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Neonatal Metabolic Acidosis in the Neonatal Intensive Care Unit: What Are the Genetic Causes?

ABSTRACT: Neonatal metabolic acidosis (NMA) is a common problem, particularly in critically ill patients in neonatal intensive care units (NICUs). Complex etiologies and atypical clinical signs make diagnosis difficult; thus, it is crucial to investigate the underlying causes of NMA rapidly and provide disorder-specific therapies. Our study aims to provide an overview of the genetic causes of NMA in patients from NICUs. We performed next-generation sequencing (NGS) on neonates with NMA from January 2016 to December 2019. Clinical features, genetic diagnoses, and their effects on clinical interventions were collected for analysis. In the 354 enrolled patients, 131 (37%) received genetic diagnoses; 95 (72.5%) of them were autosomal recessively inherited diseases. Two hundred and fifteen variants spanning 57 genes were classified as pathogenic (P) or likely pathogenic (LP) in 131 patients. The leading cause was metabolic disorders due to 35 genes found in 89 patients (68%). The other 42 NMA patients (32%) with 22 genes had malformations and renal, neuromuscular, and immune-hematological disorders. Seven genes (MMUT, MMACHC, CHD7, NPHS1, OTC, IVD, and PHOX2B) were noted in more than four patients, accounting for 48.9% (64/131) of the identified P/LP variants. Forty-six diagnosed patients with uncorrected NMA died or gave up. In conclusion, 37% of neonates with metabolic acidosis had genetic disorders. Next-generation sequencing should be considered when investigating the etiology of NMA in NICUs. Based on early molecular diagnoses, valuable treatment options can be provided for some genetic diseases to achieve better outcomes.

SUBMITTER: Ma H

PROVIDER: S-EPMC8558493 | biostudies-literature |

REPOSITORIES: biostudies-literature

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intensive care unit

Project description:intensive care unit Raw sequence reads

| PRJNA561526 | ENA

Metabolic Acidosis in Preterm Infants is Associated with a Longer Length of Stay in the Neonatal Intensive Care Unit.

Project description:IntroductionPreterm births account for disproportionately high healthcare costs, in large part due to expenses related to length of stay in the hospital neonatal intensive care unit (NICU). It is common for preterm infants to receive human milk fortifier (HMF) while in the NICU. Liquid HMF is available in both acidified and non-acidified formulations. A recent randomized clinical trial found that acidified HMF is associated with an increased incidence of metabolic acidosis, which may contribute to increased costs and longer NICU length of stay.ObjectiveThe present study is a secondary analysis of these data, seeking to determine whether additional factors contribute to metabolic acidosis, whether metabolic acidosis is associated with longer hospital length of stay, and whether these associations contribute to the burden of hospital costs.MethodsThe study sample consisted of 152 infants who were hospitalized in US NICUs. Multiple logistic regression was used to model the NICU length of stay. Data from the 2012 Healthcare Cost and Utilization Project (HCUP) Kids' Inpatient Database (KID) were used to calculate the average cost (charge) per day in a NICU. Costs (charges) were adjusted to $US, year 2018 values, using the health Consumer Price Index.ResultResults indicated that acidified HMF was a strong predictor of metabolic acidosis, more so than gestational age or birth weight. Furthermore, metabolic acidosis was associated with incremental NICU costs (charges) of $US19,002 ($US65,462) per infant and longer NICU LOS.ConclusionFuture studies should further investigate factors that contribute to NICU length of stay and associated costs of care.Trial registrationClinicalTrials.gov: NCT02307760.

| S-EPMC7426333 | biostudies-literature

Diarrhea in neonatal intensive care unit.

Project description:AIM:To investigate the frequency, etiology, and current management strategies for diarrhea in newborn. METHODS:Retrospective, nationwide study involving 5801 subjects observed in neonatal intensive care units during 3 years. The main anamnesis and demographic characteristics, etiology and characteristics of diarrhea, nutritional and therapeutic management, clinical outcomes were evaluated. RESULTS:Thirty-nine cases of diarrhea (36 acute, 3 chronic) were identified. The occurrence rate of diarrhea was 6.72 per 1000 hospitalized newborn. Etiology was defined in 29 of 39 newborn (74.3%): food allergy (20.5%), gastrointestinal infections (17.9%), antibiotic-associated diarrhea (12.8%), congenital defects of ion transport (5.1%), withdrawal syndrome (5.1%), Hirschsprung's disease (2.5%), parenteral diarrhea (2.5%), cystic fibrosis (2.5%), and metabolic disorders (2.5%). Three patients died due to complications related to diarrhea (7.7%). In 19 of 39 patients (48.7%), rehydration was performed exclusively by the enteral route. CONCLUSION:Diarrhea in neonates is a challenging clinical condition due to the possible heterogeneous etiologies and severe outcomes. Specific guidelines are advocated in order to optimize management of diarrhea in this particular setting.

| S-EPMC2880780 | biostudies-literature

Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit.

Project description:OBJECTIVE:Evaluate whether telemedicine can be used to perform dysmorphology and neurologic examinations in the neonatal intensive care unit (NICU) by determining the examination accuracy, limitations and optimized procedures. STUDY DESIGN:Prospective evaluation of NICU patients referred for subspecialty consultation for dysmorphic features (n=10) or encephalopathy (n=10). A physician at bedside (bedside clinician) performed an in-person examination that was viewed in real time by a remote physician (remote consultant). Standardized examinations were recorded and compared. Subsequently, a qualitative approach established technique adjustments and optimization procedures necessary to improve visualization. RESULT:Telemedicine examinations identified 81 of 87 (93%) dysmorphology examination abnormalities and 37 of 39 (92%) neurologic examination abnormalities. Optimization of remote consultant visualization required an active bedside clinician assisting in camera and patient adjustments. CONCLUSION:Telemedicine can be used to perform accurately many components of the dysmorphology or neurologic examinations in NICU patients, but physicians must be mindful of specific limitations.

| S-EPMC3943754 | biostudies-literature

Neonatal intensive care unit safety culture varies widely.

Project description:BACKGROUND:Variation in healthcare delivery and outcomes in neonatal intensive care units (NICUs) may be partly explained by differences in safety culture. OBJECTIVE:To describe NICU care giver assessments of safety culture, explore variability within and between NICUs on safety culture domains, and test for association with care giver characteristics. METHODS:NICU care givers in 12 hospitals were surveyed using the Safety Attitudes Questionnaire (SAQ), which has six scales: teamwork climate, safety climate, job satisfaction, stress recognition, perception of management and working conditions. Scale means, SDs and percent positives (percent agreement) were calculated for each NICU. RESULTS:There was substantial variation in safety culture domains among NICUs. Composite mean score across the six domains ranged from 56.3 to 77.8 on a 100-point scale and NICUs in the top four NICUs were significantly different from the bottom four (p<0.001). Across the six domains, respondent assessments varied widely, but were least positive on perceptions of management (3%-80% positive; mean 33.3%) and stress recognition (18%-61% positive; mean 41.3%). Comparisons of SAQ scale scores between NICUs and a previously published adult ICU cohort generally revealed higher scores for NICUs. Composite scores for physicians were 8.2 (p=0.04) and 9.5 (p=0.02) points higher than for nurses and ancillary personnel. CONCLUSION:There is significant variation and scope for improvement in safety culture among these NICUs. The NICU variation was similar to variation in adult ICUs, but NICU scores were generally higher. Future studies should validate whether safety culture measured with the SAQ correlates with clinical and operational outcomes in NICUs.

| S-EPMC3845658 | biostudies-literature

Prevalence, causes and mental health impact of workplace bullying in the Neonatal Intensive Care Unit environment.

Project description:OBJECTIVES:The aim of this study is to examine the prevalence, to report barriers and mental health impact of bullying behaviours and to analyse whether psychological support at work could affect victims of bullying in the healthcare workplace. DESIGN:Self-administered questionnaire survey. SETTING:20 in total neonatal intensive care units in 17 hospitals in Greece. PARTICIPANTS:398 healthcare professionals (doctors, nurses). MAIN OUTCOME MEASURES:The questionnaire included information on demographic data, Negative Act Questionnaire-Revised (NAQ-R) behaviour scale, data on sources of bullying, perpetrators profile, causal factors, actions taken and reasons for not reporting bullying, psychological support and 12-item General Health Questionnaire (GHQ-12) scores to investigate psychological distress. RESULTS:Prevalence of bullying measured by the NAQ-R was 53.1% for doctors and 53.6% for nurses. Victims of bullying differed from non-bullied in terms of gender and job experience, among demographic data. Crude NAQ-R score was found higher for female, young and inexperienced employees. Of those respondents who experienced bullying 44.9% self-labelled themselves as victims. Witnessing bullying of others was found 83.2%. Perpetrators were mainly females 45-64 years old, most likely being a supervisor/senior colleague. Common reasons for not reporting bullying was self-dealing and fear of consequences. Bullying was attributed to personality trait and management. Those who were bullied, self-labelled as a victim and witnessed bullying of others had higher GHQ-12 score. Moreover, psychological support at work had a favour effect on victims of bullying. CONCLUSIONS:Prevalence of bullying and witnessing were found extremely high, while half of victims did not consider themselves as sufferers. The mental health impact on victims and witnesses was severe and support at work was necessary to ensure good mental health status among employees.

| S-EPMC5855440 | biostudies-literature

Pneumomediastinum in the neonatal and paediatric intensive care unit.

Project description:The incidence, aetiology and pathophysiology of pneumomediastinum (PM), an uncommon and potentially serious disease in neonates and children, were evaluated. A retrospective chart review of all patients diagnosed with PM who were hospitalised in the intensive care unit of the University Children's Hospital Zürich, Switzerland, from 2000 to 2006, was preformed. We analysed the incidence, severity and causes of PM and investigated the possible differences between neonatal and non-neonatal cases. Seven children and nine neonates were identified with PM. All patients had a good outcome. Six cases of PM in the group of children older than 4 weeks were deemed to be caused by trauma, infection and sports, whereas one case was idiopathic. All nine neonatal cases presented with symptoms of respiratory distress. We were able to attribute four cases of neonatal PM to pulmonary infection, immature lungs and ventilatory support. Five neonatal cases remained unexplained after careful review of the hospital records. In conclusion, PM in children and neonates has a good prognosis. Mostly, it is associated with extrapulmonary air at other sites. It is diagnosed by chest X-ray alone. We identified mechanical events leading to the airway rupture in most children >4 weeks of life, whereas we were unable to identify a cause in half of the neonates studied (idiopathic PM).

| S-EPMC2254655 | biostudies-other

intensive care unit shotgun raw sequences

Project description:intensive care unit shotgun raw sequences Metagenome

| PRJNA562118 | ENA

Neonatal intensive care unit: predictive models for length of stay.

Project description:Hospital length of stay (LOS) is important to administrators and families of neonates admitted to the neonatal intensive care unit (NICU). A prediction model for NICU LOS was developed using predictors birth weight, gestational age and two severity of illness tools, the score for neonatal acute physiology, perinatal extension (SNAPPE) and the morbidity assessment index for newborns (MAIN).Consecutive admissions (n=293) to a New England regional level III NICU were retrospectively collected. Multiple predictive models were compared for complexity and goodness-of-fit, coefficient of determination (R (2)) and predictive error. The optimal model was validated prospectively with consecutive admissions (n=615). Observed and expected LOS was compared.The MAIN models had best Akaike's information criterion, highest R (2) (0.786) and lowest predictive error. The best SNAPPE model underestimated LOS, with substantial variability, yet was fairly well calibrated by birthweight category. LOS was longer in the prospective cohort than the retrospective cohort, without differences in birth weight, gestational age, MAIN or SNAPPE.LOS prediction is improved by accounting for severity of illness in the first week of life, beyond factors known at birth. Prospective validation of both MAIN and SNAPPE models is warranted.

| S-EPMC4073289 | biostudies-literature

Sources of clinically significant neonatal intensive care unit phthalate exposure.

Project description:In the United States each year, more than 300,000 infants are admitted to neonatal intensive care units (NICU) where they are exposed to a chemical-intensive hospital environment during a developmentally vulnerable period. Although multiple studies have demonstrated elevated phthalate biomarkers in NICU patients, specific sources of NICU-based phthalate exposure have not been identified.In this study, premature newborns with birth weight <1500?g were recruited to participate in a prospective environmental health cohort during the NICU hospitalization. Exposure to specific NICU equipment was recorded daily during the NICU hospitalization. One hundred forty-nine urine specimens from 71 infants were analyzed for phthalate metabolites using high-performance liquid chromatography/tandem mass spectrometry.In initial analyses, exposure to medical equipment was directly related to phthalate levels, with DEHP biomarkers 95-132% higher for infants exposed to specific medical equipment types compared to those without that equipment exposure (p?<?0.001-0.023). This association was mirrored for clinically relevant phthalate mixtures whether composed of DEHP metabolites or not (p?=?0.002-0.007). In models accounting for concurrent equipment use, exposure to respiratory support was associated with DEHP biomarkers 50-136% higher in exposed compared to unexposed infants (p?=?0.007-0.036). Phthalate mixtures clinically relevant to neurobehavioral development were significantly associated with non-invasive respiratory support (p?=?0.008-0.026). Feeding supplies and intravenous lines were not significantly associated with clinically important phthalate mixtures.Respiratory support equipment may be a significant and clinically relevant NICU source of phthalate exposure. Although manufacturers have altered feeding and intravenous supplies to reduce DEHP exposure, other sources of exposure to common and clinically impactful phthalates persist in the NICU.

| S-EPMC6538481 | biostudies-literature

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