Hajdu–Cheney Syndrome: A Systematic Review of the Literature Cortés-Martín, Jonathan; Díaz-Rodríguez, Lourdes; Piqueras-Sola, Beatriz ...
International journal of environmental research and public health,
08/2020, Letnik:
17, Številka:
17
Journal Article
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Hajdu–Cheney syndrome (HCS) is a rare genetic disease that causes acroosteolysis and generalized osteoporosis, accompanied by a series of developmental skeletal disorders and multiple clinical and ...radiological manifestations. It has an autosomal dominant inheritance, although there are several sporadic non-hereditary cases. The gene that has been associated with Hajdu-Cheney syndrome is NOTCH2. The described phenotype and clinical signs and symptoms are many, varied, and evolve over time. As few as 50 cases of this disease, for which there is currently no curative treatment, have been reported to date. The main objective of this systematic review was to evaluate the results obtained in research regarding Hajdu–Cheney Syndrome. The findings are reported in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines and were registered on the web PROSPERO under the registration number CRD42020164377. A bibliographic search was carried out using the online databases Orphanet, PubMed, and Scielo; articles from other open access sources were also considered. Finally, 76 articles were included, and after their analysis, we have obtained a series of hypotheses as results that will support further studies on this matter.
Background: the benefits of water are significant during the birth process. Improved maternal experience of labor, less use of epidurals, better pain management, shorter labor, and a greater sense of ...control are observed during the birth process. Objective: This report aims to determine the benefits of hydrotherapy in clinical childbirth approaches and its applicability in pain control. Methods: A meta-analysis of randomized clinical trials selected from various databases with no publication date limits was conducted, comparing groups that did not use hydrotherapy with groups that did during labor. Results: Seven articles met the inclusion criteria, with five articles using hot water immersion and two using hot water shower as hydrotherapy treatments. This study identified 840 participants, with the intervention groups including 417 term pregnant women and the control groups including 423 pregnant women. The effect size of hydrotherapy on pain was calculated using the visual analog scale in five articles and analgesic use in the other two articles. Hydrotherapy significantly reduced pain during labor with a mean difference of −0.97 (95% CI: −1.91 to −0.03; I2 = 97.32%, p < 0.001). The duration of the first stage of labor was not significantly affected, with a mean difference of −0.17 h (95% CI: −0.55 to 0.21; I2 = 56.75%, p = 0.059). Additionally, hydrotherapy did not significantly impact the newborns’ Apgar scores at 5 min, with a mean difference of 0.18 (95% CI: −0.48 to 0.85; I2 = 2.15%, p = 0.939). Conclusions: Hydrotherapy is beneficial for pain control in the first stage of labor and does not increase its duration or negatively affect the Apgar score of newborns.
Introduction: Pain perception, far from being a pathological mechanism, is a crucial protective stimulus to prevent additional injuries. Any disturbance in this complex system poses significant risks ...to individuals, affecting their quality of life and even their survival. Objective: This review aims to explore congenital insensitivity to pain, an extremely rare genetic disorder with an autosomal recessive pattern that results in the inability to perceive pain. We will focus on the well-known subtype, congenital insensitivity to pain with anhidrosis (CIPA). Our research seeks to update existing knowledge through a comprehensive literature review. Methodology: The review employs a systematic literature review, analyzing various sources and scientific documents, primarily emphasizing CIPA. The review follows the PROSPERO protocol, registered under CRD42023394489. The literature search was performed on the Scopus, PubMed, and Cinahl databases. Results: Our review reveals secondary complications associated with CIPA, such as recurrent bone fractures, temperature insensitivity, self-mutilation, and, occasionally, intellectual disabilities. The limited available information underscores the need for expanding our knowledge. Conclusions: In summary, CIPA, particularly, presents a significant medical challenge with adverse impacts on quality of life. Early diagnosis, education for families and healthcare professionals, and appropriate nursing care are essential for effective management. This review highlights the necessity of further research and awareness to enhance support for those affected.
Physical inactivity represents a significant public health challenge globally. Mobile applications, particularly those utilizing augmented reality (AR), have emerged as innovative tools for promoting ...physical activity. However, a systematic evaluation of their efficacy is essential. This systematic review aims to evaluate and synthesize the evidence regarding the effectiveness and benefits of mobile applications with augmented reality in enhancing physical activity and improving health outcomes. A comprehensive search was conducted in Scopus, PubMed, WOS, and the Cochrane Library databases following PRISMA guidelines. Observational and interventional studies evaluating AR mobile applications for physical exercise were included, without restrictions on publication date or language. The search terms included “Mobile Applications”, “Augmented Reality”, “Physical Fitness”, “Exercise Therapy”, and “Health Behavior”. The methodological quality was assessed using the ROBINS tool. The review identified twelve eligible studies encompassing 5,534,661 participants. The findings indicated significant increases in physical activity and improvements in mental health associated with the use of AR applications, such as Pokémon GO. However, potential risk behaviors were also noted. The evidence suggests that AR interventions can effectively promote physical activity and enhance health. Nonetheless, further research is needed to address limitations and optimize their efficacy. Future interventions should be tailored to diverse cultural contexts to maximize benefits and mitigate risks. AR mobile applications hold promise for promoting physical activity and improving health outcomes. Strategies to optimize their effectiveness and address identified risks should be explored to fully realize their potential.
The use of hydrotherapy during childbirth has gained relevance due to the demand for natural childbirth and greater respect for the woman's choice. Studies have shown benefits such as less use of ...epidural analgesia, increased ability to cope with pain, shorter labor, and a better overall birth experience.
The main objective of this study was to generate further evidence on maternal and birth outcomes associated with the use of hydrotherapy during labor, specifically aiming to describe the effects of water immersion during all stages of labor (first, second, and third) on women.
A retrospective cohort study was carried out on a random sample of women who gave birth at the Costa del Sol Hospital between January 2010 and December 2020. The calculated sample size was 377 women and the data were extracted from their partograms. After data extraction, two groups were formed: one group used hydrotherapy during childbirth (
= 124), while the other group included women who did not use hydrotherapy during the childbirth process (
= 253).
The results highlight significant differences in pain perception, analgesia use, types of labor, and delivery times between the two groups. Women who did not use hydrotherapy reported higher pain perception, with a median (IQR) of 8 (7-9) on a numerical scale, compared to a median (IQR) of 6 (5-7) for the hydrotherapy group. Furthermore, the group without hydrotherapy required epidural analgesia in 40% of cases, while in the hydrotherapy group, it was only necessary in 20%. In terms of the type of delivery, the hydrotherapy group had more spontaneous vaginal deliveries compared to the non-hydrotherapy group, which had more operative vaginal deliveries. The overall duration of labor was longer in the hydrotherapy group, especially in women who arrived at the hospital late in labor.
Hydrotherapy is associated with a longer time to delivery. Women with a higher pain tolerance tend to opt for hydrotherapy instead of epidural analgesia.
Gestational diabetes mellitus (GDM) is defined as hyperglycaemia first detected at any time during pregnancy with values lower than those determined by the WHO for diabetes diagnosis in adults. This ...pathology, with a worldwide prevalence of 13.4%, causes significant maternal and foetal risks. The first line of treatment consists of maintaining normo-glycaemia through an adequate diet and lifestyle changes. The aim is to synthesize the scientific evidence updating the nutritional recommendations for the effective management of GDM. A systematic review of the scientific literature was conducted following the PRISMA guidelines. Randomized clinical trials published within the last five years and providing information on nutritional recommendations to achieve an effective management of gestational diabetes were selected. The databases searched were PubMed, the WOS Core Collection, SCOPUS, and CINAHL, using the MeSH terms: "Diabetes, Gestational"; "Nutrition Assessment (nutrition*)"; "Diet"; "Eating"; and "Food"; with the Boolean operators "AND" and "OR". The PEDro scale (Physiotherapy Evidence Database) was used to assess the scientific quality of the studies, with a mean score of 8.9, indicating an average good scientific quality. Results: A total of 809 papers were collected, of which, after applying the inclusion and exclusion criteria, 14 randomized clinical trials were selected. Probiotic supplementation and co-supplementation with vitamin D have been found to be the most beneficial options for both mothers with GDM and neonates, but the most effective regimens are not known. Diets enriched with extra virgin olive oil (EVOO) and oat bran, as well as some recommendations focused on carbohydrates also seem effective, as well as diets designed for this group of women with GDM such as "CHOICE". Conclusions: Although there are numerous proposals that have been published in recent years focused on the diet of women with GDM in order to improve their results and those of their children, it is the supplementation with probiotics and the co-supplementation with vitamin D that is most agreed upon as beneficial; however, more research is needed into which protocols are most effective. Other proposals that could also be beneficial should be further studied.
Although there is scientific evidence regarding the use of water immersion during labor, this evidence is primarily focused on the first stage of labor. There is limited scientific evidence on water ...immersion during the second stage of labor.
The objective of this study was to conduct a comprehensive systematic review and synthesis of contemporary evidence related to water birth, with a specific focus on the second stage of labor.
A systematic review of the scientific literature published between January 2018 and October 2023 was carried out. A synthesis of the results was conducted following the Synthesis without Meta-Analysis (SWiM) guidelines. PubMed, Scopus, and the Cochrane Library were utilized as information sources. The search strategy was designed using the keywords "immersion" and "parturition", along with their relevant synonyms. Inclusion criteria encompassed studies employing randomized controlled trials (RCTs), systematic reviews, and quantitative and qualitative approaches focusing on pregnant women undergoing water immersion at any stage of the labor process.
Eleven articles were selected: two systematic reviews (one quantitative and one qualitative), five cohort studies, one case-control study, one cross-sectional observational study, and two qualitative studies. A thorough assessment of the methodology was performed using several specific tools: the Cochrane RoB 2 (Risk of Bias 2) tool for systematic reviews, JBI Critical Appraisal Checklist for Qualitative Research for qualitative studies, STROBE for observational descriptive studies, and CASPe for qualitative studies. The results provided fundamental insights that will contribute to conceptual standardization regarding the effects of water birth on maternal and fetal health. Additionally, a synthesis of the results was performed concerning types of delivery, analgesia use, pain perception, and maternal satisfaction with the water birth experience.
In this study, we conclude that the results regarding delivery types, labor durations, and analgesia use found in the literature, along with statistically significant maternal/fetal effects, are crucial for making recommendations regarding the use of water during labor in any of its stages if the woman desires it safely.
In recent times, research has been conducted on the use of hypnosis during childbirth preparation and its effects on pain, fear, and overall childbirth experience. The main objective of this study ...was to analyze the published scientific literature on the use of hypnotherapy during childbirth preparation and the outcomes achieved during labor. A systematic literature review was conducted following the PRISMA 2020 protocol, with a search performed on the PubMed, Cinahl, Scopus, and WOS databases. Studies meeting inclusion criteria, including randomized controlled trials (RCTs), were evaluated for methodological quality using the PEDro scale. The searches yielded a total of 84 results, from which 7 RCTs of high scientific quality were selected. Each article examined the impact of a hypnosis intervention during pregnancy and the results obtained during labor. The analysis covered the use of epidural anesthesia, pharmacological analgesia during labor, self-reported pain, labor duration, type of delivery, fear of childbirth, and childbirth experience. The results demonstrated benefits in reducing fear and pain during labor, along with an enhancement in the overall childbirth experience. Hypnotherapy can be a valuable resource for reducing fear and pain during labor and improving the lived childbirth experience.
With the aging of the population in developed countries, the number of middle-aged and older women is progressively increasing. During this stage, women suffer from a number of signs and symptoms ...that could be reduced or treated with physical exercise and dietary supplements. The main objective of this study was to analyse the benefits of exercise and dietary supplements during menopause.
A systematic review of the scientific literature was performed according to the PRISMA 2020 protocol, searching the PubMed, Cochrane, Scopus, and WOS databases. Studies that met the inclusion criteria were assessed for methodological quality using the PEDro or AMSTAR-2 scales.
The searches yielded a total of 104 results, of which 10 were selected, with methodological quality ranging from fair to excellent. Each article examined the combination of a dietary supplement plan versus a placebo; plus an exercise routine versus another routine or a sedentary lifestyle. The results showed the benefits of combining a nutritional supplementation plan with an exercise routine during menopause.
The practice of weekly strength and endurance exercises, together with the consumption of certain dietary supplements, may be a good resource for coping with menopause in a healthy way.
Prolonged COVID is a persistent condition following the initial COVID-19 infection, which is characterized by a variety of symptoms that may include fatigue, muscle pain, sleep disturbances, “brain ...fog”, respiratory, cardiovascular, digestive, neurological and dermatological symptoms. Physical therapy has been identified as a crucial aspect of the management of patients with long COVID, as it can help improve symptoms and overall physical function. The investigation of long COVID poses significant challenges due to the diversity and variability of symptoms, lack of clear diagnostic criteria, and limited understanding of the underlying mechanisms. The aim of this study is to conduct a systematic review of studies conducted in patients with long COVID in conjunction with interventions targeting respiratory function, particularly involving physical activity. To this end, we conducted a systematic review to analyze studies conducted on treatment programs for long COVID based on some form of physical activity. The protocol of the review was registered in the PROSPERO website, and the databases PubMed, Scopus, CINAHL and WOS were searched. Of the 62 initial articles, six were included in the review. The results obtained have positive implications for the advancement of physical activity as a therapeutic intervention for individuals with long COVID-19 and the conceptualization of evidence-based treatment protocols. Statistically significant results have been observed in studies of at least 6 weeks duration, in which inspiratory muscle training exercises are proposed. Further research is needed to better understand long COVID and develop effective treatment strategies.
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