Dataset Information

Association of the FCN2 Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates.

ABSTRACT: Single nucleotide polymorphisms (SNPs) localised to the promoter region of the FCN2 gene are known to influence the concentration of ficolin-2 in human serum and therefore potentially have clinical associations. We investigated the relationships between SNPs at positions −986 (A > G), −602 (G > A), −64 (A > C) and −4 (A > G) and clinical complications in 501 preterms. Major alleles at positions −986 and −64 and A/A homozygosity for both polymorphisms were less frequent among babies with very low birthweight (VLBW, ≤1500 g) compared with the reference group (OR = 0.24, p = 0.0029; and OR = 0.49, p = 0.024, respectively for A/A genotypes). A lower frequency of G/G homozygosity at position −4 was associated with gestational age <33 weeks and VLBW (OR = 0.38, p = 0.047; and OR = 0.07, p = 0.0034, respectively). The AGAG haplotype was protective for VLBW (OR = 0.6, p = 0.0369), whilst the GGCA haplotype had the opposite effect (OR = 2.95, p = 0.0249). The latter association was independent of gestational age. The AGAG/GGAA diplotype favoured both shorter gestational age and VLBW (OR = 1.82, p = 0.0234 and OR = 1.95, p = 0.0434, respectively). In contrast, AGAG homozygosity was protective for lower body mass (OR = 0.09, p = 0.0155). Our data demonstrate that some FCN2 variants associated with relatively low ficolin-2 increase the risk of VLBW and suggest that ficolin-2 is an important factor for fetal development/intrauterine growth.

SUBMITTER: Szala-Pozdziej A

PROVIDER: S-EPMC9740280 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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Association of the <i>FCN2</i> Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates.

Szala-Poździej Agnieszka A Świerzko Anna S AS Gajek Gabriela G Kufelnicka-Babout Maja M Chojnacka Karolina K Kobiela Paulina P Jarych Dariusz D Sobczuk Katarzyna K Mazela Jan J Domżalska-Popadiuk Iwona I Kalinka Jarosław J Sekine Hideharu H Matsushita Misao M Cedzyński Maciej M

International journal of molecular sciences 20221205 23

Single nucleotide polymorphisms (SNPs) localised to the promoter region of the FCN2 gene are known to influence the concentration of ficolin-2 in human serum and therefore potentially have clinical associations. We investigated the relationships between SNPs at positions −986 (A > G), −602 (G > A), −64 (A > C) and −4 (A > G) and clinical complications in 501 preterms. Major alleles at positions −986 and −64 and A/A homozygosity for both polymorphisms were less frequent among babies with very low ...[more]

PMID: 36499663

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Project description:AimThis study aimed to identify early clinical biomarkers from birth to 16 weeks corrected age to predict typical outcome and developmental delay in infants born very preterm or with very low birthweight.MethodA prospective cohort of infants on the Sunshine Coast, Australia, was assessed using the Premie-Neuro Examination, the General Movement Assessment (GMA), the Alberta Infant Motor Scale, and the Infant Sensory Profile 2. At 24 months corrected age, delay was identified using the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) and Neurosensory Motor Developmental Assessment (NSMDA).ResultsOne hundred and four infants were recruited; 79 completed outcome assessments (43 females, 36 males; mean gestational age 30 weeks [SD 1 week 6 days], mean birthweight 1346 g [SD 323]). The incidence of developmental delay (motor or cognitive) was 6.3%. Suboptimal quality of fidgety general movements (temporal organization) at 16 weeks corrected age demonstrated the best predictive accuracy (Bayley-III motor: sensitivity 100% [95% confidence interval {CI} 3-100], specificity 75% [95% CI 63-84], area under the curve [AUC] 0.87); Bayley-III cognitive: sensitivity 100% [95% CI 3-100], specificity 75% [95% CI 64-84], AUC 0.88); NSMDA motor: sensitivity 100% [95% CI 40-100], specificity 81% [95% CI 70-90], AUC 0.91 [95% CI 0.86-0.95]). GMA trajectories that combined abnormal writhing general movements at 4 to 5 weeks corrected age with suboptimal quality of fidgety movement at 16 weeks corrected age were strongly predictive of developmental delay, superior to all other clinical tools, and perinatal and demographic variables investigated (p = 0.01, Akaike information criterion method 18.79 [score corrected for small sample size], accounting for 93% of the cumulative weight).InterpretationOnly the GMA had sufficient predictive validity to act as a biomarker for both conditions: typical outcome and developmental delay (motor or cognitive). GMA trajectories that assessed both writhing general movements at 4 to 5 weeks corrected age and quality of fidgety movement at 16 weeks corrected age predicted adverse neurodevelopmental outcome, accurately differentiating between infants with typical outcomes and those at increased risk for motor or cognitive delay.

Project description:BackgroundHyperglycemia often occurs in premature, very low birthweight infants (VLBW) due to immaturity of endogenous regulatory systems and the stress of their condition. Hyperglycemia in neonates has been linked to increased morbidities and mortality and occurs at increasing rates with decreasing birthweight. In this cohort, the emerging use of insulin to manage hyperglycemia has carried a significant risk of hypoglycemia. The efficacy of blood glucose control using a computer metabolic system model to determine insulin infusion rates was assessed in very-low-birth-weight infants.MethodsInitial short-term 24-hour trials were performed on 8 VLBW infants with hyperglycemia followed by long-term trials of several days performed on 22 infants. Median birthweight was 745 g and 760 g for short-term and long-term trial infants, and median gestational age at birth was 25.6 and 25.4 weeks respectively. Blood glucose control is compared to 21 retrospective patients from the same unit who received insulin infusions determined by sliding scales and clinician intuition. This study was approved by the Upper South A Regional Ethics Committee, New Zealand (ClinicalTrials.gov registration NCT01419873).ResultsReduction in hyperglycemia towards the target glucose band was achieved safely in all cases during the short-term trials with no hypoglycemic episodes. Lower median blood glucose concentration was achieved during clinical implementation at 6.6 mmol/L (IQR: 5.5 - 8.2 mmol/L, 1,003 measurements), compared to 8.0 mmol/L achieved in similar infants previously (p < 0.01). No significant difference in incidence of hypoglycemia during long-term trials was observed (0.25% vs 0.25%, p = 0.51). Percentage of blood glucose within the 4.0 - 8.0 mmol/L range was increased by 41% compared to the retrospective cohort (68.4% vs 48.4%, p < 0.01).ConclusionsA computer model that accurately captures the dynamics of neonatal metabolism can provide safe and effective blood glucose control without increasing hypoglycemia.Trial registrationClinicalTrials.gov registration NCT01419873.

Project description:ObjectiveThis study aimed to assess the morbidity and mortality patterns of preterm neonates with low birth weight admitted in the Amhara region referral hospitals in Ethiopia.DesignHospital-based retrospective follow-up study.SettingAmhara region referral hospitals, Ethiopia.ParticipantsA total of 291 preterm neonates low birth weight that were admitted to referral hospitals in the Amhara region between 1 January 2017 and 30 December 2018 were reviewed. Data were entered into Epi-data V.4.4.2.1 and exported to STATA V.14 for analysis, and variables with a p value of <0.05 at 95% confidence level in multivariable logistic regression model analysis were declared as statistically significant associated factors of mortality.Primary outcomeMorbidity and mortality patterns in preterm low birthweight neonates.ResultsThis study revealed that 37.8% (95% CI 32.4% to 43.5%) of preterm low birthweight neonates died. The most common morbidities found were 219 (75.26%) hypothermia, followed by 201 (69.07%), 145 (49.83%), 39 (13.4%) and 24 (8.25%) with sepsis, respiratory distress, jaundice and congenital anomalies, respectively. Sepsis (AOR: 2.0; 95% CI 1.03 to 3.89), respiratory distress (AOR: 4.6; 95% CI 2.51 to 8.40), hypoglycaemia (AOR 3.91; 95% CI 1.09 to 10.52), APGAR score at fifth minute <7 (AOR 0.39; 95% CI (0.18 to 0.82) and duration of hospital stay below mean (<9.82 days) (AOR 0.17; 95% CI 0.09 to 0.33) were associated with mortality.ConclusionThe mortality rate of preterm low birthweight neonates was high, indicating that this is a public health issue. Hypothermia, sepsis, respiratory distress, jaundice and congenital anomalies were the common morbidities. Sepsis, respiratory distress, hypoglycaemia, Apgar score at fifth minute <7 and duration of hospital stay below the mean were independent factors of mortality. However, these need to be further investigated in future research and appropriately addressed using prospective follow-up.

Project description:BackgroundOptimal feeding of very low birthweight (VLBW <1500 g)/very preterm (gestation <32 weeks) infants in resource-limited settings in sub-Saharan Africa (sSA) is critical to reducing high mortality and poor outcomes.ObjectiveTo review evidence on feeding of VLBW/very preterm infants relevant to sSA.MethodsWe searched the Cochrane Database of Systematic Reviews, Embase, PubMed and Cumulative Index to Nursing and Allied Health Literature (CINAHL) from inception to July 2019 to identify reviews of randomised and quasi-randomised controlled trials of feeding VLBW/very preterm infants. We focused on interventions that are readily available in sSA. Primary outcomes were weight gain during hospital stay and time to achieve full enteral feeds (120 mL/kg/day). Secondary outcomes were growth, common morbidities, mortality, duration of hospital stay and cognitive development. Quality of evidence (QOE) was assessed using the Measurement Tool to Assess Systematic Reviews (AMSTAR2).ResultsEight systematic reviews were included. Higher feed volume of day 1 (80 mL/kg) reduced late-onset sepsis and time to full enteral feeds, and higher feed volume (up to 300 mL/kg/day) improved weight gain without adverse events (QOE: low-moderate). Rapid advancement of feeds (30-40 mL/kg/day) was not associated with harm. Breast milk fortification with energy and protein increased growth and with prebiotics increased growth and reduced duration of admission (QOE: low-very low) and did not result in harm. Evidence regarding feeding tube placement and continuous versus bolus feeds was insufficient to draw conclusions. We found no reviews meeting our selection criteria regarding when to start feeds, use of preterm formula, cup-and-spoon feeding or gravity versus push feeds and none of the reviews included trials from low-income countries of sSA.ConclusionsThe evidence base informing feeding of VLBW/very preterm babies in resource-limited settings in sSA is extremely limited. Pragmatic studies are needed to generate evidence to guide management and improve outcomes for these highly vulnerable infants.Prospero registration numberCRD42019140204.

Dataset Information

Association of the FCN2 Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates.

Publications

Association of the <i>FCN2</i> Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates.

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