Human Milk Oligosaccharides: The Journey Ahead.

Breast milk is a complex biological fluid that is rich in nutrients and bioactive agents that support the healthy growth and development of the newborns. Human milk oligosaccharides (HMOs) are unconjugated glycans that constitute an important component of the protection conferred by breast milk on the neonate. HMOs may act locally on the neonatal intestine by acting as signalling molecules and directly interacting with the host cells.

A case of Griscelli syndrome.

A hallmark of Griscelli syndrome, a rare autosomal recessive disorder, is hair hypopigmentation characterized by a silver-gray sheen and the presence of large clusters of pigment unevenly distributed in the hair shaft. Either a primary neurological impairment or immune abnormalities are associated with this phenotype. We report the case of a 10-year-old child of consanguineous parents.

Cystic fibrosis presenting with persistent pneumonia --a case study of a 3-month-old adopted baby.

The diagnostic criteria for cystic fibrosis require the presence of 1 or more typical clinical features, a family history of cystic fibrosis, or a positive newborn screening test, plus laboratory evidence of the cystic fibrosis transmembrane conductance regulator dysfunction. However the present case was an adopted baby with persistent pneumonia since birth, his health had been deteriorating rapidly. He was becoming very listless, malnourished, and the whole family had lost all hope of the baby's survival.

Early diagnosis of co-existent ß-thalassemia and alkaptonuria.

Since the aggregate incidence of inborn errors of metabolism is relatively high, a high degree of suspicion is essential to correctly diagnose an inborn error of amino acid metabolism. We report a case of alkaptonuria an autosomal recessive disorder that occurs due to deficiency of homogentisic acid oxidasein a β-thalassemia infant presenting with reddish discoloration of nappies and clothes, breath holding spells, and microcytic hypochromic anemia. Born to consanguineous cousins, to our knowledge, the combination of β-thalassemia and alkaptonuria, which we have described in this baby, has not been reported earlier.

Congenital Hyperferritinemia Diagnosed in A 2 Month Old-A Case Report from India.

Background: In clinical medicine, ferritin is predominantly utilized as a serum marker of total body iron stores. In cases of iron deficiency and overload, serum ferritin serves a critical role in both diagnosis and management. Elevated serum and tissue ferritin are linked to coronary artery disease, malignancy, and poor outcomes following stem cell transplantation.

Non-01 Vibrio cholerae septicemia and meningitis in a neonate.

Non-O1 Vibrio cholerae is known to cause diarrhoea as well as extra-intestinal infections in adults and children. However meningitis in children is a rare occurrence. We report a neonate who developed septicemia and meningitis due to Non-O1 Vibrio cholerae.