Cystic fibrosis presenting as recurrent pancreatitis in a young child with a normal sweat test and pancreas divisum: a case report

<p>Abstract</p> <p>Introduction</p> <p>Pancreatitis is a rare manifestation of cystic fibrosis (CF) and may rarely be the presenting symptom in adolescent or adult patients with CF. We report a case of a 4 year-old female who initially presented with recurrent pancreatitis, a normal sweat test, and a diagnosis of pancreas divisum. She was subsequently diagnosed with cystic fibrosis at the age of 6 years, despite normal growth and no pulmonary symptoms, after nasal potential difference measurements suggested possible CF and two known CF-causing mutations (ΔF508 and L997F) were detected.</p> <p>Case Presentation</p> <p>An otherwise healthy 4 year-old female developed chronic pancreatitis and was diagnosed with pancreas divisum. Sphincterotomy was performed without resolution of her pancreatitis. Sweat test was negative for cystic fibrosis, but measurement of nasal potential differences suggested possible cystic fibrosis. These results prompted extended Cystic Fibrosis Transmembrane Regulator Conductance (CFTR) mutational analysis that revealed a compound heterozygous mutation: ΔF508 and L997F.</p> <p>Conclusion</p> <p>CFTR mutations should be considered in cases of chronic or recurrent pancreatitis despite a negative sweat test and the presence of pancreas divisum. Children with CFTR mutations may present with recurrent pancreatitis, lacking any other signs or symptoms of cystic fibrosis. It is possible that the combination of pancreas divisum and abnormal CFTR function may contribute to the severity and frequency of recurrent pancreatitis.</p

Ultrasound-Guided Radiofrequency Thermal Ablation of Uterine Fibroids: Medium-Term Follow-Up

Previous studies have shown that radiofrequency thermal ablation (RFA) of uterine fibroids through a percutaneous ultrasound (US)-guided procedure is an effective and safe minimally invasive treatment, with encouraging short-term results. The aim of this study was to assess the results in terms of volume reduction and clinical symptoms improvement in the midterm follow-up of fibroids with a diameter of up to 8 cm. Eleven premenopausal females affected by symptomatic fibroids underwent percutaneous US-guided RFA. Symptom severity and reduction in volume were evaluated at 1, 3, 6, 9, and 12 months. The mean symptom score (SSS) before the procedure was 50.30 (range 31.8–67.30), and the average quality of life (QOL) score value was 62 (range 37.20–86.00). The mean basal diameter was 5.5 cm (range 4.4–8) and the mean volume was 101.5 cm3 (range 44.58–278 cm3). The mean follow-up was 9 months (range 3–12 months). The mean SSS value at the end of the follow-up was 13.38 (range 0–67.1) and the QOL 90.4 (range 43.8–100). At follow-up the mean diameter was 3.0 cm (range 1.20–4.5 cm), and the mean volume was 18 cm3 (range 0.90–47.6 cm3). In 10 of 11 patients we obtained total or partial regression of symptoms. In one case the clinical manifestations persisted and it was thus considered unsuccessful. In conclusion, US-guided percutaneous RFA is a safe and effective treatment even for fibroids up to 8 cm

Two Brothers with Skewed Thiopurine Metabolism in Ulcerative Colitis Treated Successfully with Allopurinol and Mercaptopurine Dose Reduction

Thiopurine therapy effectively maintains remission in inflammatory bowel disease. However, many patients are unable to achieve optimum benefits from azathioprine or 6-mercaptopurine because of undesirable metabolism related to high thiopurine methyltransferase (TPMT) activity characterized by hepatic transaminitis secondary to increased 6-methylmercaptopurine (6-MMP) production and reduced levels of therapeutic 6-thioguanine nucleotide (6-TGN). Allopurinol can optimize this skewed metabolism. We discuss two brothers who were both diagnosed with ulcerative colitis (UC). Their disease remained active despite oral and topical mesalamines. Steroids followed by 6-mercaptopurine (MP) were unsuccessfully introduced for both patients and both were found to have high 6-MMP and low 6-TGN levels, despite normal TMPT enzyme activity, accompanied by transaminitis. Allopurinol was introduced in combination with MP dose reduction. For both brothers addition of allopurinol was associated with successful remission and optimized MP metabolites. These siblings with active UC illustrate that skewed thiopurine metabolism may occur despite normal TPMT enzyme activity and can lead to adverse events in the absence of disease control. We confirm previous data showing that addition of allopurinol can reverse this skewed metabolism, and reduce both hepatotoxicity and disease activity, but we now also introduce the concept of a family history of preferential MP metabolism as a clue to effective management for other family members

Contribution of higher risk genes and European admixture to Crohnʼs disease in African Americans:

African Americans (AA) are an admixed population of West African (WA) and European ancestry (EA). Crohn's disease (CD) susceptibility genes have not been established. We therefore evaluated the contribution of European admixture and major established risk genes to AA CD