended learning mode. Conclusion Blended learning mode avoids many disadvantages of traditional classroom and can improve learners' interest, motivation and sense of participation, providing an effective way to improve the quality of medical education.

Neonatal eye disease screening and early intervention method / 国际眼科杂志(Guoji Yanke Zazhi)

·AIM: To investigate the incidence of neonatal eye disease, early intervention and follow-up observation. ·METHODS: Totally 9 654 newborns born in our hospital from December 2015 to December 2017 were screened for ophthalmic diseases and symptomatic interventions, and the results were statistically analyzed. ·RESULTS: There were 8 467 newborn infants ( 8 532 eyes) who were screened, accounting for 87. 70% of the total; 7 047 of the normal group accounted for 89. 94% for this group, and 1 420 of the high risk group accounted for 78. 06% for this group. Screening found that some newborns had congenital and acquired ophthalmic diseases. ·CONCLUSION: The screening of newborns for eye diseases can detect the abnormalities of newborns' eyes as soon as possible and intervene to improve the efficacy and accuracy of the treatment. Especially for high-risk neonates, eye screening is even more necessary.

Feasibility and effectiveness of a health examination center-based opportunistic eye diseases screening / 中华实验眼科杂志

Background Blindness and low vision represent significant public health issues in China.Late diagnosis is the major reason for the irreversible vision impairment.A feasible,cost-effective screening and referral program is very important for the eye health care,prevention and treatment of blindness in China.Objective This study was to evaluate the feasibility and effectiveness of a health examination center-based opportunistic eye disease screening program.Methods This was a cross-sectional study.Subjects undergoing a routine physical examination at the health examination center of the Fourth People's Hospital of Shenyang were invited to attend this program.Presenting visual acuity,intraocular pressure,and nonmydriatic fundus photography were obtained.Optic diso photographs were evaluated independently by two ophthalmologists.Blindness and moderate to severe vision impairment were defined based on the criteria of World Health Organization Visual Impairment Classification in 2009.Glaucoma,diabetic retinopathy (DR) and other suspected eye diseases were diagnosed according to the fundus photography and intraocular pressure.This study was approved by Ethic Committe of the Fourth People's Hospital of Shenyang,the informed consent of each subject was obtained.Results Totally,15 303 subjects were enrolled and 15 197 of them finished the exanimations,giving a response rate of 99.3％.The overall percentage of blindness and moderate to severe visual impairment was 0.08％ (12/15 197) and 2.34％ (355/15 197).Two hundred and twenty-eight (1.50％) subjects were defined as glaucoma suspects and 80 individuals (0.53％) were diagnosed as epimacular membrane.Other suspected eye diseases included DR (0.41％),branchial retinal vessel occlusion (0.24％),macular degeneration (0.09 ％),and macular hole (0.06％).More than 95 ％ of the eye disease suspects have never been previously diagnosed or treated.A total of 358 subjects (2.36％) were defined as ocular hypertension suspects.Conclusions This health examination center-based opportunistic eye disease screening shows a good efficiency and feasibility.It may become an optional program in the national eye health care project,as well as the work of prevention and treatment of blindness.

Nasopharyngeal Carcinoma: An Awareness and Screening Initiative in Boston’s Chinatown.

Aims: Our objective is to describe our institutional experience with nasopharyngeal carcinoma (NPC), and the initiation of a community education and screening program. Study Design: Retrospective case series; academic medical center. Methodology: All cases of NPC treated at our institution between 1995 and 2009 were included; in total, 63 consecutive cases. Initially a retrospective review of patient characteristics was performed (Phase 1). Information reviewed included stage at presentation, completion of primary treatment and follow-up greater than 1 year. Findings of Phase 1were interpreted as demonstrating an issue in communication between the medical center and the community of patients at large. As such, a community education and screening program was instituted as part of an attempted community outreach program (Phase 2). The primary goals were to increase awareness about this disease, symptoms requiring evaluation and to educate patients about the resources available to them. Results: At the time of diagnosis, 67% of patients with NPC presented with advancedstage (III,IV) disease. Of the patients treated with curative intent, only 76% fully completed their plan of treatment. Also of note, only 60% of patients were seen in follow-up at 1-year post-treatment. A community education and screening program was initiated in order to address a presumed gap in provider-patient communication. To date a total of 176 patients have been screened; with approximately 10% warranting further diagnostic evaluations. Conclusions: Although NPC is an unusual diagnosis in the United States, it is a common entity in the immigrant Cantonese population that live in Boston’s Chinatown. A review of the characteristics of our patient population with NPC led to a community awareness and screening initiative, which has sought to achieve earlier diagnosis and improved continuity of care for patients.

Implementation of Health education path in neonatal disease screening / 上海预防医学

To investigate the implementation effect of health education path in neo-natal disease screening , then promoting popularization and development of neonatal disease screening . [ Methods] The health education path was worked out for neonatal disease screening .A total of 986 cases of single birth mothers and their newborns were as the observation group , in which the path of health educa-tion was implemented for them .And 1 052 cases of single birth mothers and their newborns were as the con-trol group, in which the traditional method of health education was done .Comparison was made between the two groups in neonatal disease screening rate , positive recall rate , degree of parturient about understanding and mastering the knowledge of neonatal disease screening , parturient satisfaction and parental satisfaction . [ Results] The neonatal disease screening rate , positive recall rate , degree of parturient about under-standing and mastering the knowledge of neonatal disease screening , parturient satisfaction and parental satisfaction were all better in the observation group than those in the control group ( P <0.05 ). [ Conclusion] The health education path for neonatal disease screening can effectively promote its devel-opment and popularization .

Application of discriminant analysis in the screening of cytomegalovirus pneumonia / 国际儿科学杂志

Objective To look for a reliable and convenient judgement criteria for the screening of cytomegalovirus pneumonia in order to reduce misdiagnosis and resulted mistherapy.Methods Process collected data on fifty-six cytomegalovirus pneumonia and forty-two common viruses induced asthmatic bronchitis cases by use of discriminant analysis to construct prediction model of diagnosis result.Results Only three indexes including age,lymph count and platelet count were selected into the model via sift.The performance of the established screening model showed as follows:sensitivity was 80.36％,specificity was 80.95％,misdiagnosis rate was 19.05％,false negative rate was 19.64％,diagnostic accordance rate was 80.61％.Conclusion Being concise and of strong maneuverability and high accuracy in prediction,cytomegalovirus pneumonia diagnosis model constructed through discriminant analysis can provide powerful screening means for medical staff.

Screening and short-term follow-up of newborns and mothers with primary carnitine deficiency / 中华内分泌代谢杂志

ObjectiveTo explore the screening and therapeutic efficacy of primary carnitine deficiency (PCD) in newborns and mothers.Methods164245 newborns and suspected mothers were investigated for PCD by tandem mass spectrometry (MS/MS).The overall epidemiology,prognosis,and follow-up of the screening program were investigated.ResultsTotally 55 suspected cases were identified at the primary screening stage.Four newborns and three mothers were confirmed as cases of PCD.The incidence rate of newborns was 1 ∶ 40076.All the patients showed normal growth and development during the follow-up.Blood free carnitine level was raised in all three mothers after treatment.ConclusionsScreening for PCD with MS/MS in newborns may represent a valuable procedure in preventive medicine by enabling early diagnosis and treatment before the onset of symptoms.This protocol is also highly efficient and applicable in diagnosis of mothers with PCD.

Screening Analysis of 93 Children with Phenylketonuria in Gansu Province / 实用儿科临床杂志

Objective To explore the diagnosis and curative effect of phenylketonuria(PKU) in Gansu.Methods Fifty-nine thousand nine hundred infants and 118 borderline cases were screened from Oct.1999 to Dec.2006.Three drops of venous blood was collected from the exterior or interior part in the heel,and trickled the venous blood onto the specialized filter paper,which could be formed into 3 bloodstains with the diameter of 0.8-1.0 cm.Phenylalanine(phe) was detected by chemiluminescence method,and PKU was screened by the PKU standard of diagnosis.Infants with PKU had been given low phe food.During the treatment,phe level,physical development and intellectual development were measured regularly.Patients′ body weight,height and head circumference were measured once 1 month.Patients′ intellectual quotient(IQ) were measured every half year(IQ was analyzed by Gesell test).Results were analyzed by SPSS 11.0 software for t test.Results In total,93 patients with PKU were diagnosed and treated.Thirty-six cases were identified by neonatal screening before 3 mouths old.Mental retardation was found in 57 cases before 6 years old.After treatment with low-phe diet,the follow-up for early-treated patients revealed that their physical and mental development were normal,and height,weight and head circumference were in the normal amplitude,and the results of IQ was(92?12)scores.In later treated patients,abnormal behaviors were significantly improved and their developmental quotients were elevated.Before treatment,Gesell value was(57?20)scores;after 12-18 months treatment Gesell value was(70?20)scores.The difference was significant(t=1.705 P

Overview of the viability assessment of neonatal disease screening in China / 中华医院管理杂志

Objective To provide decision-making information for the spread of techniques that improve the quality of neonates. Methods A systematic study was made of the political, technical, economic and social viability of neonatal disease screening in China by means of economic and policy evaluation, sociological analysis, and statistical analysis. Results Neonatal disease screening was conducted in 29 provinces throughout the country. However, there was a great difference between the provinces in screening coverage. In order to strengthen control, 16 provinces issued methods or regulations concerning neonatal disease screening. Since the Ministry of Health did not issue relevant control methods that would standardize the responsibilities of the organizations undertaking the screening, problems affecting the safety and effectiveness of neonatal disease screening became increasingly prominent. Conclusion It is necessary and viable to conduct neonatal disease screening in China. But macro control of the work by the government needs to be reinforced. The Ministry of Health ought to issue as soon as possible methods for controlling neonatal disease screening and relevant technical criteria. At the same time publicity of the work needs to be strengthened in society so as to give it impetus throughout the country.

Safety and effectiveness assessment of neonatal disease screening / 中华医院管理杂志

Objective To assess the safety and effectiveness of neonatal disease screening so as to provide basis for the establishment of a mechanism for managing neonatal disease screening. Methods Using the ideas of evidence-based medicine, a safety and effectiveness assessment of neonatal disease screening was made by means of literature induction. Results The techniques used in neonatal disease screening were highly safe, but their effectiveness was affected by a variety of links and factors. The differences reported in literature in such aspects as blood-collecting time, testing methods, cut-off values, and indexes for outcome evaluation might mean negative impact on the effectiveness. Conclusion More attention ought to be attached to the understanding and assessment of the safety of screening techniques and more efforts need to be made in conducting systematic studies into the effectiveness of screening techniques.

Mass Screening of Heart Disease with 12-Lead Electrocardiography(ECG) in Elementary School Children

BACKGROUND: It has been reported that heart disease is the most common cause of sudden death in children. There have been relatively few studies concerning heart disease screening of school children in Korea. This study was to evaluate the usefulness of 12-lead ECG for mass screening of heart disease in elementary school children. METHODS: Mass screening of heart disease with 12-lead ECG was done in 17,343 first grade elementary school children(male 8,948, female 8,395) in Kwangju area during 4 months period since September 1992. Among 200 children(male 135, female 65) who showed abnormal electrocardiographic findings, 128 were referred to pediatric cardiologist for detection of heart diseases by thorough examinations including 24-hour ECG, echordiography, cardiac catherization and angiocardiography. RESULTS: 1) The incidence of 12-lead ECG abnormalities was 1.2%. Male outnumbered female in the incidence of abnormalities(0.8% vs 0.4%). 2) Incomplete right bundle branch block was the most frequent ECG abnormality with the incidence of 5.3 among 1,000, followed by right ventricular hypertrophy and premature ventricular contraction, both of them stand the next common abnormalities with the same incidence of 1.6 among 1,000. 3) Out of 39 cases undergoing echocardiography, seven were found to have structual heart abnormalities : 6 atrial defects and one ventricular septal defect. 4) All patients having structual defects but one with atrial septal defect underwent open heart surgery without problems. CONCLUSION: These results suggest that routine 12 lead ECG be one of the useful methods for mass screening of heart disease and imply that establishment of heart disease screening system is necessary for the health promotion of the school chidren with heart disease.