Pediatrics and Neonatology

Biography

Viveka Singh, is an accredited Pediatrician and Neonatologist whose areas of expertise include newborn intensive care and pediatrics. Her areas of interest include neonatal and pediatric intensive care, neonatal hemodynamics, point of care neonatal ultrasound and functional echocardiography, pediatric allergy and asthma. Expert guidance provided by her mentor, Dr Amit Nigade, along with the team of specialist doctors, had immensely helped her in formulating the report. It adds another case of this rare pathology that highlights its clinical presentation, excellent prognosis provided by prompt surgical treatment and successful neonatal outcomes.

Abstract

A rare case of sacrococcygeal teratoma in a neonate

Viveka Singh¹, Sandip Bandewar¹, Amit Nigade¹, Pranav Jadhav²

¹Department of Neonatology, ²Department of Pediatric Surgery, Cloudnine Hospital [Kalyani Nagar Branch], Pune, India.

ABSTRACT

Sacrococcygeal teratomas [SCT] are uncommon germ cell neoplasms which develop in fetal life and present as a large mass extending from sacrum in neonatal period. Diagnosis is established by prenatal ultrasound [USG]. A close antenatal observation is necessary to look for fatal complications. Non vascular tumors and those less than 10 cm in diameter may be delivered vaginally. Perinatal morbidity and mortality are associated with this defect. Associated anorectal and genital malformations should be ruled out. Differentiation from myelocystocele or myelomeningocele is crucial. It is essential to perform USG and computed tomography [CT] or magnetic resonance imaging [MRI] postnatally to identify the extent of tumor. Management requires an interdisciplinary liaison between obstetrician, neonatologist and surgeon. Early complete surgical resection of tumor with coccygectomy is the treatment of choice to prevent recurrence. Excised mass is classified as mature, immature and malignant tumor based on histopathology.  Mature and immature teratomas have good prognosis while malignant teratoma have a tendency to recur and metastasize. Close follow up with rectal examination, alpha feto-protein level and diagnostic imaging are advisable. We report a rare case of mature SCT presenting with a large sacrococcygeal swelling at birth. This case highlights its clinical presentation and excellent prognosis provided by prompt surgical treatment.  This case would be one of the few cases reported from India.

BIOGRAPHY

Viveka Singh, is an accredited Pediatrician and Neonatologist whose areas of expertise include newborn intensive care and pediatrics. Her areas of interest include neonatal and pediatric intensive care, neonatal hemodynamics, point of care neonatal ultrasound and functional echocardiography, pediatric allergy and asthma. Expert guidance provided by her mentor, Dr Amit Nigade, along with the team of specialist doctors, had immensely helped her in formulating the report. It adds another case of this rare pathology that highlights its clinical presentation, excellent prognosis provided by prompt surgical treatment and successful neonatal outcomes.

Biography

Ismael Lares Asseff is a researcher at the National Polytechnic Institute, CIIDIR-Durango Unit. His areas of interest include Pharmacokinetics and Pharmacogenomics in Vulnerable Groups, Personalized Pharmacotherapy in High-Risk Patients, Clinical and Molecular Epidemiology

Abstract

Impact of single-nucleotide variants and nutritional status on population pharmacokinetics of Doxorubicin, and its effect on cardiotoxicity in children with leukaemia

Ismael Lares Asseff, National Polytechnic Institute, CIIDIR-Durango Unit, Mexico.

Abstract

Purpose: Doxorubicin is an important antineoplastic agent with wide interindividual variability in response to treatment GQ5 and in its cardiotoxic effects. To determine the effect of genotypic status of three single-nucleotide variants in ABCC1, NCF4, and CBR3 genes and nutritional status assessed by body mass index, on the population pharmacokinetics of Doxorubicin and its cardiotoxic effects in pediatric patients with leukaemia.

Patients and methods: Seventy pediatric patients treated with Doxorubicin were studied, in which 189 biological samples were obtained to determine Doxorubicin concentrations (1 to 3 samples per patient) at different times, for 20 h. Results: Low body mass index and age ≤ 7 years were associated with decreased clearance of Doxorubicin, and female gender was associated with increased clearance of Doxorubicin. Low BMI and low height were associated with a decrease and increase, respectively, in the inter-compartmental clearance (Q) of Doxorubicin. TT homozygosity of the single- nucleotide variant rs3743527 of the ABCC1 gene was associated with an increase in clearance and decreased area under the curve, AA homozygosity of the single-nucleotide variant rs1883112 of the NCF4 gene was associated with a decrease in the volume of distribution in the peripheral compartment (V2), and GG homozygosity of CBR3 rs1056892 with increasing area under the curve.

Conclusion: Some covariates studied are directly related to the increase or decrease of the pharmacokinetic parameters of Doxorubicin. Decreased clearance, V2, and increased area under the curve were associated with systolic dysfunction, and decreased Q and V2 were associated with diastolic dysfunction. These results may contribute to the effective and safe use of Doxorubicin in pediatric patients with leukaemia.

Biography:

Ismael Lares Asseff is a researcher at the National Polytechnic Institute, CIIDIR-Durango Unit. His areas of interest include Pharmacokinetics and Pharmacogenomics in Vulnerable Groups, Personalized Pharmacotherapy in High-Risk Patients, Clinical and Molecular Epidemiology