Prevalence of primary eosinophilic colitis in patients with chronic diarrhea and diarrhea-predominant irritable bowel syndrome.

Introduction: Primary eosinophilic colitis (PEC) is an inflammatory disease caused by the infiltration of eosinophils into the mucosa of the colon, determined after having ruled out other possible causes. It is characterized by abdominal pain and diarrhea and its prevalence is unknown.

Aims: To know the prevalence of PEC in patients with chronic diarrhea and in those with clinical criteria for diarrhea-predominant irritable bowel syndrome (IBS-D).

Prevalence of primary eosinophilic colitis in patients with chronic diarrhea and diarrhea-predominant irritable bowel syndrome.

Introduction: Primary eosinophilic colitis (PEC) is an inflammatory disease caused by the infiltration of eosinophils into the mucosa of the colon, determined after having ruled out other possible causes. It is characterized by abdominal pain and diarrhea and its prevalence is unknown.

Aims: To know the prevalence of PEC in patients with chronic diarrhea and in those with clinical criteria for diarrhea-predominant irritable bowel syndrome (IBS-D).

A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.

Many chromosomal deletions encompassing the 2q23.1 region have been described ranging from small deletions of 38 kb up to >19 Mb. Most phenotypic features of the 2q23.

A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.

Glycogen-storage disease type II, also named Pompe disease, is caused by the deficiency of the enzyme acid alpha-glucosidase, which originates lysosomal glycogen accumulation leading to progressive neuromuscular damage. Early-onset Pompe disease shows a debilitating and frequently fulminating course. To date, more than 300 mutations have been described; the majority of them are unique to each affected individual.