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.

Insights on the Tunisian Prickly Pear Molasses as a Potential Antifibrotic and Antioxidant Candidate against Lung Fibrosis.

Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive interstitial disease leading to pulmonary damage and respiratory failure. We aimed to investigate the effect of prickly pear molasses (PPM) on an experimental model of pulmonary fibrosis induced by bleomycin (BLM) in Wistar rat. Animals were divided into 5 groups: the control group (G1), the BLM group (G2) and three groups (G3, G4, G5) receiving a single intra-tracheal injection of BLM (4 mg/kg) and PPM (at 2, 4.

Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

[This corrects the article DOI: 10.3389/fgene.2024.

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.

Background: Parkinson's disease is a progressive neurodegenerative disorder with multifactorial causes, among which genetic risk factors play a part. The RAB GTPases are regulators and substrates of LRRK2, and variants in the LRRK2 gene are important risk factors for Parkinson's disease. We aimed to explore genetic variability in RAB GTPases within cases of familial Parkinson's disease.

Protective Effects of Tunisian Orange Co-Product Extract and Oleuropein-Hesperidin Combination on Bleomycin-Induced Pulmonary Fibrosis in Rats.

Idiopathic pulmonary fibrosis (IPF) is a chronic interstitial pneumonia that leads to acute lung damage, deterioration of lung function, and increased mortality risk. In this study, we investigated the effects of the orange coproduct extract (OCE) and the combination of pure hesperidin and oleuropein (HO) on an experimental model of pulmonary fibrosis induced by bleomycin (BLM) in Wistar rats. Rats were divided into six groups: the control group (G1), the BLM group (G2), three groups (G3, G4, G5) receiving a single dose of BLM combined with OCE extract at 100, 200, and 300 mg/kg, and group 6 (G6) receiving a single dose of BLM combined with HO: both pure major phenolic compounds of OCE (hesperidin at 50 mg/kg) and olive leaves (oleuropein at 2.

A gain-of-function mutation in zinc cluster transcription factor Rob1 drives Candida albicans adaptive growth in the cystic fibrosis lung environment.

Candida albicans chronically colonizes the respiratory tract of patients with Cystic Fibrosis (CF). It competes with CF-associated pathogens (e.g.

[Access to kidney transplantation for patients with end-stage renal failure in Maghreb countries: state of art and recommendations].

We present an overview of kidney transplantation activity in the Maghreb countries, based on data from the 9th Colloque France-Maghreb (Paris, May 20 and 21, 2022). For Algeria, Morocco and Tunisia, the incidence of end stage renal failure is respectively 120, 130 and 130 per million inhabitants, its prevalence 626, 900 and 833 per million inhabitants and the part of patients with a functional graft of 10.3, 1.

Bacteremia due to Serratia rubidaea in intensive care unit: a case series.

Introduction: Bacteremia caused by Serratia rubidaea is seldom mentioned in comparison with other Enterobacteriaceae species. It primarily affects immunocompromised patients undergoing invasive procedures. Furthermore, the incidence, clinical features, and microbiological profile of this pathogen in the intensive care unit are rarely described.

Cutaneous adverse effects of antiepileptic drugs.

Antiepileptic drugs (AED) are widely used in therapy. They are mainly indicated in the treatment of epilepsy and some psychiatric pathologies as well as for their analgesic action. Their cutaneous adverse effects (CAE) are common, often mild but sometimes serious.

First morphometric and molecular characterization of Fasciola spp. in Northwest Tunisia.

The aim of this study was to characterize the Tunisian Fasciola spp. flukes by morphometric and molecular analyses. Flukes were collected from livers of sheep slaughtered in Sejnane slaughterhouses (Bizerte gouvernorate, Northwest Tunisia) between January and March 2021.

Erythema Multiforme Reactions Following Pfizer/BioNTech (Tozinameran) Vaccination: Two Case-Reports with Positive Rechallenge and Review of the Literature.

Aim: Pfizer/BioNTech (BNT162b2) is a COVID-19 vaccine with a reassuring safety profile. The main adverse reactions are mild local reactions. Cutaneous reactions are generally minor.

Statin Associated Muscular Adverse Effects.

Background: Statins are widely used in the treatment of hyperlipidemia and in the prevention of cardiovascular diseases. However, they may induce muscular adverse effects that range from asymptomatic elevation of creatine kinase to life threatening rhabdomyolysis.

Objective: The aim of the study was to describe epidemiological and clinical characteristics of patients with muscular adverse effects.

Pantoprazole-induced Stevens-Johnson Syndrome: A Case-report.

Introduction: Pantoprazole is a proton pump inhibitor mainly used to treat conditions causing excess stomach acid. Stevens-Johnson syndrome (SJS) is a rare bullous disease. The main etiologic factors are drugs, especially antibiotics, anticonvulsants, oxicam and allopurinol.

First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP-C founder mutation.

Background: Xeroderma pigmentosum is an autosomal recessive disease characterized by a high sensitivity to UV radiations. The disease is clinically and genetically heterogeneous, thus making accurate early clinical diagnosis difficult. Although the disease is considered rare worldwide, previous studies have shown that it is more frequent in Maghreb countries.

and evaluation of antifungal combinations against azole-resistant isolates.

Azole resistance in (Af) has become a widespread threat and a major concern for optimal management of patients with invasive aspergillosis (IA). Combination of echinocandins with azoles is an attractive alternative option for the treatment of IA due to azole-resistant Af strains. The aim of this study was to evaluate the and combination of caspofungin (CAS) with either voriconazole (VRZ) or posaconazole (PSZ).

Widespread of the Vienna/Hungarian/Brazilian CC8-ST239-SCCmec III MRSA clone in patients hospitalized in the Tunisian Burn and Traumatology Center.

The emergence and spread of methicillin-resistant Staphylococcus aureus (MRSA) in hospitals is a major global public health concern. The current study sought to characterize 25 MRSA clinical isolates collected in a Tunisian hospital from December 2015 to September 2016, with the genetic lineages, virulence factors, and antibiotic resistance mechanisms determined for these isolates. Three spa-types were detected: t037 (23 isolates), t932, and t2235 (one isolate each).

The Delta variant wave in Tunisia: Genetic diversity, spatio-temporal distribution and evidence of the spread of a divergent AY.122 sub-lineage.

Introduction: The Delta variant posed an increased risk to global public health and rapidly replaced the pre-existent variants worldwide. In this study, the genetic diversity and the spatio-temporal dynamics of 662 SARS-CoV2 genomes obtained during the Delta wave across Tunisia were investigated.

Methods: Viral whole genome and partial S-segment sequencing was performed using Illumina and Sanger platforms, respectively and lineage assignemnt was assessed using Pangolin version 1.

Chemical Composition of L. Methanolic Extract and Volatile Oil: ADME Properties, In Vitro and In Silico Screening of Antimicrobial, Antioxidant and Anticancer Activities.

In the present study, the chemical composition of the volatile oil and methanolic extract from Boiss. was investigated. The antimicrobial, antioxidant, and anticancer activities of the methanolic extract from aerial parts were screened using experimental and computational approaches.

A Tunisian patient with CLCN2-related leukoencephalopathy.

CLCN2-related leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the gene and leads to the dysfunction of its encoded CLC-2 chloride channel protein with characteristic brain MRI features of leukoencephalopathy. We report the first Tunisian patient with clinical features of ClCN-2-related leukoencephalopathy.

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.

Biallelic mutations in PINK1/PRKN cause recessive Parkinson's disease. Given the established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored mitochondrial DNA integrity and inflammation as disease modifiers in carriers of mutations in these genes. Mitochondrial DNA integrity was investigated in a large collection of biallelic (n = 84) and monoallelic (n = 170) carriers of PINK1/PRKN mutations, idiopathic Parkinson's disease patients (n = 67) and controls (n = 90).

Chemical Composition and the Anticancer, Antimicrobial, and Antioxidant Properties of Honey from the Hail Region: The in vitro and in silico Investigation.

In consideration of the emergence of novel drug-resistant microbial strains and the increase in the incidences of various cancers throughout the world, honey could be utilized as a great alternative source of potent bioactive compounds. In this context, this study pioneers in reporting the phytochemical profiling and the antimicrobial, antioxidant, and anticancer properties of honey (AH) from the Hail region of Saudi Arabia, assessed using and molecular docking approaches. The phytochemical profiling based on high-resolution liquid chromatography-mass spectrometry (HR-LCMS) revealed eight compounds and three small peptide-like proteins as the constituents.

Docetaxel-induced Flagellate Erythema - Case Report and Brief Review.

Introduction: Flagellate erythema is a distinctive morphologic reaction pattern recognized by whiplash-like pruritic erythematous eruption. It is usually encountered in patients receiving bleomycin. Only one case of docetaxel-induced flagellate erythema is reported in the literature.