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Ophthalmology May 2024To develop guidelines for ocular surveillance and early intervention for individuals with von Hippel-Lindau (VHL) disease.
PURPOSE
To develop guidelines for ocular surveillance and early intervention for individuals with von Hippel-Lindau (VHL) disease.
DESIGN
Systematic review of the literature.
PARTICIPANTS
Expert panel of retina specialists and ocular oncologists.
METHODS
A consortium of experts on clinical management of all-organ aspects of VHL disease was convened. Working groups with expertise in organ-specific features of VHL disease were tasked with development of evidence-based guidelines for each organ system. The ophthalmology subcommittee formulated questions for consideration and performed a systematic literature review. Evidence was graded for topic quality and relevance and the strength of each recommendation, and guideline recommendations were developed.
RESULTS
The quality of evidence was limited, and no controlled clinical trial data were available. Consensus guidelines included: (1) individuals with known or suspected VHL disease should undergo periodic ocular screening (evidence type, III; evidence strength, C; degree of consensus, 2A); (2) patients at risk of VHL disease, including first-degree relatives of patients with known VHL disease, or any patient with single or multifocal retinal hemangioblastomas (RHs), should undergo genetic testing for pathologic VHL disease gene variants as part of an appropriate medical evaluation (III/C/2A); (3) ocular screening should begin within 12 months after birth and continue throughout life (III/C/2A); (4) ocular screening should occur approximately every 6 to 12 months until 30 years of age and then at least yearly thereafter (III/C-D/2A); (5) ocular screening should be performed before a planned pregnancy and every 6 to 12 months during pregnancy (IV/D/2A); (6) ultra-widefield color fundus photography may be helpful in certain circumstances to monitor RHs, and ultra-widefield fluorescein angiography may be helpful in certain circumstances to detect small RHs (IV/D/2A); (7) patients should be managed, whenever possible, by those with subspecialty training, with experience with VHL disease or RHs, or with both and ideally within the context of a multidisciplinary center capable of providing multiorgan surveillance and access to genetic testing (IV/D/2A); (8) extramacular or extrapapillary RHs should be treated promptly (III/C/2A).
CONCLUSIONS
Based on available evidence from observational studies, broad agreement was reached for a strategy of lifelong surveillance and early treatment for ocular VHL disease. These guidelines were endorsed by the VHL Alliance and the International Society of Ocular Oncology and were approved by the American Academy of Ophthalmology Board of Trustees.
FINANCIAL DISCLOSURE(S)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Topics: Humans; Fluorescein Angiography; Genetic Testing; Hemangioblastoma; Retina; Retinal Neoplasms; von Hippel-Lindau Disease; Von Hippel-Lindau Tumor Suppressor Protein
PubMed: 38092079
DOI: 10.1016/j.ophtha.2023.12.014 -
Sensors (Basel, Switzerland) Aug 2023Capsule endoscopy (CE) is a widely used medical imaging tool for the diagnosis of gastrointestinal tract abnormalities like bleeding. However, CE captures a huge number... (Review)
Review
Capsule endoscopy (CE) is a widely used medical imaging tool for the diagnosis of gastrointestinal tract abnormalities like bleeding. However, CE captures a huge number of image frames, constituting a time-consuming and tedious task for medical experts to manually inspect. To address this issue, researchers have focused on computer-aided bleeding detection systems to automatically identify bleeding in real time. This paper presents a systematic review of the available state-of-the-art computer-aided bleeding detection algorithms for capsule endoscopy. The review was carried out by searching five different repositories (Scopus, PubMed, IEEE Xplore, ACM Digital Library, and ScienceDirect) for all original publications on computer-aided bleeding detection published between 2001 and 2023. The Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) methodology was used to perform the review, and 147 full texts of scientific papers were reviewed. The contributions of this paper are: (I) a taxonomy for computer-aided bleeding detection algorithms for capsule endoscopy is identified; (II) the available state-of-the-art computer-aided bleeding detection algorithms, including various color spaces (RGB, HSV, etc.), feature extraction techniques, and classifiers, are discussed; and (III) the most effective algorithms for practical use are identified. Finally, the paper is concluded by providing future direction for computer-aided bleeding detection research.
Topics: Humans; Capsule Endoscopy; Computers; Computer Systems; Algorithms; Hemorrhage
PubMed: 37631707
DOI: 10.3390/s23167170 -
Survey of Ophthalmology 2024Diagnosis of dysthyroid optic neuropathy (DON) typically relies on a set of diagnostic clinical features, including decreased visual acuity, impaired color vision,... (Review)
Review
Diagnosis of dysthyroid optic neuropathy (DON) typically relies on a set of diagnostic clinical features, including decreased visual acuity, impaired color vision, presence of relative afferent pupillary defect, optic disc swelling and ancillary tests including visual field (VF), pattern visual evoked potential (pVEP), and apical crowding or optic nerve stretching on neuroimaging. We summarize various diagnostic methods to establish or rule out DON. A total of 95 studies (involving 4619 DON eyes) met the inclusion criteria. All of the studies considered clinical features as evidence of DON, while most of the studies confirmed DON diagnosis by combining clinical features with ancillary tests. Forty studies (42.1%) used at least 2 out of the 3 tests (VF, pVEP and neuroimaging) and 13 studies (13.7%) used all 3 tests to diagnose DON. In 64 % of the published studies regarding DON, the diagnostic methods of DON were not specified. It is important to note the limitations of relying solely on clinical features for diagnosing DON. On the other hand, since some eyes with optic neuropathy can be normal in one ancillary test, but abnormal in another, using more than one ancillary test to aid diagnosis is crucial and should be interpreted in correlation with clinical features. We found that the diagnostic methods of DON in most studies involved using a combination of specific clinical features and at least 2 ancillary tests.
Topics: Humans; Optic Nerve Diseases; Graves Ophthalmopathy; Evoked Potentials, Visual; Diagnostic Techniques, Ophthalmological; Visual Fields; Visual Acuity
PubMed: 38007201
DOI: 10.1016/j.survophthal.2023.11.009 -
International Journal of Pediatric... Dec 2023Internal jugular vein phlebectasia (IJVP) is a rare type of vascular abnormality that causes dilatation of internal jugular vein in the neck. There is presently no... (Review)
Review
OBJECTIVES
Internal jugular vein phlebectasia (IJVP) is a rare type of vascular abnormality that causes dilatation of internal jugular vein in the neck. There is presently no consensus on the most effective method of treatment for this condition, that is commonly seen in children. We conducted a systematic review of the literature reported till date to comprehend the key features of IJVP and its most effective therapeutic modalities.
METHODS
Five databases were searched until October 10, 2022 for articles of any design (including case reports) reporting IJVP in pediatric subjects. Individual patient data on demographics, clinical features of this entity and the differential diagnosis, methods of imaging, management, and outcome of illness were recorded. The quality assessment was performed using the Joanna Briggs Institute's Critical Appraisal Checklist for studies.
RESULTS
A total of 51 articles including 169 cases were retrieved and included in the analysis. Of the 169 patients, most of them were male children, and in 77% of cases right internal Juglar vein was involved. All patients had some symptoms suggestive of IJVP with most common ones being neck swelling or tenderness, and difficulty in breathing. In 90% of cases, it was observed that the neck swelling typically increases in size with Valsalva maneuver. Once jugular vein phlebectasia was clinically suspected, ultrasonography, CECT, or color Doppler flow imaging were used to confirm the diagnosis. The management of most of the cases was either conservative or surgical, and in surgery mostly ligation was performed. There have not been any cases of serious complications, therefore, according to included studies, a conservative approach is recommended with continuous monitoring. Out of the 51 studies included, most of them had low risk of bias.
CONCLUSION
Internal jugular vein phlebectasia, a rare benign condition, is most commonly found in children, and affects predominantly the right internal jugular vein. Although most patients did well with merely conservative treatment, still management of this vascular anomaly has to be on a case-by-case basis.
Topics: Child; Humans; Male; Female; Jugular Veins; Varicose Veins; Dilatation, Pathologic; Conservative Treatment; Brachiocephalic Veins; Heart Diseases
PubMed: 37871464
DOI: 10.1016/j.ijporl.2023.111720 -
Survey of Ophthalmology 2023Congenital aniridia is a rare, panocular disorder with a main phenotypic characteristic of a partial or complete absence of the iris existing alongside other ocular...
Congenital aniridia is a rare, panocular disorder with a main phenotypic characteristic of a partial or complete absence of the iris existing alongside other ocular morbidities such as cataract, keratopathy, optic nerve and foveal hypoplasia, and nystagmus. The iris abnormality, however, often leads to symptoms such as photophobia, glare, and decreased visual acuity, as well as cosmetic dissatisfaction. Current management options for the iris deficit include colored iris contact lenses, corneal tattooing, and tinted contact lenses. Symptoms arising from small iris defects can be resolved with surgical management using micro-tying suture techniques such as McCannel or Siepser. Currently, larger iris defects can be treated with artificial iris implants. New prosthetic options range from colored intraocular lenses to flexible custom-made silicone iris implants. With a range of therapeutic options available and given the challenges of multiple comorbidities in aniridia, we evaluate the literature relating to the use of artificial iris implants in congenital aniridia, with a focus on the different surgical implantation techniques, the clinical outcomes achieved, complications occurred, and risk of bias of the studies included.
Topics: Humans; Visual Acuity; Aniridia; Iris; Lenses, Intraocular; Prosthesis Implantation; Vision Disorders
PubMed: 36379301
DOI: 10.1016/j.survophthal.2022.11.001 -
Journal of Plastic, Reconstructive &... Mar 2024Implant-based breast augmentations and reconstructions are one of the most common surgical procedures performed by plastic surgeons in the United States, which has... (Review)
Review
INTRODUCTION
Implant-based breast augmentations and reconstructions are one of the most common surgical procedures performed by plastic surgeons in the United States, which has rapidly increased in popularity since the 2000s. Silicone lymphadenopathy (SL) is a complication of breast implants that involves migration of silicone to nearby soft tissue/lymph nodes. Data on its clinical features and management is scarce.
METHODS
SL-related search terms were used to find articles in 3 databases. Of 598 articles, 101 studies met the inclusion criteria. Demographics, clinical presentation, workup, and management data were analyzed.
RESULTS
Of 279 cases of SL and 107 with information on initial diagnosis, 35 (33%) were incidental. The most common symptom was painless lymphadenopathy, followed by painful lymphadenopathy. 251 (95%) and 13 (5%) patients had silicone and saline implants, respectively. 149 (68%) patients had implant rupture. Axillary lymphadenopathy was the most affected region (136 cases, 72%), followed by internal mammary (40 cases, 21%), cervical/supraclavicular (36 cases, 19%), and mediastinal (24 cases, 13%) regions. 25% of patients underwent fine-needle aspiration, 12% core needle biopsy, and 59% excisional biopsy. 32% of cases underwent explantation and/or implant exchange. The most common indication for surgery was implant rupture. Histology showed multinucleated giant cells, large histiocytes, and silicone accumulation.
CONCLUSIONS
SL is a complication associated with breast implants. The majority of patients are asymptomatic, and most cases are managed conservatively. Minority need a biopsy and surgical interventions due to abnormal imaging, persistent symptoms, and/or implant rupture. Workup and management should be tailored to the patient.
Topics: Humans; Silicone Gels; Prevalence; Lymphadenopathy; Breast Implants; Breast Implantation
PubMed: 38364672
DOI: 10.1016/j.bjps.2024.01.011 -
Medicine Jul 2023This meta-analysis aimed to investigate the diagnostic value of color ultrasound screening for fetal cardiovascular abnormalities during the second trimester in China. (Meta-Analysis)
Meta-Analysis
BACKGROUND
This meta-analysis aimed to investigate the diagnostic value of color ultrasound screening for fetal cardiovascular abnormalities during the second trimester in China.
METHODS
A literature search was conducted to evaluate the clinical value of color ultrasound screening for fetal cardiovascular abnormalities during the second trimester using English and Chinese databases. Numerical values for sensitivity and specificity were obtained from false-negative, false-positive, true-negative, and true-positive rates, presented alongside graphical representations with boxes marking the values and horizontal lines showing the confidence intervals. Summary receiver operating characteristic (SROC) curves were applied to assess the performance of the diagnostic tests. Data were processed using Review Manager 5.3.
RESULTS
Four studies (151 patients with fetal cardiovascular abnormalities and 3397 undiagnosed controls) met our evaluation criteria. The sensitivity was 0.91 and 0.96, respectively, and the specificity was 1.00. The Area Under the Curve (AUC) from the SROC curves was >90%; therefore, it was classified as excellent. Furthermore, there were 6 types of fetal cardiovascular abnormalities, and the pooled screening rate of atrioventricular septal defects was the highest.
CONCLUSION
Our meta-analysis showed that the use of color ultrasound during the second trimester can be an excellent diagnostic tool for fetal cardiovascular abnormalities.
Topics: Female; Humans; Pregnancy; Cardiovascular Abnormalities; Pregnancy Trimester, Second; Sensitivity and Specificity; Ultrasonography, Doppler, Color; Ultrasonography, Prenatal
PubMed: 37443473
DOI: 10.1097/MD.0000000000034211 -
PloS One 2024Wound healing monitoring for abnormality identification and intervention is crucial to securing a successful surgical outcome. Indices have been used to summarize the...
UNLABELLED
Wound healing monitoring for abnormality identification and intervention is crucial to securing a successful surgical outcome. Indices have been used to summarize the degree of healing. Given the increasing frequency of regenerative procedures which preserve dentition and implant stability, and the higher esthetic demands, an appraisal of the available indices is needed to identify the current knowledge gap. This study aimed to systematically review published oral wound healing indices and scores.
MATERIALS AND METHODS
A complete literature electronic search in 5 databases was conducted by two reviewers. A combination of keywords related to oral wound healing was used.
RESULTS
A total of 11 articles were included in the evaluation of various procedures (conventional periodontal procedures, guided tissue regeneration, soft tissue reconstruction procedures, and tooth extractions), at different time points (1 day to 12 weeks), with a focus on diverse clinical signs and symptoms. Frequently evaluated parameters included wound dehiscence/epithelialization (91%), tissue color (redness) (73%), suppuration (55%), swelling/edema (55%), and hemostasis (55%). Other less commonly used parameters include esthetics-related and patient-centered outcomes.
CONCLUSION
The available indices evaluate a diverse group of subjective clinical signs and symptoms to estimate the underlying biological healing events and assess the degree of clinical success. The majority of the included indices are not validated. Quantitative and objective subclinical parameters including blood perfusion, biomaterial stability, and completeness of epithelialization, are needed for customized wound healing care and better outcome prediction.
Topics: Humans; Wound Healing; Plastic Surgery Procedures; Tooth; Biocompatible Materials
PubMed: 38330054
DOI: 10.1371/journal.pone.0290050 -
Academic Radiology May 2024Contrast-enhanced ultrasound (CEUS) has been increasingly used for the diagnostic identification of neoplasms due to its ability to visualize the microvascularization of... (Review)
Review
PURPOSE
Contrast-enhanced ultrasound (CEUS) has been increasingly used for the diagnostic identification of neoplasms due to its ability to visualize the microvascularization of lesions. In the study of testicular abnormalities, the appropriate use of CEUS can improve the diagnostic accuracy of conventional gray-scale ultrasound and color Doppler ultrasound (CDUS). The purpose of this study is to comprehensively evaluate the diagnostic performance of CEUS in testicular space-occupying lesions.
METHODS
A comprehensive search of PubMed, Embase, Cochrane Library, and Web of Science databases was conducted from the inception of each database to November 16, 2022 for relevant studies. The required data were extracted, and the methodological quality of the studies was assessed using the QUADAS-2 tool. The diagnostic value of CEUS was assessed by calculating the combined sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, and diagnostic odds ratio, and a summary receiver operating characteristic (SROC) curve was used to conduct this meta-analysis.
RESULTS
A total of six studies with 354 testicular space-occupying lesions were included in the analysis. The results showed that CEUS could provide additional useful information for the diagnosis of testicular space-occupying lesions, with a sensitivity of 0.92 (95% CI:0.82, 0.97), specificity of 0.91 (95% CI:0.80, 0.96), diagnostic odds ratio of 114 (95% CI:25, 528), respectively, and an overall diagnostic accuracy expressed as area under the SROC curve (AUC) of 0.97 (95% CI:0.95-0.98). Significant heterogeneity was seen in the sensitivity with I = 82.53% (95% CI:69.44-95.61). Subgroup analysis revealed that the proportion of infertile patients selected may be the source of heterogeneity.
CONCLUSION
CEUS can be used to diagnose testicular space-occupying lesions more accurately and improve diagnostic accuracy when the conventional US cannot accurately differentiate the type of lesion. In particular, CEUS should be recommended for the identification of microscopic lesions so that physicians can provide patients with more appropriate interventions to avoid unnecessary orchiectomy.
PubMed: 38714430
DOI: 10.1016/j.acra.2024.04.030 -
Archives de Pediatrie : Organe Officiel... Aug 2023Multiple causes of congenital neonatal cholestasis have been identified, and are classified as extrahepatic or intrahepatic. Biliary atresia (BA), Alagille syndrome...
Multiple causes of congenital neonatal cholestasis have been identified, and are classified as extrahepatic or intrahepatic. Biliary atresia (BA), Alagille syndrome (AGS), and progressive familial intrahepatic cholestasis (PFIC) are the most common of these. Many factors associated with cholestatic diseases are known to degrade the oral health of these children. What are the oral manifestations associated with these diseases in the pediatric population? The aim of this article was to evaluate the impact of congenital cholestasis on oral health in pediatric patients. A systematic review of case reports and case series was carried out in PubMed, the Cochrane Library, and the Web of Science to identify relevant articles in French and English published up to April 2022. The review included 19 studies, 16 case reports, and three case series. Only studies dealing with BA and AGS were found. These studies showed an impact on jaw morphology, dental structure, and periodontal health. The facial dysmorphism observed in AGS was specific. Exposure to high levels of bilirubin during the period of dental calcification led to particular coloration. Regarding periodontal status, gingival inflammation was common in these patients, probably resulting from the use of certain treatment-associated drugs and poor oral hygiene. Cohort studies are needed to confirm the classification of these children as being at high individual risk of caries. Many major oral manifestations are found in children with AGS and BA, confirming the need to include a dentist in the care team of patients with congenital cholestatic disease as early as possible. It appears necessary to carry out individual prospective studies of each phenotype in order to confirm and better describe the oral impact of these cholestatic diseases and provide adequate medical care.
Topics: Child; Humans; Infant, Newborn; Biliary Atresia; Prospective Studies; Cholestasis; Cholestasis, Intrahepatic; Alagille Syndrome
PubMed: 37394364
DOI: 10.1016/j.arcped.2023.06.003