Invasive Infections in Children in Vaccine Era: Phenotypic and Genotypic Characterization Tunis, Tunisia.

The changing epidemiological profile of invasive infections (IIHi) is noted in the post-vaccination era. The aim of this study was to characterize phenotypically and genotypically invasive (Hi) isolates detected in Tunisian pediatric patients. A retrospective study was conducted in the microbiology laboratory of the Children's Hospital of Tunis over ten years (2013-2023).

Characteristics and etiologies of short stature in children: Experience of an endocrine clinic in a Tunisian tertiary care hospital.

Background: Short stature is a common reason for referral to pediatric endocrinology clinics. It may be a manifestation of a pathological condition requiring early treatment. The aim of this study was to describe the characteristics and etiologies of short stature among children referred to the pediatric endocrinology clinic of the main pediatric tertiary care center in Tunisia.

Congenital hypothyroidism presenting with reversible renal impairment: an under-recognised problem?

Background: Hypothyroidism with impairment of renal function and raised creatinine phosphokinase (CPK) is described in adults and children with acquired hypothyroidism, but not in congenital hypothyroidism.

Case Presentation: A male infant born at term weighing 3390 g was seen aged 2 months with prolonged jaundice. Examination showed somnolence, umbilical hernia, enlarged fontanelles and lower limb edema; length 55 cm (-1.

Influenza A/H1N1 pdm 09 in children's Hospital Bechir Hamza of Tunis.

Background: Influenza A (H1N1) is a contagious acute respiratory infection caused a pandemic in 2009. The outcome was variable among populations.

Aim: To describe a clinical spectrum and the outcome of Tunisian children with pandemic H1N1/09 influenza virus.

A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.

Chronic granulomatous disease (CGD) is the prototypic functional neutrophil disorder caused by genetic defects in one of the five genes encoding the superoxide-generating nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase subunits of phagocytes. Mutations causing the most prevalent form of CGD in western populations are located in the X-linked-CYBB gene. The four remaining autosomal recessive (AR) forms collectively account for one-third of CGD cases.

δ0-Thalassemia in cis of βKnossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (C→T) in thalassemia intermedia Tunisian patients.

Background: β-Thalassemia is the most common disease among hemoglobinopathies in North African and Arab populations. In the present study we report the first description of the β-Knossos codon27 (G→T) (βKnossos) allele in cis with the δ059 (-A) mutation in thalassemia intermedia patients in Tunisia and Libya.

Methods: This identification was carried out by sequencing analysis of the whole coding regions of the δ- and β-globin genes.

Datura stramonium L. poisoning in a geophagous child: a case report.

Datura stramonium L. (DS) is a wild-growing plant widely distributed and easily accessible. It contains a variety of toxic anticholinergic alkaloids such as atropine, hyoscamine, and scopolamine.

Abdominal tuberculosis in children.

Background: Abdominal tuberculosis (TB) includes infection of the gastrointestinal tract, peritoneum, mesentery, abdominal lymph nodes, liver, spleen, and pancreas. The most common forms of abdominal TB in children are adhesive peritonitis and nodal disease.

Patients And Methods: We report our experience with abdominal TB treated in our hospital from 1995 to 2008.

Extra-pulmonary tuberculosis in children: a study of 41 cases.

Background: Extrapulmonary tuberculosis accounts for up to one third of all cases of tuberculosis and children show a higher predisposition to the development of extra-pulmonary tuberculosis.

Aim: To review the clinical features of the extrapulmonary tuberculosis in children.

Methods: forty one children with extrapulmonary tuberculosis followed in the Children Hospital of Tunis between January 1995 and December 2007 were reviewed.

Central system nervous tuberculosis in infants.

The lack of specific symptoms and signs in patients with tuberculous meningitis makes early diagnosis difficult. In this report, we reviewed the clinical features and laboratory findings of 6 infants with central system nervous tuberculosis during a 10-year period. One of the patients had multifocal tuberculosis.

Etiology and outcome of bronchiectasis in children: a study of 41 patients.

Background: Bronchiectasis remains an important cause of chronic suppurative lung disease in the developing world. The aim of this study is to describe the epidemiological characteristics, clinical features, underlying aetiologies and outcome of bronchiectasis in the paediatric hospital of Tunis.

Methods: A retrospective study of 41 children with bronchiectasis was conducted between January 1994 and December 2006.

[Chronic granulomatous disease in childhood].

Chronic granulomatous disease (GCD) of childhood is a rare inherited immunodeficiency. It is characterized clinically by the occurrence of severe and recurrent uncontrollable infections, which often lead to death in early childhood. The underlying biologic anomaly is a defective microbicidal capacity of phagocytosis with abnormal oxidative response during phagocytosis.

[Epidemiologic profile and management pediatric medical emergencie's consultants of Tunisian child's hospital].

Background: the pediatric medical emergencie's of Tunisian child's hospital service manages all children fifteen years old. It receives 45,000 children in year in average.

The Aims: Establish an epidemiologic profile of consultants and study the encountred morbidity.

[Hyperlipidaemia associated to inaugurated diabetic ketoacidosis].

Severe hyperlipidaemia in presenting diabetic ketoacidosis was rarely reported in child. We report the case of a three-year-old girl with presenting diabetic ketoacidosis. Family history was negative for hyperlipidaemia.

[Chronic septic granulomatosis in children revealed by invasive pulmonary aspergillosis].

Chronic granulomatosis disease (GCD) is a hereditary abnormality of phagocytic cells, frequently revealed by invasive pulmonary Aspergillosis. The authors report the case of 8 year old girl investigates for hypotrophia, reccurent lung disease and hemoptysia. She was treated for pulmonary tuberculosis because of biological inflammatory syndrome, right alveolar opacity and positive tuberculin skin test.

Childhood leishmaniasis: report of 106 cases.

In Tunisia there are three epidemic clinical forms of cutaneous leishmaniasis. They are associated with three different species of Leishmania and are observed in different geographical areas. We undertook a single-center retrospective analysis of childhood leishmaniasis in order to describe epidemio-clinical profile, therapeutic characteristics and clinical outcomes of affected patients.

The rapid effects of 1,25-dihydroxyvitamin D3 require the vitamin D receptor and influence 24-hydroxylase activity: studies in human skin fibroblasts bearing vitamin D receptor mutations.

If both rapid and genomic pathways may co-exist in the same cell, the involvement of the nuclear vitamin D receptor (VDR) in the rapid effects of 1,25-dihydroxyvitamin D(3) (1,25-(OH)(2)D(3)) remains unclear. We therefore studied rapid and long term effects of 1,25-(OH)(2)D(3) in cultured skin fibroblasts from three patients with severe vitamin D-resistant rickets and one age-matched control. Patients bear homozygous missense VDR mutations that abolished either VDR binding to DNA (patient 1, mutation K45E) or its stable ligand binding (patients 2 and 3, mutation W286R).