Association of diet and lifestyle factors with semen quality in male partners of Chinese couples preparing for pregnancy.

BACKGROUND: Semen quality significantly influences conception, and its preservation is crucial for couples seeking pregnancy. We investigated dietary and lifestyle risk factors impacting semen quality. METHODS: A total of 466 males from the Guangzhou Women and Children's Medical Center's pre-pregnancy consultation clinic were recruited between January 2021 and March 2023 for inclusion. Semen analysis was performed, and diet and lifestyle data were gathered via questionnaire. Logistic regression was utilized to examine the link between diet, lifestyle variables, and semen quality. RESULTS: Smoking worsened progressive sperm motility (38.0% vs. 36.0%, t = 2.262; P = 0.049). Alcohol consumption impaired progressive motility (40.5 ± 17.8% vs. 34.7 ± 16.1%, t = 3.396; P < 0.001) and total motility (56.0% vs. 64.0%; P = 0.001). Using plastic beverage bottles for oil or seasonings lowered sperm concentrations (40.4% vs. 59.0% vs. 65.5%; P = 0.032). A sweet diet correlated with higher total sperm motility (55.0% vs. 60.0%, 62.0% vs. 63.2%; P = 0.017). Higher milk product intake improved sperm concentration (41.6106 vs. 63.7106 vs. 66.1*106; P = 0.021) and motility (54.5% vs. 56.0% vs. 63.0%; P = 0.033). More frequent egg consumption increased semen volume (3.1 mL vs. 3.8 mL vs. 4.0 mL; P = 0.038). Roughage intake enhanced sperm concentration (160.8106 vs. 224.6106; P = 0.027), and adequate sleep improved progressive sperm motility rate (35.4% ± 18.2% vs. 40.2 ± 16.3%, F = 3.747; P = 0.024) and total motility (52.7% vs. 61.5%; P = 0.013). The regression model showed that using plastic containers for condiments was a protective factor for semen volume (OR: 0.12; CI 0.03-0.55; P = 0.006), sperm concentration (OR: 0.001, CI 0.00-0.30; P = 0.012), and count (OR: 0.12, CI 0.03-0.48; P = 0.003). Milk and egg consumption were also protective for semen volume (OR: 0.18, CI 0.06-0.51; P = 0.001 and OR: 0.11, CI 0.03-0.55; P = 0.006, respectively), while sufficient sleep benefitted total sperm motility (OR: 0.47, CI 0.24-0.95; P = 0.034). CONCLUSIONS: Smoking and drinking, type of condiment container, diet preference, sleep duration, and milk, roughage, and egg consumption may reduce semen quality.

Association of living environmental and occupational factors with semen quality in chinese men: a cross-sectional study.

Sperm quality can be easily influenced by living environmental and occupational factors. This study aimed to discover potential semen quality related living environmental and occupational factors, expand knowledge of risk factors for semen quality, strengthen men's awareness of protecting their own fertility and assist the clinicians to judge the patient's fertility. 465 men without obese or underweight (18.5 < BMI < 28.5 kg/m2), long-term medical history and history of drug use, were recruited between June 2020 to July 2021, they are in reproductive age (25 < age < 45 years). We have collected their semen analysis results and clinical information. Logistic regression was applied to evaluate the association of semen quality with different factors. We found that living environment close to high voltage line (283.4 × 106/ml vs 219.8 × 106/ml, Cohen d = 0.116, P = 0.030) and substation (309.1 × 106/ml vs 222.4 × 106/ml, Cohen d = 0.085, P = 0.015) will influence sperm count. Experienced decoration in the past 6 months was a significant factor to sperm count (194.2 × 106/ml vs 261.0 × 106/ml, Cohen d = 0.120, P = 0.025). Living close to chemical plant will affect semen PH (7.5 vs 7.2, Cohen d = 0.181, P = 0.001). Domicile close to a power distribution room will affect progressive sperm motility (37.0% vs 34.0%, F = 4.773, Cohen d = 0.033, P = 0.030). Using computers will affect both progressive motility sperm (36.0% vs 28.1%, t = 2.762, Cohen d = 0.033, P = 0.006) and sperm total motility (57.0% vs 41.0%, Cohen d = 0.178, P = 0.009). After adjust for potential confounding factors (age and BMI), our regression model reveals that living close to high voltage line is a risk factor for sperm concentration (Adjusted OR 4.03, 95% CI 1.15-14.18, R2 = 0.048, P = 0.030), living close to Chemical plants is a protective factor for sperm concentration (Adjusted OR 0.15, 95% CI 0.05-0.46, R2 = 0.048, P = 0.001) and total sperm count (Adjusted OR 0.36, 95% CI 0.13-0.99, R2 = 0.026, P = 0.049). Time spends on computer will affect sperm total motility (Adjusted OR 2.29, 95% CI 1.11-4.73, R2 = 0.041, P = 0.025). Sum up, our results suggested that computer using, living and working surroundings (voltage line, substation and chemical plants, transformer room), and housing decoration may association with low semen quality. Suggesting that some easily ignored factors may affect male reproductive ability. Couples trying to become pregnant should try to avoid exposure to associated risk factors. The specific mechanism of risk factors affecting male reproductive ability remains to be elucidated.

Application of real-time PCR-based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses.

BACKGROUND: To evaluate the value of the real-time PCR-based multicolor melting curve analysis (MMCA) with an automatic analysis system used in a mass thalassemia screening and prenatal diagnosis program. METHODS: A total of 18,912 peripheral blood samples from 9456 couples and 1150 prenatal samples were detected by MMCA assay. All prenatal samples were also tested by a conventional method. Samples with unknown melting peaks, unusual peak height ratios between a wild allele and a mutant allele, or a discordant phenotype-genotype match were further studied by using multiplex ligation-dependent probe amplification (MLPA) or Sanger sequencing. All MMCA results were automatically analyzed and manually checked. The consistency between MMCA assay and conventional methods among prenatal samples was investigated. RESULTS: Except for initiation codon (T > G) (HBB:c.2T > G), all genotypes of thalassemia inside the scope of conventional methods were detected by MMCA assay. Additionally, 27 carriers with 10 rare HBB variants, 13 with α fusion gene, 1 with a rare deletion in α globin gene, and 1 with rare HBA variant were detected by using MMCA assay. CONCLUSION: MMCA can be an alternative approach used in routine thalassemia carrier screening and prenatal diagnosis for its high throughput, sufficient stability, low cost, and easy operation.

Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants.

Background: Thalassemia is the most prevalent monogenic disorder caused by an imbalance between the α- and ß-globin chains as a result of pathogenic variants in the α- or ß-globin genes. Novel or complex structural changes in globin genes are major hurdles for genetic consulting and prenatal diagnosis. Methods: From 2020 to 2022, genetic analysis was performed on 1,316 families suspected of having children with thalassemia major, including 42 pregnant couples suspected of being thalassemia carriers with rare variants. Multiple techniques including multiplex ligation-dependent probe amplification (MLPA), Sanger sequencing, targeted next-generation sequencing, and single-molecule real-time (SMRT) sequencing were used to diagnose rare thalassemia. Results: The rate of prenatal diagnosis for rare thalassemia variants was 3.19% (42/1,316). The most prevalent alleles of α- and ß-thalassemia are Chinese Gγ(Aγδß)0and -- THAI deletion. In addition, ten rare complex genotypes include one Chinese Gγ(Aγδß)0 deletion combined with HBG1-HBG2 fusion, two rare deletions at HBB gene (hg38, Chr11: 5224211-5232470, hg38, Chr11: 5224303-5227790), one complete 7,412 bp fusion gene for anti-Lepore Hong Kong, two complex rearrangements of the α-globin gene cluster, two novel duplications, and two rare large deletions in the α-globin gene cluster. Conclusion: Accurate gene diagnosis for probands with combined molecular biology techniques is the key to prenatal diagnosis of rare thalassemia.

High accuracy of single-molecule real-time sequencing in detecting a rare α-globin fusion gene in carrier screening population.

INTRODUCTION: The α-globin fusion gene between the HBA2 and HBAP1 genes becomes clinically important in thalassemia screening because this fusion gene can cause severe hemoglobin (Hb) H disease when combining with α0 -thalassemia (α0 -thal). Due to its uncommon rearrangement in the α gene cluster without dosage changes, this fusion gene is undetectable by common molecular testing approaches used for α-thal diagnosis. METHODS: In this study, we used the single-molecule real-time (SMRT) sequencing technique to detect this fusion gene in 23 carriers identified by next-generation sequencing (NGS) among 16,504 screened individuals. Five primers for α and ß thalassemia were utilized. RESULTS: According to the NGS results, the 23 carriers include 14 pure heterozygotes, eight compound heterozygotes with common α-thal alleles, and one homozygote. By using SMRT, the fusion mutant was successfully detected in all 23 carriers. Furthermore, SMRT corrected the diagnosis in two "pure" heterozygotes: one was compound heterozygote with anti-3.7 triplication, and the other was homozygote. CONCLUSION: Our results indicate that SMRT is a superior method compared to NGS in detecting the α fusion gene, attributing to its efficient, accurate, and one-step properties.

Association between the rs3802201 polymorphism of the lncRNA MIR2052HG gene and the risk of recurrent miscarriage in a Southern Chinese population.

BACKGROUND: Plenty of studies have indicated that some genetic polymorphisms of the breast cancer which associated with its susceptibility may also be related to the susceptibility of abortion. MIR2052HG plays an important role in the onset and progression of breast cancer by maintaining the level of ERα, but to the best of our knowledge, the correlation between risk of recurrent abortion and MIR2052HG rs3802201 C>G polymorphism is still unclear. Therefore, we conducted this case-control study to investigate whether MIR2052HG rs3802201 C>G polymorphism is associated with susceptibility of recurrent miscarriage (RM). METHODS: We recruited 392 healthy controls and 248 patients with RM to process this research, the participants were all from southern China, and genotyping was performed by TaqMan method. RESULTS: Our results showed that there was no evidence indicates the MIR2052HG rs3802201 C>G is related to RM (CG and CC: adjusted OR = 0.970, 95% CI = 0.694-1.355, p = 0.8577; GG and CC: adjusted OR = 0.743, 95% CI = 0.416-1.330, p = 0.3174; dominant model: adjusted OR = 0.925, 95% CI = 0.672-1.272, p = 0.6298; recessive model: adjusted OR = 0.751, 95% CI = 0.430-1.321, p = 0.3233). CONCLUSION: We verified that the MIR2052HG rs3802201 C>G allele might be uncorrelated to the RM risk, but these findings require further validation in multicenter studies with larger sample size and different ethnicities.

Evaluation of intervention strategy of thalassemia for couples of childbearing ages in Centre of Southern China.

BACKGROUND: To describe the free intervention strategy of thalassemia for childbearing couples in Guangzhou. METHODS: Routine hematology examinations were conducted for 137,222 couples. Among them, 37,501 couples who had mean corpuscular volume (MCV) <82 fL or mean corpuscular hemoglobin <27 pg were elected for Hb analysis and the deletions of four common α-thalassemia mutation. Reverse dot blot for common nondeletional α-thalassemia and ß-thalassemia was selectively used. Three thousand twenty-two couples randomly selected were offered all those tests as a control group. Sanger sequencing, multiplex ligation-dependent probe amplification and next-generation sequencing were used for rare thalassemia. High-risk couples were offered prenatal diagnosis at 10-13 weeks' gestation based on informed consent. RESULTS: The carrier rates of α-, ß-, and αß-thalassemia and 뫧 thalassemia/deletional HPFH were 7.7%, 3.02%, 0.5% and 0.059% respectively. Of them, 1.37% were identified as at-risk couples and 345 couples terminated the pregnancy. No severe α- and ß-thalassemia births were observed. In the control group, two ß- thalassemia carriers and one case with -α3.7 /ααQS were misdiagnosed, but all at-risk couples were found, and we could save 1,523,774 ¥ using our strategy. The cut-off points of 73.46 fL and 23.25 pg would be useful to find -α+ /αT thalassemia. CONCLUSION: The intervention strategy was cost-effective and offered reference in population thalassemia screening.

[Correlation of age, body mass index and obesity-related biochemical indexes with semen quality in males intending for a second child].

OBJECTIVE: To explore the influence of age, body mass index (BMI) and obesity-related biochemical indexes on semen quality in adult males intending to have a second child in Guangzhou. METHODS: We conducted a questionnaire investigation among 632 adult males seeking medical advice on their intention for a second child at Guangzhou Women and Children's Medical Center from August 2017 to July 2018. We obtained their lipid metabolism indicators and semen parameters, and analyzed the correlation of semen quality with age, BMI, obesity-related biochemical indexes, living environment and occupation. RESULTS: Age, BMI, season of sperm extraction, living environment and occupation all influenced the semen quality of the males. Age was correlated negatively with the percentage of progressively motile sperm (PMS) (r = －0.109, P < 0.05), BMI positively with the semen volume (r = 0.103, P < 0.05) but negatively with the percentage of morphologically normal sperm (MNS) (r = －0.138, P < 0.05), high-density lipoprotein (HDL) negatively with PMS (r = －0.168, P < 0.01) and the percentage of immotile sperm (IM) (r = －0.135, P < 0.05), low-density lipoprotein (LDL) negatively with the semen volume (r = －0.124, P < 0.01), PMS (r = －0.127, P < 0.05), sperm concentration (r = －0.121, P < 0.05) and total sperm count (r = －0.210, P < 0.01) but positively with IM (r = 0.140, P < 0.01). Multivariate regression analysis showed BMI and LDL to be independent factors influencing the semen volume, uric acid to be an independent factor influencing semen liquefaction time, age, HDL and LDL to be independent factors influencing PMS, age, and HDL to be independent factors influencing IM, LDL to be independent factors influencing total sperm count, while BMI and TG to be independent factors influencing MNS. CONCLUSIONS: Age, BMI, season of sperm extraction, living environment and occupation may affect the semen quality of the males in Guangzhou.

KFL1 Gene Variants in α-Thalassemia Individuals with Increased Fetal Hemoglobin in a Chinese Population.

Krüppel-like factor 1 (KLF1) is a pleiotropic erythroid transcription factor that is a regulator of definitive erythropoiesis. The aim of this study was to detect KLF1 gene variants in α-thalassemia (α-thal) carriers with an increased Hb F level in a Chinese population, and determine the changes of hematological parameters as a result of interactions between KLF1 gene mutations and α-thal. Subjects with α-thal and Hb F levels of ≥1.0% were selected for further investigation. Direct sequencing was used to detect KLF1 gene mutations. Hematological parameters of subjects with α-thal and concomitant KLF1 gene mutations and those with α-thal alone were compared. The KLF1 gene variants were detected in 46 of 275 (16.7%) individuals with α-thal and Hb F levels of ≥1.0%. The detection rate of KLF1 gene mutations rose correspondingly when the Hb F level increased. For α0-thal carriers, significantly lower mean corpuscular volume (MCV) and mean corpuscular hemoglobin (Hb) (MCH) values were observed in KLF1 gene mutation-positive carriers than that in KLF1 gene mutation-free carriers; conversely, significantly higher Hb A2 and Hb F levels were observed in the former condition rather than in the latter condition. The results of this study indicate that KLF1 gene variants are common in Chinese subjects with α-thal and increased Hb F levels, and KLF1 gene mutations decreased the red blood cell (RBC) indices in α-thal carriers as that in normal adults.

Effects of glutamine on cytokines 1L-1 and TNF-α in rehabilitation and prognosis of patients with lobectomy.

This study was designed to investigate the effects of glutamine on cytokines 1L-1, TNF-α and prognosis of patients with lobectomy in the process of postoperative rehabilitation. A total of 78 patients with lung cancer who underwent lobectomy from January 2015 to January 2017 were selected in Daqing Oilfield General Hospital (Daqing, China). Patients were randomly divided into two groups, 39 patients in each group. Patients in the control group were treated with conventional treatment, while patients in the observation group were treated with both conventional and glutamine treatment. The levels of TNF-α, endotoxin, serum IL-1, IL-10, IL-15, IL-18 and intercellular adhesion molecule-1 (ICAM-1), myeloperoxidase (MPO) activity, incidence of nausea and vomiting, pulmonary histopathological changes, prognosis, and rehabilitation (time in bed, hospital stay and lung function) were compared between the two groups. Within 1 year after treatment, most patients survived, except 2 patients in the observation group and 3 patients in the control group who died. The rate of postoperation infection in the observation group was slightly lower than that in the control group. After treatment, the levels of endotoxin and TNF-α in the observation group were significantly lower than those in the control group (p<0.05). After treatment, the serum levels of IL-1 and IL-10 were significantly higher and the serum levels of IL-15 and IL-18 were significantly lower in the observation group than those in the control group (p<0.05). The expression levels of ICAM-1 and MPO activity were significantly higher in the observation group than those in the control group (p<0.05). No significant difference in the incidence of nausea and vomiting was found between the two groups (p>0.05). The average postoperative bed rest and hospital stay in the observation group were significantly shorter than those in the control group (p<0.05). The levels of forced expiratory volume in 1 sec (FEV1), forced vital capacity (FVC) and peak expiratory flow rate (PEFR) in the observation group were significantly higher than those in the control group (p<0.05). The results indicated that glutamine treatment is effective in the postoperative rehabilitation of patients undergoing lobectomy. Glutamine can regulate the levels of IL-1 and TNF-α, improve lung function, shorten bed rest and hospitalization days, promote patients postoperative rehabilitation process, and improve patients quality of life.

[Screening Abnormal Hemoglobin Diseases for Couples of Childbearing Age in Guangzhou City by HPLC].

OBJECTIVE: To investigate the incidence and common types of abnormal hemoglobin diseases of the couples at childbearing age by using high performance liquid chromatography (HPLC) in Guangzhou city. METHODS: The couple of childbearing age in the Birth defect intervention project and Free pre pregnancy health examination were screened from October 2008 to February 2016 in Guangzhou city. The HPLC was used to detect abnormal hemoglobin; The Gap-PCR and reverse dot blot(RDB) were used to detect thalassemia gene deletions. RESULTS: The detection rate of hemoglobinopathies was 1.14% in the couples of childbearing age in Guangzhou city. 8 kinds of abnormal hemoglobin were detected: Hb E in 102 cases(17 cases with α thalassemia) , Hb Q-Thailand in 20 cases(18 cases with α thalassemia, 2 cases with α and ß thalassemia), Hb D-Iran in 4 cases(2 cases with α thalassemia, 1 case with α and ß thalassemia), Hb G-Honolulu in 3 cases(1 case with α thalassemia), Hb J-Bangkok in 2 cases(2 cases with α thalassemia), Hb Osu-Christiansborg in 1 case(with α thalassemia), Hb Hasharon in 1 case(with α thalassemia), Hb Koln in 1 case(with α thalassemia). CONCLUSION: The incidence of abnormal hemoglobin diseases in Guangzhou area has been found to be more high, 8 kinds of abnormal hemoglobin are found by HPLC, the HPLC is an effective way to screen the couples of childbearing age for ß thalassemia and hemoglobinopathies.

Development of a fluorescence immunochromatographic assay for the detection of zeta globin in the blood of (--(SEA)) α-thalassemia carriers.

Southeast Asian deletion (--(SEA)) α-thalassemia is an inherited monogenic disorder of human hemoglobin, and embryonic globin ζ (hemoglobin ζ, zeta globin chain or Hb zeta chain) has been shown to be a marker that can be used for the identification of carriers of the (--(SEA)) α-thalassemia deletion. In this work, a fluorescence immunochromatographic assay (FL-ICA) was established to detect the zeta globin chain in the hemolysates of carriers of the (--(SEA)) α-thalassemia deletion. This assay can be completed within 10min using a simple UV detector and does not suffer from interference from the red background color of the hemolysate. A total of 314 blood samples were tested by FL-ICA and ELISA. The results of these assays were confirmed by PCR, the standard technique for genetic disease testing. The sensitivity and specificity of this novel FL-ICA were 100% and 98.0%, respectively; the corresponding values for the ELISA performed simultaneously were 100% and 99.2%, respectively. In conclusion, a new FL-ICA-a simple, fast, convenient, low-cost method-was developed that may be useful in both high-throughput screening and individual detection of the (--(SEA)) α-thalassemia deletion in carriers. Additionally, this qualitative FL-ICA may enlighten the development of a new systems for analysis of other target molecules using whole-blood samples.

A melting curve analysis--based PCR assay for one-step genotyping of ß-thalassemia mutations a multicenter validation.

The increasing number of disease-causing mutations demands a simple, direct, and cost-effective diagnostic genotyping technique capable of detecting multiple mutations. This study validated the efficacy of a novel melting curve analysis-based genotyping assay (MeltPro HBB assay) for 24 ß-thalassemia mutations in the Chinese population. The diagnostic potential of this assay was evaluated in 1022 pretyped genomic DNA samples, including 909 clinical cases of ß-thalassemia minor or major, using a double-blind analysis in a multicenter validation study. Reproducibility of the assay was 100%, and the limit of detection was 10 pg per reaction. All 24 ß-thalassemia mutations were accurately genotyped, and ß-thalassemia genotypes were correctly determined in all 1022 samples, yielding overall sensitivity and specificity of 100%. The concordance rate was 99.4% between this assay and the reference method. It was concluded that the MeltPro HBB assay is useful for reliable genotyping of multiple ß-thalassemia mutations in clinical settings and may have potential as a versatile method for rapid genotyping of known mutations because of its high throughput, accuracy, ease of use, and low cost.

[Population intervention of thalassemia relying on family planning service system].

OBJECTIVE: To set up thalassemia population intervention model in order to decrease the birth of thalassemia major, relying on population and family planning service system. METHODS: Pregnant women and their husbands were educated about thalassemia, and participated in screening and prenatal diagnosis if the couple were carriers of thalassemia in the areas of Huangpu, Panyu, Zengcheng and Tianhe districts of Guangzhou. RESULTS: The network of thalassemia intervention mainly dependent on family planning service system was set up in these regions. A total of 10 695 families participated in thalassemia screening and 16 thalassemia major fetuses were diagnosed in the last two years. No one was thalassemia major in the 8360 newborn. CONCLUSION: Thalassemia population intervention model was set up relying on family planning service system and it significantly decreased the birth of thalassemia major.