A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease

Lethal white foal syndrome (LWFS) is a congenital anomaly of horses characterized by a white coat colour and aganglionosis of the bowel, which is similar to Hirschsprung disease (HSCR). We decided to investigate possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as recent studies in mutant rodents and some patients have demonstrated EDNRB defects. First, we identified a full-length cDNA for horse EDNRB . This cDNA fragment contained a 1329 bp open reading frame which encoded 443 amino acid residues. The predicted amino acid sequence was 89, 91 and 85% identical to human, bovine and mouse as well as rat EDNRB respectively, but only 55% identical to the human, bovine and rat endothelin A receptor (EDNRA). Secondly, sequence analysis, together with allele-specific PCR and the amplification- created restriction site (ACRS) technique, revealed a dinucleotide TC-- >AG mutation, which changed isoleucine to lysine in the predicted first transmembrane domain of the EDNRB protein. This was associated with LWFS when homozygous and with the overo phenotype when heterozygous.      

Informed consent, parental awareness, and reasons for participating in a randomised controlled study

BACKGROUND: The informed consent procedure plays a central role in randomised controlled trials but has only been explored in a few studies on children. AIM: To assess the quality of the informed consent process in a paediatric setting. METHODS: A questionnaire was sent to parents who volunteered their child (230 children) for a randomised, double blind, placebo controlled trial of ibuprofen syrup to prevent recurrent febrile seizures. RESULTS: 181 (79%) parents responded. On average, 73% of parents were aware of the major study characteristics. A few had difficulty understanding the information provided. Major factors in parents granting approval were the contribution to clinical science (51%) and benefit to the child (32%). Sociodemographic status did not influence initial participation but west European origin of the father was associated with willingness to participate in future trials. 89% of participants felt positive about the informed consent procedure; however, 25% stated that they felt obliged to participate. Although their reasons for granting approval and their evaluation of the informed consent procedure did not differ, relatively more were hesitant about participating in future. Parents appreciated the investigator being on call 24 hours a day (38%) and the extra medical care and information provided (37%) as advantages of participation. Disadvantages were mainly the time consuming aspects and the work involved (23%). CONCLUSIONS: Parents' understanding of trial characteristics might be improved by designing less difficult informed consent forms and by the investigator giving extra attention and information to non-west European parents. Adequate measures should be taken to avoid parents feeling obliged to participate, rather than giving true informed consent.     

Design of Green Silver Nanoparticles Based on Primula Officinalis Extract for Textile Preservation

The present study aims to bring an addition to biomass resources valorization for environmental-friendly synthesis of nanoparticles. Thus, the green synthesis of silver nanoparticles (AgNPs) was performed, using a novel and effective reducing agent, Primula officinalis extract. The synthesis was optimized by monitoring the characteristic absorption bands, using UV–Vis spectroscopy, and by evaluating the size and physical stability. The phenolic consumption was established using Folin-Ciocâlteu method (1.40 ± 0.42 mg, representing ~5% from the total amount of poly--phenols) and the antioxidant activity was evaluated using chemiluminescence and TEAC methods. The optimum ratio extract to Ag ions was 1:3, for which the AgNPs presented a zeta potential value of −29.3 ± 1.2 mV and particles size of 5–30 nm. For characterization, EDS and XRD techniques were used, along with microscopy techniques (TEM). The AgNPs dispersions were applied on natural textile samples (cotton and wool), as a novel antimicrobial treatment for textile preservation. The treated fabrics were further characterized in terms of chromatic parameters and antimicrobial effect against Escherichia coli, Staphylococcus aureus, Bacillus subtilis, and Penicillium hirsutum strains. The high percentages of bacterial reduction, >99%, revealed that the AgNPs produced are a good candidate for textiles preservation against microbial degradation.     

Non-Aqueous Electrodeposition and Characterization of AlCrCuFeNi High Entropy Alloy Thin Films

Materials used in the marine industry are exposed to extreme conditions, so it is necessary to meet remarkable characteristics, such as mechanical resistance, low density, and good corrosion resistance. The challenging environment requires continuous performance improvements, so this work is focused on developing new materials with superior properties, using the electrochemical deposition technique, which are convenient for marine engineering. High-entropy alloys have been attracting tremendous interest in many applications, due to their simple crystal structures and advantageous physical-chemical properties, such as high strength, anti-corrosion, erosion, and electro-magnetic capabilities. To identify the most appropriate compositions, MatCalc software was used to predict the structure and characteristics of the required materials, and thermodynamic and kinetic criteria calculations were performed. The modelling processes generated a series of optimal compositions in the AlCrCuFeNi alloy system, that are suitable to be used in anticorrosive and tribological applications. The composition and morphology of the obtained high entropy alloy thin films revealed a uniform structure, with a small grain profile. The corrosion resistance was investigated in artificial seawater to observe the behavior of the newly developed materials in demanding conditions, and the results showed improved results compared to the copper foil substrate.     

Rapid diagnosis of glucocorticoid suppressible hyperaldosteronism in infants and adolescents

Glucocorticoid suppressible hyperaldosteronism (GSH) is an uncommon form of dominantly inherited hypertension. Presentation with hypertension and complications such as stroke in early life are well recognised. The use of a simple genetic test carried out on blood or placenta facilitates the detection of infants and children with GSH before the development of hypertension, allowing prompt treatment of hypertension if it occurs, and an opportunity to study the effects of growth and environmental influences on the progression of the condition.     

COVID-19 vaccination and recurrent anterior uveitis

A 35-year-old Asian Indian female previously diagnosed with bilateral anterior uveitis and on oral methotrexate developed bilateral anterior uveitis following first/second dose of coronavirus disease 2019 (COVID-19) vaccination. She had skipped her weekly dose of oral methotrexate following first dose of vaccination. Following the second dose, she reduced her oral methotrexate from 25 to 15 mg on her own, but did not stop like the previous occasion. She had extensive workup for her uveitis in the past with only positive severe acute respiratory syndrome coronavirus (SARS-CoV-2) antibodies. She developed unilateral anterior uveitis after she had COVID-19 in July 2022, which resolved with topical steroids and continuation of immunosuppression. This report illustrates that COVID-19 or its vaccination may presumably play a role in triggering the immune system and can cause recurrent ocular inflammation even in the absence of an extraocular inflammation.     

Flexural strength,biocompatibility, and antimicrobial activity of a polymethyl methacrylate denture resin enhanced with graphene and silver nanoparticles

Clinical Oral Investigations - The study evaluates the effect of adding graphene-Ag nanoparticles (G-AgNp) to a PMMA auto-polymerizing resin, with focus on antibacterial activity, cytotoxicity,...     

Imaging diagnosis and quantification of hepatic steatosis: is it an accepted alternative to needle biopsy?

Hepatic steatosis is a frequently encountered disease in medical practice and it has a great importance due to the potential evolution towards cirrhosis. The clinical and laboratory evaluation has a quite reduced positive predictive value. On the other hand, a series of imaging techniques may be used for the diagnosis and quantification of steatosis: magnetic resonance imaging, computerized tomography, and not least, ultrasonography. The contribution of each of the afore mentioned methods in the diagnosis of the hepatic steatosis will be discussed.     

Conservative management of unilateral condylar hyperplasia

Objective

The purpose of this study was to eliminate orthodontic treatment in mild to moderate cases of condylar hyperplasia in its early stages by condylectomy.

Patients and methods

A total of five patients (two females and three males) aged between 17 and 40 years were treated with unilateral condylectomy of the involved side without orthodontic treatment. All patients underwent standardized clinical and radiological examination at initial consultation, before surgery, immediately after surgery, and follow-up. Objective and subjective evaluation of temporomandibular joint (TMJ) included maximal incisal opening, lateral excursions, correction of facial asymmetry, occlusal harmony, TMJ pain, and jaw function. Results were recorded at 5-year follow-up.

Results

In all our cases, we achieved good mouth opening and near to normal occlusion. Good facial aesthetics was obtained after 3 months postoperative follow-up without secondary orthodontic treatment.

Conclusion

Thus, we conclude that treatment of mild to moderate cases of unilateral condylar hyperplasia during the inactive phase can be treated with condylectomy without orthodontic treatment, and it significantly improves long-term surgical outcomes.