Congenital Disorder of Glycosylation Type 1F

Last update 01 Nov 2024

Basic Info

Synonyms

1 f型先天性糖基化障碍, CDG If, CDG syndrome type If

+ [18]

Introduction

A congenital disorder of glycosylation sub-type caused by mutation(s) in the MPDU1 gene, encoding mannose-P-dolichol utilization defect 1 protein.

100 Clinical Results associated with Congenital Disorder of Glycosylation Type 1F

100 Translational Medicine associated with Congenital Disorder of Glycosylation Type 1F

0 Patents (Medical) associated with Congenital Disorder of Glycosylation Type 1F

Literatures (Medical) associated with Congenital Disorder of Glycosylation Type 1F

01 Apr 2024·European Journal of Pediatric Surgery

The Development of the International Intestinal Failure Registry and an Overview of its Results

Review

Author: Venick, Robert ; Avitzur, Yaron ; Pahl, Eric

AbstractPediatric intestinal failure (IF) is a rare disease that represents an evolving field in pediatric gastroenterology and surgery. With only a limited number of multicenter collaborations, much of the research in pediatric IF is often confined to single-center reports with small sample sizes. This has resulted in challenges in data interpretation and left many knowledge gaps unanswered. Over the past two decades, five large multicenter collaborations, primarily from North America and Europe, have published their findings. Apart from one ongoing European adult and pediatric registry, these relatively large-scale efforts have been concluded.In 2018, the International Intestinal Failure Registry (IIFR) was initiated by the International Intestinal Rehabilitation and Transplant Association to continue these efforts and answer some of the knowledge gaps in pediatric IF. The IIFR goals are to prospectively assess the natural history of children diagnosed with IF and creating a worldwide platform to facilitate benchmarking and evidence-based interventions in pediatric IF. A pilot phase involving 204 enrolled patients was initiated in 2018 to assess the feasibility of an international IF registry and refine the study protocol and data collection forms. Following the successful completion of this phase, the current phase of the IIFR was launched in 2021. As of May 2023, the registry includes 362 prospectively followed children from 26 centers worldwide. This review provides an overview of the development, structure, and challenges of the IIFR, as well as the main findings from both the pilot and current phase.

01 Feb 2024·Nutrition in Clinical Practice

Medication use in a cohort of adults with chronic intestinal failure: A prospective cross‐sectional study

Article

Author: Declercq, Peter ; Spriet, Isabel ; Vanuytsel, Tim ; Deleenheer, Barbara ; Lauwers, Nathalie

AbstractBackgroundOral drug therapy may be compromised in chronic intestinal failure (IF) because of alterations in absorption and transit. Only scarce literature is available on which medication patients with chronic IF take in daily life. The aim was to describe the medication use in these patients.MethodsA medication history was obtained from adults with chronic IF treated in our tertiary care IF center. Degree of polypharmacy, drug classes, Biopharmaceutics Classification System classes, route of administration, and formulation of drugs were analyzed.ResultsFrom October 2019 until December 2020, 72 patients (35 patients with short bowel syndrome [SBS] and 37 patients without SBS) were included. Polypharmacy was seen in 85.7% of patients with SBS and 75.7% of patients without SBS. The top three drug classes were proton‐pump inhibitors, vitamin D or acetaminophen, and antimotility medication or laxatives/benzodiazepines. Approximately 25% of the drugs were classified as Biopharmaceutics Classification System class I drugs. In patients with SBS (78%) and patients without SBS (74.9%), most medication was taken orally, requiring gastrointestinal absorption of the active substance to be pharmacologically active. Most of these medications (77% in patients with SBS and 80.8% in patients without SBS) were formulated as a capsule or tablet, requiring disintegration and dissolution in the gastrointestinal tract before absorption can take place.ConclusionPolypharmacy was observed in most patients with chronic IF. Most medication was taken orally in formulations requiring disintegration, dissolution, and gastrointestinal absorption, which could be compromised in chronic IF.

30 Dec 2023·Journal of Crohn's and Colitis

Disease Recurrence and Long-term Outcomes Following the Development of Intestinal Failure in Crohn’s Disease: Over 20 Years of Experience from a National Reference Centre

Article

Author: Crooks, Benjamin ; Stansfield, Catherine ; Bond, Ashley ; Deutsch, Liat ; Carlson, Gordon ; Lal, Simon ; Soop, Mattias ; Conley, Thomas ; Kopczynska, Maja

AbstractBackground and AimsIntestinal failure [IF] is a recognised complication of Crohn’s disease [CD]. The aim of this study was to identify factors predicting the development and recurrence of CD in patients with IF [CD-IF], and their long-term outcomes.MethodsThis was a cohort study of adults with CD-IF admitted to a national UK IF reference centre between 2000 and 2021. Patients were followed from discharge with home parenteral nutrition [HPN] until death or February 28, 2021.ResultsIn all, 124 patients were included; 47 [37.9%] changed disease location and 55 [44.4%] changed disease behaviour between CD and CD-IF diagnosis, with increased upper gastrointestinal involvement [4.0% vs 22.6% patients], p <0.001. Following IF diagnosis, 29/124 [23.4%] patients commenced CD prophylactic medical therapy; 18 [62.1%] had a history of stricturing or penetrating small bowel disease; and nine [31.0%] had ileocolonic phenotype brought back into continuity. The cumulative incidence of disease recurrence was 2.4% at 1 year, 16.3% at 5 years and 27.2% at 10 years; colon-in-continuity and prophylactic treatment were associated with an increased likelihood of disease recurrence. Catheter-related bloodstream infection [CRBSI] rate was 0.32 episodes/1000 catheter days, with no association between medical therapy and CRBSI rate.ConclusionsThis is the largest series reporting disease behaviour and long-term outcomes in CD-IF and the first describing prophylactic therapy use. The incidence of disease recurrence was low. Immunosuppressive therapy appears to be safe in HPN-dependent patients with no increased risk of CRBSI. The management of CD-IF needs to be tailored to the patient’s surgical disease history alongside disease phenotype.

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Congenital Disorder of Glycosylation Type 1F

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