Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative phosphorylation deficiency.

Biallelic variants in result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

The mitoribosome synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders, and frequently show combined oxidative phosphorylation deficiency.

Selection and characterization of thermotolerant Beauveria bassiana isolates and with insecticidal activity against the cotton-melon aphid Aphis gossypii (Glover) (Hemiptera: Aphididae).

Background: Cotton-melon aphid Aphis gossypii (Glover) causes severe damage mainly to cucurbits. Twenty-two Beauveria sp. isolates were simultaneously assessed for their pathogenicity and heat tolerance.

Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study.

Objective and methods To evaluate variation of capillary phenylalanine concentrations over the day in patients treated for phenylketonuria and the reliability of the morning sample to assess metabolic control, we conducted a repeated cross-sectional study in 25 Tunisian patients on phenylalanine-low diet. For each patient, we collected nine capillary samples over the day. Phenylalanine was dosed by fluorimetry.

Role play for genetic counseling learning: Value and students perceptions.

Background: Performing genetic counseling is one of the tasks of every paediatrician. This assumes prior training during the residency.

Aim: To assess the impact of role-play (RP) for training of paediatric residents in genetic counseling and participants' perception.

Factors predictive of prognosis of infantile spasms. A retrospective study in a low-income country.

Purpose: To describe the management of infants with epileptic spasms (ESs) in a low-income country and identify factors predictive of their prognosis.

Material And Methods: We conducted a retrospective study in a university hospital in Tunis, Tunisia, over a period of 10 years. We included infants with recurrent ESs.

Patient-management Problem (PMP) for paediatrics learning: Value and students perceptions.

Background: The use of the pedagogic tool Patient-Management Problem (PMP) for medical teaching and evaluation remains limited in Tunisia.

Aim: to evaluate the value of PMP learning sessions in pediatrics and students' perception of the use of PMP for learning and evaluation.

Methods: We conducted a cross-sectional evaluative study in four pediatric departments in Tunis.

Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients.

Background: Our aim was to describe the natural history of neuromuscular involvement (NMI) in glycogen storage disease type III (GSDIII).

Methods: We conducted a longitudinal study of 50 Tunisian patients, 9.87 years old in average.

Correction to: Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study.

Following publication of the original article [1], one of the authors flagged that the title of the article was submitted (incorrectly) with "Full title:" at the beginning.

A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.

Background Glycogen storage disease type III (GSDIII), due to a deficiency of glycogen debrancher enzyme (GDE), is particularly frequent in Tunisia. Phenotypic particularities of Tunisian patients remain unknown. Our aim was to study complications of GSDIII in a Tunisian population and to explore factors interfering with its course.

High Frequency of Cardiovascular Complications in Tunisian Kawasaki Disease Patients: Need for a Further Awareness.

Background: The outcome of Kawasaki disease (KD) depends on cardiovascular complications (CVCs).

Objectives: This study aimed to explore diagnostic features and CVCs in Tunisian patients with KD.

Methods: In total, 33 Tunisian patients (age, 2.

Peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study.

Background: Peripheral venous catheterization (PVC) is frequently used in children. This procedure is not free from potential complications. Our purpose was to identify the types and incidences of PVC complications in children and their predisposing factors in a developing country.

Neuroendocrine differentiation in basal cell carcinoma.

Basal cell carcinoma (BCC) is the prototypical basaloid tumor of the skin. It may show various patterns simulating other cutaneous tumors due to its pleomorphism. It may have an unusal pattern of differentiation such as squamous, sebaceous, apocrine, eccrine, pilar, and endocrine differentiation.

Two cases of sudden death due to pulmonary tumor thrombotic microangiopathy caused by occult gastric carcinoma.

We present two cases of occult gastric carcinoma associated to a large pulmonary tumors thrombosis microangiopathy (PTTM). The first case is a 28 years-old man. He was dead due to a respiratory failure.

A highly versatile optical fibre vacuum feed-through.

Coupling light into a vacuum system is a non-trivial problem, requiring the use of a specialized feed-through. This feed-through must be both leak tight and offer a low optical loss if it is to be suitable for general use. In this paper, we report on the development of an extremely simple yet versatile, low cost, demountable optical fiber vacuum feed-through based on the modification of a standard optical fiber bulkhead connector.