Causes of vitamin B12 deficiency in children include decreased intake, abnormal absorption, and inborn errors of B12 transport and metabolism. Rare causes of abnormal cobalamin absorption include Imerslund-Grasbeck syndrome (IGS) and intrinsic factor deficiency (IFD). IGS and IFD are caused by defects in the genes CUBN, AMN, and GIF. We describe a 2 year old male who presented with severe megaloblastic anemia and methylmalonic acidemia. He was found to have a GIF heterozygous mutation c.79+1G>A associated with congenital gastric intrinsic factor deficiency and a novel variant c.960C>A in trans position.
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Recent Articles
Anti-Diabetic Activity of Lycopene Niosomes: Experimental Observation
The lycopene is a known bioactive constituent of Lycopersicum esculentum and its application in diabetes is an active area of research.
The lycopene has disadvantages such as susceptible to light, heat, and oxidants, which limit its therapeutic applications. In the present
investigation, we reported lycopene niosomes formulation which can enhance its anti-diabetic application. The niosome formulation
was prepared to preserve lycopene activity.
Optic Nerve Cavernous Haemangioma as a Rare Cause of Retro-Orbital Pain mimicking Intracranial Aneurysm.
Cavernous haemangiomas of the optic nerve, optic chiasm or optic tract are rare. Usually they present with acute onset of symptoms such as acute decline of visual acuity, headaches, nausea or even decline of the level of consciousness which suggests haemorrhage in or even out of the lesion. Otherwise, they have an insidious clinical pattern with subacute or chronic visual disturbance, diplopia and retro- orbital pain.
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The electrocardiogram (ECG) is a widely used tool to track and to detect heart diseases which are one of the leading causes of death in the world. Some countries have been using the resources of telemedicine to enable health care in situations where distance is a critical factor, including cardiovascular diseases. In Brazil, the State of Minas Gerais has a telecardiology system, the Teleminas Saúde Project, which covers approximadely 70% of the state population.
