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Background Demographic and biochemical variations in newborn children as compared to adults are attributable to variable prognosis to blood transfusions. Aims of this mixed cohort study of Platelets with/without Plasma (PLT/PZ); only Plasma (PZ) transfusions in ≤ 24 months children is as follows: An Association of demography towards hospital mortality, and an association of laboratory investigations (LI) with hospital mortality. Methods PLT/PZ ( n  = 72) and PZ ( n  = 79) children ≤ 24 months were followed up for a total length of hospital stay (LOS(D)). We calculated the Odds Ratio (OR) of demographic, and laboratory parameters for mortality, survival studies of demographic, laboratory parameters , Kaplan Meier Survival curve, Log-Rank significance (KMLR) and Multivariable regression ( r 2 ) with outcome as death. Results The present study is in 2019–2022. Higher OR for hospital-based mortality for PLT/PZ and PZ cohort were age ≤ 1 m, weight ≤ 1500 g, preterm, gestational age ≤ 34 weeks, hospital length of stay {LOS(D)} 0–7 days, APGAR score ≤ 5, and Hb ≤ 7 g/dl. High OR, mortality was observed with Female gender, Length of stay before first transfusion {LOS(F)}, 0-7d, WHO Grade of bleeding (GOB) 4, PT >50 sec, INR >1·7, aPTT >75sec, PLT counts (μl) ≤25000/μl (PLT/PZ) and GOB 3, 4 (PZ). Higher OR for mortality was also observed with a lower derangement of coagulative parameters PT ≤50s, INR ≤1·7, aPTT ≤75s (PZ). Higher survival was observed for (PLT/PZ) LOS(F) 0–7 days across age (m), weight (g) ( P  = 0·002; < 0·01), and INR  ≤ 1·7; aPTT  ≤ 75 s across LOS(D) ( P  < 0·01,0·018); (PZ) LOS(D) ≤ 7 days across age (m) and weight (g) ( P  = 0·036, 0·001); and GOB across LOS(D) (PLT/PZ; PZ) ( P  = 0·052, 0·005). Demography (PLT/PZ) r 2  = 50·36% ( P  = 0·021), laboratory investigations r 2  = 10·44% ( P  = 0·47), LOS(F) ( P  = 0·010), LOS(D) ( P  = 0·003), and GOB ( P  = 0·03) were the predictors. Demography (PZ) r 2 ( P  = 0·095), investigations r 2  = 8·79% ( P  = 0·254), LOS(D) ( P  = 0·026), and GOB ( P  = 0·012) were the predictors. Conclusions PLT/PZ, demographic parameters, were significant cause of mortality with LOS(F), LOS(D), and GOB as predictors. PZ, demography attributed to mortality with LOS(D), and GOB as predictors. A higher OR of morality with lower derangement of laboratory profile is indicative of unnecessary transfusions in the age group. Laboratory investigations by themselves are not significant predictors of mortality.

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neonatal hypotonia, feeding difficulties and hypogonadism. Early diagnosis is crucial but often delayed, as initial features may mimic birth asphyxia or sepsis, especially in resource-limited settings. We report a term male infant, small for gestational age, who presented with respiratory distress, stupor and hypotonia. Birth asphyxia and sepsis were excluded based on normal cord gases, a negative sepsis screen and the clinical course. Thyroid function and cranial ultrasound were normal. Antenatal polyhydramnios and growth restriction, along with persistent hypotonia, poor suck and bilateral cryptorchidism, raised early suspicion of PWS. On day 5, worsening respiratory effort prompted a meningitis workup, which was negative. Methylation-specific multiplex ligation-dependent probe amplification (MLPA) confirmed a fully methylated MAGEL2/SNRPN region without 15q11.2-q13 deletion or duplication. In neonates with persistent hypotonia and hypogonadism, early genetic testing should be considered. MLPA enables definitive diagnosis of PWS in the neonatal period and guides early intervention.

Purpose The primary aim of this study is to ascertain whether early postnatal weight gain serves as an independent predictor for the severity of retinopathy of prematurity (ROP) in preterm infants. Method In this prospective observational study, 50 preterm infants (<34 weeks GA at birth or <2000 gm BW) in the Neonatal Care Unit were screened for ROP from June 2021 to June 2022. All infants were assessed weekly for postnatal weight gain during the first six weeks of life and the results were correlated with the severity of ROP. Result Out of 50 preterm infants, 25 (50%) developed ROP, and 25 (50%) had no ROP. Type 1 ROP was identified in two (8%) preterm infants. The mean gestational age and birth weight for the ROP group were 29.98 ± 1.80 weeks (SEM 95% CI) and 1161.32 ± 340.55 gm (SEM 95% CI), which were lower than those of the No ROP group, which had 31.94 ± 1.71 weeks (SEM 95% CI) and 1359.80 ± 313.52 gm (SEM 95% CI), respectively. The change in weight (grams) between the ROP and No ROP groups was statistically significant each week, except for the first week. However, for the first six weeks, no statistical correlation was found between Type 1 ROP and Type 2 ROP regarding weight change. Conclusion This study posits that postnatal weight gain, particularly evident in the fourth week, may be a pivotal factor in predicting the onset and severity of ROP in preterm infants. Further research and analysis are required to validate these findings and enhance our understanding of the relationship between postnatal growth patterns and ROP development.

BackgroundUnless a cutoff level of the parameters of newborn screening (NBS) is defined, a screening test's results would end in high recall rates and apprehensive parents. The study aimed to establish a cutoff level of the healthy term newborns.Materials and methodsThe study was a retrospective observational data analysis on a cohort of 1158 term newborns who underwent NBS in our institute. The percentile distribution of the NBS parameters was computed and the 99th percentile value was considered the new cutoff. For lower values, such as neonatal glucose 6-phosphate dehydrogenase (nG6PD) and neonatal biotinidase (nBIOT), low percentile values were regarded as new cutoff value.ResultsNeonatal thyroid stimulating hormone (nTSH), nG6PD, neonatal immunoreactive trypsinogen (nIRT), and nBIOT showed a wide variation in the distribution. Most newborns had neonatal galactose (nGAL), nIRT, and nBIOT values above the median. The 99th percentile value of nTSH was 14.5 mIU/L, and that of neonatal 17-hydroxyprogesterone (n17-OHP) was 43.7 nmol/L. The 1.0th percentile value for nG6PD was decreased to 2.18 IU/gHb. The new cutoff values for nBIOT, nIRT, neonatal phenylketonuria (nPKU) and nGAL were 48.59 U, 95.3 µg/L, 2.3 mg/dL and 15.9 mg/dL. The mean and median nTSH values did not significantly differ (p=0.99) in the first five days of birth. On the contrary, the study population depicted considerably raised levels of n17-OHP on day 3, followed by a sharp decrease (p=0.029). Similarly, nIRT displayed significant differences in the first five days (p=0.017).ConclusionUsing the 99th percentile values of the NBS parameters as the new cutoff levels might be beneficial in terms of the recall rates and cost burden.

The presence of polymorphic methylenetetrahydrofolate reductase (MTHFR) in mothers poses a risk for numerous detrimental outcomes in neonates. The present study investigated the association of maternal MTHFR A1298C and C677T single nucleotide polymorphisms (SNPs) with the clinical outcomes in their neonates. The cross-sectional study included 60 mothers and their neonates. Blood samples from mothers were analyzed for MTHFR A1298C and C677T SNP genotyping by real-time polymerase chain reaction. Clinical details of mothers and neonates were documented. Study groups were stratified based on wild, heterozygous, and mutant genotypes for the respective polymorphisms observed in mothers. Multinomial regression was applied for the association, followed by gene model formulation to estimate the impact of the genetic variants on the outcomes. The frequency percentages of mutant CC1298 and TT677 genotypes were 25% and 8.06%, respectively, and the mutant allele frequencies (MAF) were 42.5% and 22.5%. Percentages of adverse outcomes such as intrauterine growth restriction, sepsis, anomalies, and mortality were higher in neonates born to mothers with homozygous mutant genotypes. Maternal C677T MTHFR SNPs revealed a significant association with neonatal anomalies (p = 0.001). The multiplicative risk model depicted OR (95% CI) for CT vs. CC+TT as 3.0 (95% CI: 0.66-13.7), and for TT vs. CT+CC was 15 (95% CI: 2.01-112.12). The C677T SNP in mothers predicted a dominant model for neonatal death (OR (95% CI): 5.84 (0.57-60.03), p = 0.15), whereas the A1298C reported recessive model for 1298CC mothers (OR (95% CI): 11 (1.05-115.5), p = 0.02). Both the genotypes assumed a recessive model for adverse neonatal outcomes: OR (95%CI) for CC vs. AA+AC was 3.2 (0.79-12.9, p = 0.1), and for TT vs. CC+CT was 5.48 (0.57-175.7, p = 0.2). The risk for sepsis in neonates was nearly six times higher in those born from mothers with homozygous CC1298 and TT677 than in the wild and heterozygous variants. Mothers with C677T and A1298C SNPs are highly susceptible to adverse outcomes in their neonates. Hence, screening the SNPs during the antenatal period can purposefully serve as a better predictive marker, following which proper clinical management could be planned.

A female, term neonate, born via vaginal delivery to a G5P1D1A3 hypothyroid mother with a history of an elder sibling being homozygous for HSD17B4 mutation, diagnosed while working up his progressive neurological disorder and succumbing to the same. The family screening revealed that both parents were heterozygous carriers of the same mutation in the gene HSD17B4 . After genetic counselling, amniocentesis revealed the fetus to be having homozygosity for the same mutation. In view of precious pregnancy, normal antenatal scans and investigations, the pregnancy was continued, and baby was born with a birth weight of 2.65 kg and had a smooth perinatal transition. Parents were counselled regarding the course of the illness, possible complications and the need for regular follow-up. Ultrasound of the abdomen, pelvis and head was normal in the neonatal period. She was vaccinated as per the national schedule and gaining weight normally.

A term male baby was born vaginally to a primi mother. An antenatal ultrasound revealed polyhydramnios and a distended stomach in the baby. At birth, the baby had well-defined areas of peeling skin on the face and blisters on the forearm region. The abdominal X-ray revealed a single gastric bubble, which is consistent with pyloric atresia and needs surgery. Pyloroplasty was initially performed, but it was unsuccessful. Therefore, a feeding jejunostomy and gastrostomy were performed. However, the baby developed sepsis and septic shock and died at about 2 months of age. Skin biopsy revealed cleavage above the lamina densa, and genetic analysis indicated heterozygosity in ITGB4 exons 10 and 16, which are associated with epidermolysis bullosa junctionalis and pyloric atresia.

ObjectiveTo evaluate the role of prophylactic propranolol in the prevention of retinopathy of prematurity (ROP) in infants ≤32 weeks of gestational age and their visual outcome at 1 year of corrected gestational age.DesignRandomised double blind placebo controlled trial, parallel group nrolment with allocation ratio of 1:1.SettingsTwo level III neonatal intensive care units.Participants109 preterm neonates of ≤32 weeks of gestation with postnatal age ≤8 days old.Intervention Study group: Infants with gestational age between 26 and 32 weeks were started on propranolol prophylaxis (0.5 mg/kg/dose every 12 hours) on seventh completed day of life, till a corrected gestational age of 37 weeks or complete vascularisation of retina whichever was later. Control group infants received a placebo.Outcome measures Primary: ROP of all grades; Secondary: evaluation of complications due to propranolol, ROP needing treatment with laser and/or antivascular endothelial growth factor (anti-VEGF) and visual outcome at 12 months corrected age.ResultsProphylactic propranolol in the prescribed dose of 1 mg/kg/day showed a decreasing trend in the incidence of ROP (56.8% vs 68.6%; p=0.39), need for laser therapy (21.56% vs 31.37%; p=0.37), treatment with anti-VEGF (3.92% vs 15.68%; p=0.09) or visual outcomes at 1 year in the study and control groups, respectively, though these reductions were not statistically significant. Decreasing trends favouring propranolol in all other ROP-related outcomes were also noted in the study group.ConclusionsProphylactic propranolol in the prescribed dose of 1 mg/kg/day showed a decreasing trend in all outcomes of ROP though statistically not significant.Trial registration numberCTRI/2013/11/004131.