Search results for "Lipoma"

showing 10 items of 61 documents

Specific mosaicKRASmutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

2016

Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more than 50 patients with ECCL have been reported. Both diseases were proposed to represent mosaic disorders, but only very recently whole-genome sequencing has led to the identification of somatic KRAS mutations, p.Leu19Phe and p.Gly13Asp, in affected tissue from two individuals with OES. Here we report the results of molecular genetic studies in three patients with OES and one with ECCL. In all four…

0301 basic medicineGeneticsSanger sequencingLipomatosis030105 genetics & heredityRASopathyBiologymedicine.diseasemedicine.disease_causeAplasia cutis congenita3. Good health03 medical and health sciencessymbols.namesake030104 developmental biologyGermline mutationGenotypeEncephalocraniocutaneous LipomatosisGeneticsmedicinesymbolsKRASmedicine.symptomGenetics (clinical)Clinical Genetics
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Complication of endoscopic tattooing: a case report of covered perforation

2016

Aim Laparoscopy is considered a good approach in treatment of colorectal neoplastic diseases; the endoscopic tattooing is then recommended (Evidence Level III and grade of recommendation A) to mark a lesion or a polypectomy site for intraoperative identification. We describe the case of perforation after tattoing treated conservatively. Case report 63 years old woman, underwent colonoscopy for lipoma tattooing with India ink SPOT® solution kit and saline test. Immediately after the procedure the patient has been referred the appearance of colic epi-mesogastric pain and fever; Computed Tomography (CT) without MDC identified an irregular thickening of transverse colon with some microbubbles c…

0301 basic medicinemedicine.medical_specialtymedicine.medical_treatmentPerforation (oil well)ColonoscopyPeritonitisBacteremiaClinical Practice03 medical and health sciences0302 clinical medicineEnteral NutritionmedicineHumansLaparoscopyColoring AgentsPerforationmedicine.diagnostic_testTattooingbusiness.industryTransverse colonEndoscopyColonoscopyMiddle Agedmedicine.diseaseEndoscopy; Perforation; Surgery; Tattoing; SurgeryPolypectomyCarbonSurgeryEndoscopyAnti-Bacterial AgentsTattoing030104 developmental biologyTreatment OutcomeIntestinal Perforation030220 oncology & carcinogenesisSurgeryFemaleLipomabusinessComplicationColorectal NeoplasmsTomography X-Ray Computed
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Three-dimensional ultrasound radiance mode imaging of a uterine lipoleiomyoma.

2016

In this case report the diagnosis of a uterine lipoleiomyoma is depicted by means of a three-dimensional radiance mode. The advent of radiance or silhouette mode as a new tool in ultrasound diagnosis is intended to assist by generating additional realistic image visualization and a better distinction among different tissues.

Acoustics and UltrasonicsSilhouetteDiagnosis DifferentialImaging Three-DimensionalHumansMedicineRadiology Nuclear Medicine and imagingComputer vision3D ultrasoundUterine NeoplasmUltrasonographyThree dimensional ultrasoundLeiomyomaRadiological and Ultrasound Technologymedicine.diagnostic_testbusiness.industryUterusUltrasoundMode (statistics)Middle AgedVisualizationUterine NeoplasmsRadianceFemaleLipomaArtificial intelligencebusinessMedical Ultrasonography
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Trattamento laparoscopico del Mielolipoma surrenalico: caso clinico e revisione della letteratura.

2006

Adrenal myelolipoma is a rare benign, non-functioning tumor consisting of fat and hematopoietic tissues. In January 2005 we had observed an adrenal myelolipoma in 70 year old man. During the follow-up for bladder urothelioma, an abdominal CT revaled a well delineated 4x4 cm homogeneous fatty mass in the right suprarenal area with negative attenuation values. The functional study of adrenal gland was normal. The patient underwent videolaparoscopic right adrenalectomy (Gagner technique). Postoperative course was uneventful. The istological diagnosis showed adrenal myelolipoma. We conclude that videolaparoscopic adrenalectomy should be considered the gold standard treatment for benign adrenal …

Adrenal myelolipoma Gagner technique bladder urothelioma videolaparoscopic adrenalectomy
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Post-traumatic lipoma of the parotid gland: case report

2008

The incidence of lipoma among parotid tumours ranges from 0.6% to 4.4%, with most series reporting an incidence of 1%. The most common origin of these tumours, in the parotid gland, is from the superficial lobe and, only rarely, from the deep lobe. Lipomas, upon clinical history, are found to be most frequently related to an episode of trauma. Computed Tomography scan and Magnetic Resonance Imaging can lead to a pre-operative diagnosis of lipoma. The case is described of lipoma of the superficial lobe of the parotid gland.

AdultFacial ParalysisMagnetic Resonance ImagingParotid Neoplasmsbody regionsstomatognathic diseasesFacial Paralysis Bites and Stings Parotid Neoplasms Lipomastomatognathic systemCase reportotorhinolaryngologic diseasesHumansFemaleBites and StingsLipoma
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Ruptured angiomyolipoma of the kidney: a rare differential diagnosis of flank pain.

2017

Angiomyolipomas (AMLs) of the kidney are typically benign and rare, with an incidence of 2% of all renal masses [1]. They are associated with tuberous sclerosis in about 20% of cases. If ruptured, ...

AdultMalemedicine.medical_specialtyAngiomyolipomaFlank painUrologyAngiomyolipoma030232 urology & nephrologyUreteral stoneFlank PainDiagnosis Differential03 medical and health sciencesTuberous sclerosis0302 clinical medicinemedicineHumansKidneyRupture Spontaneousbusiness.industryIncidence (epidemiology)food and beveragesmedicine.diseaseKidney NeoplasmsSurgeryTomography x ray computedmedicine.anatomical_structureNephrology030220 oncology & carcinogenesisRadiologyDifferential diagnosisbusinessTomography X-Ray ComputedScandinavian journal of urology
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Oral lipomas in a Brazilian population : a 10-year study and analysis of 450 cases reported in the literature

2009

Objectives: Lipomas are common benign mesenchymal neoplasms that rarely occur in the oral cavity and correspond to less than 4.4% of all benign oral soft tissue tumors. This study describes the clinical, radiological and histological features of cases of oral lipomas seen over a period of 10 years and compared the findings with those reported in the literature. Study Design: All cases of oral lipomas seen between 1999 and 2009 were retrieved from the archives of the Stomatology Division of the Federal University of Ceará, Brazil. Age, gender, tumor location, clinical findings, duration, histological subtypes, and treatment outcome were recorded. In addition, the English-language literature …

AdultMalemedicine.medical_specialtyTime FactorsAngiolipomaRadiographyYoung AdultmedicineHumansOral mucosaYoung adultGeneral DentistryAgedFibrolipomabusiness.industrySoft tissueLipomaMiddle Agedmedicine.disease:CIENCIAS MÉDICAS [UNESCO]Surgerystomatognathic diseasesmedicine.anatomical_structureOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASSurgeryBrazilian populationFemaleMouth NeoplasmsLipomabusinessBrazil
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A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects

1985

A 20-month-old girl showed typical clinical signs of Farber disease: hoarseness since birth, and periarticular subcutaneous painful nodules. Complete deficiency of acid ceramidase activity was found in cultured skin fibroblasts. An electron microscopic examination of a dermal nodule disclosed pathognomonic tubular inclusions in histiocytes. In epidermal cells zebra-body-like and needle-like lysosomal inclusions were found. Their ultrastructure is different from that of the intrahistiocytic lysosomal inclusions. Probably three clinical types of Farber disease may be distinguished according to the symptomatology and the course of the disease: a severe type, an intermediate type and a relative…

AdultPathologymedicine.medical_specialtyAcid CeramidaseAmidohydrolasesPathognomonicArthropathyCeramidasesmedicineHumansLipomatosisLymphocytesHistiocyteSkinFarber diseaseGranulomaHoarsenessbusiness.industryClinical coursemedicine.diseaseIntermediate typeAcid CeramidasePediatrics Perinatology and Child HealthUltrastructureFemaleJoint DiseasesbusinessEuropean Journal of Pediatrics
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Cerebral and spinal MR-findings in patients with postrepair myelomeningocele

1990

In 114 patients with postrepair myelomeningocele MRI of the spine was performed. Tethered cord (89%) and associated malformations (syrinx, lipoma etc.) (33%) were the most important findings. Additional MRI scans of the head (44 patients) revealed numerous further anomalies. Arnold Chiari malformation was found in 76% of the patients (ACM I: 32%, ACM II: 44%). In the ACM II group compression of lower cranial nerves, brain stem, and cerebellum can lead to considerable neurologic symptoms. Therefore in patients with progressive neurologic dysfunction a complete investigation of the whole spine and brain is necessary. MRI proves to be the diagnostic procedure of choice in patients with dysraph…

Adultmedicine.medical_specialtyCerebellumMeningomyeloceleAdolescentHumansMedicineRadiology Nuclear Medicine and imagingSyrinx (medicine)In patientNeural Tube DefectsChildTethered CordNeuroradiologybusiness.industryCranial nervesBrainInfantMiddle AgedLipomamedicine.diseaseMagnetic Resonance ImagingSurgerymedicine.anatomical_structureSpinal CordChild PreschoolPediatrics Perinatology and Child HealthArnold chiaribusinessFollow-Up StudiesPediatric Radiology
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Magnetic resonance imaging of postrepair-myelomeningocele — findings in 31 children and adolescents

1987

Magnetic resonance imaging has clearly demonstrated its efficacy in the diagnosis of pathological processes in the C.N.S. We examined 31 children who had undergone plastic closure of myelomeningocele a few days post partum. We could show that a high percentage of the patients (89%) presented the pathological anatomy of a tethered spinal cord; clinical symptoms of the tethered spinal cord syndrome, i.e. progressive neurological symptoms, however, are rarely observed. Possible revision of neurosurgical treatment of MMC is discussed.

Adultmedicine.medical_specialtyMeningomyeloceleAdolescentSensationSpinal Cord DiseasesPostoperative ComplicationsHumansMedicineSpinal Cord NeoplasmsChildPathologicalPost partumMovement Disordersmedicine.diagnostic_testCystsbusiness.industryMagnetic resonance imagingGeneral MedicineTethered spinal cord syndromemedicine.diseasePathological anatomySpinal cordMagnetic Resonance ImagingSurgerymedicine.anatomical_structureEl NiñoChild PreschoolSurgeryLipomaNeurology (clinical)NeurosurgerybusinessSpinal Cord CompressionNeurosurgical Review
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