Post Type Archives: Topics

Prader-Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes. Prader-Willi syndrome occurs because certain paternal genes that should be expressed are not Expressed. These genes are situated on chromosome 15. Pathogenesis A set of genes on the maternal chromosome at 15q12 is imprinted (and hence silenced), so the paternal […]

Genomic imprinting is an epigenetic process that involves DNA methylation and histone methylation which doesn’t alter the genetic sequence but causes transcriptional silencing. Imprinting means marking a gene in the germline (sperm or ova) of the parents and which is maintained through mitotic cell divisions in the somatic cells of an organism. In simple term […]

Therapeutic hypothermia is a new treatment that increases survival and quality of life in patients suffering from ischemic insults such as stroke, cardiac arrest, and neurogenic fever following brain injury. Neuronal cells are the most sensitive cells for hypoxic injury and as soon as hypoxia sets in there is inflammation, free radical injury and excitotoxicity furthering brain damage to next level.

Autophagy is a genetically regulated pathway that is essential for survival, differentiation, development, and homeostasis of eukaryotic cell (obviously including human cell). Autophagy means self-eating (as the auto means self and phagy means eating) or self-devouring. The lysosome-mediated degradation pathway which has central role in clearing damaged organelles and recycling nutrients.   The process of […]

Lead poisoning is most significant preventable causes of neurologic morbidity from an environmental toxin. Lead is ubiquitous in our environment, and human exposure occurs most commonly in lead related occupations. It is also called Plumbism because of its relation to old lead pipes plumbing in old houses. Lead based painting, pottery, arm industry and toy […]

Celiac disease (Celiac Sprue) is an autoimmune disease caused by the ingestion of gluten, it is also called gluten sensitive enteropathy. Gluten is the protein component of wheat, rye and barley. There is an intestinal immune reaction to gluten in genetically predisposed individuals causing damage to intestinal epithelium. Following three factors are working together in […]

Organophosphate Poisoning occurs due to exposure to organophosphates, these organophosphate compounds are used as commercial insecticides, in chemical warfare as nerve gases and are used as aerosols or dusts. They are rapidly absorbed through skin and mucous membranes or by inhalation. Organophosphates are also used in ophthalmology (echothiopate is used to treat glaucoma). Mechanism of […]

Diverticular disease has become the most common gastrointestinal disorder in the United States and is the leading indication for elective colon resection. The incidence of diverticular disease is on the rise. Formerly, diverticular disease was confined to developed countries but with the adoption of westernized diets in underdeveloped countries, diverticulosis is on the rise across […]

Salivary gland tumors are rare tumors that begin in the salivary glands. Salivary gland tumors can begin in any of the salivary gland, but parotid gland is most common site. Following are the most common forms- Pleomorphic Adenoma Pleomorphic adenomas are benign tumors consisting of mixture of epithelial and mesenchymal cells. Epithelial elements are dispersed […]

Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by recurrent abdominal pain and altered bowel habit in the absence of significant organic pathology. Pathogenesis Irritable bowel syndrome has no significant structural abnormality and pathogenic mechanism causing disease is uncertain. Following are few hypotheses associated with IBS- Gastrointestinal tract motor abnormalities (e.g., abnormal transit […]