A case report of hereditary spherocytosis (HS): Approach to diagnosis and management of HS

Hereditary spherocytosis (HS) is a type of congenital hemolytic anemia, in which heterogeneous alterations in one of the six genes that encode for proteins involved in vertical associations which tie the red blood cell (RBC) membrane skeleton to the lipid bilayer causes dysfunction or deficiency of cell membrane protein resulting in spherical-shaped, hyper-dense, and poorly deformable RBCs with a shortened life span. We report a case of HS in a 2-month-old female who presented with severe anemia, jaundice, and hepatosplenomegaly. The peripheral blood smear showed spherocytosis and reticulocytosis. The osmotic fragility was positive and direct antiglobin test was negative. The osmotic fragility test and direct antiglobulin test were positive. She was managed with packed RBCs (PRBCs) transfusion and folic acid supplementation

Spurious thrombocytopenia in the mother and baby – A red herring clinical entity

Spurious thrombocytopenia or pseudothrombocytopenia (PTCP) is an important clinical entity, in which the presence of autoantibodies or anticoagulants used during blood sampling causes in vitro clumping of platelet and thereby resulting in a falsely low automated platelet count. The most common cause of platelet clumping is ethylenediaminetetraacetic acid used as an anticoagulant in the blood samples. The other reasons for PTCP include the presence of autoantibodies such as cold agglutinin, giant platelet, and platelet satellitism. There are very few cases of spurious thrombocytopenia in the newborn period published in the literature. We are reporting a case of PTCP due to platelet satellitism in a baby born to a mother with a similar condition

Bilateral choanal atresia – An unusual case of severe respiratory distress in a newborn without nasal flaring

Respiratory distress in a newborn can be due to various causes and some need active intervention. Choanal atresia (CA) is a rare congenital anomaly with its incidence estimated to be 1 case/5,000–8,000 births. It is characterized by narrowing or blockage of the nasal passages. It is important to make an early clinical diagnosis with emphasis on timely management as it can be life-threatening. The pediatrician may be not able to pass a feeding tube through the neonate’s nostril even on repeated attempts. Detailed evaluation should be performed for the CHARGE association. High-resolution computed tomography can aid the diagnosis and transnasal endoscopic surgery is the preferred treatment modality. Here is a case report of a term neonate born with severe respiratory distress who was diagnosed to have bilateral CA on evaluation and managed with nasal endoscopic surgery.

The integrated effect of moderate exercise on coronary heart disease

Background: Moderate exercise is associated with a lower risk for coronary heart disease (CHD). A suitable integrated model of the CHD pathogenetic pathways relevant to moderate exercise may help to elucidate this association. Such a model is currently not available in the literature.Methods: An integrated model of CHD was developed and used to investigate pathogenetic pathways of importance between exercise and CHD. Using biomarker relative-risk data, the pathogenetic effects are representable as measurable effects based on changes in biomarkers.Results: The integrated model provides insight into higherorder interactions underlying the associations between CHD and moderate exercise. A novel 'connection graph' was developed, which simplifies these interactions. It quantitatively illustrates the relationship between moderate exercise and various serological biomarkers of CHD. The connection graph of moderate exercise elucidates all the possible integrated actions through which risk reduction may occur.Conclusion: An integrated model of CHD provides a summary of the effects of moderate exercise on CHD. It also shows the importance of each CHD pathway that moderate exercise influences. The CHD risk-reducing effects of exercise appear to be primarily driven by decreased inflammation and altered metabolism

Perinatal mortality rate in a south Indian population.

Perinatal mortality rate was assessed for 13964 consecutive births in SAT Hospital, Trivandrum, South India, during a period of one year. The overall perinatal mortality rate was 42.75, stillbirth rate 24.41 and early neonatal mortality rate 18.79. The perinatal mortality rate in multiple pregnancy was 156.65. Preventable causes of perinatal mortality still make a major contribution to perinatal deaths in developing countries.