Comparison of methods to normalize urine output in critically ill patients: a multicenter cohort study.

Background: Oliguria diagnosis includes the normalization of urine output (UO) by body weight. However, the rational and the method to apply to normalize UO to body weight are unclear. We aimed to explore the impact of the method applied to normalize UO on oliguria incidence and association with outcomes.

Chemokine (C-C Motif) Ligand 14 to Predict Persistent Severe Acute Kidney Injury: A Systematic Review and Meta-Analysis.

Introduction: In this systematic review and meta-analysis, we aimed to review available data and provide pooled estimates of the predictive performance of urinary chemokine (C-C motif) ligand (uCCL14) for persistent (≥48 h) severe acute kidney injury (PS-AKI).

Methods: We searched MEDLINE, PubMed, Cochrane Library, and EMBASE for studies published up to April 11, 2023. We considered all studies including adults and reporting on the ability of uCCL14 to predict PS-AKI as defined by AKI persisting for 48 or 72 h.

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.

Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b.

Background: Glycogen storage disease type 1b (GSD1b) is an autosomal recessive lysosomal storage disease caused by defective glucose-6-phosphate transporter encoded by SLC37A4 leading to the accumulation of glycogen in various tissues. The high rate of consanguineous marriages in Tunisian population provides an ideal environment to facilitate the identification of homozygous pathogenic mutations. We aimed to determine the clinical and genetic profiles of patients with GSD1b to evaluate SLC37A4 mutations spectrum in Tunisian patients.

Prevalence and risk factors of Strongyloides stercoralis in haemodialysis in Cochabamba, Bolivia: a cross-sectional study.

Background: Strongyloidiasis is an infectious disease that can be fatal in immunocompromised patients. Patients with end-stage renal failure who are on dialysis have a considerably weakened immune system, and organ transplantation is a major risk factor for severe strongyloidiasis. Knowledge of the local epidemiology in tropical and subtropical areas is an essential prerequisite for designing an appropriate strategy to prevent this potentially lethal complication.

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.

Background: Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities. Patients with ocular cystinosis are mostly asymptomatic and typically experience mild photophobia due to cystine crystals in the cornea observed accidently during a routine ocular examination. The ocular cystinosis is associated with different mutations in CTNS gene.

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.

Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic features, and motor dysfunctions. AM has never been reported in Tunisia.

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Background: Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase (FUCA1) activity, leading to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex.

Methods: All exons and flanking intron regions of FUCA1 were screened by direct sequencing to identify mutations and polymorphisms in three unrelated families with fucosidosis.

Contribution of common CFTR variants (M470V, T854, and Q1463) to cystic fibrosis in Tunisia: haplotype analysis.

Background & Objectives: Cystic fibrosis (CF) is caused by mutations in the gene encoding the CF transmembrane regulator (CFTR) protein, a chloride channel located in the epithelial cell membrane. Over than 2,000 CFTR mutations have been identified, which contribute to the variety of clinical phenotypes of CF. We performed a case-control study to determine p.

Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.

Aim: To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization.

Methods: All children with CF diagnosed by positive sweat tests between 1996 and 2015 in children's departments of Tunisian university hospitals were included. Data was recorded at diagnosis and during the follow-up from patients' medical records.

[Deprescribing antihypertensive therapy].

With the rise of life-expectancy, the number of comorbidities can increase and lead to polypharmacy (≥ 5 drugs/day) and excessive polypharmacy (> 9 drugs/day). In order to define suitable therapeutic targets, it is essential to take into account the heterogeneity of this population which can be classified into 3 categories : robust, vulnerable or dependent. In this context, the concept of deprescription, which englobes the process of tapering or stopping drugs, aimed at improving patient outcomes, becomes an important therapeutic tool.

Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients.

Aim: The aim of the study is to report on epidemiological, clinical, and biochemical characteristics of nonketotic hyperglycinemia (NKH) in Tunisia.

Methods: Patients diagnosed with NKH in Laboratory of Biochemistry at Rabta hospital (Tunis, Tunisia) between 1999 and 2018 were included. Plasma and cerebrospinal fluid (CSF) free amino acids were assessed by ion exchange chromatography.

Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study.

Objective and methods To evaluate variation of capillary phenylalanine concentrations over the day in patients treated for phenylketonuria and the reliability of the morning sample to assess metabolic control, we conducted a repeated cross-sectional study in 25 Tunisian patients on phenylalanine-low diet. For each patient, we collected nine capillary samples over the day. Phenylalanine was dosed by fluorimetry.

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.

Background: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated glycosaminoglycans (GAGs).

Methods: A diagnosis of MPS II or Hunter syndrome was performed based on the following approach after a clinical and paraclinical suspicion. Two biochemical and molecular tests were carried out separately and according to the availability of the biological material.

Role play for genetic counseling learning: Value and students perceptions.

Background: Performing genetic counseling is one of the tasks of every paediatrician. This assumes prior training during the residency.

Aim: To assess the impact of role-play (RP) for training of paediatric residents in genetic counseling and participants' perception.

Meningitis due to non-steroidal anti-inflammatory drugs: an often-overlooked complication of a widely used medication.

A 40-year-old man developed aseptic meningitis after ibuprofen consumption for tension-type headaches. After a thorough diagnostic workup and lack of improvement on empirical therapy for common aetiologies of meningitis (bacterial and viral infections), we suspected non-steroidal anti-inflammatory drug (NSAID) induced meningitis due to the temporal relationship between drug administration and symptom onset. Two days after NSAID suppression, the evolution was progressively favourable with complete resolution of fever and symptoms.

Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease.

Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening hyperinflammatory condition that may be triggered by infections, autoimmune and immunologic disorders, malignancies, and metabolic diseases. Early and accurate diagnosis of HLH and its underlying cause is of paramount importance for proper management and prognosis. We report the case of a Tunisian 21-month-old girl who initially presented clinical features of HLH related to a lysosomal acid lipase deficiency.

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.

Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple congenital anomalies, which are frequently accompanied by hypertrophic cardiomyopathy (HCM). We report here a Tunisian patient with a severe phenotype of Noonan syndrome including neonatal HCM, facial dysmorphism, severe failure to thrive, cutaneous abnormalities, pectus excavatum and severe stunted growth, who died in her eighth month of life.

Factors predictive of prognosis of infantile spasms. A retrospective study in a low-income country.

Purpose: To describe the management of infants with epileptic spasms (ESs) in a low-income country and identify factors predictive of their prognosis.

Material And Methods: We conducted a retrospective study in a university hospital in Tunis, Tunisia, over a period of 10 years. We included infants with recurrent ESs.

Patient-management Problem (PMP) for paediatrics learning: Value and students perceptions.

Background: The use of the pedagogic tool Patient-Management Problem (PMP) for medical teaching and evaluation remains limited in Tunisia.

Aim: to evaluate the value of PMP learning sessions in pediatrics and students' perception of the use of PMP for learning and evaluation.

Methods: We conducted a cross-sectional evaluative study in four pediatric departments in Tunis.