Painless swollen calf muscles of a 75-year-old patient caused by bilateral venous malformations.
Ontology highlight
ABSTRACT:
SUBMITTER: Piekaar RSM
PROVIDER: S-EPMC5534409 | biostudies-other | 2017 Jul
REPOSITORIES: biostudies-other
Similar Datasets
Project description:Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. Although often asymptomatic, seizures, cerebral haemorrhages and focal neurological deficits are well-documented complications. Mutations in the CCM1 (7q21-22), CCM2 (7p13-15) and CCM3 (3q25.2-27) genes have been identified in familial CCM. In rare instances, the association of congenital hyperkeratotic cutaneous capillary-venous malformations (HCCVMs) with CCM1 has been reported.We studied 6 members of a family with CCMs. Four members of the family developed late-onset multiple, tiny, bluish, soft, cutaneous papules, mainly located on the face, arm and abdominal area, corresponding histologically to venous malformations. A splice donor site mutation in intron 4 (c. 1146 + 1 G-->A) in the CCM1 gene was identified.Our findings suggest that mutations in the KRIT1 gene may cause phenotypically heterogeneous cutaneous vascular lesions other than those previously described as HCCVMs.
| S-EPMC2889683 | biostudies-literature
Project description:Exceptionally preserved organic remains are known throughout the vertebrate fossil record, and recently, evidence has emerged that such soft tissue might contain original components. We examined samples from eight Cretaceous dinosaur bones using nano-analytical techniques; the bones are not exceptionally preserved and show no external indication of soft tissue. In one sample, we observe structures consistent with endogenous collagen fibre remains displaying ? 67 nm banding, indicating the possible preservation of the original quaternary structure. Using ToF-SIMS, we identify amino-acid fragments typical of collagen fibrils. Furthermore, we observe structures consistent with putative erythrocyte remains that exhibit mass spectra similar to emu whole blood. Using advanced material characterization approaches, we find that these putative biological structures can be well preserved over geological timescales, and their preservation is more common than previously thought. The preservation of protein over geological timescales offers the opportunity to investigate relationships, physiology and behaviour of long extinct animals.
| S-EPMC4468865 | biostudies-other
Project description:Pseudoangiomatous stromal hyperplasia (PASH) is a rare benign breast disease characterized by breast stromal proliferation mimicking low grade angiosarcoma. PASH is frequently detected as an incidental component coexisting with other breast lesions. However, it can also present as a single localized mass and is typically unilateral. Mammographic and sonographic findings are nonspecific and indistinguishable from those of benign lesions. We report an unusual case of PASH presenting with diffuse enlargement of the bilateral breasts in a 40-year-old woman treated with bilateral mastectomy.
| S-EPMC6156700 | biostudies-literature
Project description:Objective: Vascular malformations affect 3% of neonates. Venous malformations (VMs) are the largest group representing more than 50 % of cases. In hereditary forms of VMs gene mutations have been identified, but for the large group of spontaneous forms the primary cause and downstream dysregulated genes are unknown. Methods and Results: We have performed a global comparison of gene expression in slow-flow VMs and normal saphenous veins using human whole genome micro-arrays. Genes of interest were validated with qRT-PCR. Gene expression in the tunica media was studied after laser micro-dissection of small pieces of tissue. Protein expression in endothelial cells (ECs) was studied with antibodies. We detected 511 genes more than 4-fold down- and 112 genes more than 4-fold up-regulated. Notably, chemokines, growth factors, transcription factors and regulators of extra-cellular matrix (ECM) turnover were regulated. We observed activation and arterialization of ECs of the VM proper, whereas ECs of vasa vasorum exhibited up-regulation of inflammation markers. In the tunica media, an altered ECM turnover and composition was found. Conclusions: Our studies demonstrate dysregulated gene expression in tunica interna, media and externa of VMs, and show that each of the three layers represents a reactive compartment. The dysregulated genes may serve as therapeutic targets. Keywords: disease analysis
2007-03-06 | GSE7190 | GEO
Project description:Mutations in the angiopoietin receptor TIE2/TEK have been identified as the cause for autosomal dominantly inherited cutaneomucosal venous malformation (VMCM). Thus far, two specific germline substitutions (R849W and Y897S), located in the kinase domain of TIE2, have been reported in five families. The mutations result in a fourfold increase in ligand-independent phosphorylation of the receptor. Here, we report 12 new families with TEK mutations. Although the phenotype is primarily characterized by small multifocal cutaneous vascular malformations, many affected members also have mucosal lesions. In addition, cardiac malformations are observed in some families. Six of the identified mutations are new, with three located in the tyrosine kinase domain, two in the kinase insert domain, and another in the carboxy terminal tail. The remaining six are R849W substitutions. Overexpression of the new mutants resulted in ligand-independent hyperphosphorylation of the receptor, suggesting this is a general feature of VMCM-causative TIE2 mutations. Moreover, variation in the level of activation demonstrates, to the best of our knowledge for the first time, that widely differing levels of chronic TIE2 hyperphosphorylation are tolerated in the heterozygous state, and are compatible with normal endothelial cell function except in the context of highly localized areas of lesion pathogenesis.
| S-EPMC2841708 | biostudies-literature
Project description:The reconstruction of ancient metagenomes from archaeological material, and their implication in human health and evolution, is one of the most recent advances in paleomicrobiological studies. However, as for all ancient DNA (aDNA) studies, environmental and laboratory contamination need to be specifically addressed. Here we attempted to reconstruct the tissue-specific metagenomes of a 42,000-year-old, permafrost-preserved woolly mammoth calf through shotgun high-throughput sequencing. We analyzed the taxonomic composition of all tissue samples together with environmental and non-template experimental controls and compared them to metagenomes obtained from permafrost and elephant fecal samples. Preliminary results suggested the presence of tissue-specific metagenomic signals. We identified bacterial species that were present in only one experimental sample, absent from controls, and consistent with the nature of the samples. However, we failed to further authenticate any of these signals and conclude that, even when experimental samples are distinct from environmental and laboratory controls, this does not necessarily indicate endogenous presence of ancient host-associated microbiomic signals.
| S-EPMC6162753 | biostudies-literature
Project description:BackgroundThe differential diagnosis of optic disc edema varies according to the presence of unilateral or bilateral edema. Papilledema may occur due to benign and life-threatening causes, but even benign causes may leave serious consequences for vision if not treated emergently. This study aimed to find out the prevalence of these causes in two major hospitals in Syria and observing the response of edema to treatment within a month and how visual acuity can be saved if edema is treated urgently.MethodsThis cross-sectional study was conducted in Al-Assad and Al-Mowasat Hospitals in Syria from October 2020 to the beginning of February 2022. It included 50 patients who had bilateral optic disc edema. Then a full study was carried out to reach the diagnosis and management appropriately and to monitor the extent of the efficacy of conservative measure in reducing edema, and how many of them needed surgical intervention.Resultsthe study included 50 patients, 13 males and 37 females, the most common diagnosis was venous sinus thrombosis (12 cases with 24%), followed by idiopathic intracranial hypertension and tumors (10 cases each by 20%), infectious meningitis (8 cases by 16%), leptomeningeal metastasis (5 cases by 10%), arterial hypertension (3 cases by 6%) and autoimmune meningitis (2 by 4%). Edema improved after management within a month in most patients (37 patients by 74%) and edema was accompanied by low visual acuity in 21 patients (42%). 20 patients (40%) needed surgical intervention. Visual acuity reduced in 10 patients (20%) despite all treatments.Conclusionvenous sinus thrombosis is the most common cause of bilateral optic disc edema then idiopathic intracranial hypertension and tumors, and despite the provision of all treatments, the visual acuity of 20% of patients has decreased.
| S-EPMC9289387 | biostudies-literature
Project description:A 12-year-old girl with bilateral stage 2B Coats disease was screened meticulously for a possible underlying systemic disease as she was female and the disease was bilateral. Full systemic workout turned out to be unremarkable. However, an ABCA4 gene mutation was found in the genetic analysis. NDP and TINF2 gene mutations were not present. She was successfully treated with a bilateral, single intravitreal injection of dexamethasone implant and a single session of indirect laser photocoagulation with a relatively good anatomic and functional result. To the best of our knowledge, the present case is the only reported case of Coats disease with an ABCA4 gene mutation.
| S-EPMC6120373 | biostudies-literature
Project description:Importance:Congenital retinal macrovessel (CRM) is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain. Objective:To study the multimodal imaging findings of a series of eyes with congenital retinal macrovessel and describe the systemic associations. Design, Setting, and Participants:In this cross-sectional multicenter study, medical records were retrospectively reviewed from 7 different retina clinics worldwide over a 10-year period (2007-2017). Patients with CRM, defined as an abnormal, large, macular vessel with a vascular distribution above and below the horizontal raphe, were identified. Data were analyzed from December 2016 to August 2017. Main Outcomes and Measures:Clinical information and multimodal retinal imaging findings were collected and studied. Pertinent systemic information, including brain magnetic resonance imaging findings, was also noted if available. Results:Of the 49 included patients, 32 (65%) were female, and the mean (SD) age at onset was 44.0 (20.9) years. A total of 49 eyes from 49 patients were studied. Macrovessel was unilateral in all patients. Color fundus photography illustrated a large aberrant dilated and tortuous retinal vein in all patients. Early-phase frames of fluorescein angiography further confirmed the venous nature of the macrovessel in 40 of 40 eyes. Optical coherence tomography angiography, available in 17 eyes (35%), displayed microvascular capillary abnormalities around the CRM, which were more evident in the deep capillary plexus. Of the 49 patients with CRM, 39 (80%) did not illustrate any evidence of ophthalmic complications. Ten patients (20%) presented with retinal complications, typically an incidental association with CRM. Twelve patients (24%) were noted to have venous malformations of the brain with associated magnetic resonance imaging. Of these, location of the venous anomaly in the brain was ipsilateral to the CRM in 10 patients (83%) and contralateral in 2 patients (17%), mainly located in the frontal lobe in 9 patients (75%). Conclusions and Relevance:Our study has identified an association between macrovessels in the retina and venous anomalies of the brain (24% compared with 0.2% to 6.0% in the normal population). Thus, we recommend new guidelines for the systemic workup of patients with CRM to include brain magnetic resonance imaging with contrast. These lesions may be more accurately referred to as retinal venous malformations, which may raise awareness regarding potential cerebral associations.
| S-EPMC5876911 | biostudies-literature
Project description:Subcapital femoral neck fractures are associated with high morbidity and mortality. These fractures mostly occur as a result of a high-force impact from traffic accidents and a fall from a great height, though non-traumatic forms are described in transient osteoporosis during the second half of pregnancy, in convulsions during electric shock, eclampsia, hypocalcemia, osteomalacia, renal osteodystrophy and myeloma.In this report we present a bilateral subcapital femoral neck fracture in a woman sustained two days after delivery. The right hip fracture was treated with fixation using three spongious screws without capsular decompression, while for the left hip a capsular decompression by open reduction and fixation was performed. Physical treatment based on active and passive movements was immediately initiated. The patient was able to rest upon her right leg within seven and upon the left leg within eight months. X-Rays showed the accurate position of fragments and implants throughout the recovery period. Twelve years later, the patient made a full recovery and the x-rays showed that both femoral heads are vital and fully recovered.Early anatomical reconstruction followed by internal fixation is crucial in the prevention of long-term complications. Complications of internal fixations include non-union (10-30%), avascular necrosis (15-33%), deep vein thrombosis and pulmonary embolism.
| S-EPMC5511540 | biostudies-other