Abnormal expression of oxylipins and related synthesizing/signaling pathways in inflammatory bowel diseases.

We investigated selected oxylipins and related synthesizing/signaling pathways in 28 patients with Crohn's disease (CD), 19 patients with ulcerative colitis (UC), and 39 controls. Plasma and mucosal PUFA/oxylipin profiles were analyzed by LC-MS/MS. mRNA expression of 5, 12 and 15-lipooxygenases, FPR2/ALXR, FFAR4/GPR120, annexin A1, and interleukin-10 were analyzed by qRT-PCR.

Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study.

Background: Organic aciduria diseases (OADs) occur worldwide, with differences in prevalence and patterns between populations.

Objectives: To describe the spectrum of OADs identified in Tunisia over a 35-years period.

Materials And Methods: This retrospective study included patients who were diagnosed with OADs between 1987 and 2022 in the Laboratory of Biochemistry, Rabta Hospital, Tunisia.

Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).

Background: We report the results gathered over 15 years of screening for congenital disorders of glycosylation syndrome (CDGS) in Tunisia according to clinical and biochemical characteristics.

Methods: Our laboratory received 1055 analysis requests from various departments and hospitals, for children with a clinical suspicion of CDGS. The screening was carried out through separation of transferrin isoforms by capillary zone electrophoresis.

Analysis of Branched Amino Acids by UPLC as an Alternative Method for the Management of Patients with MUSD.

Background: Maple syrup urine disease (MSUD) is a severe life-threatening metabolic disorder. Patients' poor outcomes could be prevented by early diagnosis and regular monitoring, which mainly depend on the analysis of branched amino acids (BCAAs) in plasma. The study aimed to test whether the analysis of BCAAs by ultra-performance liquid chromatography (UPLC) is an alternative to an analysis by ion-exchange chromatography (IEC) for the diagnosis and monitoring of MSUD.

Incidence of the Mucopolysaccharidoses in Tunisia, 1999 - 2021.

Background: This cross-sectional study aimed to describe and discuss the epidemiology of mucopolysaccharidoses (MPS) in Tunisia.

Methods: Patients diagnosed with a MPS disorder in two referral laboratories in Tunisia between 1999 and 2021 were included. Diagnosis was based on clinical and radiological features and analysis of urinary glycosaminoglycans, and enzyme assay in some of the patients.