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Journal of Periodontology Jan 2021The peri-implant soft tissue phenotype (PSP) encompasses the keratinized mucosa width (KMW), mucosal thickness (MT), and supracrestal tissue height (STH). Numerous... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The peri-implant soft tissue phenotype (PSP) encompasses the keratinized mucosa width (KMW), mucosal thickness (MT), and supracrestal tissue height (STH). Numerous approaches to augment soft tissue volume around endosseous dental implants have been investigated. To what extent PSP modification is beneficial for peri-implant health has been subject of debate in the field of implant dentistry. The aim of this systematic review was to analyze the evidence regarding the efficacy of soft tissue augmentation procedures aimed at modifying the PSP and their impact on peri-implant health.
METHODS
A comprehensive search was performed to identify clinical studies that involved soft tissue augmentation around dental implants and reported findings on KMW, MT, and/or STH changes. The effect of the intervention on peri-implant health was also assessed. Selected articles were classified based on the general type of surgical approach to increase PSP, either bilaminar or an apically positioned flap (APF) technique. A network meta-analysis including only randomized-controlled trials (RCTs) reporting on PSP outcomes was conducted to assess and compare different techniques.
RESULTS
A total of 52 articles were included in the qualitative analysis, and 23 RCTs were included as part of the network meta-analysis. Sixteen RCTs reported the outcomes of PSP modification therapy with bilaminar techniques, whereas 7 involved the use of APF. The analysis showed that bilaminar techniques in combination with soft tissue grafts (connective tissue graft [CTG], collagen matrix [CM], and acellular dermal matrix [ADM]) resulted in a significant increase in MT compared to non-augmented sites. In particular, CTG and ADM were associated with higher MT gain as compared to CM and non-augmented sites. However, no significant differences in KMW were observed across different bilaminar techniques. PSP modification via a bilaminar approach utilizing either CTG or CM showed beneficial effects on marginal bone level stability. APF-based approaches in combination with free gingival graft (FGG), CTG, CM, or ADM showed a significant KMW gain compared to non-augmented sites. However, compared to APF alone, only FGG exhibited a significantly higher KMW gain. APF with any evaluated soft tissue graft was associated with with reduction of probing depth, soft tissue dehiscence and plaque index compared to non-augmented sites compared to non-augmented sites. The evidence regarding the effect of PSP modification via APF-based approaches on peri-implant marginal bone loss or preservation is inconclusive.
CONCLUSIONS
Bilaminar approach involving CTG or ADM obtained the highest amount of MT gain, whereas APF in combination with FGG was the most effective technique for increasing KMW. KMW augmentation via APF was associated with a significant reduction in probing depth, soft tissue dehiscence and plaque index, regardless of the soft tissue grafting material employed, whereas bilaminar techniques with CTG or CM showed beneficial effects on marginal bone level stability.
Topics: Connective Tissue; Dental Implants; Gingiva; Network Meta-Analysis; Phenotype
PubMed: 32710810
DOI: 10.1002/JPER.19-0716 -
Neuroepidemiology 2015Relapses (episodic exacerbations of neurological signs or symptoms) are a defining feature of relapsing-remitting multiple sclerosis (MS), the most prevalent MS... (Review)
Review
Relapses (episodic exacerbations of neurological signs or symptoms) are a defining feature of relapsing-remitting multiple sclerosis (MS), the most prevalent MS phenotype. While their diagnostic value relates predominantly to the definition of clinically definite MS, their prognostic value is determined by their relatively high associated risk of incomplete remission resulting in residual disability. The mechanisms governing a relapse incidence are unknown, but numerous modifiers of relapse risk have been described, including demographic and clinical characteristics, many of which represent opportunities for improved disease management. Also relapse phenotypes have been associated with patient and disease characteristics and an individual predisposition to certain phenotypic presentations may imply individual neuroanatomical disease patterns. While immunomodulatory therapies and corticosteroids represent the mainstay of relapse prevention and acute management, respectively, their effect has only been partial and further search for more efficient relapse therapies is warranted. Other areas of research include pathophysiology and determinants of relapse incidence, recurrence and phenotypes, including the characteristics of the relapsing and non-relapsing multiple sclerosis variants and their responsiveness to therapies.
Topics: Disease Progression; Female; Humans; Male; Multiple Sclerosis, Relapsing-Remitting; Phenotype; Prognosis; Recurrence; Risk Factors
PubMed: 25997994
DOI: 10.1159/000382130 -
Human Reproduction (Oxford, England) Dec 2016What is the reported overall prevalence of polycystic ovary syndrome (PCOS) according to the criteria of the National Institutes of Health (NIH), Rotterdam or the... (Meta-Analysis)
Meta-Analysis Review
STUDY QUESTION
What is the reported overall prevalence of polycystic ovary syndrome (PCOS) according to the criteria of the National Institutes of Health (NIH), Rotterdam or the Androgen Excess and PCOS Society (AE-PCOS Society)?
SUMMARY ANSWER
The reported overall prevalence of PCOS (95% CI) according to diagnostic criteria of the NIH, Rotterdam and the AE-PCOS Society is 6% (5-8%, n = 18 trials), 10% (8-13%, n = 15 trials) and 10% (7-13%, n = 10 trials), respectively.
WHAT IS ALREADY KNOWN
PCOS is the most common endocrine disorder among women of reproductive age. Although many studies have investigated the prevalence of PCOS, there are discrepancies in their results, in part due to the use of various definitions of the syndrome and its subphenotypes, differences between study cohorts, ethnicities, and types of recruitment and sampling.
STUDY DESIGN, SIZE, DURATION
A systematic review and meta-analysis were performed on all published studies that have reported the prevalence of PCOS according to at least one subset of diagnostic criteria.
PARTICIPANTS/MATERIALS, SETTING, METHODS
To identify relevant studies based on the PRISMA statement, PubMed and Ovid databases were searched up to September 2015 by two blind investigators using the terms 'PCOS', 'polycystic ovarian disease', 'Stein Leventhal syndrome', 'Androgen Excess Society', 'National Institute of Health', 'Rotterdam', 'ESHRE/ASRM', 'criteria' and 'prevalence'. Articles that represented the prevalence of PCOS according to at least one subset of diagnostic criteria were included. Exclusion criteria were a focus on adolescent subjects, an absence of data on prevalence, inappropriate design or non-English reporting. An appraisal tool to evaluate the methodological quality of the available studies was generated by the authors.
MAIN RESULTS AND THE ROLE OF CHANCE
A total of 55 reports remained following screening of the abstracts and text for the subject of the study. Of these, 24 articles were eligible and evaluated for qualitative and quantitative synthesis. Since heterogeneity was observed among studies, a random-effects model was used to estimate the prevalence and its 95% CI. The proportions of PCOS prevalence (95% CI) according to the diagnostic criteria of NIH, Rotterdam and AE-PCOS Society were 6% (5-8%, n = 18 trials), 10% (8-13%, n = 15 trials) and 10% (7-13%, n = 10 trials), respectively. When only unselected population studies were included, the given rates were 6% (5-8%, n = 3 trials), 9% (7-12%, n = 6 trials) and 10% (7-14%, n = 3 trials). The respective proportions for hirsutism, hyperandrogenaemia, polycystic ovaries (PCO) and oligo-anovulation were 13% (8-20%, n = 14 trials), 11% (8-15%, n = 9 trials), 28% (22-35%, n = 12 trials) and 15% (12-18%, n = 19 trials), respectively.
LIMITATIONS, REASONS FOR CAUTION
The effects of ethnic differences, particularly, on the presence or severity of hirsutism cannot be ruled out in any way. In addition, there was a lack of standardization in defining phenotypes of the syndrome and selection bias was evident in most of the studies regarding recruitment of the cohorts.
WIDER IMPLICATIONS OF THE FINDINGS
Geographical differences in frequencies of the components of the syndrome, such as oligo-anovulation and clinical/biochemical androgen excess, must be taken into account in the development and implementation of regional diagnostic and precision treatment strategies. Further efforts and resources are required to increase standardization of the methods and comparability of the study results on prevalence and phenotypic characterization of PCOS around the globe.
STUDY FUNDING/COMPETING INTERESTS
No funding to declare. The authors have no conflicts of interest to declare.
REGISTRATION NUMBER
None.
Topics: Female; Humans; Phenotype; Polycystic Ovary Syndrome; Prevalence
PubMed: 27664216
DOI: 10.1093/humrep/dew218 -
Journal of the European Academy of... Jun 2022Atopic dermatitis is a heterogeneous disease, accompanied by a wide variation in disease presentation and the potential to identify many phenotypes that may be relevant... (Review)
Review
Atopic dermatitis is a heterogeneous disease, accompanied by a wide variation in disease presentation and the potential to identify many phenotypes that may be relevant for prognosis and treatment. We aimed to systematically review previously reported phenotypes of atopic dermatitis and any characteristics associated with them. Ovid EMBASE, Ovid MEDLINE and Web of Science were searched from inception till 12 February 2021 for studies attempting to classify atopic dermatitis. Primary outcomes are atopic dermatitis phenotypes and characteristics associated with them in subsequent analyses. A secondary outcome is the methodological approach used to derive them. In total, 8511 records were found. By focussing only on certain clinical phenotypes, 186 studies were eligible for inclusion. The majority of studies were hospital-based (59%, 109/186) and cross-sectional (76%, 141/186). The number of included patients ranged from seven to 526 808. Data-driven approaches to identify phenotypes were only used in a minority of studies (7%, 13/186). Ninety-one studies (49%) investigated a phenotype based on disease severity. A phenotype based on disease trajectory, morphology and eczema herpeticum was investigated in 56 (30%), 22 (12%) and 11 (6%) studies respectively. Thirty-six studies (19%) investigated morphological characteristics in other phenotypes. Investigated associated characteristics differed between studies. In conclusion, we present an overview of phenotype definitions used in literature for severity, trajectory, morphology and eczema herpeticum, including associated characteristics. There is a lack of uniform and consistent use of atopic dermatitis phenotypes across studies.
Topics: Cross-Sectional Studies; Dermatitis, Atopic; Eczema; Humans; Kaposi Varicelliform Eruption; Phenotype; Severity of Illness Index
PubMed: 35170821
DOI: 10.1111/jdv.18008 -
European Journal of Heart Failure Dec 2022An algorithm for non-invasive diagnosis of amyloid transthyretin cardiac amyloidosis (ATTR-CA) and novel disease-modifying therapies have prompted an active search for... (Meta-Analysis)
Meta-Analysis
AIMS
An algorithm for non-invasive diagnosis of amyloid transthyretin cardiac amyloidosis (ATTR-CA) and novel disease-modifying therapies have prompted an active search for CA. We examined the prevalence of CA in different settings based on literature data.
METHODS AND RESULTS
We performed a systematic search for screening studies on CA, focusing on the prevalence, sex and age distribution in different clinical settings. The prevalence of CA in different settings was as follows: bone scintigraphy for non-cardiac reasons (n = 5 studies), 1% (95% confidence interval [CI] 0%-1%); heart failure with preserved ejection fraction (n = 6), 12% (95% CI 6%-20%); heart failure with reduced or mildly reduced ejection fraction (n = 2), 10% (95% CI 6%-15%); conduction disorders warranting pacemaker implantation (n = 1), 2% (95% CI 0%-4%); surgery for carpal tunnel syndrome (n = 3), 7% (95% CI 5%-10%); hypertrophic cardiomyopathy phenotype (n = 2), 7% (95% CI 5%-9%); severe aortic stenosis (n = 7), 8% (95% CI 5%-13%); autopsy series of 'unselected' elderly individuals (n = 4), 21% (95% CI 7%-39%). The average age of CA patients in the different settings ranged from 74 to 90 years, and the percentage of men from 50% to 100%. Many patients had ATTR-CA, but the average percentage of patients with amyloid light-chain (AL) CA was up to 18%.
CONCLUSIONS
Searching for CA in specific settings allows to identify a relatively high number of cases who may be eligible for treatment if the diagnosis is unequivocal. ATTR-CA accounts for many cases of CA across the different settings, but AL-CA is not infrequent. Median age at diagnosis falls in the eighth or ninth decades, and many patients diagnosed with CA are women.
Topics: Female; Male; Humans; Heart Failure; Amyloidosis; Amyloid; Phenotype; Ventricular Dysfunction, Left; Cardiomyopathies
PubMed: 35509173
DOI: 10.1002/ejhf.2532 -
Journal of Periodontology Nov 2020The periodontal phenotype consists of the bone morphotype, the keratinized tissue (KT), and gingival thickness (GT). The latter two components, overlying the bone,... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The periodontal phenotype consists of the bone morphotype, the keratinized tissue (KT), and gingival thickness (GT). The latter two components, overlying the bone, constitute the gingival phenotype. Several techniques have been proposed for enhancing or augmenting KT or GT. However, how phenotype modification therapy (PMT) affects periodontal health and whether the obtained outcomes are maintained over time have not been elucidated. The aim of the present review was to summarize the available evidence in regard to the utilized approaches for gingival PMT and assess their comparative efficacy in augmenting KT, GT and in improving periodontal health using autogenous, allogenic, and xenogeneic grafting approaches.
METHODS
A detailed systematic search was performed to identify eligible randomized clinical trials (RCTs) reporting on the changes in GT and KT (primary outcomes). The selected articles were segregated into the type of approach based on having performed a root coverage, or non-root coverage procedure. A network meta-analysis (NMA) was conducted for each approach to assess and compare the outcomes among different treatment arms for the primary outcomes.
RESULTS
A total of 105 eligible RCTs were included. 95 pertaining to root coverage (3,539 treated gingival recessions [GRs]), and 10 for non-root coverage procedures (699 total treated sites). The analysis on root coverage procedures showed that all investigated techniques (the acellular dermal matrix [ADM], collagen matrix [CM], connective tissue graft [CTG]) are able to significantly increase the GT, compared with treatment with flap alone. However, KT was only significantly increased with the use of CTG or ADM. Early post-treatment GT was found to inversely predict future GR. For non-root coverage procedures, only the changes in KT could be analyzed; all investigated treatment groups (ADM, CM, free gingival graft [FGG], living cellular construct [LCC], in combination with an apically positioned flap [APF]), resulted in significantly more KT than treatment with APF alone. Additionally, the augmented GT was shown to be sustained, and KT displayed an incremental increase over time.
CONCLUSIONS
Within its limitations, it was observed that any graft material was able to significantly enhance GT, while KT in root coverage procedures was significantly enhanced with CTG and ADM, and in non-root coverage procedures, with ADM, CM, FGG, and LCC compared with APF alone. The autogenous soft tissue graft (CTG/FGG) proved to be superior in all comparisons for both outcomes of GT and KT.
Topics: Connective Tissue; Gingiva; Gingival Recession; Humans; Network Meta-Analysis; Phenotype; Tooth Root; Treatment Outcome
PubMed: 32392401
DOI: 10.1002/JPER.19-0715 -
JAMA Mar 2002Throughout the past 40 years, a vast and sometimes contradictory literature has accumulated regarding hypertrophic cardiomyopathy (HCM), a genetic cardiac disease caused... (Review)
Review
CONTEXT
Throughout the past 40 years, a vast and sometimes contradictory literature has accumulated regarding hypertrophic cardiomyopathy (HCM), a genetic cardiac disease caused by a variety of mutations in genes encoding sarcomeric proteins and characterized by a broad and expanding clinical spectrum.
OBJECTIVES
To clarify and summarize the relevant clinical issues and to profile rapidly evolving concepts regarding HCM.
DATA SOURCES
Systematic analysis of the relevant HCM literature, accessed through MEDLINE (1966-2000), bibliographies, and interactions with investigators.
STUDY SELECTION AND DATA EXTRACTION
Diverse information was assimilated into a rigorous and objective contemporary description of HCM, affording greatest weight to prospective, controlled, and evidence-based studies.
DATA SYNTHESIS
Hypertrophic cardiomyopathy is a relatively common genetic cardiac disease (1:500 in the general population) that is heterogeneous with respect to disease-causing mutations, presentation, prognosis, and treatment strategies. Visibility attached to HCM relates largely to its recognition as the most common cause of sudden death in the young (including competitive athletes). Clinical diagnosis is by 2-dimensional echocardiographic identification of otherwise unexplained left ventricular wall thickening in the presence of a nondilated cavity. Overall, HCM confers an annual mortality rate of about 1% and in most patients is compatible with little or no disability and normal life expectancy. Subsets with higher mortality or morbidity are linked to the complications of sudden death, progressive heart failure, and atrial fibrillation with embolic stroke. Treatment strategies depend on appropriate patient selection, including drug treatment for exertional dyspnea (beta-blockers, verapamil, disopyramide) and the septal myotomy-myectomy operation, which is the standard of care for severe refractory symptoms associated with marked outflow obstruction; alcohol septal ablation and pacing are alternatives to surgery for selected patients. High-risk patients may be treated effectively for sudden death prevention with the implantable cardioverter-defibrillator.
CONCLUSIONS
Substantial understanding has evolved regarding the epidemiology and clinical course of HCM, as well as novel treatment strategies that may alter its natural history. An appreciation that HCM, although an important cause of death and disability at all ages, does not invariably convey ominous prognosis and is compatible with normal longevity should dictate a large measure of reassurance for many patients.
Topics: Cardiomyopathy, Hypertrophic; Humans; Phenotype; Prognosis; Risk Assessment
PubMed: 11886323
DOI: 10.1001/jama.287.10.1308 -
International Orthodontics Dec 2023The aim of this systematic review (Prospero CRD42022323188) is to investigate whether an association exists in patients with amelogenesis imperfecta (AI) between...
INTRODUCTION
The aim of this systematic review (Prospero CRD42022323188) is to investigate whether an association exists in patients with amelogenesis imperfecta (AI) between occlusal characteristics and genotype on the one hand and enamel structural phenotype on the other.
MATERIAL AND METHODS
Reports up to May 2023 assessing occlusion of individuals with AI were browsed in a systematic search using Medline, Embase, ISI Web of Science, and the grey literature. Randomised control trials, case control studies, and case series specifying both occlusion, assessed by cephalometric or clinical analysis, and genotype or dental phenotype in patients with AI were included without any age limitation. Two authors independently selected the publications and extracted the data in accordance with the PRISMA statement. The risk of bias was assessed with the Critical Appraisal Checklists from the Johanna Briggs Institute.
RESULTS
Twenty-five articles were chosen from the 261 results. Most of the included publications were case series (n=22) and case control studies (n=3). Thirteen studies reported both a genotype (ENAM, FAM83H, FAM20A, DLX3, CNMM4, WDR72) and occlusal diagnostic. The methodological quality of the studies was moderate. All AI phenotypes showed an open bite (OB) rate around 35%, except mixed form. The other malocclusions were not often mentioned. No correlation between occlusal phenotype and genotype or AI phenotype could be identified in patients with AI, as most studies had short occlusal descriptions and small sample sizes.
CONCLUSION
OB malocclusions were more frequently reported in AI. This review highlighted the need for a more accurate description of orofacial features associated with AI, to better clarify the role of amelogenesis genes in the regulation of craniofacial morphogenesis and identify patients requiring orthognathic surgery at an early stage.
Topics: Humans; Amelogenesis Imperfecta; Genotype; Phenotype; Dental Enamel; Malocclusion; Open Bite; Proteins
PubMed: 37494776
DOI: 10.1016/j.ortho.2023.100789 -
Clinical Oral Implants Research Sep 2023To assess the correlation between the periodontal phenotype (PP) and sinus membrane thickness (SMT) in humans. (Review)
Review
AIM
To assess the correlation between the periodontal phenotype (PP) and sinus membrane thickness (SMT) in humans.
METHODS
This review was conducted according to the PRISMA guidelines. Two reviewers independently carried out electronic and manual literature searches of studies published in English, German, and Spanish, from 1970 to September 2022 in four electronic databases, PubMed/Medline, Scopus, Cochrane Library, and Web of Science, in addition to gray literature. Studies that assessed the correlation between PP and SMT in adults (aged 18 years) were included. Methodological quality was evaluated using the Appraisal Tool for Cross-Sectional Studies (AXIS) for articles that met the eligibility criteria.
RESULTS
Six studies, including 510 patients, were considered for qualitative analysis. All included studies were cross-sectional, and the correlation between the PP and SMT was evaluated, finding a positive and high correlation in 83.3% of them, based on a value of ≥0.7. All the included studies were assessed with a high overall risk of bias.
CONCLUSIONS
Periodontal phenotype and sinus membrane thickness are likely correlated. Nevertheless, further standardized studies are required to draw definitive conclusions.
Topics: Adult; Humans; Membranes; Phenotype
PubMed: 37427881
DOI: 10.1111/clr.14121 -
International Journal of Molecular... Oct 2022The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the... (Review)
Review
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the present study is to systematically review the available data on the prevalence of clinical manifestations and to evaluate the correlation between phenotype and genotype in published cases of patients with CTNNB1 Syndrome. Studies were identified by systematic searches of four major databases. Information was collected on patients' genetic mutations, prenatal and neonatal problems, head circumference, muscle tone, EEG and MRI results, dysmorphic features, eye abnormalities, early development, language and comprehension, behavioral characteristics, and additional clinical problems. In addition, the mutations were classified into five groups according to the severity of symptoms. The study showed wide genotypic and phenotypic variability in patients with CTNNB1 Syndrome. The most common moderate-severe phenotype manifested in facial dysmorphisms, microcephaly, various motor disabilities, language and cognitive impairments, and behavioral abnormalities (e.g., autistic-like or aggressive behavior). Nonsense and missense mutations occurring in exons 14 and 15 were classified in the normal clinical outcome category/group because they had presented an otherwise normal phenotype, except for eye abnormalities. A milder phenotype was also observed with missense and nonsense mutations in exon 13. The autosomal dominant CTNNB1 Syndrome encompasses a wide spectrum of clinical features, ranging from normal to severe. While mutations cannot be more generally categorized by location, it is generally observed that the C-terminal protein region (exons 13, 14, 15) correlates with a milder phenotype.
Topics: Pregnancy; Female; Humans; Codon, Nonsense; Phenotype; Intellectual Disability; Syndrome; Genotype; Mutation; Eye Abnormalities; beta Catenin
PubMed: 36293418
DOI: 10.3390/ijms232012564