Normal Males Research Articles

Regulation of proglucagon derived peptides by carbohydrate and protein ingestion in young healthy males–A randomized, double-blind, cross-over trial

Background & AimsThe ingestion of macronutrients triggers the release of several incretin peptides from the gastrointestinal system, which have both insulinotropic and satiety-inducing properties. The effect of the meal’s macronutrient content on the secretion of these peptides has not been adequately studied, particularly concerning the secretion of the newly characterized proglucagon-derived peptides (PGDPs). We aimed to examine the effect of a meal’s macronutrient content, specifically its protein versus carbohydrate content, on postprandial PGDPs responses in healthy men. MethodsTen apparently healthy, normal weight males completed a trial consisting of two interventions in a randomized, double-blind, crossover design. In one intervention, participants consumed an isocaloric high-protein breakfast (65 g of glucose, 60 g of protein), while in the other, participants consumed a carbohydrate-rich breakfast (125 g of glucose). Levels of all seven PGDPs, namely glucagon-like peptide-1 and -2(GLP-1 and GLP-2), oxyntomodulin, glicentin, Major pro-glucagon fragment (MPGF), glucagon and proglucagon, as well as Gastric Inhibitory Polypeptide total and total plus (GIP total and GIP total plus) levels were measured at baseline, every 15 minutes for the first hour and every 30 minutes for the second and third hours after each meal. ResultsThe two interventions produced similar glycemic and insulinemic responses, while total amino acids increased more over time in response to protein administration. Levels of proglucagon (F(8)=4.114, p=0.001)and the primarily pancreas-secreted glucagon and MPGF (F(8)=3.088, p=0.005) rose significantly during the protein intervention . GIP total and GIP total plus increased in response to carbohydrate ingestion. No major overall differences were observed for the primarily intestinally secreted GLP-1, oxyntomodulin and glicentin between the two arms of the trial, although their levels tended to increase earlier in response to carbohydrates and later in response to protein administration, especially in the case of GLP-2 levels. ConclusionsThe carbohydrate vs. protein content of a meal differentially increases the levels of GIP and PGDPs during the postprandial period. Dose-response studies and comparisons with lipid intake may further advance our knowledge of the physiology of these clinically important molecules and their implications in energy homeostasis

Abstract 4132769: Carnosine Supplementation Improves Walking Ability of Peripheral Arterial Disease Patients

Introduction: Peripheral artery disease (PAD) is a significant cause of cardiovascular morbidity and mortality, characterized by atherosclerosis in the skeletal muscle. Currently no mechanism-based therapeutics are available for this diseased population. In the muscle, histidyl dipeptides, such as carnosine (ranging between 5-10 mM) possess the abilities to bind with toxic lipid peroxidation products, such as acrolein. Preclincial studies show carnosine is depleted in the ischemic leg, increasing intramuscular carnosine improves angiogenesis, and blood flow in the ischemic leg. In humans, carnosine levels are increased in the muscle with carnosine supplementation. However, little is known whether carnosine levels are affected in PAD patients and its effect on their walking ability. Hypothesis: Carnosine supplementation will improve walking ability of PAD patients. Methods: We recruited normal (males: n=48; females: n=52; age: 50 ±10 years) and PAD subjects (males: n=52; females: n=41; age: 67±8 years; ankle brachial index (ABI): 0.65±0.18 measured urinary histidyl dipeptides, histidyl dipeptide-aldehyde conjugates, and oxidative stress markers: N-Acetyl-S-(3-hydroxypropyl)-L-Cysteine (3-HPMA) and N-acetyl-S-(2-carboxyethyl)-L-cysteine (CEMA), both are acrolein metabolites. PAD subjects (n=7; n=5 females and n=2 males; ABI: 0.68±0.08, age: 63±8 years) were supplemented with carnosine 2 g/day for 3 months, measured distance covered in a six-minute walk test (6MWT), ABI, blood profile at baseline and after completion. Results: In PAD subjects urinary carnosine was decreased (normal: 20±29 vs PAD:11±14 nmoles/mg creatinine, p<0.024), carnosine aldehdye conjugates were increased (carnosine propanal: 1.46±1.27 vs normal 0.56±1.08 nmoles/mg creatinine, p<0.0001; and carnosine propanol: 4.66±2.80 vs normal 1.52±1.21 nmoles/mg creatinine, p<0.0001). Oxidative stress markers were increased in the PAD subjects (CEMA: 341±210 vs normal: 119±86 ng/mg creatinine, p<0.0004 and 3HPMA: 6.57±6.32 ng/mg protien vs normal: 5.49±5.28 ng/mg creatinine, p<0.001). Following carnosine supplementation, blood profile was unchanged. Distance covered in 6MWT increased by 166±204 feet (before: 577±129 vs 743±152 feet after, p<0.048) and there was an increasing trend in ABI (before: 0.68±0.08 vs 0.80±0.19; after, p<0.18). Conclusion: Urinary carnosine could serve as a biomarker to evaluate PAD pathology and carnosine supplementation may improve walking ability of PAD patients.

Analysis of the mean electrical axis of the heart from standard electrographic leads in normal adult males

Background: Electrocardiogram has been widely applied as a diagnostic tool for cardiovascular disease. The concept of the cardiac vector is crucial for the clinical application in ECG interpretation. Methods: A prospective cross-sectional study was conducted among 116 male subjects, aged 18-25 years, comprising students and staff of Gandaki Medical College Teaching Hospital and Research Center, Pokhara, Nepal, over the period from June to September 2023. Electrocardiograms (ECGs) were recorded using a standard ECG machine with conventional limb leads. The mean electrical axis of the heart for each individual was determined by plotting the net voltage of the QRS complex in Lead-I and Lead-III. The study aimed to analyze the correlation between the cardiac vector and physical measurements, such as height, weight, Body Surface Area (BSA), and Body Mass Index (BMI). Data analysis was performed using SPSS version 27.0. Results: The normal mean electrical axis of the healthy male subjects was observed as 57.88±24.55°. There was significant positive correlation of cardiac vector with height (p< 0.05), whereas negative correlation was observed with weight and BMI (p< 0.01). However, there was no significant correlation with BSA. In our study we observed the maximum left axis cardiac vector as -10° and right axis as 90° among 116 male subjects. Conclusion: We established a cardiac vector with values differing from those reported in other studies, using standard bipolar limb leads in normal, healthy male subjects. It is also examined that greater BMI has shifted the electrical activity of the ventricles to the left.

Impact of CT attenuation correction on viable myocardium detection in combined SPECT and PET/CT: A retrospective cohort study.

The influence of computed tomography attenuation correction (CTAC) on the accuracy of diagnosing viable myocardium using Tc-99m-MIBI dedicated cardiac cadmium-zinc-telluride (CZT) single-photon emission computed tomography (SPECT) myocardial perfusion imaging (MPI) combined with F-18-FDG Positron Emission Tomography/Computed Tomography (PET/CT) metabolic imaging, compared with conventional SPECT MPI, remains to be fully elucidated. To evaluate the impact of CTAC on the accuracy of diagnosing viable myocardium using Tc-99m-MIBI dedicated cardiac CZT SPECT MPI combined with F-18-FDG PET/CT, compared to conventional SPECT MPI. 193 patients underwent CZT SPECT and F-18-FDG PET/CT imaging, while 39 patients underwent conventional SPECT and F-18-FDG PET/CT imaging, with both groups utilizing CT for attenuation correction. The injured myocardium (hibernating and scarring) was quantified using the Q.PET software. After CTAC, both groups showed significant improvements in perfusion of the injured myocardial areas, particularly in the inferior wall (INF). The reduction in perfusion was more notable in the CZT SPECT group than that in the conventional group, particularly in the inferior and lateral walls. Among patients with large cardiac chambers, those undergoing MPI with CZT, with normal weights, or males, hibernating myocardium (HM) and scar post-CTAC reductions were particularly significant in the INF. If HM ≥ 10% is considered an indicator for recommended revascularization, among the 87 patients without prior cardiac bypass, 25 (28.7%) might not require revascularization treatment. Dedicated cardiac CZT SPECT and conventional SPECT MPI combined with F-18-FDG PET/CT significantly influenced the assessment of viable myocardium. The impact of CTAC was more profound in dedicated cardiac CZT SPECT, particularly in the INF region. CTAC significantly enhances the accuracy of viable myocardial assessment and may influence clinical decisions regarding revascularization therapy. Therefore, CTAC should be routinely used in dedicated cardiac CZT SPECT MPI combined with F-18-FDG PET/CT for myocardial viability diagnosis.

High levels of bisphenol A among infertile men can impair spermatogenesis by oxidative stress and elevated levels of microRNA-337

BackgroundStudies have shown that Bisphenol A may interfere with the process of spermatogenesis and result in a decrease in the quality of semen. Nevertheless, the fundamental processes remain unclear. This study was done to investigate the connections between exposure to Bisphenol A, spermatogenesis with microRNA-337, and malondialdehyde in infertile men.MethodsThis study was a case–control study on 73 participants. Infertile group (1a): azoospermia (n = 16), infertile group (1b): oligozoospermia (n = 22), and control group (2): normospermic (n = 35) were enrolled in this study. Full history, local examination, semen analysis, and urine and blood samples were taken from all participants. Urinary Bisphenol A, malondialdehyde, and serum microRNA-337 were measured.ResultsThe mean Bisphenol A level in azoospermia group shows statistically significant increase comparing to fertile control group. The mean microRNA-337 level in oligozoospermia and azoospermia group shows statistically significant increase comparing to fertile controls. The mean malondialdehyde level in infertility groups shows statistically significant increase comparing to fertile control group. No linear correlations were recorded between Bisphenol A levels with semen quality parameters, hormonal profile, and microRNA-337.ConclusionWhile there is no significant change in the levels of Bisphenol A between normal fertile males and infertile males with oligozospermia, a significant elevation in the BPA level was observed in infertile males with azoospermia. A significant upregulation of the miRNA-337 gene expression in infertile males either oligozospermia or azoospermia was also observed. In addition, lipid peroxidation as evident by the significant elevation of MDA levels was marked among infertile patients.

Transcriptome analysis of four types of gonadal tissues in largemouth bass (Micropterus salmoides) to reveal its sex-related genes.

The sex determination system of largemouth bass (Micropterus salmoides, LMB) is XX/XY; however, the underlying molecular mechanisms involved in early sex differentiation, gonadal development, and exogenous hormone-induced sex reversal remain unknown. In this study, LMB at 15days post-hatching (dph) were fed diets containing 20mg/kg of 17α-methyltestosterone (17α-MT) or 30mg/kg of 17β-estradiol (17β-E2) for 60days, respectively. Serum steroid levels, histological observations of the gonads, and identification of sex-specific markers were employed to screen the gonads of 60-day-old normal female fish (XX-F), normal male fish (XY-M), 17β-E2 induced pseudo-female fish (XY-F), and 17α-MT-induced pseudo-male fish (XX-M) for transcriptome sequencing in order to uncover genes and pathway involved in the process of sexual reversal. The results from histology and serum sex steroid hormone analysis showed that both 17α-MT and 17β-E2 were capable of inducing sex reversal of LMB at 15dph. Transcriptome results revealed a total of 2,753 genes exhibiting differential expression, and the expression pattern of these genes in the gonads of XX-M or XY-F resembled that of normal females or males. The male sex-biased genes that are upregulated in XX-M and downregulated in XY-F are referred to as key genes for male reversal, while the female sex-biased genes that are upregulated in XY-F and downregulated in XX-M are referred to as key genes for female reversal. Finally, 12 differentially expressed genes (DEGs) related to male sex reversal were screened, including star2, cyp17a, cyp11b1, dmrt1, amh, sox9a, katnal1, spata4, spata6l, spata7, spata18 and foxl3. 2 DEGs (foxl2a and cyp19a1b) were found to be associated with female sex reversal. The changes in these genes collectively influence the direction of sex differentiation of LMB. Among them, star2, dmrt1 and cyp19a1b with significantly altered expression levels may play potentially crucial role in the process of gender reversal. The expression patterns of 21 randomly selected genes were verified using qRT-PCR which confirmed the reliability and accuracy of the RNA-seq results. These findings not only enhance our understanding of the molecular basis underlying sex reversal but also provide crucial data support for future breeding research on unisexual LMB.

Correlation between tooth decay and insulin resistance in normal weight males prompts a role for myo-inositol as a regenerative factor in dentistry and oral surgery: a feasibility study.

In an era of precision and stratified medicine, homogeneity in population-based cohorts, stringent causative entry, and pattern analysis of datasets are key elements to investigate medical treatments. Adhering to these principles, we collected in vivo and in vitro data pointing to an insulin-sensitizing/insulin-mimetic effect of myo-inositol (MYO) relevant to cell regeneration in dentistry and oral surgery. Confirmation of this possibility was obtained by in silico analysis of the relation between in vivo and in vitro results (the so-called bed-to-benchside reverse translational approach). Fourteen subjects over the 266 screened were young adult, normal weight, euglycemic, sedentary males having normal appetite, free diet, with a regular three-times-a-day eating schedule, standard dental hygiene, and negligible malocclusion/enamel defects. Occlusal caries were detected by fluorescence videoscanning, whereas body composition and energy balance were estimated with plicometry, predictive equations, and handgrip. Statistically significant correlations (Pearson r coefficient) were found between the number of occlusal caries and anthropometric indexes predicting insulin resistance (IR) in relation to the abdominal/visceral fat mass, fat-free mass, muscular strength, and energy expenditure adjusted to the fat and muscle stores. This indicated a role for IR in affecting dentin reparative processes. Consistently, in vitro administration of MYO to HUVEC and Swiss NIH3T3 cells in concentrations corresponding to those administered in vivo to reduce IR resulted in statistically significant cell replication (ANOVA/Turkey tests), suggesting that MYO has the potential to counteract inhibitory effects of IR on dental vascular and stromal cells turnover. Finally, in in silico experiments, quantitative evaluation (WOE and information value) of a bioinformatic Clinical Outcome Pathway confirmed that in vitro trophic effects of MYO could be transferred in vivo with high predictability, providing robust credence of its efficacy for oral health. Our reverse bed-to-benchside data indicate that MYO might antagonize the detrimental effects of IR on tooth decay. This provides feasibility for clinical studies on MYO as a regenerative factor in dentistry and oral surgery, including dysmetabolic/aging conditions, bone reconstruction in oral destructive/necrotic disorders, dental implants, and for empowering the efficacy of a number of tissue engineering methodologies in dentistry and oral surgery.

Hybridization between Aedes aegypti and Aedes mascarensis mosquitoes leads to disruption of male sex determination

Understanding the sex determination pathway and its disruptions in mosquitoes is critical for the effective control of disease vectors through genetic manipulations based on sex separation. When male hybrids of Aedes aegypti females and Ae. mascarensis males are backcrossed to Ae. aegypti females, a portion of the backcross progeny manifests as males with abnormal sexual differentiation. We discovered a significant correlation between pupal abnormalities and the feminization of subsequent adults exemplified by the relative abundance of ovarian and testicular tissues. All intersex individuals were genetic males as they expressed a male determining factor, Nix. Further, our analysis of the sex-specific splicing of doublesex and fruitless transcripts demonstrated the presence of both male and female splice variants indicating that sex determination is disrupted. A comparative transcriptomic analysis revealed similar expression levels of most female-associated genes in reproductive organs and carcasses between intersexual males and normal females. Moreover, intersexes had largely normal gene expression in testes but significant gene downregulation in male accessory glands when compared with normal males. We conclude that evolving hybrid incompatibilities between Ae. aegypti and Ae. mascarensis involve disruption of sex determination and are accompanied by changes in gene expression associated with sexual differentiation.

5 mC modification of steroid hormone biosynthesis-related genes orchestrates feminization of channel catfish induced by high-temperature

To elucidate the mechanism behind channel catfish feminization induced by high temperature, gonad samples were collected from XY pseudo-females and wild-type females and subjected to high-throughput sequencing for Whole-Genome-Bisulfite-Seq (WGBS) and transcriptome sequencing (RNA-Seq). The analysis revealed 50 differentially methylated genes between wild-type females and XY pseudo-females, identified through the analysis of KEGG pathways and GO enrichment in the promoter of the genome and differentially methylated regions (DMRs). Among these genes, multiple differential methylation sites observed within the srd5a2 gene. Repeatability tests confirmed 7 differential methylation sites in the srd5a2 gene in XY pseudo-females compared to normal males, with 1 specific differential methylation site (16608174) distinguishing XY pseudo-females from normal females. Interestingly, the expression of these genes in the transcriptome showed no difference between wild-type females and XY pseudo-females. Our study concluded that methylation of the srd5a2 gene sequence leads to decreased expression, which inhibits testosterone synthesis while promoting the synthesis of 17β-estradiol from testosterone. This underscores the significance of the srd5a2 gene in the sexual differentiation of channel catfish, as indicated by the ipu00140 KEGG pathway analysis.

Integrative omics reveals clues as to why Cynoglossus semilaevis pseudomales produce no W sperm

Cynoglossus semilaevis (half-smooth tongue sole) is an important aquaculture species that has a ZW/ZZ sex-determination system (females, ZW; males, ZZ). Some genotypic females may develop phenotypic males, and are known as pseudomales (ZW). These pseudomales can develop mature testes and produce sperm. However, previous studies have shown that pseudomales cannot produce sperms bearing W chromosome (W sperm). In this study, transcriptomic, proteomic, and ubiquitinated proteomic analyses were employed simultaneously to investigate the differences in gonads between pseudomales and normal males. Functional enrichment analysis of the differentially expressed genes/proteins showed that non-coding RNA metabolic processes and RNA degradation were more active in the gonads of pseudomales, and they showed higher levels of ubiquitination compared to males. In addition, most genes/proteins related to sperm morphogenesis expressed downwards in pseudomales. These genes included genes located exclusively on the Z chromosome, such as sperm flagellar protein 2 (spef2), doublesex and mab-3 related transcription factor 1 (dmrt1), doublesex and mab-3 related transcription factor 3 (dmrt3), and cilia- and flagella-associated protein 157 (cfap157). These findings characterized the transcriptional and proteomic profiles of the gonads of pseudomales and males, and suggested that W sperm were absent in pseudomales, possibly due to the disruption of sperm morphogenesis, resulting from W chromosome lacking spermatogenesis-related genes.

Molecular cloning, identification, transcriptional analysis, and silencing of enolase on the life cycle of Haemaphysalis longicornis (Acari, Ixodidae) tick.

Ticks, blood-sucking ectoparasites, spread diseases to humans and animals. Haemaphysalis longicornis is a significant vector for tick-borne diseases in medical and veterinary contexts. Identifying protective antigens in H. longicornis for an anti-tick vaccine is a key tick control strategy. Enolase, a multifunctional protein, significantly converts D-2-phosphoglycerate and phosphoenolpyruvate in glycolysis and gluconeogenesis in cell cytoplasm. This study cloned a complete open reading frame (ORF) of enolase from the H. longicornis tick and characterized its transcriptional and silencing effect. We amplified the full-length cDNA of the enolase gene using rapid amplification of cDNA ends. The complete cDNA, with an ORF of 1,297 nucleotides, encoded a 432-amino acid polypeptide. Enolase of the Jeju strain H. longicornis exhibited the highest sequence similarity with H. flava (98%), followed by Dermacentor silvarum (82%). The enolase motifs identified included N-terminal and C-terminal regions, magnesium binding sites, and several phosphorylation sites. Reverse transcription-polymerase chain reaction (RT-PCR) analysis indicated that enolase mRNA transcripts were expressed across all developmental stages of ticks and organs such as salivary gland and midgut. RT-PCR showed higher transcript levels in syn-ganglia, suggesting that synganglion nerves influence enolase,s role in tick salivary glands. We injected enolase double-stranded RNA into adult unfed female ticks, after which they were subsequently fed with normal unfed males until they spontaneously dropped off. RNA interference significantly (P<0.05) reduced feeding and reproduction, along with abnormalities in eggs (no embryos) and hatching. These findings suggest enolase is a promising target for future tick control strategies.

Lamprey--an excellent model for iron metabolism.

After 500 million years of evolution, lamprey is in a natural environment characterized by low temperature and high iron content, and its unique adaptive evolution mode has developed its organizational structure and life mechanism in the process of metamorphosis, which provides a new direction for people to further study the origin and evolution of life. Iron is one of the essential nutrients for the human body and plays an important role in metabolic processes, but when exceeded, it can lead to iron toxicity. For example, the serum iron concentration of pre-metamorphosis larvae is 149 times that of normal males, and the iron content in the liver of juveniles is about 2-3 times that of normal humans. Lamprey has a complete biochemical system to tolerate high concentrations of free iron in the body, and high expression of important genes for iron homeostasis, such as transferrin, ferritin heavy chain, superoxide dismutase, etc., improves iron transport, iron storage and antioxidant capacity. Lamprey has an IRE/IRP regulatory system, which is an important protection mechanism for lamprey to adapt to the high iron content environment in the organization. In addition, lampreys gradually form oral glands during metamorphosis and development, which become the unique iron metabolism organs of lampreys. In this review, we mainly summarize the distribution of iron in various tissues of lamprey and the potential mechanism of adapting to the content of iron in the body, so as to provide a theoretical basis for the subsequent search for the molecular mechanism of iron metabolism.

Sexually dimorphic effects of pexidartinib on nerve injury-induced neuropathic pain in mice.

It is well-established that spinal microglia and peripheral macrophages play critical roles in the etiology of neuropathic pain; however, growing evidence suggests sex differences in pain hypersensitivity owing to microglia and macrophages. Therefore, it is crucial to understand sex- and androgen-dependent characteristics of pain-related myeloid cells in mice with nerve injury-induced neuropathic pain. To deplete microglia and macrophages, pexidartinib (PLX3397), an inhibitor of the colony-stimulating factor 1 receptor, was orally administered, and mice were subjected to partial sciatic nerve ligation (PSL). Following PSL induction, healthy male and female mice and male gonadectomized (GDX) mice exhibited similar levels of spinal microglial activation, peripheral macrophage accumulation, and mechanical allodynia. Treatment with PLX3397 significantly suppressed mechanical allodynia in normal males; this was not observed in female and GDX male mice. Sex- and androgen-dependent differences in the PLX3397-mediated preventive effects were observed on spinal microglia and dorsal root ganglia (DRG) macrophages, as well as in expression patterns of pain-related inflammatory mediators in these cells. Conversely, no sex- or androgen-dependent differences were detected in sciatic nerve macrophages, and inhibition of peripheral CC-chemokine receptor 5 prevented neuropathic pain in both sexes. Collectively, these findings demonstrate the presence of considerable sex- and androgen-dependent differences in the etiology of neuropathic pain in spinal microglia and DRG macrophages but not in sciatic nerve macrophages. Given that the mechanisms of neuropathic pain may differ among experimental models and clinical conditions, accumulating several lines of evidence is crucial to comprehensively clarifying the sex-dependent regulatory mechanisms of pain.

Studies on the response of normal and irradiated pink bollworm males towards pheromone source

Sterile Insect Technique (SIT) is the right eco-friendly method to overcome the pink bollworm Pectinophora gossypiella (Saunder) menace. In SIT attractiveness of released moths to their natural counterpart is most important as such this ability was examined in our study. For this, newly emerged five virgin female gamma irradiated with 0–250 Gy were used. These females were placed inside small plastic vial provided with aeration and suspended inside the delta traps by providing 10% honey solution. Traps were placed in the field during evening. Moth catches in each trap were counted and removed daily and these observations continued up to 5 days. In a same manner irradiated males were released separately inside the field cage to know its attractiveness to virgin female. The results indicated that attraction of male moths to irradiated virgin females decreased significantly with increasing doses of radiation i.e., at 200 and 250 Gy. The number of males captured per female was greatest on day 2nd due to its peak sexual activity, i.e., 25.60, 23.05, 19.45, 14, 9.4 and 5.9 moths at 0, 50, 100, 150, 150, 200, and 250 Gy, respectively. Gamma radiation also affected the irradiated males to find their natural mates at a higher dose; however, the maximum number of 5.30, 5.95 and 5.10 irradiated male moths were attracted to the natural pheromone secreted by female moths at 50, 100 and 150 Gy respectively, compared to the 6.80 moths at 0 Gy. The results on attractiveness of irradiated male moths towards virgin female-baited traps were considered a good measure of male competitiveness.

A Study on Deletion in Polymer Region of Amelogenin (Amel Y) Gene: Significant Importance in Sex Determination and Identification of Sexual Assault Perpetrator

AbstractAccurate gender determination is crucial in many scientific disciplines, especially in prenatal diagnosis of X‐linked diseases and forensic investigations. Today, molecular techniques, especially typing for a length variation in the X–Y homologous amelogenin gene (AMEL X and AMEL Y), are used for gender assignation. This amelogenin is an integral part of most PCR multiplex kits for gender determination marker, but in 1998 there was a report of two normal males being typed as female with this marker. Subsequently, a small number of males with amelogenin deleted genes have been reported in various populations but little data are available characterizing these deletions. This review aims to explore possible relationships among the AMEL Y deleted samples and Y‐chromosome microsatellite haplotypes. Also, attempts are made to determine the frequency of males with AMEL Y deleted gene in various countries across the globe. Although some studies have shown that males with AMEL Y deleted gene are extremely rare in most populations, typing an additional gender‐determining locus should be considered in forensic investigations where the reference sample is of unknown gender.

Expanding the phenotype of copy number variations involving NR0B1 (DAX1).

46,XY gonadal dysgenesis (GD) is a disorder of sex development due to incomplete gonadal differentiation into testes, resulting in female to ambiguous external genitalia. Duplications at the Xp21.2 locus involving the NR0B1 (DAX1) gene have previously been associated with 46,XY GD. More recently, a complex structural variant not directly involving NR0B1 has been reported in 46,XY GD illustrating that the mechanism of how copy number variants (CNVs) at Xp21.2 may cause 46,XY gonadal dysgenesis is not yet fully understood. Here, we report on three families in which a duplication involving the NR0B1 gene was detected in the context of prenatal screening. This is the first report of duplications involving NR0B1 in three phenotypically normal males in two families. Fertility problems were present in one adult male carrier. The data reported here from an unbiased screening population broaden the phenotype associated with CNVs involving NR0B1, and this may aid clinicians in counseling and decision making in the prenatal context.

46,XX males with SRY gene translocation: cytogenetics and molecular characterization

PurposeXX male syndrome also known as De la Chapelle syndrome/Testicular Disorder of Sex Development (DSD) is a rare genetic abnormality, identified by a partial or complete mismatch between phenotypic and genotypic gender of an individual. The present study describes the pertinent clinical, biochemical, cytogenetics, and molecular findings in four phenotypically normal males, presented with gonadal dysgenesis and hypergonadotrophic hypogonadism.MethodClinical characteristics and biochemical parameters in four patients were assessed. Further, chromosomal analysis has been performed using conventional karyotyping. FISH and Y chromosome microdeletion assays were carried out to confirm the presence of male-specific genes followed by microarray analysis.ResultChromosomal analysis revealed a 46,XX karyotype, FISH showed the presence of 2 normal X chromosomes along with translocation of the SRY gene on the short (p) arm of one of the X chromosome. Molecular analysis for Y chromosome microdeletion revealed the presence of the SRY gene with a complete absence of azoospermic factor regions (AZFa, AZFb, and AZFc) on the long (q) arm of the Y chromosome. Chromosomal microarray revealed no significant copy number variation.ConclusionsThe peculiar translocation of the SRY gene in 46,XX males strongly supports the inclusion of cytogenetic testing for establishing diagnosis and genetic counseling for infertility and/or hormonal imbalances in individuals. The present study provides insight into the cascade of events triggered by the SRY gene in the XX genome, which reinforces the differentiation towards the formation of testes while actively inhibiting ovarian development.

Study of peak expiratory flow rate in male and female young adults with respect to their weight status

Background: Young adults are more attracted toward fast food, alcohol, and sedentary lifestyles. Previous study shows that peak expiratory flow rate (PEFR) correlates better with height in males and weight in females. Body mass index (BMI) is one of the main factor that affect PEFR values. PEFR, a pulmonary function test is routinely used to confirm the diagnosis of the respiratory disease. Aim and Objectives: This study was conducted to evaluate PEFR values in male and female young adults in underweight, normal, overweight, and obese categories of weight status. Materials and Methods: The study was conducted in four groups. 40 participants in each group, includes males (20) and female (20) young adults. The groups were divided according to BMI values, underweight (<18.5), normal (18.5–24.9), overweight (25–29.9), and obese (>30). Data were taken and calculated 2 h post lunch after relaxing for 15 min in the afternoon. In the sitting position, at the same time of the day, PEFR values were measured using Wright’s Peak Flow Meter. Results: We found significantly high PEFR values in males as compare to females in the category of underweight (<0.01), normal (<0.05) and overweight (<0.05). The study also shows positive correlation between BMI and PEFR in underweight male and females, normal males, overweight females, and obese females, which is statistically non-significant, except in obese males. Conclusion: We concluded that male have high PEFR values than female as there are differences in their body build-up and low PEFR values in underweight and obese young adults as they have low body fat and reduced expansion of lungs, respectively.

Production of neofemale by 17β-estradiol and YY super-male breeding in mandarin fish (Siniperca chuatsi)

It is well known that mono-sex culture has the advantages of a more rapid growth rate, more uniform size and lower energy consumption of gonadal development in fish. In production practice, male mandarin fish (Siniperca chuatsi) show great aquaculture value after the overwintering stage. As a species with an XY-type sex determination system, feminizing genetically male fish into physiological female fish and breeding YY supermales is a common method used to produce all-male populations. In this study, we systematically investigated feminization of mandarin fish by indirect feeding of 17β-estradiol (E2) at different doses (200, 400 and 600 mg/kg). Neo-females were successfully yielded in all E2-treated concentrations. The sex-reversed ratios of the 200, 400 and 600 mg/kg E2-treated groups were 40%, 87% and 100%, respectively. From 45 to 135 dat (days after treatment), the gonads in the 600 mg/kg E2-treated group consisted of oogonium and previtellogenic oocytes. At 165 dat, early vitellogenic oocytes were observed in the gonads of the 600 mg/kg E2-treated group. Regarding the expression of sex-related genes, 600 mg/kg E2-treated mandarin fish presented a different gene expression pattern from that of normal males. Moreover, the growth and development status were also analysed in XY normal males and YY supermales at 360 dph, and YY supermales showed a higher number of lumina and significantly lower growth performance than XY normal males. In conclusion, we have established a technique for efficiently inducing male to female sex reversion and YY supermale breeding of mandarin fish, which provides a great foundation for the production of all-male mandarin fish.

FERTILITY FACTORS. D-HORMONE IN PREVENTION OF REPRODUCOPATHIES CAUSED BY BENIGN PROSTATIC HYPERPLASIA (Literature review)

In accordance with the statistical data, the spreading of benign prostatic hyperplasia (BPH) is increasing, because modern stressful lifestyle causes sex hormones disbalances and other dyshormonal conditions which lead to pathologies’ development at younger ages. The pathogenesis of BPH is connected with disturbances of regulation in the hypothalamo-hypophyseal system and with the changes of the regulatory signals intensity which go to the reproductive organs. The central pathogenic links of this pathology’ development are: the declining of efficacy of hypothalamus functioning regulation which carries out on the basis of feedback; the changes of the pituitary gland cells sensitivity to the releasing hormones of hypothalamus and disbalance of sex hormones. In addition to gonadotropins prolactin has a significant impact on the BPH development. Its hypersecretion causes the development of hyperplastic age-related changes in prostate gland. The introduction of dopamine receptors antagonists such as sulpiride causes the increasing of prolactin concentration and declining of gonadotropins releasing. “Sulpiride model” is broadly used in the experimental endocrinology for studying prostate-active drugs and is characterized by sex hormones disbalance' and inflammation processes’ development. The development of the pathology is linked with the disturbance of testosterone synthesis in the testicles, insufficiency of prostate gland functioning and increasing of prolactin and estradiol concentrations which provoke proliferative changes. The androgens disbalance is the main cause of BHP development, therefore, the “Testosterone model” based on testosterone’ and estradiol’ slow releasing implants is broadly used for modeling of urination disturbance in rats which imitates the same condition in elderly men with benign prostatic hyperplasia. The prostatitis, which developed under the condition of BHP, causes the disturbances of spermatogenesis during experimental modeling and in the clinical practice when spermatopathies, sexual disturbances and hypofertility are diagnosed in patients. The traditional BHP therapeutic methods are not always effective and the new therapeutic approaches of hypofertility caused by prostate gland pathologies are developed by investigators. Thus, there are data about correlation between increased vitamin D consumption and decreasing of BHP spreading, between gland volume and cells proliferation in patients with this pathology. Vitamin D level influences the quantity and quality of ejaculate. The deficiency of vitamin D is associated with lower proportion of sex hormones in young men and choriogonin sensitivity of Leydig's cells to be diminished. It has been experimentally shown that cholecalciferol regulates steroid hormones genesis, mitigates the age-related declining of testicles activity, protects the testicles in old animals and the unchanged spermatogenesis in normal males which received vitamin D3 can be considered to be the result of estrogens and androgens balance. The androgens receptors as well as vitamin D receptors have been found in prostate gland in health males and in those with hyperplasia. In addition to its classical function in calcium homeostasis and bones health, vitamin D inhibits tumor growth in different tissues including prostate gland. Vitamin D metabolites have been determined to be anti-inflammatory, proapoptotic and antiproliferative. D-hormone application potentiates the specific properties of prostate gland protectors, recovers reproductive capacity under the condition of experimental chronic prostatitis of inflammatory genesis as well as traumatic. All facts listed above allow to confirm the positive role of D-hormone in the regulation of prostate gland and reproductive function in patients with BHP and recovering of fertility under the condition of this pathology. The literature search for this review has been carried out on databases PubMed, Science Direct, Europa PMC, BMC, MedLine etc.