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1.
BMC Ophthalmol ; 22(1): 19, 2022 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-35012498

RESUMO

BACKGROUND: Currently used screening criteria for retinopathy of prematurity (ROP) show high sensitivity for predicting treatment-requiring ROP but low specificity; over 90% of examined infants do not develop ROP that requires treatment (type 1 ROP). A novel weight gain-based prediction model was developed by the G-ROP study group to increase the specificity of the screening criteria and keep the number of ophthalmic examinations as low as possible. This retrospective cohort study aimed to externally validate the G-ROP screening criteria in a Swiss cohort. METHODS: Data from 645 preterm infants in ROP screening at Inselspital Bern between January 2015 and December 2019 were retrospectively retrieved from the screening log and analysed. The G-ROP screening criteria, consisting of 6 trigger parameters, were applied in infants with complete data. To determine the performance of the G-ROP prediction model for treatment-requiring ROP, sensitivity and specificity were calculated. RESULTS: Complete data were available for 322 infants who were included in the analysis. None of the excluded infants had developed type 1 ROP. By applying the 6 criteria in the G-ROP model, 214 infants were flagged to undergo screening: among these, 14 developed type 1 ROP, 9 developed type 2 ROP, and 43 developed milder stages of ROP. The sensitivity for predicting treatment-requiring ROP was 100% (CI, 0.79-1.00), and the specificity was 41% (CI, 0.35 -0.47). Implementing the novel G-ROP screening criteria would reduce the number of infants entering ROP screening by approximately one third. CONCLUSIONS: The overall prevalence of treatment-requiring ROP was low (2.15%). Previously published performance parameters for the G-ROP algorithm were reproducible in this Swiss cohort. Importantly, all treatment-requiring infants were correctly identified. By using these novel criteria, the burden of screening examinations could be significantly reduced.


Assuntos
Retinopatia da Prematuridade , Peso ao Nascer , Estudos de Coortes , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Triagem Neonatal , Estudos Retrospectivos , Fatores de Risco , Suíça
2.
Artigo em Chinês | MEDLINE | ID: mdl-34979619

RESUMO

Objective:To investigate the failure in the hearing screening test among twin neonates in neonatal intensive care unit (NICU) and to further clarify the etiology of neonatal hearing impairment, thus to provide insights into prevention and early intervention. Methods:Automated auditory brainstem response(AABR), distortion product otoacoustic emission(DPOAE) and acoustic immittance were performed on 1452 neonates(including 130 twins) admitted in NICU from January 2015 to June 2018 and the risk factors including premature birth, hyperbilirubinemia, neonatal respiratory distress syndrome, etc. were analyzed retrospectively by univariate chi-square test and multivariate logistic regression analysis. Results:The incidence of C-section, premature birth, hyperbilirubinemia, low birth weight, very low birth weight, in-vitro fertilization, pregnancy-induced hypertension syndrome and formula or mixed feeding among twin neonates were significantly higher than those of singleton neonates (P<0.05). The pass rates of the first-time AABR, DPOAE and acoustic immittance were significantly lower than singleton neonates. The proportion of twin neonates who failed the initial screening but recovered in the following test was as high as 72.86%. AABR pass rate was correlated with congenital heart disease, neonatal respiratory distress syndrome, C-section and (very) low birth weight. The pass rate of DPOAE was correlated with low birth weight and C-section. The pass rate of acoustic immittance was correlated with preterm birth, C-section, low birth weight, gestational diabetes and gestational hypertension. The pass rate of diagnostic ABR was associated with gestational diabetes. And the pass rate of diagnostic DPOAE was associated with maternal age ≥40 years old. Conclusion:The first-time hearing screening pass rate of twin neonates in NICU is lower than that of neonatal singleton. Most twin neonates who fail in the first screening test will recover. Preterm birth, neonatal respiratory distress syndrome, (very) low birth weight, congenital heart disease, gestational diabetes, pregnancy-induced hypertension syndrome, maternal age ≥ 40 years old and C-section are associated with the first-time failure in hearing screening tests among twin neonates, thus entailing close follow-up.


Assuntos
Unidades de Terapia Intensiva Neonatal , Nascimento Prematuro , Adulto , Potenciais Evocados Auditivos do Tronco Encefálico , Feminino , Audição , Testes Auditivos , Humanos , Recém-Nascido , Triagem Neonatal , Emissões Otoacústicas Espontâneas , Gravidez , Estudos Retrospectivos
5.
JAMA Netw Open ; 4(12): e2140998, 2021 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-34964853

RESUMO

Importance: Novel therapies, including cell and gene therapies, can radically improve outcomes among patients with rare disorders, especially if provided early. Newborn screening (NBS) could support early access to novel therapies, but the speed of new therapy development is a disruptive event for which the public health NBS system and state newborn screening programs are unprepared. Objective: To identify and evaluate possible solutions for modernizing NBS. Design, Setting, and Participants: In this survey study, NBS experts representing clinical research, federal or state advisory boards, patient advocacy groups, industry, or state laboratories completed an online survey in which they considered 20 potential solutions for modernizing NBS and rated each. Exposures: Participants considered 20 potential solutions in the 5 following domains: (1) timeliness of disorder review, (2) alternative mechanisms to offer screening for new disorders not currently part of NBS, (3) expanded data collection, (4) support for states, and (5) emerging methods of screening and their consequences. Main Outcomes and Measures: Mean ratings for each solution on efficacy, acceptability, feasibility, and sustainability. Results: The survey was completed by 40 NBS experts (median [range] age, 54 [37-73] years; 22 [55.0%] women). Participants acknowledged that substantial change is needed to prepare the NBS system for rapid expansion of novel therapies; on a scale of 0 (no change) to 10 (extensive change), the median (range) score was 8 (2-10), with 18 respondents (45.0%) believing that the NBS would need many new components or an entirely new system to accommodate the changes. All solutions for modernization were considered potentially efficacious by at least 23 respondents (57.5%). The 2 most strongly endorsed were to establish mechanisms for cross-state data coordination for provisional disorders (38 respondents [95.0%]) and create a network of regional screening laboratories (36 [90.0%]). These were closely followed by aligning programs across federal agencies (35 [87.5%]), expanding funding for research (34 [85.0%]), expanding funding to states (34 [85.0%]), building capacity to identify genetic variants and an associated clinical database (34 [85.0%]), and conducting surveillance to study long-term outcomes (34 [85.0%]). Conclusions and Relevance: In this study, there was consensus among experts that NBS needs to change if the system is to be prepared for a rapid increase in transformative therapies. To our knowledge, this is the first systematic inventory of potential solutions for modernizing NBS and expert perceptions of each. The findings suggest that the modernization of NBS will require the integration of highly rated solutions, strategic planning, and coordination among multiple stakeholders.


Assuntos
Prova Pericial , Triagem Neonatal/normas , Serviços de Saúde da Criança/normas , Feminino , Humanos , Recém-Nascido , Gravidez , Melhoria de Qualidade , Inquéritos e Questionários , Estados Unidos
6.
BMC Ophthalmol ; 21(1): 445, 2021 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-34961497

RESUMO

BACKGROUND: The third epidemic of retinopathy of prematurity (ROP) has majorly involved middle income countries in which tailored screening and local guidelines require development. The data regarding ROP prevalence and cutoff numbers for screening in Egypt are lacking. METHODS: Retrospective analysis of an independent screening effort spanning 2 years (February 2019 to February 2021) and involving 32 neonatal care units within Sharkia governorate, Egypt. Infants of gestational age (GA) ≤ 34 weeks and/or birth weight (BW) ≤ 2000 g were included, as well as those with unstable clinical course. Two eyecare centers located in Sharkia and Cairo governorates served as referral centers for any required interventions. RESULTS: Of the 276 screened infants, 133 (48.2%) had some form of ROP that was bilateral in 127 (95.5%) of them. Aggressive posterior ROP (AP-ROP) was detected in both eyes of 24 infants (8.7%). The median (IQR) GA of infants with ROP was 32 (30-34) weeks, and the median (IQR) BW was 1600 (1350-2000) g. Sixty-three infants (47.4%) required treatment. Of the total 84 eyes that primarily were treated, 73 (86.9%) received intravitreal ranibizumab, 8 (9.5%) underwent laser ablation therapy, and 3 eyes (3.6%) underwent surgery. Recurrence rate was 16.7% (14 eyes). Final outcome was favorable in 83 eyes (98.8%). Applying the American Academy criteria would have led to the missing of 36.8% of infants with ROP and 28.6% of those requiring treatment in our sample. CONCLUSION: The incidence of both ROP and AP-ROP in the Egyptian rural setting appears to be in the high end of global reported rates. Prevention measures should urgently be planned and implemented.


Assuntos
Retinopatia da Prematuridade , Egito/epidemiologia , Idade Gestacional , Humanos , Incidência , Lactente , Recém-Nascido , Triagem Neonatal , Retinopatia da Prematuridade/diagnóstico , Retinopatia da Prematuridade/epidemiologia , Estudos Retrospectivos , Fatores de Risco
7.
Artigo em Inglês | MEDLINE | ID: mdl-34948633

RESUMO

The study aim was to explore the effects of multisensory breastmilk interventions on short-term pain of infants during newborn screening. This is a randomized controlled trial. A total of 120 newborns were recruited and assigned by randomization to one of three treatment conditions: Condition 1 = routine care (gentle touch + verbal comfort); Condition 2 = breastmilk odor + routine care; or Condition 3 = breastmilk odor + taste + routine care. Pain was scored with the Neonatal Infant Pain Scale (NIPS). Data were collected from video recordings at 1 min intervals over the 11 phases of heel sticks: phase 1, 5 min before heel stick without stimuli (baseline); phase 2 to phase 6 (during heel stick); and phase 7 to phase 11 (recovery). Generalized estimating equations compared differences in pain scores for newborns over phases among the three conditions. Compared with the routine care, provision of the odor and taste of breastmilk reduce NIPS scores during heel sticks (B = -4.36, SE = 0.45, p < 0.001 [phase6]), and during recovery (B = -3.29, SE = 0.42, p < 0.001 [phase7]). Our findings provide new data, which supports the use of multisensory interventions that include breastmilk odor and taste in combination with gentle touch and verbal comfort to relieve pain in infants undergoing newborn screening.


Assuntos
Leite Humano , Triagem Neonatal , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Dor/diagnóstico , Dor/prevenção & controle , Manejo da Dor
8.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(12): 1176-1179, 2021 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-34839501

RESUMO

OBJECTIVE: To detect common pathogenic variants associated with congenital deafness among neonates from Huizhou and surrounding areas and discuss its implications. METHODS: Thirteen hot-spot mutations in four most common pathogenic genes were screened among 20 934 neonates from March 2017 to December 2019. RESULTS: In total 760 neonates were found to carry common pathogenic variants (3.63%). Sixty two neonates have carried homozygous/compound heterozygous variants or homoplasmy/heteroplasmy mutations of mtDNA (0.29%). Further analysis of five abnormal cases revealed that 3 of them have carried compound heterozygous mutations of GJB2 gene, and 2 were due to compound heterozygous variants of the CDH23 gene. CONCLUSION: Genetic testing has a great clinical significance for the prevention and reduction of congenital hearing loss, but the scope needs to be updated and redefined by removing mutation sites with a very low rate, adding new significant sites, and improvement of the technical strategies.


Assuntos
Surdez , Perda Auditiva , Conexina 26 , Conexinas/genética , Análise Mutacional de DNA , Surdez/genética , Testes Genéticos , Perda Auditiva/genética , Humanos , Recém-Nascido , Mutação , Triagem Neonatal
9.
Curr Gastroenterol Rep ; 23(12): 28, 2021 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-34817690

RESUMO

PURPOSE OF REVIEW: Biliary atresia is a serious neonatal liver disease due to obstructed bile ducts that has better outcomes when detected and treated in the first 30-45 days of life. This review examines different methods to screen newborns for biliary atresia as well as discusses observations from ongoing screening programs implemented in parts of the United States. RECENT FINDINGS: Screening strategies for biliary atresia include detecting persistent jaundice, examining stool color, testing fractionated bilirubin levels, or measuring bile acid levels from dried blood spot cards. The stool color card program is the most widely used screening strategy worldwide. An alternative approach under investigation in the United States measures fractionated bilirubin levels, which are abnormal in newborns with biliary atresia. Fractionated bilirubin screening programs require laboratories to derive reference ranges, nurseries to implement universal testing, and healthcare systems to develop infrastructure that identifies and acts upon abnormal results. Biliary atresia meets the disease-specific criteria for newborn screening. Current studies focus on developing a strategy which also meets all test-specific criteria. Such a strategy, if implemented uniformly, has the potential to accelerate treatment and reduce biliary atresia's large liver transplant burden.


Assuntos
Atresia Biliar , Transplante de Fígado , Ácidos e Sais Biliares , Atresia Biliar/diagnóstico , Humanos , Recém-Nascido , Triagem Neonatal , Estados Unidos
10.
Otolaryngol Clin North Am ; 54(6): 1081-1092, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34774226

RESUMO

Compelling evidence indicates that some newborns harboring genetic variants associated with hearing loss might not be identified by current physiologic newborn hearing screening (NBHS) rendering current NBHS protocols suboptimal. Incorporating genomic sequencing into NBHS would improve clinical diagnosis and decrease time to early intervention efforts.


Assuntos
Surdez , Perda Auditiva , Testes Genéticos , Perda Auditiva/diagnóstico , Perda Auditiva/genética , Testes Auditivos , Humanos , Recém-Nascido , Triagem Neonatal
11.
Zhongguo Dang Dai Er Ke Za Zhi ; 23(11): 1075-1079, 2021 Nov 15.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-34753537

RESUMO

Congenital hypothyroidism is one of the common diseases causing delayed intelligence development and growth retardation in children. In 2021, the ENDO-European Reference Network updated the practice guidelines for the diagnosis and management of congenital hypothyroidism. The guidelines give a comprehensive and detailed description of the screening, diagnosis, and management of congenital hypothyroidism in neonates. This article gives an interpretation of the guidelines in order to provide a reference for clinicians in China.


Assuntos
Hipotireoidismo Congênito , Criança , China , Hipotireoidismo Congênito/diagnóstico , Consenso , Humanos , Recém-Nascido , Triagem Neonatal , Tireotropina
12.
Immunol Allergy Clin North Am ; 41(4): 543-553, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34602227

RESUMO

The T-cell receptor excision circle (TREC) assay is an effective screening tool for severe combined immunodeficiency (SCID). The TREC assay was designed to detect typical SCID and leaky SCID, but any condition causing low naïve T-cell counts will also be detected. Newborn screening for SCID using the TREC assay has proven itself to be highly sensitive and cost-efficient. This review covers the history of SCID newborn screening, elaborates on the SCID subtypes and TREC assay limitations, and discusses diagnostic and management considerations for infants with a positive screen.


Assuntos
Linfopenia , Imunodeficiência Combinada Severa , Humanos , Recém-Nascido , Triagem Neonatal , Receptores de Antígenos de Linfócitos T/genética , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/terapia
13.
Inquiry ; 58: 469580211049010, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34644190

RESUMO

This retrospective study was undertaken to assess the correlation between click-evoked auditory brainstem responses and behavioral hearing tests. We recruited a total of 16646 infants born in Ditmanson Medical Foundation Chia-Yi Christian Hospital, Taiwan, from 2012 to 2018 for such assessment purpose. Their data including the click-evoked auditory brainstem response (ABR), referral, and diagnostic follow-up were collected. Spearman correlation method was employed to assess the relationship between ABR and pure-tone threshold. The correlation between the click-evoked ABR that met the National Health Administration standards and the click-evoked ABR derived from estimates before and after the 2.5 years of age effectively predicted the toddlers' pure-tone audiometry (PTA) thresholds at 2-4 kHz.


Assuntos
Potenciais Evocados Auditivos do Tronco Encefálico , Audição , Triagem Neonatal , Audiometria de Tons Puros , Limiar Auditivo , Humanos , Recém-Nascido , Estudos Retrospectivos
15.
Medicine (Baltimore) ; 100(37): e27262, 2021 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-34664877

RESUMO

ABSTRACT: To explore the relationship between general movements (GMs) and neonatal behavior neurological assessment (NBNA)/cerebral magnetic resonance imaging (MRI) in preterm infants.Forty preterm infants were examined with GMs assessment before gestational age of 40 weeks; NBNA was performed at the age of 40 weeks; cerebral MRI was performed at the age of 42 weeks.Our experiment showed that preterm infants with poor GMs scores are more likely to have low NBNA scores (P = .001); preterm infants with abnormal cerebral MRI are more likely to have low NBNA scores (P = .002); preterm infants with poor GMs scores are more likely to have abnormal cerebral MRI (P = .012).GM assessment is correlated with NBNA and MRI results in preterm infants for neurological development.


Assuntos
Técnicas de Diagnóstico Neurológico/instrumentação , Recém-Nascido Prematuro/fisiologia , Movimento/fisiologia , Técnicas de Diagnóstico Neurológico/normas , Técnicas de Diagnóstico Neurológico/estatística & dados numéricos , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/estatística & dados numéricos , Masculino , Triagem Neonatal
16.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 50(4): 429-435, 2021 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-34704410

RESUMO

Neonatal genetic disease is currently screened mainly based on metabolite biochemical technology. The false positive rate of biochemical screening technology is relatively high, and there are certain false negatives, and only few types of diseases can be screened. The genetic techniques have been gradually used for neonatal genetic disease screening in recent years. Gene detection technology includes quantitative PCR (qPCR) and high-throughput sequencing. High-throughput sequencing includes gene panel sequencing, whole-exome sequencing and whole-genome sequencing. At present, qPCR and gene panel sequencing are the main technologies to be used for newborn genetic disease screening. Genetic screening diseases range from single disease such as hearing loss, spinal muscular atrophy and severe combined immunodeficiency to multiple diseases. Besides standards and guidelines for the interpretation of sequence variants proposed by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology in 2015, the interpretation of genetic screening results should also consider biochemical results and other results. The development of newborn genetic screening needs to follow ethical principles, including the ethics of newborn genetic screening as a public health project, the privacy ethics of newborns and their family members, and the ethics of bioinformatics. The development of newborn genetic screening will enable more patients with inherited diseases to receive early diagnosis and treatment and improve their prognosis, which is a milestone in the field of neonatal screening.


Assuntos
Testes Genéticos , Genômica , Técnicas Genéticas , Humanos , Recém-Nascido , Triagem Neonatal , Estados Unidos , Sequenciamento Completo do Exoma
17.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 50(4): 487-493, 2021 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-34704417

RESUMO

To evaluate the performance of genetic screening processor (GSP analyzer) in neonatal screening for glucose-6-phosphate dehydrogenase (G6PD)deficiency. The accuracy and precision of GSP analyzer was evaluated with the control materials from National Center for Clinical Laboratories and the low and high quality G6PD control kit (fluorescence analysis). GSP analyzer and semi-automatic fluorescence immunoanalyzer (1420 analyzer) were simultaneously used to detect 2622 neonatal screening samples and 41 confirmed samples to analyze the correlation and consistency of the test results; 78 floating samples and 78 non-floating samples were detected to compare the result. A total of 1 100 384 neonatal screening samples from January 2017 to December 2018 and 855 856 neonatal screening samples from January 2019 to December 2020 were detected with 1420 analyzer and GSP analyzer, respectively. Referring to the percentile method and the expert consensus, the new cut-off value of GSP analyzer for G6PD deficiency in screening was established. The relative bias of GSP analyzer in detecting G6PD was 0.71%-4.23%; the intra assay precision was 4.34%-4.91%, the inter assay precision was 0.85%-2.12%, and the total coefficient of variation was 5.44%-5.72%. There was a significant positive correlation between G6PD activity detected by GSP analyzer and 1420 analyzer (=0.740, <0.01). Forty-one clinical confirmed patients were identified by both 1420 analyzer and GSP analyzer (=0.945). The G6PD activity in floating dry blood spots detected by 1420 analyzer was significantly lower than that in non-floating dry blood spots (<0.05), but there was no significant difference in G6PD activity between floating and non-floating dry blood spots detected by GSP analyzer (>0.05). The sensitivities of GSP analyzer and 1420 analyzer in screening G6PD deficiency were both 100.00%, and the specificities were both more than 99.80%. Compared with 1420 analyzer, the positive predictive value, positive rate and prevalence of G6PD deficiency detected by GSP analyzer were increased, and the false positive rate was decreased (all <0.01). The new cut-off value was 26.1 U/dL for male and 29.1 U/dL for female according to the 99.1% percentile of the population. GSP analyzer has better detection performance with high automation, efficiency and throughput, which can be used in large-scale screening for neonatal G6PD deficiency.


Assuntos
Deficiência de Glucosefosfato Desidrogenase , Feminino , Testes Genéticos , Glucosefosfato Desidrogenase/genética , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Recém-Nascido , Masculino , Triagem Neonatal , Valor Preditivo dos Testes
18.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 50(4): 463-471, 2021 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-34704419

RESUMO

To analyze the screening results for inherited metabolic disorders (IMD) in newborns by tandem mass spectrometry (MS/MS) in Guangzhou.A total of 272 117 newborns in Guangzhou from Jan 2015 to Dec 2020 were screened for IMD by MS/MS in Guangzhou Newborn Screening Center. When the primary screening was positive, the newborns and their mothers were recalled. For those with positive in re-examination, the biochemical and related genetic analysis were required for confirmation. The screening results, clinical characteristics and outcomes of the confirmed cases were retrospectively analyzed and the performance was optimized. Among 272 117 neonates, 1808 (0.66%) cases were positive in primary screening, and 1738 cases (96.13%) were recalled for review. The median clinical diagnosis time was 15 d after birth. A total of 79 cases of IMD were diagnosed, including 23 with aminoacidopathy, 17 with disorder of organic acid metabolism and 39 with fatty acid oxidation disorders, involving 21 diseases. The incidence rate was 1/3444 in newborns, and the positive predictive value of 4.5%. Four false negative cases were found, all of them were citrin deficiency. The common diseases were primary carnitine deficiency (26.6%), methylmalonic aciduria (12.7%) and phenylalanine hydroxylase deficiency (11.4%). The mothers of 32 cases were confirmed, including 30 cases of primary carnitine deficiency, 1 case of isobutyl-coenzyme A dehydrogenase deficiency and 1 case of 3-methylcromaryl coenzyme A carboxylase deficiency. The detection rate was 1/2451 in total population. During the follow-up, most patients remain asymptomatic, except for 5 severe cases who died early (1 case of maple syrup urine disease, 2 cases of isolated methylmalonic acidurmia, and 2 cases of carnitine-acylcarnitine translocase deficiency); and 10 cases of organic acid metabolism disorders developed mild psychomotor developmental retardation. After optimizing the screening indicators, the number of initial screening positives dropped to 903, and the positive predictive value increased to 9.1%, and no confirmed cases were missed. The incidence rate of fatty acid oxidation disorders is high in Guangzhou. A variety of IMD can be effectively screened out by MS/MS, and the screening performance can be improved by optimizing screening indicators.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Doenças Metabólicas , Humanos , Recém-Nascido , Triagem Neonatal , Estudos Retrospectivos , Espectrometria de Massas em Tandem
19.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 50(4): 454-462, 2021 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-34704421

RESUMO

To investigate the incidence rate, clinical and gene mutation characteristics of multiple acyl-CoA dehydrogenase deficiency (MADD) in newborns in Zhejiang province. A total of 3 896 789 newborns were screened for MADD using tandem mass spectrometry in Zhejiang Neonatal Screening Center during January 2009 and December 2020. Patients of MADD were confirmed by urine organic acid and electron transferring flavoprotein (or electron transferring flavoprotein dehydrogenase () gene detection. MADD patients were given diet and life management, supplemented with L-carnitine, riboflavin and coenzyme Q 10 treatment, and their growth and intellectual development were evaluated during the followed up.Thirteen patients with MADD were diagnosed, with an incidence of 1/299 753. One patient was type Ⅱ, and the rest were type Ⅲ. Patients were followed up for 1 case died, 4 cases had acute metabolic disorders with hypoglycemia as the main manifestation due to infection, 1 case had hypotonia, and the rest 7 cases developed well. Patients had raised levels of C4-C18:1 acylcarnitines in the initial screening. Thirteen children were genetically tested, 1 case with compound heterozygous mutation in the gene, 1 case with homozygous mutation in the gene, 1 case with compound heterozygous mutation in the gene, 8 cases with compound heterozygous mutation and 1 case with homozygous mutation in the gene, 1 case that only 1 locus of gene was detected. The c.250G>A was the hotspot mutation in this study.The clinical manifestations of MADD are highly heterogeneous. The neonatal-onset form is serious, and late onset form usually has no obvious clinical symptoms. C4-C18:1 acylcarnitines usually increased in the initial screening, and the hotspot gene mutation is c.250G>A.


Assuntos
Deficiência Múltipla de Acil Coenzima A Desidrogenase , Criança , Seguimentos , Humanos , Recém-Nascido , Deficiência Múltipla de Acil Coenzima A Desidrogenase/diagnóstico , Deficiência Múltipla de Acil Coenzima A Desidrogenase/genética , Mutação , Triagem Neonatal , Riboflavina
20.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 50(4): 514-523, 2021 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-34704422

RESUMO

Hereditary tyrosinemia type Ⅰ (HT-1) is a severe autosomal recessive inherited metabolic disease. Due to the deficiency of fumarylacetoacetase hydrolase (FAH), the toxic metabolites are accumulated in the body, resulting in severe liver dysfunction, renal tubular dysfunctions, neurological crises, and the increased risk of hepatocellular carcinoma. Clinical symptoms typically begin at after the birth; the prognosis of patients is poor if they are not treated timely. Succinylacetone is a specific and sensitive marker for HT-1, and the screening in newborns can make early diagnosis of HT-1 at the asymptomatic stage. The diagnosis of HT-1 can be confirmed based on the characteristic biochemical findings and molecular testing of mutations in both alleles of gene. Combined treatment with nitisinone and a low tyrosine diet may significantly improve outcomes for patients. Liver transplantation is an effective treatment in cases where nitisinone is not available. Some novel HT-1 treatments are in clinical trials, including enzyme replacement therapy, hepatocyte transplantation and gene-targeted therapy.


Assuntos
Transplante de Fígado , Tirosinemias , Humanos , Recém-Nascido , Fígado , Mutação , Triagem Neonatal , Tirosinemias/diagnóstico , Tirosinemias/terapia
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