scholarly journals Dental Findings in Kabuki Syndrome: A Systematic Review for Dentistry

2020 ◽  
Vol 22 (2) ◽  
pp. 61-69
Author(s):  
Ricardo Barbosa-Lima ◽  
Amanda Lopes ◽  
Juliely N. F. De Moura ◽  
Sabrina N. Ribeiro ◽  
Matheus S. N. T. Cardoso

Kabuki syndrome consists in a series of congenital anomalies involving intellectual disability, hypotonia, and facial and body dysmorphism. In addition to these cardinal signs, craniofacial and dental changes are frequently observed, although they are not fully understood. Thus, the aim of this article is to present the dental findings in patients with Kabuki syndrome. This is a systematic review developed according to the PRISMA protocol. A search strategy with descriptors ("kabuki syndrome" AND "dentistry") was applied to six databases. As inclusion criteria, we selected clinical case reports that addressed dental findings in one or more patients with Kabuki syndrome between 1999 and 2019, without restrictions regarding gender, age or language. Data collection in all databases was performed by a calibrated evaluator and titles, abstracts and full-text studies were systematically analyzed. Eleven case reports that fit the proposed inclusion criteria were found. After the qualitative synthesis, teeth absence or agenesis were the most reported findings, being observed by nine authors. Less frequent dental findings in patients with this syndrome are taurodontism, microdontia, fusion, gemination and conical or screwdriver-shaped teeth. In fact, when any syndrome or genetic condition is related to manifestations of dental interest, the dental surgeon should be able to investigate them, especially teeth agenesis or absence. For this reason, the dentist should be aware of the manifestations of Kabuki syndrome, contributing to patients' understanding and management.

2013 ◽  
Vol 18 (6) ◽  
pp. 100-105 ◽  
Author(s):  
Mariana de Aguiar Bulhões Galvão ◽  
Gladys Cristina Dominguez ◽  
Sérgio Thomaz Tormin ◽  
Alex Akamine ◽  
André Tortamano ◽  
...  

INTRODUCTION: Moyers analysis is widely used for analyzing mixed dentition, however, the accuracy of its theoretical probability tables has been recently questioned. Taking into consideration the fact the mixed dentition analysis is of paramount importance to precisely determine the space needed for alignment of canines and premolars, this research aimed at objectively assessing in the literature such an important step for orthodontic diagnosis. METHODS: A computerized search involving articles published on PubMed and Lilacs between 1990 and September, 2011 was conducted in accordance with the method described in the Cochrane 5.1.0 handbook. RESULTS: The research resulted in a sample composed of 629 articles. The inclusion criteria were: Articles using the Moyers analysis with a sample greater or equal to 40 patients. Conversely, the exclusion criteria were: Dental casts of patients with syndromes or oral cleft, researches conducted with a literature review, only, or clinical case reports and researches conducted before 1990. For this systematic review, 19 articles were selected. CONCLUSION: Based on the literature available, we can conclude that the Moyers mixed dentition analysis must be carefully used, since the majority of the articles analyzed showed that the probability of 75% was not as accurate as expected, leading to the need of adapting the probability levels depending on the study population.


2021 ◽  
Vol 5 (Supplement_2) ◽  
pp. 1182-1182
Author(s):  
Som Singh ◽  
Fahad Qureshi ◽  
Alexander Nadeau ◽  
Shipra Singh

Abstract Objectives Recent growth in the commercial use of probiotic supplementation has led to an increased demand for investigation behind complications secondary to probiotic use. Of note, there is a vast amount of literature documenting a relationship between onset of infective endocarditis and probiotic supplementation, but the symptomology and treatment interventions can vary. The purpose of this study is to perform a review of recently reported cases of infective endocarditis secondary to probiotic microorganisms for epidemiology and treatment interventions. Methods A systematic review of literature was performed on MEDLINE for infective endocarditis secondary to probiotic microorganism case studies, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and checklist. Statistical significance was set at P < 0.05. Results Each case was reviewed for the inclusion criteria, which were the following: English language, case reports, full-text, publication within 6 years, pertained to probiotic-related endocarditis, and peer-reviewed. To further ensure that all appropriate studies were identified, the reference list of each identified study was also reviewed, and no further articles met the inclusion criteria. The final analysis included in the qualitative synthesis was 6 patients. Patient cases of infective endocarditis were between 2018 to 2020. Among the adult cohort, the average age of patients was 53.2 ± 17. The most prevalent bacterial culture among the adult cohort was Lactobacillus rhamnoses (80%). The onset of patient symptoms ranged among the adult cohort between 6 months to <1 month. Past medical histories were significant for various comorbidities unique to each patient including diabetes and heritable genetic mutations. Among the patients which underwent aortic valve replacement, there was variable improvement in ejection fraction. Conclusions Healthcare providers ought to be aware to screen for Lactobacillus rhamnoses as a common pathogen of probiotic infective endocarditis. This study has inconclusive evidence to suggest that decreased ejection fraction in probiotic infective endocarditis is different from other primary causes. Funding Sources No funding to disclose. This study was supported by the QUICK Research Institute (Kansas City, MO).


2017 ◽  
Vol 68 (666) ◽  
pp. e28-e35 ◽  
Author(s):  
Emma Harte ◽  
Calum MacLure ◽  
Adam Martin ◽  
Catherine L Saunders ◽  
Catherine Meads ◽  
...  

BackgroundThe NHS Health Check programme is a prevention initiative offering cardiovascular risk assessment and management advice to adults aged 40–74 years across England. Its effectiveness depends on uptake. When it was introduced in 2009, it was anticipated that all those eligible would be invited over a 5-year cycle and 75% of those invited would attend. So far in the current cycle from 2013 to 2018, 33.8% of those eligible have attended, which is equal to 48.5% of those invited to attend. Understanding the reasons why some people do not attend is important to maximise the impact of the programmes.AimTo review why people do not attend NHS Health Checks.Design and settingA systematic review and thematic synthesis of qualitative studies.MethodAn electronic literature search was carried out of MEDLINE, Embase, Health Management Information Consortium, Cumulative Index to Nursing and Allied Health Literature, Global Health, PsycINFO, Web of Science, OpenGrey, the Cochrane Library, NHS Evidence, Google Scholar, Google, ClinicalTrials.gov, and the ISRCTN registry from 1 January 1996 to 9 November 2016, and the reference lists of all included papers were also screened manually. Inclusion criteria were primary research studies that reported the views of people who were eligible for but had not attended an NHS Health Check.ResultsNine studies met the inclusion criteria. Reasons for not attending included lack of awareness or knowledge, misunderstanding the purpose of the NHS Health Check, aversion to preventive medicine, time constraints, difficulties with access to general practices, and doubts regarding pharmacies as appropriate settings.ConclusionThe findings particularly highlight the need for improved communication and publicity around the purpose of the NHS Health Check programme and the personal health benefits of risk factor detection.


2021 ◽  
Vol 4 (2s) ◽  
pp. 78-85
Author(s):  
Tigor Peniel Simanjuntak ◽  
◽  
Angela Putri Kakerissa ◽  
Grady Ivan Kurniawan

Abstract Objective to evaluate antiviral treatment, duration, and side effects on pregnant women based on gestational age and severity of COVID-19 infection. Method: a systematic review of antiviral treatment, duration, and side effects on pregnant women based on gestational age and severity of COVID-19 infection. Systematic review was conducted following the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) Statement. Result 948 papers accessed through Pubmed, Scopus, Science Direct, Cohcrane, and other with keywords “Antiviral”, “Pregnancy” “Pregnant” “Coronavirus” “COVID-19” “SARS-CoV-2”. Duplicate papers were excluded (n=302), topics and abstracts that do not meet the criteria (n=612), and 25 papers that did not meet the inclusion criteria. 9 papers that meet the inclusion criteria (case reports and cohort retrospective case study) discussed 20 pregnant women with COVID-19 infection (16 moderate and severe cases received Remdesivir, 3 moderate and mild cases received Lopinavir-ritonavir combination, and 1 moderate case received Arbidol). Conclusion, remdesivir is an antiviral frequently used in pregnancy on trimester II and III with severe COVID-19 infection with a duration of treatment of 5-10 days. Remdesivir should be monitored because some show side effects of increasing liver function. Key word: Antiviral, Pregnant, COVID-19


Author(s):  
Leonardo Bonini Fischetti ◽  
Julia Zaccarelli Magalhães ◽  
André Rinaldi Fukushima ◽  
Paula Waziry ◽  
Esther Lopes Ricci

Kabuki Syndrome is rare and poorly documented, initially mentioned by Niikawa and Kuroki in 1981. The prevalence of the syndrome among live births is 1:32,000. Case reports are now available, which correlates to improved techniques for accurate diagnosis. This study focused on a systematic comparative review of the phenotypes of individuals with Kabuki Syndrome, with the purpose to facilitate diagnosis. The systematic review was done with a bibliographic survey of case studies using the following databases: Pubmed, Science Direct and Google Scholar, in conjunction with the following key-words: Kabuki syndrome, phenotype, KMT2D and case report. The literature shows that patients with this syndrome present five main characteristics, besides several types of secondary phenotypes. These characteristics present variations in permeability as well as expressivity of some genes in individuals, therefore, a characterization through phenotype alone becomes limited, making it necessary to perform genetic analysis for differential diagnosis. In order to increase the knowledge and elucidate mechanisms of Kabuki syndrome, we suggest further studies that utilize animal models.


2019 ◽  
Vol 36 (04) ◽  
pp. 261-270
Author(s):  
Yasser Al Omran ◽  
Ali Abdall-Razak ◽  
Catrin Sohrabi ◽  
Tiffanie-Marie Borg ◽  
Hayat Nadama ◽  
...  

Abstract Background Augmented reality (AR) uses a set of technologies that overlays digital information into the real world, giving the user access to both digital and real-world environments in congruity. AR may be specifically fruitful in reconstructive microsurgery due to the dynamic nature of surgeries performed and the small structures encountered in these operations. The aim of this study was to conduct a high-quality preferred reporting items for systematic reviews and meta-analyses (PRISMA) and assessment of multiple systematic reviews 2 (AMSTAR 2) compliant systematic review evaluating the use of AR in reconstructive microsurgery. Methods A systematic literature search of Medline, EMBASE, and Web of Science databases was performed using appropriate search terms to identify all applications of AR in reconstructive microsurgery from inception to December 2018. Articles that did not meet the objectives of the study were excluded. A qualitative synthesis was performed of those articles that met the inclusion criteria. Results A total of 686 articles were identified from title and abstract review. Five studies met the inclusion criteria. Three of the studies used head-mounted displays, one study used a display monitor, and one study demonstrated AR using spatial navigation technology. The augmented reality microsurgery score was developed and applied to each of the AR technologies and scores ranged from 8 to 12. Conclusion Although higher quality studies reviewing the use of AR in reconstructive microsurgery is needed, the feasibility of AR in reconstructive microsurgery has been demonstrated across different subspecialties of plastic surgery. AR applications, that are reproducible, user-friendly, and have clear benefit to the surgeon and patient, have the greatest potential utility. Further research is required to validate its use and overcome the barriers to its implementation.


2020 ◽  
Vol 14 (1) ◽  
pp. 1-13 ◽  
Author(s):  
Cassandra E.L. Fairhead ◽  
Alexander Hampson ◽  
Louis Dwyer-Hemmings ◽  
Nikhil Vasdev

Background: It is estimated that between 50 and 89% of non-gonococcal urethritis is not caused by Chlamydia trachomatis. Associations between non-chlamydial non-gonococcal urethritis (NCNGU) with balanoposthitis, epididymo-orchitis and reactive arthritis have been suggested, but evidence to support these often-theoretical relationships is sparse and further investigation is called for. Concerns over increasing antimicrobial resistance has rendered the need for clarity over this question ever more pressing in recent years. A review of the current evidence on the complications of NCNGU in men is therefore urgently warranted. Objective: This systematic review summarizes and evaluates the available evidence that NCNGU, whether symptomatic or asymptomatic, causes the significant complications that are already well-recognized to be associated with non-gonococcal urethritis. These significant complications are epididymo-orchitis, balanoposthitis, and sexually-acquired reactive arthritis (Reiter's syndrome) including arthritis or conjunctivitis. Summary: We conducted a systematic review and qualitative synthesis using the Preferred Reporting Items for Systematic Reviews and Meta-Analysis framework. Five databases (PubMed, EMBASE, Cumulative Index to Nursing and Allied Health Literature, PsycINFO, and British Nursing Index) were searched. We included studies that measured clinical outcome after diagnosis of NCNGU in men. Bias was assessed using variations of the Newcastle-Ottawa scale. Data were extracted and entered into a pre-written data abstraction proforma. Seven peer-review studies were included. This included 2 retrospective cohort studies, 1 case series, 2 case reports and 2 cross-sectional studies. The studies described and analyzed 3 types of complication: balanitis, posthitis and/or meatitis; reactive arthritis and/or conjunctivitis; and epididymitis. All studies reported one or more complications. Key Messages: This review identifies an important avenue for future research: while the available evidence suggests that NCNGU has the potential to cause significant complications in men, with the strongest evidence existing for balanitis, posthitis and/or meatitis, the nature and significance of these relationships is far from clear. The findings of this review suggest that prospective, adequately powered research into whether there is a causal link between NCNGU and significant clinical complications in men would be highly worthwhile. The findings of this review raise important questions about the utility of the term NCNGU in research and clinical practice.


Author(s):  
Cristalle Soman ◽  
Shahad Ramzi Mohammed Alghamdi ◽  
Faisal Nahar M. Alazemi ◽  
Abdulaziz Ahmad Abdullah Alghamdi

AbstractCyberknife radiosurgery is a frameless stereotactic robotic radiosurgery which has shown to deliver better treatment outcomes in the treatment of advanced head and neck (H&N) carcinomas, especially in previously irradiated and recurrent cases. The aim of the study was to perform a systematic review of the available data on the outcomes of Cyberknife radiosurgery for treatment of head and neck cancer and to evaluate its collective outcomes. This systematic review was registered with the university with the registration no. FRP/2019/63 and was approved by the Institutional Review Board (RC/IRB/2019/132). Literature search was performed in the following: PubMed, Science direct, SciELO, MyScienceWork, Microsoft Academ EMBASE, Directory of Open Access Journals, and Cochrane databases with the keywords “Cyberknife,” “oral cancer,” “oropharyngeal cancer,” and “head and neck cancer” and data was extracted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The records identified were 147 manuscripts. Excluded articles included 5 duplicate articles, 33 abstracts, 101 full text articles due to being off-topic, case reports, review, non-English, 1 survey, and 2 other articles containing data extracted from a main study which was already included. A total of 5 articles were evaluated for qualitative synthesis. The mean dose of Cyberknife radiosurgery delivered for previously irradiated recurrent H&N carcinoma patients was 34.57 Gy, with a mean sample size of 5 studied during the period of 2000 to 2016. The available evidence from the systematic review indicates that Cyberknife can be an efficacious treatment option for recurrent previously irradiated H&N carcinoma, especially for nonresectable tumors. There is paucity of homogenous data and studies in this arena; hence, meta-analysis could not be performed. Further standardized studies are essential, especially where the treatment of H&N carcinoma is considered.


2018 ◽  
Vol 1 (21;1) ◽  
pp. 111-120 ◽  
Author(s):  
Artemios K. Artemiadis

Background: Neuropathic pain (NP) is a common symptom caused by lesions or diseases of the somatosensory nervous system. Acute/subacute peripheral neuropathies (APN) are rare, however can be particularly painful. Objectives: The aim of this systematic review was to estimate the incidence of NP in APN and overview the various etiologies of such neuropathies. Study Design: Systematic review. Setting: Medline search. Methods: We hand-searched Medline for observational studies published between 1995 and 2017. Results: Our search strategy identified 1,400 papers. Of these, 70 met our inclusion criteria and were included in this review. Out of a total of 2,341 patients, 1,139 patients were diagnosed with NP (pooled incidence of NP 48.7%). In Guillain-Barré syndrome (GBS), the commonest cause of APN, the pooled estimate of NP was 34.8%. Other causes of painful APN include immunemediated, vasculitic, metabolic, nutritional, toxic, paraneoplastic, and infectious. Limitations: An important limitation was that GBS accounted for the majority of patients with APN, as such the calculated incidence reflected mainly this disease entity. Another important limitation was that very few studies targeted primarily NP. Thus, it is highly likely that observational studies reporting NP were missed. Finally there could always be a publication bias due to underreporting and gray literature. Conclusions: NP is a cardinal manifestation of APN. The use of validated diagnostic tools and accepted diagnostic criteria of NP is recommended for both clinical and research purposes. Key words: Neuropathic, pain, acute, subacute, neuropathy, polyneuropathy, frequency, incidence


2021 ◽  
Author(s):  
A. Becerra-Bolaños ◽  
V. Muiño-Palomar ◽  
S. Cabrera-Doreste ◽  
A. Rodríguez-Pérez

AbstractPerioperative management in patients suffering from systemic mastocytosis is challenging. Most recommendations regarding anesthetic management in these patients are based on clinical reports, and there are controversies about the use of rocuronium and sugammadex. We present a case report of a patient with systemic mastocytosis who was given sugammadex for rocuronium reversal. Tryptase levels were monitored during the first postoperative 24 h, without evidence of elevation. We also performed a systematic review to provide an overview of current evidence regarding the safety of using sugammadex in patients suffering from systemic mastocytosis. The search strategy included PubMed and Google Scholar. All studies published up to and including January 2021 concerning anesthetic management in systemic mastocytosis were included. Of the 122 articles located, 9 articles were included: 2 reviews and 7 case reports. Data from reviewed studies confirm that sugammadex can safely be administered in patients suffering from systemic mastocytosis.


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