Tag: pubmed

Electrophoresis. 2022 Jun 16. doi: 10.1002/elps.202100387. Online ahead of print.

ABSTRACT

The aim of the study was to better understand the genetic characteristics of the Miao group in China. Herein, genetic characteristics and forensic application values of 57 autosomal insertion-deletion (InDel) loci were investigated in 210 unrelated healthy individuals from the Chinese Yunnan Miao (YM) group. Meanwhile, the genetic differences at these InDels were compared among the YM group and 26 reference populations. The results of forensic statistical analyses showed that all 57 autosomal InDels were in accordance with Hardy-Weinberg equilibrium and linkage equilibrium of pairwise loci in the Chinese YM group. Moreover, the combined probability of discrimination and probability of exclusion in the YM group were 0.9999999999999999999999801 and 0.999928, respectively, which indicated that the multiplex amplification including 57 autosomal InDels was suitable for forensic individual identification and paternity testing in the Chinese YM group. In addition, the results of allelic frequency distribution differential analyses, principal component analysis, phylogenetic tree reconstruction and genetic structure analysis between the Chinese YM group and 26 reference populations revealed that the genetic similarities between the YM group and East Asian populations were more than that between the YM group and other geographical populations. This 57 autosomal InDels system can also effectively distinguish East Asian, European and African populations. This article is protected by copyright. All rights reserved.

PMID:35707881 | DOI:10.1002/elps.202100387

Ital J Dermatol Venerol. 2022 Jun;157(3):262-269. doi: 10.23736/S2784-8671.22.07152-3.

ABSTRACT

BACKGROUND: Melasma is present in 40% of cases in Southeast Asia. The condition is often unresponsive to therapy; treatment has variable success rates, and melasma has high recurrence rates. Lycopene-rich tomato extract is needed to avoid oxidative stress due to ultraviolet rays that cause melasma through the melanogenesis pathway. The aim of this study was to evaluate the effectiveness of an oral tomato extract supplement as an adjuvant for melasma therapy.

METHODS: The study recruited 62 subjects with melasma to a true-experimental clinic with a double-blind, randomized, pre and post-test control design over 12 weeks at the Diponegoro National Hospital, Indonesia. The subjects received an oral tomato extract supplement contains lycopene 30 mg (placebo). All subjects applied topical sunscreen and hydroquinone-4%-cream. Subjects were assessed by superoxide dismutase (SOD) and melasma area and severity index (MASI).

RESULTS: Fifty-nine patients completed the research. The serum SOD levels in the treatment group (tomato extract supplementation) were higher than in the control group given the placebo, with delta SOD (P<0.05). The difference in MASI Scores after therapy in the treatment group had a significant decrease compared to the control group, with statistical review results suggesting that the difference was significant (P<0.05).

CONCLUSIONS: Supplementation of tomato extract as an adjuvant therapy can increase serum SOD levels and improve melasma severity.

PMID:35707866 | DOI:10.23736/S2784-8671.22.07152-3

Diagn Progn Res. 2022 Jun 16;6(1):11. doi: 10.1186/s41512-022-00125-x.

ABSTRACT

BACKGROUND: Evaluating the accuracy of extrapulmonary tuberculosis (TB) tests is challenging due to lack of a gold standard. Latent class analysis (LCA), a statistical modeling approach, can adjust for reference tests’ imperfect accuracies to produce less biased test accuracy estimates than those produced by commonly used methods like composite reference standards (CRSs). Our objective is to illustrate how Bayesian LCA can address the problem of an unavailable gold standard and demonstrate how it compares to using CRSs for extrapulmonary TB tests.

METHODS: We re-analyzed a dataset of presumptive extrapulmonary TB cases in New Delhi, India, for three forms of extrapulmonary TB. Results were available for culture, smear microscopy, Xpert MTB/RIF, and a non-microbiological test, cytopathology/histopathology, or adenosine deaminase (ADA). A diagram was used to define assumed relationships between observed tests and underlying latent variables in the Bayesian LCA with input from an inter-disciplinary team. We compared the results to estimates obtained from a sequence of CRSs defined by increasing numbers of positive reference tests necessary for positive disease status.

RESULTS: Data were available from 298, 388, and 230 individuals with presumptive TB lymphadenitis, meningitis, and pleuritis, respectively. Using Bayesian LCA, estimates were obtained for accuracy of all tests and for extrapulmonary TB prevalence. Xpert sensitivity neared that of culture for TB lymphadenitis and meningitis but was lower for TB pleuritis, and specificities of all microbiological tests approached 100%. Non-microbiological tests’ sensitivities were high, but specificities were only moderate, preventing disease rule-in. CRSs’ only provided estimates of Xpert and these varied widely per CRS definition. Accuracy of the CRSs also varied by definition, and no CRS was 100% accurate.

CONCLUSION: Unlike CRSs, Bayesian LCA takes into account known information about test performance resulting in accuracy estimates that are easier to interpret. LCA should receive greater consideration for evaluating extrapulmonary TB diagnostic tests.

PMID:35706064 | DOI:10.1186/s41512-022-00125-x

Knee Surg Relat Res. 2022 Jun 15;34(1):28. doi: 10.1186/s43019-022-00156-0.

ABSTRACT

INTRODUCTION: Human immunodeficiency virus (HIV) is a retrovirus that can cause acquired immunodeficiency syndrome (AIDS). Total knee arthroplasty (TKA) in HIV-positive patients has not been well documented in the current literature. Thus, this study aimed to examine the early postoperative outcomes and complications of HIV-positive TKA patients as compared to TKA patients who are HIV-negative patients by utilizing the National Inpatient Sample (NIS) database.

METHODS: Admissions data for TKA and HIV were analyzed from the NIS database using ICD-10-CM diagnosis codes. An extensive array of preoperative and postoperative variables was compared among HIV positive TKA patients and HIV negative TKA patients. An unmatched analysis and a matched analysis using a 1:1 propensity match algorithm were conducted to compare the two groups.

RESULTS: The average age of the HIV-positive group was lower than the HIV-negative group (59.0 vs 66.7, p < 0.001). The HIV-positive group had a smaller percentage of females (38.4% vs 61.5%, p < 0.001) and a lower incidence of tobacco-related disorders than the HIV-negative group (10.3% vs 15.8%, p = 0.032). The HIV-positive group had a longer mean length of stay (3.0 days vs 2.4 days, p < 0.001) and a greater mean total charge incurred (90,780.25 vs 64,801.55, p < 0.001). In the unmatched analysis, the incidence of acute renal failure (6.4% vs 2%, p < 0.001), transfusions (3.9% vs 1.5%, p = 0.004), and periprosthetic joint infection (3% vs 1%, p = 0.007) was higher in HIV positive group. The matched analysis showed a higher incidence of acute renal failure group (6.4% vs 0.5%, p = 0.01) and transfusions (3.9% vs 5%, p = 0.01) in the HIV-positive but a statistically insignificant difference in the rate of periprosthetic joint infection (3% vs 1%, p = 0.153).

CONCLUSION: HIV/AIDS is associated with an increased incidence of acute renal failure and transfusions, as well as a longer length of stay and higher incurred costs in TKA patients.

PMID:35706063 | DOI:10.1186/s43019-022-00156-0

Vox Sang. 2022 Jun 15. doi: 10.1111/vox.13328. Online ahead of print.

ABSTRACT

BACKGROUND AND OBJECTIVES: To protect transfusion recipients from transfusion-transmissible infections, blood donors are deferred from donating after recent tattooing or piercing. To explore to what extent and how this deferral impacts donor availability, we performed an international study to investigate how many donors were deferred for a recent tattoo or piercing and how many of these donors returned to donate.

MATERIALS AND METHODS: We surveyed blood centre members of the Biomedical Excellence for Safer Transfusion (BEST) Collaborative and the European Blood Alliance Donor Studies Working Group on their numbers of donations, tattoo and piercing deferrals, and return rates in the year 2017.

RESULTS: Eight blood centres participated. Overall, deferral rates were lower for repeat donors compared to new donors. Repeat donors were more likely to return than new donors. Women and young donors were more often deferred than male and older donors. Men were more demotivated by tattoo or piercing deferral, resulting in lower return rates compared to women. Return rates differed greatly between blood centres.

CONCLUSION: Tattoo and piercing deferrals lead to missed donations and result in lower return rates. However, the numbers vary largely internationally, probably due to cultural and policy differences. Shortening deferral periods after tattooing or piercing may reduce the impact on donor availability, which should be investigated in single-centre studies.

PMID:35706056 | DOI:10.1111/vox.13328

Chin Med. 2022 Jun 15;17(1):71. doi: 10.1186/s13020-022-00632-5.

ABSTRACT

BACKGROUND: Rheumatoid arthritis (RA) is a chronic and refractory autoimmune disease. Deficiency pattern (DP) and excess pattern (EP), as crucial types of Chinese medicine pattern diagnoses published by International Classification of Diseases 11th Revision (ICD-11), could provide new strategies for RA diagnosis. However, the biological basis of DP and EP of RA is not explicit.

METHODS: 19 female RA DP patients, 41 female RA EP patients and 30 female healthy participants were included in the study. The serums of participants were collected and analyzed by metabolomics based on ultra-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry to profile metabolic characteristics of RA DP and EP. Furthermore, bioinformatics analysis results were obtained by using Ingenuity Pathway Analysis (IPA) and statistical analysis was performed by SAS version 9.4 for further identification of potential biomarkers.

RESULTS: Serum metabolic profiling revealed 25 and 24 differential metabolites in RA DP and EP respectively, and 19 metabolites were common to RA DP and EP. Compared with DP group, L-Homocysteic acid, LysoPE(P-16:0/0:0), N(omega)-Hydroxyarginine and LysoPC(16:0/0:0) decreased (P < 0.05), and Pyruvic acid, D-Ribose, Gamma-Glutamylserine, PE(22:0/24:1(15Z)), Inosinic acid increased (P < 0.05) in EP group. Menawhile, S-Nitrosoglutathione, 5-Thymidylic acid, SN38 glucuronide, PE(22:0/24:0), PC(24:0/24:1(15Z)) and Bisdiphosphoinositol tetrakisphosphate increased significantly in DP group compared to EP group (P < 0.05). For the unique metabolites, bioinformatics analysis results showed that 5-Methoxytryptamine involved in Melatonin Degradation II and Superpathway of Melatonin Degradation is the key metabolite to RA DP. Meanwhile, GABA is the key metabolite in EP group, which involved in Glutamate Dependent Acid Resistance, GABA Receptor Signaling, Glutamate Degradation III (via 4-aminobutyrate) and 4-aminobutyrate Degradation I. Bioinformatics analysis between unique metabolites of RA DP and EP groups with human target genes for RA showed that 5-methoxytryptamine and LysoPC(18:1(9Z)/0:0), the unique metabolites of RA DP, might participate in colorectal cancer metastasis signaling, tumor microenvironment pathway, apoptosis signaling, MYC mediated apoptosis signaling, erythropoietin signaling pathway and LXR/RXR activation. Simultaneously, GABA, LysoPA(18:1(9Z)/0:0) and L-Targinine, the unique metabolites of RA EP, might participate in neuroinflammation signaling pathway, osteoarthritis pathway, glucocorticoid receptor signaling, ILK signaling, IL-17 signaling and HIF1α signaling.

CONCLUSIONS: The study indicates that serum metabolomics preliminarily revealed the biological basis of RA DP and EP. 5-methoxytryptamine, LysoPC(18:1(9Z)/0:0) and GABA, LysoPA(18:1(9Z)/0:0), L-Targinine might be the predictors to distinguish the DP and EP of RA respectively. These interesting results provide thoughts for further study of traditional medicine patterns of ICD-11. It also contributes to provide strategy for personalized precision treatment of RA and further validation is needed.

PMID:35706052 | DOI:10.1186/s13020-022-00632-5

Gut Pathog. 2022 Jun 15;14(1):25. doi: 10.1186/s13099-022-00501-4.

ABSTRACT

BACKGROUND: Composition of gut microbiota has recently been suggested as a key factor persuading the pathogenesis of numerous human diseases including hepatic cirrhosis.

OBJECTIVE: To evaluate the potential impact of Lactobacillus acidophilus and Bifidobacterium bifidum microbiota on the progression of hepatic histopathological changes among patients with non-cirrhotic chronic hepatitis C (HCV) infection with different viral load. Additionally, to assess fecal composition of Lactobacillus acidophilus ATCC-4356 and Bifidobacterium bifidum ATCC-11863 microbiota genotypes MATERIAL AND METHODS: This study was carried out on 40 non-cirrhotic chronically infected HCV patients, and 10 healthy-controls. Liver biopsy and HCV genomic viral load were assessed for all patients after full clinical examination. Lactobacillus acidophilus ATCC-4356 and Bifidobacterium bifidum ATCC-11863 microbiota were assessed in all fecal samples using PCR assay, after counting total lactic acid bacteria.

RESULTS: There was a significantly higher difference between the count of both total lactic acid and Lactobacillus acidophilus of healthy controls compared to patients (P-value < 0.001). Though the count of total lactic acid bacteria, and Lactobacillus acidophilus were higher in the cases with early stage of fibrosis (score ≤ 1) compared to those with score > 1, there were no statistically significant differences with both the serum level of hepatitis C viremia (P = 0.850 and 0.977 respectively) and the score of fibrosis (P = 0.246 and 0.260 respectively). Genotypic analysis for the composition of the studied microbiota revealed that diversity was higher in healthy controls compared to patients.

CONCLUSIONS: The progression of hepatic fibrosis in HCV chronically infected patients seems to be plausible based on finding the altered Lactobacillus acidophilus and Bifidobacterium bifidum gut microbiota composition. Thus, modulation of these microbiota seems to be a promising target for prevention and control of HCV infection.

PMID:35706051 | DOI:10.1186/s13099-022-00501-4

Biol Sex Differ. 2022 Jun 15;13(1):30. doi: 10.1186/s13293-022-00440-4.

ABSTRACT

BACKGROUND: The sexual dimorphism represents one of the triggers of the metabolic disparities between the organisms, advising about wild implications in research or diagnostics contexts. Despite the mounting recognition of the importance of sex consideration in the biomedical fields, the identification of male- and female-specific metabolic signatures has not been achieved.

MAIN BODY: This review pointed the focus on the metabolic differences related to the sex, evidenced by metabolomics studies performed on healthy populations, with the leading aim of understanding how the sex influences the baseline metabolome. The main shared signatures and the apparent dissimilarities between males and females were extracted and highlighted from the metabolome of the most commonly analyzed biological fluids, such as serum, plasma, and urine. Furthermore, the influence of age and the significant interactions between sex and age have been taken into account.

CONCLUSIONS: The recognition of sex patterns in human metabolomics has been defined in diverse biofluids. The detection of sex- and age-related differences in the metabolome of healthy individuals are helpful for translational applications from the bench to the bedside to set targeted diagnostic and prevention approaches in the context of personalized medicine.

PMID:35706042 | DOI:10.1186/s13293-022-00440-4

Genome Biol. 2022 Jun 15;23(1):129. doi: 10.1186/s13059-022-02688-w.

ABSTRACT

A challenge in bulk gene differential expression analysis is to differentiate changes due to cell type-specific gene expression and cell type proportions. SCADIE is an iterative algorithm that simultaneously estimates cell type-specific gene expression profiles and cell type proportions, and performs cell type-specific differential expression analysis at the group level. Through its unique penalty and objective function, SCADIE more accurately identifies cell type-specific differentially expressed genes than existing methods, including those that may be missed from single cell RNA-Seq data. SCADIE has robust performance with respect to the choice of deconvolution methods and the sources and quality of input data.

PMID:35706040 | DOI:10.1186/s13059-022-02688-w

BMC Psychiatry. 2022 Jun 15;22(1):401. doi: 10.1186/s12888-022-04048-1.

ABSTRACT

BACKGROUND: ADHD is classically seen as a childhood disease, although it persists in one out of two cases in adults. The diagnosis is based on a long and multidisciplinary process, involving different health professionals, leading to an under-diagnosis of adult ADHD individuals. We therefore present a psychometric screening scale for the identification of adult ADHD which could be used both in clinical and experimental settings.

METHOD: We designed the scale from the DSM-5 and administered it to n = 110 control individuals and n = 110 ADHD individuals. The number of items was reduced using multiple regression procedures. We then performed factorial analyses and a machine learning assessment of the predictive power of the scale in comparison with other clinical scales measuring common ADHD comorbidities.

RESULTS: Internal consistency coefficients were calculated satisfactorily for TRAQ10, with Cronbach’s alpha measured at .9. The 2-factor model tested was confirmed, a high correlation between the items and their belonging factor. Finally, a machine-learning analysis showed that classification algorithms could identify subjects’ group membership with high accuracy, statistically superior to the performances obtained using comorbidity scales.

CONCLUSIONS: The scale showed sufficient performance for its use in clinical and experimental settings for hypothesis testing or screening purpose, although its generalizability is limited by the age and gender biases present in the data analyzed.

PMID:35706020 | DOI:10.1186/s12888-022-04048-1