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.

Infantile systemic hyalinosis: Variable grades of severity.

Background: Infantile systemic hyalinosis (ISH) is an autosomal recessively inherited disorder. The classical natural history of the disease is characterised by hypotonia, multiple contractures, skin lesions, osteopenia, joint pain, bone fractures, persistent diarrhoea and growth deficiency.

Materials And Methods: Two children manifested the severe type of ISH underwent genotypic confirmation.

High genotypic diversity of Rhinoviruses obtained from Tunisian children with severe acute respiratory infection.

Introduction: Rhinoviruses (HRV) are among the leading causes of Severe Acute Respiratory Infection (SARI). Their burden and genetic diversity vary from one region to another and little is known in Northern African regions. This study describes epidemiological patterns and genotypic diversity of HRV in SARI cases during a two and half year's study, in Northern Tunisia.

Hyperbaric Oxygen Therapy for Mumps-Associated Outer Retinitis with Frosted Branch Angiitis.

Purpose: To describe a case of outer retinitis with frosted branch angiitis associated with mumps infection treated with hyperbaric oxygen (HBO) therapy.

Methods: Observational case report.

Case Report: A four-year-old boy with bilateral blindness was diagnosed with necrotizing outer retinitis with frosted branch angiitis associated with serologically confirmed mumps virus infection.

Epidemiological study of bacterial meningitis in Tunisian children, beyond neonatal age, using molecular methods: 2014-2017.

Background: Since the 1990s, the epidemiology of bacterial meningitis worldwide has changed thanks to vaccination. In Tunisia, the main causative pathogens were and serotype b (Hib). Only Hib vaccination was available during our study period.

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.

Glucose-6-phosphate dehydrogenase deficiency in Tunisian jaundiced neonates.

Background And Objectives: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy worldwide associated with hemolysis as well as neonatal jaundice, kernicterus, and even death. The goal of this study is to determinate the prevalence of G6PD deficiency in icteric neonates and to investigate its biochemical, hematological and molecular characteristics.

Patients And Methods: This cross sectional study was carried out on 154 icteric newborns admitted to the Bechir Hamza Children's Hospital in Tunisia.

'Go for it, dream big, work hard and persist': A message to the next generation of CF leaders in recognition of International Women's Day 2020.

The focus for International Women's Day 2020 is gender equity:'We can actively choose to challenge stereotypes, fight bias, broaden perceptions, improve situations and celebrate women's achievements. Collectively, each one of us can help create a gender equal world.' We have come together as an international group of women holding senior positions within CF to raise awareness.

A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del.

Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced amount of transferrin. In this study, we describe the first case of congenital atransferrinemia in Tunisia and the 18th patient in the reported data. The patient was referred to our hospital to explore a severe hypochromic and microcytic anemia.

Phenotypic and genotypic characterization of meningococcal isolates in Tunis, Tunisia: High diversity and impact on vaccination strategies.

Objectives: The aim of this study was to characterize Neisseria meningitidis (Men) isolates in Tunisian paediatric patients with invasive meningococcal disease (IMD) in order to target therapeutic and preventive strategies.

Methods: Fifty-nine isolates of Men and four cerebrospinal fluid samples that were culture-negative but Men-positive by PCR (NC-MenPPCR) (2009-2016) were collected from IMD patients. Isolates were analysed for their antimicrobial susceptibility.

Cystic fibrosis in Tunisian children: a review of 32 children.

Background: Cystic fibrosis is rare in Tunisia. Its diagnosis requires experienced specialists. Its prognosis is poor in developing countries.

Hemophagocytic lymphohistiocytosis associated with an IgG Cold agglutinin.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease eventually caused or reactivated by a viral infection, which can also lead to the production of cold agglutinins (CA). The nature of these autoantibodies is usually an IgM, less frequently an IgA or IgG, they agglutinate red blood cells at low temperatures. They can interfere with hematological parameters causing interpretation difficulties.

Molecular diagnosis of bacterial meningitis by multiplex real time PCR in Tunisian children.

Introduction: Bacterial meningitis is a medical emergency requiring a fast and reliable diagnosis. Molecular methods such as real-time PCR (rt-PCR) offer an attractive alternative. Thus, this study aims to establish multiplex rt-PCRs detecting N.

A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.

Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Mutations in PGM3 gene have been recently shown to underlie a new congenital disorder of glycosylation often associated to elevated IgE. Herein, we report twelve PGM3 deficient patients.

Fibrinogen Mahdia: A congenitally abnormal fibrinogen characterized by defective fibrin polymerization.

Introduction: Congenital dysfibrinogenemia is a rare qualitative fibrinogen deficiency. Molecular defects that result in dysfibrinogenemia are usually caused by mutations which affect fibrinopeptide release, fibrin polymerization, fibrin cross-linking or fibrinolysis.

Aim: Here, we investigated the genetic basis of hypodysfibrinogenemia in two Tunisian siblings with major bleeding.

Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy.

Background: Primary ciliary dyskinesia (PCD) is rare. Its diagnosis requires experienced specialists and expensive infrastructure. Its prognosis is variable.

Flexible bronchoscopy contribution in the approach of diagnosis and treatment of children's respiratory diseases: the experience of a unique pediatric unit in Tunisia.

Objective: Our study aimed at assessing the role of flexible bronchoscopy (FB) in improving diagnosis and management of children's respiratory conditions in the pediatric unit of FB, newly created and unique in Tunisia.

Methods: Retrospective study including all the FB achieved in our pediatric unit from 2009 to 2014.

Results: We performed 365 FB in 333 patients aged 46 months on average (1 month - 15 years), often under conscious anesthesia (81.

Hypodysfibrinogenemia: A novel abnormal fibrinogen associated with bleeding and thrombotic complications.

Background: Congenital disorders of fibrinogen are rare diseases resulting in the complete absence (afibrinogenemia), reduced concentration (hypofibrinogenemia) or altered function of circulating fibrinogen (dysfibrinogenemia). A combination of two different fibrinogen abnormalities with a significant functional and secretion defect (hypodysfibrinogenemia) reported in Tunisian family members, was investigated in this study.

Methods: The coagulation-related tests, kinetics of fibrin polymerization and lysis and fibrinogen analysis using gel electrophoresis were performed in the family members to characterize fibrinogen abnormalities.

Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen Aα and Bβ chain mutations in two Tunisian families.

Introduction: Inherited abnormalities of fibrinogen (FG) are rare coagulation disorders divided into two types: quantitative abnormalities (afibrinogenemia and hypofibrinogenemia) or qualitative abnormalities (dysfibrinogenemia and hypo-dysfibrinogenemia) of circulating fibrinogen. In particular, congenital afibrinogenemia is inherited as an autosomal recessive mode and is usually determined by homozygous or compound heterozygous mutations affecting any of the three fibrinogen genes (FGA, FGB and FGG), resulting in the complete absence or extremely reduced amount of fibrinogen. The aim of the present study was to characterize the fibrinogen abnormalities in two Tunisian families.

Prenatal diagnosis of cystic fibrosis: 10-years experience.

Purpose: We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population.

Patients And Methods: Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling.