-
International Urology and Nephrology Oct 2023Some authors have estimated that the incidence of testicular germ cell tumors in individuals with trisomy 21 is more than fivefold higher than that in the general... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Some authors have estimated that the incidence of testicular germ cell tumors in individuals with trisomy 21 is more than fivefold higher than that in the general population.
OBJECTIVE
This systematic review aimed to estimate the incidence of urological tumors in patients with Down's syndrome.
STUDY DESIGN
We conducted a search strategy in MEDLINE (OVID), EMBASE, LILACS, and the Cochrane Central Register of Controlled Trials (CENTRAL) from inception to nowadays. We assessed the risk of bias and performed a meta-analysis. Also, the heterogeneity between trials was evaluated by the I test. We completed the subgroup analysis based on the type of urological tumor (testis, bladder, kidney, upper urological tract, penile, retroperitoneum).
RESULTS
We found 350 studies by the search strategy. After carefully reviewing, full-text studies were included. 16,248 individuals with Down's syndrome were included, and 42 patients presented with urological tumors. There was a total incidence of 0.1%, 95%CI (0.06-0.19), I 61%. The most common urological tumor reported was testicular. We found six studies describing 31 events and an overall incidence of 0.19%, 95%CI (0.11-0.33), I: 51%. Other studies reported kidney, penile, upper urinary tract, bladder, and retroperitoneum tumors with a very low incidence, 0.02%, 0.06%, 0.03%, 0.11%and 0.07%, respectively.
DISCUSSION
Regarding non-testicular urological tumors, we found incidences as low as 0.02% in kidney cancer or 0.03% in the upper-urothelial tract tumors. It is also lower than the general population. Compared to the age of onset of patients, it is also lower than the general population, perhaps related to a shorter life expectancy. As a limitation, we found a high heterogeneity and a lack of information regarding non-testicular tumors.
CONCLUSION
There was a very low incidence of urological tumors in people with Down's syndrome. Testis tumor was the most frequently described in all cohorts and within a normal distribution range.
Topics: Male; Humans; Down Syndrome; Incidence; Testicular Neoplasms; Urologic Neoplasms
PubMed: 37368086
DOI: 10.1007/s11255-023-03656-4 -
Special Care in Dentistry : Official... 2024Down syndrome (DS) is distinguished by cognitive disability, a concave profile, and systemic complications. Oral diseases have been reported to be common in DS patients. (Meta-Analysis)
Meta-Analysis
BACKGROUND
Down syndrome (DS) is distinguished by cognitive disability, a concave profile, and systemic complications. Oral diseases have been reported to be common in DS patients.
OBJECTIVE
To investigate the association between DS and periodontal diseases.
METHODS
Two independent reviewers searched six bibliographic databases up to January 2023 and used additional search methods to identify published studies on gingivitis or periodontitis in people with and without DS. Meta-analysis, risk of bias, sensibility analysis, publication bias, and evidence grading were all carried out.
RESULTS
Twenty-six studies were included for analysis. There was a tendency for increased plaque accumulation, periodontal probing, periodontal attachment level, bleeding on probing and indices in DS individuals. Meta-analysis of 11 studies showed a significant association between DS and periodontitis (OR 3.93; 95% CI 1.81-8.53). Probing depth was significantly high in individuals with DS as compared to controls (mean difference 0.40 mm; 95% CI 0.09-0.70). Gingivitis was significantly associated (OR 1.93; 95% CI 1.09-3.41) with DS in four studies. The evidence was classified as 'moderate certainty'.
CONCLUSION
Medium/low-quality studies demonstrate that Down syndrome is strongly associated with periodontitis and moderately associated with gingivitis.
Topics: Humans; Down Syndrome; Periodontal Diseases; Periodontitis; Gingivitis; Dental Plaque
PubMed: 37341556
DOI: 10.1111/scd.12892 -
International Journal of Surgery... Aug 2023The incidence of Hirschsprung disease (HSCR) is nearly 1/5000 and patients with HSCR are usually treated through surgical intervention. Hirschsprung disease-associated... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The incidence of Hirschsprung disease (HSCR) is nearly 1/5000 and patients with HSCR are usually treated through surgical intervention. Hirschsprung disease-associated enterocolitis (HAEC) is a complication of HSCR with the highest morbidity and mortality in patients. The evidence on the risk factors for HAEC remains inconclusive to date.
METHODS
Four English databases and four Chinese databases were searched for relevant studies published until May 2022. The search retrieved 53 relevant studies. The retrieved studies were scored on the Newcastle-Ottawa Scale by three researchers. Revman 5.4 software was employed for data synthesis and analysis. Stata 16 software was employed for sensitivity analysis and bias analysis.
RESULTS
A total of 53 articles were retrieved from the database search, which included 10 012 cases of HSCR and 2310 cases of HAEC. The systematic analysis revealed anastomotic stenosis or fistula [ I2 =66%, risk ratio (RR)=1.90, 95% CI 1.34-2.68, P <0.001], preoperative enterocolitis ( I2 =55%, RR=2.07, 95% CI 1.71-2.51, P <0.001), preoperative malnutrition ( I2 =0%, RR=1.96, 95% CI 1.52-2.53, P <0.001), preoperative respiratory infection or pneumonia ( I2 =0%, RR=2.37, 95% CI 1.91-2.93, P <0.001), postoperative ileus ( I2 =17%, RR=2.41, 95% CI 2.02-2.87, P <0.001), length of ganglionless segment greater than 30 cm ( I2 =0%, RR=3.64, 95% CI 2.43-5.48, P <0.001), preoperative hypoproteinemia ( I2 =0%, RR=1.91, 95% CI 1.44-2.54, P <0.001), and Down syndrome ( I2 =29%, RR=1.65, 95% CI 1.32-2.07, P <0.001) as the risk factors for postoperative HAEC. Short-segment HSCR ( I2 =46%, RR=0.62, 95% CI 0.54-0.71, P <0.001) and transanal operation ( I2 =78%, RR=0.56, 95% CI 0.33-0.96, P =0.03) were revealed as the protective factors against postoperative HAEC. Preoperative malnutrition ( I2 =35 % , RR=5.33, 95% CI 2.68-10.60, P <0.001), preoperative hypoproteinemia ( I2 =20%, RR=4.17, 95% CI 1.91-9.12, P <0.001), preoperative enterocolitis ( I2 =45%, RR=3.51, 95% CI 2.54-4.84, P <0.001), and preoperative respiratory infection or pneumonia ( I2 =0%, RR=7.20, 95% CI 4.00-12.94, P <0.001) were revealed as the risk factors for recurrent HAEC, while short-segment HSCR ( I2 =0%, RR=0.40, 95% CI 0.21-0.76, P =0.005) was revealed as a protective factor against recurrent HAEC.
CONCLUSION
The present review delineated the multiple risk factors for HAEC, which could assist in preventing the development of HAEC.
Topics: Humans; Hirschsprung Disease; Enterocolitis; Risk Factors; Incidence; Morbidity
PubMed: 37288551
DOI: 10.1097/JS9.0000000000000473 -
Journal of Sleep Research Apr 2024Obstructive sleep apnea (OSA) is commonly observed in children with Down syndrome (DS) and may affect their physical and psychological development. Currently,... (Meta-Analysis)
Meta-Analysis Review
Obstructive sleep apnea (OSA) is commonly observed in children with Down syndrome (DS) and may affect their physical and psychological development. Currently, adenotonsillectomy is the first line treatment option for paediatric patients with OSA. However, surgical outcomes for such patients are not satisfactory. In this study, we analysed the efficacy and safety of adenotonsillectomy in the treatment of children with obstructive sleep apnea and Down syndrome. We systematically searched the PubMed, Web of Science, EMBASE, and the Cochrane databases and pooled data from nine relevant studies involving 384 participants. Subsequently, we analysed four outcomes in polysomnography, namely: net postoperative changes in the apnea-hypopnea index (AHI), the minimum oxygen saturation, sleep efficiency, and arousal index. Meta-analysis of the AHI showed a decrease of 7.18 events/h [95% CI (-9.69, -4.67) events/h; p < 0.00001] and an increase in the minimum oxygen saturation of 3.14% [95% CI (1.44, 4.84) %; p = 0.0003]. There was no significant increase in sleep efficiency [MD 1.69%, 95% CI (-0.59, 3.98) %; p = 0.15], but the arousal index significantly decreased by -3.21 events/hour [95% CI (-6.04, -0.38) events/h; p < 0.03]. In addition, the overall success rate was 16% (95% CI, 12%-21%) for postoperative AHI < 1 and 57% (95% CI, 51%-63%) for postoperative AHI <5. The postoperative complications recorded included airway obstruction and bleeding. This study demonstrated the efficacy of adenotonsillectomy as a treatment option for OSA. However, it is important to note that residual OSA and potential postoperative complications require further attention in future studies.
Topics: Child; Humans; Down Syndrome; Treatment Outcome; Tonsillectomy; Sleep Apnea, Obstructive; Postoperative Complications
PubMed: 37226964
DOI: 10.1111/jsr.13946 -
Journal of Intellectual Disability... Aug 2023Down syndrome (DS) is the most common genetic disorder. To date, the scientific literature regarding micronutrient status in children and adolescents with DS has not... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Down syndrome (DS) is the most common genetic disorder. To date, the scientific literature regarding micronutrient status in children and adolescents with DS has not been systematically reviewed. Therefore, our aim was to provide a systematic review and meta-analysis on this topic.
METHODS
We identified all relevant case-control studies published by 1 January 2022, by searching the PubMed and Scopus databases for original English-language articles analysing the micronutrient status of individuals with DS. Forty studies were included in the systematic review and 31 in the meta-analysis.
RESULTS
Statistically significant differences between individuals with DS (cases) and non-DS (controls) (P ≤ 0.05) were obtained for zinc, selenium, copper, vitamin B12, sodium and calcium. Serum, plasma and whole blood analyses showed lower zinc levels in cases than controls {standardised mean difference [SMD] serum [95% confidence interval (CI)] = -2.32 [-3.22, -1.41], P < 0.00001; SMD plasma [95% CI] = -1.29 [-2.26, -0.31], P < 0.01; SMD blood [95% CI] = -1.59 [-2.29, -0.89], P < 0.00001}. Similarly, plasma and blood selenium concentrations were significantly lower in cases than controls (SMD plasma [95% CI] = -1.39 [-2.26, -0.51], P = 0.002; SMD blood [95% CI] = -1.86 [-2.59, -1.13], P < 0.00001). Intraerythrocytic copper and serum B12 were higher in cases than controls (SMD Cu [95% CI] = 3.33 [2.19, 4.46], P < 0.00001; SMD B12 [95% CI] = 0.89 [0.01, 1.77], P = 0.048). Blood calcium was lower in cases than controls (SMD Ca [95% CI] = -0.77 [-1.34, -0.21], P = 0.007).
CONCLUSIONS
This study provides the first systematic overview of micronutrient status in children and adolescents with DS and has shown that relatively little consistent research has been executed in this field. There is a clear need for more well-designed, clinical trials to study the micronutrient status and effects of dietary supplements in children and adolescents with DS.
Topics: Child; Humans; Adolescent; Micronutrients; Down Syndrome; Selenium; Copper; Calcium; Zinc
PubMed: 37218392
DOI: 10.1111/jir.13042 -
Journal of Neurosurgery. Pediatrics Aug 2023Down syndrome (DS) affects 1 in 700 live births and approximately one-third of patients develop craniovertebral junction (CVJ) instability, diagnosed by clinical...
OBJECTIVE
Down syndrome (DS) affects 1 in 700 live births and approximately one-third of patients develop craniovertebral junction (CVJ) instability, diagnosed by clinical examination and radiological measures such as the atlantodens interval (ADI) and space available for the cord (SAC). Patients with symptomatic CVJ instability are at increased risk for spinal cord injury. There are no guidelines for surgical management of CVJ instability in DS, the existing literature is sparse, and there is a lack of consistent pediatric data. This systematic review aimed to synthesize practice patterns of the surgical management of CVJ stability in pediatric DS patients to facilitate future standardization of care.
METHODS
Peer-reviewed studies reporting surgical management of CVJ instability in pediatric DS patients were systematically reviewed. Inclusion criteria were studies reporting primary data on patients younger than 18 years with DS, who had CVJ instability evaluation and underwent surgical treatment. Bias risk was assessed. Descriptive statistics of the independent patient data were presented. Interval variables were analyzed using the Wilcoxon rank-sum test.
RESULTS
Of 1056 records, 38 studies were included. Of the included patients, 169 (6%) underwent surgery. The surgical indication was symptomatic, radiologically confirmed CVJ instability in 81% of the patients, presenting with myelopathy (30%), weakness (25%), abnormal gait (24%), torticollis (15%), and neck pain (14%). A cutoff of ADI ≥ 4 mm or SAC ≤ 14 mm, cord compression, cord signal change, and anomalous bony anatomy were used in diagnosing CVJ instability. Surgical approaches focused on internal fixation with posterior occipitocervical or atlantoaxial instrumented fusion in 57% and 44% of patients, respectively. Autograft, wiring, and allograft constructs were used in 48%, 45%, and 9% of patients. Anterior cervical approaches were performed in 6% of patients. Preoperative and postoperative external orthoses were used in approximately 50% of patients. The surgical mortality rate was 3%, and the complication rate was 36%.
CONCLUSIONS
Assessment of CVJ instability in DS is based on radiographic and clinical factors. Surgery is recommended if symptoms are present, and the procedure type depends on patient factors, degree of instability, anomalous bony anatomy, and reduction results to relieve cord compression. Most commonly, posterior instrumented fusion is used. However, further research is required to determine the strength of evaluation methods, create standardized guidelines for evaluation and surgical treatment, and investigate the long-term results of different surgical techniques.
Topics: Humans; Child; Down Syndrome; Spinal Cord Injuries; Decompression, Surgical; Spinal Fusion; Atlanto-Axial Joint
PubMed: 37119098
DOI: 10.3171/2023.3.PEDS22353 -
Minerva Cardiology and Angiology Dec 2023Marfan Syndrome (MFS) is a rare and complex genetic disorder associated with increased aortic growth and aortic disease. The effectiveness of cardiovascular medical...
INTRODUCTION
Marfan Syndrome (MFS) is a rare and complex genetic disorder associated with increased aortic growth and aortic disease. The effectiveness of cardiovascular medical therapies aiming to slow down aortic growth has been tested in several trials, particularly beta-blockers and angiotensin receptor blockers, however showing conflicting results.
EVIDENCE ACQUISITION
We conducted a systematic review on PubMed (Medline), Cochrane library, Google Scholar, and Biomed Central databases between January and February 2022. We selected relevant articles focusing on patients with MFS treated with beta-blockers, angiotensin receptors blockers, or both, and reporting data on the effect of the drugs on 1) slowing down aortic dilatation; 2) the reduction of aortic complication (aortic dissection, mortality, aortic surgery); and with a 3) follow-up length of at least two years. A total of 16 studies were selected.
EVIDENCE SYNTHESIS
Beta-blockers remain the mainstay of therapy as they have proven to slow aortic enlargement. Angiotensin receptor blockers are a useful alternative and with proven benefit as an add-on therapy to limit aortic growth. Neither beta-blockers, nor angiotensin receptor blockers have shown meaningful results on clinical aortic endpoints.
CONCLUSIONS
The current evidence of pharmacological treatment for MFS patients is conflicting due to the lack of large, randomized clinical trials with adequate follow-up studies and homogeneous age grouping. Beta-blockers and angiotensin receptor blockers are the only available treatments to reduce aortic growth. A recently published patient-level meta-analysis confirmed that angiotensin receptor blockers and beta-blockers have a similar effect on reducing the rate of increase of the aortic root Z score, used singularly or as add-on therapy. Considering the current evidence on new features related with MFS (such as mitral annular disjunction - MAD) bearing a potential additional increased arrhythmic risk, it is of paramount importance to establish the role of beta-blockers and angiotensin receptor blockers in clinical endpoints of this population as well.
Topics: Humans; Adrenergic beta-Antagonists; Angiotensin Receptor Antagonists; Aorta; Aortic Diseases; Cardiovascular Diseases; Marfan Syndrome
PubMed: 36939732
DOI: 10.23736/S2724-5683.23.06184-7 -
Clinics in Shoulder and Elbow Dec 2023Radiofrequency has seen an increase in use in orthopedics including cartilage lesion debridement in the hip and knee as well as many applications in arthroscopic... (Review)
Review
BACKGROUND
Radiofrequency has seen an increase in use in orthopedics including cartilage lesion debridement in the hip and knee as well as many applications in arthroscopic shoulder surgery. The purpose of this systematic review is to evaluate the safety and usage of radiofrequency in the shoulder.
METHODS
This systematic review was registered with PROSPERO (international registry) and followed the preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) guidelines. Embase and PubMed were searched using: "shoulder," "rotator cuff," "biceps," "acromion" AND "monopolar," "bipolar," "ablation," "coblation," and "radiofrequency ablation." The title and abstract review were performed independently. Any discrepancies were addressed through open discussion.
RESULTS
A total of 63 studies were included. Radiofrequency is currently utilized in impingement syndrome, fracture fixation, instability, nerve injury, adhesive capsulitis, postoperative stiffness, and rotator cuff disease. Adverse events, namely superficial burns, are limited to case reports and case series, with higher-level evidence demonstrating safe use when used below the temperature threshold. Bipolar radiofrequency may decrease operative time and decrease the cost per case.
CONCLUSIONS
Shoulder radiofrequency has a wide scope of application in various shoulder pathologies. Shoulder radiofrequency is safe; however, requires practitioners to be cognizant of the potential for thermal burn injuries. Bipolar radiofrequency may represent a more efficacious and economic treatment modality. Safety precautions have been executed by institutions to cut down patient complications from shoulder radiofrequency. Future research is required to determine what measures can be taken to further minimize the risk of thermal burns.
PubMed: 36330719
DOI: 10.5397/cise.2022.01067