Case Of Neonate Research Articles

Correlation Analysis of LWB Neonatal Mortality: Iron-Folic Acid Tablet During Pregnancy and Four Antenatal Care Coverage in East Java (Period 2019-2021)

Background: Neonatal death is a condition responsible for babies' deaths during the first month after birth (0-28 days). Low birth weight (LBW) conditions are the leading cause of neonatal death. Nutritional needs during pregnancy can reduce the risk of LWB neonatal death. One way to avoid it is to take iron-folic acid tablets during pregnancy. Health conditions must be monitored during pregnancy to reduce the risk of neonatal death by conducting four ANC. East Java is one of the largest contributors to LWB neonatal death in Indonesia 2019-2021. Objectives: This study aimed to analyze the relationship of LWB neonatal death with the coverage of iron-folic acid tablet pregnancy and four ANC in East Java. Methods: This study used an observasional analytic study design with 38 cities/regencies in East Java. The Pearson correlation test was used to analyze secondary data from the East Java Health Report for 2019-2021. Data processing was done using SPSS 18. Results: The results of this study show that the neonatal death rate in East Java continues to decrease from 2091-2021. The the coverage of iron-folic acid tablet pregnancy was largest in 2019 (92%) and lowest in 2020 (88.5%). Four ANC coverage was the largest in 2019 (91.2%) and the lowest in 2020 (90%). There was no significant correlation between iron-folic acid tablets of pregnant women coverage and cases of neonatal death from LBW in 2019 (p = 0.504; r = -0.112), whereas there was a significant correlation between four ANC coverage and neonatal death cases due to LBW in 2019 (p = 0.001; r = -0.497). Conclusions: The coverage of iron-folic acid tablets was not associated with the incidence of LWB neonatal death but with four ANC coverage. Educating people about the importance of four ANC during pregnancy is essential to prevent neonatal death.

SMC4 Loss of Function Is a New Cause of Inherited Bone Marrow Failure

Inherited bone marrow failure syndromes (IBMFS) are a rare, heterogenous group of syndromes that are characterized by cytopenias, bone marrow hypocellularity, and in many cases an increased risk of transformation to myeloid malignancy. Presentation with severe pancytopenias at birth is reported but occurs very rarely, and more often neonatal pancytopenia is attributed to congenital and acquired infections or other acquired causes. We present the case of a preterm neonate with pancytopenia from birth and bone marrow failure of no known infectious, other acquired, or genetic etiology. Antenatal findings were notable for non-immune hydrops fetalis at 30 weeks of gestation prompting delivery. The initial laboratory evaluation revealed a normocytic, reticulocytopenic, severe anemia; leukopenia with an absolute neutrophil count of 500; and severe thrombocytopenia. Viral testing, including parvovirus, rubella, herpes simplex virus, cytomegalovirus, adenovirus, and enterovirus, was negative. Additional testing, including a chromosomal microarray, mitochondrial genome sequencing, chromosome stress testing, neonatal alloimmune thrombocytopenia panel, and telomere length analysis, was non-diagnostic. Bone marrow biopsy showed a remarkably hypoplastic marrow without evidence of dysplasia or cytogenetic abnormalities. The proband underwent matched unrelated donor hematopoietic stem cell transplant, and died approximately one month later from post-transplantation complications including hepatic veno-occlusive disease, thrombotic microangiopathy, CNS and pulmonary hemorrhages, pseudomonal sepsis, and multi-organ dysfunction. Autopsy was significant for microscopic pancreatic atrophy with lipomatous hypertrophy and osteopenia. The proband and parents underwent clinical exome testing which was non-diagnostic and then consented to research reanalysis of the exome data. Research reanalysis identified the infant was compound heterozygous for predicted deleterious variants in the Structural Maintenance of Chromosomes 4 gene (SMC4), inherited in trans from each unaffected parent (c.2478_2479ins10 splice site variant predicted to alter splicing and c.T591G; p.Y197X). Germline variants in SMC4 have not been reported as a cause of human disease; however, somatic variants are observed in several cancers including in acute myeloid leukemia (AML). SMC4 is a highly conserved protein that forms a heterodimer with Structural Maintenance of Chromosomes 2 (SMC2) in the condensin II protein complex. This complex is important for chromosome condensation, cell division, and DNA repair. Within hematopoietic tissue, SMC4 expression is higher in hematopoietic stem and progenitor cells when compared with mature lineage cells. Given the predicted loss of function from both SMC4 variants, we performed RNAseq on proband and control fibroblasts. This showed a roughly 10-fold decrease in total SMC4 transcript levels (Figure 1A). A significant proportion of the transcript present was comprised of an aberrantly spliced transcript characterized by exon 15 skipping. We therefore hypothesized that loss of SMC4 expression leads to a cell intrinsic defect in hematopoiesis. To test this hypothesis, we used CRISPR-Cas9 gene editing to generate knockout of SMC4 in human cord blood CD34+ hematopoietic stem/progenitor cells (HSPCs) before culturing cells in an all-colony forming unit (CFU) assay. Using two independent small guide RNAs, we were able to achieve approximately 80% knock-down. After 14 days in culture, we observed a striking decrease in CFUs when compared with controls, though the composition of colony types was relatively unchanged (Figure 1B). Using next-generation sequencing, we observed a significant decrease in remaining SMC4 genome edits at the end of the culture period, suggesting a relative disadvantage of SMC4-edited cells for survival and/or proliferation. In summary, we describe a preterm infant with congenital bone marrow failure without an identifiable cause and link this phenotype to biallelic loss-of-function variants in SMC4. This is the first study identifying SMC4 as a novel gene that causes inherited bone marrow failure, and further experiments are underway to validate this finding.

Comparison of clinical presentation and outcome of neonatal SARS-COV2 during second wave from April-May 2021 and third wave from December 2021 to January 2022 in a tertiary care hospital in Eastern India

Background: SARS-COV-2 manifestations in neonates acquired in the later part of neonatal life, were compared over 2 peaks over April-May 2021 (2nd wave) and (December 2021 to January 2022) (3rd wave). Setting: Study was done in Calcutta National Medical College, a tertiary care center of eastern India. Methods: Cross sectional study was done among the admitted neonatal cases in COVID designated NICU. Neonates acquired the COVID-19 infection after birth. All mothers were tested negative during delivery. Results: 40 neonates were admitted in April-May 2021 in COVID designated NICU and 42 neonates were admitted in December to January 2022. 66.6% mothers were COVID-19 RTPCR positive in December-January 2022 cases than 49.3% mothers in April-May 2021. These mothers were tested as COVID-19 negative at the time of delivery. None of the mothers were vaccinated in 2021 cases. Only 13.3% mothers received two doses of COVID-19 vaccination in December-January 2022 cases. Initial complaints were lethargic, not arousable (22.7%) and poor respiratory effort (27.5%) in December-January 22 cases. Respiratory (rapid breathing 40%) and gastrointestinal symptoms (diarrhoea 25.3%) were more predominant in neonates who were admitted in April-May 2021 than neonates who presented on January 2022. Hospital stay was significantly less in neonates in December-January 2022 (p=0.005). Genome sequencing revealed Omicron BA-2 in January 2022. Conclusions: Clinical presentations differ in neonates in April-May 2021 and December-January 2022 probably due to difference in the nature of the virus.

A common diagnosis in an uncommon age: acute neonatal parotitis case report

A common diagnosis in an uncommon age: acute neonatal parotitis case report

Factors Associated With Culture-proven Neonatal Sepsis and Resistance to First-line Antibiotics in Indonesia.

Neonatal sepsis is one of the leading causes of neonatal morbidity and mortality in low- and middle-income countries. Blood culture positivity rates and antibiotic resistance pattern of neonatal sepsis differs across various regions. This study aims to identify clinical cofactors associated with blood culture-proven neonatal sepsis and in vitro resistance to first-line antibiotics (ampicillin and gentamicin) from cases originating in a tertiary healthcare center in Surabaya, Indonesia. A retrospective cohort study was conducted from January 2020 to August 2022 by utilizing secondary data collected from standardized electronic medical records. Microbiological characteristics and associated factors were statistically analyzed using multivariable logistic regression. Across 266 neonatal sepsis cases, 46.9% were culture-proven and 79.2% of confirmed sepsis were resistant to first-line antibiotics. The most common isolated pathogen is Klebsiella pneumoniae, followed by coagulase-negative Staphylococci, Acinetobacter baumannii and Enterobacter cloacae. Extremely preterm delivery [adjusted odds ratio (aOR): 5.813; 95% confidence interval (CI): 1.70-19.91] and late-onset sepsis (aOR: 9.165; 95% CI: 5.12-16.40) were associated with culture-proven neonatal sepsis. Increased odds of resistance to first-line antibiotics were identified in extremely preterm (<28 weeks) or very-preterm delivery (28 to <32 weeks) (aOR: 50.80; 95% CI: 1.66-1554.21 and aOR: 45.679; 95% CI: 3.22-647.46, respectively), cesarean section (aOR: 4.149; 95% CI: 1.04-16.53) and an absence of antenatal corticosteroid use (aOR: 0.233; 95% CI: 0.07-0.76). The association between clinical cofactors with culture-proven sepsis and antibiotic resistance emphasizes the importance for clinicians to adjust empirical antibiotic regimens based on the local antibiogram and resource availability.

Impact of villitis of unknown etiology and adverse acute neonatal outcomes in Eastern Ontario

IntroductionVillitis of unknown etiology (VUE) is a histopathological lesion associated with adverse neonatal outcomes. We seek to define the obscure relationship between the severity and distribution of VUE and adverse neonatal outcomes. MethodsA retrospective chart review was conducted of pathologic findings from singleton placentas diagnosed with VUE between 2013 and 2019. Control placentas were matched 1:1 for gestational age and presence/absence of fetal IUGR. Neonatal outcomes of interest included: newborn resuscitation, NICU admission, Apgar scores and cord blood acidosis. Odds ratio and 95 % confidence intervals were calculated with controls as the reference. Results452 placentas were included. 35 % of pregnancies were complicated by IUGR. When analyzed by severity (low-grade: OR = 4.75 [2.86–8.14]; high-grade: OR = 4.76 [2.71–8.79]) and distribution (focal: OR = 5.24 [2.87–10.17]; multifocal: OR = 4.90 [2.90–8.59]), VUE was significantly associated with need for newborn resuscitation. No other neonatal outcomes of interest were significantly associated with VUE diagnosis. DiscussionWe determined a statistically significant association between VUE severity and distribution and the need for newborn resuscitation. VUE lesions were not associated with any additional neonatal outcomes of interest. Further studies with larger sample sizes are required to confirm these associations for obstetric and neonatal case management.

Trends and spatial distribution of neonatal sepsis, Uganda, 2016–2020

BackgroundIn Uganda, sepsis is the third-leading cause of neonatal deaths. Neonatal sepsis can be early-onset sepsis (EOS), which occurs ≤ 7 days postpartum and is usually vertically transmitted from the mother to newborn during the intrapartum period, or late-onset sepsis (LOS), occurring 8–28 days postpartum and largely acquired from the hospital environment or community. We described trends and spatial distribution of neonatal sepsis in Uganda, 2016–2020.MethodsWe conducted a descriptive incidence study using routinely-reported surveillance data on in-patient neonatal sepsis from the District Health Information System version 2 (DHIS2) during 2016–2020. We calculated incidence of EOS, LOS, and total sepsis as cases per 1,000 live births (LB) at district (n = 136), regional (n = 4), and national levels, as well as total sepsis incidence by health facility level. We used logistic regression to evaluate national and regional trends and illustrated spatial distribution using choropleth maps.ResultsDuring 2016–2020, 95,983 neonatal sepsis cases were reported, of which 71,262 (74%) were EOS. Overall neonatal sepsis incidence was 17.4/1,000 LB. EOS increased from 11.7 to 13.4 cases/1,000 LB with an average yearly increase of 3% (p < 0.001); LOS declined from 5.7 to 4.3 cases/1,000 LB with an average yearly decrease of 7% (p < 0.001). Incidence was highest at referral hospitals (68/1,000 LB) and lowest at Health Center IIs (1.3/1,000 LB). Regionally, total sepsis increased in Central (15.5 to 23.0/1,000 LB, p < 0.001) and Northern regions (15.3 to 22.2/1,000 LB, p < 0.001) but decreased in Western (23.7 to 17.0/ 1,000 LB, p < 0.001) and Eastern (15.0 to 8.9/1,000, p < 0.001) regions.ConclusionThe high and increasing incidence of EOS in Uganda suggests a major gap in sepsis prevention and quality of care for pregnant women. The heterogenous distribution of neonatal sepsis incidence requires root cause analysis by health authorities in regions with consistently high incidence. Strengthening prevention and treatment interventions in Central and Northern regions, and in the most affected districts, could reduce neonatal sepsis. Employment of strategies which increase uptake of safe newborn care practices and prevent neonatal sepsis, such as community health worker (CHW) home visits for mothers and newborns, could reduce incidence.

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2

Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1 and COL1A2 genes which are essential to produce type I collagen. We report the case of a female neonate delivered to a 27-year-old women at San Bartolomé Teaching Hospital with a family history of clavicle fracture. A prenatal control with ultrasound was performed to the mother at 29 weeks. A fetus with altered morphology and multiple fractures was found. Therefore, a prenatal diagnosis of osteogenesis imperfecta was performed. The neonate was born with a respiratory distress syndrome and an acyanotic congenital heart disease. Therefore, she remained in NICU until her death. We highlight the importance of prenatal diagnosis, genetic counseling and a multidisciplinary evaluation in this type of pathologies and report a new probably pathogenic variant in the COL1A2 gene detected by exomic sequencing in amniotic fluid.

Causes of sudden neonatal mortality disclosed by autopsy and histopathological examination.

The neonatal period, or the first 28 days of life, is the most vulnerable time in a child's life. Neonatal mortality has decreased in recent years. However, this progress varies at the national level, which necessitates actual regional data from different countries to identify local handicaps for life-saving precautions. This study aimed to investigate the causes for neonatal deaths as revealed by autopsy and histopathological examinations. A retrospective cross-sectional study was designed to identify the main causes of neonatal deaths in children who were autopsied at our institution between January 1, 2014, and December 31, 2021. Children who died within the first 28 days after birth (1-28 days of age) were referred to as neonatal cases. The main causes of neonatal death in children were determined via autopsy and histopathological and toxicological examinations. Furthermore, the causes of death were classified according to their manner of death. During this period, 122 neonatal children were autopsied at our institution. This group comprised 57 girls and 65 boys. For the manner of the death, natural causes were the most common cause (n = 91, 74.5%). Among natural causes, pneumonia (n = 66) was the leading one, representing 54% of all neonatal deaths, followed by perinatal conditions (n = 16, 13.1%). One of the pioneering reasons for death was sudden, unexpected postnatal collapse (n = 24, 19.6%), which was categorized under the undetermined group considering the manner of death. Unintentional (accidental) deaths accounted for 0.8% (n = 1) of total deaths, and intentional deaths were responsible for 6 neonates (4.9%) losses. This study shows that newborn children still die from simple and treatable infectious causes, probably arising from various familial and/or public inadequacies. In addition, sudden and unexpected postnatal collapse remains an important cause of neonatal mortality that has yet to be fully resolved. This study points out valuable inferences for caregivers and competent authorities to take preventive measures to prevent avoidable neonatal deaths.

A fatal case of neonatal viral sepsis caused by human parainfluenza virus type 3

BackgroundSepsis is a systemic inflammatory response syndrome caused by severe infection in children, but cases of sepsis associated with human parainfluenza virus (HPIV) have been rarely reported in newborns.Case presentationWe report a case of HPIV-3 positive full-term newborn admitted to the Neonatal Intensive Care Unit of Beijing Children’s Hospital due to hematuria, gloomy spirit, inactivity and loss of appetite for 6 h. He had septic shock when he arrived the Accident & Emergency Department requiring immediate intubation and mechanical ventilation. Intravenous antibiotics were started. He had completely negative response to all anti-shock treatments including fluid resuscitation and vasopressor supports, and died 14 h later. Viral nucleic acid detection and metagenomic next-generation sequencing (mNGS) analyses of nasopharyngeal aspirate and blood specimens verified an HPIV-3 infection, with negative bacterial culture results. The HPIV-3 strain detected in this patient was subtyped as HPIV C3a, and two unreported amino acid mutations were found in the HN protein region.ConclusionThe patient had a severe infection associated with HPIV-3, which was the cause of sepsis and septic shock. This study showed the diagnostic value of mNGS in etiological diagnosis, especially in severe neonatal case.

How Consistent are Perinatal Case Disease Diagnosis Codes Based on ICD 10? A Case Study from Ciremai Hospital

The mortality rate of neonatal cases in Indonesia in 2021 reached 20,154 cases, the cause of death was dominated by diagnoses of Low Birth Weight, asphyxia, infections, and congenital abnormalities. In health care practice, the diagnosis of illness during treatment will be recorded in a medical record. The medical record will contain administrative and clinical data, one of which contains the diagnosis code and actions during treatment. The diagnosis code established in the medical record must be precise, accurate, and consistent in accordance with ICD-10. This study included a type of quantitative descriptive research with a sample of 222 infant medical records, the sample technique used was purposive sampling. The results showed that the coding process at Ciremai Hospital in Cirebon City was 100% electronic, where from 222 infant medical record documents there were 167 consistent diagnosis codes and 55 inconsistent diagnosis codes. This is caused by 2 things, namely improper diagnosis codes and improper code reselection. Thus, the determination of the diagnosis code for perinatal cases at Ciremai Hospital in Cirebon City in 2022 shows that the consistency of the diagnosis code of 75% or as many as 167 diagnosis codes is consistent.

Use of levosimendan in hemodynamic management of heart failure in two neonates with intracranial arteriovenous shunts: a case series

BackgroundThe hemodynamic status of newborns with intracranial arteriovenous shunts (AVSs) may be extremely complex. Mini-invasive hemodynamic monitoring through innovative techniques such as Near-Infrared Spectroscopy (NIRS) and Pressure Recording Analytical Method (PRAM) may help in understanding hemodynamics in newborns with AVSs. Levosimendan is a calcium sensitizer and inodilator, and it is known to improve ventricular function, but its use in newborns is limited. In our cases, we evaluated the effect of levosimendan on hemodynamics through NIRS and PRAM.Case presentationHerein, we report the cases of two neonates with intracranial arteriovenous shunts, in whom we used levosimendan to manage cardiac failure refractory to conventional treatment. Levosimendan was used at a dosage of 0.1 mcg/kg/min for 72 h. Combined use of NIRS and PRAM helped in real-time monitoring of hemodynamic effects; in particular, levosimendan determined significant improvement in myocardium contractility as well as a reduction of heart rate.ConclusionIn two neonatal cases of AVSs, levosimendan led to an overall hemodynamic stabilization, documented by the combination of NIRS and PRAM. Our results suggest introducing levosimendan as a second-line treatment in cases of severe cardiac dysfunction due to AVSs without improvement using standard treatment strategies. Future prospective and larger studies are highly warranted.

Neonatal cholestasis as the onset symptom of McCune-Albright syndrome: case reports and a literature review.

This study aimed to summarize and show the characteristics and evolutionary process of neonatal cholestasis caused by McCune-Albright syndrome (MAS), as neonatal cholestasis may be the initial manifestation of MAS before other classic clinical features appear. The clinical characteristics, treatment methods, and outcomes of three neonatal cholestasis cases caused by MAS in our center were retrospectively studied. In addition, all the reported cases of MAS combined with cholestasis were reviewed and summarized to show the cholestatic features in them. We have confirmed three MAS cases in our center, presenting onset symptoms of jaundice, pale stool, and neonatal cholestasis soon after birth. The cholestasis subsided spontaneously at around the sixth month. The literature review showed that the levels of total bilirubin, conjugated bilirubin, ALT, AST, and GGT in neonatal MAS cholestasis cases were 207 μmol/L (range 65-445 μmol/L), 162 μmol/L (range 46-412 μmol/L), 821 U/L (range 85-3,597 U/L), 532 U/L (range 127-3,633 U/L), and 244 U/L (range 79-3,800 U/L), respectively. Liver histology showed canalicular and hepatocellular cholestasis, giant hepatic cell transformation, and bile paucity. Extrahepatic manifestations such as café-au-lait pigmented skin lesions, Cushing's syndrome, hyperthyroidism, renal tubular dysfunction, and skeletal abnormalities could occur simultaneously when jaundice occurred. GNAS mutations had a high positive rate (83.3%-100%) in liver tissue with cholestasis. Neonatal cholestasis caused by MAS could be self-resolved, but hepatic lesions persist and have malignant potential. MAS can be one of the causes of neonatal cholestasis, which may be the first manifestation of the disease. Extrahepatic coexisting symptoms of MAS and liver histology can help to distinguish MAS from other etiology of cholestasis. Detecting GNAS mutations in liver tissue may shorten diagnostic time and is of particular interest in the partial and atypical forms of MAS with neonatal cholestasis. Neonatal cholestasis in children with MAS can self-resolve, but liver dysfunction and malignant lesions persist.

Guidelines for quality control and management of death cases in medical institutions (2023)

The report of death cases is an important source of information for cause analysis and monitoring of trends, which can reflect the death situation and characteristics of a population in a relatively accurate manner. It helps understand the health status of the population and the level of healthcare. The special deployment of case review for in-hospital deaths is not only the high priority for health authorities in terms of quality and safety of medical care but also a practical implementation of the concept that values people and life. Currently, there is a lack of scientific and standardized evaluation for the review of death cases in various specialties, excluding maternal and neonatal cases. To standardize the quality control and management of death cases in medical institutions, the Guidelines for quality control and management of death cases in medical institutions (2023) has been developed by the Hunan Province Resuscitation Quality Control Center. The members of the working group of this guideline visited medical institutions, conducted research, reviewed relevant guidelines from domestic and international sources, and integrated clinical experience to form a preliminary consensus. This consensus was submitted to the expert group for multiple discussions, underwent several revisions, and finally, it was sent to the experts in the form of a questionnaire for feedback. The guidelines clarify the scope, data collection, and quality control requirements for death case quality control, providing a reference for the quality control and management of death cases in medical institutions.

Risk Factors for Neonatal Death in Konawe Islands District

Background: The prevalence of neonatal mortality rate of Konawe Islands Regency in 2019 was 22 per 1000 live births, in 2020 it was 26.2 per 1000 live births and experienced a significant increase in 2021 to 34.9 per 1000 live births (Konawe Islands Regency Health Office 2019-2021). The purpose of the study was to analyze the risk factors of Mothers, Infants, Work and Postpartum care for Neonatal deaths in the Konawe Islands Regency.&#x0D; Methods: This study used a Case Control Study approach. The population numbered 48 people. The Study Sample totaled 24 case samples and 24 control samples. The sample technique in this study is Simple Random Sampling. The data is processed using the Odds Ratio Test. &#x0D; Result: The results showed that the gestational age or 7,286 LL value 2,034 and UL 26,102, PARITY OR 3,215 LL value 0.902 and UL value 11,460, disease history OR 6,000 LL value 1,711 and UL value 21,038, BMI OR 4,200 LL value 1,228 and UL value 14,365, against Neonatal deaths in the Konawe Islands Regency Area.&#x0D; Conclusion: The conclusions in this study show that maternal factors, infant factors and postpartum care are risk factors while occupation is not a risk factor for neonatal mortality in the Konawe Islands Regency. It is expected for the Health Office and Puskesmas to always provide education in the form of counseling and counseling related to maternal and child health to reduce neonatal death cases.

The perinatal period should be considered in neonatal acute respiratory distress syndrome: comparison of the Montreux definition vs. the second pediatric acute lung injury consensus conference definition.

The recently developed Montreux definition for neonatal acute respiratory distress syndrome (ARDS) partially differs from the Second Pediatric Acute Lung Injury Consensus Conference (PALICC-2) definition. Here, we compare the Montreux and PALICC-2 definitions regarding morbidity, mortality, and prognosis of neonatal cases of ARDS in order to evaluate which definition is more appropriate for newborns. Neonates admitted to our neonatal intensive care unit between 1 January 2018 and 30 September 2019 who met the Montreux or PALICC-2 definition of neonatal ARDS were retrospectively analyzed (n = 472). One comparison was made between application of the Montreux and PALICC-2 definitions to neonates outside the perinatal period (> 7 d after birth). A second comparison was made between a diagnosis of neonatal ARDS within (≤ 7 d of birth) and outside (> 7 d after birth) the perinatal period using the Montreux definition. No significant differences in morbidity, mortality, severity, therapies, or prognosis were observed between neonates in the extra perinatal group according to the Montreux and PALICC-2 definitions. However, epidemiology, clinical course, and prognosis of neonatal ARDS within the perinatal period did differ from those outside the perinatal period according to the Montreux definition. Neonates with ARDS within the perinatal period have unique triggers, epidemiology, clinical course, and prognosis, yet a similar pathobiology pattern, to neonates at other ages. Therefore, it may be essential to consider the perinatal period when defining neonatal ARDS.

B-262 Evaluation of the Genotypic Profile of the c.202 G&amp;gt;A Mutation in the G6PD Gene in Brazil

Abstract Introduction Glucose 6 phosphate dehydrogenase (G6PD) is an enzyme found in the cytoplasm of all human cells and plays an important role in preventing cellular damage to reactive oxygen species (ROS). G6PD deficiency is inherited in an X-linked recessive genetic disorder that can destroy red blood cells (hemolysis) leading to acute hemolytic anemia during periods of increased ROS production. The disease prevalence is more frequent in male individuals. To date, more than 400 G6PD variants have been identified, and molecular studies have shown that G6PD deficiency can be associated with different mutations. The c.202 G &amp;gt; A mutation (rs1050828; NM_000402.4) was described as the most frequent. The rapid and accurate diagnosis of this condition is extremely important in neonatal screening and cases of diagnostic suspicion. Therefore, this study aims to describe the genotypic profile of the c.202 G &amp;gt; A mutation in the G6PD gene in Brazilian samples by two molecular assays. Methods Genomic DNA samples from 130 individuals previously genotyped by Restriction Fragment Length Polymorphism PCR were used for validation. DNA isolation was performed in MagNA Pure 24 Total NA Isolation Kit at the automated platform MagNA Pure 24 System (Roche Diagnostics, Basel, Switzerland), according to manufacturer instructions. Genotyping for rs1050828 was performed using TaqMan SNP Genotyping Assays (Thermo Fisher, Foster City, CA) at 7500 Fast Real-Time PCR System (Thermo Fisher, Foster City, CA), according to manufacturer instructions. The results were analyzed using TaqMan Genotyper Software version 1.0.1. Results This study evaluated 130 blood samples, of which 81 were men (62.3%) and 49 were women (37.7%). Male carriers of rs1050828 A genotype (hemizygotes) predominated (56/81, 69.1%) and the remaining carriers for allele G (wild type) were 25/81 (30.9%). While female carriers of rs1050828 GG (wild type) predominated (39/49, 79.6%), heterozygotes were 5/49 (10.2%), and homozygotes also were 5/49 (10.2%). The number of male individuals with the presence of the mutation in hemi/homozygotes was considerably higher when compared to female individuals. This is explained by the fact that the mutation is inherited in an X-linked recessive manner. The results showed agreement and reproducibility of 100% for both methodologies. However, the qPCR assay sensibility and efficiency (&amp;gt;99%) were higher than the RFLP PCR assay. Conclusions Here, we described an efficient molecular method to detect the mutation c.202 G&amp;gt;A in the G6PD gene. The frequency of c.202 G&amp;gt;A described in this study was similar to that observed in others population studies in Brazil. Detection of the mutation target requests an additional evaluation of the G6PD activity level. Obtained results should be evaluated in association with the clinical aspects. The absence of the c.202 G&amp;gt;A in the G6PD gene does not exclude the existence of other mutations in the same region.

The main changes in neuroradiology of patients with Covid-19: an integrative review

Covid-19 is a viral disease, caused by SARS-CoV-2, with a cyclical epidemiological behavior, causing systemic complications, mainly in the neurological field. In these cases, the patient needs to be evaluated clinically and by complementary exams, such as brain computed tomography (CT) and magnetic resonance imaging (MRI). In the last years, efforts have been made in order to clarify molecular mechanisms involved in this disease. Several studies have demonstrated the importance and variety of neuroimaging findings, most of which point to alterations related to hemorrhagic, inflammatory and prothrombotic events, bringing an increased risk of death. The aim of this review was to gather the recent evidence by imaging approach on the neurological early and long term risks especially those involved with unfavorable clinical damage, presence of comorbidities and invasive procedures. The present data indicates that Infection with SARS-CoV-2 brought a diversity of neurological changes in adults and the elderly, with long-term effects on the cognition. However, special interest and investigation needs to be given to the neonatal and pediatric cases, due to the inherent risks of the disease, development of systemic inflammatory syndromes and reported deaths.

Novel Genotype of Streptococcus dysgalactiae subsp. equisimilis Associated with Mastitis in an Arabian Filly: Genomic Approaches and Phenotypic Properties

Streptococcus dysgalactiae subsp. equisimilis (Sde) is a commensal bacterium of horses that causes opportunistic infections. The aim of the work was to study genotypic and phenotypic properties of the Sde strain related to equine neonatal mastitis. Sde was isolated from an 8 day-old filly and sequenced for genome analysis, antibiotic susceptibility tests and virulence factor (VF) assays. The Sde strain presented the novel emm-subtype stC839.12 and the novel multilocus-sequence type ST-670, which belonged to a specific equine genotype group. Although no specific genotypic mechanisms related to antibiotic resistance were found, it presented genes encoding efflux pumps and transporters pmrA, bmrC and lmrP. Genes encoding several putative VFs including emm, cpa, fbp-2, adcA, hyl, htrA, tig, slo, and ndk and loci-encoding phosphoenolpyruvate-protein phosphotransferase systems were identified. This is the first report of an equine neonatal mastitis case caused by a novel genotype and horse specific Sde strain.

Neonatal Tetanus: case report in Saudi Arabia

Aims: This paper aims to investigate a case of neonatal tetanus in Saudi Arabia, studying the different factors leading to infection, role and protocols used in hospital in diagnosis and management of the case. Methods: A medical profile of neonatal case confirmed for neonatal tetanus was collected and studied, in addition to collecting literature reviews about epidemiology, diagnosis and management. Results: A newborn 7-day old girl with poor socioeconomical status and poor aseptic delivery had been admitted to hospital with symptoms of jerky repetitive movement and history of decreased feeding and poor sucking for one day. Laboratory tests, cranial computed tomography (CT) and lumbar puncture were performed, all of them with normal results. She was hospitalized on 12 November, 2019 in an environment free of sensorial stimuli in the Pediatric Intensive Care Unit (PICU), with assisted ventilation. The patient was treated with metronidazole 30mg/kg/day, ampicillin 150 mg/kg/day, and cefotaxime 150mg/kg/day. Sedation was maintained with midazolam 6mic/kg/min. Also, we started on muscle relaxation pancuronium 0.1 mg /kg/hr. and Magnesium sulfate. Besides that, we administered human immunoglobulin IM (500 IU), as well as one dose of tetanus toxoid. During hospital admission the condition of the patient was much improved. On 19 December 2019 the patient was extubated and started with baclofen and physiotherapy. Conclusion: This case indicates that non-sterile delivery by non-practical attendants are the biggest cause of neonatal tetanus along with mothers unimmunized against tetanus. However, in the rarest of incidence of neonatal tetanus, physicians should be prepared to suspect, diagnose and treat neonatal tetanus and ensure clear and clean delivery of newborns. A combination of antibiotics and muscular relaxants are used to manage neonatal tetanus. Key words: neonatal tetanus, case report, Saudi Arabia