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.
Over 220,000 asylum seekers and refugees (ASR) lived in the United Kingdom in 2021. Traumatic experiences lived during the different phases of the migration process make people seeking asylum ...vulnerable to mental health conditions, including post-traumatic stress and depression. Assessments conducted by various local authorities since 2016 stress the need to improve ASR's access to appropriate mental health support, but lack clarity on how to achieve this. This article explores perceptions of mental health support needs for ASR, and contrasts them to service provision. Data were collected via semi-structured interviews with nine ASR and six individuals who provide wellbeing support to ASR living in Brighton and Hove, and were analysed via thematic analysis using NVivo. Three main themes emerged, relating to the need for holistic mental health support for ASR, the disjunctive between perceived needs and the available support, and the barriers to accessing existing services. Findings highlight the need for holistic, specialised, culturally sensitive and sustainable mental health support for ASR, and illustrate how training healthcare receptionists on the rights and entitlements of ASR and greater support services coordination can help strengthen ASR's access to the available support services and their mental wellbeing.
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•Interest for biodegradable polymers is increasing driven by sustainability trend.•Use of CNC as reinforcement in polymer nanocomposites is highlighted.•Effect of CNCs on the overall ...properties of the nanocomposites is discussed.•Focus on rheological, thermal, mechanical, barrier and biodegradation properties.
Cellulose nanocrystals (CNCs) are considered as one of the most attractive renewable reinforcements for biodegradable polymers due to their promising properties and broad range of applications in several fields. However, the knowledge of CNCs effect on the overall properties of these CNC-based nanocomposites is not fully clarified. This review proposes a comprehensive understanding on the effect of CNCs on the rheological, thermal, mechanical, barrier and biodegradation properties of the main biodegradable polymers. This further understanding is expected to facilitate progress in various sectors of nanotechnology and materials science.
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.
Podoconiosis is one of the few diseases that could potentially be eliminated within one generation. Nonetheless, the global distribution of the disease remains largely unknown. The global atlas of ...podoconiosis was conceived to define the epidemiology and distribution of podoconiosis through dedicated surveys and assembling the available epidemiological data.
We have synthesized the published literature on the epidemiology of podoconiosis. Through systematic searches in SCOPUS and MEDLINE from inception to February 14, 2018, we identified observational and population-based studies reporting podoconiosis. To establish existence of podoconiosis, we used case reports and presence data. For a study to be included in the prevalence synthesis, it needed to be a population-based survey that involved all residents within a specific area. Studies that did not report original data were excluded. We undertook descriptive analyses of the extracted data. This study is registered with PROSPERO, number CRD42018084959.
We identified 3,260 records, of which 27 studies met the inclusion criteria. Podoconiosis was described to exist or be endemic in 32 countries, 18 from the African Region, 3 from Asia and 11 from Latin America. Overall, podoconiosis prevalence ranged from 0·10% to 8.08%, was highest in the African region, and was substantially higher in adults than in children and adolescents. The highest reported prevalence values were in Africa (8.08% in Cameroon, 7.45% in Ethiopia, 4.52% in Uganda, 3.87% in Kenya and 2.51% in Tanzania). In India, a single prevalence of 0.21% was recorded from Manipur, Mizoram and Rajasthan states. None of the Latin American countries reported prevalence data.
Our data suggest that podoconiosis is more widespread in the African Region than in the rest of the regions, although this could be related to the fact that most podoconiosis epidemiological research has been focused in the African continent. The assembled dataset confirms that comprehensive podoconiosis control strategies such as promotion of footwear and personal hygiene are urgently needed in endemic parts of Africa. Mapping, active surveillance and a systematic approach to the monitoring of disease burden must accompany the implementation of podoconiosis control activities.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
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•Functionalized cellulose nanocrystals (CNC) exhibit higher thermal stability.•Functionalization of CNC improves the dispersion and interaction with polymer matrix.•Good dispersion ...and interaction lead to nanocomposites with improved properties.
In this study, the effects of cellulose nanocrystals modified with octadecyl isocyanate on rheological, mechanical and degradation properties of nanocomposites based on poly (butylene adipate-co-terephthalate) (PBAT) were reported. Nanocomposites were prepared by melt mixing procedure of PBAT with 3, 5 and 7 wt% cellulose nanocrystals. The increase of PBAT-based nanocomposites mechanical strength was discussed as a function of the cellulose nanocrystals surface chemistry, and the optimal amount of nanofillers in the nanocomposites, whereas the biodegradation rate of the polymer was related to the cellulose nanocrystals hydrophobicity. The study here presented promotes further understanding of cellulose nanocrystals functionalization and its effect on the overall properties of polymeric nanocomposites.
Background Neglected Tropical Diseases (NTDs) disproportionately affect marginalised groups within impoverished communities, conferring devastating physical, financial and psychosocial effects. ...Skin-NTDs (SNTDs) are uniquely stigmatising due to their visible nature, rendering affected individuals vulnerable to psychosocial risk and the associated decline in social participation, quality of life and mental health. In response to knowledge gaps identified by current global efforts for integrated control of SNTDs this review gathers existing evidence on the psychosocial effects of SNTDs, with consideration given to the influence of gender. Methods The study protocol is registered with PROSPERO (CRD42022336676). Data was collected from Embase, Global Health, Medline and Web of Science, with additional articles identified through Google Scholar and bibliography tracking. Qualitative studies published in English between 2005 and 2024 reporting men’s and women’s experiences with SNTDs were searched. Appropriate data from each included study were inputted into NVivo software to facilitate thematic synthesis. Descriptive and analytic themes were generated through line-by-line coding using an inductive approach. Results 27 articles of high and moderate quality were included. They pertained to buruli ulcer, cutaneous leishmaniasis, leprosy, lymphatic filariasis, tungiasis, onchocerciasis, schistosomiasis and podoconiosis. Men and women across SNTDs and contexts reported debilitating physical symptoms which impaired their ability to work, socialise and carry out usual daily activities. Some felt (at least initially) well supported by partners and relatives, whereas most experienced avoidance, abandonment and even violence, with women incurring worse SNTD-related social consequences. Many men and most women experienced stigma, with discriminatory behaviours largely attributed to fear of infection, decreased ability to perform gender-specific daily activities, and the perceived association between SNTDs and sinfulness. Self-reported impacts of SNTDs on men’s and women’s mental wellbeing included low mood, anxiety, low self-esteem, and suicidal ideation. Disease-specific knowledge, early treatment, social support, and disease acceptance were mentioned as protective factors. Conclusion SNTDs cause significant psychosocial harms, particularly for women. Implementing myth-busting and contact-based educational campaigns and improving access to treatment and to livelihood opportunities and social protection schemes for men and women with a SNTD will help prevent and mitigate these.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Unlike other fluoride-based caries preventive agents, silver diamine fluoride (SDF) can simultaneously prevent and arrest coronal and root dentine caries. The profound clinical success of SDF has ...drawn many clinicians and researchers to study the mechanism of SDF in arresting dentine caries. This critical review discusses how silver and fluoride contribute to caries arrest, in terms of their effects on bacteria as well as on the mineral and organic content of dentine. Silver interacts with bacterial cell membrane and bacterial enzymes, which can inhibit bacterial growth. Silver can also dope into hydroxyapatite and have an antibacterial effect on silver-doped hydroxyapatite. Furthermore, silver is also a strong inhibitor of cathepsins and inhibits dentine collagen degradation. Early studies proposed that silver hardened caries lesions by forming silver phosphate. However, recent studies found that little silver phosphate remained on the arrested dentine lesion. The principal silver precipitate was silver chloride, which could not contribute to the significant hardening of the arrested lesions. On the other hand, fluoride enhances mineral formation by forming fluorohydroxyapatite with reduced solubility. A significant increase in microhardness occurs with an elevated level of calcium and phosphorus but not silver on the surface layer of the arrested dentine caries lesion following SDF treatment. Fluoride also inhibits matrix metalloproteinases activities and therefore inhibits dentine collagen degradation. The combination of silver and fluoride in an alkaline solution has a synergistic effect in arresting dentine caries. The alkaline property of SDF provides an unfavorable environment for collagen enzyme activation. Understanding the mechanisms of SDF in arresting dentine caries helps clinicians to develop appropriate protocols for the use of SDF in clinical care.
Karrikins (KARs) are butenolides found in smoke that can influence germination and seedling development of many plants. The KAR signaling mechanism is hypothesized to be very similar to that of the ...plant hormone strigolactone (SL). Both pathways require the F-box protein MORE AXILLARY GROWTH2 (MAX2), and other core signaling components have shared ancestry. Putatively, KAR activates the receptor KARRIKIN INSENSITIVE2 (KAI2), triggering its association with the E3 ubiquitin ligase complex SCF
and downstream targets SUPPRESSOR OF MAX2 1 (SMAX1) and SMAX1-LIKE2 (SMXL2). Polyubiquitination and proteolysis of SMAX1 and SMXL2 then enable growth responses to KAR. However, many of the assumptions of this model have not been demonstrated. Therefore, we investigated the posttranslational regulation of SMAX1 from the model plant Arabidopsis (
). We find evidence that SMAX1 is degraded by KAI2-SCF
but is also subject to MAX2-independent turnover. We identify SMAX1 domains that are responsible for its nuclear localization, KAR-induced degradation, association with KAI2, and ability to interact with other SMXL proteins. KAI2 undergoes MAX2-independent degradation after KAR treatment, which we propose results from its association with SMAX1 and SMXL2. Finally, we discover an SMXL domain that mediates receptor-target interaction preferences in KAR and SL signaling, laying the foundation for understanding how these highly similar pathways evolved to fulfill different roles.
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