Publications by authors named "Maherzi A"

Objective: To evaluate the impact that type 1 diabetes mellitus (T1DM) in children has on parents' mental health and parents' coping with this condition.

Methods: A cross-sectional study involving, at the outpatient examination, 41 caregivers of T1DM patients who had been diagnosed for at least 6 months. We evaluated the parents' coping strategies with the Brief COPE and their depressive and anxiety symptoms with the Hospital Anxiety and Depression Scale (HADS).

View Article and Find Full Text PDF

Objective: Our study aimed to measure the health-related quality of life (QoL) of Tunisian children and adolescents with type 1 diabetes mellitus (T1MD).

Methods: This cross-sectional study included 48 patients aged 3-18 years with T1MD, diagnosed for at least 6 months, and their parents, who underwent outpatient examinations from September to December 2018. The children's QoL was assessed using the PedQL 3.

View Article and Find Full Text PDF

Background Primary immunodeficiencies (PID) are a group of heterogeneous and relatively rare diseases. Aim to determine the clinical characteristics, outcome and genetic data of primary immunodeficiencies in pediatrics patients. Methods A retrospective, descriptive and multicentered study, enrolling 33 children presenting a PID in Tunis, during a period of 22 years (1991-2012).

View Article and Find Full Text PDF

Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We describe a new case of Donohue syndrome born at 37 weeks' gestation of unrelated parents and presented with intra-uterine growth retardation, nipple hypertrophy, macropenis, distended abdomen, hirsutism and dysmorphic features. The clinical course showed failure to thrive, and episodes of alternating hypoglycemia and hyperglycemia.

View Article and Find Full Text PDF

Background: The frequency of cystic fibrosis is unknown in Tunisia, regarding the limited number of reported surveys and patients.

Aim: to determine the clinical characteristics, outcome and genetic data of cystic fibrosis in Tunisian pediatric patients.

Methods: Cases of cystic fibrosis managed at pediatric departments of Tunis, during 15 years (1997-2012), were reviewed.

View Article and Find Full Text PDF

Cushing syndrome (CS) is a rare feature of McCune-Albright syndrome. Treatments consist of bilateral adrenalectomy followed by lifelong glucocorticoid and mineralocorticoid treatment. However, cases of spontaneous remission of CS have been reported in the literature.

View Article and Find Full Text PDF

Omenn syndrome is a variant of combined severe immunodeficiency due to mutations in RAG genes. It is characterized by polymorph symptoms and lethal outcome. We report on two cases of Omenn syndrome.

View Article and Find Full Text PDF

Unlabelled: Crohn's disease occur mainly in adults. However, pediatric onset forms are not rare and have many characteristics.

Aim: to study clinical, diagnostic, therapeutic and evolutive characteristics of crohn's disease in tunisian children.

View Article and Find Full Text PDF

This work aims to estimate celiac disease prevalence in school-children in the island of Djerba and assess rapid method feasibility for screening. We screened 2064 schoolchildren by a rapid method to detect IgA anti-tissue transglutaminase and IgA deficiency. Children with positive results were tested for IgA anti-transglutaminase and anti-endomysium by conventional tests.

View Article and Find Full Text PDF

Background: The frequency of primary resistance to antibiotics in H. pylori isolates is increasing worldwide. In Tunisia, there are limited data regarding the pattern of H.

View Article and Find Full Text PDF

Objective: To elucidate the HLA DRB1, DQB1 and DQA1 polymorphism in Tunisian children with typical form of coeliac disease (CD) in comparison with those from mass screening (atypical and silent CD).

Materials And Methods: We recruited three groups: group I: 40 CD children diagnosed according to the ESPGHAN criteria. group II: 40 healthy controls matched with sex, age and geographic origin.

View Article and Find Full Text PDF

Background: Sternal cleft is an uncommon visually dramatic congenital anomaly of the chest wall. It is resulting of failure of the two lateral mesodermal sternal bars fusion by the eight weeks of gestation. Superior defects are the commonest forms, usually isolated.

View Article and Find Full Text PDF

Background: Schistosomia haematobium infection has been eradicated from Tunisia since 1980. Only some imported cases are noted each year.

Aim: The authors report nine cases of Schistosomia haematobium infection diagnosed.

View Article and Find Full Text PDF

Background: Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity. Several mutations in the TNSALP gene are identified.

Aim: The authors describe a Tunisian case having a mutation that has not been described up to now.

View Article and Find Full Text PDF

Background: Celiac disease is reported to be common among North Africans, particularly Tunisians. Nevertheless, the prevalence of coeliac disease in the general population has not been previously investigated.

Objective: This study aimed to determine the prevalence of celiac disease among children in Tunisia and to describe the clinical profile of the screened patients.

View Article and Find Full Text PDF

Leukocyte adhesion deficiency (LAD) is a rare primary immunodeficiency inherited as an autosomal recessive genetic disorder. LAD was suspected in a four days old girl. She was born from healthy first cousins.

View Article and Find Full Text PDF