Peutz Jeghers Syndrome

Diagnosis of Peutz-Jeghers syndrome (PJS) requires the presence of histologically verified PJS polyps in the gastrointestinal (GI) tract and at least two of the following: (1) small bowel polyps, (2) melanin pigmentation, and/or (3) a family history of PJS. As many as half of all PJS cases are thought to be de novo. Therefore, genetic testing should begin with an affected individual. Full sequencing of the STK-11 gene detects 30 to 70% of pathogenic mutations in sporadic cases and 70% in familial cases. For individuals with PJS by clinical criteria or by genetic analysis, biennial colonoscopy, upper endoscopy, and small bowel series, should begin at age 12 years. At age 18 years, affected females should begin annual gynecologic exams with transvaginal ultrasound and CA-125. At age 25 years, affected patients should begin computed tomography scans or endoscopic ultrasound every 1 to 2 years, and females should undergo yearly clinical breast examination with mammography. If a family PJS mutation is identified, any biological relatives who have this mutation should undergo surveillance as described above. Those relatives without the family mutation are unaffected and can follow general population screening guidelines. If genetic testing is inconclusive (no mutation is detected in an affected person or no affected person has undergone genetic testing), the individual should be screened as though affected.

Constipation Prescription

Constipation Prescription

Did you ever think feeling angry and irritable could be a symptom of constipation? A horrible fullness and pressing sharp pains against the bladders can’t help but affect your mood. Sometimes you just want everyone to leave you alone and sleep to escape the pain. It is virtually impossible to be constipated and keep a sunny disposition. Follow the steps in this guide to alleviate constipation and lead a happier healthy life.

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