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Papers by prakash amboiram
Journal of Neonatology, Jan 9, 2024
Journal of Neonatology, Oct 9, 2023
Indian Journal of Pediatrics, Jan 3, 2024
Indian Journal of Pediatrics, Sep 13, 2016
Objectives To assess the spectrum of Magnetic Resonance Imaging (MRI) abnormalities among preterm... more Objectives To assess the spectrum of Magnetic Resonance Imaging (MRI) abnormalities among preterm babies at term equivalent age using objective scoring and to study the association among MRI variables. Methods Ninety-four preterm babies born at ≤32 wk of gestation and / or birth weight ≤ 1500 g at term equivalent age who underwent cranial MRI between April 2011 and August 2012 and the MRI interpreted by experienced radiologists were studied. In 2014, the MRI was retrospectively re-interpreted by the same radiologists using an objective scoring system described by Kidokoro. Spectrum of MRI abnormalities, their association with perinatal variables and correlation among white matter (WM), grey matter and cerebellar scores were analyzed. Results MRI abnormalities observed were WM signal abnormality (24 %), lateral ventricular dilatation (16 %), WM cystic abnormality (13 %), deep grey matter signal abnormality (9 %), cerebellar volume reduction (9 %) and deep grey matter volume reduction (8 %). Sepsis was significantly associated with occurrence of WM and cerebellar abnormalities (p < 0.05). WM scores did not show significant correlation with cortical grey matter and deep grey matter scores while cerebellar scores showed a weak positive correlation with WM (r = 0.33), cortical grey matter (r = 0.27) and deep grey matter scores (r = 0.22). Conclusions MRI abnormalities are common in preterm infants, with 60 % showing some abnormality at term equivalent age. Among perinatal characteristics, sepsis was identified as risk factor for WM and cerebellar injury. Grey matter abnormality occurs independent of WM abnormality. Cerebellar abnormalities appear to coexist with either WM or grey matter changes.
PubMed, 2022
In neonates with more than one clinical abnormalities, we always look for a unifying diagnosis th... more In neonates with more than one clinical abnormalities, we always look for a unifying diagnosis that explains the entire clinical presentation. In rare instances, two conditions can co-exist. Here, we report a neonate born out of consanguineous marriage presenting at 48 hours of life with microcephaly, encephalopathy, hypertonia. He had excessive weight loss, persistent hyperkalaemia, shock and elevated level of 17- hydroxyprogesterone. Steroids were started for adrenal insufficiency. Magnetic resonance imaging (MRI) of the brain revealed T2 hyperintensity of cerebral white matter, hypomyelination and parenchymal volume loss causing microcephaly. Clinical exome sequencing (CES) revealed a pathogenic homozygous missense variation of CYP21A2 gene responsible for congenital adrenal hyperplasia and also the presence of a homozygous missense variant of unknown significance (VUS) of VARS gene implicated in neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA). Baby was neurologically abnormal at discharge. In the setting of consanguinity, there is a possibility of two genetic conditions. Clinical exome sequencing test is useful in demystifying the diagnosis in complex clinical presentation.
Journal of Obstetric, Gynecologic, & Neonatal Nursing, Jul 1, 2022
Journal of Pediatric Nursing, 2023
Indian Journal of Pediatrics, Jun 22, 2022
Indian Journal of Pediatrics, Sep 25, 2021
To the Editor: We read with interest the review article published online regarding therapeutic hy... more To the Editor: We read with interest the review article published online regarding therapeutic hypothermia by Dr Krishnan et al. [1]. We would like to highlight that India has a high rate of perinatal asphyxia, and therapeutic hypothermia (TH) is the only best available evidence-based specific therapy. India is a vast country, known for its heterogeneity not only in the population characteristics but also in the medical care. Many researches done in India are published in high impact factor journals. With all this we would like to highlight certain concerns from the cited article and its implications.
Journal of Neonatology
Introduction Delayed cord clamping (DCC) is considered standard of practice in very preterm deliv... more Introduction Delayed cord clamping (DCC) is considered standard of practice in very preterm deliveries but could not be practiced in more than 50%, as they need resuscitation measures. We studied the effect of a novel technique of placental transfusion, gravity aided cord blood transfusion (GCT) in comparison to standard care in preterm <30 weeks of gestation on hemoglobin levels at 24 hours of life. Methods This randomized noninferiority trial was conducted in a tertiary care unit from September 2020 to June 2021 in South India. Preterm infants with gestational age (GA) <30 weeks were randomized to either GCT or standard care. GCT was performed by clamping the cord with maximal length immediately after birth, shifting the baby to radiant warmer and holding the whole length of the umbilical cord attached to the baby vertically upwards, allowing blood to drain by gravity while the steps of resuscitation were being performed simultaneously. Standard care was either DCC in vigoro...
Sudanese Journal of Paediatrics
Neonatal intensive care unit (NICU) admission increases parents' stress levels and it might b... more Neonatal intensive care unit (NICU) admission increases parents' stress levels and it might be even higher in the crisis of coronavirus disease 2019 (COVID-19) pandemic and lockdown. This study was done to identify the stress levels of parents of admitted neonates and the difficulties encountered in neonatal care and follow-up during the COVID-19 pandemic and lockdown. The Parental Stressor Scale (PSS:NICU) and Perceived Stress Scale (PeSS) were used to identify the stress levels of parents of admitted neonates. Online survey form with a structured questionnaire comprising PeSS and NICU:PSS was sent through messaging app (Google form) after informed consent. PSS score of 26 as high. A total of 118 parental responses (mother /father in 26, both in 46) for 72 admitted neonates, were obtained. The mean (SD) PeSS score was 19.7 (5.8%) and 92 (78%) had moderate stress while 11 (9%) had high stress. In NICU:PSS, sights-sounds and parental role had more median scores: 2.25 (1–3.75) and...
Journal of Indian Association of Pediatric Surgeons, Jun 24, 2022
BMJ Open Quality
ObjectiveTo reduce the incidence of metabolic bone disease (MBD) among very low birthweight (VLBW... more ObjectiveTo reduce the incidence of metabolic bone disease (MBD) among very low birthweight (VLBW) infants admitted to neonatal intensive care unit from baseline of 35% by 50% over 2 years by implementing a quality improvement (QI) initiative.MethodsA multidisciplinary QI team used evidence-based interventions and the healthcare improvement model to reduce MBD rate in VLBW infants. The specific interventions included routine enteral supplementation of calcium and phosphorus using Human Milk Fortifier (HMF) to expressed breast milk by day 14 of life (Plan/Do/Study/Act (PDSA) cycle 1), parenteral and early enteral supplementation of calcium and phosphorus (PDSA cycles 2 and 3). We included VLBW infants admitted within the study period at birth and excluded babies with congenital malformations, skeletal disorders and those who died before 2 weeks of age. Compliance with adding HMF by day 14, compliance with adding calcium and phosphorus in total parenteral nutrition (TPN) from day 1 of...
Pediatrics
BACKGROUND AND OBJECTIVES Hypoglycemia occurs in 5% to 15% of neonates in the first few days. A s... more BACKGROUND AND OBJECTIVES Hypoglycemia occurs in 5% to 15% of neonates in the first few days. A significant proportion requires admission for intravenous fluids. Dextrose gel may reduce admissions and mother-infant separation. We aimed to study the utility of dextrose gel in reducing the need for intravenous fluids. METHODS This stratified randomized control trial included at-risk infants with asymptomatic hypoglycemia. Study populations were stratified into 3 categories: small for gestational age (SGA) and intrauterine growth-restriction (IUGR), infants of diabetic mothers (IDM) and large for gestational age (LGA), and late preterm (LPT) neonates. Intervention group received dextrose gel followed by breastfeeding, and the control group (CG) received only breastfeeding. RESULTS Among 629 at-risk infants, 291 (46%) developed asymptomatic hypoglycemia; 147 (50.4%) in the dextrose gel group (DGG) and 144 (49.6%) in CG. There were 97, 98, and 96 infants in SGA/IUGR, IDM/LGA, and LPT cat...
Scientific Reports, 2022
In neonates, rotavirus (RV) infection is generally nosocomial. The control of rotaviral infection... more In neonates, rotavirus (RV) infection is generally nosocomial. The control of rotaviral infection within hospital settings is challenging due to prolonged shedding of the virus and contamination of the surrounding environment. There are few studies that have reported asymptomatic infection within neonates. In this study, neonates were screened for RV infection and possible clinical manifestations that may play a role in RV acquisition were analysed. Stool samples were collected from 523 hospitalized neonates admitted for > 48 h in a low-cost and higher-cost tertiary centre. RV antigen was screened using ELISA and the samples which tested positive were confirmed by semi-nested RT-PCR. RV was detected in 34% of participants and genotypes identified included G12P[11] (44.4%), G10 P[11] (42.6%), G10G12P[11] (10.1%) and G3P[8] (2.9%). ICU admissions were associated with higher viral shedding (p < 0.05). Hospitalization in the low-cost facility ICU was associated with higher RV acqu...
Indian Journal of Neonatal Medicine and Research, 2017
Chylous ascites is characterised by accumulation of lymph in the peritoneal cavity and is a recog... more Chylous ascites is characterised by accumulation of lymph in the peritoneal cavity and is a recognised complication of congenital diaphragmatic hernia repair. We report a case of neonatal chylous ascites that occurred as a complication of congenital diaphragmatic hernia repair and its successful nutritional management with a cost effective skimmed milk based preparation.
Background: Globally infections are the single most common cause of neonatal deaths. A report fro... more Background: Globally infections are the single most common cause of neonatal deaths. A report from India (National Neonatal-Perinatal Database - NNPD: 2002-03) showed incidence of sepsis was 30/1000 live births (LB). Pattern and antimicrobial susceptibility of organisms have kept on changing in the NICU. Objective: To identify common bacterial pathogens associated with neonatal sepsis in a tertiary care NICU and to determine their antibiotic susceptibility pattern. Design/Methods: Prospective descriptive study. Blood culture reports of culture positive neonatal sepsis admitted to Level III NICU in South India during January 2011-June 2012 were analyzed. Demographic data of the babies was collected. Results: Total 1924 blood cultures were done for in total 1924 blood cultures were done for babies with suspected clinical sepsis. The yield rate was 9.3% (n=179/1924). The incidence of culture proven sepsis was 24/1000 live births. Of all, 82% (n=148) were Gram-negative organism, 11% (n=...
European Journal of Medical Genetics, 2021
OBJECTIVES To study the utility of clinical exome sequencing (CES) using next generation sequenci... more OBJECTIVES To study the utility of clinical exome sequencing (CES) using next generation sequencing (NGS) in evaluating neonates with suspected genetic conditions. METHODS This is an observational study conducted in a tertiary care neonatal unit. We included neonates with suspected genetic conditions, for whom CES were done either by direct sampling or from stored DNA. Data was collected from the Sri Ramachandra centre of excellence in perinatal health (SCOPE) case records of 2016 to 2019. Yield of CES, percentage of pathogenic, non-pathogenic and variant of uncertain significance (VUS) and associated disorders were studied. RESULTS CES was done in 36 neonates. Variants were detected in 78% (28/36) . However , significant variants with clinical correlation were present in 20 (56%) babies. Test was carried out from the stored sample in 10 (28%) babies. Mean turn-around time was 39 ± 7 days. Specialists were involved in 1 and treatment changes were done in 5 neonates. Five out of 8 VUS were clinically correlating. Inborn errors of metabolism were the commonest (60%). Two VUS were ascertained as likely pathogenic after parental segregation analysis. CONCLUSION CES has a definite role in evaluation of suspected genetic conditions for diagnosis and prognostication . It also helps scientific society to build in additional evidence so that the "VUS" could be asserted as "likely pathogenic" . Our experience reiterates the importance of storing and archiving DNA of the affected child.
Paediatrics and International Child Health, 2021
Non-bilious vomiting in preterm neonates discharged from neonatal intensive care units is a commo... more Non-bilious vomiting in preterm neonates discharged from neonatal intensive care units is a common complaint and is often associated with benign conditions such as gastro-oesophageal reflux. A neonate of 27 weeks gestation who presented later with vomiting owing to gastric outlet obstruction is described. He was discharged at 11 weeks of age and required re-admission 1 week later. He had persistent non-bilious vomiting from 7 weeks of age, failure to thrive and metabolic alkalosis. Clinical examination demonstrated visible gastric peristalsis, and hypertrophic pyloric stenosis was suspected. Ultrasound of the gastric pylorus and upper gastro-intestinal contrast studies were negative. Exploratory laparotomy after failure of conservative management revealed a thickened mucosal fold in the gastric pylorus, which was excised. Histopathology demonstrated inclusion bodies which are pathognomonic of cytomegalovirus infection. He was treated with valganciclovir for 6 weeks and was asymptomatic and thriving well at follow-up. Gastric outlet obstruction can be one of the manifestations of CMV infection of the gastro-intestinal tract. Diagnosis can be confirmed only by histopathology.Abbreviations: BPD: bronchopulmonary dysplasia; CMV: cytomegalovirus; H&E: haematoxylin and eosin; IHC: immunohistochemistry; IHPS: infantile hypertrophic pyloric stenosis; NEC: necrotising enterocolitis; PCR: polymerase-chain reaction; VGP: visible gastric peristalsis.
Tropical Doctor, 2016
We report the first case of haemophagocytic lymphohistiocytosis (HLH) in a neonate secondary to p... more We report the first case of haemophagocytic lymphohistiocytosis (HLH) in a neonate secondary to primary Dengue virus infection. This neonate presented in the third week of life with fever, shock and hepatosplenomegaly and was diagnosed to have Dengue infection by serology and HLH was confirmed on bone marrow.
Journal of Neonatology, Jan 9, 2024
Journal of Neonatology, Oct 9, 2023
Indian Journal of Pediatrics, Jan 3, 2024
Indian Journal of Pediatrics, Sep 13, 2016
Objectives To assess the spectrum of Magnetic Resonance Imaging (MRI) abnormalities among preterm... more Objectives To assess the spectrum of Magnetic Resonance Imaging (MRI) abnormalities among preterm babies at term equivalent age using objective scoring and to study the association among MRI variables. Methods Ninety-four preterm babies born at ≤32 wk of gestation and / or birth weight ≤ 1500 g at term equivalent age who underwent cranial MRI between April 2011 and August 2012 and the MRI interpreted by experienced radiologists were studied. In 2014, the MRI was retrospectively re-interpreted by the same radiologists using an objective scoring system described by Kidokoro. Spectrum of MRI abnormalities, their association with perinatal variables and correlation among white matter (WM), grey matter and cerebellar scores were analyzed. Results MRI abnormalities observed were WM signal abnormality (24 %), lateral ventricular dilatation (16 %), WM cystic abnormality (13 %), deep grey matter signal abnormality (9 %), cerebellar volume reduction (9 %) and deep grey matter volume reduction (8 %). Sepsis was significantly associated with occurrence of WM and cerebellar abnormalities (p < 0.05). WM scores did not show significant correlation with cortical grey matter and deep grey matter scores while cerebellar scores showed a weak positive correlation with WM (r = 0.33), cortical grey matter (r = 0.27) and deep grey matter scores (r = 0.22). Conclusions MRI abnormalities are common in preterm infants, with 60 % showing some abnormality at term equivalent age. Among perinatal characteristics, sepsis was identified as risk factor for WM and cerebellar injury. Grey matter abnormality occurs independent of WM abnormality. Cerebellar abnormalities appear to coexist with either WM or grey matter changes.
PubMed, 2022
In neonates with more than one clinical abnormalities, we always look for a unifying diagnosis th... more In neonates with more than one clinical abnormalities, we always look for a unifying diagnosis that explains the entire clinical presentation. In rare instances, two conditions can co-exist. Here, we report a neonate born out of consanguineous marriage presenting at 48 hours of life with microcephaly, encephalopathy, hypertonia. He had excessive weight loss, persistent hyperkalaemia, shock and elevated level of 17- hydroxyprogesterone. Steroids were started for adrenal insufficiency. Magnetic resonance imaging (MRI) of the brain revealed T2 hyperintensity of cerebral white matter, hypomyelination and parenchymal volume loss causing microcephaly. Clinical exome sequencing (CES) revealed a pathogenic homozygous missense variation of CYP21A2 gene responsible for congenital adrenal hyperplasia and also the presence of a homozygous missense variant of unknown significance (VUS) of VARS gene implicated in neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA). Baby was neurologically abnormal at discharge. In the setting of consanguinity, there is a possibility of two genetic conditions. Clinical exome sequencing test is useful in demystifying the diagnosis in complex clinical presentation.
Journal of Obstetric, Gynecologic, & Neonatal Nursing, Jul 1, 2022
Journal of Pediatric Nursing, 2023
Indian Journal of Pediatrics, Jun 22, 2022
Indian Journal of Pediatrics, Sep 25, 2021
To the Editor: We read with interest the review article published online regarding therapeutic hy... more To the Editor: We read with interest the review article published online regarding therapeutic hypothermia by Dr Krishnan et al. [1]. We would like to highlight that India has a high rate of perinatal asphyxia, and therapeutic hypothermia (TH) is the only best available evidence-based specific therapy. India is a vast country, known for its heterogeneity not only in the population characteristics but also in the medical care. Many researches done in India are published in high impact factor journals. With all this we would like to highlight certain concerns from the cited article and its implications.
Journal of Neonatology
Introduction Delayed cord clamping (DCC) is considered standard of practice in very preterm deliv... more Introduction Delayed cord clamping (DCC) is considered standard of practice in very preterm deliveries but could not be practiced in more than 50%, as they need resuscitation measures. We studied the effect of a novel technique of placental transfusion, gravity aided cord blood transfusion (GCT) in comparison to standard care in preterm <30 weeks of gestation on hemoglobin levels at 24 hours of life. Methods This randomized noninferiority trial was conducted in a tertiary care unit from September 2020 to June 2021 in South India. Preterm infants with gestational age (GA) <30 weeks were randomized to either GCT or standard care. GCT was performed by clamping the cord with maximal length immediately after birth, shifting the baby to radiant warmer and holding the whole length of the umbilical cord attached to the baby vertically upwards, allowing blood to drain by gravity while the steps of resuscitation were being performed simultaneously. Standard care was either DCC in vigoro...
Sudanese Journal of Paediatrics
Neonatal intensive care unit (NICU) admission increases parents' stress levels and it might b... more Neonatal intensive care unit (NICU) admission increases parents' stress levels and it might be even higher in the crisis of coronavirus disease 2019 (COVID-19) pandemic and lockdown. This study was done to identify the stress levels of parents of admitted neonates and the difficulties encountered in neonatal care and follow-up during the COVID-19 pandemic and lockdown. The Parental Stressor Scale (PSS:NICU) and Perceived Stress Scale (PeSS) were used to identify the stress levels of parents of admitted neonates. Online survey form with a structured questionnaire comprising PeSS and NICU:PSS was sent through messaging app (Google form) after informed consent. PSS score of 26 as high. A total of 118 parental responses (mother /father in 26, both in 46) for 72 admitted neonates, were obtained. The mean (SD) PeSS score was 19.7 (5.8%) and 92 (78%) had moderate stress while 11 (9%) had high stress. In NICU:PSS, sights-sounds and parental role had more median scores: 2.25 (1–3.75) and...
Journal of Indian Association of Pediatric Surgeons, Jun 24, 2022
BMJ Open Quality
ObjectiveTo reduce the incidence of metabolic bone disease (MBD) among very low birthweight (VLBW... more ObjectiveTo reduce the incidence of metabolic bone disease (MBD) among very low birthweight (VLBW) infants admitted to neonatal intensive care unit from baseline of 35% by 50% over 2 years by implementing a quality improvement (QI) initiative.MethodsA multidisciplinary QI team used evidence-based interventions and the healthcare improvement model to reduce MBD rate in VLBW infants. The specific interventions included routine enteral supplementation of calcium and phosphorus using Human Milk Fortifier (HMF) to expressed breast milk by day 14 of life (Plan/Do/Study/Act (PDSA) cycle 1), parenteral and early enteral supplementation of calcium and phosphorus (PDSA cycles 2 and 3). We included VLBW infants admitted within the study period at birth and excluded babies with congenital malformations, skeletal disorders and those who died before 2 weeks of age. Compliance with adding HMF by day 14, compliance with adding calcium and phosphorus in total parenteral nutrition (TPN) from day 1 of...
Pediatrics
BACKGROUND AND OBJECTIVES Hypoglycemia occurs in 5% to 15% of neonates in the first few days. A s... more BACKGROUND AND OBJECTIVES Hypoglycemia occurs in 5% to 15% of neonates in the first few days. A significant proportion requires admission for intravenous fluids. Dextrose gel may reduce admissions and mother-infant separation. We aimed to study the utility of dextrose gel in reducing the need for intravenous fluids. METHODS This stratified randomized control trial included at-risk infants with asymptomatic hypoglycemia. Study populations were stratified into 3 categories: small for gestational age (SGA) and intrauterine growth-restriction (IUGR), infants of diabetic mothers (IDM) and large for gestational age (LGA), and late preterm (LPT) neonates. Intervention group received dextrose gel followed by breastfeeding, and the control group (CG) received only breastfeeding. RESULTS Among 629 at-risk infants, 291 (46%) developed asymptomatic hypoglycemia; 147 (50.4%) in the dextrose gel group (DGG) and 144 (49.6%) in CG. There were 97, 98, and 96 infants in SGA/IUGR, IDM/LGA, and LPT cat...
Scientific Reports, 2022
In neonates, rotavirus (RV) infection is generally nosocomial. The control of rotaviral infection... more In neonates, rotavirus (RV) infection is generally nosocomial. The control of rotaviral infection within hospital settings is challenging due to prolonged shedding of the virus and contamination of the surrounding environment. There are few studies that have reported asymptomatic infection within neonates. In this study, neonates were screened for RV infection and possible clinical manifestations that may play a role in RV acquisition were analysed. Stool samples were collected from 523 hospitalized neonates admitted for > 48 h in a low-cost and higher-cost tertiary centre. RV antigen was screened using ELISA and the samples which tested positive were confirmed by semi-nested RT-PCR. RV was detected in 34% of participants and genotypes identified included G12P[11] (44.4%), G10 P[11] (42.6%), G10G12P[11] (10.1%) and G3P[8] (2.9%). ICU admissions were associated with higher viral shedding (p < 0.05). Hospitalization in the low-cost facility ICU was associated with higher RV acqu...
Indian Journal of Neonatal Medicine and Research, 2017
Chylous ascites is characterised by accumulation of lymph in the peritoneal cavity and is a recog... more Chylous ascites is characterised by accumulation of lymph in the peritoneal cavity and is a recognised complication of congenital diaphragmatic hernia repair. We report a case of neonatal chylous ascites that occurred as a complication of congenital diaphragmatic hernia repair and its successful nutritional management with a cost effective skimmed milk based preparation.
Background: Globally infections are the single most common cause of neonatal deaths. A report fro... more Background: Globally infections are the single most common cause of neonatal deaths. A report from India (National Neonatal-Perinatal Database - NNPD: 2002-03) showed incidence of sepsis was 30/1000 live births (LB). Pattern and antimicrobial susceptibility of organisms have kept on changing in the NICU. Objective: To identify common bacterial pathogens associated with neonatal sepsis in a tertiary care NICU and to determine their antibiotic susceptibility pattern. Design/Methods: Prospective descriptive study. Blood culture reports of culture positive neonatal sepsis admitted to Level III NICU in South India during January 2011-June 2012 were analyzed. Demographic data of the babies was collected. Results: Total 1924 blood cultures were done for in total 1924 blood cultures were done for babies with suspected clinical sepsis. The yield rate was 9.3% (n=179/1924). The incidence of culture proven sepsis was 24/1000 live births. Of all, 82% (n=148) were Gram-negative organism, 11% (n=...
European Journal of Medical Genetics, 2021
OBJECTIVES To study the utility of clinical exome sequencing (CES) using next generation sequenci... more OBJECTIVES To study the utility of clinical exome sequencing (CES) using next generation sequencing (NGS) in evaluating neonates with suspected genetic conditions. METHODS This is an observational study conducted in a tertiary care neonatal unit. We included neonates with suspected genetic conditions, for whom CES were done either by direct sampling or from stored DNA. Data was collected from the Sri Ramachandra centre of excellence in perinatal health (SCOPE) case records of 2016 to 2019. Yield of CES, percentage of pathogenic, non-pathogenic and variant of uncertain significance (VUS) and associated disorders were studied. RESULTS CES was done in 36 neonates. Variants were detected in 78% (28/36) . However , significant variants with clinical correlation were present in 20 (56%) babies. Test was carried out from the stored sample in 10 (28%) babies. Mean turn-around time was 39 ± 7 days. Specialists were involved in 1 and treatment changes were done in 5 neonates. Five out of 8 VUS were clinically correlating. Inborn errors of metabolism were the commonest (60%). Two VUS were ascertained as likely pathogenic after parental segregation analysis. CONCLUSION CES has a definite role in evaluation of suspected genetic conditions for diagnosis and prognostication . It also helps scientific society to build in additional evidence so that the "VUS" could be asserted as "likely pathogenic" . Our experience reiterates the importance of storing and archiving DNA of the affected child.
Paediatrics and International Child Health, 2021
Non-bilious vomiting in preterm neonates discharged from neonatal intensive care units is a commo... more Non-bilious vomiting in preterm neonates discharged from neonatal intensive care units is a common complaint and is often associated with benign conditions such as gastro-oesophageal reflux. A neonate of 27 weeks gestation who presented later with vomiting owing to gastric outlet obstruction is described. He was discharged at 11 weeks of age and required re-admission 1 week later. He had persistent non-bilious vomiting from 7 weeks of age, failure to thrive and metabolic alkalosis. Clinical examination demonstrated visible gastric peristalsis, and hypertrophic pyloric stenosis was suspected. Ultrasound of the gastric pylorus and upper gastro-intestinal contrast studies were negative. Exploratory laparotomy after failure of conservative management revealed a thickened mucosal fold in the gastric pylorus, which was excised. Histopathology demonstrated inclusion bodies which are pathognomonic of cytomegalovirus infection. He was treated with valganciclovir for 6 weeks and was asymptomatic and thriving well at follow-up. Gastric outlet obstruction can be one of the manifestations of CMV infection of the gastro-intestinal tract. Diagnosis can be confirmed only by histopathology.Abbreviations: BPD: bronchopulmonary dysplasia; CMV: cytomegalovirus; H&E: haematoxylin and eosin; IHC: immunohistochemistry; IHPS: infantile hypertrophic pyloric stenosis; NEC: necrotising enterocolitis; PCR: polymerase-chain reaction; VGP: visible gastric peristalsis.
Tropical Doctor, 2016
We report the first case of haemophagocytic lymphohistiocytosis (HLH) in a neonate secondary to p... more We report the first case of haemophagocytic lymphohistiocytosis (HLH) in a neonate secondary to primary Dengue virus infection. This neonate presented in the third week of life with fever, shock and hepatosplenomegaly and was diagnosed to have Dengue infection by serology and HLH was confirmed on bone marrow.