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1.  Differences in presentation and progression between severe FIC1 and BSEP deficiencies 
Journal of hepatology  2010;53(1):170-178.
Background & Aims
Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in ATP8B1 (encoding familial intrahepatic cholestasis 1 [FIC1]) or ABCB11 (encoding bile salt export pump [BSEP]). We evaluated clinical and laboratory features of disease in patients diagnosed with PFIC, who carried mutations in ATP8B1 (FIC1 deficiency) or ABCB11 (BSEP deficiency). Our goal was to identify features that distinguish presentation and course of these 2 disorders, thus facilitating diagnosis and elucidating the differing consequences of ATP8B1 and ABCB11 mutations.
Methods
A retrospective multi-center study was conducted, using questionnaires and chart review. Available clinical and biochemical data from 145 PFIC patients with mutations in either ATP8B1 (61 “FIC1 patients”) or ABCB11 (84 “BSEP patients”) were evaluated.
Results
At presentation, serum aminotransferase and bile salt levels were higher in BSEP patients; serum alkaline phosphatase values were higher, and serum albumin values were lower, in FIC1 patients. Elevated white blood cell counts, and giant or multinucleate cells at liver biopsy, were more common in BSEP patients. BSEP patients more often had gallstones and portal hypertension. Diarrhea, pancreatic disease, rickets, pneumonia, abnormal sweat tests, hearing impairment, and poor growth were more common in FIC1 patients. Among BSEP patients, the course of disease was less rapidly progressive in patients bearing the D482G mutation.
Conclusions
Severe forms of FIC1 and BSEP deficiency differed. BSEP patients manifested more severe hepatobiliary disease, while FIC1 patients showed greater evidence of extrahepatic disease.
doi:10.1016/j.jhep.2010.01.034
PMCID: PMC3042805  PMID: 20447715
cholestasis; genetics; transport protein; pediatrics; P-type ATPase; ATP binding cassette protein; ATP8B1; FIC1; ABCB11; BSEP
2.  Sinus Excision, Release of Coccycutaneous Attachments and Dermal-Subcuticular Closure (XRD Procedure): A Novel Technique in Flattening the Natal Cleft in Pilonidal Sinus Treatment 
INTRODUCTION
The objective of this study was to analyse, prospectively, the outcome of a new technique – excision of pilonidal sinus and flattening the natal cleft by division of the coccycutaneous attachments at the lower end of the incision.
PATIENTS AND METHODS
Sixty-six consecutive patients with chronic pilonidal sinuses were treated between 1995 and 2001. The procedure consisted of an elliptical, wide, local excision, release of the coccycutaneous attachments and primary closure using dermal-subcuticular closure (XRD). Suction drains were used until drainage was minimal. The height of skin level at the lower angle of the wound from the coccyx was measured intra-operatively before and after division of the coccycutaneous attachments. Postoperatively, patients were assessed for hospital stay, return to normal activity, complications and recurrence.
RESULTS
Sixty-four patients (97%) were males, median age 27 years. The height of skin level rose from a mean of 1.8 cm (95% CI, 1.78–1.85) to a mean of 3.8 cm (95% CI, 3.77–3.88; P < 0.001). Morbidity affected 12 patients (18%), epidermal separation of the lower wound angles (6 patients), seromas (5 patients) and 1 wound dehiscence at 2 weeks. All other wounds healed primarily without dehiscence. There were no recurrences after a median follow-up of 22.5 months (range, 12–38 months).
CONCLUSIONS
Release of the coccycutaneous attachments is an easy technique to learn, which seems to be an effective way of flattening the natal cleft and may result in lower recurrence rate. This technique should be tried in uncomplicated pilonidal sinus disease before more complex procedures are attempted.
doi:10.1308/003588408X285955
PMCID: PMC2645736  PMID: 18634729
Pilonidal sinus; New technique; Advantages; Surgical technique

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