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1.
Aesthetic Plast Surg ; 2024 Aug 26.
Article in English | MEDLINE | ID: mdl-39187587

ABSTRACT

BACKGROUND: In gender-affirming surgery, facial skeletal dimorphism is an important topic for every craniofacial surgeon. Few cephalometric studies have assessed this topic; however, they fall short to provide skeletal contour insights that direct surgical planning. Herein, we propose statistical shape modeling (SSM) as a novel tool for investigating mandibular dimorphism for young white individuals. METHODS: A single-center, retrospective study was performed using computed tomography (CT) scans of white individuals, aged 20 to 39 years old. AI-assisted, three-dimensional (3D) mandibles were reconstructed in Materialise Mimics v25.0. We used SSM to generate average 3D models for both genders. Relevant manual anthropometric measurements were taken for the SSMs and individual mandibles. Contour disparities were then represented using 3D overlays and heatmaps. Statistical analyses were performed using unpaired student t testing or Wilcoxon signed rank testing with 95% confidence interval as deemed appropriate by population-level normality assessment. RESULTS: Ninety-eight patients (53 females, 45 males) were included. Male mandibles showed greater bigonial width, intercondylar width, ramus height, and body length [p<0.005]. There was no statistically significant difference in the gonial angle measurements [p=0.62]. All relevant manual individual measurements demonstrated excellent concordance to their SSM counterparts. The 3D overlays of SSMs revealed squarer male chins with more lateral but less anterior projection than their female counterparts. Also, the female mandibles showed smoother transition at the gonial angle. CONCLUSIONS: SSM provides a novel tool to objectively evaluate volumetric and contour dimorphisms between genders. Moreover, this method can be automated, allowing for expedited comparisons between populations of interest compared to manual assessment. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors   www.springer.com/00266 . Bullet points about the importance of this work: Advancing Anthropometric Assessment: Statistical shape modeling (SSM) offers a cutting-edge approach to visualizing gender-specific skeletal anatomic differences for aesthetic and gender-affirming facial surgery. Expediting Comparative Analysis: The workflow established in this paper streamlines the evaluative process, enabling rapid morphologic comparisons between populations. Patient-Centered Care: This study establishes a foundation for the development of SSMs in individualized operative planning.

2.
Sci Total Environ ; 912: 169196, 2024 Feb 20.
Article in English | MEDLINE | ID: mdl-38097075

ABSTRACT

The safety of drinking water has always been a concern for people all over the world. N-nitrosamines (NAs), a kind of nitrogenous disinfection by-products (N-DBPs), are generally detected as a mixture in drinking water at home and abroad. Studies have shown that individual NAs posed strong carcinogenicity at high concentrations. However, health risks of NAs at environmental levels (concentrations in drinking water) are still unclear. Therefore, the potential health risks of environmentally relevant NAs exposure in drinking water needs to be conducted. In this study, blood biochemical analysis and metabolomics based on nuclear magnetic resonance (NMR) were performed to comprehensively investigate NAs induced metabolic disturbance in infant rats at environmental levels. Results of blood biochemical indices analysis indicated that AST in the serum of male rats in NAs-treated group exhibited a significant gender-specific difference. Multivariate statistics showed that two and eight significantly disturbed metabolic pathways were identified in the serum samples of NAs-treated male and female rats, respectively. In the urine samples of NAs-treated female rats, glycine, serine, and threonine metabolism pathway was significantly disturbed; while three significantly disturbed metabolic pathways were found in the urine of NAs-treated male rats. Finally, results of spearman correlation coefficients suggested that the disturbances of metabolism profile in serum and urine were correlated with changes in the gut microbiota (data derived from our published paper). Data presented here aimed to generate new health risk data of NAs mixture exposure at environmental levels and provide theoretical support for drinking water safety management. ENVIRONMENTAL IMPLICATION: N-nitrosamines (NAs) are a kind of nitrogenous disinfection by-products (N-DBPs) generated during drinking water disinfection processes. Herein, health risks of NAs at environmental levels (concentrations in drinking water) are investigated using blood biochemical analysis and nuclear magnetic resonance (NMR)-based metabolomics. Results confirmed NAs induced gender-specific on the metabolism in rat and the disturbances of metabolism profile in serum and urine were correlated with changes in the gut microbiota. Data presented here aimed to generate new health risk data of NAs mixture exposure at environmental levels and provide theoretical support for drinking water safety management.


Subject(s)
Disinfectants , Drinking Water , Nitrosamines , Water Pollutants, Chemical , Water Purification , Humans , Infant , Rats , Male , Female , Animals , Nitrosamines/toxicity , Nitrosamines/analysis , Drinking Water/chemistry , Water Purification/methods , Disinfection/methods , Magnetic Resonance Spectroscopy , Water Pollutants, Chemical/analysis , Disinfectants/analysis
3.
J Contemp Dent Pract ; 24(9): 700-706, 2023 Sep 01.
Article in English | MEDLINE | ID: mdl-38152945

ABSTRACT

AIM: The present study aimed to evaluate gender dimorphism of the skeletal and dental angles and measurements among different types of malocclusions in the Population of Jizan, Kingdom of Saudi Arabia (KSA). MATERIALS AND METHODS: Cephalometric data were retrieved from the archived records of 272 dental patients, comprising 134 males and 138 females. Skeletal and dental malocclusions in both the sub-groups were digitally studied. STATISTICAL ANALYSIS: The measurement reliability was assessed using the intra-class correlation coefficient (ICC). Non-parametric Mann-Whitney U tests were performed to evaluate the difference in skeletal and dental parameters between genders. The Chi-square test was done to determine the difference in malocclusion patterns amongst the gender. RESULTS: Statistical significance was noted in dental malocclusion (p-value = 0.003) and facial height, with females having a steeper mandible plan than males. The Sella-nasion-Nasion-Vertical line angles were reported high in females with no statistical significance. Linear cephalometric values were measured higher in males than females, whereas angular values and facial height parameters were lower in females than male. CONCLUSION: Within the limitation of this study, it could be concluded that there is a prominent difference measured in facial profiles of males and females with higher facial height in males. Clinical significance and limitations: These clinical outcomes will help orthodontists to analyze the accurate base angles and points to draft proper treatment plans considering the variation in the profile of males and females.


Subject(s)
Malocclusion , Sex Characteristics , Humans , Male , Female , Reproducibility of Results , Malocclusion/epidemiology , Face/anatomy & histology , Mandible , Cephalometry
4.
Front Psychiatry ; 14: 1276920, 2023.
Article in English | MEDLINE | ID: mdl-38098630

ABSTRACT

Objective: Reduced hemispheric asymmetry has been identified as a potential risk factor for schizophrenia, characterized by diminished brain lateralization and a lack of dominance in the left hemisphere. Moreover, there is growing evidence of disrupted connectivity between various cortical regions. This study aimed to investigate gender differences in left-footedness as a potential biological marker for neuronal dysontogenesis in individuals with schizophrenia and control subjects. Materials and methods: A New Combined Foot Dominance Scale (14 foot tests), comprising a Modified Chapman & Chapman Subscale (10 foot tests) and a Complex Tasks Subscale (four foot tests) was administered as performance tasks in 180 subjects [98 schizophrenia patients with mean age 34.45 years (SD = 15.67, range 23-79) for men and 42.20 years (SD = 11.38, range 21-63) for women and 82 controls with a mean age 34.70 years (SD = 16,82, range 18-79) for men and 44.50 years (SD = 10.73, range 23-67)]. As our data are not continuous and lacks normal distribution, the non-parametric Mann-Whitney test was used for comparing categorical data. Results: The mean left-footedness, as assessed by the New Combined Foot Dominance Scale, is significantly higher in individuals with schizophrenia compared to control subjects. Our findings from inter-gender comparisons reveal that female schizophrenia patients exhibit a significantly greater average left-footedness than female control subjects, while in males no such a statistical significant difference is detected. Conclusion: Left foot dominance is higher in patients with schizophrenia than in control subjects and women contribute significantly more to this difference.

5.
Immun Ageing ; 20(1): 46, 2023 Sep 04.
Article in English | MEDLINE | ID: mdl-37667259

ABSTRACT

BACKGROUND: Neutrophils and lymphocytes represent the larger percentage of all white blood cells, they vary with age, with a progressive increase of the ratio in the first years of life, and then tend to remain at similar levels in steady state condition during adult age. Neutrophils to lymphocytes-ratio (NL-ratio) was proposed as an effective and low-cost marker to monitor and predict the evolution of several clinical conditions. The main objective of the study is to analyze its temporal trend variation, over twenty years' follow-up, according to age, sex, and main clinical diagnosis, in a large representative Italian population. METHODS: The InCHIANTI study enrolled representative samples from the registry list of two towns in Tuscany, Italy. Baseline data were collected in 1998, and last follow-up visits were made in 2015-18. 1343 out of the 1453 participants enrolled were included, and consented to donate a blood sample. All subjects were assessed and followed for life-style, clinical condition, physical performance, and underwent an instrumental diagnostic session. RESULTS: The NL-ratio showed a statistically significant interaction between birth-cohort and time of the study (p-value = 0.005). A gender dimorphism was recognized in the neutrophils absolute count and in the NL-ratio. Moreover, in female participants only, those who reported CHF had lower neutrophil-count and NL-ratio; whereas an increase in creatinine clearance was directly associated with NL-ratio. In male subjects, an increase of BMI was inversely associated with both NL-ratio and neutrophils-count during the follow-up; a similar association but in the opposite direction was observed in female participants. CONCLUSION: NL-ratio is a more reliable predictor of healthy aging than absolute lymphocytes and/or neutrophils counts. It is associated with the changes induced by disease, lifestyle, and environmental challenges in the immune system. NL-ratio confirms the gender dimorphism in the occurrence of inflammation-driven diseases, thus providing additional evidence for the necessity of tailored sex-specific measures to prevent and treat such diseases.

6.
Int J Mol Sci ; 24(16)2023 Aug 13.
Article in English | MEDLINE | ID: mdl-37628936

ABSTRACT

This study aimed to assess the relationship between age-related changes in Neurofilament Light Chain (NFL), a marker of neuronal function, and various factors including muscle function, body composition, and metabolomic markers. The study included 40 participants, aged 20 to 85 years. NFL levels were measured, and muscle function, body composition, and metabolomic markers were assessed. NFL levels increased significantly with age, particularly in men. Negative correlations were found between NFL levels and measures of muscle function, such as grip strength, walking speed, and chair test performance, indicating a decline in muscle performance with increasing NFL. These associations were more pronounced in men. NFL levels also negatively correlated with muscle quality in men, as measured by 50 kHz phase angle. In terms of body composition, NFL was positively correlated with markers of fat mass and negatively correlated with markers of muscle mass, predominantly in men. Metabolomic analysis revealed significant associations between NFL levels and specific metabolites, with gender-dependent relationships observed. This study provides insights into the relationship between circulating serum NFL, muscle function, and aging. Our findings hint at circulating NFL as a potential early marker of age-associated neurodegenerative processes, especially in men.


Subject(s)
Body Composition , Intermediate Filaments , Male , Humans , Female , Muscles , Aging , Hand Strength
7.
J Oral Maxillofac Pathol ; 27(1): 130-137, 2023.
Article in English | MEDLINE | ID: mdl-37234319

ABSTRACT

Background: Forensic sciences deal with key areas to be included in judicial makeup that has been approved by both the court and the scientific community, which distinguishes truth from counterfeit. Lip and palmprints are one of a kind and do not change during the lifetime of a person unless any pathologies. Objectives: To evaluate the heritability, and gender dimorphism of lip and palm prints among parents and their offspring. Methods: A total of 280 participants were included in the study. Lip and palm prints were collected from participants using a digital camera. The photographic data obtained is subjected to Adobe Photoshop and analysed for inheritance. Gender dimorphism is evaluated by the predominant lip pattern and palm ridge count in four designated areas. Results: A positive resemblance of 28.4% was found between parents and offspring in lips, and for the right palm, it was 60.2% and 55.12% for the left palm (principal lines) which are statistically insignificant. In all six quadrants, the most predominant lip pattern found in males is type 5, and in females, type 11. The mean palm ridge density was significantly higher among females than males in all designated areas. Conclusion: The digital method of analysing lip and palm print images with Adobe Photoshop 7 software is a convenient method that allows for better visualisation and easier lip and palm print recording and identification. Considerable inheritance patterns and gender dimorphism were observed that aid in personal identification.

8.
Clin Exp Med ; 23(3): 929-941, 2023 Jul.
Article in English | MEDLINE | ID: mdl-35467314

ABSTRACT

Immunoglobulin A (Chan in J Allergy Clin Immunol 134:1394-14014e4, 2014), the second most abundant immunoglobulin in serum, plays an important role in mucosal homeostasis. In human serum, there are two subclasses of IgA, IgA1 (≅ 90%) and IgA2 (≅ 10%), transcribed from two distinct heavy chain constant regions. This study evaluated the serum concentrations of total IgA, IgA1, and IgA2, and total IgG, IgG1, IgG2, IgG3, and IgG4 in T2-high asthmatics compared to healthy controls and the presence of gender-related variations of immunoglobulins. Total IgA levels were increased in asthmatics compared to controls. Even more marked was the increase in total IgA in male asthmatics compared to healthy male donors. IgA1 were increased only in male, but not in female asthmatics, compared to controls. Concentrations of IgG2, but not IgG1, IgG3, and IgG4, were reduced in asthmatics compared to controls. IgG4 levels were reduced in female compared to male asthmatics. In female asthmatics, IgA and IgA1 levels were increased in postmenopause compared to premenopause. IgA concentrations were augmented in mild, but not severe asthmatics. A positive correlation was found between IgA levels and the age of patients and an inverse correlation between serum concentrations of IgA2 and IgE in asthmatics. A positive correlation between total IgA or IgA2 and IgG2 was found in asthmatics. These results highlight a gender dimorphism in IgA subclasses in male and female T2-high asthmatics. More adequate consideration of immunological gender disparity in asthma may open new opportunities in personalized medicine by optimizing diagnosis and targeted therapy.


Subject(s)
Asthma , Sex Characteristics , Humans , Male , Female , Immunoglobulin A , Immunoglobulin G , Mucous Membrane
9.
Front Genet ; 13: 1052092, 2022.
Article in English | MEDLINE | ID: mdl-36531243

ABSTRACT

Background: Lung adenocarcinoma (LUAD) is a sex-biased and easily metastatic malignant disease. A signature based on 5 long non-coding RNAs (lncRNAs) has been established to promote the overall survival (OS) prediction effect on LUAD. Methods: The RNA expression profiles of LUAD patients were obtained from The Cancer Genome Atlas. OS-associated lncRNAs were identified based on the differential expression analysis between LUAD and normal samples followed by survival analysis, univariate and multivariate Cox proportional hazards regression analyses. OS-associated lncRNA with sex dimorphism was determined based on the analysis of expression between males and females. Functional enrichment analysis of the Gene Ontology (GO) terms and the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways was performed to explore the possible mechanisms of 5-lncRNA signatures. Results: A 5-lncRNA signature (composed of AC068228.1, SATB2-AS1, LINC01843, AC026355.1, and AL606489.1) was found to be effective in predicting high-risk LUAD patients as well as applicable to female and male subgroups and <65-year and ≥65-year age subgroups. The forecasted effect of the 5-lncRNA signature was more efficient and stable than the TNM stage and other clinical risk factors (such as sex and age). Functional enrichment analysis revealed that the mRNA co-expressed with these five OS-related lncRNAs was associated with RNA regulation within the nucleus. AL606489.1 demonstrated a sexual dimorphism that may be associated with microtubule activity. Conclusion: Our 5-lncRNA signature could efficaciously predict the OS of LUAD patients. AL606489.1 demonstrated gender dimorphism, which provides a new direction for mechanistic studies on sexual dimorphism.

10.
Ther Adv Med Oncol ; 14: 17588359221108690, 2022.
Article in English | MEDLINE | ID: mdl-35782750

ABSTRACT

Background: The effect of gender on the prognosis of bladder cancer (BCa) in different metastatic sites is insufficiently understood. We aimed to assess the impact and potential mechanisms of a combination of gender dimorphism and BCa metastasis sites on the risk of death. Methods: Independent predictors of overall survival and cancer-specific survival were analyzed after stratification by gender and metastasis sites from the Surveillance, Epidemiology, and End Results database. Furthermore, gender-differentially expressed genes (DEGs) and function-enriched annotations for patients with lymph node metastasis (LNM) were identified from The Cancer Genome Atlas (TCGA) database. A gender-associated signature was constructed in TCGA and validated in the IMvigor210 trial, and the magnetic resonance imaging-based radiomics signature was developed in our center to predict the gender-associated signature. Results: In patients with metastatic BCa, the most common site of metastasis is bone in men and lung in women. Moreover, stratified by sex, LNM had a better prognosis in men than visceral metastasis, which was not observed in female. Similarly, stratified by the metastasis site, the prognosis of men in patients with LNM is better than that of women, which was not observed in visceral metastasis patients. Enrichment of DEGs between sexes in patients with LNM may be related to metastasis and tumor immunity, especially the role of neutrophils. Moreover, the gender-associated signature is related to the clinicopathological characteristics of patients, and patients in the high-risk group had worse survival outcomes, and higher susceptibility to cisplatin, docetaxel, camptothecin, and paclitaxel. A nomogram combined with the signature and clinical staging showed significant predictive power in survival prediction. Furthermore, patients with high radiomics scores had a strong tendency for high-risk group. Conclusion: These results may improve the understanding of the differences in tumor biology between sexes and thus provide additional evidence for individualized treatment in BCa.

11.
Am Surg ; 88(11): 2619-2625, 2022 Nov.
Article in English | MEDLINE | ID: mdl-35576492

ABSTRACT

BACKGROUND: Age, race, and gender differences in coagulation status of healthy volunteers have been reported in previous case series; however, rigorous multivariate analysis adjusting for these factors is lacking. We aimed to investigate the effects of age, race, and gender on baseline coagulation status in healthy volunteers. METHODS: Thirty healthy volunteer controls with no history of bleeding or thrombotic events and no previous anticoagulant or antiplatelet use were recruited. Citrated and heparinized blood samples were drawn, and kaolin and platelet-mapping thromboelastography (TEG) assays performed. RESULTS: Thirty participants had a mean age of 37, mean body mass index of 29 kg/m2, and were 47% African-American and 70% female. Women were significantly older than men (40 ± 11 y vs 28 ± 7 y, P = .002); there were no significant differences in demographics by race. Multivariate analysis of variance for the effect of age, race, and gender across TEG parameters yielded evidence for gender differences in hypercoagulability (Pillai's trace P = .02), which appear to be driven by differences in K-time, alpha angle, maximal amplitude, and G parameter. Women were hypercoagulable compared to men, as manifested by shorter K-time, steeper alpha angle, higher maximal amplitude, and larger G parameter. DISCUSSION: Women at baseline have relatively hypercoagulable fibrin deposition kinetics, platelet contributions to clot formation, and overall clot strength compared to men, even when adjusted for age and race. Additional research is needed to specifically detail the key patient-level factors, clinical implications, and opportunities for tailored therapy related to gender-associated hypercoagulability.


Subject(s)
Thrombophilia , Thrombosis , Adult , Anticoagulants , Female , Fibrin , Humans , Kaolin/pharmacology , Male , Thrombelastography , Thrombophilia/diagnosis
12.
Anticancer Res ; 42(5): 2261-2276, 2022 May.
Article in English | MEDLINE | ID: mdl-35489753

ABSTRACT

The X-chromosome is implicated in cancer development through various mechanisms, including X-inactivation defects, loss of heterozygosity, and germline and somatic alterations of X-linked genes. Sex is a key factor which influences cancer susceptibility as many cancer types show sexual dimorphism in their incidence. The aim of this review was to summarize the germline genetic polymorphisms lying on the X-chromosome that have been associated with cancer susceptibility and to evaluate their possible implication in cancer-related sexual dimorphism. PubMed and Web of Science were searched using the terms "X-chromosome", "polymorphism" and "cancer". The literature review revealed 39 articles reporting 33 genetic variants in 22 X-linked genes as being associated with cancer risk. Most of these genes interact with each other in a direct or indirect way, as GeneMANIA software revealed, demonstrating the complication of the mechanisms through which they are involved in tumorigenesis. Polymorphisms in eight genes [androgen receptor (AR), fibroblast growth factor 13 (FGF13), forkhead box P3 (FOXP3), L1 cell adhesion molecule (L1CAM), nudix hydrolase 11 (NUDT11), Shroom family member 2 (SHROOM2), transcription elongation factor A-like 7 (TCEAL7) and TIMP metallopeptidase inhibitor 1 (TIMP1)] are reported to have a sex-specific association with cancer susceptibility, which might explain the sexual dimorphism of certain cancer types. All of the above eight mentioned genes, with the exception of L1CAM, exhibit differences in their expression pattern between breast tumor (sex-specific)/thyroid tumor (sex-influenced) vs. normal tissues according to our analysis using GENT2 software. Additionally, differences in breast or thyroid tumor compared with normal tissues were also observed in five genes analyzed with GENT2 software that were previously related to sex-influenced cancer according to literature. Finally, the present review points out the need for the development of appropriate free and user-friendly statistical software in order to reduce bias/errors in statistical analyses and overcome researchers' reluctance to include X-chromosome variants in their genetic-association studies.


Subject(s)
Neural Cell Adhesion Molecule L1 , Thyroid Neoplasms , Female , Genes, X-Linked , Humans , Male , Membrane Proteins , Nuclear Proteins , Polymorphism, Genetic , Sex Characteristics
13.
Front Behav Neurosci ; 16: 819146, 2022.
Article in English | MEDLINE | ID: mdl-35418841

ABSTRACT

The analysis of kinematics, locomotion, and spatial tasks relies on the accurate detection of animal positions and pose. Pose and position can be assessed with video analysis programs, the "trackers." Most available trackers represent animals as single points in space (no pose information available) or use markers to build a skeletal representation of pose. Markers are either physical objects attached to the body (white balls, stickers, or paint) or they are defined in silico using recognizable body structures (e.g., joints, limbs, color patterns). Physical markers often cannot be used if the animals are small, lack prominent body structures on which the markers can be placed, or live in environments such as aquatic ones that might detach the marker. Here, we introduce a marker-free pose-estimator (LACE Limbless Animal traCkEr) that builds the pose of the animal de novo from its contour. LACE detects the contour of the animal and derives the body mid-line, building a pseudo-skeleton by defining vertices and edges. By applying LACE to analyse the pose of larval Drosophila melanogaster and adult zebrafish, we illustrate that LACE allows to quantify, for example, genetic alterations of peristaltic movements and gender-specific locomotion patterns that are associated with different body shapes. As illustrated by these examples, LACE provides a versatile method for assessing position, pose and movement patterns, even in animals without limbs.

14.
Int J Parasitol ; 51(12): 985-987, 2021 11.
Article in English | MEDLINE | ID: mdl-34273393

ABSTRACT

Parasite virulence often differs between male and female hosts. However, less is known about how virulence might differ between male and female parasites. Here, I show that female plants of the dioecious mistletoe Misodendrum quadrifolium (Misodendraceae) grow larger than male plants. Correspondingly, females reduce the photosynthetic capacity of infected host branches more than males. Results indicate that in addition to playing an important role in determining host susceptibility to parasitism, gender can also play an important role in determining the virulence of dioecious parasites.


Subject(s)
Mistletoe , Parasites , Animals , Plants , Sex Characteristics , Virulence
15.
Sud Med Ekspert ; 64(1): 24-28, 2021.
Article in Russian | MEDLINE | ID: mdl-33511830

ABSTRACT

THE AIM OF THE STUDY: Is to establish the morphometric features of the human cricoid cartilage structure using anthropometric research. Cricoid cartilage was examined from 37 men and 30 women. Using an electronic caliper and scales, 17 metric parameters and the mass of the cricoid cartilage were established, and a statistical analysis of the results obtained was carried out. It was found that the greatest relationship with the gender had the following dimensions: the distance from the upper outer edge of the plate to the outer edge of the arch and the height of the cricoid cartilage plate, the distance between the arytenoid articular surfaces, and the mass of cricoid cartilage. The data obtained confirmed the gender dimorphism of the cricoid cartilage. The data of this study can be used in expert practice for forensic medical identification of a person.


Subject(s)
Cricoid Cartilage , Sex Characteristics , Anthropometry , Female , Humans , Male
16.
Curr Pediatr Rev ; 16(4): 249-254, 2020.
Article in English | MEDLINE | ID: mdl-32720604

ABSTRACT

Gender dimorphism in autism spectrum disorders (ASD) is well known; however, the reasons for gender differences in autism are poorly understood. There are several hypotheses that might explain male prevalence in ASD, including increased levels of androgens, "extreme male brain," and a combination of elevated levels of prenatal testosterone in conjunction with prenatal stress. In this comprehensive review, differences in the gut microbiome and metabolome in humans and animals are described to explain gender differences in individuals with ASD, effects on behavior and social interactions and the impact of antibiotics, probiotics and fecal transplants. The bidirectional relationship between sex hormones and intestinal microbiota could also be relevant. Such interactions have been described in autoimmune diseases, but thus far, are not implicated in ASD. Since intestinal microbiota may affect behavior, it is possible that the prevalence of ASD in boys may be associated with more significant changes in the intestinal microbiome than in affected girls.


Subject(s)
Autism Spectrum Disorder , Gastrointestinal Microbiome , Probiotics , Animals , Anti-Bacterial Agents , Autism Spectrum Disorder/epidemiology , Brain , Female , Humans , Male , Probiotics/therapeutic use
17.
Ther Adv Musculoskelet Dis ; 12: 1759720X20918456, 2020.
Article in English | MEDLINE | ID: mdl-32523636

ABSTRACT

Systemic sclerosis (SSc) is a life-threatening connective tissue disorder of unknown etiology characterized by widespread vascular injury and dysfunction, impaired angiogenesis, immune dysregulation and progressive fibrosis of the skin and internal organs. Over the past few years, a new trend of investigations is increasingly reporting aberrant epigenetic modifications in genes related to the pathogenesis of SSc, suggesting that, besides genetics, epigenetics may play a pivotal role in disease development and clinical manifestations. Like many other autoimmune diseases, SSc presents a striking female predominance, and even if the reason for this gender imbalance has yet to be completely understood, it appears that the X chromosome, which contains many gender and immune-related genes, could play a role in such gender-biased prevalence. Besides a short summary of the genetic background of SSc, in this review we provide a comprehensive overview of the most recent insights into the epigenetic modifications which underlie the pathophysiology of SSc. A particular focus is given to genetic variations in genes located on the X chromosome as well as to the main X-linked epigenetic modifications that can influence SSc susceptibility and clinical phenotype. On the basis of the most recent advances, there is realistic hope that integrating epigenetic data with genomic, transcriptomic, proteomic and metabolomic analyses may provide in the future a better picture of their functional implications in SSc, paving the right way for a better understanding of disease pathogenesis and the development of innovative therapeutic approaches.

18.
Mol Cell Endocrinol ; 498: 110575, 2019 12 01.
Article in English | MEDLINE | ID: mdl-31499134

ABSTRACT

Evolutionally conserved in all mammalians, the release of GH occurs in a rhythmic pattern, characterized by several dominant surges (pulsatile GH) with tonic low inter-pulse levels (tonic GH). Such pulsatile secretion pattern is essential for many physiological actions of GH on different tissues with defined gender dimorphism. Rhythmic release of pulsatile GH is tightly controlled by hypothalamic neurons as well as peripheral metabolic factors. Changes of GH pattern occur within a range of sophisticated physiological and pathological settings and significantly contribute to growth, ageing, survival and disease predispositions. Precise analysis of GH secretion pattern is vitally important for a comprehensive understanding of the function of GH and the components that regulate GH secretion pattern.


Subject(s)
Aging/physiology , Diabetes Mellitus/physiopathology , Growth Hormone/metabolism , Obesity/physiopathology , Animals , Rodentia
19.
Forensic Sci Int ; 301: 225-230, 2019 Aug.
Article in English | MEDLINE | ID: mdl-31176139

ABSTRACT

The agenesis of one or both upper thyroid horns (UTH) cannot be considered rare with an incidence ranging between 0.8-9.4%. Studies so far have mostly described frequencies, yet surveys on its morphology and traumatology are missing. It is unknown to what extent this anatomical variant impacts the overall symmetry of the larynx. For the trauma reconstruction after cervical trauma this knowledge is required as an asymmetric larynx can show a different fracture pattern. In this investigation, larynxes with unilateral (n=21)/bilateral (n=5) agenesis of the upper thyroid horn(s) and a control group with regular larynxes (n=23) were juxtaposed. Various measurements were taken after µ-CT scanning. In total 10 distances/angles for the thyroid cartilage and 8 for the cricoid cartilage were compared. Using intra-individual and matched pair comparisons the symmetry was assessed. The results of this investigation showed significant differences in the intra-individual and pairwise comparison for the opening angle and the length of the thyroid alae although the lateral inclination of the thyroid alae showed no significant difference. Combining these three parameters into one symmetry score, the comparison was not significant. This research demonstrates that neither unilateral nor bilateral agenesis of the UTH is related to a structural disbalance of the larynx. Thus, different fracture patterns or vulnerabilities are not to be expected.


Subject(s)
Thyroid Cartilage/abnormalities , Thyroid Cartilage/diagnostic imaging , Adult , Aged , Aged, 80 and over , Case-Control Studies , Cricoid Cartilage/anatomy & histology , Cricoid Cartilage/diagnostic imaging , Female , Forensic Medicine , Humans , Larynx/anatomy & histology , Larynx/diagnostic imaging , Male , Middle Aged , Sex Characteristics , X-Ray Microtomography , Young Adult
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