Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant.

An infant was admitted with suspected postinfectious malabsorption with watery diarrhoea, fever and failure to thrive. She had dehydration, acute kidney injury and metabolic acidosis, which were corrected with intravenous fluids and managed with empiric antibiotics and prophylactic antifungals. She also developed Escherichia coli sepsis, meningitis and Candida skin infections during hospitalisation, which were treated according to the culture reports. Intrauterine growth restriction, woolly hair and a broad nasal bridge with chronic refractory diarrhoea prompted genetic testing to rule out syndromic diarrhoea. Whole-exome sequencing revealed a pathogenic compound heterozygous mutation causing trichohepatoenteric syndrome. She succumbed to severe infections at 80 days of life. The condition is rare, and no established guidelines or specific treatments exist; the focus is to promote optimal growth through parenteral nutrition, elemental formula and infection control. Early suspicion and molecular genetic testing can help reduce the time to diagnosis, treatment and genetic counselling.

Myocardial performance imaging for the early identification of cardiac dysfunction in neonates with sepsis.

PURPOSE: The assessment of cardiac performance in septic new-borns is crucial for detecting hemodynamic instability and predicting outcome. The aim of the study is to assess myocardial performance in neonates with sepsis for the early identification of cardiac dysfunction. PATIENTS AND METHODS: A case control study was carried out from September 2022 to May 2023 at the Neonatal Intensive care unit, Kasturba Medical College, Manipal. A total of 68 neonates were included in the study, with 33 females and 35 males. The study population was further subdivided into 3 groups namely preterm septic neonates (n = 21), term septic neonates (n = 10) and non-septic healthy controls (n = 37). The cardiac structure and function were assessed using conventional method, Tissue Doppler imaging (Sm) and speckle tracking echocardiography (GLS). The study was approved by the Institutional Ethics Committee at Kasturba Medical College, Manipal (approval number IEC: 90/2022). The CTRI registration number for the study is CTRI/2022/09/045437 and was approved on September 12, 2022. Prior to the neonate's enrolment, informed consent was obtained from their mothers or legal guardians. RESULTS: Out of the total 68 neonates, 31 were cases and 37 were controls which included 33 females and 35 males. LV systolic function was not statistically significant between cases and controls. E/A ratio of the mitral valve was significantly lower in septic newborns than in healthy neonates. (1.01 ± 0.35 vs 1.18 ± 0.31, p < 0.05) preterm neonates showed significantly lower Lateral E' and RV E' velocities than term neonates. TAPSE was significantly lower in septic preterm neonates. (8.61 ± 1.28 vs. 10.7 ± 2.11, p < 0.05) No significant difference was noted in the Myocardial Performance Index between septic neonates and healthy neonates. LV Global Longitudinal Strain was slightly lower in preterm septic neonates than in term neonates with sepsis. CONCLUSION: Septic newborns are associated with LV diastolic dysfunction, RV systolic dysfunction and substantially higher pulmonary systolic pressures.

Comparative Growth Outcomes in Very Low Birth Weight Infants: Evaluating Different Feeding Strategies.

OBJECTIVES: To assess the growth pattern of preterm, very low birth weight (VLBW) appropriate for gestational age (AGA) infants on three different feeding regimens. METHODS: This prospective open label three-arm parallel randomized controlled trial was conducted at neonatal intensive care unit, Kasturba Hospital, Manipal. One hundred twenty VLBW (weight between 1000-1500 g and gestational age 28-32 wk) preterm AGA infants admitted from April 2021 through September 2022 were included. Three feeding regimens were compared: Expressed breast milk (EBM); EBM supplemented with Human milk fortifier (HMF); EBM supplemented with Preterm formula feed (PTF). Primary outcome measure was assessing the growth parameters such as weight, length, head circumference on three different feeding regimens at birth 2, 3, 4, 5 and 6 wk/discharge. Secondary outcomes included incidence of co-morbidities and cost-effectiveness. RESULTS: Of 112 infants analyzed, Group 2 supplemented with HMF showed superior growth outcomes by 6th wk/discharge of intervention, with mean weight of 2053±251 g, mean length of 44.6±1.9 cm, and mean head circumference of 32.9±1.4 cm. However, infants in Group 3, supplemented with PTF, registered mean weight of 1968±203 g, mean length of 43.6±2.0 cm, and mean head circumference of 32.0±1.6 cm. Infants exclusively on EBM presented with mean weight of 1873±256 g, mean length of 43.0±2.0 cm and mean head circumference of 31.4±1.6 cm. CONCLUSIONS: Addition of 1 g of HMF to 25 ml of EBM in neonates weighing 1000-1500 g showed better weight gain and head circumference at 6 wk/discharge, which was statistically significant. However, no significant differences in these parameters were observed at postnatal or 2, 3, 4, and 5 wk.

Gastro-oesophageal reflux: rare presentation of Sotos syndrome in a neonate.

Sotos syndrome is a disorder characterised by distinctive facial features, excessive growth during childhood and intellectual disability. While these criteria apply to children and adults, they fall short when applied to neonates. Hyperbilirubinaemia, large for gestational age, hypotonia and seizures, along with cardiac and renal anomalies, are known to be common presentations in neonates. Reports have also added hyperinsulinaemic hypoglycaemia as a presenting feature of Sotos syndrome in neonates. Here, we report a case of Sotos syndrome in a neonate who presented in the neonatal period with recurrent apnoeic episodes with hypotonia, which were later attributed to severe gastro-oesophageal reflux.

Randomized Controlled Trial on the Effect of the Neonatal Nurse Navigator Program on Maternal Stress and Neonatal Cortisol Levels.

OBJECTIVE: To assess the effect of the Neonatal Nurse Navigator Program (NNNP) compared to usual care on maternal stress and neonatal salivary cortisol level (SCL) in the NICU. DESIGN: Randomized control trial. SETTING: NICU in a tertiary health care hospital in Manipal, Udupi District, Karnataka, India. PARTICIPANTS: Neonates between 34 and 36 weeks gestation and their mothers (N = 120 dyads). METHODS: We used block randomization to assign dyads to the intervention or control group. We measured maternal stress using the Parental Stress Scale: Neonatal Intensive Care Unit, and we estimated neonatal stress by measuring SCLs within 24 hours of NICU admission and before discharge from the unit. We conducted a descriptive analysis on participant characteristics and reported maternal stress levels using means and standard deviations. We used the analysis of covariance change score test to determine the difference in maternal and neonatal stress levels between the intervention and control groups. RESULTS: The NNNP group exhibited significantly lower maternal stress scores before discharge than the control group, and we observed reductions across all three subscales of the Parental Stress Scale: Neonatal Intensive Care Unit. Mean neonatal salivary cortisol levels were significantly lower in the interventional group than in the control group, F(1.117) = 24.03, 95% confidence interval [7.9, 18.6], p < .001. CONCLUSION: Use of the NNNP reduced maternal stress SCLs in high-risk neonates by actively engaging mothers in the care of their neonates in the NICU. We recommend adoption of the NNNP model as a standard care policy in NICUs throughout India.