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BACKGROUND: Patients with von Hippel-Lindau (VHL) disease are at risk of developing tumors in the eye, brain, kidney, adrenal gland, and other organs based on their gene mutations. The VHL tumor suppressor gene contains pathogenic variants responsible for these events. This meta-analysis aims to investigate the genetic differences among the various types of VHL syndrome and their correlation with the location of mutations (exons and domains) in the VHL gene. METHOD: Papers eligible for publication until September 2023 were identified using the electronic databases of PubMed, Google Scholar, Scopus, and EMBASE. The Random Effect model was utilized to evaluate the genetic differences between type 1 and type 2 VHL syndromes. RESULTS: The prevalence of missense mutations (MSs) was found to be 58.9% in type 1, while it was 88.1% in type 2. Interestingly, the probability of observing MSs in type 1 was 0.42 times lower compared to type 2. The mutation hotspots of the VHL gene were R167Q/W, Y98H, R238W, and S65L, respectively. Although type 2 had a high presentation of Y98H and R238W, it did not have a higher S65L than type 1. The analysis demonstrated a statistically significant higher prevalence of truncated mutations (PTMs) in type 1. Among type 1, large/complete deletions (L/C DELs) were found in 16.9% of cases, whereas in type 2 only 3.7%. This difference was statistically significant with a p-value < 0.001. Overall, the probability of identifying mutations in domain 2 compared to domain 1 was found to be 2.13 times higher in type 1 (p-value < 0.001). Furthermore, the probability of detecting exon 1 in comparison with observing exon 2 in type 1 was 2.11 times higher than type 2 and revealed a statistically significant result (p-value < 0.001). The detection of exon 2 was 2.18 times higher in type 1 (p-value < 0.001). In addition, the likelihood of discovering exon 2 compared with others was significantly lower in type 1 compared with type 2 VHL (OR = 0.63, p-value = 0.015). CONCLUSIONS: We have revealed a comprehensive genetic difference between types 1 and 2 of VHL syndrome. The significant differences in MS, PTMs, L/C DELs, and the location of the mutations between type 1 and type 2 VHL patients in the Asian, European, and American populations emphasize the genetic heterogeneity of the syndrome. These findings may pave the way for the diagnosis, treatment, and further investigation of the mechanisms behind this complex genetic disorder.
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Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau , Enfermedad de von Hippel-Lindau , Humanos , Enfermedad de von Hippel-Lindau/genética , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/genética , Mutación , Mutación Missense , Predisposición Genética a la EnfermedadRESUMEN
Background: Solar lentigines are common hyperpigmented lesions typically appearing after 50 years of age and associated with negative psychological effects in affected individuals. Topical depigmenting products, such as hydroquinone and even the Kligman's formula, are usually ineffective for treating lentigines. Stabilized cysteamine has been recently shown to be as effective as the modified Kligman's formula for treating melasma. In this study, we evaluated the therapeutic effect of a stabilized cysteamine on solar lentigines. Methods: A vehicle-controlled, double-blind, and randomized study was performed on 30 patients with solar lentigines. Stabilized cysteamine or vehicle control creams were applied on solar lentigines on the dorsum of the hands daily for 12 weeks. Clinical measurements with colorimetry and visual analog scale were performed at baseline, 4, 8, and 12 weeks. Results: Statistically significant results were obtained in the cysteamine group versus the vehicle control group. Stabilized cysteamine provided a 40% reduction in colorimetric values (p < 0.002) versus a 2% reduction in the vehicle group (p < 0.405). Cysteamine also provided a 40% reduction in VAS (p < 0.001) versus a 2% reduction in the vehicle group (p < 0.245). Conclusion: Significant improvement of solar lentigines was observed after 12 weeks of application of stabilized cysteamine by all evaluation methods. Stabilized cysteamine represents a highly effective topical treatment for solar lentigines and can be considered as one of the first topical therapies effective on this hyperpigmentary disorder.
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BACKGROUND: Healthcare workers are leading the way in treating patients with coronavirus disease 2019 (COVID-19). Due to the high levels of psychological stress, this group is more likely to experience psychological issues. These psychological problems in healthcare providers include depression, anxiety, insomnia, stress and post-traumatic stress disorder (PTSD). The goal of this systematic review and meta-analysis was to find out how common these problems were in the face of COVID-19. METHODS: On 20 February 2022, systematic searches were conducted in the PubMed, Cochrane Library, Scopus, EMBASE, Science Direct, Web of Science and ProQuest databases. Two authors selected articles based on search keywords. As a last step, articles about the prevalence of psychological problems among healthcare workers in the face of COVID-19 were looked at and analysed for five different outcomes. RESULTS: The initial search yielded 18,609 articles. After reviewing the titles, abstracts and full texts of the articles, 44 were chosen for the final analysis and 29 were subjected to a meta-analysis. Insomnia, anxiety, depression, PTSD and stress are among the psychological issues faced by healthcare workers. Furthermore, the highest pooled prevalence of depression, anxiety, insomnia, PTSD and stress was 36% (95% confidence interval (CI) 24-50%), 47% (95% CI 22-74%), 49% (95% CI 28-70%), 37% (95% CI 19-59%) and 27% (95% CI 6-69%). CONCLUSIONS: In this meta-analysis, insomnia was found to be the most common mental health problem, followed by anxiety, PTSD, depression and stress in healthcare workers in the face of the COVID-19 pandemic. Generally, the pooled prevalence of these mental health problems was higher among physicians, nurses and older staff in the subgroup analysis. As a result, health policymakers and managers of the health care system should think about effective interventions to promote mental health, paying particular attention to these two groups.Key pointsStudies conducted in China reported more mental problems than in other countries.Health policymakers and health system managers should hold training programs to promote healthcare workers' mental health with a particular focus on more vulnerable groups.The prevalence of PTSD, stress, anxiety, depression and insomnia were higher among physicians, nurses and older staff.Health systems at both national and local levels have to take older physicians, nurses and healthcare providers into consideration while designing interventions.
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COVID-19 , Trastornos del Inicio y del Mantenimiento del Sueño , Humanos , COVID-19/epidemiología , Salud Mental , Trastornos del Inicio y del Mantenimiento del Sueño/epidemiología , Pandemias , SARS-CoV-2 , Depresión/epidemiología , Personal de Salud/psicología , Ansiedad/epidemiologíaRESUMEN
As the most common primary intraocular malignancy of childhood, retinoblastoma (RB) has had a complex journey in its management, following a course from enucleation as the first life-saving treatment to numerous globe-salvaging therapies during the last century. Currently, this potentially lethal disease has achieved high survival rates owing to multidisciplinary management and the introduction of neoadjuvant and multimodal chemotherapy. Therefore, the goal of treatment is shifting toward conserving the globe and vision as much as possible. Up until recently, many advanced cases of RB were enucleated primarily; however, targeted chemotherapy via the ophthalmic artery and management of intraocular seeding by local administration of chemotherapeutic agents have revolutionized the globe-conserving therapies. The added benefit of avoiding systemic complications of cytotoxic drugs resulted in these methods gaining popularity, and they are becoming a main part of care in many referral centers. Initially, there were some safety concerns regarding these approaches; however, increasing experience has shown that these modalities are relatively safe procedures and many complications can be averted by changing the choice of the drug and using some prophylactic measures. It is hoped that, in the near future, with advances in early diagnosis and patient-targeted molecular therapies, as well as gene-editing techniques, the patient's vision can be saved even in advanced RB.
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Background: Previous studies have reported that gastrectomy and fundectomy can induce osteopenia. Body fat index is a new index of obesity that shows central obesity and other risks of obesity. Sleeve gastrectomy (SG) is a bariatric surgery and a new technique introduced as subsleeve, which only resected fundus of the stomach. In this study, it has been shown the effect of subsleeve and SG on fat index and bone densitometry in an animal model. Materials and Methods: Rabbits were underlined SG, fundectomy (surgical removal of fundus), or sham-operated (controls without any resection), and after 12 weeks, fat index and bone densitometry were obtained. Results: Our study showed that there was no significant difference between SG and fundectomy groups in bone mass density and fat mass after surgery in comparison with presurgery condition. SG group were associated with lower fat index and bone density, and it showed significantly decrease in weight after 1.5 months. Conclusion: Sub-SG did not show any significant effect on fat index and bone densitometry in comparison with SG. However, we found lower fat index in sleeve group of rabbits, but it was not statistically significant.
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Low uptake of women's cancer screening and its facilitating factors and barriers in Iran has been studied so far but no consensus on factors affecting this low uptake has been stated previously. Nevertheless, facilitating factors and barriers of breast cancer and cervical cancer have been reviewed. In this systematic review, Web of Science, PubMed, EMBASE, Scopus, and Google Scholar were the preferred search engines. In addition, the Persian database of Magiran and SIDs and ISC indexed journals were searched with different combinations of Persian keywords compatible with English search. A hand search of key Iranian journals was also accomplished. Through 964 primarily searched articles, finally, after duplicates being removed, the screen of records, and full-text articles assessed for eligibility, only 12 articles were included in the review. Barriers observed mostly were screening not advised by a physician, having no relevant problems or disease, having no knowledge about the procedure, fear from pain or cancer detection, shame from the procedure, and forget to have screening. Facilitators were less focused than barriers and frequently were identified as advised by healthcare professionals, the perceived necessity for screening, and the important identified risk of cancer acquire. Almost all studies focused on individual and interpersonal barriers and facilitators for screening instead of a holistic view on the utilization of screening programs. In future studies on women's cancer screening, facilitating factors and barriers of both supply (health system provision and policy implications) and demand-side (individual and interpersonal factors) of healthcare provision has been strongly recommended.
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OBJECTIVE: With regard to limitation in national budget, the relevant authorities of healthcare and treatment throughout the globe are seeking the use of available resources in a way that no wastage of money or time-which is, of course, convertible to money-is acceptable. This study sought the opinions of hospital doctors and nurses on those activities at work that wasted their time. METHODS: A questionnaire designed to identify activities that waste time during hospital care was completed based on the review of previous studies and including hospital wastes items. The authors designed a questionnaire, which was filled out by 209 nurses and 30 doctors in the surgery wards in hospitals affiliated to Shiraz University of Medical Sciences (SUMS). The items for time wasting activities were extracted from previous studies, and the reliability of the questionnaire was more than 0.785 using Cronbach's alpha. The response rate was more than 60%. RESULTS: The mean age of the participating nurses and doctors was 30.24 ± 6.85 and 32.77 ± 7.05 years. In all aspects, more time was wasted during the morning and evening shifts in comparison with the night shifts. The activity that was thought to waste time in hospital care the most was paper-based documentation. Preventable wasted time during the shift was 16%-30% in the nurses' view and 18%-34% in the doctors' view. For both nurses and doctors, the highest-rated preventable wasted time was related to time spent waiting in ward for lab data responses, transfer of patients, or delivery of care. CONCLUSION: Hospital working environment is complex, and opportunities for improvement of the efficiency of the nurses' and doctors' workload should be analyzed, case by case, in each hospital and work group. Process change (for the decrease in the wasted time for waiting in wards), simple innovative ways (for the decrease in the wasted time for searching the needed equipment), using hospital information system technology for documentation, communication, and the better design of the wards (to decrease the wasted time due to transfer between the ward and restroom) could be helpful for improving efficiency and for a safer and acceptable delivery of care.
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BACKGROUND AND OBJECTIVE: Primary dysmenorrhea starts simultaneously with menstruation or before it and usually continues for 48-72 h. As a prevalence disorder, it affects about 80-97% of women in the reproductive age. The conventional treatment modalities of primary dysmenorrhea are associated with complications and side effects. In addition, there is a lack of knowledge of the effect of honey on the treatment of primary dysmenorrhea. The objective of this study is to investigate the effect of honey on the severity of pain in women with dysmenorrhea. METHODS: A randomized crossover clinical trial was conducted on 56 female students. Subjects were randomly assigned to two groups. Groups I and II received honey and mefenamic acid in the 'first treatment period', respectively. In the 'second treatment period', the intervention methods were reversed between the groups. Samples recorded the severity of pain during the first 3 days of menstruation. RESULTS: There were no significant differences in the most severe level of pain in the first and second months of the first treatment period, and the first and second months of the second treatment period between the groups. CONCLUSIONS: Honey and the mefenamic acid capsules led to the same amount of pain relief in women with primary dysmenorrhea. Honey is suggested to be used for pain relief due to its lower side effects and pharmacological complications.