Health Technology Use in Noncommunicable Disorders: Challenges and Opportunities in India

Health care in India is undergoing a rapid change from its historical focus on acute disease management to a focus more on chronic and continuous care-based model for noncommunicable disorders. Health technology could be a game changer as it has a potential to optimize costs and effectively manage such operations. IT solutions are likely to become an integral part of process management, patient care and the hospital management information system in future. This brief communication describes the key enablers and limitations of using health technology in chronic diseases in developing countries like India.

Type 2 diabetes mellitus: An unusual association with Down's syndrome.

Down’s syndrome (DS) is known to be associated with autoimmune disease including type 1 diabetes. To the best of our knowledge, there are no reports of DS with type 2 diabetes mellitus in the literature. We hereby report two cases of DS with type 2 diabetes.

Genetic analysis of a family with complete androgen insensitivity syndrome.

Androgen insensitivity causes impaired embryonic sex differentiation leading to developmental failure of normal male external genitalia in 46 XY genetic men. It results from diminished or absent biological actions of androgens, which is mediated by the androgen receptor (AR) in both the embryo and secondary sexual development. Mutations in the AR located on the X chromosome are responsible for the disease. Almost 70% of affected individuals inherit the mutation from their carrier mother. We hereby report a 10‑year‑old girl with all the characteristics of complete androgen insensitivity syndrome (CAIS). Similar scenario was observed in 3 maternal aunts, Sequencing of the AR gene in all the family members revealed C 2754 to T transition in exon 6. It was concluded that the C 2754 to T transition rendered the AR incapable of both ligand‑binding and activating the transcription and was the cause of CAIS in the patient.

Hirschsprung’s Disease with Congenital Hypothyroidism.

We report a female newborn baby who presented with vomiting and abdominal distension on day 21 of life. Examination revealed facial puffiness, open posterior fontanelles, dry skin, cold peripheries and prominent abdominal veins with visible peristalsis. Barium enema revealed dilated proximal colon, empty rectum, funnel like transition zone between proximal dilated and distal constricted bowel. Serum TSH level was >150 μIU/mL. Biopsy revealed aganglionic segment suggesting Hirschsprung’s disease, an unusual association with congenital hypothyroidism.