Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.

Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia.

Genetic analysis of L 1758 (Mollusca, Bivalvia, Pinnidae) in the Northwest Cabo Verde Islands (Central-East Atlantic).

The rough pen shell Linnaeus, 1758 (family Pinnidae) is a mollusc with an Atlantic-Mediterranean distribution, typically inhabiting coarse sandy substrates. Habitat degradation is considered the primary cause of population decline, leading to the designation 'Vulnerable' in certain regions. In this study, we conducted a genetic analysis of populations of from Cabo Verde and compared them with populations from the Mediterranean and Macaronesia.

Enhancing wine fermentation through concurrent utilization of and lactic acid bacteria ( and ) or .

Most commercially available red wines undergo alcoholic fermentation by yeasts, followed by a second fermentation with the lactic acid bacteria once the initial process is complete. However, this traditional approach can encounter complications in specific scenarios. These situations pose risks such as stalled alcoholic fermentation or the growth of undesirable bacteria while the process remains incomplete, leaving residual sugars in the wine.

Hopkins Syndrome: An Uncommon Cause of Weakness in Intensive Care Unit.

Background: Hopkins syndrome is a rare polio-like syndrome, with an incompletely understood pathophysiology, that affects children after asthma crisis.

Methods: A 10-year-old girl was admitted to the intensive care unit following a severe asthma attack, requiring mechanical ventilation for a period of five days. After regaining consciousness, the patient exhibited development of asymmetric flaccid paraparesis.

FZD5 controls intestinal crypt homeostasis and colonic Wnt surrogate agonist response.

The rapidly regenerating intestinal epithelium requires crypt intestinal stem cells (ISCs). Wnt/β-catenin signaling maintains crypt homeostasis and Lgr5+ ISCs, and WNT ligands bind Frizzled receptors (FZD1-10). Identifying specific FZD(s) essential for intestinal homeostasis has been elusive; however, bioengineered antagonists blocking Wnt binding to FZD5 and FZD8 deplete the gut epithelium in vivo, highlighting potential roles.

Exploring cognitive functions and brain structure in Hereditary Transthyretin amyloidosis using brain MRI and neuropsychological assessment.

Background: Central nervous system symptoms, such as cognitive dysfunction, have been reported in Hereditary Transthyretin Amyloidosis (ATTRv). However, there is a lack of neuroimaging studies investigating structural alterations in the brain related to cognition in ATTRv amyloidosis. This study aimed to investigate cognition and cortical morphology in a cohort of ATTRv patients.

Community successional patterns and inter-kingdom interactions during granular biofilm development.

Aerobic granular sludge is a compact and efficient biofilm process used for wastewater treatment which has received much attention and is currently being implemented worldwide. The microbial associations and their ecological implications occurring during granule development, especially those involving inter-kingdom interactions, are poorly understood. In this work, we monitored the prokaryote and eukaryote community composition and structure during the granulation of activated sludge for 343 days in a sequencing batch reactor (SBR) and investigated the influence of abiotic and biotic factors on the granule development.

Improving the Performance of the Layered Nickel Manganese Oxide Cathode of Sodium-Ion Batteries by Direct Coating with Sodium Niobium Oxide.

This research highlights the efficacy of NaNbO as a coating for P2-NaNiMnO cathodes in sodium-ion batteries. The coating enhances the kinetic behavior and cyclability of the electrochemical cells, as shown by electrochemical measurements. XRD analysis indicates that Nb does not incorporate into the cathode structure, implying a physical interaction between the coating and the cathode material.

Impact of hemispherotomy on quality of life and burden of caregivers in children and adolescents: a retrospective observational study.

Purpose: To evaluate QOL and caregiver burden of children and teenagers submitted to hemispherotomy for pharmacoresistant epilepsy, by comparing pre and post-surgical intervention data.

Materials And Methods: Retrospective analysis of pediatric patients submitted to surgical hemispherotomy before intervention (preOP) and their follow-up at 6 months (6 M PO) and 2 years (2Y PO) after surgery. QOL was evaluated through the Quality of Life in Childhood Epilepsy (QVCE-50) questionnaire and caregiver burden, through the Zarit Burden Interview (ZBI) tool.

Hydrodynamic Evaluation of a Filtering Hydrocyclone for Solid Particle/Water Separation.

A conventional hydrocyclones is a versatile equipment with a high processing capacity and low maintenance cost. Currently, several studies aim to alter the typical structure of the conventional hydrocyclone in order to modify its performance and purpose. For this, filtering hydrocyclones have emerged, where a porous membrane replaces the conic or cylindrical wall.

Synthesis and Properties of the Helium Clathrate and Defect Perovskite [He □ ][CaNb]F.

The defect double perovskite [He □ ][CaNb]F, with helium on its A-site, can be prepared by the insertion of helium into ReO-type CaNbF at high pressure. Upon cooling from 300 to 100 K under 0.4 GPa helium, ∼60% of the A-sites become occupied.

Fraction of venom containing crotapotin protects PC12 cells against MPP toxicity by activating the NGF-signaling pathway.

Background: Parkinson's disease (PD) is the second most prevalent neurodegenerative disease. There is no effective treatment for neurodegenerative diseases. Snake venoms are a cocktail of proteins and peptides with great therapeutic potential and might be useful in the treatment of neurodegenerative diseases.

Vanishing white matter disease: imaging, clinical and molecular correlation in Brazilian families.

Purpose: To characterize Vanishing White Matter Disease (VWM) cases from a Brazilian University Tertiary hospital, focusing on brain magnetic resonance image (MRI) aspects, clinical and molecular data.

Methods: Medical records and brain MRI of 13 genetically confirmed VWM patients were reviewed. Epidemiological data such as age at symptom onset, gender and main symptoms were analyzed, along with genetic mutations and MRI characteristics, such as the distribution of white matter lesions and atrophy.

In vitro antiproliferative effects of Vatairea macrocarpa (Benth.) Ducke lectin on human tumor cell lines and in vivo evaluation of its toxicity in Drosophila melanogaster.

Tumor cells may develop alterations in glycosylation patterns during the initial phase of carcinogenesis. These alterations may be important therapeutic targets for lectins with antitumor action. This work aimed to evaluate the in vitro cytotoxicity of VML on tumor and non-tumor cells (concentration of 25 μg/mL and then microdiluted) and evaluate its in vivo toxicity at different concentrations (1.

Rose Bengal Labeled Bovine Serum Albumin for Protein Transport Imaging in Subcutaneous Tissues Using Computed Tomography and Fluorescence Microscopy.

Subcutaneous (SC) injection of protein-based therapeutics is a convenient and clinically established drug delivery method. However, progress is needed to increase the bioavailability. Transport of low molecular weight () biotherapeutics such as insulin and small molecule contrast agents such as lipiodol has been studied using X-ray computed tomography (CT).

Assessment of U-Net in the segmentation of short tracts: Transferring to clinical MRI routine.

Accurately studying structural connectivity requires precise tract segmentation strategies. The U-Net network has been widely recognized for its exceptional capacity in image segmentation tasks and provides remarkable results in large tract segmentation when high-quality diffusion-weighted imaging (DWI) data are used. However, short tracts, which are associated with various neurological diseases, pose specific challenges, particularly when high-quality DWI data acquisition within clinical settings is concerned.

Brain morphometry and estimation of aging brain in subjects with congenital untreated isolated GH deficiency.

Purpose: Individuals with isolated GH deficiency (IGHD) due to a mutation in the GHRH receptor gene have a normal life expectancy and above 50 years of age, similar total cognitive performance, with better attention and executive function than controls. Our objectives were to evaluate their brain morphometry and brain aging using MRI.

Methods: Thirteen IGHD and 14 controls matched by age, sex, and education, were enrolled.