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.

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.

Neonatal perforated appendicitis: a presentation of necrotising enterocolitis?

In this case report, we present a late preterm growth-restricted neonate who developed signs of feeding intolerance on the second day of life, which progressed to frank peritonitis with perforation by the end of the second week of life. As necrotising enterocolitis was considered the most likely diagnosis, a glove drain was placed in the flanks. The neonate did not improve, and surgical exploration was done after medical stabilisation. On exploration, the neonate was found to have appendicular perforation and an appendicectomy was performed. During surgery, the rest of the gut was noted to be healthy. Histopathological examination of the appendix showed transmural inflammation, focal infarction and perforation. The postoperative period was uneventful, and the neonate showed rapid improvement and reached full enteral feeding in the next 5 days. Antibiotic therapy promptly resolved bacterial peritonitis, and the neonate was discharged successfully.

A study on periconceptional folic acid supplement intake and serum folic acid levels in pregnant mothers.

Background: Survey-based studies have examined the timing of receiving periconceptional folic acid supplementation. To assess the impact of the periconceptional folic acid supplementation, a postulate that multigravida mothers are more likely to have received the supplementation and the level of serum folic acid in them assayed during the first trimester is likely to be higher than primigravida mothers was put forth. Serum folic acid levels were measured in primigravida and multigravida mothers during the first trimester. Methods: One hundred twenty primigravida and multigravida mothers registered at antenatal clinic of a tertiary care referral centre were included. Serum folic acid assay from samples collected during the first trimester was carried out by chemiluminescence immuneassay. The mothers were followed up during subsequent OPD visits, during admission for delivery and through mobile phones for assessing the delivery outcomes. World Health Organization cutoff values for serum folic acid were used to analyse the results. Results: None of the mothers received folic acid supplement before conception. Mean interval from last menstrual period to receiving the first dose of folic acid supplementation was 71.2 days in primigravida and 67.6 days in multigravida mothers. Overall, 21/120 (17.5%) of primigravida mothers and 34/120 (28.3%) of multigravida mothers had serum folic acid values less than 6 ng/ml (deficiency and possible deficiency). Conclusion: None of the mothers received folic acid supplements before conception. Significant proportion of mothers, particularly the multigravida having less than normal levels serum folic acid indicates correctable lacunae amenable for preventive intervention.

Neurosurgical Outcomes, Protocols, and Resource Management During Lockdown: Early Institutional Experience from One of the World's Largest COVID 19 Hotspots.

BACKGROUND: As the COVID-19 pandemic surpasses 1 year, it is prudent to reflect on the challenges faced and the management strategies employed to tackle this overwhelming health care crisis. We undertook this study to validate our institutional protocols, which were formulated to cater to the change in volume and pattern of neurosurgical cases during the raging pandemic. METHODS: All admitted patients scheduled to undergo major neurosurgical intervention during the lockdown period (15 March 2020 to 15 September 2020) were included in the study. The data involving surgery outcomes, disease pattern, anesthesia techniques, patient demographics, as well as COVID-19 status, were analyzed and compared with similar retrospective data of neurosurgical patients operated during the same time period in the previous year (15 March 2019 to 15 September 2019). RESULTS: Barring significant increase in surgery for stroke (P = 0.008) and hydrocephalus (P <0.001), the overall case load of neurosurgery during the study period in 2020 was 42.75% of that in 2019 (P < 0.001), attributable to a significant reduction in elective spine surgeries (P < 0.001). However, no significant difference was observed in the overall incidence of emergency and essential surgeries undertaken during the 2 time periods (P = 0.482). There was an increased incidence in the use of monitored anesthesia care techniques during emergency and essential neurosurgical procedures by the anesthesia team in 2020 (P < 0.001). COVID-19 patients had overall poor outcomes (P = 0.003), with significant increase in mortality among those subjected to general anesthesia vis-a-vis monitored anesthesia care (P = 0.014). CONCLUSIONS: Despite a significant decrease in neurosurgical workload during the COVID-19 lockdown period in 2020, the volume of emergency and essential surgeries did not change much compared with the previous year. Surgery in COVID-19 patients is best avoided, unless critical, as the outcome in these patients is not favorable. The employment of monitored anesthesia care techniques like awake craniotomy and regional anesthesia facilitate a better outcome in the ongoing COVID-19 era.

Prevalence of Asymptomatic Microalbuminuria in HIV Positive Children in India.

OBJECTIVE: To study the prevalence of covert or early renal involvement among human immunodeficiency virus (HIV) positive children. METHODS: A cross-sectional observational study was carried out on 250 HIV positive children (2-18 y) on follow-up in a tertiary care hospital from January 2014 through June 2015. Those who met the study criteria were evaluated for microalbuminuria and glomerular and tubular dysfunctions. RESULTS: Fifty-one out of two hundred fifty (20%) children were found to have microalbuminuria though none had any other evidence of renal dysfunction. The incidence of microalbuminuria in children on Anti Retroviral Therapy (ART) and those not on ART was 20% and 21% respectively. Neither was there any difference in those with a CD4 count ≤500/cu mm compared with those with counts >500/cu mm. However, the overall CD4 counts were significantly lower in children with microalbuminuria. CONCLUSIONS: Microalbuminuria was detected in 20% of asymptomatic HIV positive children suggesting early glomerular dysfunction and need for regular screening and follow-up.

Bedside Infant Manikins for Teaching Newborn Examination to Medical Undergraduates.

OBJECTIVE: To study whether using infant manikins during clinical posting could help in teaching newborn examination to undergraduate medical students. METHODS: 111 final MBBS students were taught newborn examination either by the new method which included practice on infant manikins at the bedside before examining babies (Group 1) or by the traditional method which involved directly examining babies (Group 2). They were tested the next day by validated OSCE stations on important aspects of the newborn examination. Marking was done as 0 (completely incorrect), 1 (partially correct) or 2 (completely correct). Student feedback was also taken. RESULTS: Scores were higher, with lesser variance, in Group 1. Student feedback was positive, favoring the new method. CONCLUSION: Use of infant manikins at the bedside during clinical posting improves the performance of undergraduate students in newborn examination.

Behavioral response to pain in drowsy and sleeping neonates: a randomized control study.

In a randomized controlled design, 100 healthy, term neonates in the first week of life, undergoing heel prick for routine screening were randomized to receive a heel prick in either the drowsy/sleeping state or the awake (but not fussy or crying) state. 48 babies in sleeping or drowsy states and 47 in the awake states were analyzed. Infants in the drowsy/sleeping states scored significantly lower on the Neonatal Infant Pain Score (NIPS) (median score 5) at 30 seconds post stimulus compared with infants in higher states of alertness (median score 6). They also had a shorter total duration of cry (29.17 sec ± 8.95 vs 32.67 sec ± 9.82). However, there was no difference in the NIPS score between the two groups at 45 seconds post stimulus. We concluded that babies in the drowsy/sleeping states of alertness at the time of a painful stimulus appear to show a less intense behavioral response to pain as compared to those in the awake state.

Role of prophylactic surfactant in preterm infants.

BACKGROUND: Respiratory distress syndrome (RDS) in preterm neonates is caused by a deficiency or dysfunction of pulmonary surfactant. The physiological function of surfactant includes the ability to lower surface tension, as well as the ability to rapidly adsorb and spread. A wide variety of surfactant products have been formulated and studied in clinical trials. The present study was designed to find out whether prophylactic administration of surfactant leads to a significant decrease in the risk of neonatal mortality and neonatal morbidity. METHODS: This was an experimental study in which a total of 125 preterm newborns less than 34 weeks gestation were studied. One hundred preterm newborns (controls) less than 34 weeks gestation were managed in the conventional manner as per the existing protocols in the neonatal intensive care unit. Twenty-five consecutively delivered preterm newborns less than 34 weeks gestation were administered surfactant. Data regarding clinical outcomes including mortality and morbidity profile was collected and analysed. RESULTS: The mean duration of ventilation in the ventilated babies in the control group and the surfactant group was 129.8 ± 43 hours and 85.7 ± 46 hours, respectively; the difference being statistically significant. In the surfactant group, four babies (16%) died and in the control group, 27 babies (27%) died. The difference was not statistically significant. The number of babies developing retinopathy of prematurity and needing laser treatment for retinopathy of prematurity was greater in the surfactant group. CONCLUSION: Prophylactic administration of surfactant in preterm newborns of gestational age < 34 weeks is associated with a significant decrease in mean duration of ventilation and an increase in the incidence of retinopathy of prematurity.

A comparative study of nonpharmacological methods to reduce pain in neonates.

A randomized study was done to compare non pharmacological methods to reduce the pain of heel pricks in 104 stable term neonates. Non-nutritive sucking (NNS), rocking, massage, sucrose (20 percent), distilled water (DW) and expressed breast milk (EBM) were used as pain reducing agents. Duration of cry and Douleur Aiguë du Nouveau né (DAN) score were used to assess pain. Physiological parameters were also recorded before and after the stimulus. At 30 seconds after the stimulus, the pain scores were lowest in the sucrose group but this was not sustained at 1, 2 and 4 minutes. At 2 and 4 minutes pain scores were lowest in the NNS and rocking groups as compared to sucrose, distilled water, expressed breast milk and massage. The total duration of crying was also lowest in the NNS and rocking groups. Physiological parameters were comparable in all groups. Babies who were in Prechtl State 1 and 2 (sleeping) at the time of stimulus showed significantly lesser response to pain compared to babies who were awake. This was seen in all the intervention groups. In conclusion, our study suggests that rocking or giving a baby a pacifier are more effective non-pharmacological analgesics than EBM, DW, sucrose or massage for the pain of heel pricks in neonates. A calm or sleeping state before a painful procedure also appears to decrease crying and pain scores.

Urban slum-specific issues in neonatal survival.

Urbanization is rapidly spreading throughout the developing world. An urban slum poses special health problems due to poverty, overcrowding, unhygienic surroundings and lack of an organized health Infrastructure. The primary causes of neonatal mortality are sepsis, perinatal asphyxia and prematurity. Home deliveries, late recognition of neonatal illness, delay in seeking medical help and inappropriate treatment contribute to neonatal mortality. Measures to reduce neonatal mortality in urban slums should focus on health education, improvement of antenatal practices, institutional deliveries, and ensuring quality perinatal care. Success of a comprehensive health strategy would require planned health infrastructure, strengthening and unification of existing health care program and facilities; forming a system of referral and developing a program with active participation of the community.