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Background/Objectives: Cervical spine fractures in ankylosing spondylitis (AS) are characterized as highly unstable fractures posing an elevated risk of neurological deficit and a significantly elevated mortality rate. This study assesses the efficacy and safety of single-stage plate stabilization with ventral cement augmentation in treating subaxial cervical spine fractures in patients with AS. Methods: Over 86 months, 38 patients diagnosed with AS received ventral plate stabilization with cement augmentation after suffering unstable subaxial cervical fractures. No additional dorsal stabilization was used in any of these surgeries. Results: There were no complications as a result of cement leakage. During the follow-up period, screw loosening and implant displacement were documented in two out of 38 cases. At the time of data analysis, 17 patients who had undergone treatment had died, representing 44.7% of the total cases. Seven patients died within 1 month, two patients died within 6 months, four patients died within 1 year, and four patients died after 1 year. Conclusions: Our study shows that a single-stage anterior screw and plate fixation of the cervical spine with cement augmentation could be a feasible and effective method to treat cervical spine fractures in patients with AS.
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Background: Psoas muscle abscess (PMA) is an uncommon yet severe condition characterized by diagnostic and therapeutic challenges due to its varied etiology and nonspecific symptoms. This study aimed to evaluate the effectiveness and accuracy of various imaging techniques used in the image-guided percutaneous drainage (PD) of PMA. Methods: A systematic review was conducted following the PRISMA guidelines. We searched PubMed, Google Scholar, and Science Direct for studies published in English from 1998 onwards that reported on the use of PD in treating PMA, detailing outcomes and complications. Imaging modalities guiding PD were also examined. Results: We identified 1570 articles, selecting 39 for full review. Of these, 23 met the inclusion criteria; 19 were excluded due to unspecified PMA, absence of imaging guidance for PD, or inconclusive results. Eleven studies utilized computed tomography (CT) for PD, with six also using magnetic resonance imaging (MRI). Ten studies implemented ultrasound (US)-guided PD; variations in diagnostic imaging included combinations of US, CT, and MRI. A mixed approach using both CT and US was reported in two articles. Most studies using CT-guided PD showed complete success, while outcomes varied among those using US-guided PD. No studies employed MRI-guided PD. Conclusions: This review supports a multimodal approach for psoas abscess management, using MRI for diagnosis and CT for drainage guidance. We advocate for Cone Beam CT (CBCT)-MRI fusion techniques with navigation systems to enhance treatment precision and outcomes, particularly in complex cases with challenging abscess characteristics.
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Background/Objectives: Osteoporotic vertebral fractures (OVFs) significantly impair quality of life. This study evaluates the impact of STIR sequence MR imaging on clinical decision-making for treating OVFs, mainly focusing on how MRI findings influence treatment modifications compared to those based solely on CT scans. Methods: This retrospective analysis reviewed cases from the Manninger Jeno National Traumatology Institute over ten years, where patients with suspected OVFs underwent CT and STIR sequence MR imaging. The study examined changes in treatment plans initiated by MRI findings. The diagnostic effectiveness of MRI was compared against CT in terms of sensitivity, specificity, and the ability to influence clinical treatment paths. Results: MRI detected 1.65 times more fractures than CT scans. MRI influenced treatment adjustments in 67% of cases, leading to significant changes from conservative-conservative, conservative-surgery, and surgery-surgery based on fracture characterizations provided by MRI. Conclusions: This study demonstrates that integrating STIR sequence MR imaging into the diagnostic pathway for OVFs significantly enhances the accuracy of fracture detection and profoundly impacts treatment decisions. The ability of MRI to reveal specific fracture features that are not detectable by CT scans supports its importance in the clinical evaluation of OVFs, suggesting that MRI should be incorporated more into diagnostic protocols to improve patient management and outcomes. The findings advocate for further research to establish STIR MRI as a standard osteoporosis management tool and explore its long-term benefits in preventing secondary fractures.
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One of the most noteworthy differential equations of the first order is the Riccati differential equation. It is applied in various branches of mathematics, including algebraic geometry, physics, and conformal mapping theory. The J-transform Adomian decomposition method is employed in the current study to find exact solutions for different kinds of nonlinear differential equations. We give thorough detailed proofs for new theorems related to the J-transform technique. The Adomian decomposition method and the J-transform method serve as the foundation for this technique. For certain differential equations, the theoretical analysis of the J-transform Adomian decomposition method is examined and is computed using readily computed terms. Our findings are contrasted with exact solutions found in the literature that were produced using alternative techniques. The significant features of the J-transform Adomian decomposition method are described in the article. It has been shown that the J-transform Adomian decomposition method is very efficient, useful, and adaptable to a broad variety of linear and nonlinear differential equations. Most of the symbolic and numerical calculations were performed using Mathematica.
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BACKGROUND: Arteriovenous malformations (AVMs) are vascular anomalies characterized by abnormal shunting between arteries and veins. The progression of the AVMs and their hemodynamic and rheological relations are poorly studied, and there is a lack of a feasible experimental model. OBJECTIVE: To establish a model that cause only minimal micro-rheological alterations, compared to other AV models. METHODS: Sixteen female Sprague Dawley rats were randomly divided into control and AVM groups. End-to-end anastomoses were created between the saphenous veins and arteries to mimic AVM nidus. Hematological and hemorheological parameters were analyzed before surgery and on the 1st, 3rd, 5th, 7th, 9th, and 12th postoperative weeks. RESULTS: Compared to sham-operated Control group the AVM group did not show important alterations in hematological parameters nor in erythrocyte aggregation and deformability. However, slightly increased aggregation and moderately decreased deformability values were found, without significant differences. The changes normalized by the 12th postoperative week. CONCLUSIONS: The presented rat model of a small-caliber AVM created on saphenous vessels does not cause significant micro-rheological changes. The alterations found were most likely related to the acute phase reactions and not to the presence of a small-caliber shunt. The model seems to be suitable for further studies of AVM progression.
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Malformaciones Arteriovenosas , Modelos Animales de Enfermedad , Ratas Sprague-Dawley , Animales , Ratas , Femenino , Malformaciones Arteriovenosas/patología , Vena Safena/patología , Hemorreología , Derivación Arteriovenosa Quirúrgica , Deformación Eritrocítica , Agregación EritrocitariaRESUMEN
Spinal metastatic tumors are common and often cause debilitating symptoms. Image-guided percutaneous thermal ablation (IPTA) has gained significant recognition in managing spinal column tumors due to its exceptional precision and effectiveness. Conventional guidance modalities, including computed tomography, fluoroscopy, and ultrasound, have been important in targeting spinal column tumors while minimizing harm to adjacent critical structures. This study presents a novel approach utilizing a fusion of cone beam computed tomography with magnetic resonance imaging to guide percutaneous thermal ablation for four patients with secondary spinal column tumors. The visual analog scale (VAS) evaluated the procedure effectiveness during an 18-month follow-up. Percutaneous vertebroplasty was performed in two cases, and a thermostat was used during all procedures. Imaging was performed using the Stealth Station navigation system Spine 8 (SSS8) and a 1.5T MRI machine. The fusion of CBCT with MRI allowed for precise tumor localization and guidance for thermal ablation. Initial results indicate successful tumor ablation and symptom reduction, emphasizing the potential of CBCT-MRI fusion in spinal column tumor management. This innovative approach is promising in optimizing therapy for secondary spinal column tumors. Further studies are necessary to validate its efficacy and applicability.
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Arteriovenous malformation (AVM) is an anomaly of blood vessel formation. Numerous models have been established to understand the nature of AVM. These models have limitations in terms of the diameter of the vessels used and the impact on the circulatory system. Our goal was to establish an AVM model that does not cause prompt and significant hemodynamic and cardiac alterations but is feasible for follow-up of the AVM's progression. Sixteen female rats were randomly divided into sham-operated and AVM groups. In the AVM group, the saphenous vein and artery were interconnected using microsurgical techniques. The animals were followed up for 12 weeks. Anastomosis patency and the structural and hemodynamic changes of the heart were monitored. The hearts and vessels were histologically analyzed. During the follow-up period, shunts remained unobstructed. Systolic, diastolic, mean arterial pressure, and heart rate values slightly and non-significantly decreased in the AVM group. Echocardiogram results indicated minor systolic function impact, with slight and insignificant changes in aortic pressure and blood velocity, and minimal left ventricular wall enlargement. The small-caliber saphenous AVM model does not cause acute hemodynamic changes. Moderate but progressive alterations and venous dilatation confirmed AVM-like features. The model seems to be suitable for studying further the progression, enlargement, or destabilization of AVM.
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Classifying spinal tumors can be challenging due to nonspecific clinical and radiological qualities, and a precise biopsy is crucial for an accurate diagnosis and treatment planning. This study aimed to enhance the accuracy and efficiency of spinal biopsies integrating Cone Beam Computed Tomography (CBCT) and magnetic resonance imaging (MRI) modalities using an O-arm CT navigation system. Eighteen patients with different spinal lesions underwent 18 biopsies following the Stealth Station navigation system Spine 8 protocol. Preoperative MRI scans were merged with intraoperative CT navigation systems for continuous monitoring during the biopsy process. The combined imaging technique accurately identified the diseased lesion type in all biopsies, demonstrating 100% sensitivity and specificity. In conclusion, combining MRI and CT imaging modalities significantly improved spinal biopsy accuracy and efficiency, differentiating between pathological entities. However, large-scale studies are desired to validate these findings and investigate potential benefits in different clinical scenarios. Although this method requires general anesthesia, its potential profits in avoiding misdiagnosed lesions and decreasing the need for further invasive procedures make it a promising approach for improving spinal biopsy accuracy and efficiency.
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The expression levels of various genes involved in human spermatogenesis are influenced by microRNAs (miRNAs), specifically microRNA-23a/b-3p. While certain genes are essential for spermatogenesis and male germ cell function, the regulation of their expression remains unclear. This study aimed to investigate whether microRNA-23a/b-3p targets genes involved in spermatogenesis and the impact of this targeting on the expression levels of these genes in males with impaired fertility. In-silico prediction and dual-luciferase assays were used to determine the potential connections between microRNA-23a/b-3p overexpression and reduced expression levels of 16 target genes. Reverse transcription-quantitative PCR (RT-qPCR) was conducted on 41 oligoasthenozoospermic men receiving infertility treatment and 41 age-matched normozoospermic individuals to verify the lower expression level of target genes. By employing dual-luciferase assays, microRNA-23a-3p was found to directly target eight genes, namely NOL4, SOX6, GOLGA6C, PCDHA9, G2E3, ZNF695, CEP41, and RGPD1, while microRNA-23b-3p directly targeted three genes, namely SOX6, GOLGA6C, and ZNF695. The intentional alteration of the microRNA-23a/b binding site within the 3' untranslated regions (3'UTRs) of the eight genes resulted in the loss of responsiveness to microRNA-23a/b-3p. This confirmed that NOL4, SOX6, GOLGA6C, PCDHA9, and CEP41 are direct targets for microRNA-23a-3p, while NOL4, SOX6, and PCDHA9 are direct targets for microRNA-23b-3p. The sperm samples of oligoasthenozoospermic men had lower expression levels of target genes than age-matched normozoospermic men. Correlation analysis indicated a positive correlation between basic semen parameters and lower expression levels of target genes. The study suggests that microRNA-23a/b-3p plays a significant role in spermatogenesis by controlling the expression of target genes linked to males with impaired fertility and has an impact on basic semen parameters.
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The incorporation of data analytics in the healthcare industry has made significant progress, driven by the demand for efficient and effective big data analytics solutions. Knowledge graphs (KGs) have proven utility in this arena and are rooted in a number of healthcare applications to furnish better data representation and knowledge inference. However, in conjunction with a lack of a representative KG construction taxonomy, several existing approaches in this designated domain are inadequate and inferior. This paper is the first to provide a comprehensive taxonomy and a bird's eye view of healthcare KG construction. Additionally, a thorough examination of the current state-of-the-art techniques drawn from academic works relevant to various healthcare contexts is carried out. These techniques are critically evaluated in terms of methods used for knowledge extraction, types of the knowledge base and sources, and the incorporated evaluation protocols. Finally, several research findings and existing issues in the literature are reported and discussed, opening horizons for future research in this vibrant area.
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Sperm motility is a prerequisite for achieving pregnancy, and alterations in sperm motility, along with sperm count and morphology, are commonly observed in subfertile men. The aim of the study was to determine whether the expression level of genes annotated with the Gene Ontology (GO) term 'sperm motility' differed in sperm collected from healthy men and men diagnosed with oligoasthenozoospermia. Reverse transcription quantitative real-time PCR (RT-qPCR), quantitative mass spectrometry (LC-MS/MS), and enrichment analyses were used to validate a set of 132 genes in 198 men present at an infertility clinic. Out of the 132 studied sperm-motility-associated genes, 114 showed differentially expressed levels in oligoasthenozoospermic men compared to those of normozoospermic controls using an RT-qPCR analysis. Of these, 94 genes showed a significantly lower expression level, and 20 genes showed a significantly higher expression level. An MS analysis of sperm from an independent cohort of healthy and subfertile men identified 692 differentially expressed proteins, of which 512 were significantly lower and 180 were significantly higher in oligoasthenozoospermic men compared to those of the normozoospermic controls. Of the 58 gene products quantified with both techniques, 48 (82.75%) showed concordant regulation. Besides the sperm-motility-associated proteins, the unbiased proteomics approach uncovered several novel proteins whose expression levels were specifically altered in abnormal sperm samples. Among these deregulated proteins, there was a clear overrepresentation of annotation terms related to sperm integrity, the cytoskeleton, and energy-related metabolism, as well as human phenotypes related to spermatogenesis and sperm-related abnormalities. These findings suggest that many of these proteins may serve as diagnostic markers of male infertility. Our study reveals an extended number of sperm-motility-associated genes with altered expression levels in the sperm of men with oligoasthenozoospermia. These genes and/or proteins can be used in the future for better assessments of male factor infertility.
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Infertilidad Masculina , Semen , Embarazo , Femenino , Humanos , Masculino , Semen/metabolismo , Cromatografía Liquida , Espectrometría de Masas en Tándem , Espermatozoides/metabolismo , Infertilidad Masculina/genética , Infertilidad Masculina/metabolismo , Fertilidad/genéticaRESUMEN
Although the proteome of sperm has been characterized, there is still a lack of high-throughput studies on dysregulated proteins in sperm from subfertile men, with only a few studies on the sperm proteome in asthenozoospermic and oligoasthenozoospermic men. Using liquid chromatography-mass spectrometry (LC-MS/MS) along with bioinformatics analyses, we investigated the proteomic landscape of sperm collected from subfertile men (n = 22), i.e., asthenozoospermic men (n = 13), oligoasthenozoospermic men (n = 9) and normozoospermic controls (n = 31). We identified 4412 proteins in human sperm. Out of these, 1336 differentially abundant proteins were identified in 70% of the samples. In subfertile men, 32 proteins showed a lower abundance level and 34 showed a higher abundance level when compared with normozoospermic men. Compared to normozoospermic controls, 95 and 8 proteins showed a lower abundance level, and 86 and 1 proteins showed a higher abundance level in asthenozoospermic and oligoasthenozoospermic men, respectively. Sperm motility and count were negatively correlated with 13 and 35 and positively correlated with 37 and 20 differentially abundant proteins in asthenozoospermic and oligoasthenozoospermic men, respectively. The combination of the proteins APCS, APOE, and FLOT1 discriminates subfertile males from normozoospermic controls with an AUC value of 0.95. Combined APOE and FN1 proteins discriminate asthenozoospermic men form controls with an AUC of 1, and combined RUVBL1 and TFKC oligoasthenozoospermic men with an AUC of 0.93. Using a proteomic approach, we revealed the proteomic landscape of sperm collected from asthenozoospermic or oligoasthenozoospermic men. Identified abundance changes of several specific proteins are likely to impact sperm function leading to subfertility. The data also provide evidence for the usefulness of specific proteins or protein combinations to support future diagnosis of male subfertility.
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Astenozoospermia , Proteoma , Humanos , Masculino , Proteoma/metabolismo , Proteómica , Cromatografía Liquida , Semen/metabolismo , Motilidad Espermática , Espectrometría de Masas en Tándem , Espermatozoides/metabolismo , Astenozoospermia/diagnóstico , Apolipoproteínas E , ATPasas Asociadas con Actividades Celulares Diversas/metabolismo , Proteínas Portadoras/metabolismo , ADN Helicasas/metabolismoRESUMEN
Seminal plasma contains a variety of extracellular vesicles (EVs) that deliver RNAs including microRNAs (miRNAs) molecules. However, the roles of these EVs along with their delivered RNAs and their interactions with male infertility are not clear. Sperm-associated antigen 7 (SPAG 7) is expressed in male germ cells and plays a crucial role in several biological functions associated with sperm production and maturation. In this study, we aimed to identify the post-transcriptional regulation of SPAG7 in seminal plasma (SF-Native) and seminal plasma-derived extracellular vesicles (SF-EVs) collected from 87 men undergoing infertility treatment. Among the multiple binding sites for miRNAs within its 3'UTR of SPAG7, we identified the binding of four miRNAs (miR-15b-5p, miR-195-5p, miR-424-5p, and miR-497-5p) to the 3'UTR of SPAG7 by the dual luciferase assays. Analyzing sperm, we found reduced mRNA expression levels of SPAG7 in SF-EVs and SF-Native samples from oligoasthenozoospermic men. By contrast, two miRNAs (miR-424-5p and miR-497-5p) form the SF-Native samples, and four miRNAs (miR-195-5p, miR-424-5p, miR-497-5p, and miR-6838-5p) from the SF-EVs samples showed significantly higher expression levels in oligoasthenozoospermic men. The expression levels of miRNAs and SPAG7 were significantly correlated with basic semen parameters. These findings contribute significantly to our understanding of regulatory pathways in male fertility by showing a direct link between upregulated miRNA, notably miR-424, and downregulated SPAG7 both in seminal plasma and in plasma-derived EVs likely contributing to oligoasthenozoospermia.
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Vesículas Extracelulares , Infertilidad Masculina , MicroARNs , Humanos , Masculino , Semen , Regiones no Traducidas 3' , Antígenos de SuperficieRESUMEN
BACKGROUND: An inability of a man to conceive a potentially fertile woman after a year of unprotected intercourse is defined as male infertility. It is reported that 30-40% of males in their reproductive years have abnormalities in sperm production, either qualitatively or quantitatively, or both. However, genetic factors result in up to 15% of male infertility cases. The present study aimed to analyze the possible correlations between sub-fertility and polymorphisms in sperm mitochondrial CO3, ATP6 and ATP8 genes in sub-fertile men. METHODS AND RESULTS: For 67 sub-fertile and 44 fertile male samples, Sanger sequencing of selected mitochondrial DNA genes was done. A total of twelve SNPs in the MT-CO3 gene: rs2248727, rs7520428, rs3134801, rs9743, rs28358272, rs2853824, rs2856985, rs2854139, rs41347846, rs28380140, rs3902407, and 28,411,821, fourteen SNPs in the MT-ATP6: rs2001031, rs2000975, rs2298011, rs7520428, rs9645429, rs112660509, rs6650105, rs6594033, rs6594034, rs6594035, rs3020563, rs28358887, rs2096044, and rs9283154, and ten SNPs in the MT-ATP8: rs9285835, rs9285836, rs9283154, rs8179289, rs121434446, rs1116906, rs2153588, rs1116905, rs1116907, and rs3020563 were detected in the case and control groups at different nucleotide positions. Only the rs7520428 in the MT-CO3 and MT-ATP6 showed a statistically significant difference between sub-fertile and fertile groups in the genotype's and allele's frequency test (P < 0.0001 for both). CONCLUSION: The results of our study suggest that male sub-fertility is linked with rs7520428 SNP in MT-CO3 and MT-ATP6. The studied polymorphic variations in the MT-ATP8 gene, on the contrary, did not reveal any significant association with male sub-fertility.
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Genes Mitocondriales , Infertilidad Masculina , Femenino , Humanos , Masculino , ADN Mitocondrial/genética , Infertilidad Masculina/genética , ATPasas de Translocación de Protón Mitocondriales/genética , Polimorfismo de Nucleótido Simple/genética , Semen/metabolismo , Espermatozoides/metabolismoRESUMEN
Vascular graft maturation is associated with blood flow characteristics, such as velocity, pressure, vorticity, and wall shear stress (WSS). Many studies examined these factors separately. We aimed to examine the remodeling of arterio-venous fistulas (AVFs) and loop-shaped venous interposition grafts, together with 3D flow simulation. Thirty male Wistar rats were randomly and equally divided into sham-operated, AVF, and loop-shaped venous graft (Loop) groups, using the femoral and superficial inferior epigastric vessels for anastomoses. Five weeks after surgery, the vessels were removed for histological evaluation, or plastic castings were made and scanned for 3D flow simulation. Remodeling of AVF and looped grafts was complete in 5 weeks. Histology showed heterogeneous morphology depending on the distribution of intraluminal pressure and WSS. In the Loop group, an asymmetrical WSS distribution coincided with the intima hyperplasia spots. The tunica media was enlarged only when both pressure and WSS were high. The 3D flow simulation correlated with the histological findings, identifying "hotspots" for intimal hyperplasia formation, suggesting a predictive value. These observations can be useful for microvascular research and for quality control in microsurgical training.
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Infertility is a common health problem that affects around 1 in 6 couples in the United States, where half of these cases are attributed to male factors. Genetics play an important role in infertility and it is estimated that up to 50% of cases are due to genetic factors. Despite this, many male infertility cases are still idiopathic. This study aimed to identify the presence of possibly pathogenic rare variants in a set of candidate genes related to azoospermia in 69 Jordanian men using a next-generation sequencing-based panel covering more than a hundred male infertility related genes. A total of 9 variants were found and validated. Among them, two variants included reported pathogenic variants in CFTR and one novel pathogenic variant in the USP9Y gene. We also report the detection of 6 other variants with uncertain significance in other genes. Interestingly, male cases with CFTR variants did not show the expected cystic fibrosis phenotypes except for infertility. This work helps to uncover the contribution of additional genetic factors to the aetiology of male infertility and highlights the importance to obtain more reliable information about the presence of genetic variation in the Jordanian population.
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Azoospermia , Infertilidad Masculina , Oligospermia , Masculino , Humanos , Azoospermia/genética , Azoospermia/diagnóstico , Oligospermia/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Jordania , Mutación , Infertilidad Masculina/genéticaRESUMEN
Elevated concentrations of reactive oxygen species (ROS) in the semen can lead to oxidative protein damage as they react with the amino acids' side chains in the protein, leading to the generation of carbonyl groups. This study aimed to investigate the effect of protein carbonyl (PC) concentration on sperm motility and the laboratory intracytoplasmic sperm injection (ICSI) outcomes. A total of 150 couples from the ICSI cycle were enrolled in this study and were divided into three groups (G) according to the PC concentration as following, G1 included samples with PC concentrations <0.65 nmol/mg, G2 included samples with 0.65≤PC≤2.23 nmol/mg and G3 included samples with PC>2.23 (nmol/mg). PC concentrations were measured in all semen samples, and the laboratory ICSI outcomes were evaluated for all injected oocytes. The Kruskal-Wallis p-values for the differences in the medians of sperm motility, fertilisation rate, embryo cleavage score and embryo quality score were <0.05. Furthermore, Dunn's post hoc test showed a significant difference between all groups, p-values <0.05, except for the medians of embryo quality score between G2 and G3. In conclusion, our results showed that sperm motility and laboratory ICSI outcomes are affected negatively by higher concentrations of PC in the semen.
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Astenozoospermia , Inyecciones de Esperma Intracitoplasmáticas , Humanos , Laboratorios , Masculino , Carbonilación Proteica , Motilidad Espermática , EspermatozoidesRESUMEN
Sperm mitochondrial dysfunction causes the generation of an insufficient amount of energy needed for sperm motility. This will affect sperm fertilization capacity, and thus, most asthenozoospermic men usually require assisted reproductive techniques. The etiology of asthenozoospermia remains largely unknown. The current study aimed to investigate the effect of mitochondrial genetic variants on sperm motility and intracytoplasmic sperm injection (ICSI) outcomes. A total of 150 couples from the ICSI cycle were enrolled in this study. One hundred five of the male partners were asthenozoospermic patients, and they were subdivided into three groups according to their percentage of sperm motility, while forty-five of the male partners were normozoospermic. Genetic variants were screened using direct Sanger's sequencing in four mitochondrial genes (nicotinamide adenine dinucleotide hydrogen (NADH) dehydrogenase 1 (ND1), NADH dehydrogenase 2 (ND2), NADH dehydrogenase 5 (ND5), and NADH dehydrogenase 6 (ND6)). We identified three significant variants: 13708G>A (rs28359178) in ND5, 4216T>C (rs1599988) in ND1, and a novel 12506T>A in ND5 with P values 0.006, 0.036, and 0.013, respectively. The medians of sperm motility, fertilization rate, embryo cleavage score, and embryo quality score were significantly different between men showing 4216T>C, 12506T>A, 13708G>A and wild type, Mann-Whitney P values for the differences in the medians were < 0.05 in all of them. The results from this study suggest that 13708G>A, 12506T>A, and 4216 T>C variants in sperm mitochondrial DNA negatively affect sperm motility and ICSI outcomes.
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ADN Mitocondrial/genética , Complejo I de Transporte de Electrón/genética , Proteínas Mitocondriales/genética , NADH Deshidrogenasa/genética , Inyecciones de Esperma Intracitoplasmáticas , Motilidad Espermática/genética , Humanos , MasculinoRESUMEN
The expansion of trinucleotide CGG repeats in the promoter of fragile X mental retardation 1 (FMR1) gene is associated with fragile X and fragile X associated tremor/ataxia syndromes. While the expansion of CGG repeats has been associated with such neuro/psychiatric diseases, the contraction of CGG repeats has been recently suggested as an indication of ovarian dysfunction. This study aimed to evaluate a possible association of the short CGG repeats with poor ovarian responders (POR) and to test for a possible correlation between the CGG size and different known markers of the ovarian reserve, namely FSH, AMH, and the number of retrieved oocytes from Jordanian females. We found a significant difference between the CGG median allele size between the cases and the controls (p < 0.001), where poor ovarian responders had shorter CGG repeats compared to the healthy controls. Also, females with alleles <26 had twice the odds to be presented in the POR compared to the controls. However, we did not find a significant correlation between CGG sizes and the markers of ovarian reserve. We conclude that although low CGG repeats appear to be linked to POR, the clinical utility of FMR1 for predicting ovarian response needs further investigation.
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Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Reserva Ovárica/genética , Repeticiones de Trinucleótidos/genética , Adulto , Alelos , Hormona Antimülleriana/genética , Ataxia , Femenino , Hormona Folículo Estimulante/genética , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/metabolismo , Síndrome del Cromosoma X Frágil , Frecuencia de los Genes/genética , Humanos , Jordania/epidemiología , Reserva Ovárica/fisiología , Ovario/metabolismo , Insuficiencia Ovárica Primaria/genética , Insuficiencia Ovárica Primaria/fisiopatología , Regiones Promotoras Genéticas/genética , Temblor , Expansión de Repetición de TrinucleótidoRESUMEN
Introduction: In case of kidney failure, hemodialysis is the primary kidney replacement technique. Several vascular access methods used for the therapy, one of which is the arterio-venous fistula (AVF). In the AVF, the blood flow is altered, which can elevate the mechanical stress on the red blood cells (RBCs). This can affect the RBC hemorheological properties, and it can further cause systemic changes. To lower the turbulence and shear stress, we performed a loop-shaped arterio-arterial venous interposition graft (loop-shaped graft) to compare its effect to the conventional AVF. Materials and Methods: Thirty male Wistar were used (permission registration Nr.: 25/2016/UDCAW). The animals were randomly divided into sham-operated, AVF, and loop groups (n = 10/each). The superficial inferior epigastric vein (SIEV) was used to create the AVF and the loop-shaped graft. Blood samples were taken before/after the surgery and at the 1st, 3rd, and 5th postoperative weeks. We measured hemorhelogical, hematological, and blood gas parameters. The microcirculation of the hind limbs was also monitored using Laser Doppler fluxmetry. Results: Hematocrit, RBC count, and hemoglobin decreased by the 1st postoperative week. The erythrocyte aggregation values significantly increased in the fistula group by the 5th week (6.43 ± 2.31 vs. 13.60; p < 0.0001; vs. before operation). At the postoperative 1st week in the loop group, the values showed a significant decrease in RBC deformability. During the maturation period, dominantly at the 5th week, all values were normalized. The operated hind limb's skin microcirculation significantly increased in the sham and loop group by the 1st week (39 ± 10.57 vs. 73.93 ± 1.97 BFU, p < 0.01). This increase wasn't observed in the fistula group probably due to a steal-effect. Conclusion: Unlike in the loop group, in the presence of the fistula, several rheological parameters have changed. The loop-shaped graft had only minimal impact on micro-rheological parameters.