scholarly journals Pharmacokinetics of Asfotase Alfa in Adult Patients With Pediatric‐Onset Hypophosphatasia

Author(s):  
Wei‐Jian Pan ◽  
Rajendra Pradhan ◽  
Ryan Pelto ◽  
Lothar Seefried
Bone ◽  
2021 ◽  
Vol 143 ◽  
pp. 115794
Author(s):  
Julian Stürznickel ◽  
Felix N. Schmidt ◽  
Emil von Vopelius ◽  
Maximilian M. Delsmann ◽  
Constantin Schmidt ◽  
...  

As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever.Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a topic that will become a growing imperative for physicians across primary and specialized care.


Author(s):  
Alain M. Schoepfer ◽  
Vu Dang Chau Tran ◽  
Jean-Benoit Rossel ◽  
Christiane Sokollik ◽  
Johannes Spalinger ◽  
...  

Introduction: Given the lack of data we aimed to assess the impact of the length of diagnostic delay on natural history of ulcerative colitis in pediatric (diagnosed <18 years) and adult patients (diagnosed ≥18 years). Methods: Data from the Swiss Inflammatory Bowel Disease cohort study were analyzed. Diagnostic delay was defined as interval between the first appearance of UC-related symptoms until diagnosis. Logistic regression modeling evaluated the appearance of the following complications in the long term according to the length of diagnostic delay: colonic dysplasia, colorectal cancer, UC-related hospitalization, colectomy, and extra-intestinal manifestations (EIM). Results: A total of 184 pediatric and 846 adult patients were included. Median diagnostic delay was 4 [IQR 2-7.5] months for the pediatric-onset group and 3 [IQR 2-10] months for the adult-onset group (P=0.873). In both, pediatric and adult-onset groups, length of diagnostic delay at UC diagnosis was not associated with colectomy, UC-related hospitalization, colon dysplasia, and colorectal cancer. EIM were significantly more prevalent at UC diagnosis in the adult-onset group with long diagnostic delay compared to the adult-onset group with short diagnostic delay (p = 0.022). In the long term, length of diagnostic delay was associated in the adult onset group with colorectal dysplasia (p=0.023), EIMs (p<0.001) and more specifically arthritis/arthralgias (p<0.001) and ankylosing spondylitis/sacroiliitis (p<0.001). In the pediatric-onset UC group, length of diagnostic delay in the long term was associated with arthritis/arthralgias (p=0.017); however, it was not predictive for colectomy and UC-related hospitalization. Conclusions: As colorectal cancer and EIMs are associated with considerable morbidity and costs, every effort should be made to reduce diagnostic delay in UC patients.


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