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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 -
Cardiovascular and Interventional... Aug 2018Sclerotherapy has become an important treatment option in the management of vascular malformations. However, little is known about success rate for treatment of venous... (Review)
Review
OBJECTIVE
Sclerotherapy has become an important treatment option in the management of vascular malformations. However, little is known about success rate for treatment of venous malformations. This systematic review assesses the available published literature on outcome measures of sclerotherapy for venous malformations.
DATA SOURCE
PubMed and EMBASE.
REVIEW METHOD
A systematic search was conducted, and studies from March 2008 to October 2016 were included. Based on the identified search results, study selection, data extraction, and assessment of study quality were, according to PRISMA, undertaken independently by two reviewers.
RESULTS
One randomized controlled trial and 44 cohort studies were included. The most frequently used measuring methods were subjective measurements, objective measurements, imaging like MRI and ultrasound, and finally patient reported outcome measure survey. Approximately 60% of the studies used more than one measuring method. Outcome measures were pain, swelling, disfigurement, cosmetic complains, patient satisfaction, physical difficulties, volume, diameter, mass, color, shape, size, venous flow, occlusion of venous space, blood pool ratio, and radioisotope uptake.
CONCLUSIONS
The published literature over the past 10 years shows no clear method to evaluate the effect of sclerotherapy for venous malformation. We suggest that a standard set of outcome measures should be defined.
Topics: Adult; Female; Humans; Male; Patient Satisfaction; Sclerotherapy; Treatment Outcome; Vascular Malformations
PubMed: 29492631
DOI: 10.1007/s00270-018-1919-y -
International Journal of Environmental... Feb 2022Regional odontodysplasia is a rare developmental disorder characterised by hypoplasia and hypomineralisation of enamel and dentin. Our systematic review aimed to... (Review)
Review
Regional odontodysplasia is a rare developmental disorder characterised by hypoplasia and hypomineralisation of enamel and dentin. Our systematic review aimed to organise the knowledge on localisation, symptomatology and treatment methods in patients with regional odontodysplasia based on case reports published in the databases PubMed, Scopus and Web of Science. Case reports were described in 28 different countries, considering 180 patients (including 91 females). Regional odontodysplasia occurs mainly in both deciduous and permanent dentition (66.1%). The affected teeth were observed more frequently in the maxilla (70.0%), especially on the left side (45.6%). The most common reported symptoms were ghost teeth, poorly developed buds, yellowish-brown colour of crowns and delayed eruption of permanent teeth in affected quadrants. The most popular treatment method was surgical treatment (78.6%) with subsequent prosthetic therapy (34.6%). Based on the review of cases, pathognomonic clinical and radiological signs can be found, however, it is difficult to reach a consensus on the choice of treatment method.
Topics: Bibliometrics; Dentition, Permanent; Female; Humans; Maxilla; Odontodysplasia; Radiography; Tooth, Deciduous
PubMed: 35162705
DOI: 10.3390/ijerph19031683 -
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 -
Human Reproduction Update 2015Infertility affects ∼7% of all men. Despite much progress, mainly in genetics, its etiology remains obscure in ∼50% of cases. To fill this gap, imaging of the male... (Review)
Review
BACKGROUND
Infertility affects ∼7% of all men. Despite much progress, mainly in genetics, its etiology remains obscure in ∼50% of cases. To fill this gap, imaging of the male genital tract (MGT) has progressively expanded, providing useful information in the assessment of MGT abnormalities.
METHODS
A critical, systematic review of the available literature was performed using Medline, with no restrictions regarding date of publication (i.e. from inception date until March 2014), along with analysis of previous reports in color Doppler ultrasound (CDUS) atlas textbooks. Normal anatomy and sonographic characteristics of the MGT have also been summarized.
RESULTS
Testicular volume (TV) is tightly associated with both sperm and hormonal parameters. Ultrasound (US) offers a greater accuracy in TV measurement than Prader orchidometer (PO). However US- and PO-derived TV are closely related, making PO-derived TV informative enough in the work-up of the infertile man in everyday clinical practice. US-derived TV might play an independent role in specific clinical conditions (i.e. large hydrocele, inguinal testis, enlarged epididymis). Scrotal US may detect signs of testicular dysgenesis, often related to an impaired spermatogenesis and to a higher risk of malignancy, or testicular lesions suggestive of malignancy. A decreased testis vascularization is characteristic of testicular torsion, whereas hyperemia is often observed in epididymo-orchitis or in some malignant conditions (i.e. lymphoma, leukemia). The impact of varicocele detection and surgical correction on sperm parameters/fatherhood is debated. At present, the clinical management of varicocele is mainly based on physical examination. However, CDUS is useful in assessing venous reflux, when palpation is unreliable and/or in detecting recurrence/persistence after surgery. Epididymis head and/or tail dilation is suggestive of MGT obstruction or inflammation and both are related, along with echo-texture abnormalities, to impaired sperm parameters. Scrotal and transrectal US (TRUS) are useful in detecting congenital uni- or bilateral absence of vas deferens (CBAVD), which may be associated with epididymis, seminal vesicles (SV) or kidney abnormalities/agenesis. TRUS plays a key role in assessing obstructive azoospermia and detecting distal CBAVD or anomalies related to ejaculatory ducts obstruction, such as ejaculatory duct abnormalities, prostate median cysts or SV enlargement/emptying impairment. TRUS findings lead to operational decision-making, such as testicular sperm extraction in the case of CBAVD, cyst aspiration in the case of a large prostatic median cyst, and surgical treatment if ejaculatory duct abnormalities are observed. TRUS may reveal prostate volume reduction (suggestive of hypogonadism) or enlargement, which can be related to aging or even metabolic abnormalities. Finally, TRUS may reveal prostate and SV echo-texture abnormalities suggestive of inflammation or SV stasis.
CONCLUSIONS
MGT-CDUS is a useful tool in detecting abnormalities related to impaired male reproductive health. However, it suffers from a lack of standardization and often produces subjective/vague diagnoses. To fill this gap, the European Academy of Andrology has promoted an ongoing multicenter study aimed at defining the MGT-CDUS characteristics of healthy, fertile men.
Topics: Azoospermia; Ejaculatory Ducts; Epididymis; Genital Diseases, Male; Genitalia, Male; Humans; Infertility, Male; Male; Men's Health; Organ Size; Reproductive Health; Seminal Vesicles; Testis; Ultrasonography, Doppler, Color; Varicocele
PubMed: 25038770
DOI: 10.1093/humupd/dmu042 -
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 -
Health Technology Assessment... Dec 2014Age-related macular degeneration is the most common cause of sight impairment in the UK. In neovascular age-related macular degeneration (nAMD), vision worsens rapidly... (Review)
Review
Optical coherence tomography for the diagnosis, monitoring and guiding of treatment for neovascular age-related macular degeneration: a systematic review and economic evaluation.
BACKGROUND
Age-related macular degeneration is the most common cause of sight impairment in the UK. In neovascular age-related macular degeneration (nAMD), vision worsens rapidly (over weeks) due to abnormal blood vessels developing that leak fluid and blood at the macula.
OBJECTIVES
To determine the optimal role of optical coherence tomography (OCT) in diagnosing people newly presenting with suspected nAMD and monitoring those previously diagnosed with the disease.
DATA SOURCES
Databases searched: MEDLINE (1946 to March 2013), MEDLINE In-Process & Other Non-Indexed Citations (March 2013), EMBASE (1988 to March 2013), Biosciences Information Service (1995 to March 2013), Science Citation Index (1995 to March 2013), The Cochrane Library (Issue 2 2013), Database of Abstracts of Reviews of Effects (inception to March 2013), Medion (inception to March 2013), Health Technology Assessment database (inception to March 2013).
REVIEW METHODS
Types of studies: direct/indirect studies reporting diagnostic outcomes.
INDEX TEST
time domain optical coherence tomography (TD-OCT) or spectral domain optical coherence tomography (SD-OCT).
COMPARATORS
clinical evaluation, visual acuity, Amsler grid, colour fundus photographs, infrared reflectance, red-free images/blue reflectance, fundus autofluorescence imaging, indocyanine green angiography, preferential hyperacuity perimetry, microperimetry. Reference standard: fundus fluorescein angiography (FFA). Risk of bias was assessed using quality assessment of diagnostic accuracy studies, version 2. Meta-analysis models were fitted using hierarchical summary receiver operating characteristic curves. A Markov model was developed (65-year-old cohort, nAMD prevalence 70%), with nine strategies for diagnosis and/or monitoring, and cost-utility analysis conducted. NHS and Personal Social Services perspective was adopted. Costs (2011/12 prices) and quality-adjusted life-years (QALYs) were discounted (3.5%). Deterministic and probabilistic sensitivity analyses were performed.
RESULTS
In pooled estimates of diagnostic studies (all TD-OCT), sensitivity and specificity [95% confidence interval (CI)] was 88% (46% to 98%) and 78% (64% to 88%) respectively. For monitoring, the pooled sensitivity and specificity (95% CI) was 85% (72% to 93%) and 48% (30% to 67%) respectively. The FFA for diagnosis and nurse-technician-led monitoring strategy had the lowest cost (£ 39,769; QALYs 10.473) and dominated all others except FFA for diagnosis and ophthalmologist-led monitoring (£ 44,649; QALYs 10.575; incremental cost-effectiveness ratio £ 47,768). The least costly strategy had a 46.4% probability of being cost-effective at £ 30,000 willingness-to-pay threshold.
LIMITATIONS
Very few studies provided sufficient information for inclusion in meta-analyses. Only a few studies reported other tests; for some tests no studies were identified. The modelling was hampered by a lack of data on the diagnostic accuracy of strategies involving several tests.
CONCLUSIONS
Based on a small body of evidence of variable quality, OCT had high sensitivity and moderate specificity for diagnosis, and relatively high sensitivity but low specificity for monitoring. Strategies involving OCT alone for diagnosis and/or monitoring were unlikely to be cost-effective. Further research is required on (i) the performance of SD-OCT compared with FFA, especially for monitoring but also for diagnosis; (ii) the performance of strategies involving combinations/sequences of tests, for diagnosis and monitoring; (iii) the likelihood of active and inactive nAMD becoming inactive or active respectively; and (iv) assessment of treatment-associated utility weights (e.g. decrements), through a preference-based study.
STUDY REGISTRATION
This study is registered as PROSPERO CRD42012001930.
FUNDING
The National Institute for Health Research Health Technology Assessment programme.
Topics: Cost-Benefit Analysis; Fluorescein Angiography; Humans; Macular Degeneration; Models, Econometric; Quality-Adjusted Life Years; Tomography, Optical Coherence; Visual Acuity
PubMed: 25436855
DOI: 10.3310/hta18690 -
Ultrasound in Obstetrics & Gynecology :... Jul 2018The aims of this study were to review systematically literature on and describe the sonographic features and associated anomalies of total (TAPVC) and partial (PAPVC)... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
The aims of this study were to review systematically literature on and describe the sonographic features and associated anomalies of total (TAPVC) and partial (PAPVC) anomalous pulmonary venous connection and scimitar syndrome (SS).
METHODS
A retrospective cohort study was carried out of cases of TAPVC, PAPVC and SS that underwent comprehensive ultrasound examination, seen over a 20-year period at two tertiary referral centers. Assessed variables included TAPVC subtype, gestational age at diagnosis, area behind the left atrium, ventricular disproportion, vertical vein, pulmonary venous obstruction, mode of diagnosis, association with cardiac and extracardiac conditions, and pregnancy and fetoneonatal outcomes. The outcome was considered favorable if the individual was alive and well (no functional impairment from surgery or cardiac or extracardiac conditions). Cases associated with right isomerism were excluded from the analysis, as TAPVC in these cases was only one of several major cardiac anomalies affecting sonographic signs. A systematic review was performed in order to obtain a synthesis of characteristics associated with TAPVC, PAPVC and SS. The literature search of PubMed and EMBASE (1970-2016) included reviews, case series and case reports. A meta-analysis was conducted only for TAPVC. Random-effects models were used to obtain pooled estimates of the frequencies of clinical characteristics and sonographic features.
RESULTS
For TAPVC, a total of 15 studies involving 71 patients (including 13 from the current cohort study) were included in the systematic review and meta-analysis. The pooled estimate for the association of TAPVC with congenital heart disease was 28.3% (95% CI, 18.1-41.3%) and with extracardiac anomalies it was 18.5% (95% CI, 10.5-30.6%). Of TAPVC cases, obstructed venous return was observed in 34.1% (95% CI, 22.7-47.7%), a favorable outcome in 43.8% (95% CI, 24.0-65.8%), ventricular disproportion in 59.2% (95% CI, 45.1-72.0%), increased area behind the left atrium in 58.1% (95% CI, 41.1-73.5%) and a vertical vein in 59.3% (95% CI, 41.1-75.3%). Diagnosis was established by using color or power Doppler in 84.9% (95% CI, 67.3-93.9%) of cases. For SS, there were only three studies describing eight cases, to which the current study added another five. Ventricular disproportion was present in three out of nine SS cases for which data were available, but for two of these, there was a concurrent heart anomaly. Color Doppler was used for all SS diagnoses, and four-dimensional echocardiography was useful in two out of six cases in which it was used. Outcome for SS cases was generally good. For PAPVC, there were only five studies describing five cases, to which the current study added another two. Major cardiac anomalies were associated in four out of seven of these cases, and extracardiac anomalies in three out of six cases for which data were available.
CONCLUSIONS
TAPVC can be associated with other cardiac and extracardiac anomalies in a significant percentage of cases. Leading sonographic signs are ventricular disproportion, increased area behind the left atrium and the finding of a vertical vein. Color/power Doppler is the key mode for diagnosis of TAPVC. Obstructed venous return can be expected in roughly one-third of cases of TAPVC and outcome is favorable in less than half of cases. Data for SS and PAPVC are too few to synthesize. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Echocardiography, Doppler, Color; Female; Gestational Age; Heart Defects, Congenital; Humans; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Pulmonary Veins; Retrospective Studies; Scimitar Syndrome
PubMed: 28926132
DOI: 10.1002/uog.18907 -
Genetics in Medicine : Official Journal... Mar 2022This study aimed to systematically review and summarize gene therapy treatment for monogenic retinal and optic nerve diseases. (Review)
Review
PURPOSE
This study aimed to systematically review and summarize gene therapy treatment for monogenic retinal and optic nerve diseases.
METHODS
This review was prospectively registered (CRD42021229812). A comprehensive literature search was performed in Ovid MEDLINE, Ovid Embase, Cochrane Central, and clinical trial registries (February 2021). Clinical studies describing DNA-based gene therapy treatments for monogenic posterior ocular diseases were eligible for inclusion. Risk of bias evaluation was performed. Data synthesis was undertaken applying Synthesis Without Meta-analysis guidelines.
RESULTS
This study identified 47 full-text publications, 50 conference abstracts, and 54 clinical trial registry entries describing DNA-based ocular gene therapy treatments for 16 different genetic variants. Study summaries and visual representations of safety and efficacy outcomes are presented for 20 unique full-text publications in RPE65-mediated retinal dystrophies, choroideremia, Leber hereditary optic neuropathy, rod-cone dystrophy, achromatopsia, and X-linked retinoschisis. The most common adverse events were related to lid/ocular surface/cornea abnormalities in subretinal gene therapy trials and anterior uveitis in intravitreal gene therapy trials.
CONCLUSION
There is a high degree of variability in ocular monogenic gene therapy trials with respect to study design, statistical methodology, and reporting of safety and efficacy outcomes. This review improves the accessibility and transparency in interpreting gene therapy trials to date.
Topics: Color Vision Defects; Genetic Therapy; Humans; Optic Nerve Diseases; Retina; Retinal Dystrophies
PubMed: 34906485
DOI: 10.1016/j.gim.2021.10.013