-
RoFo : Fortschritte Auf Dem Gebiete Der... Sep 2018Vascular anomalies are a diagnostic and therapeutic challenge. They require dedicated interdisciplinary management. Optimal patient care relies on integral medical... (Review)
Review
BACKGROUND
Vascular anomalies are a diagnostic and therapeutic challenge. They require dedicated interdisciplinary management. Optimal patient care relies on integral medical evaluation and a classification system established by experts in the field, to provide a better understanding of these complex vascular entities.
METHOD
A dedicated classification system according to the International Society for the Study of Vascular Anomalies (ISSVA) and the German Interdisciplinary Society of Vascular Anomalies (DiGGefA) is presented. The vast spectrum of diagnostic modalities, ranging from ultrasound with color Doppler, conventional X-ray, CT with 4 D imaging and MRI as well as catheter angiography for appropriate assessment is discussed.
RESULTS
Congenital vascular anomalies are comprised of vascular tumors, based on endothelial cell proliferation and vascular malformations with underlying mesenchymal and angiogenetic disorder. Vascular tumors tend to regress with patient's age, vascular malformations increase in size and are subdivided into capillary, venous, lymphatic, arterio-venous and combined malformations, depending on their dominant vasculature. According to their appearance, venous malformations are the most common representative of vascular anomalies (70 %), followed by lymphatic malformations (12 %), arterio-venous malformations (8 %), combined malformation syndromes (6 %) and capillary malformations (4 %).
CONCLUSION
The aim is to provide an overview of the current classification system and diagnostic characterization of vascular anomalies in order to facilitate interdisciplinary management of vascular anomalies.
KEY POINTS
· Vascular anomalies are comprised of vascular tumors and vascular malformations, both considered to be rare diseases.. · Appropriate treatment depends on correct classification and diagnosis of vascular anomalies, which is based on established national and international classification systems, recommendations and guidelines.. · In the classification, diagnosis and treatment of congenital vascular anomalies, radiology plays an integral part in patient management..
CITATION FORMAT
· Sadick M, Müller-Wille R, Wildgruber M et al. Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies. Fortschr Röntgenstr 2018; 190: 825 - 835.
Topics: Abnormalities, Multiple; Adult; Arteriovenous Malformations; Child; Diagnosis, Differential; Diagnostic Imaging; Humans; Lymphatic Abnormalities; Rare Diseases; Syndrome; Vascular Malformations; Vascular Neoplasms
PubMed: 29874693
DOI: 10.1055/a-0620-8925 -
The Journal of International Medical... Oct 2020Dental fluorosis is a dental condition caused by excessive intake of fluoride during enamel formation, which can lead to color abnormalities or defects on the tooth...
Dental fluorosis is a dental condition caused by excessive intake of fluoride during enamel formation, which can lead to color abnormalities or defects on the tooth surface. The resultant abnormal appearance ranges in severity from mildly white and opaque to dark brown, which substantially affects patients' esthetic characteristics and self-confidence. Treatment methods include tooth whitening or restoration. This clinical report describes the use of a minimally invasive esthetic technique in a 22-year-old woman with moderate dental fluorosis. The treatment plan included enamel microabrasion, at-home bleaching for 2 weeks, and subsequent resin infiltration for each tooth under a rubber dam. After 2 years of follow-up, evaluation of the patient's esthetic appearance revealed that teeth affected by dental fluorosis could be successfully treated with a minimally invasive technique involving microabrasion, at-home bleaching, and resin infiltration.
Topics: Adult; Enamel Microabrasion; Esthetics; Esthetics, Dental; Female; Fluorosis, Dental; Humans; Tooth Bleaching; Young Adult
PubMed: 33121307
DOI: 10.1177/0300060520967538 -
Ultrasound in Obstetrics & Gynecology :... Dec 2020To describe the clinical and ultrasound characteristics of adnexal torsion.
OBJECTIVES
To describe the clinical and ultrasound characteristics of adnexal torsion.
METHODS
This was a retrospective study. From the operative records of the eight participating gynecological ultrasound centers, we identified patients with a surgically confirmed diagnosis of adnexal torsion, defined as surgical evidence of ovarian pedicle, paraovarian cyst and/or Fallopian tube twisted on its own axis, who had undergone preoperative ultrasound examination by an experienced examiner, between 2008 and 2018. Only cases with at least two available ultrasound images and/or videoclips (one grayscale and one with Doppler evaluation) were included. Clinical, ultrasound, surgical and histological information was retrieved from each patient's medical record and entered into an Excel file by the principal investigator at each center. In addition, two authors reviewed all available ultrasound images and videoclips of the twisted adnexa, with regard to the presence of four predefined ultrasound features reported to be characteristic of adnexal torsion: (1) ovarian stromal edema with or without peripherally displaced antral follicles, (2) the follicular ring sign, (3) the whirlpool sign and (4) absence of vascularization in the twisted organ.
RESULTS
A total of 315 cases of adnexal torsion were identified. The median age of the patients was 30 (range, 1-88) years. Most patients were premenopausal (284/314; 90.4%) and presented with acute or subacute pelvic pain (305/315; 96.8%). The surgical approach was laparoscopic in 239/312 (76.6%) patients and conservative surgery (untwisting with or without excision of a lesion) was performed in 149/315 (47.3%) cases. According to the original ultrasound reports, the median largest diameter of the twisted organ was 83 (range, 30-349) mm. Free fluid in the pouch of Douglas was detected in 196/275 (71.3%) patients. Ovarian stromal edema with or without peripherally displaced antral follicles was reported in the original ultrasound report in 167/241 (69.3%) patients, the whirlpool sign in 178/226 (78.8%) patients, absent color Doppler signals in the twisted organ in 119/269 (44.2%) patients and the follicular ring sign in 51/134 (38.1%) patients. On retrospective review of images and videoclips, ovarian stromal edema with or without peripherally displaced antral follicles (201/254; 79.1%) and the whirlpool sign (139/153; 90.8%) were the most commonly detected features of adnexal torsion.
CONCLUSION
Most patients with surgically confirmed adnexal torsion are of reproductive age and present with acute or subacute pain. Common ultrasound signs are an enlarged adnexa, the whirlpool sign, ovarian stromal edema with or without peripherally displaced antral follicles and free fluid in the pelvis. The follicular ring sign and absence of Doppler signals in the twisted organ are slightly less common signs. Recognizing ultrasound signs of adnexal torsion is important so that the correct treatment, i.e. surgery without delay, can be offered. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Adnexa Uteri; Adult; Aged; Aged, 80 and over; Diagnosis, Differential; Female; Humans; Middle Aged; Ovarian Torsion; Pelvic Pain; Retrospective Studies; Ultrasonography, Doppler; Urogenital Abnormalities; Uterus
PubMed: 31975482
DOI: 10.1002/uog.21981 -
Ultrasound in Obstetrics & Gynecology :... Jan 2022To determine the diagnostic accuracy of ultrasound at 11-14 weeks' gestation in the detection of fetal cardiac abnormalities and to evaluate factors that impact the... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
To determine the diagnostic accuracy of ultrasound at 11-14 weeks' gestation in the detection of fetal cardiac abnormalities and to evaluate factors that impact the detection rate.
METHODS
This was a systematic review of studies evaluating the diagnostic accuracy of ultrasound in the detection of fetal cardiac anomalies at 11-14 weeks' gestation, performed by two independent reviewers. An electronic search of four databases (MEDLINE, EMBASE, Web of Science Core Collection and The Cochrane Library) was conducted for studies published between January 1998 and July 2020. Prospective and retrospective studies evaluating pregnancies at any prior level of risk and in any healthcare setting were eligible for inclusion. The reference standard used was the detection of a cardiac abnormality on postnatal or postmortem examination. Data were extracted from the included studies to populate 2 × 2 tables. Meta-analysis was performed using a random-effects model in order to determine the performance of first-trimester ultrasound in the detection of major cardiac abnormalities overall and of individual types of cardiac abnormality. Data were analyzed separately for high-risk and non-high-risk populations. Preplanned secondary analyses were conducted in order to assess factors that may impact screening performance, including the imaging protocol used for cardiac assessment (including the use of color-flow Doppler), ultrasound modality, year of publication and the index of sonographer suspicion at the time of the scan. Risk of bias and quality assessment were undertaken for all included studies using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) tool.
RESULTS
The electronic search yielded 4108 citations. Following review of titles and abstracts, 223 publications underwent full-text review, of which 63 studies, reporting on 328 262 fetuses, were selected for inclusion in the meta-analysis. In the non-high-risk population (45 studies, 306 872 fetuses), 1445 major cardiac anomalies were identified (prevalence, 0.41% (95% CI, 0.39-0.43%)). Of these, 767 were detected on first-trimester ultrasound examination of the heart and 678 were not detected. First-trimester ultrasound had a pooled sensitivity of 55.80% (95% CI, 45.87-65.50%), specificity of 99.98% (95% CI, 99.97-99.99%) and positive predictive value of 94.85% (95% CI, 91.63-97.32%) in the non-high-risk population. The cases diagnosed in the first trimester represented 63.67% (95% CI, 54.35-72.49%) of all antenatally diagnosed major cardiac abnormalities in the non-high-risk population. In the high-risk population (18 studies, 21 390 fetuses), 480 major cardiac anomalies were identified (prevalence, 1.36% (95% CI, 1.20-1.52%)). Of these, 338 were detected on first-trimester ultrasound examination and 142 were not detected. First-trimester ultrasound had a pooled sensitivity of 67.74% (95% CI, 55.25-79.06%), specificity of 99.75% (95% CI, 99.47-99.92%) and positive predictive value of 94.22% (95% CI, 90.22-97.22%) in the high-risk population. The cases diagnosed in the first trimester represented 79.86% (95% CI, 69.89-88.25%) of all antenatally diagnosed major cardiac abnormalities in the high-risk population. The imaging protocol used for examination was found to have an important impact on screening performance in both populations (P < 0.0001), with a significantly higher detection rate observed in studies using at least one outflow-tract view or color-flow Doppler imaging (both P < 0.0001). Different types of cardiac anomaly were not equally amenable to detection on first-trimester ultrasound.
CONCLUSIONS
First-trimester ultrasound examination of the fetal heart allows identification of over half of fetuses affected by major cardiac pathology. Future first-trimester screening programs should follow structured anatomical assessment protocols and consider the introduction of outflow-tract views and color-flow Doppler imaging, as this would improve detection rates of fetal cardiac pathology. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; Fetal Diseases; Fetal Heart; Gestational Age; Heart Defects, Congenital; Humans; Predictive Value of Tests; Pregnancy; Pregnancy Trimester, First; Prospective Studies; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 34369613
DOI: 10.1002/uog.23740 -
Revue Medicale de Liege Oct 2022Mucinous nevus is an exceptional entity and presents as flesh-colored to brownish papules or plaques, coalescing to form a pigmentary or verrucous lesion with either a...
Mucinous nevus is an exceptional entity and presents as flesh-colored to brownish papules or plaques, coalescing to form a pigmentary or verrucous lesion with either a blaschkoid, linear, grouped or zosteriform disposition. It usually appears at birth or during early childhood, but late onset has also been described. Mucinous nevus does not require additional work-up as no internal pathologies have been described. Abstention of any therapeutic intervention is usually preferred.
Topics: Child, Preschool; Humans; Infant, Newborn; Nevus; Skin Abnormalities; Skin Neoplasms
PubMed: 36226389
DOI: No ID Found -
Dermatology Online Journal Feb 2015Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome) characterize this rare autosomal...
Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome) characterize this rare autosomal recessive syndrome. The main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement. Large granules of melanin unevenly distributed in the hair shaft are observed. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present. We report a 10-year-old girl with silver-leaden (silvery) hair, bronze skin color on sun-exposed areas, generalized hypopigmentation of covered body parts, and congenital seizures. The child was the elder of two children born of a consanguineous marriage. The younger sibling, a female neonate, had the same clinical presentation.
Topics: Child; Consanguinity; Diagnosis, Differential; Eyebrows; Eyelashes; Female; Hair; Humans; Neurocutaneous Syndromes; Pigmentation Disorders; Seizures; Siblings; Skin
PubMed: 25780981
DOI: No ID Found -
Investigative Ophthalmology & Visual... Apr 2018To assess color vision and its association with retinal structure in persons with congenital aniridia.
PURPOSE
To assess color vision and its association with retinal structure in persons with congenital aniridia.
METHODS
We included 36 persons with congenital aniridia (10-66 years), and 52 healthy, normal trichromatic controls (10-74 years) in the study. Color vision was assessed with Hardy-Rand-Rittler (HRR) pseudo-isochromatic plates (4th ed., 2002); Cambridge Color Test and a low-vision version of the Color Assessment and Diagnosis test (CAD-LV). Cone-opsin genes were analyzed to confirm normal versus congenital color vision deficiencies. Visual acuity and ocular media opacities were assessed. The central 30° of both eyes were imaged with the Heidelberg Spectralis OCT2 to grade the severity of foveal hypoplasia (FH, normal to complete: 0-4).
RESULTS
Five participants with aniridia had cone opsin genes conferring deutan color vision deficiency and were excluded from further analysis. Of the 31 with aniridia and normal opsin genes, 11 made two or more red-green (RG) errors on HRR, four of whom also made yellow-blue (YB) errors; one made YB errors only. A total of 19 participants had higher CAD-LV RG thresholds, of which eight also had higher CAD-LV YB thresholds, than normal controls. In aniridia, the thresholds were higher along the RG than the YB axis, and those with a complete FH had significantly higher RG thresholds than those with mild FH (P = 0.038). Additional increase in YB threshold was associated with secondary ocular pathology.
CONCLUSIONS
Arrested foveal formation and associated alterations in retinal processing are likely to be the primary reason for impaired red-green color vision in aniridia.
Topics: Adolescent; Adult; Aged; Aniridia; Child; Color Perception Tests; Color Vision; Color Vision Defects; Female; Fovea Centralis; Humans; Male; Middle Aged; Tomography, Optical Coherence; Visual Acuity; Young Adult
PubMed: 29801149
DOI: 10.1167/iovs.17-23047 -
Ceska a Slovenska Oftalmologie :... 2020Carotid-cavernous fistula (CCF) is an abnormal communication - vascular connection between arteries and veins in the cavernous sinus. Classification according to... (Review)
Review
Carotid-cavernous fistula (CCF) is an abnormal communication - vascular connection between arteries and veins in the cavernous sinus. Classification according to etiology is traumatic vs spontaneous. According to blood flow rate per high flow vs low flow fistula. According to anatomy of direct vs indirect: Direct (direct) CCF arises through direct communication between the internal carotid artery (ICA) and the cavernous sinus. Indirect CCF originates through indirect communication through the meningeal branches of ICA, external carotid artery and cavernous sinus (not directly with ICA) and Barrow type A, B, C, D division. Patients subjective complaints depend on the type of CCF. Most often it is pulsating tinnitus, synchronous with blood pulse. Typical findings include protrusion and pulsation of the eyeball, corkscrew vessels - arterialization of conjunctival and episleral vessels, increased intraocular pressure, not responding to local antiglaucomatous therapy, keratopathy a lagophthalmo, corneal ulcers. In the later untreated stages of CCF, secondary, venous stasis or central retinal vein occlusion can occur. Diagnostic procedures include B-scan and color Doppler ultrasonography, digital ophthamodynamometry, computer tomography, nuclear magnetic resonance and digital subtraction angiography. CCF can simulate orbitopathy, conjunctivitis symptoms, carotid occlusion, scleritis or cavernous sinus thrombosis. The ophthalmologist should recognize and indicate the necessary examinations in a timely manner. The therapy is ophthalmological, neuroradiological, sterotactic, surgical and conservative.
Topics: Carotid-Cavernous Sinus Fistula; Cavernous Sinus; Fistula; Humans; Magnetic Resonance Imaging; Ophthalmologists
PubMed: 33086846
DOI: 10.31348/2020/8 -
International Journal of Laboratory... May 2018Morphological review of the peripheral blood smear is still a crucial diagnostic aid as it provides relevant information related to the diagnosis and is important for... (Review)
Review
INTRODUCTION
Morphological review of the peripheral blood smear is still a crucial diagnostic aid as it provides relevant information related to the diagnosis and is important for selection of additional techniques. Nevertheless, the distinctive cytological characteristics of the blood cells are subjective and influenced by the reviewer's interpretation and, because of that, translating subjective morphological examination into objective parameters is a challenge.
METHODS
The use of digital microscopy systems has been extended in the clinical laboratories. As automatic analyzers have some limitations for abnormal or neoplastic cell detection, it is interesting to identify quantitative features through digital image analysis for morphological characteristics of different cells.
RESULT
Three main classes of features are used as follows: geometric, color, and texture. Geometric parameters (nucleus/cytoplasmic ratio, cellular area, nucleus perimeter, cytoplasmic profile, RBC proximity, and others) are familiar to pathologists, as they are related to the visual cell patterns. Different color spaces can be used to investigate the rich amount of information that color may offer to describe abnormal lymphoid or blast cells. Texture is related to spatial patterns of color or intensities, which can be visually detected and quantitatively represented using statistical tools.
CONCLUSION
This study reviews current and new quantitative features, which can contribute to optimize morphology through blood cell digital image processing techniques.
Topics: Blood Cells; Cell Shape; Color; Humans; Image Processing, Computer-Assisted; Microscopy
PubMed: 29741256
DOI: 10.1111/ijlh.12832