Fœtal sacrococcygeal teratoma type I: A case report.

Sacrococcygeal teratoma (SCT) is a rare congenital tumor typically diagnosed in neonates, with management challenges arising from the size of the tumor and associated delivery complications. In this case, a 32-year-old gravida 5 para 5 woman with a history of three prior cesarean sections was diagnosed with a giant type I SCT at 30 weeks of gestation through prenatal ultrasound, confirmed by fetal MRI. At 34 weeks, an emergency cesarean section was performed due to acute fetal distress, resulting in a newborn with transient respiratory distress.

Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia.

Background: Leber hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) rare disease due to the pathogenic variant of the NADH dehydrogenase enzyme. LHON is characterized by a sudden central vision loss due to focal degeneration of the retinal ganglion cell layer and optic nerve. Symptoms usually appear between the age of 18 and 35 years.

[Not Available].

Introduction: Virtual reality is being used more and more in the healthcare field, particularly during treatment. In the context of pain management, the question arises as to the effectiveness of using virtual reality during care in reducing the perception of procedural pain.

Aim: To study the impact of using virtual reality on the perception of procedural pain and on the course of care in pediatric oncology.

Knowledge and perception of asthma among parents of children with asthma.

Introduction: Parents' knowledge is an integral part of healthcare quality, impacting treatment adherence, patient loyalty and healthcare utilisation in pediatric asthma. Parental knowledge is particularly crucial as parents influence decision-making for their child's healthcare.

Aim: To assess parents' knowledge and perceptions of their children's asthma and to identify areas for weakness in therapeutic education.

Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.

Background: Mucopolysaccharidosis type I is a lysosomal storage disease resulting from a deficiency in alpha-L-iduronidase (IDUA), which causes the accumulation of partially degraded dermatan sulfate and heparan sulfate. This retrospective study, spanning eight years, analyzed data from 45 MPSI patients. The report aimed to explore the potential origin of the p.

Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study.

Background: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF).

Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021.

Vitamin D status and VDR gene polymorphisms in patients with growth hormone deficiency: A case control Tunisian study.

Introduction: Growth Hormone Deficiency (GHD) is a rare disease marked by a complete or partial reduction in the production of growth hormone. Vitamin D deficiency is frequent and may be associated with several pathologies. However, the association between GHD and vitamin D deficiency has not been extensively studied.

Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.

Background: Dilated cardiomyopathy (DCM) is characterized by dilatation of the left ventricle, systolic dysfunction, and normal or reduced thickness of the left ventricular wall. It is a leading cause of heart failure and cardiac death at a young age. Cases with neonatal onset DCM were correlated with severe clinical presentation and poor prognosis.

[Not Available].

Introduction: Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease. It is caused by a deficiency in cationic amino acid transport caused by mutations in SLC7A7 gene.

Aim: To identify the clinical, diagnostic and therapeutic features of lysnuric protein intolerance.

Standards for the care of people with cystic fibrosis (CF); Planning for a longer life.

This is the final of four papers updating standards for the care of people with CF. That this paper "Planning a longer life" was considered necessary, highlights how much CF care has progressed over the past decade. Several factors underpin this progress, notably increased numbers of people with CF with access to CFTR modulator therapy.

[Not Available].

Introduction: Peritoneal dialysis (PD) is the method of choice for extra-renal replacement therapy (ERT) for children with end-stage renal disease (ESRD), because of its various advantages. However, it presents different infectious and non-infectious complications, causes of important morbidity and mortality.

Aim: To determine the mechanical complications of PD in our center and to identify risk factors of their occurrence.

[Not Available].

Introduction: Clinical reasoning (CR) is a core skill taught by medical schools. Clinical reasoning learning sessions (CRL) during hospital internship of externals in pediatrics was recently introduced in Faculty of Medicine of Tunis.

Aim: To compare a case based self-directed learning (CBSDL) tool with CRL sessions in two groups of the students assigned to pediatric internship.

Unusual onset of Graves' disease associated with thymic hyperplasia in a 5-year-old girl with congenital bilateral clinical anophthalmia: diagnostic and therapeutic challenges.

Objectives: Graves' disease (GD) is a rare auto-immune disorder in pediatric population. The association between GD and thymic hyperplasia was rarely reported in children. Diagnosis and management of GD are challenging in children.

Accurate identification of Streptococcus pseudopneumoniae and other mitis group Streptococci identified as atypical Streptococcus pneumoniae in Tunisian pediatric population.

Accurate identification of Mitis group streptococci especially Streptococcus pneumoniae and Streptococcus pseudopneumoniae seems difficult due to the lack of specific and sensitive tests. We performed an approach for the identification of atypical pneumococci in pediatric Tunisian population. In this study, 49 streptococcal isolates that were considered as atypical S.

Acute peritonitis secondary to post-traumatic appendicitis: A case report and literature review.

Background: Blunt abdominal trauma has rarely been reported as a cause of acute appendicitis in the literature. However, the coexistence of the two conditions can cause issues for the patient. We present here a systematic review of cases of traumatic appendicitis as well as our own experience with a 12-year-old male patient.

Thoracic lipoblastoma in a 7-month-old infant.

We report a rare case of a thoracic lipoblastoma in a 7-month-old infant who presented with respiratory infection, dyspnea, and a right-sided chest wall swelling. Imaging revealed a predominantly fatty mass, and biopsy confirmed the diagnosis. A right thoracotomy was performed, resulting in subtotal excision due to the tumor's friability.

Impact of Music Therapy on Quality of Life in Children with Cancer.

Background: Music therapy (MT) is a non-pharmacological treatment increasingly used to reduce stress and anxiety in hospitalized children affected by cancers. The aim of this study was to evaluate the impact of MT on quality of life in children with cancer and determine its effect on cardiorespiratory rates.

Methods: We conducted a quasi-experimental study between 1 April and 31 August 2021 at Bechir Hamza children's Hospital in Tunis, including children treated for cancer.

Cutaneous fistulization: An extremely rare presentation of hydatid liver cyst in a child.

We report the case of a 10-year-old child who presented with a renitent lesion on the left abdominal wall. Clinical, radiological, and intraoperative findings concluded to a cutaneous fistulization of a hydatid cyst of the left lobe of the liver. The diagnosis was confirmed by histopathological examination.