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1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
BMC Med Genet ; 20(1): 93, 2019 05 30.
Artigo em Inglês | MEDLINE | ID: mdl-31146700

RESUMO

BACKGROUND: CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is the major cause of CHARGE syndrome and is inherited in an autosomal dominant manner. Currently, the phenotype spectrum of CHARGE syndrome in neonatal population remain elusive. We aimed to investigate the phenotype spectrum of neonatal patients suspected to have CHARGE syndrome with pathogenic or likely pathogenic variants in the CHD7 gene. METHODS: We pooled next-generation sequencing data from the Neonatal Birth Defects Cohort (NBDC, ClinicalTrials.gov Identifier: NCT02551081) in Children's Hospital of Fudan University. The pathogenicity of novel variants was analyzed by bioinformatic and genetic analyses. Clinical information collection, Sanger sequencing and follow-up interviews were performed when possible. Cranial MRI of these patients was performed, the volumes of different regions of the brain were analyzed. RESULTS: A total of 12 unrelated patients in our cohort were found with CHD7 variants. Eight patients received a firm clinical diagnosis of CHARGE syndrome (Bergmann criteria, Blake criteria, Verloes criteria and Hale criteria). Three patients did not match any diagnostic criteria, and no patients matched the Verloes criteria. Phenotype spectrum analysis found that feeding difficulty was the dominant feature among this neonatal cohort. Six novel variants in the CHD7 gene (Glu2408*, Lys651*, c.5607 + 1G > T, Leu373Val, Lys2005Asnfs*37 and Gln1991*) were identified, expanding the variant database of the CHD7 gene. Cranial MRI analysis revealed significant volume loss in cingulate gyrus, occipital lobe, and cerebellum and volume gain in the left medial and inferior temporal gyri anterior white matter parts. CONCLUSIONS: Based on a relatively unbiased neonatal cohort, we concluded that CHARGE syndrome and CHD7 gene variants should be suspected in newborns who have feeding difficulty, and one or more malformations. TRIAL REGISTRATION: Neonatal Birth Defects Cohort (NBDC, ClinicalTrials.gov identifier: NCT02551081 ).


Assuntos
Síndrome CHARGE/genética , DNA Helicases/genética , Proteínas de Ligação a DNA/genética , Transtornos da Alimentação e da Ingestão de Alimentos/genética , Predisposição Genética para Doença/genética , Mutação , Grupo com Ancestrais do Continente Asiático/genética , Síndrome CHARGE/diagnóstico , Síndrome CHARGE/etnologia , China , Estudos de Coortes , Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Transtornos da Alimentação e da Ingestão de Alimentos/etnologia , Feminino , Predisposição Genética para Doença/etnologia , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Fenótipo , Curva ROC
9.
J Pediatr Ophthalmol Strabismus ; 56(3): 157-161, 2019 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-31116862

RESUMO

PURPOSE: To evaluate the validity of remote telemedicine screening for retinopathy of prematurity (ROP) in a population of at-risk preterm infants in Iowa and South Dakota. METHODS: The medical records for all preterm infants screened for ROP at neonatal intensive care units (NICUs) in Sioux City, Iowa, and Sioux Falls, South Dakota, from September 1, 2017, to July 31, 2018, were retrospectively reviewed. The RetCam Shuttle (Natus Medical Inc., Pleasanton, CA) was used to capture retinal images, which were posted on a secure server for evaluation by a pediatric ophthalmologist. Infants with suspected ROP approaching the criteria for treatment with anti-vascular endothelial growth factor (VEGF) medications were transferred to the Children's Hospital and Medical Center NICU in Omaha, Nebraska, where a comprehensive examination was performed and treatment was administered when indicated. The remaining infants received an outpatient comprehensive examination by one of two pediatric ophthalmologists within 2 weeks of discharge. RESULTS: A total of 124 telemedicine examinations were performed on 35 infants during the study period. Remote telemedicine screening for referral-warranted ROP using the RetCam Shuttle had a sensitivity of 100%, specificity of 97%, positive predictive value of 66.7%, and negative predictive value of 100%. Of the three infants transferred for referral-warranted ROP, two required treatment with anti-VEGF medications. Good outcomes were noted in all cases, and no patients progressed beyond stage 3 ROP. CONCLUSIONS: Telemedicine screening reliably detected referral-warranted ROP in at-risk premature infants at two remote sites, with no poor outcomes during the 11-month period. These results demonstrate the validity and utility of remote telemedicine screening for ROP. [J Pediatr Ophthalmol Strabismus. 2019;56(3):157-161.].


Assuntos
Triagem Neonatal/métodos , Retinopatia da Prematuridade/diagnóstico , Telemedicina/instrumentação , Desenho de Equipamento , Feminino , Seguimentos , Idade Gestacional , Humanos , Incidência , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Iowa/epidemiologia , Masculino , Oftalmoscopia/métodos , Reprodutibilidade dos Testes , Retinopatia da Prematuridade/epidemiologia , Estudos Retrospectivos , Índice de Gravidade de Doença , South Dakota/epidemiologia
10.
J Pediatr Ophthalmol Strabismus ; 56(3): 168-172, 2019 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-31116864

RESUMO

PURPOSE: To examine the relationship between post-natal growth and development of retinopathy of prematurity (ROP) among preterm infants in southwestern Ontario. METHODS: The medical records of 431 preterm infants, born between January 1, 2008, and June 1, 2015, with a gestational age (GA) of less than 31 weeks or birth weight (BW) of less than 1,250 g were reviewed. Information collected included pregnancy and birth history, neonatal characteristics, ROP status, comorbidities, and postnatal weight measurements at specified intervals. Infants diagnosed as having ROP and no ROP were compared. RESULTS: Low weight velocity from day 7 to day 28 (P < .001), high weight velocity from birth to first day of full enteral feeding (FEF) (P < .001), long duration from birth to FEF (P < .001), and long duration from FEF to discharge/transfer (P < .001) were associated with ROP. After controlling for GA and BW, the durations, birth to FEF, and FEF to discharge/transfer remained significant (P < .05). In a multivariable logistic regression analysis adjusting for GA, bronchopulmonary dysplasia, and surgical ligation for patent ductus arteriosus, the only independent risk factor of ROP was duration from FEF to discharge/transfer (P < .05). CONCLUSIONS: Low weight velocity from day 7 to day 28 may be a useful predictor for the development of ROP but is dependent on GA and BW. A delay to reach FEF, which is associated with comorbidities of ROP, appears to be a risk factor for ROP that is independent of GA and BW. [J Pediatr Ophthalmol Strabismus. 2019;56(3):168-172.].


Assuntos
Recém-Nascido de muito Baixo Peso , Triagem Neonatal/métodos , Retinopatia da Prematuridade/epidemiologia , Ganho de Peso/fisiologia , Peso ao Nascer , Progressão da Doença , Feminino , Seguimentos , Idade Gestacional , Humanos , Incidência , Recém-Nascido , Masculino , Ontário/epidemiologia , Retinopatia da Prematuridade/diagnóstico , Retinopatia da Prematuridade/etiologia , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo
11.
Medicine (Baltimore) ; 98(19): e15500, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31083189

RESUMO

It is required that the clinical screening of metabolic disorders in newborns meet International Organization for Standardization 15189-2012 approval. The new tandem mass spectrometry (MS/MS) based screening system and its companion reagent should be independently authenticated before their implementation in clinical diagnosis laboratories.Linearity, stability, accuracy, and precision evaluations were carried out to verify the performance of the Waters ACQUITY TQD MS/MS system with the NeoBase non-derivatized MS/MS PerkinElmer kit for detecting amino acids and acylcarnitine in newborns with metabolic disorders.Statistically, the correlation coefficient (R) of 0.9982 to 0.9999 indicates good linearity. The measurements at the beginning and end of the reagent storage procedure were taken for stability verification. No significant difference was detected between the 2 periods. The amino acid exhibited a degree of bias in the range of 0% to 14.17%, with acylcarnitine's being was in the range of 0% to 14.84%; they consequently passed the quality assessment requirements for clinical laboratories of the China National Centre. The amino acids' within-run, between-run, and day-to-day run precision were 1.19% to 7.68%, 1.63% to 5.01%, and 4.77% to 12.48%, respectively, while the total imprecision was 5.55% to 13.33%. Acylcarnitine's within-run, between-run, and day-to-day run precision was 1.2% to 8.43%, 0.19% to 9.60%, and 2.33% to 10.74%, respectively, while it's total imprecision was 6.57% to 13.99%. The manufacturer declared that the total imprecision of the tests, using Multiple Reaction Monitoring, should be less than or equal to 25% of the coefficient of variation for the kit's high and low-quality control levels.The performance of the non-derivatized MS/MS screening system in detecting the amino acids and acylcarnitines passed the test's requirements. It was maintained in accordance with the routine clinical chemical detection system.


Assuntos
Espectrometria de Massas/métodos , Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal/métodos , Humanos , Recém-Nascido
12.
J Laryngol Otol ; 133(5): 363-367, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31070117

RESUMO

OBJECTIVES: This study aimed to compare the diagnostic reliabilities of transient evoked otoacoustic emissions, automated auditory brainstem responses and brainstem auditory evoked responses for detecting hearing loss, and to use the information regarding hearing level of automated auditory brainstem responses for planning rehabilitation. METHODS: A total of 144 high-risk infants (288 ears) completed the 3 hearing tests. The sensitivity and specificity of otoacoustic emissions and automated auditory brainstem responses were compared using the chi-square test. RESULTS: Automated auditory brainstem response was the most reliable test of hearing levels, with a sensitivity of 91.7 per cent and specificity of 92.1 per cent; the sensitivity of otoacoustic emissions was 78.7 per cent and the specificity was 88.8 per cent. CONCLUSION: Automated auditory brainstem responses have acceptably high sensitivity and specificity. Additionally, the hearing level from automated auditory brainstem responses can help the screeners explain to the parents the importance of further diagnosis and rehabilitation.


Assuntos
Audiometria de Resposta Evocada/estatística & dados numéricos , Potenciais Evocados Auditivos do Tronco Encefálico , Perda Auditiva/diagnóstico , Triagem Neonatal/métodos , Emissões Otoacústicas Espontâneas , Distribuição de Qui-Quadrado , Feminino , Humanos , Recém-Nascido , Masculino , Reprodutibilidade dos Testes , Fatores de Risco , Sensibilidade e Especificidade , Tailândia
13.
Asia Pac J Ophthalmol (Phila) ; 8(2): 178-186, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31037876

RESUMO

Retinopathy of prematurity (ROP) is a leading cause of preventable childhood blindness worldwide. Barriers to ROP screening and difficulties with subsequent evaluation and management include poor access to care, lack of physicians trained in ROP, and issues with objective documentation. Digital retinal imaging can help address these barriers and improve our knowledge of the pathophysiology of the disease. Advancements in technology have led to new, non-mydriatic and mydriatic cameras with wider fields of view as well as devices that can simultaneously incorporate fluorescein angiography, optical coherence tomography (OCT), and OCT angiography. Image analysis in ROP is also being employed through smartphones and computer-based software. Telemedicine programs in the United States and worldwide have utilized imaging to extend ROP screening to infants in remote areas and have shown that digital retinal imaging can be reliable, accurate, and cost-effective. In addition, tele-education programs are also using digital retinal images to increase the number of healthcare providers trained in ROP. Although indirect ophthalmoscopy is still an important skill for screening, digital retinal imaging holds promise for more widespread screening and management of ROP.


Assuntos
Processamento de Imagem Assistida por Computador/métodos , Triagem Neonatal/métodos , Oftalmoscopia/métodos , Retinopatia da Prematuridade/diagnóstico por imagem , Acesso aos Serviços de Saúde/organização & administração , Humanos , Recém-Nascido , Triagem Neonatal/organização & administração , Reprodutibilidade dos Testes , Telemedicina/métodos , Tomografia de Coerência Óptica
14.
Indian J Ophthalmol ; 67(6): 726-731, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31124480

RESUMO

Many of the causes of childhood blindness are avoidable, being either preventable or treatable. Retinopathy of prematurity (ROP) remains one of the most preventable causes of childhood blindness worldwide. Currently, India is facing the third epidemic of ROP. In India, the health system involving the mother and child health services needs to be strengthened with a policy to cover the existing inadequacies in neonatal care and implementation of program covering newborn, especially premature. The access, availability, and affordability of services related to the care of premature babies need strengthening in India. ROP-trained ophthalmologists and neonatal care pediatricians and a professional togetherness is a big issue. Inadequacies in awareness of ROP among the parents, health care workers, counsellors add up to the problem. Community-based health workers such as Accredited Social Health Activist are a good dependable force in India and are needed to be trained in awareness and establishing a proper identification for prompt referral. ROP prevention needs a multidisciplinary team approach. ROP management stands as a good example of all the strategies for prevention, which includes primary prevention (improving obstetric and neonatal care), secondary prevention (screening and treatment programs), and tertiary prevention (treating complications and rehabilitation to reduce disability). Given its demographic and cultural diversity, India faces numerous challenges, with significant rural-urban, poor-rich, gender, socioeconomic, and regional differences. So, we need to gear up to face the present challenge of the third epidemic of ROP and prevent ROP-related childhood blindness as it is the need of the hour.


Assuntos
Cegueira , Triagem Neonatal/métodos , Retinopatia da Prematuridade/epidemiologia , Cegueira/epidemiologia , Cegueira/etiologia , Cegueira/prevenção & controle , Humanos , Incidência , Índia/epidemiologia , Recém-Nascido , Prevalência , Retinopatia da Prematuridade/complicações , Retinopatia da Prematuridade/diagnóstico
15.
Indian J Ophthalmol ; 67(6): 816-818, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31124493

RESUMO

Purpose: Retinopathy of prematurity (ROP) is now emerging as one of the major causes of preventable childhood blindness. The proportion of preterm babies has increased dramatically over the past decade. Our study aims to emphasize the need for ROP screening and management services in these preterm infants. Methods: ICD-coded medical records of children less than 10 years of age presenting to a subspecialty eye hospital from 2000 to 2017 were reviewed. ROP, congenital cataract, congenital glaucoma, and vitamin A deficiency were the most common diagnoses. We evaluated the trend of these diseases from 2000 to 2017. Results: Our data suggested a 20-fold increase in the attendance of children with a diagnosis of ROP who now make over 2% of outpatient children. Vitamin A deficiency has declined over time whereas cataract and glaucoma have remained stable. Conclusion: Our data indicate a need to scale up ROP screening integrated with neonatal care, as well as to build capacity for the treatment of acute and late-stage ROP in India.


Assuntos
Cegueira/epidemiologia , Triagem Neonatal/métodos , Retinopatia da Prematuridade/epidemiologia , Medição de Risco/métodos , Centros de Atenção Terciária/estatística & dados numéricos , Acuidade Visual , Cegueira/etiologia , Criança , Pré-Escolar , Feminino , Idade Gestacional , Humanos , Incidência , Índia/epidemiologia , Lactente , Recém-Nascido , Masculino , Prevalência , Retinopatia da Prematuridade/complicações , Retinopatia da Prematuridade/diagnóstico , Estudos Retrospectivos , Fatores de Risco
16.
Indian J Ophthalmol ; 67(6): 819-823, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31124494

RESUMO

Purpose: To describe the prevalence, characteristics including risk factors, and pattern of severe ROP from eastern Madhya Pradesh region of India. Methods: In this 5-year retrospective study, Baseline characteristics, systemic risk factors, and findings of ROP screening were noted. Factors associated with severe ROP including aggressive posterior ROP (APROP), stage IV and V ROP were analyzed. Statistical analysis was done using SPSS version 20. Results: Of 763 babies screened, 30% were diagnosed to have ROP. Prevalence of severe ROP was 14.2% (109) of which 60 (55.5%) were classic and 30 (27.7%) were APROP. Eighteen (16.6%) were diagnosed as advanced ROP (stage IV and V). Mean gestational age (GA) and birth weight (BW) for severe ROP were 31.05 weeks and 1.34 kg, respectively which were inversely associated with severe ROP. But a significant 10% of severe ROP were seen in late preterm babies, >34 weeks. Low GA and respiratory distress syndrome (RDS) were significant risk factors for APROP. Most important factor for stage IV and V ROP was late presentation for screening. Conclusion: The study found a high prevalence of severe ROP including APROP. Almost 7% severe ROP cases were outside screening guidelines of NNF. Late presentation for screening is the most important factor associated with ROP related blindness.


Assuntos
Triagem Neonatal/métodos , Retinopatia da Prematuridade/epidemiologia , Medição de Risco/métodos , Cegueira/epidemiologia , Cegueira/etiologia , Progressão da Doença , Feminino , Seguimentos , Idade Gestacional , Humanos , Índia , Lactente , Recém-Nascido , Masculino , Prevalência , Prognóstico , Retinopatia da Prematuridade/complicações , Retinopatia da Prematuridade/diagnóstico , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Fatores de Tempo
17.
Indian J Ophthalmol ; 67(6): 824-827, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31124495

RESUMO

Purpose: To analyze the causes for late presentation in a series of patients with advanced retinopathy of prematurity (ROP) in a tertiary eye care institute in Eastern India. Methods: We analyzed our medical records and ROP database retrospectively from 2007 to 2015 and prospectively thereafter till 2017 to identify the factors for late presentation in babies with advanced ROP (stages 4 and 5). Results: A total of 71 eligible subjects were analyzed. The mean chronological age was 15.1 months (2 months to 14 years). The three important barriers were: (1) the system and neonatal care policy failure (n = 45; 63.3%), (2) parental negligence and ignorance (n = 19; 26.7%), and (3) ophthalmologist's misdiagnosis or unavailability (n = 7; 10%). Majority of the babies (63.3%) were admitted in the neonatal care unit when they were due for ROP screening with an average duration of stay of 35.5 days. Conclusion: The main barriers to early screening for ROP were related to availability of trained human resources, ignorance of "parents and health care personnel," and distance from the point of care. This calls for training of ophthalmologists, advocacy with neonatologists and parents, and create systems for better coordination and compliance of the care providers.


Assuntos
Assistência à Saúde/organização & administração , Triagem Neonatal/métodos , Tempo para o Tratamento/estatística & dados numéricos , Seleção Visual/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Idade Gestacional , Humanos , Incidência , Índia/epidemiologia , Recém-Nascido , Masculino , Prognóstico , Retinopatia da Prematuridade/diagnóstico , Retinopatia da Prematuridade/epidemiologia , Estudos Retrospectivos , Fatores de Risco
18.
Indian J Ophthalmol ; 67(6): 828-833, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31124496

RESUMO

Purpose: The purpose was to study the incidence, risk factors, and anatomical outcomes after laser treatment in retinopathy of prematurity (ROP). Methods: A retrospective observational study was carried out. Infants admitted to Neonatal Intensive Care Unit of 12 referral hospitals between April 2016 and September 2017 were screened according to the latest Indian guidelines based on the International Classification of Retinopathy of Prematurity. Results: The incidence of ROP in 1648 eyes screened was 25.36% (418 eyes), out of which high-risk prethreshold ROP (type 1) was observed in 9.95% (164 eyes). Decreased hemoglobin (P < 0.001), oxygen requirement (P = 0.008), and number of blood transfusions (P = 0.037) were significant with type 1 than type 2 (low-risk prethreshold) ROP. Stages 1, 2, and 3 were observed in 82 (32.28%), 154 (60.62%), and 18 (7.08%) eyes, respectively. Aggressive posterior ROP (APROP) was observed in 20.73% eyes with type 1 ROP. Ten eyes showing APROP were treated at an early gestational age of 29 weeks. All infants with type 1 ROP were treated with laser photocoagulation only. Conclusion: One-fourth of the infants showed ROP and one-tenth needed laser photocoagulation, the outcome of which was excellent. Risk factors predisposing to ROP were anemia, high oxygen supplementation, increased number of blood transfusions, and septicemia. ROP screening in infants ≥1700 g birth weight associated with various systemic risk factors may be beneficial in the Indian population.


Assuntos
Unidades de Terapia Intensiva Neonatal , Fotocoagulação a Laser/métodos , Triagem Neonatal/métodos , Retinopatia da Prematuridade/diagnóstico , Acuidade Visual , Feminino , Idade Gestacional , Humanos , Incidência , Índia/epidemiologia , Recém-Nascido , Masculino , Oftalmoscopia/métodos , Retinopatia da Prematuridade/epidemiologia , Retinopatia da Prematuridade/cirurgia , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento
19.
Indian J Ophthalmol ; 67(6): 834-839, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31124497

RESUMO

Purpose: The gold standard for evaluating Retinopathy of prematurity (ROP), a potentially blinding disease in preterm babies, is by indirect ophthalmoscopy which is quite subjective. Digital imaging with RetCam, an advanced wide field imaging system is more precise but it is not easily available or affordable. Smartphones are being explored as an alternate cost effective and accessible imaging tool. This is possible because of the good illumination and the built-in high resolution cameras available in modern smartphones. The aim of this study is to illustrate the utility of MII RetCam assisted smartphone based fundus imaging (MSFI) in the documentation and monitoring of ROP. Methods: Single-centre, retrospective observational study of all the preterm babies subjected to MSFI as part of ROP screening from September 2017 to November 2018. iPhone 4S and + 20 Diopter lens attached to the MII RetCam device was used for fundus imaging at baseline and during follow up. The statistical analysis used for the same is the SPSS statistical software. Results: Good quality images of central and peripheral retina could be captured in 33 out of 42 babies (78.57%) with ROP. Serial imaging done in 24 babies with ROP helped in precise monitoring of the disease and planning management. Incidentally detected non-ROP findings were also documented. Unique design of the device enabled imaging by a single examiner. Image database created was useful for academic and counselling purposes. Smaller field images which can cause difficulty in distinguishing the zones is a limitation. Conclusion: MSFI is a potential alternate imaging tool enabling objective documentation and monitoring of ROP in low resource settings.


Assuntos
Triagem Neonatal/métodos , Retinopatia da Prematuridade/diagnóstico , Smartphone , Telemedicina/instrumentação , Desenho de Equipamento , Feminino , Seguimentos , Fundo de Olho , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Valor Preditivo dos Testes , Estudos Retrospectivos
20.
Indian J Ophthalmol ; 67(6): 846-853, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31124500

RESUMO

Purpose: To use the extent of retinal immaturity at the first visit to predict progression to any stage and treatment-requiring retinopathy of prematurity (ROP). Methods: Retrospective, multicenter, nonrandomized, observational, clinical, validation study. In all, 601 Asian Indian preterm infants born < 2000 g and/or < 34 weeks of gestation completing ROP screening with RetCam images taken during each visit were included. A total of 1202 eyes of these infants were classified into three groups based on the retinal immaturity at the first screening visit into "mild" (Group 1), vessels reaching the posterior boundary of zone 3; "moderate" (Group 2), vessels entering zone 2 anterior; and "severe" (Group 3), vessels in zone 1 or zone 2 posterior. RetCam images at each subsequent visit were evaluated and the proportion of eyes that progressed to Type 1 or Type 2 ROP was correlated with the degree of retinal immaturity. Results: Of the 958 eyes in Group 1, 200 eyes in Group 2, and 44 eyes in Group 3, any stage ROP developed in 15% of eyes in Group 1, 46.5% of eyes in Group 2, and 100% of eyes in Group 3 (P < 0.001). Sixteen of 128 eyes (12.5%), 12 of 72 (16.6%), and 28 of 44 of eyes (63.6%) in Groups 1, 2, and 3, respectively, required treatment (P < 0.001). Conclusion: Retinal immaturity at first screening visit predicts Type 1 and Type 2 ROP. "Severe" immaturity is more likely to progress to "treatment-requiring" disease. This could be a useful tool for prognostication, counseling, and scheduling follow-up.


Assuntos
Triagem Neonatal/métodos , Retina/patologia , Vasos Retinianos/diagnóstico por imagem , Retinopatia da Prematuridade/diagnóstico , Progressão da Doença , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Reprodutibilidade dos Testes , Estudos Retrospectivos , Acuidade Visual
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