Clinical features and septic screen in neonatal sepsis in a teaching hospital in India

Background: Sepsis remains a leading cause of mortality and morbidity, especially during the first five days of life and in low and middle-income countries. The purpose of this study was to note the clinical features and analyze the relationship between the septic screen and blood culture positive sepsis in the neonatal unit.Methods: A one-year descriptive cross-sectional study was carried out at the NICU of a teaching hospital in India.Results: The incidence of clinically suspected septicemia was 19.3 per 1000 live births and the incidence of blood culture positive septicemia was 2.9 per 1000 live births among the inborn of the hospital. The most common clinical features were poor suck and lethargy in culture positive sepsis. The most common organisms causing sepsis were Coagulase negative staphylococci and Klebsiella. In the septic screen CRP was found to have a statistically significant association with blood culture positive sepsis. CRP also had the highest sensitivity and negative predictive value among the studied parameters.Conclusions: Incidence of blood culture positive sepsis was 2.9 per 1000 live births among the inborn of the hospital. The most common clinical features were poor suck and lethargy in culture positive sepsis. The most common organism isolated in neonatal sepsis in the NICU was Coagulase negative staphylococcus. In resource poor settings, CRP continues to be an important tool in diagnosis and treatment of neonatal sepsis.

Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children

Objective: To assess the utility of computer-aided facial analysis in identifying dysmorphicsyndromes in Indian children. Methods: Fifty-one patients with a definite molecular orcytogenetic diagnosis and recognizable facial dysmorphism were enrolled in the study andtheir facial photographs were uploaded in the Face2Gene software. The results provided bythe software were compared with the molecular diagnosis. Results: Of the 51 patients, thesoftware predicted the correct diagnosis in 37 patients (72.5%); predicted as the first in thetop ten suggestions in 26 (70.2%). In 14 patients, the software did not suggest a correctdiagnosis. Conclusions: Computer-aided facial analysis is a method that can aid indiagnosis of genetic syndromes in Indian children. As more clinicians start to use thissoftware, its accuracy is expected to improve.

Metatropic Dysplasia with a Novel Mutation in TRPV4.

Back ground: Metatropic dysplasia is a skeletal dysplasia characterized by rhizomelia, severe kyphoscoliosis and a coccygeal tail. Case characteristics: A 12 day-old male neonate had facial dysmorphism, short limbs and coccygeal tail and showed radiological features of metatropic dysplasia. Observation: A novel heterozygous variant was observed in TRPV4 gene. Message: We report a novel mutation in an Indian neonate with metatropic dysplasia.

Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum.

Objective: To study the clinical profile and mutation spectrum of Hunter syndrome. Methods: Evaluation of 18 cases of Hunter syndrome from 17 families was done. Mutation analysis of Iduronate sulfatase (IDS) gene was done in 9 families, and mothers of four affected children with no family history. Results: Joint contracture, hepatomegaly and radiological changes were present in all children. 6 (33%) children had normal cognitive function at presentation. Point mutations were identified in all the 9 families for whom mutation analysis was done. Among 4 mothers tested from families without any family history, 2 (50%) were found to be carriers. Conclusion: Accurate etiological diagnosis by mutation analysis of IDS gene is important in Hunter syndrome.