Adult Onset Vanishing White Matter Disease: A Rare Case Report.

Vanishing white matter disease (VWMD) is the most common childhood-onset inheritable progressive leukodystrophy disorder, which exclusively affects the white matter of the brain. It shows mutations in one of the five eukaryotic translation initiation factor 2B1-5 genes following an autosomal recessive pattern, of which eIF2B5 mutation is the most frequent. These genes play a vital role in the translation and regulation of protein synthesis and mutation in them leads to a dysregulation of the cellular stress response, which in particular disrupts myelination and affects oligodendrocytes and astrocytes while sparing the neurons. Stressful situations, for example, head trauma, sudden fright, acute psychological stress, or infection, provoke severe and rapid neurological deterioration. Although it is more common in childhood, we report a case of an adult presenting with signs and symptoms of VWMD, such as abusive behavior, emotional liability, and motor incoordination. To our knowledge, this is the first case of adult-onset VWMD in Maharashtra, India, confirmed by magnetic resonance imaging (MRI) of the brain.

Framework for development of urgent care services towards strengthening primary healthcare in India - Joint position paper by the Academy of Family Physician of India and the Academic College of Emergency Experts.

Urgent care practice (UCP) is a novel concept for India. Urgent care primarily deals with injuries or illnesses requiring immediate care. Medical emergency and urgency can happen anywhere unannounced. Research has shown that 90% of the morbidities can be resolved within the community by primary care physicians lead teams. Given the changing professional demands, non-specialists tend to refer away far too many cases to specialists, undermining generalist medical care, particularly in Indian settings. The spillover of the patient load from the primary care setting to the tertiary care centers is enormous leading to resource mismatch. Family physicians and other primary care providers are best positioned to develop practices and provide good quality urgent care to society. Family physicians, general practitioners, and medical officers are already functioning as the frontline care providers for any emergency or medical urgency arising within communities. Urgent care is essentially ambulatory care or outpatient care outside of a traditional hospital emergency room. "UCP aims to provide timely support, which is easily accessible with a focus on good clinical outcomes, e.g. survival, recovery, lack of adverse events, and complications. Core interventions of urgent care are centered on the 4Rs - Rescue, Resuscitate, Relate, and Refer. At present, there are no available, established training model for future faculty, residents, and medical students on "UCP" in India.