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Clinical Genetics Jun 2024HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. An autosomal dominant disease caused by heterozygous pathogenic GATA3...
HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. An autosomal dominant disease caused by heterozygous pathogenic GATA3 variants, the penetrance of each associated condition is variable. Literature reviews have provided some answers, but many questions remain, in particular what the relationship is between genotype and phenotype. The current study examines 28 patients with HDR syndrome combined with an exhaustive review of the literature. Some conditions such as hearing loss are almost always present, while others described as rare initially, do not seem to be so rare after all (genital malformations and basal ganglia calcifications). By modeling pathogenic GATA3 variants found in HDR syndrome, we found that missense variations appear to always be located in the same area (close to the two Zinc Finger domain). We describe new pathogenic GATA3 variants, of which some seem to always be associated with certain conditions. Many audiograms were studied to establish a typical audiometric profile associated with a phenotype in HDR. As mentioned in the literature, hearing function should always be assessed as early as possible and follow up of patients with HDR syndrome should include monitoring of parathyroid function and vesicoureteral reflux in order to prevent complications.
PubMed: 38940299
DOI: 10.1111/cge.14583 -
The Iowa Orthopaedic Journal 2024Acetabular dysplasia has a wide range of prevalence reported in the literature. This variation is likely due to differences in the population under investigation and...
BACKGROUND
Acetabular dysplasia has a wide range of prevalence reported in the literature. This variation is likely due to differences in the population under investigation and studies focusing on cohorts with hip pain and osteoarthritis. There are reports of radiographic hip dysplasia prevalence for adults without hip pain but there is no systematic review of these studies to document the incidence in the general population. The purpose of this systematic review was to provide a full summary of all studies that report prevalence of hip dysplasia in adults without hip pain.
METHODS
PRISMA guidelines were utilized as an outline for this systematic review. Articles were pulled from PubMed, OVID Medline, Embase, SCOPUS, Cochrane Central Register of Clinical Trials, and clinicaltrials.gov from their inception dates to 1/7/24. Studies were included if participants were asymptomatic and reported rates of prevalence.
RESULTS
Fourteen studies were included in this systematic review. There were 10,998 hips from 5,506 participants included in this analysis. The overall prevalence of radiographic hip dysplasia was 2.3%. Eight studies of 5,930 hips reported the prevalence of hip dysplasia by sex. The prevalence rate in these studies was 3.8% in females and 2.7% in males.
CONCLUSION
Acetabular dysplasia based on radiographic measurements is relatively common in the general adult population. Furthermore, females have a higher prevalence rate when compared to males. It is important to recognize the incidence of hip dysplasia in the asymptomatic adult population as we recommend surgical treatment for patients who present with hip pain and dysplasia. Further studies should investigate the natural history of untreated and treated hip dysplasia. .
Topics: Humans; Prevalence; Adult; Radiography; Hip Dislocation; Male; Female
PubMed: 38919354
DOI: No ID Found -
The Iowa Orthopaedic Journal 2024Hip dysplasia is a leading cause of hip osteoarthritis. While periacetabular osteotomy (PAO) is effective for relieving pain and dysfunction caused by hip dysplasia in... (Review)
Review
BACKGROUND
Hip dysplasia is a leading cause of hip osteoarthritis. While periacetabular osteotomy (PAO) is effective for relieving pain and dysfunction caused by hip dysplasia in adolescents and young adults, there is concern that patients over 40 years of age will have an increased risk of persistent dysfunction and need for total hip arthroplasty. Current available evidence for PAO in older adults is limited and there is no systematic review in the literature focusing on this topic. The current systematic review offers insight into the demographics, patient-reported outcome measure (PROM) scores, and hip survivorship from total hip arthroplasty in patients over 40 years older treated for hip dysplasia with PAO.
METHODS
The review was conducted under the guidelines for the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA). Databases that were searched included PubMed, OVID Medline, SCOPUS, Embase, Cochrane Library, and clinicaltrials.gov. Studies were screened based on predetermined inclusion and exclusion criteria.
RESULTS
Five studies were included in this systematic review. Enrollment years were 1990-2013. In total, there were 335 hips with mean ages between 43.5-47.2 years. Mean follow up was 4-10.8 years. Most patients that underwent hip preservation had Tonnis osteoarthritis grade 0-1. There was contradicting evidence whether patients >40 years did better or worse compared to <40 years; although, most patients in the >40 years group had good outcomes after PAO. PAO survivorship ranged from 67-100% depending on the study. Complications ranged from 2-36% of cases depending on the study; although, none of these complications had lasting effects.
CONCLUSION
Patients over 40 years old appear to have positive outcomes when treated for hip dysplasia with PAO, though these patients were likely selected for no to minimal osteoarthritis, high functional status, and good health. PAO should be considered for patients with hip dysplasia over 40 years old without hip arthritis, though we recommend very selective indications. .
Topics: Humans; Osteotomy; Adult; Acetabulum; Middle Aged; Osteoarthritis, Hip; Arthroplasty, Replacement, Hip; Treatment Outcome; Hip Dislocation; Female; Male
PubMed: 38919352
DOI: No ID Found -
The Iowa Orthopaedic Journal 2024Early post-operative pain control is essential to facilitate rapid recovery after orthopaedic surgery. Despite periacetabular osteotomy (PAO) being the gold standard...
BACKGROUND
Early post-operative pain control is essential to facilitate rapid recovery after orthopaedic surgery. Despite periacetabular osteotomy (PAO) being the gold standard treatment of prearthritic hip dysplasia, there is limited evidence assessing efficacy of early post-operative pain management strategies. Recent literature has focused on non-opioid supplemental treatments such as nerve blocks or local wound infiltration. The purpose of this systematic review was to assess efficacy of these interventions to reduce pain, facilitate mobilization, reduce length of stay after PAO surgery.
METHODS
A systematic review was created under the guidance of PRISMA from databases that included PubMed, OVID Medline, Embase, SCOPUS, Cochrane Central Register of Clinical Trials, and clinicaltrials.gov from their creation dates to 12/21/23. These studies were screen based on predetermined inclusion and exclusion criteria.
RESULTS
A total of six studies were included in this analysis from independent institutions. Three investigated nerve blocks (fascia iliaca, pericapsular, transversus abdominis), one investigated local wound infiltration with ropivacaine, one investigated high-dose dexamethasone, and the last investigated removal of the epidural catheter on postoperative (POD) 1 compared to POD 2. There were heterogeneous outcomes that were measured from these studies. In general, nerve blocks decreased opioid use, pain, and length of hospital stay. The local wound infiltration decreased pain on POD 3 and 4. Removing the epidural catheter on POD1 compared to POD 2 decreased pain and length of stay. High-dose dexamethasone use decreased opioid use on POD 1, otherwise, there was no difference in pain.
CONCLUSION
In summary, supplemental pain management strategies peri-operatively for PAO surgery can decrease pain, opioid use, and length of hospital stay, though there are few studies assessing these interventions. Limiting opioid use after surgery reduces known negative consequences of the medication and facilitates rapid recovery. Clinical trials are needed that assess efficacy of supplemental pain management strategies after PAO surgery. .
Topics: Humans; Osteotomy; Pain, Postoperative; Pain Management; Acetabulum; Nerve Block; Hip Dislocation; Length of Stay; Pain Measurement
PubMed: 38919337
DOI: No ID Found -
Maxillofacial Plastic and... Jun 2024Focal and florid cemento-osseous dysplasia are benign fibro-osseous lesions affecting the quality and quantity of the jawbones. This study aimed to determine the... (Review)
Review
BACKGROUND
Focal and florid cemento-osseous dysplasia are benign fibro-osseous lesions affecting the quality and quantity of the jawbones. This study aimed to determine the viability of implant-based approaches in the affected patients.
MAIN TEXT
Different scientific databases, including PubMed/MEDLINE, Scopus, Web of Science, Embase, the Cochrane Library, and Google Scholar, were searched until October 8, 2023, using a pre-determined search strategy. Two reviewers screened the retrieved reports and extracted the required information from the included studies. The eligibility criteria included English-language case reports/series or clinical trials. The JBI critical appraisal checklist for case reports was used to assess the methodological quality of the included studies. Three studies were deemed eligible to be included in this study out of the initial 202 records found. Five implants were placed in three patients, positioned in the proximity of the lesion area, without any additional treatment to remove the pathology. The mandibular posterior area was the affected site in all patients. Only one implant failed in one patient after 16 years, which was attributed to peri-implantitis and not the lesion. Other implants demonstrated successful maintenance over follow-up periods.
CONCLUSIONS
Although the number of the included records was relatively low to draw firm conclusions, it seems that implant-based treatments in patients with focal/florid cemento-osseous dysplasia could be viable, considering a conservative and well-planned approach.
PubMed: 38900334
DOI: 10.1186/s40902-024-00432-x -
Gastrointestinal Endoscopy Jun 2024Endoscopic mucosal resection (EMR) and endoscopic submucosal dissection (ESD) are both accepted resection strategies for Barrett's esophagus-related neoplasia and... (Review)
Review
Comparison of Endoscopic Mucosal Resection versus Endoscopic Submucosal Dissection for Barrett's Neoplasia and Esophageal Adenocarcinoma: A Systematic Review and Meta-Analysis.
BACKGROUND AND AIMS
Endoscopic mucosal resection (EMR) and endoscopic submucosal dissection (ESD) are both accepted resection strategies for Barrett's esophagus-related neoplasia and esophageal adenocarcinoma (EAC). However, a lack of consensus exists regarding which technique offers superior outcomes. This study aims to systematically review the evidence comparing EMR versus ESD in treating Barrett's neoplasia and EAC.
METHODS
We searched three databases (Embase, MEDLINE, Cochrane Central) until October 2023. We included studies comparing the efficacy of EMR and ESD for Barrett's neoplasia and EAC. Primary outcomes include en bloc, R0, and curative resection, complete remission of dysplasia (CRD), and local recurrence. Secondary outcomes encompass adverse events.
RESULTS
Our search identified 905 records. Eleven studies were included in the final analyses. Data showed significantly higher en bloc resection rates with ESD [odds ratio(OR)=27.36 (95% confidence intervals(CI):7.12-105.21), p<0.01, 6 studies]. R0 resection rates were significantly higher with ESD [OR=5.73 (95%CI:2.32-14.16), p<0.01, 7 studies]. Curative resection rates tended to be higher with ESD [OR=3.49 (95%CI:0.86-14.14), p=0.080, 4 studies]. There was no significant difference in CRD rates [OR=0.92 (95%CI:0.37-2.26),p=0.86, 3 studies]. Local recurrence rates tended to be lower with ESD [OR=0.35 (95%CI: 0.11-1.04), p=0.058, 10 studies]. As for adverse events, there was no significant difference in bleeding, perforation, and postoperative stricture rates.
CONCLUSIONS
This systematic review and meta-analysis demonstrates that ESD achieves higher en bloc, R0 and curative resection rates, with a tendency toward lower recurrence rates. These results suggest that ESD may be a more effective option for managing Barrett's neoplasia and EAC.
PubMed: 38879048
DOI: 10.1016/j.gie.2024.06.012 -
Pediatrics International : Official... 2024Bronchopulmonary dysplasia (BPD) persists as one of the foremost factors contributing to mortality and morbidity in extremely preterm infants. The effectiveness of... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Bronchopulmonary dysplasia (BPD) persists as one of the foremost factors contributing to mortality and morbidity in extremely preterm infants. The effectiveness of administering sildenafil early on to prevent BPD remains uncertain. The aim of this study was to investigate the efficacy and safety of prophylactically administered sildenafil during the early life stages of preterm infants to prevent mortality and BPD.
METHODS
MEDLINE, Embase, Cochrane Central Register of Controlled Trials, Cumulative Index to Nursing and Allied Health Literature, and Ichushi were searched. Published randomized controlled trials (RCTs), non-RCTs, interrupted time series, cohort studies, case-control studies, and controlled before-and-after studies were included. Two reviewers independently screened the title, abstract, and full text, extracted data, assessed the risk of bias, and evaluated the certainty of evidence (CoE) following the Grading of Recommendations Assessment and Development and Evaluation approach. The random-effects model was used for a meta-analysis of RCTs.
RESULTS
This review included three RCTs (162 infants). There were no significant differences between the prophylactic sildenafil and placebo groups in mortality (risk ratio [RR]: 1.32; 95% confidence interval [CI]: 0.16-10.75; very low CoE), BPD (RR: 1.20; 95% CI: 0.79-1.83; very low CoE), and all other outcome assessed (all with very low CoE). The sample sizes were less than the optimal sizes for all outcomes assessed, indicating the need for further trials.
CONCLUSIONS
The prophylactic use of sildenafil in individuals at risk of BPD did not indicate any advantageous effects in terms of mortality, BPD, and other outcomes, or increased side effects.
Topics: Humans; Sildenafil Citrate; Bronchopulmonary Dysplasia; Infant, Newborn; Phosphodiesterase 5 Inhibitors; Treatment Outcome; Randomized Controlled Trials as Topic; Infant, Extremely Premature; Vasodilator Agents
PubMed: 38863262
DOI: 10.1111/ped.15749 -
Neonatology Jun 2024Randomization and blinding are generally important in randomized trials. In neonatology, blinding of ventilation strategies is unfeasible if not impossible and we...
INTRODUCTION
Randomization and blinding are generally important in randomized trials. In neonatology, blinding of ventilation strategies is unfeasible if not impossible and we hypothesized that its importance has been overestimated, while the peculiarities of the neonatal patient and the specific outcomes have not been considered.
METHODS
For this meta-epidemiological review, we searched PubMed and Scopus databases in November 2023. We included all meta-analyses focusing on ventilation, published in past 5 years, and reporting either mortality or bronchopulmonary dysplasia (BPD) as an outcome. We extracted the information about how the authors had analyzed risk of bias and evidence certainty.
RESULTS
We screened 494 abstracts and included 40 meta-analyses. Overall, 13 of the 40 reviews assessed blinding properly. Australian and European authors were most likely to perform correct assessment of the blinding (p = 0.03) and the use of RoB 2.0 tool was also associated with proper assessment (p < 0.001). In multivariate regression, the use of RoB 2.0 was the only factor associated with a proper assessment (Beta 0.57 [95% confidence interval: 0.29-0.99]). GRADE ratings were performed in 25 reviews, and the authors downgraded the evidence certainty due to risk of bias in 19 of these and none of these reviews performed the blinding assessment correctly.
CONCLUSION
In past neonatal evidence syntheses, the role of blinding has been mostly overestimated, which has led to downgrading of evidence certainty. Objective outcomes (such as mortality and BPD) do not need to be downgraded due to lack of blinding, as the knowledge of the received intervention does not influence the outcome assessment.
PubMed: 38861954
DOI: 10.1159/000539203 -
Gastrointestinal Endoscopy Jun 2024Serrated polyps (SPs) are precursors to 15-20% of colorectal cancers (CRCs). However, there are uncertainties regarding which SPs require surveillance and at what... (Review)
Review
BACKGROUND AND AIMS
Serrated polyps (SPs) are precursors to 15-20% of colorectal cancers (CRCs). However, there are uncertainties regarding which SPs require surveillance and at what intervals, with recommendations adapted from those for adenomas in the absence of solid evidence. Our aim was to assess which SP risk characteristics relate to a higher risk of metachronous CRC or advanced polyps.
METHODS
We systematically searched PubMed, EMBASE, and Cochrane for cohort, case-control studies, and clinical trials from inception to Dec 31, 2023, for CRC or advanced polyps [advanced adenoma (AA) or advanced SP] incidence at surveillance stratified by baseline SP size, dysplasia, location, and multiplicity. We defined advanced SPs as those >10mm or with dysplasia. CRC and advanced polyp incidence per 1,000 person-years (p-y) were estimated. We performed a meta-analysis by calculating pooled relative risks (RR) using a random-effects model.
RESULTS
5,903 studies were reviewed and 14 included, with 493,949 patients (mean age 59·5 years, 55% men). Mean follow-up was 4·9 years. CRC incidence per 1,000 p-y was 2·09 (95%CI 1·29-2·90) for advanced SP, 1·52 (0·78-2·25) for SP>10mm, 5·86 (2·16-9·56) for SP with dysplasia, 1·18 (0·77-1·60) for proximal SP, 0·52 (0·08-1·12) for >3SP, 0·50 (0·35-0·66) for non-advanced SP, and 0·44 (0·41-0·46) for normal colonoscopy. Metachronous CRC risk was higher in advanced SP vs non-advanced SP (RR 1·84, 95%CI 1·11-3·04), and vs normal colonoscopy (RR 2·92, 2·26-3·77); in SP>10mm vs <10mm (RR 2·61, 1·43-4·77), and vs normal colonoscopy (RR 3·52, 2·17-5·69); and in SP with dysplasia vs normal colonoscopy (RR 2·71, 2·00-3·67). No increase in CRC or advanced polyp risk was found in patients with proximal vs distal SP, nor in >3SP vs 1-2SP.
CONCLUSIONS
CRC risk is significantly higher in patients with baseline advanced SP after 4·9 years of follow-up, with risk magnitudes similar to those described for AA, supporting the current recommendation for 3-year surveillance in patients with advanced SP.
PubMed: 38851458
DOI: 10.1016/j.gie.2024.05.021 -
Surgical Neurology International 2024Surgery is the best approach to treating focal cortical dysplasia (FCD)-related epilepsy; yet, it has suboptimal outcomes because distinguishing the boundaries between... (Review)
Review
BACKGROUND
Surgery is the best approach to treating focal cortical dysplasia (FCD)-related epilepsy; yet, it has suboptimal outcomes because distinguishing the boundaries between the FCD region and normal brain tissue intraoperatively poses a challenge. The use of intraoperative ultrasound (IOUS) helps demarcate FCD lesion borders leading to more accurate intraoperative resection. In this review, the use of IOUS for the resection of FCD was evaluated.
METHODS
This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The Medline, Embase, Cochrane Library, Scopus Library, and Dynamed Library databases were searched, and two independent reviewers examined the articles. The search terms related to "drug-resistant epilepsy" and "intraoperative ultrasound." The results between January 2008 and April 2022 were abridged for FCD type, ultrasound resolution, extent of lesion resection, correction of brain shift, postoperative neurological deficits, and postoperative seizure freedom (Engel classification).
RESULTS
Ten articles were included in the study. The parameters used to assess the efficacy of IOUS in FCD surgery were ultrasound resolution, demarcation of lesion boundaries, correction of brain shift, postoperative neurological deficits, and seizure freedom. Most studies have shown that IOUS produces high-resolution images. Surgery for Type 2 FCD patients had better outcomes than surgery for Type 1 FCD patients due to better visualization by IOUS. Patients were classified as Engel class 1 or class 2 postoperatively. Eight studies found that IOUS was superior to magnetic resonance imaging in brain shift correction.
CONCLUSION
The preliminary results look promising, especially for the international league against epilepsy class 2 FCD. However, there is a need for more high-quality research evaluating the use of IOUS in FCD and comparing it to other intraoperative imaging modalities.
PubMed: 38840597
DOI: 10.25259/SNI_109_2024