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BMC Oral Health Sep 2023Cleft lip and palate (CLP) is the most common facial birth defect worldwide and causes morphological, aesthetic, and functional problems with psychosocial implications... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Cleft lip and palate (CLP) is the most common facial birth defect worldwide and causes morphological, aesthetic, and functional problems with psychosocial implications for an individual's life and well-being. The present systematic review and meta-analysis assessed whether the treatment of CLP impacts the oral health-related quality of life (OHRQoL) in children and adolescents in comparison to healthy controls.
METHODS
We searched MEDLINE/PubMed, EMBASE, and PsycINFO databases using terms related to CLP, and included articles until August 2023. Observational comparison studies that assessed OHRQoL in non-syndromic CLP patients aged 8-19 years with validated scales designed to such aim or scales capable to identify aspects related to oral health compared to healthy controls were included. We used the ROBINS-I tool for risk of bias assessment. A meta-analysis of continuous variables was performed using inverse variance for pooling estimates, Standardized Mean Difference (SMD) as a summary measure, with random effects model. Heterogeneity was estimated by the I statistics. Sensitivity analyses included subgrouping based on the scale, risk of bias and scale domains. Meta-regression was performed under a mixed-effects model considering the variables type of scale, scale domains and risk of bias.
RESULTS
Fourteen studies were included comprising 1,185 patients with CLP and 1,558 healthy controls. The direction of the effect of OHRQoL favoured the healthy group (-0.92; 95% CI:-1,55;-0,10) and I = 95%. After removing three studies, I dropped to 80%. Meta-regression showed no influence on risk of bias (p = 0.2240) but influence of scale type (p = 0.0375) and scale domains (p < 0.001). The subgroup analysis indicated that the CPQ and COHIP scales presented very discrepant SMD values, despite pointing to the same effect direction. In contrast, the OHIP scale showed a non-significant difference between cases and controls, with estimates much lower than the other two scales. Results also suggest that OHRQoL associated with oral functionality and social well-being is more influential on outcomes than emotional well-being.
CONCLUSION
The global OHRQoL is slightly worst in the CLP patients than control group. The difference between OHRQoL was mainly detected through OHIP. The most affected domains are functional, emotional and social.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO CRD42022336956.
Topics: Adolescent; Child; Humans; Cleft Lip; Quality of Life; Cleft Palate; Health Status
PubMed: 37716942
DOI: 10.1186/s12903-023-03382-4 -
European Archives of... Aug 2023This PRISMA-compliant systematic review aimed to assess risks and benefits of sirolimus treatment for paediatric lymphatic malformations by focusing not only on... (Review)
Review
PURPOSE
This PRISMA-compliant systematic review aimed to assess risks and benefits of sirolimus treatment for paediatric lymphatic malformations by focusing not only on treatment efficacy but also on possible treatment-related adverse events, and treatment combinations with other techniques.
METHODS
Search criteria were applied to MEDLINE, Embase, Web of Science, Scopus, Cochrane Library, and ClinicalTrials.gov databases and included all studies published up to March 2022 reporting paediatric lymphatic malformations treated with sirolimus. We selected all original studies that included treatment outcomes. After the removal of duplicates, selection of abstracts and full-text articles, and quality assessment, we reviewed eligible articles for patient demographics, lymphatic malformation type, size or stage, site, clinical response rates, sirolimus administration route and dose, related adverse events, follow-up time, and concurrent treatments.
RESULTS
Among 153 unique citations, 19 studies were considered eligible, with reported treatment data for 97 paediatric patients. Most studies (n = 9) were case reports. Clinical response was described for 89 patients, in whom 94 mild-to-moderate adverse events were reported. The most frequently administered treatment regimen was oral sirolimus 0.8 mg/m twice a day, with the aim of achieving a blood concentration of 10-15 ng/mL.
CONCLUSION
Despite promising results for sirolimus treatment in lymphatic malformation, the efficacy and safety profile of remains unclear due to the lack of high-quality studies. Systematic reporting of known side effects, especially in younger children, should assist clinicians in minimising treatment-associated risks. At the same time, we advocate for prospective multicentre studies with minimum reporting standards to facilitate improved candidate selection.
Topics: Humans; Child; Sirolimus; Prospective Studies; Treatment Outcome; Neck; Head; Lymphatic Abnormalities; Vascular Malformations
PubMed: 37115326
DOI: 10.1007/s00405-023-07991-1 -
Nigerian Journal of Clinical Practice Sep 2023Dental implants are considered an ideal treatment for a missing single tooth. Immediate loading of implants can hasten the procedure, providing comfort to the patients.... (Review)
Review
Dental implants are considered an ideal treatment for a missing single tooth. Immediate loading of implants can hasten the procedure, providing comfort to the patients. Recently, immediate loading of implants has gained much importance as it helps hasten the procedure and provides more comfort to patients. A previous systematic review published 5 years ago compared the success rates between immediate and conventional loading. There are several factors that influence the success rate of implants that were not discussed in detail in the previous review. Hence, the present systematic review is done to report differences in the outcomes from single implant restorations of missing teeth in the posterior region in patients who were subjected to immediate loading and conventional loading. A follow up for 1 year was done. Electronic databases of Medline, Scopus, and Web of Science were searched for publications in the English Language during May 2021. The search results yielded 306 articles, out of which 225 were excluded based on title and abstract screening. Screening of the remaining 81 full text articles yielded 14 original research articles that satisfied the predefined inclusion criteria. Meta analysis was not possible due to the heterogeneity of the data. The overall success rate of the immediate loading of a single implant is 94.31%. Implants in the maxillary region had a higher survival rate than those in the mandibular region. The age range between 18 and 80 years showed good prognosis and outcomes in older individuals. Good oral hygiene was emphasized for all patients to prevent any secondary conditions or delays in healing.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Humans; Middle Aged; Young Adult; Anodontia; Dental Implants; Dental Prosthesis, Implant-Supported; Immediate Dental Implant Loading; Tooth Loss
PubMed: 37794532
DOI: 10.4103/njcp.njcp_884_22 -
Frontiers in Endocrinology 2023Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital...
BACKGROUND
Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, chest deformities, cryptorchidism in males.
METHODS
In this narrative review, we summarized the available data on puberty and gonadal function in NS subjects and the role of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway in fertility. In addition, we have reported our personal experience on pubertal development and vertical transmission in NS.
CONCLUSIONS
According to the literature and to our experience, NS patients seem to have a delay in puberty onset compared to the physiological timing reported in healthy children. Males with NS seem to be at risk of gonadal dysfunction secondary not only to cryptorchidism but also to other underlying developmental factors including the MAP/MAPK pathway and genetics. Long-term data on a large cohort of males and females with NS are needed to better understand the impact of delayed puberty on adult height, metabolic profile and well-being. The role of genetic counselling and fertility related-issues is crucial.
Topics: Male; Child; Adult; Female; Humans; Noonan Syndrome; Cryptorchidism; Gonads; Puberty; Mitogen-Activated Protein Kinases
PubMed: 37576960
DOI: 10.3389/fendo.2023.1213098 -
Clinical Genetics Sep 2023Tooth eruption is an important and unique biological process during craniofacial development. Both the genetic and environmental factors can interfere with this process.... (Meta-Analysis)
Meta-Analysis Review
Tooth eruption is an important and unique biological process during craniofacial development. Both the genetic and environmental factors can interfere with this process. Here we aimed to find the failure pattern of tooth eruption among five genetic diseases. Both systematic review and meta-analysis were used to identify the genotype-phenotype associations of unerupted teeth. The meta-analysis was based on the characteristics of abnormal tooth eruption in 223 patients with the mutations in PTH1R, RUNX2, COL1A1/2, CLCN7, and FAM20A respectively. We found all the patients presented selective failure of tooth eruption (SFTE). Primary failure of eruption patients with PTH1R mutations showed primary or isolated SFTE1 in the first and second molars (59.3% and 52% respectively). RUNX2 related cleidocranial dysplasia usually had SFTE2 in canines and premolars, while COL1A1/2 related osteogenesis imperfecta mostly caused SFTE3 in the maxillary second molars (22.9%). In CLCN7 related osteopetrosis, the second molars and mandibular first molars were the most affected. While FAM20A related enamel renal syndrome most caused SFTE5 in the second molars (86.2%) and maxillary canines. In conclusion, the SFTE was the common characteristics of most genetic diseases with abnormal isolated or syndromic tooth eruption. The selective pattern of unerupted teeth was gene-dependent. Here we recommend SFTE to classify those genetic unerupted teeth and guide for precise molecular diagnosis and treatment.
Topics: Humans; Tooth Eruption; Tooth, Unerupted; Core Binding Factor Alpha 1 Subunit; Tooth Abnormalities; Phenotype; Genotype; Chloride Channels
PubMed: 37448157
DOI: 10.1111/cge.14400 -
Neuropsychology Review Dec 2023Williams syndrome (WS) is a neurodevelopmental disorder caused by a microdeletion in the q11.23 region of chromosome 7. Recent case series reports and clinical case... (Review)
Review
Williams syndrome (WS) is a neurodevelopmental disorder caused by a microdeletion in the q11.23 region of chromosome 7. Recent case series reports and clinical case studies have suggested that the cognitive, behavioral, emotional, and social profile in WS could depend on the genes involved in the deletion. The objective of this systematic review was to analyze and synthesize the variability of the cognitive and behavioral profile of WS with atypical deletion and its probable relationship with the affected genes. The medical subject headings searched were "Williams syndrome," "genotype," "phenotype," "cognitive profile," and "atypical deletion." The studies included were in English or Spanish, with children and adults, and published between January 2000 and October 2022. Twenty-three studies are reported. The characteristics of the participants, the genes involved, the neuropsychological domains and instruments, and the prevalence of the WS cognitive profile criteria were used for the genotype-phenotype analysis. The genes with a major impact on the cognitive profile of WS were (a) LIMK1 and those belonging to the GTF2I family, the former with a greater influence on visuospatial abilities; (b) GTF2IRD1 and GTF2I, which have an impact on intellectual capacity as well as on visuospatial and social skills; (c) FZD9, BAZ1B, STX1A, and CLIP2, which influence the cognitive profile if other genes are also effected; and (d) GTF2IRD2, which is related to the severity of the effect on visuospatial and social skills, producing a behavioral phenotype like that of the autism spectrum. The review revealed four neuropsychological phenotypes, depending on the genes involved, and established the need for more comprehensive study of the neuropsychological profile of these patients. Based on the results found, we propose a model for the investigation of and clinical approach to the WS neuropsychological phenotype.
Topics: Child; Adult; Humans; Williams Syndrome; Genotype; Phenotype; Neurodevelopmental Disorders; Transcription Factors, TFIII; Lim Kinases; Bromodomain Containing Proteins; Transcription Factors
PubMed: 36520254
DOI: 10.1007/s11065-022-09571-2 -
Oral Surgery, Oral Medicine, Oral... Dec 2023We examined the range, nature, and extent of research conducted regarding the oral and dental implications of hereditary hemorrhagic telangiectasia (HHT) to identify... (Review)
Review
OBJECTIVE
We examined the range, nature, and extent of research conducted regarding the oral and dental implications of hereditary hemorrhagic telangiectasia (HHT) to identify gaps in the research and knowledge of the field.
STUDY DESIGN
We performed a scoping review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews and 2017 Guidance for the Conduct of Joanna Briggs Institute Scoping Reviews. We searched the MEDLINE and Web of Science databases for all full-text articles published in English from December 1946 to October 2022.
RESULTS
We identified 103 articles describing oral and dental considerations of patients with HHT, primarily case reports. Most reported oral telangiectasias of the tongue, lips, and palate. Many reported management of bleeding and the use or recommendation of prophylactic antibiotics before dental procedures.
CONCLUSIONS
Oral telangiectasias are commonly found in patients with hereditary hemorrhagic telangiectasia, and dental professionals may be the first to diagnose it in their patients. Early detection and diagnosis are important to prevent potentially fatal outcomes, and prophylactic antibiotics before procedures may be warranted.
Topics: Humans; Telangiectasia, Hereditary Hemorrhagic; Telangiectasis; Hemorrhage; Anti-Bacterial Agents
PubMed: 37752017
DOI: 10.1016/j.oooo.2023.08.001 -
The Journal of Foot and Ankle Surgery :... 2023Estimates of pes planus ("flatfoot") prevalence vary considerably across studies. Moreover, there is uncertainty over which factors are associated with the pes planus... (Review)
Review
Estimates of pes planus ("flatfoot") prevalence vary considerably across studies. Moreover, there is uncertainty over which factors are associated with the pes planus prevalence. We aimed to systematically review the prevalence and clinical factors associated with flatfoot among children and adults. We searched Web of Science, PubMed/MEDLINE, and Google Scholar databases reporting population-based flatfoot prevalence. Two reviewers independently extracted the data and assessed the qualities of the studies. Subgroup analysis was conducted to analyze the associated factors on flatfoot prevalence. Frequencies, odds ratios (OR), and 95% confidence intervals (CI) were performed using descriptive analysis and chi-square test accounting for heterogeneity. Any conflict in the data analysis was discussed by all the reviewers. Twelve studies including 2509 flatfoot cases were analyzed (overall prevalence 15.6%, n = 16,000). The subgroup analysis indicated that male gender (OR = 1.26, 95% CI: 1.15-1.37), age groups 3 to 5 years (OR = 2.02, 95% CI: 1.78-2.30) and 11 to 17 years (OR = 1.91, 95% CI: 1.64-2.22), Asian race (OR = 2.34, 95% CI: 2.10-2.60), and obesity (OR = 2.62, 95% CI: 2.06-3.32) were more associated with flatfoot (p < .001). Conversely, female gender (OR = 0.44, 95% CI: 0.40-0.48) and White race (OR = 0.52, 95% CI: 0.47-0.57) were less associated with flatfoot (p < .001). Our findings may be valuable for clinical/surgical settings, particularly, for those modifiable findings and targeted populations. However, we suggest that future studies estimating flatfoot should consider prospective/multicenter designs using a common screening methods in random samples populations.
Topics: Humans; Male; Child; Adult; Female; Child, Preschool; Flatfoot; Prevalence; Prospective Studies; Obesity; Databases, Factual; Multicenter Studies as Topic
PubMed: 37286098
DOI: 10.1053/j.jfas.2023.05.007 -
Jornal de Pediatria 2023Meckel diverticulum (MD) is a common malformation of the digestive tract, often accompanied by serious complications. It is important to find safe and effective... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Meckel diverticulum (MD) is a common malformation of the digestive tract, often accompanied by serious complications. It is important to find safe and effective diagnostic methods for screening MD. The aim of this study was to evaluate the effectiveness of a technetium-99m (Tc-99m) scan for pediatric bleeding MD.
METHODS
The authors conducted a systematic review of studies published in PubMed, Embase, and Web of Science before 1 January 2023. Studies based on PICOS were included in this systematic review. The flow chart was made by PRISMA software. The quality of included studies was assessed by RevMan5 software (QUADAS-2: Quality Assessment of Diagnostic Accuracy Studies-2). The sensitivity, specificity, and other measurements of accuracy were pooled using Stata/SE 12.0 software.
RESULTS
Sixteen studies with 1115 children were included in this systematic review. A randomized-effects model was used for the meta-analysis because of significant heterogeneity. The combined sensitivity and specificity were 0.80 [Confidence Interval (95% CI, 0.73-0.86) and 0.95 (95% CI, 0.86-0.98)], respectively. The area under the curve (AUC) was 0.88 (95% CI, 0.85-0.90). Publication bias (Begg's test p = 0.053) was observed.
CONCLUSION
Tc-99m scan has high specificity, but moderate sensitivity, which is always influenced by some factors. Hence, the Tc-99m scan has some limitations in the diagnosis of pediatric bleeding MD.
Topics: Child; Humans; Technetium; Meckel Diverticulum; Radionuclide Imaging; Gastrointestinal Hemorrhage; Sensitivity and Specificity
PubMed: 37277097
DOI: 10.1016/j.jped.2023.03.009 -
Prenatal Diagnosis Aug 2023Unexplained stillbirth is defined as a stillbirth with no known cause after the exclusion of common causes, including obstetric complications, infections, placental... (Review)
Review
Unexplained stillbirth is defined as a stillbirth with no known cause after the exclusion of common causes, including obstetric complications, infections, placental insufficiency or abruption, umbilical cord complications, and congenital abnormalities with or without known genetic cause. More than 60% of stillbirth cases remain unexplained. The aim of this systematic review was to investigate the known genetic causes of unexplained stillbirth cases and to evaluate the current position and future directions for the use of genetic and genomic testing in expanding the knowledge in this field. A systematic search through several databases was performed using the keywords genetics and stillbirths in humans. Different methods to detect various types of causal genetic aberrations have been used in the past decades, from standard karyotyping to novel methods such as chromosomal microarray analysis and next generation sequencing technologies. Apart from common chromosomal aneuploidies, a promising hypothesis about genetic causes included genes related to cardiomyopathies and channelopathies. However, these were tested in the research settings, since molecular karyotyping is currently the standard approach in the routine evaluation of genetic causes of stillbirth. Hereby, we provide evidence that expanding knowledge using novel genetic and genomic testing might uncover new genetic causes of unexplained stillbirth.
Topics: Humans; Female; Pregnancy; Stillbirth; Placenta; Aneuploidy; Databases, Factual; Genetic Profile
PubMed: 37072878
DOI: 10.1002/pd.6354