Background Chronic obstructive pulmonary disease (COPD) is a progressive respiratory condition characterised by airflow limitation and reduced exercise capacity. The Six-Minute Walk Test (6MWT) and Two-Minute Walk Test (2MWT) are commonly used to assess functional exercise capacity in COPD patients. This study aims to evaluate the correlation between the distance covered in the 2MWT and 6MWT with spirometric indices (such as Forced Expiratory Volume in 1 second (FEV₁), Forced Vital Capacity (FVC), and FEV₁/FVC) in COPD patients.
View Article and Find Full Text PDFNeuron navigators (NAVs) are cytoskeleton-associated proteins well known for their role in axonal guidance, neuronal migration, and neurite growth necessary for neurodevelopment. Neuron navigator 3 (NAV3) is one of the three NAV proteins highly expressed in the embryonic and adult brain. However, the role of the NAV3 gene in human disease is not well-studied.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFThe cytosolic capping protein, Arp2/3 and myosin-I linker protein 2 or CARMIL2 plays an important role in T/B/NK cell function. Biallelic disease causing variants in CARMIL2 are known to cause immunodeficiency 58. We report a 13-year-old girl with recurrent infections, dermatitis and nephrotic syndrome since childhood.
View Article and Find Full Text PDFLeucine - rich repeat containing 45 protein (LRRC45) protein localizes at the proximal end of centrioles and forms a component of the proteinaceous linker between them, with an important role in centrosome cohesion. In addition, a pool of it localizes at the distal appendages of the modified parent centriole that forms the primary cilium and it has essential functions in the establishment of the transition zone and axonemal extension during early ciliogenesis. Here, we describe three individuals from two unrelated families with severe central nervous system anomalies.
View Article and Find Full Text PDFBackground: Peritoneal metastasis with micrometastatic cell clusters is a common feature of advanced ovarian cancer. Targeted alpha therapy (TAT) is an attractive approach for treating micrometastatic diseases as alpha particles release enormous amounts of energy within a short distance. A pretargeting approach - leveraging the inverse-electron-demand Diels-Alder reaction between tetrazines (Tz) and trans-cyclooctene (TCO) - can minimize off-target toxicity related to TAT, often associated with full-length antibodies.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFBioelectrochemistry
February 2025
Electric stimulation regulates many cellular processes like cell proliferation, differentiation, apoptosis and cellular migration. Despite its crucial role in regulating stem cells and regeneration, it remains underexplored in both in-vivo and in-vitro settings. In this study, Eudrilus eugeniae are subjected to electric stimulation (1.
View Article and Find Full Text PDFCirculating tumor DNA (ctDNA), a fragment of tumor DNA found in the bloodstream, has emerged as a revolutionary tool in cancer management. This review delves into the biology of ctDNA, examining release mechanisms, including necrosis, apoptosis, and active secretion, all of which offer information about the state and nature of the tumor. Comprehensive DNA profiling has been enabled by methods such as whole genome sequencing and methylation analysis.
View Article and Find Full Text PDFThe sodium-dependent multivitamin transporter encoded by SLC5A6 is responsible for uptake of biotin, pantothenic acid, and α-lipoic acid. Thirteen individuals from eight families are reported with pathogenic biallelic SLC5A6 variants. Phenotype ranges from multisystem metabolic disorder to childhood-onset peripheral motor neuropathy.
View Article and Find Full Text PDFVan Neck-Odelberg disease, also known as ischiopubic osteochondritis, is a rare cause of buttock or groin pain in the pediatric age group. The challenge in its diagnosis is due to its radiologic similarity. Ischiopubic synchondrosis occurs in childhood and is seen before the fusion of the pubis and ischium.
View Article and Find Full Text PDFAberrantly expressed glycans on mucins such as mucin-16 (MUC16) are implicated in the biology that promotes ovarian cancer (OC) malignancy. Here, we investigated the theranostic potential of a humanized antibody, huAR9.6, targeting fully glycosylated and hypoglycosylated MUC16 isoforms.
View Article and Find Full Text PDFIn this work, a simple and facile approach was employed for the preparation of the ternary hybrids comprising of titanium dioxide, zinc oxide and graphitic nitride (designated as TZG-TH) with varying compositions of the components. In the context of complex and multi-stages involved for preparation of many of the THs in the literature, the present work uses the much simpler mythology for the preparation of TH. Nanofluids (NF) were formulated in ethylene glycol: water base fluid using TZG TH as the solid particles.
View Article and Find Full Text PDFMucin-16 (MUC16) is a target for antibody-mediated immunotherapy in pancreatic ductal adenocarcinoma (PDAC) among other malignancies. The MUC16-specific monoclonal antibody AR9.6 has shown promise for PDAC immunotherapy and imaging.
View Article and Find Full Text PDFDisease-causing variants in HEPACAM are associated with megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A, MIM# 613,925, autosomal recessive), and megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development (MLC2B, MIM# 613,926, autosomal dominant). These disorders are characterised by macrocephaly, seizures, motor delay, cognitive impairment, ataxia, and spasticity. Brain magnetic resonance imaging (MRI) in these individuals shows swollen cerebral hemispheric white matter and subcortical cysts, mainly in the frontal and temporal regions.
View Article and Find Full Text PDFEnviron Sci Pollut Res Int
January 2024
Semiconductor photocatalysis is the most efficient advanced oxidation processes for wastewater treatment. A new carbon-based photocatalyst bismuth oxide/multi-walled carbon nanotube (BiO/MWCNT) nanocomposite has a considerable impact on improving photocatalytic performance. BiO/MWCNTs (BMC) nanocomposite was prepared through the hydrothermal processing with 2.
View Article and Find Full Text PDFBackground: Antimicrobial exposure leads to an increased risk of colonization and spread of vancomycin-resistant enterococci. Studies have also implicated exposure to nonantimicrobial medications as a potential risk factor for an increased risk of colonization with these pathogens.
Methods: A matched case-control study was performed to determine specific nonantimicrobial medications associated with vancomycin-resistant enterococci rectal colonization.
(Finger millet, ) is one of the cereals which can cultivate in higher altitudes. This study analysed the effects of various drying techniques such as spray, tray and freeze drying on the retention of micronutrients and structural changes in . Minerals, such as iron and calcium were determined using atomic absorption spectroscopy (AAS) and water-soluble vitamins, such as vitamin B1, B2 and B3 were determined by high-performance liquid chromatography (HPLC).
View Article and Find Full Text PDFIn the present work, a new kind of nanocomposite (NC)-based solid component was prepared for formulating nanofluids (NFs). The NC comprised metal oxide (titanium dioxide, TiO) dispersed in a conducting polymer with polyaniline (PANI) and chemically linked silyl-alkyl units in it (PSA) that were designated as T-PSA NC. The NFs with ethylene glycol (EG) as a base fluid were prepared with T-PSA NCs with various compositions of TiO and PSA as well for various concentrations of T-PSA NCs.
View Article and Find Full Text PDFWeaning food is a soft, easily digestible type of food other than breast milk for infants aged 6 to 24 months. The present study was conducted to develop cereal-fruit-based complementary foods for infants and evaluate the nutritional quality of such types of foods. Few researchers have focused on formulating weaning foods from locally available, nutritious, and rich ingredients without nutrient loss to reduce malnutrition and infant morbidity rates.
View Article and Find Full Text PDFBackground: The coronavirus 2019 (COVID-19) pandemic resulted in rapid implementation of telemedicine. Little is known about the impact of telemedicine on both no-show rates and healthcare disparities on the general primary care population during the pandemic.
Objective: To compare no-show rates between telemedicine and office visits in the primary care setting, while controlling for the burden of COVID-19 cases, with focus on underserved populations.
The COVID-19 pandemic caused lifestyle changes and has led to the new electricity demand patterns in the presence of non-pharmaceutical interventions such as work-from-home policy and lockdown. Quantifying the effect on electricity demand is critical for future electricity market planning yet challenging in the context of limited smart metered buildings, which leads to limited understanding of the temporal and spatial variations in building energy use. This study uses a large scale private smart meter electricity demand data from the City of Austin, combined with publicly available environmental data, and develops an ensemble regression model for long term daily electricity demand prediction.
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