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Objetivo: Identificar las patologías o condiciones neonatales que influyen en la prolongación de la estancia hospitalaria en una Unidad de Cuidados Intensivos Neonatales (UCIN). Materiales y métodos: Se realizó un estudio observacional, retrospectivo, de casos y controles; en neonatos hospitalizados de la UCIN, durante el periodo 2015 - 2019, considerando sus diagnósticos perinatales y posnatales como factores a evaluar, así como la estancia hospitalaria. Se dividieron dos grupos: casos (estancia prolongada) y controles (estancia no prolongada). Los datos recolectados fueron procesados en el programa SPSS v.23 obteniendo el OR y la Regresión Logística Binaria. Resultados: Se incluyeron 361 neonatos (91 casos y 270 controles), encontrándose significancia en factores perinatales (p<0.05): Peso al nacer (1000g a <1500g, ORa 8.2: IC3.1 - 21.2) y edad gestacional (28 a 31 sem., ORa 18.6: IC4.8-71.4; 32-33 sem, ORa 8.1: IC3.5 - 18.4); y factores posnatales (p<0.05): Síndrome de distrés respiratorio (ORa 10.3:IC 4.8-22.2), Hipertensión pulmonar persistente (OR 32.2:IC 1.8-559.0), sepsis (ORa 7.1: IC 3.1-16.0), Malnutrición neonatal (ORa 10.2:IC 4.7-22.1) y anemia del prematuro (ORa 8.3:IC 2.4-28.1). No alcanzaron significancia: asfixia, taquipnea transitoria del recién nacido, neumonía, neumotórax, displasia broncopulmonar, síndrome de aspiración meconial, conducto arterioso persistente, cardiopatía congénita, hiperbilirrubinemia, hipoglicemia, enterocolitis necrotizante y apnea del prematuro. Conclusiones: El peso al nacer, edad gestacional, Síndrome de distrés respiratorio, Hipertensión pulmonar persistente, sepsis, malnutrición neonatal y anemia del prematuro son factores de riesgo para estancia hospitalaria prolongada.
Objective: Identify neonatal pathologies or conditions that influence the prolongation of hospital stay in a Neonatal Intensive Care Unit (NICU). Materials and methods: An observational, retrospective, case-control study was carried out; in neonates hospitalized in the NICU, during the period 2015-2019, considering their perinatal and postnatal diagnoses as factors to be evaluated, as well as hospital stay. Two groups were divided: cases (prolonged stay) and controls (non-prolonged stay). The collected data were processed in the SPSS v.23 program, obtaining the OR and the Binary Logistic Regression. Results: 361 neonates (91 cases and 270 controls) were included, finding significance in perinatal factors (p<0.05): Birth weight (1000g to <1500g, ORa 8.2: CI3.1 - 21.2) and gestational age (28 to 31 weeks , ORa 18.6: CI4.8-71.4; 32-33 weeks, ORa 8.1: CI3.5 - 18.4); and postnatal factors (p<0.05): RDS (ORa 10.3: CI 4.8-22.2), PHT (OR 32.2: CI 1.8-559.0), sepsis (ORa 7.1: CI 3.1-16.0), Neonatal malnutrition (ORa 10.2: CI 4.7 -22.1) and anemia of prematurity (aOR 8.3: CI 2.4-28.1). The following did not reach significance: asphyxia, transient tachypnea of the newborn, pneumonia, pneumothorax, bronchopulmonary dysplasia, meconium aspiration syndrome, patent ductus arteriosus, congenital heart disease, hyperbilirubinemia, hypoglycemia, necrotizing enterocolitis, and apnea of prematurity. Conclusions: Birth weight, gestational age, RDS, PHPT, sepsis, neonatal malnutrition and anemia of prematurity are risk factors for prolonged hospital stay.
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RESUMEN Streptococcus agalactiae (SGB) produce infecciones invasivas en neonatos siendo la transmisión materna la más frecuente. Estudios epidemiológicos utilizan técnicas moleculares que evalúan la diversidad genética, entre ellas la de amplificación aleatoria de ADN polimórfico (RAPD) que resulta ser accesible, sensible y utiliza cebadores arbitrarios para amplificar segmentos polimórficos de ADN mediante PCR. El objetivo fue determinar la relación clonal entre aislamientos de SGB recuperados de madres y sus respectivos recién nacidos. Se estudiaron por RAPD cuatro parejas de aislamientos de SGB obtenidos de hisopados vagino-rectales de madres y de hemocultivos de sus neonatos. Se utilizaron los cebadores OPS11, OPB17 y OPB18 para seleccionar uno con capacidad de discriminar entre cepas no relacionadas genéticamente. Se utilizó la fórmula de Hunter-Gaston que establece el índice de discriminación (D), cuando D>0,90 se considera que los aislamientos pertenecen a clones diferentes. Los perfiles de amplificación para los ocho aislamientos, empleando independientemente cada cebador, permitieron calcular un D=1 para OPS11, y D=0,84 para OPB17 y OPB18. Por lo tanto, OPS11 fue seleccionado para el estudio de la relación clonal de los aislamientos, encontrándose perfiles de amplificación similares por RAPD para cada par de cepas madre-recién nacido. Se observaron diferentes perfiles de amplificación entre los pares de cepas madre-recién nacido, lo que revela la discriminación entre cepas no relacionadas, resultados confirmados por electroforesis en campo pulsante (PFGE). Estos resultados indican transmisión vertical para cada caso estudiado y robustez del cebador OPS11. Se encontraron condiciones apropiadas del ensayo de RAPD, lo que es útil para estudios epidemiológicos.
ABSTRACT Streptococcus agalactiae (GBS) causes invasive infections in newborns, being the most frequent the maternal transmission. Epidemiological studies use molecular techniques that assess genetic diversity, including random amplification of polymorphic DNA (RAPD) that is found to be accessible, sensitive and uses arbitrary primers to amplify polymorphic segments of DNA by PCR. The objective was to determine the clonal relationship between GBS strains recovered from mothers and their respective newborns. Four pairs of GBS isolates obtained from vaginal-rectal swabs of mothers and blood cultures of their newborns were studied with RAPD. Primers OPS11, OPB17 and OPB18 were used to select one with the ability to discriminate between non-genetically related strains. The Hunter-Gaston formula that establishes the discrimination index (D) was used; when D>0.90, it is considered that the isolates belong to different clones. The amplification profiles for the eight isolates, using each primer independently, allowed to calculate a D=1 for OPS11, and D=0.84 for OPB17 and OPB18. Therefore, OPS11 was selected for the study of the clonal relationship of the isolates, and similar amplification profiles were found by RAPD for each mother-newborn pair of GBS isolates. Different amplification profiles were observed between pairs of mother-newborn strains, which reveals the discrimination between unrelated strains, confirmed by pulsating field electrophoresis (PFGE). These results indicated vertical transmission for each studied case and robustness of the OPS11 primer. Appropriate conditions of the RAPD trial were found, which is useful for epidemiological studies.
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Objective:To study the incidence, clinical features and genetic mutation profiles of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) using screening strategy.Methods:From September 2015 to September 2020, neonates in Xuzhou area were prospectively screened for genetic metabolic diseases using tandem mass spectrometry. Suspected infants were further confirmed using urinary organic acid test and SLC25A13 gene mutation analysis. The clinical manifestations, biochemical and gene mutation results, treatment and prognosis of the confirmed cases were analyzed.Results:A total of 468,494 live-birth newborns were screened with 112 cases suspected and 95 cases received urinary organic acid test and SLC25A13 gene mutation analysis. 13 cases of NICCD were diagnosed with a prevalence of 1/36,038. Most confirmed cases presented with delayed disappearance of neonatal jaundice, feeding difficulties and poor weight gain. Biochemical changes included increased bile acid, abnormal liver enzymes, increased alpha-fetoprotein, hypoglycemia, decreased hemoglobin, abnormal coagulation function and increased blood ammonia. Tandem mass spectrometry showed increased citrulline, methionine, arginine, tyrosine and phenylalanine, and in some cases with slightly increased acylcarnitine. Urine organic acid analysis mainly showed increased 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvate. All confirmed cases received genetic mutation tests and a total of 13 mutation loci were detected, including c.852_855delTATG, c.511dupG, c.1638_1660dup, IVS16ins3kb, c.1078C>T, c. 615+5G>A, c.742G>A, c.44G>A, c.1311+1G>A, c.1399C>T, c.889G>T, c.1177+1G>A, c.1841+3_1841+4del, among which, c.852_855delTATG was the most common one. A total of 5 novel mutation loci were discovered in this study with c.1841+3_1841+4del, c.511dupG and c.889G>T predicted as pathogenic variants. Special formula of lactose-free and fortified medium-chain triglyceride (MCT) were used in confirmed cases and most of the symptoms were relieved within 1 year and abnormal indicators significantly improved.Conclusions:The prevalence of NICCD in Xuzhou was 1/36,038. c.852_855delTATG mutation is the most frequent one. Five novel mutation loci are discovered, expanding the SLC25A13 gene mutation spectrum. Most infants with NICCD have a good prognosis, requiring early diagnosis, treatment and life-long follow-up.
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Objective:To study the clinical features and genetic characteristics of isobutyryl-CoA dehydrogenase deficiency (IBDD) of neonates in Xuzhou area.Methods:From October 2016 to October 2021, neonates diagnosed with IBDD using tandem mass spectrometry in Xuzhou area were retrospectively studied. Their clinical phenotypes and genotypes, clinical diagnosis, treatment and follow-up were analyzed.Results:A total of 510 057 neonates were screened and 10 cases of IBDD were diagnosed. The 10 IBDD cases showed increased butyryl carnitine (C4), C4/C2 and C4/C3 during screening and follow-up tests. One case had transient elevated transaminase and one case showed delayed language development. The other 8 cases were otherwise normal. A total of 16 mutation loci of acyl-CoA dehydrogenase 8 (ACAD8) gene were found, including 10 unreported loci: c.567+8C>T, c.213G>T, c.553C>T, c.1190T>C, c.1060G>A, c.494G>A, c.771C>A, c.962A>T, c.715A>G and c.731G>A. Genetic mutations were found in Exon 3, Exon 4, Exon 5, Intron 5, Exon 7, Exon 9 and Exon 10. The hot spots of mutations were c.1176G>T, c. 286G>A and c.1000C>T.Conclusions:IBDD is a rare disease without specific clinical manifestations. Neonatal metabolic disease screening combined with urinary organic acid tests and genetic sequencing can be used for early detection and diagnosis of IBDD. No serious adverse outcome is found in IBDD patients during short-term follow-up, however, long-term follow-up is recommended.
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Abstract@#Neonatal disease screening is a major tool for prevention of birth defects, and monitoring and evaluation of neonatal disease screening facilitates the improvements in screening quality and efficiency. A strict quality control of screening, diagnosis, treatment and follow-up of neonatal diseases is performed in Zhejiang Provincial Center for Quality Control of Neonatal Disease Screening. In this study, the data pertaining to screening of neonatal inherited metabolic diseases, hearing loss and congenital heart diseases were collected in Zhejiang Province from 2018 to 2020, and the screening rate, recall rate of suspected screening-positive neonates, and detection rate of diseases were calculated to assess the quality of neonatal disease screening. The screening rate and recall rate of neonatal inherited metabolic diseases, hearing loss and congenital heart diseases were high in Zhejiang Province, and the detection of screened diseases was stable, indicating a high overall quality of neonatal disease screening. Increasing the impact of neonatal disease screening and consolidating the screening achievements should be given a high priority during the future quality control of neonatal disease screening in Zhejiang Province.
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Objective To retrospectively analyze the results of neonatal diseases screening in Yichang from 2017 to 2019, understand the incidence and recall of the diseases, and explore the management mode of neonatal disease screening suitable for this region. Methods The subjects were newborns who were delivered in Yichang midwifery institutions from 2017 to 2019 and were screened for neonatal diseases. Heel blood of the newborns was collected for the screening of neonatal diseases, including congenital hypothyroidism (CH), phenylketonuria (PKU), G6PD deficiency, congenital adrenal hyperplasia (CAH) and thalassemia. Those newborns with positive initial screening were recalled for reexamination and confirmation. The recall rates of different diseases were compared by Chi-square test. Results There were 85 891 live births in Yichang area from 2017 to 2019, and 84 063 cases were screened for neonatal diseases, with a screening rate of 97.87%. A total of 6 043 cases were positive in the initial screening, of which 5,047 cases were recalled, with a recall rate of 83.52%. The recall rates of the traditional two diseases (CH and PKU) and the new three diseases (CAH, G6PD deficiency and thalassemia) were significantly different ( χ2= 197.93, P＜0.01). A total of 501 cases were diagnosed. The incidence rate of CH was 1/1,911, the incidence rate of PKU was 1/12 009, the incidence rate of CAH was 1/28 021, the incidence rate of G6PD deficiency was 1/1 121, and the incidence rate of thalassemia was 1/226. Conclusions The neonatal disease screening rate increased year by year in Yichang, but the recall rate of suspicious positive initial screenings decreased. It is necessary to explore a more suitable management mode for the five neonatal disease screenings in this region, improve the recall rate of children with positive screening, reduce the incidence of disabled children, and improve the quality of the birth population.
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Inherited metabolic disorders, also known as congenital metabolic diseases, refer to a group of diseases that cause a series of clinical symptoms due to gene mutations, such as enzyme deficiency, dysfunction of cell membrane or receptor deficiency, resulting in biochemical metabolic disorders, accumulation of intermediate or bypass metabolites, or lack of final metabolites. Inherited metabolic disordersoften occur in childhood, progressively aggravating, irreversible nervous system damage, and even death. Tandem mass spectrometry (MS/MS) has been widely used in newborn screening abroad and in China. This technology not only expands the screening spectrum of newborn screening, but also improves the screening efficiency, specificity and sensitivity, which opens up a new field for disease screening. With deepening the understanding of the mechanism of inherited metabolic disorders and mass spectrometry technology, its clinical application becomes more significant in diseases screening and diagnosing.
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20 mg/L again.Children without treatment regulared exam for phe concentration level in blood and test for physical and mental capability development.Results Forty-eight children with PKU were diagnosed in 355 615 newborns who were collected from June 1999 to April 2005.The incidence rate of PKU was 1/7408,carriers with PKU gene was 1/48.There was no significant difference in physical and mental condition compared with that of normal children.Conclusions The treatment results for children with PKU is significant.It has good social and economic value.It is one of the important measures for reducing infant defect and improving population quality.
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Objective To explore the etiology, pathogenesis,clinical symptoms, diagnosis, treatment and outcome of congenital gastric muscular wall defects in newborns. Methods The clinical data and operative modes of 17 cases with congenital gastric muscular wall defects hospitalized during 1993～2003 were analyzed retrospectively. Results Among 17 patients who underwent operation, seven cases survived because tje range of lesion was small and the time of consultion wae early, and the cure rate was 41.1%(7/17). 10 cases died of the complications such as hematosepsis, shock, disseminated inravascular coagulation(DIC) and multiple organ failure. Conclusion Early diagnosis, prompt operation, and the treatment of broad spectrum antibiotics, countershock and nutritional support were the key points to increase the cure rate.