Acephalic spermatozoa is a rare teratozoospermia associated with male infertility. However, the pathogenesis of this disorder remains unclear. Here, we report a 27 years old infertile male from a ...consanguineous family, who presented with 99% headless sperm in his ejaculate. Electron microscopic and immunofluorescence analysis suggested breakage at the midpiece of the patient's sperm cells. Subsequent whole‐exome sequencing analysis identified a homozygous deletion within TSGA10 (c.211delG; p.A71Hfs*12), which resulted in the production of truncated TSGA10 protein. TSGA10 is a testis‐specific protein that localized to the midpiece in the spermatozoa of a normal control; however, immunostaining failed to detect TSGA10 protein in the patient's sperm. Western blot analysis also showed complete absence of TSGA10 protein in the patient. One cycle of in vitro fertilization‐assisted reproduction was conducted, but pregnancy was not achieved after embryo transfer, possibly due to poor embryo quality. Therefore, we speculate that the presence of rare sequence variants within TSGA10 may be associated with acephalic spermatozoa in humans.
Acephalic spermatozoa due to biallelic TSGA10 mutation.
Due to the requirement of stringent rules for ultra-low sulfur content of diesel fuels, it is necessary to develop alternative methods for desulfurization of fossil fuel derived oil. Using ...appropriate oxidants and catalysts with the assistance of ultrasound irradiation, model compounds such as dibenzothiophene can be quantitatively oxidized in minutes. For diesel fuels containing various levels of sulfur content, and through the use of catalytic oxidation and ultrasonication followed by solvent extraction, removal efficiency of sulfur-bearing compounds can reach or exceed 99% in a short contact time at ambient temperature and atmospheric pressure. This simple approach can be the basis for obtaining ultra-low sulfur-containing diesel oil. GC-PFPD, GC–MS, and GC-SIMDIS were used to monitor the change of organic sulfur compounds and hydrocarbons in diesels during the process.
Summary
Globozoospermia and acephalic spermatozoa are two rare sperm head anomalies associated with male infertility. Combination of the two phenotypes in the same patient is extremely rare, so the ...underlying pathogenesis of this disorder remains unclear. Here, we report a 35‐year‐old infertile male, who presented with 30% of sperm‐lacked heads and 69% of sperm round‐headed or small‐headed with neck thickening in his ejaculate. Subsequent whole‐exome sequencing (WES) analysis identified compound heterozygous variants within the DNAH6 gene. DNAH6 is a testis‐specific‐expressed protein that was localised to the neck region in the spermatozoa of normal control; however, immunofluorescent staining failed to detect DNAH6 protein in the patient's spermatozoa. Quantitative real‐time PCR analysis also showed the complete absence of DNAH6 mRNA in the patient's spermatozoa. Moreover, two cycles of in vitro fertilisation (IVF)‐assisted reproduction were carried out, but pregnancy was not achieved after embryo transfer. Therefore, rare sequence variants in DNAH6 might be susceptibility risks for human sperm head anomaly.
Organo halides and their derivatives have received much attention in both the design and development of new synthetic reagents, drugs, and functional materials. In this review, we provide a ...comprehensive summary of recent advances and strategies in the halo‐functionalization of diazo compounds, including halogenation, dihalogenation, dihaloolefination, trifluoromethylation, trifluoromethylthiolation, and trifluoromethoxylation, using diverse halogenating agents. Special emphasis is placed on the challenges and achievements of these halogenation strategies. For selected examples, mechanisms leading to unusual reactivities and selectivities are discussed in detail to show the impressive and unique properties of these halogenation reactions. Furthermore, we hope to encourage the scientific community to explore the benefits of using diazo compounds as a straightforward and step‐economic alternative approach to the construction of carbon‐halogen bonds.
Multiferroic BiFeO3 (BFO) films with spontaneously formed periodic stripe domains can generate above-gap open circuit voltages under visible light illumination; nevertheless the underlying mechanism ...behind this intriguing optoelectronic response has not been understood to date. Here, we make contact-free measurements of light-induced currents in epitaxial BFO films via detecting terahertz radiation emanated by these currents, enabling a direct probe of the intrinsic charge separation mechanisms along with quantitative measurements of the current amplitudes and their directions. In the periodic stripe samples, we find that the net photocurrent is dominated by the charge separation across the domain walls, whereas in the monodomain samples the photovoltaic response arises from a bulk shift current associated with the non-centrosymmetry of the crystal. The peak current amplitude driven by the charge separation at the domain walls is found to be 2 orders of magnitude higher than the bulk shift current response, indicating the prominent role of domain walls acting as nanoscale junctions to efficiently separate photogenerated charges in the stripe domain BFO films. These findings show that domain-wall-engineered BFO thin films offer exciting prospects for ferroelectric-based optoelectronics, as well as bias-free strong terahertz emitters.
Much is known about palliative care needs of persons with dementia and their family. Less is known about how to successfully implement models that address those needs. We present specialist models in ...the Netherlands (2017-2018) and Northern Ireland (2016-2017) contrasting its evaluations. From implementation failure in the Netherlands compared with successful implementation in Northern Ireland, we learn that recognizing roles and competencies among all involved is essential in developing effective partnership relationships. All of this is facilitated by referral before the end of life and offering various training programs and in-patient and out-patient services and therapies to show benefits early.
Osteoporosis is a complex multifactorial disease that can lead to an increased risk of fracture. However, selective and effective osteoporosis drugs are still lacking. We showed that Asperosaponin VI ...(AVI) has the implications to be further developed as an alternative supplement for the prevention and treatment of bone loss. AVI has been found to have beneficial effects on metabolic diseases such as bone loss, obesity, and atherosclerosis. Our study was designed to determine the effect and mechanism of action of AVI against bone loss through regulating microbial dysbiosis. A hindlimb unloading mouse model was established to determine the effect of AVI on bone microarchitecture, gut microbiota, and serum metabolites. Eighteen female C57BL/6 J mice were divided into three groups: control, hindlimb unloading with vehicle (HLU), and hindlimb unloading treated with AVI (HLU-AVI, 200 mg/kg/day). AVI was administrated orally for 4 weeks. The results demonstrated that AVI improved the bone microstructure by reversing the decrease in bone volume fraction and trabecular number, and the increase in trabecular separation and structure model index of cancellous bone in hindlimb suspension mice. The results of 16sRNA gene sequencing suggested that the therapeutic effect of AVI on bone loss may be achieved through it regulating the gut microbiota, especially certain specific microorganisms. Combined with the analysis of ELISA, immunohistochemistry, and serum metabolome results, it could be speculated that AVI played an important role in adjusting the balance of bone metabolism by influencing specific flora such as
Clostridium
and its metabolites to regulate the 5-hydroxytryptophan pathway. The study explored the novel mechanism of AVI against osteoporosis, and has implications for the further development of AVI as an alternative supplement for the prevention and treatment of bone loss.
Graphical Abstract
A novel polysaccharide isolated from
Angelica sinensis, named APS-1d showed cytotoxic activity towards several cancer cell lines
in vitro. However, the precise antitumor mechanisms of this compound ...are unknown. In this study, we investigated the pro-apoptotic effects of APS-1d in human cervical cancer HeLa cells both
in vitro and
in vivo, and further elucidated the mechanisms of this action. Inhibition of HeLa cell proliferation was determined by MTT assay and the therapeutic efficacy of APS-1d was evaluated by human cancer xenografts in nude mice. Cell apoptosis was examined with flow cytometry and TUNEL assay. The mechanism of action of APS-1d was investigated by Western blot analysis. APS-1d decreased HeLa cell proliferation in a concentration- and time-dependent manner
in vitro. In addition, APS-1d significantly inhibited tumor growth in athymic nude mice. Characteristic manifestations of apoptosis including apoptotic morphological features and the sub- G
0/G
1 peaks were observed when the cells were treated with APS-1d. Further analysis showed that APS-1d-induced apoptosis was associated with the regulation of Bcl-2 family protein expression, a decrease in the mitochondrial membrane potential, and an increase in the cytosolic cytochrome
c levels. Sequentially, APS-1d increased the activities of caspase-9, -3, and poly (ADP-ribose) polymerase in a concentration-dependent manner, however, no obvious activation of Bid and caspase-8 was observed. Pretreatment with Z-LEHD-FMK, a specific inhibitor of caspase-9, significantly attenuated APS-1d-induced cell apoptosis, and activation of caspase-3. Taken together, our studies indicate that APS-1d is capable of inhibiting HeLa cell proliferation and inducing apoptosis in these cells which primarily involves the activation of the intrinsic mitochondrial pathway.
Asthenozoospermia (AZS) is a common cause of male infertility, characterized by abnormal reduction in the motility of ejaculated spermatozoa. Here, in a patient from a consanguineous family, we ...identified a homozygous mutation (c.G4343A, p.R1448Q) in SPAG17 by whole‐exome sequencing. The encoded protein, SPAG17, localizes to the axonemal central apparatus and is considered essential for flagellar waveform. In silico analysis revealed that R1448Q is a potential pathogenic mutation. Immunostaining and western blot assays showed that the R1448Q mutation may exert a negative effect on the steady‐state of the SPAG17 protein. Therefore, SPAG17 may be a new pathogenic gene causing AZS.
PDF
