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April 29, 2024

Thrombocytopenia, With or Without Other Manifestations Related to Gaucher Disease: A Key Diagnostic Clue in Gaucher Disease

1. Abstract 1.1. Aim: Gaucher disease (GD) is a rare autosomal recessive genetic disorder caused by a deficiency in the activity of β-glucocerebrosidase, a lysosomal enzyme. Rapid and accurate diagnosis of GD can maximize the effectiveness of treatment effect. However, diagnosing GD is challenging and tends to be delayed because its early clinical manifestations and severity are highly heterogeneous and nonspecific, and may present at any age from early infancy to mature adulthood.

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Pathway Crosstalk Analysis of mTOR Gene in Insulin Resistance Mediated Obesity Using Microarray Data

1. Abstract Obesity is defined as the early deposition of adipose tissue caused by a consistent caloric intake that exceeds the individual’s caloric needs. As a worldwide issue, the rising incidence of obesity is a major source of concern—not because of sickness, but because of excess. Obesity is linked to a number of ailments, the most serious of which might be type 2 diabetes, and the fundamental reason for this link is obesity’s proclivity to develop insulin resistance.

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Concha Bullosa of the Inferior Turbinate: A Rare Anatomical Cause of Nasal Obstruction

1. Abstract 1.1. Background: Cavity formation filled with air in the inferior turbinate is very rare. Hitherto, only 13 cases of inferior turbinate concha bullosa have been reported. I present an additional case discovered during the evaluation of a patient with chronic rhinosi- nusitis.

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