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2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(11): 1247-1249, 2020 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-33179231

RESUMO

OBJECTIVE: To explore the genetic basis for a child with neonatal severe hyperparathyroidism. METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing was carried out to screen potential mutations. Suspected mutation was verified by Sanger sequencing. RESULTS: The proband was found to carry compound heterozygous variants c.179G>A (p.Cys60Tyr) and c.1525G>A (p.Gly509Arg) of the CaSR gene. The c.179G>A variant was derived from her mother and was unreported previously. The c.1525G>A variant was derived from her father and known to be pathogenic. CONCLUSION: The compound heterozygous variants of c.179G>A and c.1525G>A of the CaSR gene probably underlie the disease in the patient. The results of genetic testing has enabled diagnosis and genetic counseling for her family.


Assuntos
Hiperparatireoidismo/diagnóstico , Hiperparatireoidismo/genética , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Feminino , Aconselhamento Genético , Testes Genéticos , Humanos , Recém-Nascido , Mutação , Linhagem , Receptores de Detecção de Cálcio/genética , Sequenciamento Completo do Exoma
4.
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
7.
Chest ; 158(1): e5-e7, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32654740
8.
Saudi Med J ; 41(7): 703-708, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32601637

RESUMO

OBJECTIVES: To determine the incidence of newborn screening (NBS) disorders and to study the key performance indicators of the program. METHODS: This retrospective single-center study enrolled all infants who underwent NBS from January 2012 to December 2017 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. We screened 17 NBS disorders. Blood samples were collected 24 hours after birth. If the initial result was positive, a second sample was collected. True positive cases were immediately referred for medical management. Data were extracted from laboratory computerized and non-computerized records using case report forms. RESULTS: During the study period, 56632 infants underwent NBS with a coverage rate of 100%. Thirty-eight cases were confirmed. The incidence of congenital hypothyroidism was 1:3775. The positive predictive value for the detection of congenital hypothyroidism was 11.8%. Propionic aciduria was the most common metabolic disorder, with an incidence of 1:14158. Very long-chain acyl CoA dehydrogenase deficiency and glutaric aciduria type 1 had an incidence of 1:18877 each. Phenylketonuria, biotinidase deficiency, maple syrup urine disease, and citrullinemia had an incidence of 1:28316 each. However, galactosemia and 3-methyl crotonyl carboxylase deficiency had the lowest incidence of 1:56632. CONCLUSION: The NBS coverage rate at our facility was 100%. Congenital hypothyroidism was the most frequently detected disorder with an incidence that matches worldwide figures. The incidence of other inherited disorders was consistent with regional figures.


Assuntos
Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/epidemiologia , Triagem Neonatal , Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/epidemiologia , Biomarcadores/sangue , Encefalopatias Metabólicas/diagnóstico , Encefalopatias Metabólicas/epidemiologia , Síndrome Congênita de Insuficiência da Medula Óssea/diagnóstico , Síndrome Congênita de Insuficiência da Medula Óssea/epidemiologia , Glutaril-CoA Desidrogenase/deficiência , Humanos , Hipotireoidismo/diagnóstico , Hipotireoidismo/epidemiologia , Incidência , Recém-Nascido , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/epidemiologia , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/epidemiologia , Doenças Musculares/diagnóstico , Doenças Musculares/epidemiologia , Valor Preditivo dos Testes , Acidemia Propiônica/diagnóstico , Acidemia Propiônica/epidemiologia , Estudos Retrospectivos , Arábia Saudita/epidemiologia , Fatores de Tempo
9.
J Perinatol ; 40(10): 1462-1469, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32632198

RESUMO

The COVID-19 pneumonia was firstly reported in Wuhan, China, in December 2019. The disease had a rapid spread all over the word becoming an international public health emergency. Limited data were available on COVID-19 positive neonates. We reviewed relevant literature to understand the clinical course of disease and transmission routes in affected neonates. The aim of the study was evaluating the clinical course and prognosis of SARS-CoV-2 positive neonates. Based on current literature, the hypothesis of vertical transmission of SARS-CoV-2, though conceivable, remains unproven. A research conducted on PubMed database from December 2019 to April 27, 2020 revealed that were reported 25 neonates affected by SARS-CoV-2. Main symptoms were fever, cough, or shortness of breath but often these neonates did not show other symptoms during length stay in hospital. No deaths occurred.


Assuntos
Betacoronavirus/isolamento & purificação , Infecções por Coronavirus , Doenças do Recém-Nascido , Transmissão Vertical de Doença Infecciosa/prevenção & controle , Pandemias , Pneumonia Viral , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/fisiopatologia , Infecções por Coronavirus/transmissão , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/fisiopatologia , Controle de Infecções , Pneumonia Viral/diagnóstico , Pneumonia Viral/fisiopatologia , Pneumonia Viral/transmissão
12.
Pediatr Rev ; 41(6): 276-282, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32482690

RESUMO

Neonates often have congenital lumps or sinuses. It is expected that pediatricians will distinguish those with important physiologic implications from those without. Accurate understanding of these lesions is important for the practitioner to avoid unnecessary tests and anxiety and to ensure that seemingly benign lesions with important implications are addressed in a timely manner. This review aims to clarify the consequences of some lesions that can easily be misinterpreted, offering guidance in the initial management of patients with congenital lumps or sinuses. We address several lesions that can easily be misconstrued, including wattles, preauricular lesions, sacral sinuses, second branchial cleft anomalies, torticollis, and dermoid cysts.


Assuntos
Região Branquial/anormalidades , Cisto Dermoide/diagnóstico , Doenças do Recém-Nascido/diagnóstico , Sacro/patologia , Anormalidades da Pele/diagnóstico , Torcicolo/congênito , Humanos , Recém-Nascido , Torcicolo/diagnóstico
14.
Am J Perinatol ; 37(8): 869-872, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32359227

RESUMO

OBJECTIVE: To date, no information on late-onset infection in newborns to mother with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) contracted in pregnancy are available. This study aimed to evaluate postdischarge SARS-CoV-2 status of newborns to mothers with COVID-19 in pregnancy that, at birth, were negative to SARS-CoV-2. STUDY DESIGN: This is an observational study of neonates born to mothers with coronavirus disease 2019 (COVID-19). RESULTS: Seven pregnant women with documented SARS-CoV-2 infection have been evaluated in our institution. One woman had a spontaneous abortion at 8 weeks of gestational age, four women recovered and are still in follow-up, and two women delivered. Two newborns were enrolled in the study. At birth and 3 days of life, newborns were negative to SARS-CoV-2. At 2-week follow-up, one newborn tested positive although asymptomatic. CONCLUSION: Our findings highlight the importance of follow-up of newborns to mothers with COVID-19 in pregnancy, since they remain at risk of contracting the infection in the early period of life and long-term consequences are still unknown. KEY POINTS: · Newborns to mothers with coronavirus disease 2019 (COVID-19) in pregnancy can acquire the infection later after birth.. · Newborns to mothers with COVID-19 in pregnancy need a long-term follow-up, even if they tested negative at birth.. · Specific guidelines for the long-term follow-up of newborns to mothers with COVID-19 in pregnancy are needed..


Assuntos
Betacoronavirus/isolamento & purificação , Infecções por Coronavirus , Doenças do Recém-Nascido , Pandemias , Pneumonia Viral , Cuidado Pós-Natal , Complicações Infecciosas na Gravidez , Aborto Espontâneo/etiologia , Assistência ao Convalescente/normas , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/fisiopatologia , Parto Obstétrico/métodos , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/fisiopatologia , Doenças do Recém-Nascido/virologia , Transmissão Vertical de Doença Infecciosa , Itália/epidemiologia , Masculino , Determinação de Necessidades de Cuidados de Saúde , Avaliação de Processos e Resultados em Cuidados de Saúde , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia , Pneumonia Viral/fisiopatologia , Cuidado Pós-Natal/métodos , Cuidado Pós-Natal/normas , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/fisiopatologia , Complicações Infecciosas na Gravidez/virologia , Fatores de Tempo
18.
Med. clín (Ed. impr.) ; 154(8): 289-294, abr. 2020. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-193198

RESUMO

ANTECEDENTES Y OBJETIVO: El tratamiento con hormona de crecimiento recombinante humana (rhGH) en niños nacidos pequeños para la edad gestacional (PEG) se ha mostrado eficaz, aunque con variedad en la respuesta. Se evalúa la talla adulta y los factores que determinan la respuesta a largo plazo. PACIENTES Y MÉTODOS: Estudio retrospectivo de 80 pacientes PEG tratados con rhGH por baja talla y seguidos hasta la talla adulta (23 varones). RESULTADOS: El grupo que inició el tratamiento antes de la pubertad alcanzó mayor talla adulta (−1,4±0,6 vs. −1,9±0,6 púberes). Existió mayor ganancia de talla en los tratados durante ≥ 2 años en prepubertad (1,32±0,5 SDE). Los factores asociados con una mayor ganancia de talla fueron: a) la menor talla, peso e IMC al inicio; b) la menor edad cronológica, ósea y el menor nivel de IGF-I iniciales; c) la mayor distancia con la talla genética; d) la mayor velocidad de crecimiento el primer y el segundo año y la mayor ganancia de talla previa y durante la pubertad. El porcentaje de buena respuesta en el primer año varió entre el 46,6 y el 81,6% en función del criterio empleado. El incremento de la velocidad de crecimiento≥3cm/año es el que mejor se relaciona con buena respuesta a largo plazo. CONCLUSIONES: El tratamiento con rhGH en niños PEG produce un incremento variable de talla adulta, que les permite alcanzar su rango genético. Los mejores resultados se producen en el grupo con mayor número de años en tratamiento en la prepubertad y no dependen de la respuesta hipofisaria de GH


BACKGROUND AND OBJECTIVE: Recombinant human growth hormone (rhGH) treatment in small for gestational age (SGA) children has been effective, although there is significant variability in the response. Adult height and the factors that determine the long-term response are evaluated. Patients and DESIGN: A retrospective study of 80 patients born SGA with short stature treated with rhGH and followed until adult height (23 males). RESULTS: The group starting treatment pre-puberty reached a higher Adult height (−1.4±0.6 vs. −1.9±.6 in pubertal children), the highest final height gain was achieved in those treated for at least 2years prepuberty (1.32±.5 SDS). Factors associated with greater adult height gain were: a) less height, weight and BMI at start of treatment, b) lower chronological and bone age with lower IGF-I before treatment, c) greater distance to target height, d) higher growth velocity the first and second year of treatment, and higher height gain before and during puberty. The percentage of patients with good response in the first year ranged from 46.6% to 81.6% depending on the criteria. Growth velocity increase ≥3cm/ first year correlated best with long-term response. CONCLUSION: rhGH treatment in children born SGA produced a varying increase in adult height that allowed them to reach their adult height. The best results occurred in the prepubertal group and did not depend on pituitary GH response


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Recém-Nascido Pequeno para a Idade Gestacional/crescimento & desenvolvimento , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Resultado do Tratamento , Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento/administração & dosagem , Estudos Retrospectivos , Transtornos do Crescimento/etiologia , Índice de Massa Corporal , Peso-Estatura/genética
19.
Transfusion ; 60(5): 1069-1077, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32315090

RESUMO

BACKGROUND: Phlebotomy is among the main determinants of anemia of prematurity. Blood sparing policies endorsed umbilical cord blood (here called placental) as an alternative source for laboratory testing. Little is known on the suitability of placental blood to evaluate neonatal hemostasis of newborn infants. We aimed to compare the hemostatic profile of paired placental and infant venous blood, by means of prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, antithrombin, protein C, thromboelastography (TEG) and thrombin generation assay (TGA). STUDY DESIGN: This was an observational single-center study. METHODS: We collected at birth venous citrated blood from both placental and infant venous source and performed PT, APTT, fibrinogen, antithrombin, protein C, TEG (reaction time-R; kinetics-K alpha angle-α, maximum amplitude-MA and lysis at 30 minutes-LY30), and TGA (endogenous thrombin potential-ETP). RESULTS: We enrolled 60 neonates with a median gestational age (range) of 37 weeks (28+1 -41) and birth-weight 2417 g (950-4170). Based on TEG and TGA, placental blood showed a procoagulant imbalance as indicated by lower median R (4.0 vs. 6.1 min; p < 0.001) and K (1.3 vs. 2.2 min; p < 0.001); higher α-angle (69.7 vs. 57.4°; p < 0.001) and ETP (1260 vs. 1078; p = 0.002) than those observed for infant venous blood. PT and APTT did not differ significantly between the two groups. CONCLUSIONS: While placental and neonatal blood samples are equally suitable to measure the standard coagulation tests PT and APTT, placental blood leads to a procoagulant imbalance when testing is performed with TEG or TGA. These effects should be considered when interpreting results stemming from investigation of neonatal hemostasis.


Assuntos
Transtornos da Coagulação Sanguínea/diagnóstico , Hemostasia/fisiologia , Doenças do Recém-Nascido/diagnóstico , Triagem Neonatal/métodos , Placenta/irrigação sanguínea , Transtornos da Coagulação Sanguínea/sangue , Testes de Coagulação Sanguínea , Feminino , Sangue Fetal/fisiologia , Fibrinogênio/análise , Idade Gestacional , Humanos , Recém-Nascido , Doenças do Recém-Nascido/sangue , Masculino , Tempo de Tromboplastina Parcial , Parto/sangue , Flebotomia/métodos , Flebotomia/normas , Gravidez , Tempo de Protrombina , Reprodutibilidade dos Testes , Trombina/análise
20.
J Clin Endocrinol Metab ; 105(3)2020 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-32126138

RESUMO

PURPOSE: Neonatal macrosomia is a known complication of maternal obesity and gestational diabetes, and it is a risk factor for obesity and diabetes in offspring. Amino acids and acylcarnitines are biomarkers for obesity in children and adults. These analytes, which are also routinely obtained on the newborn screen, have not been well-characterized in macrosomic newborns. The impact of macrosomia on rates of false-positive results in the newborn screen has also not been well-studied. We test the hypothesis that macrosomia is an interfering factor for amino acids and/or acylcarnitines on the newborn screen. METHODS: Newborn screening analytes determined by tandem mass spectroscopy were obtained from the Colorado Department of Public Health and Environment archives (2016-2018). This included metabolite concentrations obtained at 24-72 hours of life from newborns with birth weight 2500 to 3999 g (nonmacrosomic, n = 131 896) versus 4000 to 8000 g (macrosomic, n = 7806). Mother/infant phenotypic data were limited to information provided on the newborn screening dried blood spot card. Data were analyzed using Student t-test and chi-squared analysis. RESULTS: Macrosomic newborns had elevations in C2, C3, dicarboxylic, and long-chain acylcarnitines (specifically C16 and C18 species). C3 and C18:1 were 2 to 3 times more likely to be above predetermined state cutoffs in macrosomic versus nonmacrosomic newborns (both male and female). MAIN CONCLUSIONS: Macrosomia is an interfering factor for the analytes C3 and C18:1, leading to higher risk of false-positive results for methylmalonic/propionic acidemia and carnitine palmitoyl transferase type 2 deficiency, respectively. Analyte patterns found in macrosomic neonates correspond with similar analyte patterns in obese children and adults.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Carnitina O-Palmitoiltransferase/deficiência , Macrossomia Fetal/sangue , Doenças do Recém-Nascido/diagnóstico , Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal/métodos , Adulto , Carnitina/análogos & derivados , Carnitina/sangue , Colorado , Reações Falso-Positivas , Feminino , Macrossomia Fetal/complicações , Humanos , Recém-Nascido , Masculino , Obesidade Pediátrica/diagnóstico , Gravidez , Acidemia Propiônica/diagnóstico , Espectrometria de Massas em Tandem
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