Search

This article, published in Indian Pediatrics, discusses a case of cobalamin C deficiency as an uncommon cause of hemolytic uremic syndrome (HUS). The case involves a 3-year-old boy who presented with symptoms including fever, abdominal pain, and decreased urine output. The child was diagnosed with cobalamin C deficiency through genetic testing and was treated with injectable hydroxocobalamin and other supportive care. The article emphasizes the importance of considering uncommon etiologies when diagnosing TMA and highlights the need for early and specific treatment for improved outcomes. [Extracted from the article]

Distal renal tubular acidosis (RTA) with sensorineural deafness is a rare entity, inherited in an autosomal recessive manner. It is caused by mutations in the ATP6V1B1 gene, leading to defective function of H+-ATPase pump in the distal nephron, cochlea and endolymphatic sac. We report two siblings with distal RTA and sensorineural deafness having mutation C>T in the first coding exon of the gene, resulting in a non functional protein. The parents were found to be carriers for the mutation. [ABSTRACT FROM AUTHOR]

The article provides insights on the benefits of smartphones to pediatricians and patients. Among the models of smartphones are the Apple iPhone and Motorola RIZR Z8-10. Some of the medical interfaces for iPhone are Epocrates Rx software and Skyscape Medical Information software. Patients are said to be aided by the free symptom navigator for the iPhone third generation (3G) in matching medical symptoms with relevant assessments and appropriate treatments.

The article offers information on several medical calculators available as webpages or as downloadable software for mobile communication devices. The website md-calc at http://www.mdcalc.com/offers calculators for all medical specialties. The Pediatriconcall website at http://www.pediatriconcall.com features calculators related to pediatrics. The software application Archimedes can be uploaded in iPhones.

The article discusses micro-blogging and its significance to medical practice. Micro-blogging, refers to a form of blogging that enables users to write brief text updates and publish them. It is said that twitter is the most popular micro-blogging tool. The benefits of twitter to medical practice include allowing physicians to share updates about their patients, providing capability to manage events, lectures and sessions and serving as an additional tool for support groups with various health conditions.

The article focuses on social networking for clinicians. Among the benefits of joining a social network website for physicians include meeting fellow clinicians with common interests and allowing free flow of ideas and exchange of medical knowledge. Some of the social networks for these individuals include Sermo at http://www.sermo.com/ and DoctorHangout at http://www.doctorshangout.com/