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.

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).

Objectives: Early diagnosis in Turner syndrome is desirable to optimize growth and puberty and yet, it is often made late. Here, we aim to identify age at diagnosis, clinical features at presentation and potential strategies to improve the care of TS girls.

Methods: Retrospective study, including patients from 14 care centers across Tunisia including neonatal and pediatric care units, adult endocrinology and genetics departments.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.

Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11 (c.325C>T; p.

First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.

Introduction: MEGDEL syndrome is a rare recessive disorder, with about 100 cases reported worldwide, which is defined by 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E) and Leigh-like syndrome (L). When these manifestations were added to hepatopathy (H), the syndrome was labelled as MEGD(H)EL. Mutations in SERAC1 gene encoding a serine active site containing 1 protein were described in patients affected by this syndrome.

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.

Inborn Errors Of Metabolism In Neonatal Period: A Challenging Management In Tunisia.

Objective: To assess clinical presentation of inborn errors of metabolism in neonatal period and to identify challenges in their management.

Methods: This is a retrospective study carried out in the department of Intensive Care and Neonatal Medicine of Monastir in Tunisia from January the 1st 2010 until December the 31st 2017. All hospitalized newborns with life-distress related to confirmed or suspected IEM were included.

Neonatalogist-performed echography in neonatology: a Tunisian experience.

Introduction: Echocardiography is an important tool for diagnosis of cardiac abnormalities that can impact the management and outcome of the sick newborn in the intensive care unit. A preliminary echocardiogram performed by the neonatologist under the supervision of a paediatric cardiologist for interpretation and review is an alternate when there is not a cardiologist on site. The aim of this study was to evaluate frequency of use, neonatal characteristics, and indications of neonatologist-performed echocardiography in a Tertiary Neonatal Care Centre in Tunisia.

Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child.

Methylmalonic acidemia or aciduria (MMA) is an inborn error of metabolism that results in the accumulation of methylmalonic acid in blood with an increased excretion in urine. MMA usually presents in early infancy and its effects vary from mild to life-threatening. The clinical symptoms mainly include vomiting, dehydration, hypotonia, developmental delay, and failure to thrive.

Transported neonates in Tunisia.

Aims: To describe the transport of sick neonates to a tertiary care hospital and evaluate their condition at arrival and outcome.

Methods: A multicenter, prospective cohort study was performed in 7 NICUs in Tunisia from 1st april to 31 July 2015.Demographic parameters, transport details and clinical features at arrival were recorded.

Extremely preterm infants in Tunisia: Where are we now?

Background: Extremely preterm infants are newborns born before 28 weeks of gestation. Survival of these immature newborns depends on resuscitation and the quality of care during hospitalization.

Objective: To determine survival and neurologic outcomes at2 years after extremely preterm birth.

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.

Background: Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pigmenti (IP) is an X-linked, dominantly inherited multisystem disorder.

Case Presentation: This study is the first report of the coexistence of Noonan (NS) and Incontinentia Pigmenti (IP) syndromes in the same patient.

Therapeutic drug monitoring of caffeine in preterm infants: Could saliva be an alternative to serum?

Objective: Evaluate whether saliva could be a useful alternative to serum for routine therapeutic drug monitoring of caffeine in preterm infants using the enzyme multiplied immunoassay technique (EMIT) assay.

Methods: We conducted a prospective study including preterm infants (less than 34 weeks' amenorrhea) admitted to the intensive care and neonatal medicine department. All infants received 5, 10, 15, 20 and 25mg/kg/day of citrate caffeine intravenously from the first to the fifth day of birth, respectively.

Pericardial effusion with cardiac tamponade caused by a central venous catheter in a very low birth weight infant.

With more and more extreme premature and very low-birth weight babies being resuscitated, umbilical central venous catheterisation is now being used more frequently in neonatal intensive care. One of the life-threatening complications is pericardial effusion and cardiac tamponade; however, it is potentially reversible when it is caught in time. The authors present a case of cardiac tamponade following umbilical venous catheterisation in a neonate.

Influence of combined CYP3A4 and CYP3A5 single-nucleotide polymorphisms on tacrolimus exposure in kidney transplant recipients: a study according to the post-transplant phase.

Aim: The present study investigated in Tunisian renal transplant patients, genetic polymorphisms of CYP3A4 -392A>G and CYP3A5 6986A>G and their influence on tacrolimus (Tac) pharmacokinetics during early and late post-transplant (PT) phases and established customized ranges of Tac doses matching the C0 target levels according to CYP3A4 and CYP3A5 genotype combination and the PT phase.

Patients & Methods: We included adult Tunisian patients having received Tac for de novo kidney grafts and undergone a therapeutic drug monitoring of Tac by morning C0 monitoring during early (1 to 90 days) and late (over 90 days) PT phases. The genomic DNA was extracted from peripheral blood mononuclear cells using a salting-out procedure.

[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].

Background: Marshall syndrome is a rare autosomal dominant skeletal dysplasia. It associates a particular facial dysmorphism with midface hypoplasia, ocular abnormalities and sensorineural hearing loss. It is caused by heterozygous mutations in COL11A1 gene coding the 1 chain of collagen XI.

A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation.

The calcium-sensing receptor (CASR), a plasma membrane G-protein coupled receptor, is expressed in parathyroid gland and kidney, and controls systemic calcium homeostasis. Inactivating CASR mutations have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). The aim of the present study is to determine the underlying molecular defect of FHH/NSHPT disease in a consanguineous Tunisian family.

Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inborn error of ketone body metabolism and causes episodic ketoacidosis. We report clinical and molecular analyses of 5 patients with SCOT deficiency. Patients GS07, GS13, and GS14 are homozygotes of S405P, L327P, and R468C, respectively.

Incidence of mucopolysaccharidoses in Tunisia.

Background: The mucopolysaccharidoses (MPS) are a devastating heterogenous group of lysosomal storage disorders.

Aim: To evaluate the epidemiological profile of MPS in Tunisia.

Methods: we conducted a retrospective epidemiological survey covering the period 1970-2005.

Interplay of socio-economic factors, consanguinity, fertility, and offspring mortality in Monastir, Tunisia.

Aim: To assess the association among social status, prevalence of consanguineous marriages, and the effects of consanguinity on reproductive behavior and mortality in Tunisia.

Methods: The study included data on a total of 1741 live-births born from November 1989 to October 1990 in the maternity ward of the University-Hospital Fattouma Bourguiba of Monastir, Tunisia. After delivery, women filled out a questionnaire on the age of the parents at marriage, the number of pregnancies and abortions, the number of neonatal and post-neonatal deaths, and deaths of children under 5 years.

Association among education level, occupation status, and consanguinity in Tunisia and Croatia.

Aim: To investigate the association between education level, occupation status (a proxy for socio-economic status), and consanguinity in 2 large data sets from Tunisia and Croatia countries with different attitudes toward consanguinity.

Methods: The sample of 1016 students, attending 5 university institutions in Monastir, Tunisia, were interviewed about the educational level and occupation status of their parents and the degree of parental relatedness. In Croatia, a sample of 1001 examinees from 9 isolated island populations was interviewed about their own educational level, occupation status, and consanguinity.

Segmental dilatation of the intestine.

Purpose: The aim of this work is to discuss the pathogenesis of the segmental dilatation of the intestine (SDI) and to review its clinical presentation and the ways to confirm the diagnosis.

Methods: Eight cases of pathologically proven SDI from 1987 to 2003 were reviewed and discussed. There were 7 newborns and a 1-year-old boy.

[Congenital abdominal infrarenal aortic aneurysm in infants: 2 case reports and literature review].

Abdominal aortic aneurysm is extremely rare in infant and is generally due to infection, umbilical artery catheterization, vasculitis, connective tissue diseases and tuberous sclerosis. At the absence of these evident causes, it is a congenital primary aortic aneurysm which is exceedingly rare and only a few cases have of which have been reported. Here we report two cases of aortic wall reconstruction done by a Gore tex patch.