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1.
Rev Esp Salud Publica ; 942020 Dec 16.
Artigo em Espanhol | MEDLINE | ID: mdl-33323921

RESUMO

Faced with the prospect of a collapsed health system due to the COVID-19 pandemic, the professionals involved in the Neonatal Screening Programme (NSP) of Catalonia had to adapt to this situation in a flexible, forceful and efficient manner. The most important goals were to prevent the risk of infection in the professionals, in families and their newborns, as well as to ensure the same effectiveness for the early detection of the diseases included in our programme. To this end, the laboratory was reorganised by dividing the staff into groups and the spaces were redistributed. It was also necessary to modify several protocols and circuits, especially for the management of early discharges from maternity centres, and for the collection of the necessary second samples (from newborns with inconclusive results or for low quality samples). In general, a 36% reduction in the time of arrival of these second samples at the laboratory was achieved with respect to the previous circuit. In the specific case of cystic fibrosis detection, the implementation of a new strategy meant a 100% reduction in the request for second samples and a 70% reduction in the age of diagnosis of the newborn. After evaluating these changes, it can be concluded that in the face of the pandemic, the NSP of Catalonia showed determined leadership, aligning all its professionals, ensuring the continuity of the activity in the programme and generating new opportunities. The new processes and circuits implemented have been definitively consolidated, improving the efficiency of the programme.


Assuntos
/epidemiologia , Fibrose Cística/diagnóstico , Triagem Neonatal/métodos , Triagem Neonatal/tendências , Feminino , Humanos , Recém-Nascido , Laboratórios , Liderança , Pandemias , Gravidez , Risco , Espanha/epidemiologia
2.
Rev Esp Salud Publica ; 942020 Dec 16.
Artigo em Espanhol | MEDLINE | ID: mdl-33323923

RESUMO

OBJECTIVE: The purpose of this paper was to describe the diagnosis, treatment and follow-up of patients diagnosed with congenital hypothyroidism (CH) by the Neonatal Screening Program in the Autonomous Community of Madrid during the state of alarm due to the COVID-19 health crisis. METHODS: The data were extracted from the retrospective analysis of patients diagnosed with CH and treated at the Clinical Diagnosis and Follow-up Center of CH located in the Pediatric Endocrinology Unit of the General University Hospital Gregorio Marañon. RESULTS: During the period between March 14 and June 21, 2020, 7 neonates were diagnosed with congenital hypothyroidism. The Screening Center contacted the Clinical Diagnosis and Follow-up Center urgently, with the location and clinical assessment of the patient on the same day, performing the usual complementary examinations in all of them according to clinical pathway. The median age of diagnosis was 15.5 days (range 7.00-24.00). The subsequent clinical and analytical follow-up was carried out in all cases according to the recommended times. All patients presented normalization of the thyroid function after two weeks of treatment. CONCLUSIONS: All patients seen at the Congenital Hypothyroidism Clinical Diagnosis and Follow-up Center during the alarm state period were diagnosed, treated and reevaluated following the usual clinical pathways without incidents. The current epidemiological situation of the COVID-19 pandemic has revealed the correct functioning of the circuit of the Congenital Hypothyroidism Screening Program in less favorable circumstances.


Assuntos
/epidemiologia , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/epidemiologia , Triagem Neonatal/métodos , /complicações , Hipotireoidismo Congênito/complicações , Feminino , Seguimentos , Humanos , Recém-Nascido , Masculino , Triagem Neonatal/tendências , Pandemias , Estudos Retrospectivos , Espanha/epidemiologia
3.
Rev Esp Salud Publica ; 942020 Dec 16.
Artigo em Espanhol | MEDLINE | ID: mdl-33372916

RESUMO

OBJECTIVE: Under the declaration of the state of alarm (SA) in efforts to control COVID-19, normal development of health programs was threatened. The aim of the study was the evaluation of COVID 19 emergency and SA approval impact on neonatal Endocrine and Metabolic Disorders Program (EMDP) and Neonatal Hearing Program (HP) in Madrid. METHODS: Qualitative and quantitative descriptive study was conducted. Semistructured interview was designed and developed to picture newborn screening activities taking place from January 1st to 31st of April 2020. To describe the undergo rates of newborn screening, neonatal screening information system (RECRINE) and martenity and prenatal care units were studied. Differences were analyzed using Chi2 test (p value = 0.05). RESULTS: More than 70% interviews were reported. Early hospital discharges, between 24 and 48h, were made in more than 80% hospitals. Screening programs were adapted in more than 75% health care centers. EMDP 19 diseases, RECRINE and Clinical Reference Units (RCU) referral were conducted. No significant incidences were observed in diagnostic confirmation and treatment in the RCU. RCU were adapted because of the reorganization of health care. 88.5% of the hospitals showed higher than 95% coverage rates on Hearing screening and SEM. No differences were observed compared to the pre-epidemic period. CONCLUSIONS: Our study demonstrates PCN professionals resilience. The importance of designing periodic evaluations to understand and alleviate the COVID-19 impact is remarkable. We need to assure 2020 newborns attention health care quality.


Assuntos
/epidemiologia , Transtornos da Audição/diagnóstico , Testes Auditivos/estatística & dados numéricos , Doenças Metabólicas/diagnóstico , Triagem Neonatal/organização & administração , Feminino , Hospitais/tendências , Humanos , Incidência , Recém-Nascido , Masculino , Triagem Neonatal/tendências , Alta do Paciente , Avaliação de Programas e Projetos de Saúde , Espanha
4.
Rev. cuba. inform. méd ; 12(2): e399, tab, graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1144465

RESUMO

La hipoacusia tiene una incidencia notable entre los recién nacidos. Una intervención temprana durante el período de maduración auditiva permite minimizar los efectos en el desarrollo intelectual del infante. Se propone el desarrollo de un Registrador de Emisiones Otoacústicas Transientes como parte de un sistema de cribado neonatal basado en microcontroladores de alto rendimiento. La prueba consiste en aplicar periódicamente un estímulo tipo chasquido para obtener la respuesta coclear. Se promedian las señales adquiridas y se aplica la Transformada Rápida de Fourier. El espectro obtenido es dividido en bandas de media octava para analizar la correlación y la relación señal-ruido. Si estos parámetros son mayores que los umbrales de referencia en la mayoría de las bandas, se considera al paciente apto para el desarrollo normal. El firmware fue implementado sobre el procesador STM32F405 y evaluado con el simulador Baby Isao; obteniéndose una sensibilidad del 87.5 por ciento y una especificidad del 93.75 por ciento(AU)


Hearing loss is highly incident among newborns. Early intervention during the period of auditory maturation allows adequate levels of intellectual development to be achieved. The development of a Transient Otoacoustic Emissions Recorder is proposed as part of a neonatal screening system based on high-performance microcontrollers. The test consists of periodically applying a click stimulus to obtain the cochlear response. The acquired signals are averaged and the Fast Fourier Transform is applied. The spectrum obtained is divided into half-octave bands to assess the correlation as well as the signal-noise ratio. If these parameters are greater than the reference thresholds in most of the bands, the patient is considered suitable for normal cognitive development. The firmware was implemented on the STM32F405 processor and evaluated with the Baby Isao simulator; obtaining a sensitivity of 87.5 percent and a specificity of 93.75 percent(AU)


Assuntos
Humanos , Masculino , Feminino , Lactente , Triagem Neonatal , Emissões Otoacústicas Espontâneas , Análise de Fourier , Perda Auditiva/epidemiologia
5.
Zhonghua Yu Fang Yi Xue Za Zhi ; 54(11): 1275-1282, 2020 Nov 06.
Artigo em Chinês | MEDLINE | ID: mdl-33147929

RESUMO

Objective: To reveal the relationship between G6PD genotypes and the G6PD enzyme activities in dried blood spots of newborn screening. Methods: Simple random sampling procedure was used in this study. The fluorescence PCR melting curve analysis was performed to classify G6PD gene variants in 635 neonates coming from Guangzhou Newborn Screening Center during October 1 to 20, 2016, including 15 reported variants. Those samples consisted of 377 cases with screening positive results (261 from males and 116 from females) and 258 cases with screening negative results (32 from males and 226 from females). The cut-off value of G6PD was less than 2.6 U/g Hb in dry blood spots. Sanger sequencing for G6PD gene was used in 7 cases with screening negative results under simple random sampling. One-way ANOVA and least significant difference method (LSD) test were performed to compare the difference of G6PD activity among genotypes. Results: The top 6 frequency of G6PD gene variants were c.1388G>A(35.07%), c.1376G>T(32.13%), c.95A>G(12.72%), c.871G>A(8.32%), c.1024C>T(4.08%) and c.392G>T(2.28%), accounting for 94.62% of all variant alleles (580/613). A total of 253 males positive for enzyme activity were detected to have gene mutations. The positive rate of G6PD enzyme activity was 98.06%(253/258). The mean values of G6PD activities for c.1376G>T,c.95A>G and c.1388G>A were 0.85, 1.10 and 1.28 U/g Hb, respectively. There were significant differences among the three groups (F=28.7, P<0.01). A total of 105 females positive for enzyme activity were detected to have gene mutations. The positive rate of G6PD enzyme activity was 90.52%(105/116). The positive rate of G6PD enzyme activity was 26.95% among 256 females with one point mutation while it was 83.72% in females with multi-allele variants. The G6PD activity of heterozygous females was (2.9±0.8) U/g Hb, which was significant higher than that of females with multi-allele variants (1.5±1.0) U/g Hb (t=8.6,P<0.01). Conclusions: G6PD activities in dried blood spots were related to G6PD genotypes in males. They were also associated with the numbers of allele variants in females. Newborn screening for G6PD deficiency can be used to detect most of G6PD-deficient hemizygotes and female patients with multi-allele variants, which is helpful for preventing neonatal jaundice and medicine application.


Assuntos
Deficiência de Glucosefosfato Desidrogenase , Glucosefosfato Desidrogenase , Feminino , Genótipo , Glucosefosfato Desidrogenase/genética , Deficiência de Glucosefosfato Desidrogenase/genética , Heterozigoto , Humanos , Recém-Nascido , Masculino , Mutação , Triagem Neonatal
6.
Bone Joint J ; 102-B(11): 1582-1586, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33135434

RESUMO

AIMS: To assess if congenital foot deformity is a risk factor for developmental dysplasia of the hip (DDH). METHODS: Between 1996 and 2012, 60,844 children were born in Sør-Trøndelag county in Norway. In this cohort study, children with risk factors for DDH were examined using ultrasound. The risk factors evaluated were clinical hip instability, breech delivery, a family history of DDH, a foot deformity, and some syndromes. As the aim of the study was to examine the risk for DDH and foot deformity in the general population, children with syndromes were excluded. The information has been prospectively registered and retrospectively analyzed. RESULTS: Overall, 494 children (0.8%) had DDH, and 1,132 (1.9%) a foot deformity. Of the children with a foot deformity, 49 (4.3%) also demonstrated DDH. There was a statistically significant increased association between DDH and foot deformity (p < 0.001). The risk of DDH was highest for talipes calcaneovalgus (6.1%) and club foot (3.5%), whereas metatarsus adductus (1.5%) had a marginal increased risk of DDH. CONCLUSION: Compared with the general population, children with a congenital foot deformity had a significantly increased risk for DDH and therefore we regard foot deformity as a true risk factor for DDH. Cite this article: Bone Joint J 2020;102-B(11):1582-1586.


Assuntos
Deformidades Congênitas do Pé/diagnóstico , Luxação Congênita de Quadril/diagnóstico , Deformidades Congênitas do Pé/complicações , Deformidades Congênitas do Pé/diagnóstico por imagem , Luxação Congênita de Quadril/complicações , Luxação Congênita de Quadril/diagnóstico por imagem , Humanos , Recém-Nascido , Triagem Neonatal , Fatores de Risco
7.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 49(5): 556-564, 2020 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-33210480

RESUMO

OBJECTIVE: To investigate the incidence,clinical,biochemical and genetic characteristics of isovaleric acidemia (IVA) in Zhejiang province. METHODS: Between January 2009 and December 2019, a total of 3 510 004 newborns were screened for IVA using tandem mass spectrometry. Patients of IVA were confirmed by urine organic acid and IVD gene detection. IVA patients were given diet and life management, supplemented with L-carnitine and glycine treatment, long-term followed up to observe and evaluate the growth and intellectual development. RESULTS: A total of 15 patients with IVA were diagnosed, with an incidence of 1/234 000. Three patients had acute neonatal IVA, and the rest were asymptomatic. The isovalerylcarnitine (C5) levels were increased in all patients. Twelve children underwent urinary organic acid analysis, of which 11 cases had elevated isovalerylglycine levels, 4 cases with 3-hydroxyisovalerate increased simultaneously. Eleven IVA patients underwent genetic testing, 9 patients were compound heterozygous variants in IVD gene, one with homozygous variants in IVD gene, and one harbored one IVD variant. Nineteen IVD variants (14 missense mutations, 3 intron mutations, 1 code shift mutation, and 1 synonymous mutation) were identified, 11 of which were not reported. Among the 15 IVA patients, one patient died and two patients were followed up locally. The remaining patients had no obvious clinical symptoms during the follow-up (2-79 months). Three patients presented with growth and development delay, the remaining had normal physical and mental development. CONCLUSIONS: The clinical manifestations of IVA are non-specific, and the gene spectrum is scattered. Newborn patients screened by tandem mass spectrometry can receive early diagnosis and treatment, so as to correct metabolic defects and pathophysiological changes.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Isovaleril-CoA Desidrogenase/deficiência , Triagem Neonatal , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/epidemiologia , Criança , China/epidemiologia , Humanos , Recém-Nascido , Isovaleril-CoA Desidrogenase/genética , Mutação , Espectrometria de Massas em Tandem
8.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 49(5): 565-573, 2020 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-33210481

RESUMO

OBJECTIVE: To explore effects of different delivery and storage conditions on concentrations of amino acids and carnitines in neonatal dried blood spots (DBS), so as to provide evidence for improving accurate and reliable detection by tandem mass spectrometry. METHODS: A total of 1 254 616 newborn DBS samples in Newborn Screening Center of Zhejiang Province were delivered and stored at room temperature (group A, n=338 467), delivered by cold-chain logistics system and stored at low temperature (group B, n=480 021), or delivered by cold-chain logistics system and stored at low temperature and low humidity (group C, n= 436 128), respectively. The concentrations of amino acids and carnitines in DBS were detected by tandem mass spectrometry. Data analysis was performed by SPSS 24.0 to explore the influence of temperature and humidity on the concentrations of amino acids and carnitines. RESULTS: The concentrations of amino acids and carnitines in the three groups were skewed, and the differences in amino acid and carnitine concentrations among groups were statistically significant (all P<0.01). The median concentration of tyrosine was lower in group A than those in group B and group C by 18%and 16%respectively, while there was no significant difference between the last two groups. The median concentrations of methionine were lower in group A and group B than that in group C by 15%and 11%, respectively. The median concentrations of arginine were lower in group A and group B than that in group C by 12%and 25%, respectively. The median concentration of free carnitine (C0) was higher in group A than that in group C by 12%, while there was no significant difference between group A and group B. The median concentrations of acetylcarnitine (C2), propionyl carnitine (C3), C3DC+C4OH, C5DC+C6OH and hexadecanoyl carnitine (C16) were lower in group A than those in group B and group C by 21%-64%. The concentrations of other amino acids and acylcarnitines differed little among three groups. The monthly median coefficients of variation of other amino acids and carnitines in group A were higher than those in group B and group C except for citrulline, C4DC+C5OH and isovalerylcarnitine (C5). CONCLUSIONS: Cold-chain logistics system and storage in low temperature and low humidity can effectively reduce degradation of some amino acids and carnitines in DBS, improve the accuracy and reliability of detection, and thus ensures the quality of screening for neonatal metabolic diseases.


Assuntos
Aminoácidos , Teste em Amostras de Sangue Seco , Triagem Neonatal , Aminoácidos/análise , Carnitina/análise , Teste em Amostras de Sangue Seco/métodos , Teste em Amostras de Sangue Seco/normas , Humanos , Umidade , Recém-Nascido , Reprodutibilidade dos Testes , Manejo de Espécimes/normas , Espectrometria de Massas em Tandem , Temperatura , Fatores de Tempo
9.
Harefuah ; 159(10): 726-730, 2020 Oct.
Artigo em Hebraico | MEDLINE | ID: mdl-33103390

RESUMO

BACKGROUND: Cortisol is a stress response marker. During pregnancy and delivery, cortisol levels are elevated, especially in complicated deliveries. Blood cortisol levels can increase 17-hydroxyprogesterone (17-OHP) levels in the mother during delivery, however this effect was not elucidate in newborn infants. OBJECTIVES: To investigate whether there is a correlation between umbilical cord cortisol and 17-OHP levels in the newborn, leading to false results in the newborn screening tests. METHODS: Umbilical cord cortisol levels together with maternal delivery data were analyzed at Meir Medical Center during 2015-2016. The newborn screening test was performed in all newborns at 36 to 72 hours after birth, and data on 17-OHP levels were recorded. A correlation between mode of delivery, umbilical cord cortisol level and 17-OH- P levels of the newborn screening tests was conducted. RESULTS: A total of 122 newborn infants were included in the study. The mean cord cortisol levels were 12.3±4.1 mcg/dL. Vacuum extraction deliveries were associated with the higher cord cortisol level compared to unplanned cesarean section deliveries, planned cesarean sections and vaginal deliveries (all p<0.03). Unplanned cesarean sections had higher umbilical cord cortisol levels compared to planned cesarean section and vaginal delivery ( all p<0.05). All infants had 17-OHP levels within normal limits (<35 nM), with no correlation to umbilical cord cortisol levels (r=0.012, p=0.26). CONCLUSIONS: Vacuum extraction deliveries are associated with the highest cord cortisol level compared to unplanned cesarean section deliveries and to vaginal deliveries, however, these levels are not associated with high levels of 17-OHP of the newborn screening test. Therefore, our data does not support the hypothesis that stressful deliveries are associated with high false positive 17-OHP levels in the newborn screening test.


Assuntos
Triagem Neonatal , Cordão Umbilical , 17-alfa-Hidroxiprogesterona , Cesárea , Feminino , Sangue Fetal , Humanos , Recém-Nascido , Gravidez
10.
Ann Biol Clin (Paris) ; 78(5): 555-564, 2020 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-33026350

RESUMO

Biochemical diagnosis of hereditary metabolic diseases requires the detection and simultaneous identification of a large number of compounds, hence the interest in metabolic profiles. Amino acid chromatography allows the identification and quantification of more than forty compounds. As part of the accreditation process for medical biology examinations according to standard NF EN ISO 15189, the group from SFEIM recommends an approach to accredit amino acid chromatography. Validation parameters and recommendations are discussed in this specific framework.


Assuntos
Aminoácidos/análise , Cromatografia/normas , Testes Diagnósticos de Rotina/normas , Erros Inatos do Metabolismo/diagnóstico , Acreditação/normas , Adulto , Aminoácidos/sangue , Aminoácidos/líquido cefalorraquidiano , Aminoácidos/urina , Amniocentese/normas , Líquido Amniótico/química , Análise Química do Sangue/métodos , Análise Química do Sangue/normas , Coleta de Amostras Sanguíneas/normas , Criança , Cromatografia/métodos , Cromatografia Líquida/normas , Testes Diagnósticos de Rotina/métodos , Feminino , Humanos , Recém-Nascido , Erros Inatos do Metabolismo/sangue , Erros Inatos do Metabolismo/líquido cefalorraquidiano , Erros Inatos do Metabolismo/urina , Triagem Neonatal/métodos , Triagem Neonatal/normas , Fase Pré-Analítica , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/normas , Espectrometria de Massas em Tandem/normas , Urinálise/métodos , Urinálise/normas , Coleta de Urina/normas
11.
Eur J Endocrinol ; 183(6): 627-636, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33107432

RESUMO

Objective: To evaluate clinical characteristics of patients with central congenital hypothyroidism (CH), detected in the Dutch neonatal screening program. This included patients with isolated central CH but the majority have multiple pituitary hormone deficiencies (MPHD). Design: Nationwide, cross-sectional study. Methods: Data was collected on clinical characteristics, endocrine tests and neuroimaging of central CH patients, detected by the Dutch neonatal screening and born between 1 January 1995 and 1 January 2015. Height and pubertal status were assessed during a study visit. Isolated central CH patients without a confirmed genetic diagnosis were offered genetic (re-)testing. Results: During the 20-year period 154 central CH patients were detected (incidence of permanent central CH 1:25 642). After excluding deceased (15), severe syndromic (7) and transient patients (6), 92 of 126 eligible patients were included (57 MPHD; 79% male). Sixty-one patients (50 MPHD) had been hospitalized before screening results were reported, but central CH was diagnosed on clinical grounds in only three of them (5%). MRI abnormalities consistent with pituitary stalk interruption syndrome were seen in 50 (93%) MPHD patients. Among isolated central CH patients, 27 (84%) had an IGSF1, TBL1X or IRS4 gene variant (53, 16 and 16%, respectively). Conclusion: Many patients with central CH have neonatal health problems, especially MPHD patients. Despite hospital admission of two-thirds of patients, almost none were diagnosed clinically, but only after the notification of an abnormal screening result was received. This indicates that central CH, especially if isolated, is an easily missed clinical diagnosis.


Assuntos
Hipotireoidismo Congênito/diagnóstico , Hipopituitarismo/epidemiologia , Triagem Neonatal , Hormônios Hipofisários/deficiência , Adolescente , Criança , Pré-Escolar , Hipotireoidismo Congênito/complicações , Hipotireoidismo Congênito/patologia , Estudos Transversais , Erros de Diagnóstico , Feminino , Humanos , Hipopituitarismo/congênito , Incidência , Lactente , Recém-Nascido , Masculino , Países Baixos/epidemiologia , Adulto Jovem
12.
Orphanet J Rare Dis ; 15(1): 306, 2020 10 28.
Artigo em Inglês | MEDLINE | ID: mdl-33115512

RESUMO

We describe a 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2. Since propionic acidemia was diagnosed, the patient has followed the recommended diet for this inborn error of metabolism. Although propionic acidemia patients are at a high risk of suffering metabolic crises, frequently associated with permanent clinical complications, psychomotor development of this patient was normal. The SARS-CoV-2 infection (at about 1 year of age) caused the patient's first metabolic crisis. However, his clinical course was in keeping with a mild clinical form of COVID-19, and he recovered without experiencing severe clinical consequences. We describe this patient in order to improve the knowledge about follow up of PA patients identified by newborn screening and to increase the limited number of reports of SARS-CoV-2 infection in children with comorbidities, especially inborn errors of metabolism.


Assuntos
Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico , Triagem Neonatal/métodos , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico , Acidemia Propiônica/complicações , Acidemia Propiônica/diagnóstico , Análise Química do Sangue , Técnicas de Laboratório Clínico , Humanos , Lactente , Recém-Nascido , Masculino , Pandemias , Prognóstico , Acidemia Propiônica/dietoterapia , Radiografia Torácica/métodos , Doenças Raras , Medição de Risco , Índice de Gravidade de Doença , Resultado do Tratamento
14.
J Med Case Rep ; 14(1): 186, 2020 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-33023635

RESUMO

INTRODUCTION: A novel coronavirus named severe acute respiratory syndrome coronavirus 2, was first reported in Wuhan, China, in December 2019. The virus, known as COVID-19, is recognized as a potentially life-threatening disease by causing severe respiratory disease. Since this virus has not previously been detected in humans, there is a paucity of information regarding its effects on humans. In addition, only limited or no information exists about its impact during pregnancy. CASE PRESENTATION: In the present case study, we report the death of a neonate born to a 32-year-old mother with coronavirus disease 2019 in Ilam, Iran, with Kurdish ethnicity. We report the infection and death of a neonate in Iran with a chest X-ray (CXR) marked abnormality 2 hours after birth demonstrating coronavirus disease 2019 disease. The neonate was born by elective cesarean section, the fetal health was assessed using fetal heart rate and a non-stress test before the birth, and there was no evidence of fetal distress. All the above-mentioned facts and radiographic abnormalities suggested that coronavirus disease 2019 is involved. CONCLUSIONS: In this case study, we report the death of a neonate born to a mother with coronavirus disease 2019, 11 hours after birth. There is a paucity of data on the vertical transmission and the adverse maternal-fetal consequences of this disease, so vertical transmission from mother to child remains to be confirmed.


Assuntos
Betacoronavirus/isolamento & purificação , Infecções por Coronavirus , Cuidados Críticos/métodos , Doenças do Recém-Nascido , Pandemias , Pneumonia Viral , Complicações Infecciosas na Gravidez , Adulto , Cesárea/métodos , Deterioração Clínica , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/fisiopatologia , Infecções por Coronavirus/terapia , Infecções por Coronavirus/transmissão , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/fisiopatologia , Doenças do Recém-Nascido/terapia , Transmissão Vertical de Doença Infecciosa , Irã (Geográfico) , Triagem Neonatal/métodos , Morte Perinatal , Pneumonia Viral/diagnóstico , Pneumonia Viral/fisiopatologia , Pneumonia Viral/terapia , Pneumonia Viral/transmissão , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/fisiopatologia , Complicações Infecciosas na Gravidez/terapia , Respiração Artificial/métodos
15.
Ann Biol Clin (Paris) ; 78(5): 537-546, 2020 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-32933890

RESUMO

Biochemical diagnosis of hereditary metabolic diseases requires the detection and simultaneous identification of a large number of compounds, hence the interest in metabolic profiles. Acylcarnitine profile allows the identification and quantification of more than thirty compounds. As part of the accreditation process for medical biology examinations according to standard NF EN ISO 15189, the group from SFEIM recommends an approach to accredit acylcarnitine profile. Validation parameters and recommendations are discussed in this specific framework.


Assuntos
Carnitina/análogos & derivados , Serviços de Laboratório Clínico/normas , Testes Diagnósticos de Rotina/normas , Erros Inatos do Metabolismo/diagnóstico , Acreditação , Adulto , Amniocentese/métodos , Amniocentese/normas , Líquido Amniótico/química , Análise Química do Sangue/métodos , Análise Química do Sangue/normas , Coleta de Amostras Sanguíneas/métodos , Coleta de Amostras Sanguíneas/normas , Carnitina/análise , Carnitina/sangue , Carnitina/urina , Criança , Cromatografia em Papel/normas , Feminino , Humanos , Recém-Nascido , Masculino , Erros Inatos do Metabolismo/sangue , Erros Inatos do Metabolismo/urina , Triagem Neonatal/métodos , Triagem Neonatal/normas , Fase Pré-Analítica/métodos , Fase Pré-Analítica/normas , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/normas , Urinálise/métodos , Urinálise/normas , Coleta de Urina/métodos , Coleta de Urina/normas
16.
Am J Perinatol ; 37(13): 1310-1316, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32882743

RESUMO

OBJECTIVE: The novel virus known as severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) has led to a terrifying pandemic. The range of illness severity among children is variable. This study aims to assess the characteristics of newborns born to SARS-CoV-2-positive women compared with those mothers who tested negative. STUDY DESIGN: This was a retrospective cohort study performed at Brookdale Hospital Medical Center in New York City from March to May 2020. Electronic medical records of mother-baby dyads were reviewed. RESULTS: Seventy-nine mothers tested for SARS-CoV-2 were included, out of which 18.98% of mothers tested SARS-CoV-2 positive. We found a significant association between symptoms and SARS-CoV-2 status. We observed a significant association between newborns of SARS-CoV-2 positive and SARS-CoV-2 negative mothers regarding skin-to-skin contact (p < 0.001). Both groups showed significant differences regarding isolation (p < 0.001). Interestingly, regarding SARS-CoV-2 infection in newborns, only one newborn tested SARS-CoV-2 positive and was unstable in the neonatal intensive care unit (NICU). With the multivariable logistic regression model, babies of SARS-CoV-2 positive mothers were three times as likely to have desaturations in comparison to newborns from negative mothers. Also, newborns of SARS-CoV-2-positive mothers were four times more likely to have poor feeding, compared with newborns of SARS-CoV-2-negative mothers. Finally, babies of SARS-CoV-2-positive mothers were ten times more likely to be symptomatic at the 2-week follow-up. CONCLUSION: SARS-CoV-2 has caused major morbidity and mortality worldwide. Neonates born to mothers with confirmed or suspected SARS-CoV-2 are most of the time asymptomatic. However, neonatal critical illness due to SARS-CoV-2 is still a possibility; thus, isolation precautions (such as avoiding skin-to-skin contact and direct breastfeeding) and vertical transmission should be studied thoroughly. In addition, testing these newborns by nasopharyngeal swab at least at 24 hours after birth and monitoring them for the development of symptoms for 14 days after birth is needed. KEY POINTS: · For SARS-CoV-2-positive mothers, reducing transmission of infection to newborns is crucial.. · Newborns of SARS-CoV-2-positive mothers are usually asymptomatic and may not be easily infected.. · Critical illness in the newborn may still happen, so monitoring is needed..


Assuntos
Betacoronavirus/isolamento & purificação , Técnicas de Laboratório Clínico , Infecções por Coronavirus , Transmissão Vertical de Doença Infecciosa , Pandemias , Pneumonia Viral , Complicações Infecciosas na Gravidez , Doenças Assintomáticas/epidemiologia , Técnicas de Laboratório Clínico/métodos , Técnicas de Laboratório Clínico/estatística & dados numéricos , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/prevenção & controle , Infecções por Coronavirus/transmissão , Feminino , Humanos , Recém-Nascido , Transmissão Vertical de Doença Infecciosa/prevenção & controle , Transmissão Vertical de Doença Infecciosa/estatística & dados numéricos , Terapia Intensiva Neonatal/estatística & dados numéricos , Masculino , Comportamento Materno , Monitorização Fisiológica/métodos , Triagem Neonatal/métodos , Cidade de Nova Iorque/epidemiologia , Oximetria/estatística & dados numéricos , Pandemias/prevenção & controle , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia , Pneumonia Viral/prevenção & controle , Pneumonia Viral/transmissão , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/prevenção & controle , Estudos Retrospectivos , Medição de Risco/métodos , Fatores de Risco
17.
Am J Perinatol ; 37(13): 1317-1323, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32892325

RESUMO

OBJECTIVE: The perinatal consequences of neonates born to severe acute respiratory syndrome-associated coronavirus-2 (SARS-CoV-2) infected mothers are uncertain. This study aimed to compare the differences in clinical manifestation, laboratory results, and outcomes of neonates born to mothers with or without coronavirus disease 2019 (COVID-19). STUDY DESIGN: A total of 48 neonates were admitted to Tongji Hospital and HuangShi Maternal and Child Healthcare Hospital from January 17 to March 4, 2020. The neonates were divided into three groups according to the mothers' conditions: neonates born to mothers with confirmed COVID-19, neonates born to mothers with clinically diagnosed COVID-19, and neonates born to mothers without COVID-19. The clinical data of mothers and infants in the three groups were collected, compared, and analyzed. RESULTS: The deliveries occurred in a negative pressure isolation room, and the neonates were separated from their mothers immediately after birth for further observation and treatment. None of the neonates showed any signs of fever, cough, dyspnea, or diarrhea. SARS-CoV-2 reverse transcriptase-polymerase chain reaction of the throat swab and feces samples from the neonates in all three groups was negative. No differences were detected in the whole blood cell, lymphocytes, platelet, and liver and renal function among the three groups. All mothers and their infants showed satisfactory outcomes, including a 28-week preterm infant. CONCLUSION: The clinical manifestations, radiological, and biochemical results did not show any difference between the three groups. No evidence of vertical transmission was found in this study whether the pregnant women developed coronavirus infection in the third (14 cases) or second trimester (1 case). KEY POINTS: · Characteristics of neonates born to mothers with and without COVID-19 have been compared.. · All the 48 cases presented in the study had good outcomes.. · A 28-week preterm born to COVID-19 mother presented to be clear of SARS-COV-2 infection..


Assuntos
Betacoronavirus/isolamento & purificação , Infecções por Coronavirus , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Triagem Neonatal/métodos , Pandemias , Pneumonia Viral , Complicações Infecciosas na Gravidez , Avaliação de Sintomas , Adulto , China/epidemiologia , Técnicas de Laboratório Clínico/métodos , Técnicas de Laboratório Clínico/estatística & dados numéricos , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/prevenção & controle , Infecções por Coronavirus/transmissão , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Transmissão Vertical de Doença Infecciosa/prevenção & controle , Masculino , Pandemias/prevenção & controle , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia , Pneumonia Viral/prevenção & controle , Pneumonia Viral/transmissão , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/prevenção & controle , Resultado da Gravidez , Trimestres da Gravidez , Avaliação de Sintomas/métodos , Avaliação de Sintomas/estatística & dados numéricos
20.
Obstet Gynecol ; 136(4): 756-764, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32925625

RESUMO

OBJECTIVE: To compare maternal and cord blood penicillin concentrations in women with and without obesity who are receiving intrapartum group B streptococcus (GBS) prophylaxis. METHODS: We performed a prospective cohort study of term women receiving intrapartum penicillin prophylaxis for GBS colonization (determined by antenatal rectovaginal culture). The following outcomes were compared between obese (body mass index [BMI] 35 or higher at delivery) and nonobese (BMI less than 30 at delivery) groups: penicillin concentration in maternal blood (after two penicillin doses) and umbilical cord blood, GBS rectovaginal colonization status on admission and after two completed doses, and neonatal GBS colonization (using a postnatal ear swab). Fifty-five women were needed to detect a 0.75 SD difference in cord blood penicillin concentrations. RESULTS: Fifty-five women were enrolled and had all specimens collected; 49 had complete data for analysis (obese n=25, nonobese n=24). There was no difference in the median maternal penicillin concentration between groups (obese 4.2 micrograms/mL vs nonobese 4.0 micrograms/mL, P=.58). There was, however, a 60% lower median cord blood penicillin concentration in the obese compared with the nonobese group (2.7 micrograms/mL vs 6.7 micrograms/mL, respectively, P<.01), with no significant difference in time from last penicillin dose to delivery (obese 2.9 hours vs nonobese 1.7 hours, P=.07). The difference in cord blood concentrations remained significant after adjustment for nulliparity, hypertensive disorders, and time from last penicillin dose to delivery. Only 59.6% of women tested positive for GBS by rectovaginal culture on admission (obese 60.9% vs nonobese 58.3%, P=.86). CONCLUSION: The median cord blood penicillin concentration was 60% lower in neonates born to women with obesity compared with those born to women without obesity. However, all concentrations exceeded the minimum inhibitory concentration. Maternal penicillin levels were not significantly different between groups. More than 40% of women who previously tested positive for GBS by antenatal culture tested negative for GBS on admission for delivery.


Assuntos
Sangue Fetal/química , Triagem Neonatal/métodos , Obesidade , Penicilinas , Complicações Infecciosas na Gravidez , Infecções Estreptocócicas , Streptococcus agalactiae/isolamento & purificação , Adulto , Antibacterianos/sangue , Antibacterianos/uso terapêutico , Antibioticoprofilaxia/métodos , Índice de Massa Corporal , Monitoramento de Medicamentos/métodos , Feminino , Humanos , Recém-Nascido , Masculino , Obesidade/sangue , Obesidade/complicações , Obesidade/diagnóstico , Avaliação de Processos e Resultados em Cuidados de Saúde , Penicilinas/sangue , Penicilinas/uso terapêutico , Gravidez , Complicações Infecciosas na Gravidez/sangue , Complicações Infecciosas na Gravidez/tratamento farmacológico , Reto/microbiologia , Infecções Estreptocócicas/sangue , Infecções Estreptocócicas/complicações , Infecções Estreptocócicas/tratamento farmacológico , Vagina/microbiologia
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