Dermoid of the nasopharynx causing neonatal respiratory distress.
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ABSTRACT:
SUBMITTER: Manica D
PROVIDER: S-EPMC4399178 | biostudies-other | 2013 Oct
REPOSITORIES: biostudies-other
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Project description:BackgroundThe most common neonatal tumor is neuroblastoma and adrenal gland is the most common site of involvement. 11-26% of this tumor is seen in the thorax of neonates. Due to a similar appearance of the mediastinal tumor with pneumonia, a high index of suspicion is necessary for early diagnosis of this disorder.Case reportA 17-day -old female and term neonate delivered by caesarian section was reported in the study. The mother had a normal pregnancy without any reported complications. The newborn admitted to a neonatal intensive care unit (NICU) in her hometown, because of respiratory distress, stridor, and tachypnea which was started from 7 days of life and due to lack of recovery and persistent respiratory symptoms, the patient referred to our hospital. In chest X-ray, opacity in the right upper lobe of the lung was seen. In barium study, a mass like lesion in the size of 35.34?mm adjacent to upper intra-thoracic esophagus with mild mass effect was observed and in CTS a posterior mediastinal mass with severe compression on the trachea and extension to the spinal canal was reported. Due to severe obstruction on the airway, the baby underwent emergency surgery and a mediastinal mass with adhesion and involvement of the ribs and spinal cord was resected. The final diagnosis of poorly differentiated neuroblastoma was confirmed by biopsy.ConclusionIn every neonate with persistent respiratory distress, stridor and abnormal chest X-ray, diagnosis of neonatal neuroblastoma should be considered.
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Project description:Background and objectiveNeonatal respiratory distress syndrome (RDS) due to pulmonary surfactant deficiency is heritable, but common variants do not fully explain disease heritability.MethodsUsing next-generation, pooled sequencing of race-stratified DNA samples from infants ?34 weeks' gestation with and without RDS (n = 513) and from a Missouri population-based cohort (n = 1066), we scanned all exons of 5 surfactant-associated genes and used in silico algorithms to identify functional mutations. We validated each mutation with an independent genotyping platform and compared race-stratified, collapsed frequencies of rare mutations by gene to investigate disease associations and estimate attributable risk.ResultsSingle ABCA3 mutations were overrepresented among European-descent RDS infants (14.3% of RDS vs 3.7% of non-RDS; P = .002) but were not statistically overrepresented among African-descent RDS infants (4.5% of RDS vs 1.5% of non-RDS; P = .23). In the Missouri population-based cohort, 3.6% of European-descent and 1.5% of African-descent infants carried a single ABCA3 mutation. We found no mutations among the RDS infants and no evidence of contribution to population-based disease burden for SFTPC, CHPT1, LPCAT1, or PCYT1B.ConclusionsIn contrast to lethal neonatal RDS resulting from homozygous or compound heterozygous ABCA3 mutations, single ABCA3 mutations are overrepresented among European-descent infants ?34 weeks' gestation with RDS and account for ~10.9% of the attributable risk among term and late preterm infants. Although ABCA3 mutations are individually rare, they are collectively common among European- and African-descent individuals in the general population.
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Project description:Neonatal respiratory distress (NRD) is common among infants with primary ciliary dyskinesia (PCD), but we do not know whether affected neonates receive a timely diagnosis. We used data from the international PCD cohort and assessed the proportion of patients with PCD who had a history of NRD and their age at diagnosis, stratifying by presence of laterality defects. First we analyzed data from all participants diagnosed after 2000, followed by individuals from a subgroup diagnosed using stricter criteria. Among the 1375 patients in the study, 45% had a history of NRD and 42% had laterality defects. Out of the 476 children with definite PCD diagnosis, 55% had a history of NRD and 50% had laterality defects. Overall, 30% of children with PCD were diagnosed during the first 12 months of life. This varied from 13% in those with situs solitus and no NRD, to 21% in those with situs solitus and NRD, 33% in those with situs anomalies but no NRD, and 52% in those with both situs anomalies and NRD. Our results suggest that we need to improve our knowledge of the neonatal presentation of infants with PCD and apply it so that these patients will receive appropriate care sooner.
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Project description:PurposeRespiratory distress is known as one of the leading causes of neonatal death. In recent decades, surfactant therapy has revolutionized respiratory failure. Since the implementation of the health system reform plan as well as the allocation of new financial resources for health system in Iran, the rate of irrational prescription has increased and prescription of surfactant for neonates, has raised unexpectedly, which is thought to be due to irrational prescriptions partly. The present study aimed to determine the rate of irrational prescription of surfactant for neonates with respiratory distress.MethodsThis research was a cross-sectional descriptive study, which was conducted retrospectively. In the current study, determining the rate of irrational prescription was done in terms of the surfactant prescription guideline. Finally, the medical data of 846 neonates who underwent surfactant therapy in Iran in 2018, were extracted from the information system of the Ministry of Health and the neonatal medical records.ResultsThe results show that drug selection index, dose index, and time index were irrational for 14.30%, 27.42%, and 1.06% of neonates, respectively. Moreover, the total index of drug prescription, which is a combination of the above-mentioned three components, was found to be irrational for 31.47% of neonates.ConclusionsThe results of the present study are considered as a warning to providers and decision makers in the field of neonatal health to reduce irrational prescriptions of surfactant for neonates. This study suggests the use of educational interventions in order to reduce irrational prescriptions due to drug selection as well as the use of computer alert approaches in order to reduce irrational prescriptions due to wrong dose.
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Project description:Increasing evidence has demonstrated that lung fluid absorption disorders might be an important cause of neonatal respiratory distress syndrome (RDS) by influencing gas exchange or surfactant function. The SCNN1A gene, which encodes the α-ENaC, might predispose infants to RDS. To explore whether the single-nucleotide polymorphisms (SNPs) of SCNN1A are associated with RDS, we conducted a case-control study to investigate the RDS-associated loci in Han Chinese infants. Seven target SNPs were selected from the SCNN1A gene and were genotyped using the improved multiplex ligase detection reaction (iMLDR). In the total sample, only rs4149570 was associated with NRDS; this association was further confirmed in logistic regression analysis after adjusting for birth weight, gestational age and sex. In the subgroup of infants whose gestational age was 37 weeks and older, in addition to rs4149570, rs7956915 also showed a significant association with RDS. Interestingly, these associations were only observed in term infants. No significant association was observed between the target SNPs and the risk of RDS in preterm infants. We report for the first time that the rs4149570 and rs7956915 polymorphisms of SCNN1A might play important roles in the susceptibility to RDS, particularly in term infants.
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Project description:To evaluate the role of erythrocyte complement receptor 1 ( ECR1 ) gene in the predisposition to respiratory distress syndrome (RDS), we studied 50 infants with RDS and 50 controls. Real-time polymerase chain reaction allelic discrimination analysis of A3650G (rs2274567) and genotyping of the alleles (HindIII) were performed. Allele L of HindIII restricted single nucleotide polymorphism (SNP) associated with the severity of RDS. Duration of oxygen and ventilation in genotypes AA and AG of A3650G SNP was longer than genotype GG (17.6 ± 19.4 and 8.6 ± 4.5 days, p = 0.01) and (8.9 ± 11.9 and 3.9 ± 3.53 days, p = 0.03), respectively. A3650G and HINDIII digested gene polymorphisms of ECR1 may be of little importance for RDS.
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Project description:Respiratory distress is one of the major causes of the high mortality rate in neonatal cloned animals. Although some therapeutic methods have been used to improve the survival of cloned neonatal animals, the mechanisms of their neonatal respiratory distress lacked thorough investigation. Pathological analyses including necropsy and histology were implemented to determine the precise disease phenotypes, by which not fully dilated lungs, alveolar collapse and thickened alveolar walls were detected in neonatal cloned cows dying of respiratory distress compared to naturally conceived neonatal cows. In addition, we compared mRNA expression profiles between the two groups and differentially expressed genes (DEGs) have been achieved. Based on DEGs, GO and KEGG pathway enrichment analyses were performed, which showed that processes and pathways associated with surfactant homeostasis were significantly enriched between the two groups (p < 0.05).
2019-10-14 | GSE88912 | GEO
Project description:Cleidocranial dysplasia (CCD; OMIM 119600) is a rare autosomal dominant skeletal dysplasia, which is mainly characterized by persistently open or delayed closure of fontanelle, patent skull sutures, abnormal clavicles, pectus excavatum, short stature, supernumerary teeth, and sinus and middle ear infections. It is caused by Runt-related transcription factor 2 (RUNX2; OMIM 600211) mutations. Herein, we present a rare case of CCD with neonatal respiratory distress, who had abnormal midfacial features and wide fontanelle. Also, pectus excavatum was noted. He was transferred to our department, administered standard medical treatment, and discharged after 4 weeks. Therefore, we recommend the early suspicion and identification of this rare inherited disease to adequate treatment.
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Project description:Multiple mutations of surfactant genes causing surfactant dysfunction have been described. Surfactant protein C (SP-C) deficiency is associated with variable clinical manifestations ranging from neonatal respiratory distress syndrome to lethal lung disease. We present an extremely low birth weight male infant with an unusual course of respiratory distress syndrome associated with two mutations in the SFTPC gene: C43-7G>A and 12T>A. He required mechanical ventilation for 26 days and was treated with 5 subsequent doses of surfactant with temporary and short-term efficacy. He was discharged at 37 weeks of postconceptional age without any respiratory support. During the first 16 months of life he developed five respiratory infections that did not require hospitalization. Conclusion. This mild course in our patient with two mutations is peculiar because the outcome in patients with a single SFTPC mutation is usually poor.
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Project description:BackgroundNeonatal respiratory distress syndrome (NRDS) is a critical disease in premature infants. Vitamin D plays an important role in promoting the development of fetal lung structure and the formation of pulmonary surfactants. This study aimed to investigate the correlation between the serum 25(OH)D3 level in the cord blood of premature infants and the prognosis of NRDS.MethodsThis retrospective study recruited 82 preterm infants (gestational age 28-36 weeks) diagnosed with NRDS as the NRDS group, and 82 non-NRDS preterm infants as the control group, respectively. The diagnostic efficiency of 25(OH)D3 on NRDS was revealed by receiver operating characteristics curve (ROC) analysis. Enzyme linked immunosorbent assay (ELISA) was performed to evaluate the 25(OH)D3 level in the serum of the cord blood in preterm neonates. The NRDS risk indicators were identified by the multivariate logistic regression analysis.ResultsCord blood 25(OH)D3 levels were significantly lower in NRDS preterm infants than control group infants. 25(OH)D3 levels in cord blood can be used to predict NRDS in preterm infants. In addition, 25(OH)D3 levels in cord blood were positively correlated with Apgar score (1 min/5 min) and negatively correlated with oxygen support/CPAP duration in preterm infants with NRDS. 25(OH)D3 in cord blood <57.69 nmol/L (24 ng/ml), gestational age <31 weeks, birth weight <1.86 kg, Apgar score (1 min) <7 and Apgar score (5 min) < 8 were independent risk factors for NRDS.Conclusion25(OH)D3 level is an independent risk factor for NRDS in preterm infants.
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