Timing matters: diurnal variation of maximal fat oxidation and substrate oxidation rates in metabolic syndrome-a randomized crossover study.

PURPOSE: The aim of this study was to investigate if diurnal oscillation in maximal fat oxidation (MFO) and substrate oxidation rates during exercise exists in subjects with metabolic syndrome (MetS). METHODS: In a randomized crossover design, 14 MetS patients were assigned to two graded exercise tests conditions performed in the morning (between 7:00 and 9:00 a.m) and in the afternoon (between 4:00 and 5:00 p.m). MFO was defined as the highest absolute value of fat oxidation obtained from the average of last 2-min stages during an indirect calorimetry test. RESULTS: MFO increased by 20.6% from morning to afternoon (p = 0.0002, Cohen's d = 0.52). There was a significant time of day, (p < 0.0001, η2p = 0.76) and intensity effect (p = 0.002, η2p = 0.32) in fat oxidation (Fatox) rates indicating that Fatox was higher in the afternoon than in the morning. CONCLUSION: Our study extends previous findings on the existence of diurnal variation in maximal fat oxidation to MetS patients, highlighting the afternoon as a more favorable time for fat utilization during exercise. These findings have practical implications for optimizing training timing in MetS patients. TRIAL REGISTRATION NUMBER: PACTR202306776991260.

Plasma Lipid Profiling Identifies Phosphatidylcholine 34:3 and Triglyceride 52:3 as Potential Markers Associated with Disease Severity and Oxidative Status in Chronic Obstructive Pulmonary Disease.

PURPOSE: To identify plasma alterations in lipid species in patients with chronic obstructive pulmonary disease (COPD), as well as, relationships with smoking status, oxidative and inflammatory markers. METHODS: Plasma was obtained from 100 patients with COPD and 120 healthy controls. Pulmonary function was assessed by plethysmography. Serum levels of IL-6 and TNF-α were determined by ELISA. Oxidative stress parameters were measured using standard methods. Lipids were extracted then analyzed by Matrix-Assisted Laser Desorption and Ionization Time-Of-Flight Mass Spectrometry (MALDI-TOF-TOF-MS). RESULTS: More than 40 lipid compounds were identified within plasma samples. Among these 19 lipid species including plasmalogens (PC O-), phosphatidylcholines (PC), and triglycerides (TG) were significantly altered in COPD. A decreased expression of PC O- (36:1, 36:2, 36:3, 36:4, 38:4, 38:5) species was found in patients with different severities compared to healthy controls. There was also a decrease in PC (34:3, 36:0, 36:4, 36:5, 40:6, 40:7) species in COPD patients. PC (34:3) levels were positively correlated with disease progression and pulmonary function decline (forced expiratory volume in 1 s (FEV1)) (r = 0.84, p < 0.001) and inversely correlated with thiobarbituric acid-reactive substances (TBARS) (r = - 0.77, p < 0.001). TG (50:0, 50:1, 52:1, 52:2, 52:3, 52:4, 54:4) species were altered in COPD patients and in those with advanced disease stages. Significant correlations between FEV1, TBARS, peroxynitrite, and TG (52:3) were found among COPD patients (r = - 0.69; r = 0.86; r = 0.77, p < 0.001, respectively). CONCLUSION: PC (34:3) and TG (52:3) could be potential lipid signatures of COPD that correlate with altered pulmonary function and oxidative status.

Reduced forced vital capacity is independently associated with, aging, height and a poor socioeconomic status: a report from the Tunisian population-based BOLD study.

BACKGROUND: Reduced forced vital capacity (FVC) is a risk factor of all-cause mortality; however, the prevalence and determinants of reduced FVC are not available for the Tunisian population. This study investigated the association of reduced FVC with risk factors and health variables in an urban population of subjects aged ≥ 40 years and living in the city of Sousse in Tunisia. METHODS: A cross-sectional survey was performed using data from the Tunisian Burden of Obstructive Lung Disease (BOLD) study. We defined reduced FVC as a post-bronchodilator FVC below the lower limit of normal using National Health and Nutrition Examination Survey (NHANES) values and Global Lung Function Initiative 2012 equations (GLI 2012) and determined the relation between this finding and the potential risk factors (demographic and socioeconomic factors and the presence of chronic diseases), using multivariable regression analysis. RESULTS: The prevalence of reduced FVC was 26.6% (176/661) when using NHANES values for white Americans and 14.2% (94/661) using the GLI 2012 equations. Compared to people with normal FVC, those with a reduced FVC were significantly older, taller, had a lower body mass index (BMI), more respiratory symptoms and a higher prevalence of heart disease and hypertension. Multivariable analysis showed that reduced FVC was essentially driven by exposure to biomass smoke for heating, a number of schooling years lower than or equal to 6 years, a childhood history of hunger for a lack of money, aging and height. CONCLUSIONS: The prevalence of reduced FVC is associated with a poor socioeconomic status aging and height.

Volleyball and Basketball Enhanced Bone Mass in Prepubescent Boys.

The aim of this study was to examine the effect of volleyball and basketball practice on bone acquisition and to determine which of these 2 high-impact sports is more osteogenic in prepubertal period. We investigated 170 boys (aged 10-12 yr, Tanner stage I): 50 volleyball players (VB), 50 basketball players (BB), and 70 controls. Bone mineral content (BMC, g) and bone area (BA, cm(2)) were measured by dual-energy X-ray absorptiometry at different sites. We found that, both VB and BB have a higher BMC at whole body and most weight-bearing and nonweight-bearing sites than controls, except the BMC in head which was lower in VB and BB than controls. Moreover, only VB exhibited greater BMC in right and left ultra-distal radius than controls. No significant differences were observed between the 3 groups in lumbar spine, femoral neck, and left third D radius BMC. Athletes also exhibited a higher BA in whole body, limbs, lumbar spine, and femoral region than controls. In addition, they have a similar BA in head and left third D radius with controls. The VB exhibited a greater BA in most radius region than controls and a greater femoral neck BA than BB. A significant positive correlation was reported between total lean mass and both BMC and BA in whole body, lumbar spine, total hip, and right whole radius among VB and BB. In summary, we suggest that volleyball and basketball have an osteogenic effect BMC and BA in loaded sites in prepubescent boys. The increased bone mass induced by both volleyball and basketball training in the stressed sites was associated to a decreased skull BMC. Moreover, volleyball practice produces a more sensitive mechanical stress in loaded bones than basketball. This effect seems translated by femoral neck expansion.

The A allele of cluster of differentiation 36 (CD36) SNP 1761667 associates with decreased lipid taste perception in obese Tunisian women.

Recent studies have suggested that excessive intake of dietary fat is associated with obesity. Some obese subjects have been reported to exhibit high thresholds for the gustatory detection of lipids via lipid receptors, such as cluster of differentiation 36 (CD36). We studied lingual detection thresholds for emulsions containing oleic acid in obese Tunisian women (n 203) using a three-alternative forced choice (3-AFC) method. Genotyping of the TNF-α (rs1800629), IL-6 (rs1800795) and CD36 (rs1761667) genes was performed to associate with lipid taste perception thresholds. The CD36 genotype distribution was as follows: GG (n 42), AG (n 102) and AA (n 59). Women with the CD36 GG genotype exhibited oral detection thresholds for oleic acid that were more than three times lower than those with the CD36 AA genotype. The present study confirms a high threshold of gustatory fat detection in obese women with the CD36 AA genotype, but there is no significant association with the IL-6 and TNF-α gene polymorphisms.

Development of a Noncontact Kickboxing Circuit Training Protocol That Simulates Elite Male Kickboxing Competition.

The aim of this study was to verify whether the specific kickboxing circuit training protocol (SKCTP) could reproduce kickboxing combat's hormonal, physiological, and physical responses. Twenty athletes of regional and national level volunteered to participate in the study (mean ± SD, age: 21.3 ± 2.7 years; height: 170 ± 0.5 cm; body mass: 73.9 ± 13.9 kg). After familiarization, SKCTP was conducted 1 week before a kickboxing competition. Cortisol, testosterone, growth hormone (GH), blood lactate [La], and glucose concentrations, as well as the Wingate upper-body test and countermovement jump (CMJ) performances were measured before and after SKCTP and combat. Heart rate (HR) and rating of perceived exertion (RPE) were measured throughout rounds (R) R1, R2, and R3. Testosterone, GH, glucose, [La], HR, RPE, and CMJ did not differ among the 2 conditions (p > 0.05). However, Cortisol was higher for competition (p = 0.038), whereas both peak (p = 0.003) and mean power (p < 0.001) were higher in SKCTP. The study suggests that SKCTP replicates the hormonal, physiological, and physical aspects of competition. It is therefore suggested as a good form of specific kickboxing training, as well as a specific assessment tool to be used by kickboxing coaches to quantify kickboxers' fitness levels, when physiological parameters responses to the test are measured.

Enhanced bone mass and physical fitness in prepubescent basketball players.

The aim of this study was to examine the effect of basketball practice on bone acquisition in the prepubertal age. In total, 48 prepubescent male basketball players aged 11.1 ± 0.8 yr, Tanner stage 1, were compared with 50 controls matched for age and pubertal stage. Areal bone mineral density, bone mineral content (BMC), and bone area (BA) in deferent sites associated with anthropometric parameters were measured by dual-energy X-ray absorptiometry. Running and jumping tests were performed. Analysis of Student's impaired t-test revealed that basketball players attained better results in all physical fitness tests (p < 0.05). They also exhibited significantly greater BMC and BA in whole body, upper and lower extremities, trochanter, total hip, and whole right and left radius (p < 0.001) compared with the controls. No significant differences were observed between groups in right and left ultradistal and third distal radius and spinal regions, BMC, and BA, whereas a significant positive correlation was reported between lean mass, BMC, and BA of lower limbs. In summary, basketball practice in prepubertal age is associated with improved physical fitness and enhanced lean and bone mass in loaded sites.

Six months training alone or combined with diet alters HOMA-AD, HOMA-IR and plasma and adipose tissue adiponectin in obese women.

OBJECTIVE: We investigate the effect of 6 months aerobic training alone or in combination with diet on adiponectin in circulation and in adipose abdominal tissue (AT) in obese women. METHODS: Twenty obese subjects were randomized into a 24 weeks intervention: 1) training (TR) and 2) training and diet (TRD). Blood samples were collected at baseline, after 12 wk and 24 wk. AT biopsies were obtained only at baseline and after 24 wk. RESULTS: In the TRD group the fat loss was after 12 wk -13.74% (p<0.01) and after 24 wk -21.82% (p<0.01) with no changes in the TR group. After 12 and 24 wk, VO2max was increased by 21.81-39.54% (p<0.05) in the TRD group and 18.09-40.95% in the TR group (p<0.05). After 12 wk, plasma adiponectin was raised only in the TRD group (55.8%, p<0.05). After 24 weeks, circulating adiponectin was elevated by 110.4% (p<0.01) in the TRD group and by 27% (p<0.05) in the TR group. In AT biopsies, subjects in the TRD and TR groups exhibited a significant increase in adiponectin (p<0.05 and p<0.01, respectively). The two indices HOMA-IR and HOMA-AD for assessing insulin resistance were strongly affected by protocols. HOMA-IR decreased (p<0.05) only after 24 wk in the TRD group. HOMA-AD increased in both groups after 12 (p<0.05) and 24 wk (p<0.01). CONCLUSION: Six months chronic aerobic exercise alone or combined with diet result in a significant increase in circulating and adipose tissue adiponectin levels in obese women independent of changes in body composition and/or in HOMA-IR.

Placental infiltration of inflammatory markers in gestational diabetic women.

Gestational diabetes mellitus (GDM) is pathology of glucose intolerance during pregnancy. It is influenced by maternal hyperglycemia and insulinemia through placental circulation. The study was undertaken to investigate the implication of pro-inflammatory factors in the placenta of GDM women. Thirty GDM women have delivered macrosomic babies, and 30 healthy age-matched pregnant women have delivered non macrosomic babies, were recruited in the study. The mRNAs encoding for IL-6, TLR4, TGF-ß, CD68, CD14, EMR-1, CCL2, TCR-α, T-bet, GATA-3, leptin and adiponectin were quantified in placental samples by using RT-qPCR. The mRNA expression of the pro-inflammatory factors, i.e., IL-6, TLR4 and TGF-ß, was increased in GDM placenta. The mRNA expression of markers of infiltration of macrophage, i.e., CD68, CD14 and EMR-1, was higher in the GDM placenta than the control placenta. The expression of mRNA of TCR-α, an indicator of T-cell infiltration, was significantly higher in the GDM placenta. Interestingly, the expression of mRNA of GATA-3, an indicator of Th2 phenotype differentiation, was unregulated in the GDM placenta. Leptin and adiponectin mRNAs were also significantly increased in the placenta of the GDM group. Our results revealed that there is an increase of inflammation in the GDM placenta which might be involved, in part, in the pathogenesis of macrosomia.

Short-term lower-body plyometric training improves whole body BMC, bone metabolic markers, and physical fitness in early pubertal male basketball players.

The effects of a 9-week lower-body plyometric training program on bone mass, bone markers and physical fitness was examined in 51 early pubertal male basketball players divided randomly into a plyometric group (PG: 25 participants) and a control group (CG: 26 participants). Areal bone mineral density (aBMD), bone mineral content (BMC), and bone area (BA) in the whole body, L2-L4 vertebrae, and in total hip, serum levels of osteocalcin (Oc) and C-terminal telopeptide fragment of Type I collagen (CTx), jump, sprint and power abilities were assessed at baseline and 9 weeks. Group comparisons were done by independent student's t-test between means and analyses of (ANOVA) and covariance (ANCOVA), adjusting for baseline values. PG experienced a significant increase in Oc (p < .01) and all physical fitness except for the 5-jump test. However, there was no improvement in aBMD, BMC and BA in any measured site, except in whole body BMC of the PG. A positive correlation was observed between percentage increase (Δ%) of physical fitness and those of (Oc) for the PG. In summary, biweekly sessions of lower body plyometric training program were successful for improving whole body BMC, bone formation marker (Oc) and physical fitness in early pubertal male basketball players.

Effect of rehabilitation program on endocrinological parameters in patients with COPD and in healthy subjects.

BACKGROUND: Skeletal muscle wasting commonly occurs in patients with chronic obstructive pulmonary disease (COPD) and has been associated with the presence of systemic inflammation and endocrinological disturbance. The aim of this study is to analyze the effect of rehabilitation program on the balance of anabolic versus catabolic hormone in patients with COPD and in healthy subjects. METHODS: Nineteen patients with COPD and 16 age-matched healthy subjects undertooked exercise training 3 days/week for 8 weeks. Before and after the training program the concentration of growth hormone (GH), Insulin-Like Growth Factor-1 (IGF-1), Insulin-like Growth Factor-Binding Protein 3 (IGF-BP3), testosterone and cortisol in serum were determined. The exercise measurements included a 6-Minute Walking Test (6MWT). RESULTS: After 8 weeks, there was no significant change in lung function in patients with COPD and healthy subjects. Growth hormone, Insulin-like Growth Factor-1 and Insulin-like Growth Factor-Binding Protein 3 increased significantly after rehabilitation training (p < 0.01). The rehabilitation program improves the testosterone/cortisol ratio (T/C ratio) in both groups. There is a significant improvement in the 6-Minute Walking distance (6MWD) in both groups (p < 0.01). Dyspnea and heart rate at rest and at the peak of the 6-Minute Walking Test (6MWT) decreased significantly after training program (p < 0.01). CONCLUSION: Pulmonary rehabilitation induces an improvement of the anabolic process and reduces proteine distruction by the modifications in endocrinological factors regulating skeletal muscle in patients with COPD.

Correction: Volleyball practice increases bone mass in prepubescent boys during growth: A 1-yr longitudinal study.

[This corrects the article DOI: 10.1371/journal.pone.0266257.].

Reference Values of Physical Performance in Handball Players Aged 13-19 Years: Taking into Account Their Biological Maturity.

Biological maturity status significantly influences success in handball, impacting an athlete's performance and overall development. This study aimed to examine the anthropometric and physical performance variables concerning age and maturity status, establishing reference values for physical performance among Tunisian players. A total of 560 handball players (309 males and 251 females aged 13-19 years) were categorized based on maturity status: early (n = 98), average (n = 262), and late (n = 200), determined through Mirwald and colleagues' equations. Anthropometric, physical fitness, and physiological data were collected for reference value creation. Our findings revealed significantly higher anthropometric parameters (p = 0.003) in late-maturing athletes compared to their early-maturing counterparts. Post-pubertal athletes showed significantly superior (p = 0.002) jumping ability, change of direction, and aerobic performance compared to their pre-pubertal peers. Additionally, male athletes outperformed females in both fitness (p = 0.001) and aerobic (p = 0.001) performance. A notable age-by-maturity interaction emerged for most performance outcomes (η2 ranging from 0.011 to 0.084), highlighting increased sex-specific differences as athletes progressed in age. Percentile values are provided for males and females, offering valuable insights for coaches and sports scientists to design personalized training programs. Understanding a player's performance relative to these percentiles allows trainers to tailor workouts, addressing specific strengths and weaknesses for enhanced development and competitiveness.

Explaining Long COVID: A Pioneer Cross-Sectional Study Supporting the Endocrine Hypothesis.

Context: In some patients, symptoms may persist after COVID-19, defined as long COVID. Its pathogenesis is still debated and many hypotheses have been raised. Objective: Our primary objective was to evaluate the corticotroph and somatotroph functions of patients previously infected with SARS-CoV-2 and experiencing post-COVID-19 syndrome to detect any deficiencies that may explain long COVID. Methods: A cross-sectional study was conducted including patients who had previously contracted SARS-CoV-2 with a postinfection period of 3 months or less to 15 months, divided into 2 groups. The first group (G1) comprised fully recovered patients, while the second group (G2) included patients experiencing long COVID. The primary outcome was the comparison of corticotroph and somatotroph functions. Results: A total of 64 patients were divided into 2 groups, each consisting of 32 patients. G2 exhibited more frequently anterior pituitary deficits compared to G1 (P = .045): for the corticotroph axis (G1: 6.3% vs G2: 28.1%) and for the somatotroph axis (G1: 31.3% vs G2: 59.4%). Baseline cortisol level was significantly lower in G2 (G1: 13.37 µg/dL vs G2: 11.59 µg/dL) (P = .045). The peak cortisol level was also lower in G2 (G1: 23.60 µg/dL vs G2: 19.14 µg/dL) (P = .01). For the somatotroph axis, the insulin growth factor-1 level was lower in G2 (G1: 146.03 ng/mL vs G2: 132.25 ng/mL) (P = .369). The peak growth hormone level was also lower in G2 (G1: 4.82 ng/mL vs G2: 2.89 ng/mL) (P = .041). Conclusion: The results showed that long COVID patients in our cohort were more likely to have anterior pituitary deficiencies. The endocrine hypothesis involving anterior pituitary insufficiency can be considered to explain long COVID.

Inflammation and impaired endothelium-dependant vasodilatation in non obese women with gestational diabetes mellitus: preliminary results.

BACKGROUND: To evaluate whether abnormal endothelial function, a common finding in gestational diabetes mellitus (GDM) pregnancies, can be explained by inflammatory cytokines. METHODS: Forearm skin blood flow (FSBF), into response to acetylcholine (Ach) (endothelium-dependent vasodilatation), were measured in 24 pregnant control subjects and 28 gestational diabetes mellitus (GDM) women, in the third trimester of gestation. A fasting glycemic and lipidic panel was obtained, and inflammatory cytokines (TNF-α and IL-6) and adiponectin were also determined. RESULTS: FSBF is significantly reduced in GDM group compared with control subjects (344.59 ± 57.791 vs.176.38 ± 108.52, P < 0.05). Among all subjects, FSBF showed a strong negative correlation with TNF-α and IL-6 (r = -0.426, P < 0.0001 and r = -0.564, P < 0.0001, respectively) and positive correlation with adiponectin (r = 0.468, P < 0.0001). CONCLUSIONS: Endothelial function, an early marker of macrovascular disease, is present in non-obese pregnancies complicated by GDM. This alteration seems to be directly related to inflammatory status, which may represent a patho-physiological link between GDM and type 2 diabetes and, later on, metabolic syndrome.

Effects of intense cycling training on plasma leptin and adiponectin and its relation to insulin resistance.

OBJECTIVE: Adiponectin, the most abundant protein secreted by white adipose tissue, is known for its involvement in insulin resistance (HOMA-R). The purpose of this investigation was to assess the effect of intense cycling training for six months on plasma concentrations of adiponectin and leptin and HOMA-R. METHODS: Eight trained males non professional cyclists participated in this study. They completed two times maximal exercises separated by six months heavy cycling training. Blood samples were obtained before exercise, at the end and after 30 and 60 minutes of recovery. RESULTS: Before training, adiponectin concentrations were not significantly altered after maximal exercise, but plasma leptin levels decreased significantly at the end of exercise (-21.42%, p<0.01) and after 60 min of recovery (-21.18%, p<0.05). After 6 months training, subjects exhibited a decreased in control leptin concentrations (-44.91%, p<0.05) and in HOMA-R (-30.68%, p<0.05) and showed delayed increase in adiponectin concentrations (after 30 min of recovery) (14.10%, p<0.01). CONCLUSIONS: Our results showed that adiponectin is sensitive to maximal exercise when realised after intense training and that six months heavy cycling training don't affect adiponectin concentrations, but decreases the synthesis of leptin and HOMA-R and improves aerobic capacity. Furthermore, it appears that after 6 months heavy chronic exercise adiponectin is not associated with aerobic capacity and/or insulin resistance and/or body composition modifications.

Effect of Pre-Meal Metformin With or Without an Acute Exercise Bout on Postprandial Lipemic and Glycemic Responses in Metabolic Syndrome Patients: A Randomized, Open Label, Crossover Study.

INTRODUCTION: Both exercise and pre-meal metformin could lower postprandial glucose and lipid profiles. AIMS: To explore whether pre-meal metformin administration is superior to metformin administration with the meal in reducing postprandial lipid and glucose metabolism, and whether its combination with exercise confer superior benefits in metabolic syndrome patients. MATERIALS AND METHODS: In a randomized crossover design, 15 metabolic syndrome patients were assigned to 6 sequences including 3 experimental conditions: metformin administration with a test meal (met-meal), metformin administration 30 min prior to a test meal (pre-meal-met) with or without an exercise bout designed to expend 700 Kcal at 60% VO2 peak performed the evening just before pre-meal-met condition. Only 13 participants (3 males, 10 females; age: 46 ± 9.86, HbA1c: 6.23 ± 0.36) were included in the final analysis. RESULTS: Postprandial triglyceridemia was unaffected by any condition (all P > .05). However, both pre-meal-met (-7.1%, P = .009) and pre-meal-metx (-8.2%, P = .013) significantly reduced total cholesterol AUC with no significant differences between the two latter condition (P = .616). Similarly, LDL-cholesterol levels were significantly lower during both pre-meal-met (-10.1%, P = .013) and pre-meal-metx (-10.7%, P = .021) compared to met-meal with no difference between latter conditions (P = .822). Plasma glucose AUC was significantly reduced by pre-meal-metx compared to both pre-meal-met (-7.5%, P = .045) and met-meal (-8%, P = .03). Insulin AUC was significantly lower during pre-meal-metx compared to met-meal (-36.4%, P = .044). CONCLUSIONS: Metformin administration 30 minutes prior to meal seems to exert favorable effects on postprandial TC and LDL-Cholesterol levels compared to its administration with meal. Addition of one exercise bout only improved postprandial glycemia and insulinemia. TRIAL REGISTRY: Pan African clinical trial registry, Identifier PACTR202203690920424.

Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis

Objective: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is a subset of DSD which covers a wide range of phenotypes in which 46,XY gonadal dysgenesis (GD) is the most severe form. In this study, we report on the clinical and molecular cytogenetic findings of a study on a Tunisian girl with the syndromic form of 46,XY DSD. Methods: This case was a phenotypic female patient having several congenital anomalies including growth retardation. Karyotype, fluorescence in situ hybridization and array Comparative Genome Hybridization (array CGH) were performed. Results: The proband exhibited a de-novo 46,X,der(Y) karyotype. Array CGH revealed a pathogenic 27.5Mb gain of an Xp21.2 chromosome segment leading to Xp functional disomy. No deletion was observed in the Y-chromosome. The duplicated region encompassed the NR0B1 (DAX1) and MAGEB genes, located within the dosage sensitive sex (DSS) reversal locus, known as promote genes responsible for human sex reversal and testis repression. The extra-dosage and interactions of these genes with different specific genes could result in the impairment of the male sex pathway. Over-dosage of KAL1 and IL1RAPL1 genes fall within the somatic features observed in the patient. Conclusion: To the best of our knowledge, we report on the fourth case of Xp21.2-pter duplication within Xp;Yp translocation associated with XY GD. Our findings suggest that when duplicated, the NR0B1 and MAGEB genes could be a major cause of XY GD. Therefore, we emphasize the usefulness of a combined cytogenetic approach in order to provide an accurate genetic diagnosis for those patients having syndromic XY DSD in a clinical setting.

Effect of intrauterine administration of human chorionic gonadotropin one day before fresh blastocyst transfer on clinical outcomes: a quasi-experimental study.

Introduction: embryo implantation is a crucial step for assisted reproductive technology (ART) achievement. Human chorionic gonadotropin (hCG) is one of the main regulators of the implantation process. Studies focusing on the impact of intrauterine hCG infusion at the time of embryo transfer on clinical ART outcomes have shown controversial results, mainly at blastocyst stage. In this study, we aimed to investigate whether intrauterine hCG infusion one day before human blastocyst transfer in fresh invitro fertilization (IVF) cycles enhances implantation and pregnancy rates. Methods: a total of 174 subfertile women undergoing autologous fresh blastocyst transfer were enrolled in this randomized prospective study. Patients were randomly divided into three groups; group 1 (n = 54) and group 2 (n = 59) received an intrauterine injection of respectively 500 IU and 1000 IU of hCG one day before blastocyst transfer and the control group (n= 61) did not receive any intrauterine injection. The pregnancy and implantation rates were compared between the three study groups. Results: significant difference was found between the study groups. The bio chemical pregnancy rates were 25.9%, 30.5% and 29.5%, the clinical pregnancy rates were 24.1%, 27.1% and 27.9% and the implantation rates were 14.9%, 17.9% and 18.7% respectively in group 1,2 and control group. Conclusion: our results have shown that clinical outcomes in fresh IVF cycles cannot be improved through intrauterine hCG administration one day prior to blastocyst transfer, neither with 500 IU of hCG nor with a higher dose of 1000 IU of hCG.

Volleyball practice increases bone mass in prepubescent boys during growth: A 1-yr longitudinal study.

The aim of this longitudinal study was to examine the effects of 1-yr of volleyball practice on the bone mass development in the growing skeleton among prepubescent children. Twenty volleyball players and nine teen matched control boys (Tanner stage 1, at the start of the study) were followed over a 1-yr period. Bone mineral density (BMD, g/cm2), bone mineral content (BMC, g) were measured by dual-energy X-ray absorptiometry on the whole body, lumbar spine (L2-L4), legs, arms, femoral necks, hips and radii. At follow-up, in comparison with controls, volleyball players gained more BMD in whole body (4.5% vs 1.7%; p = 0.014), both nondominant and dominant arms (5.8% vs 1.1% p = 0.005, and 6% vs 2.1%; p = 0.003, respectively), both nondmoninat and dominant legs (9% vs 4.8%; p = 0.005 and 10.7% vs 6% p = 0.0025; respectively), dominant ultradistal radius (10.4% vs 0.9%; p = 0.005), dominant third distal radius (9.6% vs 3.71%; p = 0.023), dominant whole radius (7.4% vs 3.1%; p = 0.017), lumbar spine L2-L4 (9.9% vs 2.8%; p = 0.004), femoral neck (4.7% vs 1.6%; p = 0.034), trochanter (6% vs 1.5%; p<0.001) and total hip (6.1% vs 2.6%; p = 0.006). Volleyball players gained more BMC in both nondominant and dominant arms (25.1% vs 13.4%; p = 0.003, and 26.1% vs 15.6%; p<0.001 respectively), both nondominant and dominant legs (20.2% vs 14.5%; p = 0.004 and 23% vs 16%; p = 0.004, respectively), dominant ultradistal radius (22.4% vs 8.7%; p = 0.002), dominant third distal radius (20.9% vs 5.9%; p = 0.001), dominant whole radius (20% vs 13%), nondominant third distal radius (14.5% vs 5.9%; p = 0.001), nondominant whole radius (21.1% vs 12%; p = 0.002), lumbar spine L2-L4 (21.1% vs 13.7%; p = 0.007), femoral neck (25.9% vs 8.7%; p = 0.007), trochanter (23.5% vs 17.1%; p = 0.006), and total hip (16.3% vs 11.3%; p = 0.009) than controls. A close correlation was observed between the increment (Δ) of whole body lean mass and increased (Δ) BMD and BMC in whole body (r = 0.43, p<0.01, r = 0.73, p<0.001; respectively), lumbar spine (r = 0.54, r = 0.61, p<0.001; respectively), trochanter (r = 0.46, p<0.01, r = 0.35, p<0.05; respectively), and total hip (r = 0.53, p<0.01, r = 0.6, p<0.0001; respectively). In summary, 1-yr of volleyball practice has an osteogenic effect on bone mass in loaded sites in prepubescent boys.