Antinuclear antibodies in children: clinical signification and diagnosis utility

Background: Antinuclear antibodies (ANA) test is used to screen adults as well as children for connective tissue diseases (CTD) and autoimmune hepatitis. However, interpretation of ANA positivity can be delicate. Aim: to determine clinical significance and diagnosis utility of ANA positivity in children. Methods: Patients from a general pediatric department with ANA positive results were included (follow-up period of 2 years). ANA screening was performed by indirect immunofluorescence (IIF) on HEp-2 cells substrate (BioSystems^®). In case of ANA positivity (cut-off: 1:80), the specificity was determined by IIF on Crithidia luciliea substrate (BioSystems^®) and immunodot (Euroimmun^®). Results: Among 102 ANA tests, 55 (53,9%) were positive. We recorded the data of 38 patients (age average: 9,5 years - sex ratio: 0.72). The most frequent signs were join pain (55,3%). ANA titer varied between 1:80 (39,5% of cases) and 1:1280 (2,6% of cases). Typing was negative in 89,5% of cases. The majority (42,1%) of children with positive ANA test had musculoskeletal diseases. The others (57,9%) had systemic lupus erythematosus(n=2), overlap syndrome(n=1), rheumatoid purpura(n=2), idiopathic thrombocytopenic purpura(n=1), coeliac disease(n=1) or non-autoimmune diseases/no confirmed diagnosis(n=15). Conclusions: ANA prevalence in children was relatively high. When the pretest probability is low, the positive predictive value for CTD or autoimmune hepatitis is low. However, depending on the clinical context, ANA detection can represent a supplement diagnostic tool for these diseases and/or can lead to a clinico-biological monitoring.     

Apport de la simulation dans l'apprentissage de l'examen du fond d'œil.

Introduction: Simulation is emerging as an essential part of health sciences training programs as it provides safer patient care by reducing the risk of error. In the healthcare environment, simulation continues to spread in emergency specialties, but it is still underdeveloped in ophthalmology and there is a shortage of publications on this subject in Tunisia. Objective: To evaluate the effectiveness of procedural simulation as a teaching tool for funduscopic examination training. Methods and population studied: This was a prospective study including students who underwent procedural simulation training sessions during their ophthalmology internship. The included students were assessed at the initiation and end of each session by a pre-test and post-test. The procedure for performing the funduscopic examination was evaluated by a specific performance score. Student satisfaction was assessed at the end of each session. Results: During the study period, four groups of 12 students were included, for a total of 48 participants spread over 4 simulation sessions. Simulation training improved post-test. assessment scores with an overall median delta of +4.00. It also provided specific skills for performing the funduscopic examination, with an overall median specific performance score of 5.5/8 (5/8 to 7/8). The majority of students were satisfied upon completion of the simulation session. Conclusion: The training of fundus examination using an ophthalmoscopic simulator can improve the skills and knowledge of ophthalmic learners. This type of training can be an innovative addition to traditional learning. methods.     

In-depth study of bio-oil and biochar production from macroalgae Sargassum sp. via slow pyrolysis

Sargassum is undoubtedly one of the most predominant brown macroalgae, posing a significant disposal problem for coastal areas worldwide. The effective valorization of Sargassum sp. would be beneficial not only for environmental mitigation but also for producing high-value chemicals. However, the valorization of Sargassum sp. for bio-oil and biochar production via slow pyrolysis has not been well studied yet. Hence, this study aimed to conduct a comprehensive investigation into bio-oil and biochar production from Sargassum sp. via slow pyrolysis to provide valuable data for further valorization. A batch reactor was employed, and the pyrolysis of Sargassum sp. was conducted in a temperature range of 400–600 °C and with retention times of 10–50 min. The results showed significant compounds could be identified in bio-oil from Sargassum sp., including carboxylic acids, furan derivatives, aliphatic hydrocarbons, and N-aromatic compounds. Based on the ultimate analysis, the H/C and O/C atomic ratios of biochar were lower than the feedstock, reflecting the occurrence of dehydration and decarboxylation reactions throughout the pyrolysis. Biochar exhibited calorific values in the range of 23.12–25.89 MJ kg⁻¹, indicating it has more potential to be used as a solid fuel than low-ranked coals. Surface morphological analysis was performed by scanning electron microscopy (SEM) and showed a larger surface area in biochar than in the algal feedstock. Furthermore, a reaction model was deduced, and it was confirmed that the pyrolysis reaction obeyed the Arrhenius behaviour. Overall, the slow pyrolysis of Sargassum sp. provides an opportunity to obtain value-added chemicals and biochars, which could be further utilized for other applications.

Slow pyrolysis of brown macroalgae (Sargassum sp.) for bio-oil and biochar production.     

The future of drug eluting stents

In-stent restenosis (ISR) is the major drawback of percutaneous coronary interventions, occurring in 10-40% of patients. Drug eluting stents (DES) are successful in a large majority of patients in preventing restenosis for the first year after implantation. Recently, new stents have emerged that are loaded with anti-inflammatory, antimigratory, antiproliferative, or pro-healing drugs. These drugs are supposed to inhibit inflammation and neointimal growth and subsequently ISR. The future of DES lies in the development of better stents with new stent designs, better polymers including biological polymers and biological biodissolvable stent coatings, and new, better drugs.     

Cellulose Nanofibrils as a Damping Material for the Production of Highly Crystalline Nanosized Zeolite Y via Ball Milling

Nanosized zeolite Y is used in various applications from catalysis in petroleum refining to nanofillers in water treatment membranes. Ball milling is a potential and fast technique to decrease the particle size of zeolite Y to the nano range. However, this technique is associated with a significant loss of crystallinity. Therefore, in this study, we investigate the effect of adding biodegradable and recyclable cellulose nanofibrils (CNFs) to zeolite Y in a wet ball milling approach. CNFs are added to shield the zeolite Y particles from harsh milling conditions due to their high surface area, mechanical strength, and water gel-like format. Different zeolite Y to CNFs ratios were studied and compared to optimize the ball milling process. The results showed that the optimal zeolite Y to CNFs ratio is 1:1 to produce a median particle size diameter of 100 nm and crystallinity index of 32%. The size reduction process provided accessibility to the zeolite pores and as a result increased their adsorption capacity. The adsorption capacity of ball-milled particles for methylene blue increased to 29.26 mg/g compared to 10.66 mg/g of the pristine Zeolite. These results demonstrate the potential of using CNF in protecting zeolite Y particles and possibly other micro particles during ball milling.     

Genetic basis of neurodevelopmental disorders in 103 Jordanian families

We recruited 103 families from Jordan with neurodevelopmental disorders (NDD) and patterns of inheritance mostly suggestive of autosomal recessive inheritance. In each family, we investigated at least one affected individual using exome sequencing and an in-house diagnostic variant interpretation pipeline including a search for copy number variation. This approach led us to identify the likely molecular defect in established disease genes in 37 families. We could identify 25 pathogenic nonsense and 11 missense variants as well as 3 pathogenic copy number variants and 1 repeat expansion. Notably, 11 of the disease-causal variants occurred de novo. In addition, we prioritized a homozygous frameshift variant in PUS3 in two sisters with intellectual disability. To our knowledge, PUS3 has been postulated only recently as a candidate disease gene for intellectual disability in a single family with three affected siblings. Our findings provide additional evidence to establish loss of PUS3 function as a cause of intellectual disability.     

Gastrointestinal manifestations in severe scorpion envenomation

OBJECTIVES: To evaluate the type and incidence of gastrointestinal manifestations secondary to scorpion envenomation and their prognostic significance. PATIENTS AND METHODS: All patients admitted to our ICU for scorpion envenomation were included in this retrospective chart review of a 13-year period (1990 - 2002). RESULTS: During the study period, 951 patients were admitted for scorpion envenomation and 72 (7.6%) died. Ages ranged from 0.5 to 90 years with a mean of 14.7 +/- 17.4 years. Gastrointestinal symptoms were present in 700 patients (73.6%): nausea in 24 (2.5%), vomiting in 687 (72.2%) and diarrhea in 41 patients (4.3%). At univariate analysis, the presence of diarrhea was associated with a fatal outcome (P < 0.05). Diarrhea was also correlated with other indicators of severe envenomation and poor prognosis: respiratory failure (P = 0.01), neurological failure (P < 0.0001), liver failure (P < 0.0001) and low blood pressure requiring catecholamine support (P = 0.02). The multivariate analysis showed that young age (age less than 5 years), fever > 38.5 degrees C, neurological failure and pulmonary edema were independent factors of severity. Digestive disorders were more frequent in children and in this subgroup diarrhea appeared to be associated with poor outcome. In a subset of patients for whom data were available, fatal cases demonstrated significantly higher liver enzymes levels on admission. CONCLUSION: In Tunisia, gastrointestinal symptoms are often observed in severe scorpion envenomations, especially in young patients. In children, diarrhea and elevated liver enzymes are associated with poor prognosis.     

The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity

Neuronal disorders, like Huntington's disease (HD), are difficult to study, due to limited cell accessibility, late onset manifestations, and low availability of material. The establishment of an in vitro model that recapitulates features of the disease may help understanding the cellular and molecular events that trigger disease manifestations. Here, we describe the generation and characterization of a series of induced pluripotent stem (iPS) cells derived from patients with HD, including two rare homozygous genotypes and one heterozygous genotype. We used lentiviral technology to transfer key genes for inducing reprogramming. To confirm pluripotency and differentiation of iPS cells, we used PCR amplification and immunocytochemistry to measure the expression of marker genes in embryoid bodies and neurons. We also analyzed teratomas that formed in iPS cell-injected mice. We found that the length of the pathological CAG repeat did not increase during reprogramming, after long term growth in vitro, and after differentiation into neurons. In addition, we observed no differences between normal and mutant genotypes in reprogramming, growth rate, caspase activation or neuronal differentiation. However, we observed a significant increase in lysosomal activity in HD-iPS cells compared to control iPS cells, both during self-renewal and in iPS-derived neurons. In conclusion, we have established stable HD-iPS cell lines that can be used for investigating disease mechanisms that underlie HD. The CAG stability and lysosomal activity represent novel observations in HD-iPS cells. In the future, these cells may provide the basis for a powerful platform for drug screening and target identification in HD.     

Does HIV infection contribute to increased beta-amyloid synthesis and plaque formation leading to neurodegeneration and Alzheimer’s disease?

Journal of NeuroVirology - HIV infection in the combination antiretroviral therapy (cART) era has become a chronic disease with a life expectancy almost identical to those free from this infection....