Hyperinsulinemic Hypoglycemia in a Patient With a Mutation in the Insulin Receptor.

Hyperinsulinemic hypoglycemias resulting from variants in the insulin receptor () gene are rare but clinically important disorders. We present a male patient in his 30s, experiencing recurrent postprandial hypoglycemic events. Endocrine evaluation revealed an elevated insulin-to-C-peptide ratio.

The Role of Early Warning Scoring Systems NEWS and MEWS in the Acute Exacerbation of COPD.

Acute exacerbations of chronic obstructive pulmonary disease (AECOPD) are the most devastating events in the course of the disease. Our aim was to investigate the value of early warning scoring systems: National Early Warning Score (NEWS) and Modified Early Warning Score (MEWS) in AECOPD. This is a prospective observational study of patients with AECOPD who were admitted at hospital.

A Well-Defined Endobronchial Tumor in a 26-Year-Old Man.

A 26-year-old man presented with a 2-week history of productive cough and a 1-year history of effort-related dyspnea. His medical history was significant for hay fever and exertion-triggered asthma. He was not taking medicines regularly but was using inhaled salbutamol as needed.

A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis.

Whole-genome sequencing is a promising approach for human autosomal dominant disease studies. However, the vast number of genetic variants observed by this method constitutes a challenge when trying to identify the causal variants. This is often handled by restricting disease studies to the most damaging variants, e.