Natural compounds have diverse structures and are present in different forms of life. Metabolites such as tannins, anthocyanins, and alkaloids, among others, serve as a defense mechanism in live organisms and are undoubtedly compounds of interest for the food, cosmetic, and pharmaceutical industries. Plants, bacteria, and insects represent sources of biomolecules with diverse activities, which are in many cases poorly studied. To use these molecules for different applications, it is essential to know their structure, concentrations, and biological activity potential. In vitro techniques that evaluate the biological activity of the molecules of interest have been developed since the 1950s. Currently, different methodologies have emerged to overcome some of the limitations of these traditional techniques, mainly via reductions in time and costs. These emerging technologies continue to appear due to the urgent need to expand the analysis capacity of a growing number of reported biomolecules. This review presents an updated summary of the conventional and relevant methods to evaluate the natural compounds’ biological activity in vitro.

Multiple non-related neoplasia does not have an established approach or benefits for performing whole-exome sequencing (WES) analysis. We report on a 46-year-old woman who developed astrocytoma, thyroid, and breast cancer within 10 years. The WES analysis found a novel missense variant in the ACSL6 gene, and the protein modeling showed altered secondary and tertiary structures, which modify the binding to cofactors and substrates. ACSL6 is involved in lipid metabolism, expressed in the brain, thyroid, and breast tissues, and is associated with diverse types of cancer. Our study demonstrates the benefit of WES analysis compared with commercial panels in patients with non-related neoplasia.

Background Modern human brains and skull shapes differ from other hominids. Brain growth disorders as micro- (ASPM, MCPH1) and macrocephaly (NFIX, GLI3) have been highlighted as relevant for the evolution in humans due to the impact in early brain development. Genes associated with macrocephaly have been reported to cause this change, for example NSD1 which causes Sotos syndrome. Results In this study we performed a systematic literature review, located the reported variants associated to Sotos syndrome along the gene domains, compared the sequences with close primates, calculated their similarity, Ka/Ks ratios, nucleotide diversity and selection, and analyzed the sequence and structural conservation with distant primates. We aimed to understand if NSD1 in humans differs from other primates since the evolution of NSD1 has not been analyzed in primates, nor if the localization of the mutations is limited to humans. Our study found that most variations causing Sotos syndrome are in exon 19, 22 and 10. In the primate comparison we did not detect Ka/Ks ratios > 1, but a high nucleotide diversity with non-synonymous variations in exons 10, 5, 9, 11 and 23, and sites under episodic selection in exon 5 and 23, and human, macaque/colobus/tarsier/galago and tarsier/lemur/colobus. Most of the domains are conserved in distant primates with a particular progressive development from a simple PWWP1 in O. garnetti to a complex structure in Human. Conclusion NSD1 is a chromatin modifier that suggests that the selection could influence brain development during modern human evolution and is not present in other primates; however, nowadays the nucleotide diversity is associated with Sotos syndrome.

We present the case of a 20-year-old male with non-classical Diamond-Blackfan anemia (DBA) due to a novel missense variant (G133S) in the RPL26 gene. He was born in 2002 by vaginal delivery with low weight and length. He presented mental disability, walked at age 3, and spoke at 2.5 years old. At age 9, he was diagnosed with Sprengel deformity. In 2018, blood tests showed macrocytic anemia and hypoparathyroidism. In 2019, he was diagnosed with thrombocytopenia and received red blood cell transfusions. Laboratory tests showed reticulocytopenia (<0.5%, ARC = 0.0114 cells/µL). In 2021, he received treatment for iron deficiency due to malnutrition. In 2022, blood tests were normal for hemoglobin (17.2 g/dL) and hematocrit (50%). However, follicle-stimulating hormone (20.4%) and luteinizing hormone (8.66 mIU/mL) levels were high. Physical examination revealed a narrow forehead, wide nasal root, hypoplastic nasal wings, slight left facial asymmetry, downwards eyelid corners, dolichocephaly, asymmetric thorax, and pectus carinatum (Figure 1). In 2022, additional imaging studies confirmed a type I triphalangeal thumb (Figure S2F). Brain magnetic resonance imaging revealed mild cortical thinning, moderate hypoplasia of the corpus callosum, cortical gliosis, and F I G U R E 1 Patient's physical characteristics. The patient has a narrow forehead, upwards eyelid fissures, wide nasal root, and bridge, hypoplastic nasal wings, hypoplasia, and slight left facial asymmetry, downwards eyelid corners (ptosis), short neck, dolichocephaly, and mild micrognathia.

Natural compounds have diverse structures and are present in different forms of life. Metabolites such as tannins, anthocyanins, and alkaloids, among others, serve as a defense mechanism in live organisms and are undoubtedly compounds of interest for the food, cosmetic and pharmaceutical industries. Plants, bacteria, and insects represent a source of biomolecules with diverse activities, poorly studied in many cases. To use these molecules for different applications, it is essential to know their structure, concentrations, and biological activity potential. In vitro techniques that evaluate the biological activity of the molecules of interest have been developed since the 1950s. Currently, different methodologies have emerged to overcome some of the limitations of these traditional techniques, mainly the reduction of time and costs. However, emerging technologies continue to appear due to the urgent need to expand the analysis capacity of a growing number of reported biomolecules and the lack of therapeutic options to treat various diseases. This review presents an updated summary of the conventional and current methods to evaluate natural compounds' biological activity, including a diagram that summarizes the minimum techniques essential for correctly assessing molecules with biological potential.