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1.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 54(12): 881-887, 2019 Dec 07.
Artigo em Chinês | MEDLINE | ID: mdl-31887812

RESUMO

Objective: To screen, diagnose and follow up the abnormal mutation in the gene screening of neonatal deafness. Methods: A total of 24161 newborns born in Zhuhai Maternal and Child Health Hospital from February 1, 2015 to January 31, 2008 were screened for hearing and deafness genes, and audiological screening, diagnosis and 1-3 years follow-up were carried out for the newborns with positive gene screening. Results: There were 991 cases of deafness gene mutation (533 males and 458 females), and the rate of abnormal mutation was 4.10%(991/24 161). Among them, 921 cases were single heterozygous mutation, 130 cases were failed in primary hearing screening, 11 cases were failed in secondary hearing screening, 8 cases were abnormal in audiological diagnosis finally. In these 8 cases, 3 were diagnosed as otitis media and passed audiological follow-up after cure, 2 cases of single ear sensorineural injury caused by high-risk factors, passed after close audiological follow-up, and the other 3 cases were closely audiological follow-up while none of them were successfully sequenced. All of them were moderate to severe sensorineural deafness, 1 case was heterozygous mutation at 3 loci of GJB2(c.235delC,c.408C>A,c.134G>A), 1 case was heterozygous mutation at 2 loci of GJB2(c.235delC, c.109G>A), and 1 case was single heterozygous mutation of GJB2(c.235delC). The remaining 913 cases who passed the primary screening, secondary screening or hearing diagnosis were followed up for 1 to 3 years. Three cases of multiple heterozygous mutation were found in gene screening(2 cases were SLC26A4 2168A>G, IVS7-2A>G, 1 case was GJB2 c.176_191del 16bp, c.299_300del AT), all of them passed both primary and secondary hearing screening. In these 3 cases, the final audiological diagnosis was moderate sensorineural deafness in both ears, with no improvement in the follow-up of 1-3 years. There were 9 monogenic homozygous mutations, 7 failed in primary hearing screening, 3 failed in secondary hearing screening and also failed in audiological diagnosis and 1-3 years' audiological follow-up, all of whom were GJB2 c.235 del C homozygous mutations, and one of whom had a definite family history of deafness. The remaining 6 cases of homozygous mutation diagnosed by primary screening, secondary screening or hearing diagnosis were GJB2 c109G>A homozygous mutation, and passed the 1-3 years' hearing follow-up. 58 children with mtDNA mutations, including 2 with 12S rRNA 1494C>T homozygous mutation, 47 with 1555A>G homozygous mutation, and 9 with 1555A>G heterozygous mutation, all passed the primary or secondary hearing screening, and were instructed to ban ototoxic drugs for the whole life, and passed the 1-3 years' hearing follow-up. Conclusions: The audiological follow-up of children with monogenic heterozygous mutations in deafness gene screening is generally normal. In case of abnormality, the influencing factors such as otitis media should be excluded at first. In case of unexplained moderate to severe sensorineural deafness, the whole-gene sequencing should be performed to find possible pathogenic factors. The children with homozygous mutation or compound heterozygous mutation in gene screening, most of whom show different degrees of hearing loss, should be followed up for a long time, and provide parents with scientific and reasonable genetic counseling according to the mutation genes and loci,. The hearing of drug-induced deafness gene carriers is normal after birth. Parents should be advised to strengthen prevention and follow-up is generally enough.


Assuntos
Análise Mutacional de DNA , Surdez , Perda Auditiva , Pré-Escolar , China , Conexina 26 , Conexinas , Feminino , Seguimentos , Testes Genéticos , Perda Auditiva/diagnóstico , Perda Auditiva/genética , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Triagem Neonatal
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1067-1072, 2019 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-31703127

RESUMO

OBJECTIVE: To determine the incidence and mutational types of fatty acid oxidation disorders (FAOD) in central-northern region of Guangxi. METHODS: A total of 62 953 neonates were screened for FAOD during December 2012 and December 2017. Acyl-carnitine profiling of neonatal blood sample was performed by tandem mass spectrometry using dry blood spots on a filter paper. The diagnosis of FAOD was confirmed by organic acid profiling of urea and genetic testing. RESULTS: Eighteen cases of FAOD were diagnosed among the 62 953 neonates. Among these, primary carnitine deficiency (PCD) was the most common type (n=13), which was followed by short-chain acyl-CoA dehydrogenase deficiency (SCADD) (n=2), medium-chain acyl-CoA dehydrogenase deficiency (MCADD) (n=1), multiple acyl-CoA dehydrogenase deficiency (MADD) (n=1), and carnitine palmitoyltransferase II deficiency (CPT II D) (n=1). Genetic testing has revealed two previously unreported variants, i.e., c.337G to A (p.Gly113Arg) of ACADS gene and c.737G TO T (p.Gly246Val) of ETFA gene. CONCLUSION: PCD is the most common FAOD in central-northern Guangxi. Tandem mass spectrometry combined with genetic testing may facilitate early diagnosis of FAOD.


Assuntos
Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/genética , Acil-CoA Desidrogenase/deficiência , Acil-CoA Desidrogenase/genética , Carnitina/sangue , Carnitina O-Palmitoiltransferase/deficiência , China , Flavoproteínas Transferidoras de Elétrons/genética , Humanos , Recém-Nascido , Erros Inatos do Metabolismo/diagnóstico , Deficiência Múltipla de Acil Coenzima A Desidrogenase/diagnóstico , Triagem Neonatal , Espectrometria de Massas em Tandem
4.
Orv Hetil ; 160(47): 1850-1855, 2019 Nov.
Artigo em Húngaro | MEDLINE | ID: mdl-31736348

RESUMO

Sufficient hearing is the cornerstone of the development of children's complex sensory perception, sound recognition, speech development and optimal communication skills. Hearing screening of newborns is necessary to detect congenital hearing disorders. Compulsory objective hearing screening in Hungary is a significant improvement in early diagnosis. The Audiological Department of Otorhinolaryngology, Head and Neck Surgery Clinic at Semmelweis University serves as a verification center for children identified via the compulsory objective newborn hearing screening and necessitates more detailed assessment. The goal of this study was to summarize the verification results of the year 2018. Case history, ENT examination, electric response measurement, impedance tests, otoacoustic emission measurement, surdopedagogical examination, and genetic examination are the basics of the diagnosis and the therapy as well. Altogether 261 newborns were examined in 2018 and 164 were subjected to audiological tests during the analyzed seven-month period. Normal hearing was detected in both ears in 77% of the cases, while hearing loss has been verified in 37 patients (23% of cases). Permanent hearing loss has been diagnosed in 19 cases, 4 unilateral and 15 bilateral. Hearing loss of sensorineural origin was confirmed in 17, conductive in 2 children. Temporary hearing loss caused by otitis media with effusion was found in further 18 children which healed spontaneously in most cases. Organized neonatal objective hearing examination has been established in Hungary in 2015. As a result, we can diagnose and provide care for children with hearing loss at the earliest stage. The National Newborn Hearing Screening Registry ensures a well-coordinated and smooth process. Orv Hetil. 2019; 160(47): 1850-1855.


Assuntos
Perda Auditiva/etiologia , Testes Auditivos/métodos , Triagem Neonatal/métodos , Criança , Feminino , Metas , Perda Auditiva/congênito , Perda Auditiva/diagnóstico , Perda Auditiva/epidemiologia , Humanos , Hungria/epidemiologia , Recém-Nascido , Masculino
5.
Medicine (Baltimore) ; 98(39): e17303, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31574857

RESUMO

Treatment with nitisinone (NTBC) has brought about a drastic improvement in the treatment and prognosis of hereditary tyrosinemia type I (HT1). We conducted a retrospective observational multicentric study in Spanish HT1 patients treated with NTBC to assess clinical and biochemical long-term evolution.We evaluated 52 patients, 7 adults and 45 children, treated with NTBC considering: age at diagnosis, diagnosis by clinical symptoms, or by newborn screening (NBS); phenotype (acute/subacute/chronic), mutational analysis; symptoms at diagnosis and clinical course; biochemical markers; doses of NTBC; treatment adherence; anthropometric evolution; and neurocognitive outcome.The average follow-up period was 6.1 ±â€Š4.9 and 10.6 ±â€Š5.4 years in patients with early and late diagnosis respectively. All patients received NTBC from diagnosis with an average dose of 0.82 mg/kg/d. All NBS-patients (n = 8) were asymptomatic at diagnosis except 1 case with acute liver failure, and all remain free of liver and renal disease in follow-up. Liver and renal affectation was markedly more frequent at diagnosis in patients with late diagnosis (P < .001 and .03, respectively), with ulterior positive hepatic and renal course in 86.4% and 93.2% of no-NBS patients, although 1 patient with good metabolic control developed hepatocarcinoma.Despite a satisfactory global nutritional evolution, 46.1% of patients showed overweight/obesity. Interestingly lower body mass index was observed in patients with good dietary adherence (20.40 ±â€Š4.43 vs 24.30 ±â€Š6.10; P = .08) and those with good pharmacological adherence (21.19 ±â€Š4.68 vs 28.58 ±â€Š213.79).intellectual quotient was ≥85 in all NBS- and 68.75% of late diagnosis cases evaluated, 15% of which need pedagogical support, and 6.8% (3/44) showed school failure.Among the 12 variants identified in fumarylacetoacetate hydrolase gene, 1 of them novel (H63D), the most prevalent in Spanish population is c.554-1 G>T.After NTBC treatment a reduction in tyrosine and alpha-fetoprotein levels was observed in all the study groups, significant for alpha-fetoprotein in no NBS-group (P = .03), especially in subacute/chronic forms (P = .018).This series confirms that NTBC treatment had clearly improved the prognosis and quality of life of HT1 patients, but it also shows frequent cognitive dysfunctions and learning difficulties in medium-term follow-up, and, in a novel way, a high percentage of overweight/obesity.


Assuntos
Cicloexanonas/uso terapêutico , Diagnóstico Tardio , Nitrobenzoatos/uso terapêutico , Obesidade , Qualidade de Vida , Tirosinemias , Adulto , Criança , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/etiologia , Diagnóstico Tardio/efeitos adversos , Diagnóstico Tardio/prevenção & controle , Inibidores Enzimáticos/uso terapêutico , Feminino , Seguimentos , Humanos , Recém-Nascido , Nefropatias/diagnóstico , Nefropatias/etiologia , Masculino , Determinação de Necessidades de Cuidados de Saúde , Triagem Neonatal/métodos , Obesidade/diagnóstico , Obesidade/etiologia , Prognóstico , Estudos Retrospectivos , Espanha , Tempo para o Tratamento , Tirosinemias/complicações , Tirosinemias/diagnóstico , Tirosinemias/tratamento farmacológico , Tirosinemias/psicologia
6.
Sante Publique ; Vol. 31(3): 427-432, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31640330

RESUMO

OBJECTIVE: To estimate the screening coverage of neonatal bilateral permanent deafness (NBPD) among neonates in the region of Paris (Île-de-France), between 2012 and 2017, using data from the Program for Medicalization of Information System (PMSI). METHOD: The study population covers hospital stays of newborns (0 to 28 days of life) in the region of Paris between 2012 and 2017. The data were extracted from PMSI database using DIAMANT system. The annual screening coverage rate is estimated by the ratio between the number of newborn stays with the code Z13.51 and one of the two specific medical procedures for NBPD screening and the number of live births recorded in health facilities. RESULTS: In 2017, 133 152 newborn stays with a Z13.51 code were counted in the Ile-de-France region, out of 178 011 live births; less than 75% of newborns. Hospital stays including a medical procedure CDQP009 or CDQP017 represent a proportion of 16.3% in 2017. The annual estimated rate of screening coverage of NBPD using the PMSI (89,8%, taking into account the different coding practices) is lower than the one calculated from data of the FPDPHE (95,5%) and national/regional target rate set by the National screening Program. CONCLUSION: Our methodology and the observed results revealed that an annual NBPD screening coverage rate could be estimated, if the National plan and coding practices requirements follow the guidelines. Harmonization of coding practices and data quality assurance are essential to be able to build an indicator of NBPD screening coverage based on routinely collected data (PMSI, SNDS), which can contribute to the monitoring of the implementation of the screening program for the neonates.


Assuntos
Surdez/diagnóstico , Triagem Neonatal , Bases de Dados Factuais , Humanos , Recém-Nascido , Sistemas de Informação , Medicalização , Paris
7.
Zhonghua Er Ke Za Zhi ; 57(10): 797-801, 2019 Oct 02.
Artigo em Chinês | MEDLINE | ID: mdl-31594068

RESUMO

Objective: To investigate the profiles of blood amino acid and acylcarnitine in early neonates with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and the sensitivity of newborn screening, and to explore potential biochemical metabolic markers for newborn screening program. Methods: Amino acid and acylcarnitine profiles in dried blood spots of newborn screening program were analyzed by tandem mass spectrometry (MS/MS). A total of 158 651 neonates born in Guangzhou from January 1, 2015 to June 30, 2019 were enrolled in this newborn screening program, and additionally 55 patients with NICCD confirmed by SLC25A13 gene analysis in Guangzhou Women and Children Medical Center were included in this study. NICCD screen-positive was defined as the cutoff value of citrulline (Cit) ≥ 30 µmol/L. The values of blood sampling time of the true positive group and those of the false negative group were compared by t-test. The levels of amino acid and acylcarnitine among different groups, including true positive group (Cit≥30 µmol/L), false negative group (Cit 21-<30 µmol/L and Cit<21 µmol/L) and the normal control group, were analyzed by F test, respectively. Results: Among 158 651 neonates, 39 neonates were positive for NICCD screening. Three of them were confirmed NICCD and 4 cases were found to be false negatives. The positive predictive value was 7.7% and the sensitivity was about 43.0%. Among 55 patients with NICCD, 18 cases (18/55, 32.7%) were true positives and 37 cases (37/55, 67.3%) were false negatives based on the cutoff value of citrulline in the dried blood spots for newborn screening. The blood sampling time was significantly different between true positive group and false negative group ((4.28±1.6) vs. (2.98±0.74) d, t=4.06, P<0.01). The increased levels of tyrosine((176.0±98.4) µmol/L), methionine ((37.0±26.9) µmol/L) and phenylalanine ((133.0±80.9)µmol/L) in Cit≥30 µmol/L group (n=18) were significantly different as compared with those in the other three groups, respectively (F=117.0, 58.5, 135.0, P<0.01). The levels of arginine ( (10.0±9.2) , (11.0±9.3) , (9.0±17.8) µmol/L), valine ( (119.0±29.8) , (107.6±14.1) , (102±68) µmol/L) and leucine ( (167.0±37.1) , (161.0±37.7) , (163.5±180.6) µmol/L) were not statistically significant among groups of Cit≥30 µmol/L(n=18), Cit21-<30 µmol/L(n=7) and Cit<21µmol/L(n=30,P>0.05), but they were significantly higher than those of the normal control group ((4±3), (78±21), (114.0±31.5) µmol/L, n=1 000), respectively(F=30.1, 23.0, 29.8, P<0.01). Alanine (Ala) ( (150±50) , (156.0±30.2), (168±105), (152±52) µmol/L) levels showed no significant difference (F=0.86, P>0.05) but the ratios of Ala/Cit (1.52±1.44, 6.82±1.56, 12.06±7.71, 19.42±6.27) decreased significantly among the four groups (F=69.0, P<0.05). The acylcarnitine levels showed no statistically significant results among the different groups (P>0.05). With Cit≥30 µmol/L and Ala/Cit<7.5 as cutoff values, the number of screen-positive cases reduced from 39 to 22 cases with no additional false negative case. With Cit≥21 µmol/L and Ala/Cit<7.5 as cutoff values the number of screen-positive cases increased to 117 cases with 1 additional true positive. Conclusions: The profiles of blood amino acid in early neonates with NICCD present the increased levels of multiple amino acids including citrulline, tyrosine, methionine and phenylalanine, and decreased ratio of Ala/Cit. Taking citrulline and ratio of Ala/Cit as screening markers can improve the positive predictive value appropriately. The limited sensitivity of NICCD newborn screening may be related to early blood sampling time.


Assuntos
Aminoácidos/sangue , Carnitina/análogos & derivados , Citrulinemia/diagnóstico , Triagem Neonatal/métodos , Carnitina/sangue , Criança , Citrulinemia/sangue , Feminino , Humanos , Recém-Nascido , Proteínas de Transporte da Membrana Mitocondrial , Espectrometria de Massas em Tandem
8.
Rev Prat ; 69(4): 411-416, 2019 Apr.
Artigo em Francês | MEDLINE | ID: mdl-31626498

RESUMO

Newborn screening of sickle cell disease -NBS- is systematic in the French West Indies and targeted in Metropolitan France to babies from "at risk" countries. The percentages of targeted babies range from 9.1% in Brittany to 73.6% in the Parisian area. NBS is performed on a drop of blood collected by heel stick and put on a blotting paper. Electrophoretic and chromatographic techniques are used to separate and quantify hemoglobin fractions. When a test finds abnormal results, confirmatory tests using a different technique are needed. In case of heterozygote baby, results are disclosed by mail or during a consultation according to local protocols. For children with major sickle cell syndromes -SCD-, results are disclosed by a specialist of SCD. All infants have to be included in a network of physicians including proximity health care providers and expert centers. Parents must be taught how to be the first line actors and must learn the signs prompting for going to Emergency department. In 2016, 431 children with SCD have been diagnosed in France, which represents 1/771 screened babies.


Assuntos
Anemia Falciforme , Triagem Neonatal , Anemia Falciforme/diagnóstico , Anemia Falciforme/terapia , Criança , França , Humanos , Lactente , Recém-Nascido
9.
ABCS health sci ; 44(2): 103-107, 11 out 2019. tab
Artigo em Português | LILACS | ID: biblio-1022346

RESUMO

INTRODUÇÃO: Diversos são os indicadores de risco para deficiência auditiva. O índice de Apgar, quando menor que quatro no primeiro minuto e/ou menor que seis no quinto minuto de vida, é considerado um indicador de risco para surdez. Tais valores estão associados à ocorrência de asfixia, que é uma das causas mais comuns de lesão e morte celular e, desta forma, algum dano ao sistema auditivo pode ocorrer. OBJETIVO: Verificar a influência do indicador de risco para deficiência auditiva, Apgar baixo, na primeira avaliação auditiva do neonato. MÉTODOS: Estudo clínico transversal, realizado em hospital público no período de janeiro de 2012 a dezembro de 2016. Os neonatos realizaram a avaliação audiológica por meio do exame de emissões otoacústicas evocadas por estímulo transiente (EOE-t). A relação entre Apgar baixo e "falha" nas EOE-t foi analisada por regressão logística simples. RESULTADOS: Foram avaliados 6.301 neonatos, desses 15,82% (n=996) tinham indicadores de risco para deficiência auditiva e 6,57% (n=415) obtiveram Apgar baixo. Apresentaram falha no exame de EOE-t, uni ou bilateral, 6,5% (n=415) dos neonatos triados. Outros indicadores de risco aumentaram as chances de "falha" na EOE-t, porém o Apgar baixo, isoladamente, aumentou as chances de "falha" em neonatos com peso ao nascimento maior que 1.500 g (OR: 1,58; p=0,02) e sem hemorragia peri-intraventricular (OR: 1,56; p=0,01). CONCLUSÃO: O índice de Apgar baixo foi o principal causador de "falha" na primeira avaliação auditiva dentre os neonatos com peso maior de 1.500 g e sem hemorragia peri-intraventricular.


INTRODUCTION: There are several risk indicators for hearing loss. The Apgar score, when less than four in the first minute and/or less than six in the fifth minute of life, is considered an indicator of risk for hearing loss. Such values are associated with the occurrence of asphyxia, which is one of the most common causes of cell death and injury and, therefore, some damage to the auditory system may occur. OBJECTIVE: To check the influence of risk indicator for hearing loss, low Apgar, in the first neonatal hearing evaluation. METHODOS: Cross-sectional study conducted in a public hospital from January 2012 to December 2016. The neonates underwent hearing evaluation by examining transient-evoked otoacoustic emissions (TEOAE). The relation between low Apgar and "refer" in the TEOAE was analyzed by simple logistic regression. RESULTS: A total of 6,301 newborns were evaluated, of which 15.82% (n=996) had risk indicators for hearing loss and 6.57% (n=415) had with low Apgar. 6.5% (n=415) of the neonates screened showed failure of the EOE-t test, uni or bilateral. Others risk indicators increased the chances of "refer"; however, the presence of low Apgar alone increased the chances of "refer" in the TEOAE in newborns with birth weight greater than 1,500 g (OR: 1.58; p=0.02) and without peri-intraventricular hemorrhage (OR: 1.56; p=0.01). CONCLUSION: The low Apgar score was the mainly cause of "refer" on the first hearing evaluation among neonates with with birth weight greater than 1,500 g and without peri-intraventricular hemorrhage.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Índice de Apgar , Triagem Neonatal , Indicador de Risco , Audição
10.
Rev Med Liege ; 74(9): 461-464, 2019 Sep.
Artigo em Francês | MEDLINE | ID: mdl-31486315

RESUMO

The treatment of spinal muscular atrophy (SMA) has considerably changed over the last 3 years. Several approaches that aim to increase the deficient SMN protein have demonstrated an efficacy that is inversely correlated with disease duration. In this context, newborn screening (NBS) is increasingly considered as the next step in several countries or regions. In 2018, we initiated a pilot study for NBS of SMA in French- and German-speaking Belgium. We aim to evaluate the feasibility, the efficacy, and the cost-effectiveness of such a program. Initially covering the region of Liege, the program was recently extended to the whole Southern Belgium and currently covers about 55.000 newborns per year. On June 1st 2019, 35.000 newborns had been screened and 5 affected babies were identified and referred to neuromuscular centers for early treatment. A full evaluation of the program will take place after three years to consider the inclusion of SMA screening in the publically-funded NBS program in Southern Belgium.


Assuntos
Atrofia Muscular Espinal , Bélgica/epidemiologia , Humanos , Lactente , Recém-Nascido , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/epidemiologia , Triagem Neonatal , Projetos Piloto
11.
Stud Health Technol Inform ; 264: 611-615, 2019 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-31437996

RESUMO

Neonatal screening and ongoing follow-up of children with sickle cell disease are essential to reduce the mortality caused by this disease. To ensure care continuity, it is essential to include in the patient's record the history and details of biological tests. Thus, it is necessary to provide a Laboratory Information System for electronic management of biological test prescription and results, and the laboratory system must integrate well with Health Information Systems. In this paper, we propose a Laboratory Information System for the management of biological tests for the neonatal screening and healthcare of sickle cell disease in Senegal.


Assuntos
Anemia Falciforme , Sistemas de Informação em Laboratório Clínico , Testes Hematológicos , Humanos , Recém-Nascido , Triagem Neonatal , Senegal
12.
BMC Infect Dis ; 19(1): 652, 2019 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-31331274

RESUMO

BACKGROUND: Congenital Cytomegalovirus (cCMV) is the most common cause of non-genetic hearing loss in childhood. A newborn hearing screening program (NHSP) is currently running in Italy, but no universal cCMV nor statewide hearing-targeted CMV screening programs have been implemented yet. This observational monocentric study was aimed at estimating the rate of cCMV infections identified by CMV-DNA analysis on Dried Blood Spots (DBS) samples in deaf children identified via NHSP in Northern Italy in the period spanning from 2014 to 2018. METHODS: Children with a confirmed diagnosis of deafness and investigated for CMV-DNA by nucleic acid extraction and in-house polymerase-chain reaction (PCR) on stored newborns screening cards (DBS-test) were included in this study. Deafness was defined by a hearing threshold ≥20 decibel (dB HL) by Auditory Brainstem Responses (ABR); all investigated DBS samples were collected within 3 days of life. RESULTS: Overall, 82 children were included (median age: 3.4 months; lower-upper quartiles: 2-5.3 months; males: 60.9%). Most of them (70.7%) presented bilateral hearing loss with a symmetrical pattern in 79.3% of the cases. ABR thresholds were ≥ 70 dB HL (severe/profound deafness) in 46.5% of children. Among all tested children, 6.1% resulted positive for cCMV. The rate of severe/profound deafness was statistically higher in children with cCMV infection. CONCLUSIONS: The addition of DBS-test to the NHSP allowed the identification, in their first months of life, of a cCMV infection in 6.1% of children who had failed NHS. The introduction of a targeted CMV screening strategy could help clinicians in the differential diagnosis and in the babies' management. DBS samples can be considered a "universal newborns biobank": their storage site and duration should be the subject of political decision-making.


Assuntos
Infecções por Citomegalovirus/diagnóstico , Teste em Amostras de Sangue Seco/métodos , Perda Auditiva/diagnóstico , Triagem Neonatal/métodos , Citomegalovirus/genética , Infecções por Citomegalovirus/sangue , Feminino , Perda Auditiva/virologia , Testes Auditivos , Humanos , Lactente , Recém-Nascido , Itália , Masculino , Reação em Cadeia da Polimerase
15.
Recurso na Internet em Português | LIS - Localizador de Informação em Saúde, LIS-bvsms | ID: lis-LISBR1.1-46621

RESUMO

O diagnóstico precoce, o tratamento adequado e o acompanhamento médico de algumas doenças podem evitar a morte, deficiências e proporcionar melhor qualidade de vida aos recém-nascidos. Saiba mais sobre o fortalecimento do cuidado aos recém-nascidos e as ações desenvolvidas aqui.


Assuntos
Programas Nacionais de Saúde , Triagem Neonatal , Recém-Nascido , Indicadores de Morbimortalidade , Sistema Único de Saúde , Doenças do Recém-Nascido
16.
Cent Eur J Public Health ; 27(2): 153-159, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31241292

RESUMO

OBJECTIVES: Presymptomatic detection of patients with rare diseases (RD), defined by a population frequency less than 1 : 2,000, is the task of newborn screening (NBS). In the Czech Republic (CZ), currently eighteen RD are screened: phenylketonuria/hyperphenylalaninemia (PKU/HPA), congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), very long chain acyl-CoA dehydrogenase deficiency (VLCADD), carnitine palmitoyl transferase I and II deficiency (CPTID, CPTIID), carnitine-acylcarnitine translocase deficiency (CACTD), maple syrup urine disease (MSUD), glutaric aciduria type I (GA I), isovaleryl-CoA dehydrogenase deficiency (IVA), argininemia (ARG), citrullinemia (CIT), biotinidase deficiency (BTD), cystathionine beta-synthase-deficient homocystinuria (CBSD HCU), and methylenetetrahydrofolate reductase deficiency homocystinuria (MTHFRD HCU). The aim was to analyze the prevalence of RD screened by NBS in CZ. METHODS: We examined the NBS programme in CZ from 1 January 2010 to 31 December 2017, which covered 888,891 neonates. Dried blood spots were primarily analyzed using fluorescence immuno-assay, tandem mass spectrometry and fluorimetry. RESULTS: The overall prevalence of RD among the neonate cohort was 1 : 1,043. Individually, 1 : 2,877 for CH, 1 : 5,521 for PKU/HPA, 1 : 6,536 for CF (1 : 5,887 including false negative patients), 1 : 12,520 for CAH, 1 : 22,222 for MCADD, 1 : 80,808 for LCHADD, 1 : 177,778 for GA I, 1 : 177,778 for IVA, 1 : 222,223 for VLCADD, 1 : 296,297 for MSUD, 1 : 8,638 for BTD, and 1 : 181,396 for CBSD HCU. CONCLUSIONS: The observed prevalence of RD, based on NBS, corresponds to that expected, more precisely it was higher for BTD and lower for MSUD, IVA, CBSD HCU, MCADD and VLCADD. Early detection of rare diseases by means of NBS is an effective secondary prevention tool.


Assuntos
Triagem Neonatal/métodos , Doenças Raras/epidemiologia , Biomarcadores/sangue , República Tcheca/epidemiologia , Fluorometria , Humanos , Recém-Nascido , Doenças Raras/sangue , Espectrometria de Massas em Tandem
17.
Rev Inst Med Trop Sao Paulo ; 61: e30, 2019 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-31241659

RESUMO

Toxoplasma gondii can cross the placental barrier, causing fetal infection with potentially severe sequelae. The aim of this study was to evaluate whether the serological screening for toxoplasmosis should be included in the basic neonatal heel prick test in order to establish criteria for the confirmation and/or exclusion of the diagnosis of congenital infection in newborns treated at three public health units in the metropolitan region of Goiania, Goias State, Brazil. Blood samples were collected on filter paper from newborns and later, peripheral blood samples from the mothers and their respective children were obtained to confirm or exclude the diagnosis of suspected congenital infection, by means of an enzyme-linked immunosorbent assay (IgM and IgG) and a polymerase chain reaction assay. From a total of 1,159 blood samples collected on filter paper, 43.92% were reactive to IgG and 0.17% to anti-T. gondii IgM and IgG. One hundred and twenty-seven paired samples (mother and child) were collected following consensual protocols for peripheral blood collection. Results obtained from the filter paper and peripheral blood of the newborns were 90.55% concordant. A comparison of the mother and child blood test results showed agreement regarding the detection of IgG in 90.48% of the samples. The parasite DNA was detected in the peripheral blood of one child. In view of the results obtained in this study, the inclusion of the serological screening for toxoplasmosis in the newborn heel prick test proved to be effective for the early detection of congenital T. gondii infection.


Assuntos
Triagem Neonatal/métodos , Complicações Infecciosas na Gravidez/sangue , Complicações Infecciosas na Gravidez/diagnóstico , Toxoplasma/microbiologia , Toxoplasmose Congênita/sangue , Toxoplasmose Congênita/diagnóstico , Anticorpos Antiprotozoários/sangue , Brasil , Feminino , Doenças Fetais , Humanos , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Recém-Nascido , Transmissão Vertical de Doença Infecciosa , Reação em Cadeia da Polimerase , Gravidez , Complicações Infecciosas na Gravidez/genética , Estudos Prospectivos , Toxoplasma/genética , Toxoplasmose Congênita/genética
19.
Zhonghua Er Ke Za Zhi ; 57(6): 494-496, 2019 06 02.
Artigo em Chinês | MEDLINE | ID: mdl-31216812
20.
BMC Public Health ; 19(1): 731, 2019 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-31185962

RESUMO

BACKGROUND: With Universal Health Coverage and Integrated People-centred Health Care, streamlined health-systems and respectful care are necessary. South Africa has made great strides in prevention of mother-to-child transmission (PMTCT) but with the great burden of HIV, a minimum of birth and 10-week HIV-PCR testing are required for the estimated 360,000 HIV-exposed infants born annually which presents many challenges including delayed results and loss to follow-up. Point-of-care (POC) HIV testing of infants addresses these challenges well and facilitates initiation of HIV-infected infants rapidly after diagnosis for best clinical outcomes. METHODS: Objectives were to determine accuracy, feasibility and acceptability of POC testing compared to standard-of-care (SOC) central-laboratory testing. HIV-exposed infants for birth PCR testing in hospital (n = 323) and follow-up at a primary health care clinic (n = 117) in Durban, South Africa were included. A baseline situational-analysis reviewed registers and phoned mothers of HIV-exposed infants prior to the intervention. An effectiveness-implementation study of the Alere™q HIV-1/2 Detect POC test (heel-prick specimen processed in 50 min) was compared with SOC with questionnaires to mothers and staff. Stata 14 was used for analysis. RESULTS: At baseline 2% of birth HIV tests were missed; only 40% of mothers could be contacted; 17% did not receive birth test result; 19% did not have a 10-week test; 39% had not received the 10-week results. There were 5(1.5%) HIV-infected and 318(98.5%) HIV-negative infants detected in hospital with all clinic babies negative. All positive infants commenced ART before discharge. Ultimately POC and SOC had perfect concordance but for 10 SOC tests researchers actively tracked-down results or repeated tests. Turn around times for SOC tests were on average 8-days (IQR 6-10 days) and for POC testing was 0-days. The POC error-rate was 9,6% with all giving a result when repeated. The majority of mothers (92%) preferred POC testing with 7% having no preference. No staff preferred SOC testing with 79% preferring POC and 21% having no preference. CONCLUSIONS: Point-of-care HIV testing for EID is accurate, feasible and acceptable, with benefits of early ART for all positive infants at birth facilities. We recommend that it be considered best practice for EID. TRIAL REGISTRATION: ISRCTN38911104 registered 9 January 2018 - retrospectively registered.


Assuntos
Infecções por HIV/diagnóstico , HIV , Implementação de Plano de Saúde , Triagem Neonatal/métodos , Sistemas Automatizados de Assistência Junto ao Leito , Diagnóstico Precoce , Feminino , Infecções por HIV/prevenção & controle , Infecções por HIV/transmissão , Humanos , Recém-Nascido , Transmissão Vertical de Doença Infecciosa/prevenção & controle , Masculino , Reação em Cadeia da Polimerase/métodos , Gravidez , Estudos Retrospectivos , África do Sul
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