DNA Database Research Articles

The association between precuneus cortex thickness and mild behavioral impairment in patients with mild stroke.

The objective of this research was to examine the association between precuneus cortex thickness and mild behavioral impairment (MBI) in patients with mild stroke. Seventy-two patients were evaluated by high-resolution 3T magnetic resonance and the mild behavioral impairment checklist (MBI-C). To determine the association between precuneus cortex thickness and MBI, we adjusted for demographics, vascular risk factors, and laboratory examination indicators in logistic regression analysis. In addition, we used mendelian randomization to further study the association through genetic databases. Of the 72 mild stroke patients in this study, 26 had MBI. We found a strong negative connection between precuneus cortex thickness and MBI after adjusting for any confounding variables. In patients with an initial mild stroke, the thinner the precuneus cortex, the higher the risk of MBI (OR: 0.02; 95% CI: 0.00-0.39; P < 0.05). Our study has uncovered a significant negative association between the thickness of the precuneus cortex and MBI. This finding provides a novel viewpoint for the radiological diagnosis of MBI, thereby augmenting the contribution of imaging to the diagnostic process of MBI and advancing the prediction of dementia. Specifically, in patients who have suffered mild stroke, a reduction in the cortical thickness of the precuneus has been pinpointed as crucial radiographic evidence of preclinical cognitive impairment. This insight could potentially facilitate earlier detection and intervention strategies for cognitive decline.

Precision Medicine in Anesthesia: Pharmacogenomics and Personalized Care

Precision medicine in anesthesia represents a transformative approach aimed at optimizing anesthetic care by tailoring interventions to individual patient characteristics, particularly their genetic profile. Pharmacogenomics, a cornerstone of precision medicine, explores the genetic factors influencing drug metabolism, efficacy, and adverse reactions. This article delves into the integration of pharmacogenomics in anesthesia, discussing its impact on drug selection, dosage adjustments, and patient outcomes. It also highlights the potential for reducing perioperative complications, enhancing patient safety, and improving recovery through personalized anesthetic care. Challenges such as the need for robust genetic databases, ethical considerations, and the cost-effectiveness of implementing precision medicine in clinical practice are also discussed. The future of anesthesia lies in harnessing pharmacogenomics to provide individualized care, ultimately advancing patient-centric anesthetic management.

Public Acceptance on the Benefits and Risks of DNA Profile Storage in Forensic DNA Databases: A Lesson from Malaysia

In December 2015, the Forensic DNA Databank of Malaysia (FDDM) was formally established to help in crime prevention and justice. Government activities are boosting public awareness, yet some misconceptions and concerns remain about the collection, storage, and use of Forensic DNA databases. The study's aim is to raise awareness about the benefits and risks of profile storage in forensic DNA data banks. A small number of public informants were selected using the qualitative technique. These included ten public informants and the study employs thematic analysis, and the results are somewhat unexpected. The findings of Focus Group Discussions (FGDs) show that informants' understanding of the benefits and risk of storing DNA profiles in forensic DNA data banks remains low. If the public is unclear and has limited understanding of the benefits and risks involved, it can have an impact on public health in general, and informants continue to blame practitioners in the relevant authorities for a lack of information. It raises the question of how the Malaysian forensic DNA database can be considered sustainable by the public. In recommendations, the government can collaborate with all key government agencies, including the judicial system, the attorney general's office, and the department of chemistry, to raise public acceptance of the benefits and risks of preserving DNA profiles in forensics DNA databanks. Future research is expected to involve additional stakeholders and use a variety of methodological approaches to cover a broader scope.

Identification of a novel SNP mutation causing drop-out alleles in a paternity test using combined nest and touch-down PCR with Sanger sequencing

Background Short tandem repeat (STR) markers are widely used in forensic DNA analysis due to their ability to provide automated and standardised typing. However, incorrect STR typing can have a significant impact on forensic outcomes. Aim In this study, we detected drop-out alleles at the SE33 locus in a putative father-son pair using the Microreader™ 28 A ID System. This result could lead to a false conclusion of non-paternity. Subjects and methods To investigate the cause of the drop-out alleles, we developed a nest and touch-down PCR program for Sanger sequencing of the SE33 locus. Subsequently, we investigated the mutation frequency in 300 unrelated individuals and reviewed the results of 429 paternity tests. Results The results showed that the frequency of the G > T mutation at this locus was less than 0.01, which is a novel and rare mutation. Our analysis revealed a novel G > T mutation in the primer-binding region of both samples, which was a rare single-nucleotide mutation site in the Chinese population. This variation was found to be responsible for the drop-out alleles observed in the samples. Conclusion Our findings have important implications for optimising primer design and constructing DNA databases for forensic analysis.

The Future of Cystic Fibrosis Care: Exploring AI's Impact on Detection and Therapy

: Cystic Fibrosis (CF) is a fatal hereditary condition marked by thicker mucus production, which can cause problems with the digestive and respiratory systems. The quality of life and survival rates of CF patients can be improved by early identification and individualized therapy measures. With an emphasis on its applications in diagnosis and therapy, this paper investigates how Artificial Intelligence (AI) is transforming the management of Cystic Fibrosis (CF). AI-powered algorithms are revolutionizing CF diagnosis by utilizing huge genetic, clinical, and imaging data databases. In order to identify CF mutations quickly and precisely, machine learning methods evaluate genomic profiles. Furthermore, AI-driven imaging analysis helps to identify lung and gastrointestinal issues linked to cystic fibrosis early and allows for prompt treatment. Additionally, AI aids in individualized CF therapy by anticipating how patients will react to already available medications and enabling customized treatment regimens. Drug repurposing algorithms find prospective candidates from already-approved drugs, advancing treatment choices. Additionally, AI supports the optimization of pharmacological combinations, enhancing therapeutic results while minimizing side effects. AI also helps with patient stratification by connecting people with CF mutations to therapies that are best for their genetic profiles. Improved treatment effectiveness is promised by this tailored strategy. The transformational potential of artificial intelligence (AI) in the field of cystic fibrosis is highlighted in this review, from early identification to individualized medication, bringing hope for better patient outcomes, and eventually prolonging the lives of people with this difficult ailment.

Reference Sequence Browser: An R application with a user-friendly GUI to rapidly query sequence databases.

Land managers, researchers, and regulators increasingly utilize environmental DNA (eDNA) techniques to monitor species richness, presence, and absence. In order to properly develop a biological assay for eDNA metabarcoding or quantitative PCR, scientists must be able to find not only reference sequences (previously identified sequences in a genomics database) that match their target taxa but also reference sequences that match non-target taxa. Determining which taxa have publicly available sequences in a time-efficient and accurate manner currently requires computational skills to search, manipulate, and parse multiple unconnected DNA sequence databases. Our team iteratively designed a Graphic User Interface (GUI) Shiny application called the Reference Sequence Browser (RSB) that provides users efficient and intuitive access to multiple genetic databases regardless of computer programming expertise. The application returns the number of publicly accessible barcode markers per organism in the NCBI Nucleotide, BOLD, or CALeDNA CRUX Metabarcoding Reference Databases. Depending on the database, we offer various search filters such as min and max sequence length or country of origin. Users can then download the FASTA/GenBank files from the RSB web tool, view statistics about the data, and explore results to determine details about the availability or absence of reference sequences.

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.

Cystic fibrosis (CF) is a genetically inherited disorder characterized by a wide range of clinical manifestations and genetic variations. This study focuses on the genetic and molecular epidemiology of CF in the Russian population, utilizing data from the national CF registry. The birth prevalence of CF in Russia has been analyzed over a span of years, revealing variations in frequency. The study delves into the genetic landscape of CFTR gene variants in Russian patients, showcasing a diverse spectrum with a predominance of severe variants, some of which are rare and distinct from global populations. A total of 233 variants have been documented, exhibiting frequencies ranging from 0.01% to 51.5%, with 47 of these variants remaining uncharted within international genetic databases. As of 2021, CFTR modulator therapy has been introduced for patients under 19 years, heightening the importance of genetic diagnosis. In 2023, more than 1,850 patients under 19 received CFTR modulator therapy. Notably, the impact of complex alleles on disease progression and response to targeted therapies is gaining recognition. Comparisons with European registries highlight distinctive features of the Russian population, such as differences in age distribution among patients. Additionally, the study emphasizes the need to ascertain clinical significance and pathogenicity of newly identified genetic variants, along with exploring their suitability for targeted therapies. The integration of genetic insights into the management of CF offers potential for enhanced personalized therapeutic interventions. In conclusion, this thorough analysis provides a comprehensive understanding of the genetic nuances within the Russian CF population. By illuminating the intricate relationship between genetic variations and disease manifestation, the study underscores the essential role of genetics in shaping therapeutic strategies and improving patient outcomes. Further research and ongoing genetic exploration are crucial for optimizing the care of individuals with CF in the era of evolving therapeutic options.

Expanding the BonnMu sequence-indexed repository of transposon induced maize (Zea mays L.) mutations in dent and flint germplasm.

The BonnMu resource is a transposon tagged mutant collection designed for functional genomics studies in maize. To expand this resource, we crossed an active Mutator (Mu) stock with dent (B73, Co125) and flint (DK105, EP1, and F7) germplasm, resulting in the generation of 8064 mutagenized BonnMu F2-families. Sequencing of these Mu-tagged families revealed 425 924 presumptive heritable Mu insertions affecting 36 612 (83%) of the 44 303 high-confidence gene models of maize (B73v5). On average, we observed 12 Mu insertions per gene (425 924 total insertions/36 612 affected genes) and 53 insertions per BonnMu F2-family (425 924 total insertions/8064 families). Mu insertions and photos of seedling phenotypes from segregating BonnMu F2-families can be accessed through the Maize Genetics and Genomics Database (MaizeGDB). Downstream examination via the automated Mutant-seq Workflow Utility (MuWU) identified 94% of the presumptive germinal insertion sites in genic regions and only a small fraction of 6% inserting in non-coding intergenic sequences of the genome. Consistently, Mu insertions aligned with gene-dense chromosomal arms. In total, 42% of all BonnMu insertions were located in the 5' untranslated region of genes, corresponding to accessible chromatin. Furthermore, for 38% of the insertions (163 843 of 425 924 total insertions) Mu1, Mu8 and MuDR were confirmed to be the causal Mu elements. Our publicly accessible European BonnMu resource has archived insertions covering two major germplasm groups, thus facilitating both forward and reverse genetics studies.

Genetic aspects of hereditary pancreatitis

Hereditary pancreatitis is a genetically determined disease that occurs in 1-10% of adult patients with chronic pancreatitis and in more than 50% of pediatric patients. Patients with hereditary pancreatitis have an increased risk of developing complications, pancreatic cancer, therefore early detection is important for screening for the occurrence of malignant neoplasm. The purpose of the review was to analyze the literature data on modern approaches to the diagnosis of hereditary pancreatitis and to familiarize with diagnostic methods. Methods A literature search was conducted in the databases PubMed, Web of Science, UpToDate, genetic databases using keywords. The data of 80 articles and the expert opinion of specialists providing care to patients with pancreatitis were used. Conclusion Carrying out molecular genetic diagnostics plays an important role in the study of pathogenesis, assessment of variants of the course of the disease. The article presents the currently known aspects that are important for working with patients with hereditary pancreatitis.

Optimal 16S rRNA gene amplicon sequencing analysis for oral microbiota to avoid the potential bias introduced by trimming length, primer, and database.

16S rRNA gene amplicon sequencing analysis is used to investigate bacterial communities; however, the estimated bacterial composition can differ from the original due to experimental and analytical biases. Therefore, this study determines the optimal conditions to minimize the potential biases in 16S rRNA gene amplicon sequencing analysis using different DNA samples, trimming lengths, primers, and databases. The results of the mock1 community with 250 and 300 bp paired-end (PE), comprising 15 bacteria from various environments, showed the highest similarity between the theoretical value and the data using the Greengenes2 and the V3 region at the genus level and V5-V6 at the species level. In the 300 bp PE sequencing analysis of the mock2 community, comprising six major oral bacteria, the data using the V3-V4, V4, and V5-V6 regions with the SILVA, Greengenes2, and the Human Oral Microbiome Database (HOMD) showed the highest similarity to the theoretical values at the genus level. At the species level, the data using the V3-V4 and V4 regions with Greengenes2 and the data using the V1-V2 with HOMD exhibited the highest alignment with the theoretical values. In the species analysis of the dental calculus samples with 300 bp PE, the Shannon index value was higher with the V1-V2 region and HOMD than with others. Our results suggest that the optimal conditions for oral microbiome analysis are the combinations of 300 bp PE and the V3-V4 or V4 region with the Greengenes2 and the V1-V2 with HOMD.IMPORTANCEThe 16S rRNA gene amplicon sequencing analysis is frequently used in oral microbiome research. However, this method can have biases that distort the experimental data, which depend on the methodological steps, including sequencing length, trimming length, selected amplification regions, and referenced databases. In this study, a combination of 300 bp PE and the primer targeting the V3-V4 or V4 regions with the Greengenes2 and the V1-V2 region with the HOMD was the most bias-minimizing condition for oral microbiota analysis. In addition, this is the first report of such analyses in modern Japanese dental calculus. The methods used in this study will aid in setting appropriate conditions for sequence analysis of microbiota obtained not only from the oral cavity but also from any environment.

Androgen production, uptake, and conversion (APUC) genes define prostate cancer patients with distinct clinical outcomes.

BACKGROUNDProstate cancer (PC) is driven by aberrant signaling of the androgen receptor (AR) or its ligands, and androgen deprivation therapies (ADTs) are a cornerstone of treatment. ADT responsiveness may be associated with germline changes in genes that regulate androgen production, uptake, and conversion (APUC).METHODSWe analyzed whole-exome sequencing (WES) and whole-transcriptome sequencing (WTS) data from prostate tissues (SU2C/PCF, TCGA, GETx). We also interrogated the Caris Precision Oncology Alliance (POA) DNA (592-gene/whole exome) and RNA (whole transcriptome) next-generation sequencing databases. Algorithm for Linking Activity Networks (ALAN) was used to quantify all pairwise gene-to-gene associations. Real-world overall survival was determined from insurance claims data using Kaplan-Meier estimates.RESULTSSix APUC genes (HSD3B1, HSD3B2, CYP3A43, CYP11A1, CYP11B1, CYP17A1) exhibited coalescent gene behavior in a cohort of metastatic tumors (n = 208). In the Caris POA dataset, the 6 APUC genes (APUC-6) exhibited robust clustering in primary prostate (n = 4,490) and metastatic (n = 2,593) biopsies. Surprisingly, tumors with elevated APUC-6 expression had statically lower expression of AR, AR-V7, and AR signaling scores, suggesting ligand-driven disease biology. APUC-6 genes instead associated with the expression of alternative steroid hormone receptors, ESR1/2 and PGR. We used RNA expression of AR or APUC-6 genes to define 2 subgroups of tumors with differential association with hallmark pathways and cell surface targets.CONCLUSIONSThe APUC-6-high/AR-low tumors represented a subgroup of patients with good clinical outcomes, in contrast with the AR-high or neuroendocrine PCs. Altogether, measuring the aggregate expression of APUC-6 genes in current genomic tests identifies PCs that are ligand (rather than AR) driven and require distinct therapeutic strategies.FUNDINGNCI/NIH 1R37CA288972-01, NCI Cancer Center Support P30 CA077598, DOD W81XWH-22-2-0025, R01 CA249279.

Reasons for Potential Unreliability of DNA Evidence: A Critical Examination

DNA evidence is widely regarded as the "gold standard" in forensic science because of its capacity to accurately identify individuals and exonerate the innocent. However, several factors cast doubt on its reliability in criminal investigations. This study offers a comprehensive exploration of critical issues influencing the trustworthiness of DNA evidence, including errors in evidence collection, overlooking additional DNA samples at the crime scene, the absence of credible witnesses during searches, and the lack of video documentation throughout the processes of seizure, transportation, and lab analysis. Other concerns include human errors, inconsistent DNA analysis protocols among forensic laboratories, and potential contamination during sample collection. Furthermore, the research delves into laboratory errors, subjective interpretations, and existing biases. There is an increasing worry regarding the excessive reliance on DNA evidence without sufficient investigative corroboration, along with the potential misinterpretation of statistical probabilities by jurors. The article also examines ethical issues surrounding the expansion of DNA databases, privacy violations, and familial DNA searches. Citing pivotal academic studies and landmark legal cases like those of O.J. Simpson and Amanda Knox, this analysis highlights the pressing need for rigorous standards to govern the ethical use of DNA evidence in the criminal justice system.

A morphological and high throughput sequencing workflow to identify Australian ants (Hymenoptera, Formicidae): a new tool for biosecurity and biodiversity

Ants are often the most ubiquitous and ecologically influential components of terrestrial systems, exhibiting an exceptionally high level of endemic diversity. Simultaneously, exotic ants can be amongst the most environmentally and economically devastating biological invaders. Distinguishing between exotic and related natives is essential for early detection and to reduce the chance of establishment, but at the species-level there remains a great deal of uncertainty among several of the most diverse, widespread and ecologically dominant genera. This taxonomic impediment negatively impacts the use of molecular techniques relying on reference databases, due to the poor state of ant DNA sequences in publicly available repositories, with many species not represented at all and others incorrectly identified. As a result, biosecurity screening for targeted exotic ants and assigning ant species-level identifications for biodiversity remain two separate areas of focus in Australia. Here we propose a workflow for the identification of ants that enables simultaneous processing of large numbers of “bulk” ant samples each containing many individuals, increasing resolution for taxonomic assignment, and generating a curated database linked to voucher specimens. We use a non-destructive DNA extraction method and compare two high throughput sequencing (HTS) metabarcoding platforms – MiSeq (Illumina) and MinION (Oxford Nanopore Technologies) – processing up to 180 bulk mixed ant samples per run. This approach allowed for the acquisition of curated DNA sequences from voucher specimens morphologically examined by expert taxonomists. This work highlights the advantages and current limitations of DNA-based identifications, the needs for standardisation, as well as the importance of a taxonomy-based curation of DNA database for both biodiversity and biosecurity.

Examination of Opinions and Attitudes about Forensic DNA Database: Medical Students, Forensic Medicine Doctors and Clinical Geneticists

Examination of Opinions and Attitudes about Forensic DNA Database: Medical Students, Forensic Medicine Doctors and Clinical Geneticists

Taxonomy Identifiers (TaxId) for Biodiversity Genomics: a guide to getting TaxId for submission of data to public databases.

Biodiversity genomics critically depends on correct taxonomic identification of the sample from which data are derived. Tracking of that taxonomic information through systems that archive data and report on genome sequencing efforts. For submission of data to the International Nucleotide Sequence Database Collaboration (INSDC) databases (DNA DataBank of Japan [DDBJ], European Nucleotide Archive [ENA] and National Center for Biotechnology Information [NCBI]), samples and data derived from them must be assigned a species-level NCBI Taxonomy taxonomic identifier (TaxId, sometimes referred to as taxId or txid). We thus need to be able to identify the TaxId for a target species efficiently. Because the NCBI Taxonomy does not include all known species and cannot preemptively represent unknown taxa, we also need an efficient process for generating new TaxIds for species not yet listed. This document provides workflows for different kinds of TaxId acquisition scenarios and was created to guide users in these processes. Although developed for European projects such as Darwin Tree of Life and the European Reference Genome Atlas, the workflows are universally applicable and describe the use of ENA in resolving taxonomic issues. Too Long: Didn't Read (TL;DR): Use the ENA REST API programmatically to retrieve TaxIds for target species and confirm that sequence data can be submitted to those TaxIds.Use the NCBI Web interface to NCBI Taxonomy to identify potential homotypic synonyms.Request a new TaxId from ENA for a species not yet in NCBI Taxonomy, and for species-like entries for which the full Linnaean binomen is not determined (see https://ena-docs.readthedocs.io/en/latest/faq/taxonomy_requests.html#creating-taxon-requests).Discuss directly with the NCBI Taxonomy curators or the curators at ENA and NCBI whenever you think there is an opportunity to improve their database.

DDBJ update in 2024: the DDBJ Group Cloud service for sharing pre-publication data.

The Bioinformation and DNA Data Bank of Japan Center (DDBJ Center, https://www.ddbj.nig.ac.jp) provides public databases that cover a wide range of fields in life sciences. As a founding member of the International Nucleotide Sequence Database Collaboration (INSDC), the DDBJ Center accepts and distributes nucleotide sequence data ranging from raw reads to assembled and annotated sequences with the National Center for Biotechnology Information and the European Bioinformatics Institute. Besides INSDC databases, the DDBJ Center provides databases for functional genomics (Genomic Expression Archive), metabolomics (MetaboBank), human genetic variations (TogoVar-repository) and human genetic and phenotypic data (Japanese Genotype-phenotype Archive). These database systems have been built on the National Institute of Genetics supercomputer, which is also a platform for the DDBJ Group Cloud (DGC) services for sharing and analysis of pre-publication data among research groups. This paper reports recent updates on the databases and the services of the DDBJ Center, highlighting the DGC service.

Isolation and Whole-genome analysis of Desmodesmus sp. SZ-1: Novel acid-tolerant carbon-fixing microalga

Utilizing microalgae to capture flue gas pollutants is an effective strategy for mitigating greenhouse gas emissions. However, existing carbon-fixing microalgae exhibit poor tolerance towards acidic flue gas. In this study, the Desmodesmus sp. SZ-1, which can thrive in acidic environments and efficiently sequester CO2, was isolated. Desmodesmus sp. SZ-1 exhibited strong acid tolerance ability, with an average carbon fixation rate of 497.6 mg/L/d under 10 % CO2 and pH 3.5. Physiological analysis revealed that SZ-1 responded to high CO2 by increasing chlorophyll levels while coping with acidic stress by activating antioxidant enzymes. Genome analysis revealed a large number of carbon fixation and acid adaptation genes, involved in membrane lipid biosynthesis, H+ pumps, molecular chaperones, peroxidase system, amino acid synthesis, and carbonic anhydrase. This study provides a novel algal resource for mitigating acid gas emissions and a comprehensive genetic database for genetically modifying microalgae.

Advancing justice: The impact of Brazil’s convict genetic profile identification project after 5 years

This comprehensive study analyzed the implementation and impacts of the Convict Genetic Profile Identification Project in Brazil. By examining semiannual reports from the Integrated Network of DNA Databases (RIBPG) alongside a literature review covering the period from January 2018 to February 2024, the study evaluated the project’s relevance. The project’s primary aim was to enhance DNA databases, thereby fortifying crime prevention and resolution efforts. Notably, the results revealed a substantial increase in genetic profiles of convicted offenders included into the Brazilian National DNA Database (from 2,008 in 2017 to 54,657 in 2019) − a development that aligns with legislative goals. Despite legal and ethical debates, the project demonstrated a positive impact on criminal investigations, with a notable rise in database matches (from 376 in 2017 to 1,418 in 2019). Scientific literature had highlighted the project’s effectiveness in resolving crimes. The project has matured into a well-established process, characterized by continuous insertions and advancements, emphasizing a comprehensive operational framework. Beyond quantitative milestones, it has made qualitative contributions to justice. This collaborative model serves as an example for impactful public policies under Brazil’s Ministry of Justice and Public Security.

7438 DAX1/NR0B1 Related Adrenal Hypoplasia Congenita Without Hypogonadotropic Hypogonadism

Abstract Disclosure: R.L. Figueiredo: None. J.B. Drummond: None. A. Meireles: None. J.L. Machado: None. G. Vidigal: None. B.S. Rocha: None. Background: X-linked congenital adrenal hypoplasia (AHC) is a rare disease caused by genetic mutations in DXA1/NRB01 gene, which encodes a nuclear hormone receptor expressed in the adrenal cortex, gonads, hypothalamus and anterior pituitary gland, occurring in less than 1:12,500 live births (1,2). AHC is characterized by primary adrenal insufficiency (PAI) associated with hypogonadotropic hypogonadism (HH) and impaired spermatogenesis (oligospermia or azoospermia). Although DAX1/NR0B1 mutations can manifest with different phenotypes, HH is mostly present, which makes this present case a diagnostic challenge. Clinical case: A 23-year-old man presented with typical symptoms of adrenal insufficiency at the age of 7 (abdominal pain, dehydration, nausea, vomiting and cutaneous hyperpigmentation). Initial testing was consistent with primary adrenal failure: elevated ACTH levels (1250pg/mL, RR&amp;lt;46pg/mL) and very low serum cortisol (0.8mcg/dL, RR 3-20mcg/dL). Etiological investigation excluded autoimmune etiology (negative anti-adrenal and anti-21-hydroxylase antibodies) as well as adrenoleukodystrophy (normal very long chain fatty acid levels). Physical exam revealed normal virilization, testicular volume and penile length. The patient reported normal libido and sexual function. Hormonal evaluation showed normal total testosterone (424 and 713ng/dL, RR 165 to 753ng/dL) as well as calculated free testosterone (7.2 and 11.4ng/mL, RR&amp;gt;3.8ng/mL) levels. Abdominal CT showed signs of bilateral adrenal hypoplasia. We then proceeded to genetic testing that revealed a pathological variant c.625C&amp;gt;T:p (Gln 209*) in hemizygosity in exon 1 of the DAX 1/NR0B1 gene. This is a nonsense mutation that introduces a premature stop codon. This variant is not present on the global and Brazilian genetic databases (gnomAD and ABraOM) and has not been previously described in the literature. The patient is currently being treated for adrenal insufficiency with the lowest tolerated dose of prednisone (7.5mg/day) and fludrocortisone 0.1mg/day. Conclusion: Etiological investigation of patients with PAI is essential to understand the evolution of the disease, monitoring extra-adrenal manifestations and the possibility of genetic counseling for the family. An intact hypothalamic-pituitary gonadal axis should not preclude genetic evaluation for a DAX/NR0B1 mutation in patients with PAI and suspected AHC. Further studies will clarify if this specific mutation carries a genotype-phenotype correlation in patients with AHC without HH.

Complete mitochondrial genomes and phylogenetic analysis of native and non-native fishes in a national key wetland of China

Fish are considered objective indicators of environmental health and ecosystem stability. Establishing regional reference databases of mitochondrial genome sequences from local fish communities can significantly enhance fish monitoring using environmental DNA (eDNA) analysis. For non-native species, the eDNA technique provides early detection and rapid monitoring. It is also crucial to include fundamental genetic information for both native and non-native species in genetic databases. This study presents the complete mitochondrial genomes of 17 fish species inhabiting the Baiyangdian Basin, a national key wetland in China. The mitochondrial DNA of these fish was analyzed to investigate their characteristics, and their phylogeny was determined using maximum likelihood (ML) methods. Various analyses were performed, including the examination of nucleotide composition, evaluation of AT-skew and GC-skew, analysis of codon frequency, and determination of relative synonymous codon usage (RSCU) values, and assessment of selection pressure on protein-coding genes (PCGs). The analysis showed that all PCGs in all fish underwent purifying selection. Using Xenocyprididae as a representative, this study investigated the genetic selection tendencies of native and non-native fish species in the Baiyangdian Basin. Significant differences were found in five of the 13 PCGs: COI, COII, COIII, Cytb, and ATP8. Except for ATP8, the findings indicated that the genes of non-native species underwent stronger purifying selection during evolution compared to native species. Additionally, comparing the population ω values of non-native species to those of native species showed that the Cytb and COIII genes exhibited greater differential purification selection than COI and COII. These differences may be the result of the evolution of non-native species to migrate and adapt to the Baiyangdian Basin, thereby affecting the evolution of related genes.