Search results for "Case Report"

showing 10 items of 771 documents

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical rep…

2021

Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing. Patient’s presentation We hereb…

medicine.medical_specialtyEctodermal dysplasiaHay–Wells syndromeCleft LipAnkyloblepharonMutation MissenseErythrodermaCase ReportEctodermal dysplasiaPediatricsRJ1-570TP63medicineMissense mutationHumansEye Abnormalitiesbusiness.industryTumor Suppressor ProteinsAEC syndromeInfant NewbornTumor protein p63 geneEyelidsmedicine.diseaseAnkyloblepharon-ectodermal defects-cleft lip/palate syndromeDermatologyCleft Palatemedicine.anatomical_structureHay-Wells syndromeScalpAgenesisFemaleAEC syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Congenital skin disorders Ectodermal dysplasia Hay-Wells syndrome Tumor protein p63 genebusinessTranscription FactorsCongenital skin disordersItalian journal of pediatrics
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Positive Effect of Steroids in Posterior Reversible Encephalopathy Syndrome

2019

We present a case of posterior reversible encephalopathy syndrome with severe clinical manifestation. Apart from initial aphasia, hemiparesis, and a generalized seizure, the patient had a prolonged loss of consciousness. Although blood pressure was normalized, the clinical status deteriorated continuously. After adding steroids to the therapy, the patient recovered rapidly, suggesting that this could have been a useful therapeutic approach. Even the vasogenic edema in the cerebral magnetic resonance imaging disappeared shortly within 6 days.

medicine.medical_specialtyEncephalopathyPATHOPHYSIOLOGYCase ReportEncephalopathylcsh:RC346-42903 medical and health sciencesTherapeutic approach0302 clinical medicineInternal medicineAphasiamedicineMANAGEMENT030212 general & internal medicinelcsh:Neurology. Diseases of the nervous systemSPECTRUMmedicine.diagnostic_testbusiness.industryMagnetic resonance imagingPosterior reversible encephalopathy syndromeEDEMAmedicine.diseaseBlood pressureHemiparesisPosterior reversible encephalopathy syndromeCardiologyEncephalitisNeurology (clinical)medicine.symptombusiness030217 neurology & neurosurgeryEncephalitis
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Trans-limb embolization for treatment of Type 2 endoleak post EVAR: Case report

2021

Introduction Type 2 endoleaks (T2EL) occur after 10%–25% of endovascular abdominal aortic aneurysm repairs and increase the risk factor of endograft repair failure and rupture. Herein we report a case of endovascular treatment of T2EL where we performed a trans-limb embolization. Presentation of case A 63-years-old male previously treated for AAA with endovascular aortic aneurysms repair (EVAR), showed an angio-CT scan followup with a type 2 endoleak fed from inferior mesenteric artery (AMI) with growth of AAA greater of 1 cm than preoperative CT-scan and increase of chronic lumbar pain. Due to high risk of rupture was performed a trans-limb embolization with complete sealing. The 6 months …

medicine.medical_specialtyEndoleak type 2business.industrymedicine.medical_treatmentCoil embolizationmedicine.diseaseSize increaseInferior mesenteric arteryAneurysmSettore MED/22 - Chirurgia VascolareAbdominal aortic aneurysmSurgeryAneurysm ruptureLumbarAneurysmmedicine.arteryCase reportcardiovascular systemMedicineSurgerycardiovascular diseasesEmbolizationRisk factorbusiness
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Conservative management of dentigerous cysts in children

2015

Purpose and Introduction: Dentigerous cysts are epithelial in origin and are the most commonly found cyst in children. The majority of these lesions are usually a radiological finding and are capable of quite large before being diagnosed. The standard treatment for these cysts is the enucleation and the extraction of the affected tooth. However, if the patient is a child and the affected tooth is not developed, a more conservative attitude should be considered. Material and Methods: (Clinical case): A 7-year-old patient is presented with an eruptive backlog of the lower permanent first molars. Radiological examination reveals two radiolucid lesions in relation to them, which are compatible …

medicine.medical_specialtyEnucleationOdontologíaCase Reportstomatognathic systemOcclusionMedicineDental impactionCystChildGeneral DentistryPermanent teethDentitionbusiness.industryStandard treatmentmedicine.disease:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludSurgeryDentigerous cystRadiological weaponDentigerous cystUNESCO::CIENCIAS MÉDICASOral SurgerybusinessConservative treatmentJournal of Clinical and Experimental Dentistry
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Agenesis of the Internal Carotid Artery Associated with Generalized Epilepsy

2018

medicine.medical_specialtyEpilepsybusiness.industrymedicine.diseaseGenesis of internal carotid arterycerebrovascular diseases; carotid artery; epilepsy; magnetic resonance imaging; agenesis030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicineText miningNeurologyInternal medicinemedicine.arteryAgenesisEpilepsy Genesis of internal carotid artery Case reportCase reportmedicineCardiologyNeurology (clinical)Generalized epilepsyInternal carotid arterybusinessLetter to the Editor030217 neurology & neurosurgeryJournal of Clinical Neurology (Seoul, Korea)
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Isolated Dysphagia in a Patient with Medial Medullary Infarction – Effects of Evidence-Based Dysphagia Therapy: A Case Report

2021

Medial medullary infarction (MMI) is a vascular occlusion in the medulla oblongata leading to certain constellations of neurological symptoms and seriously affecting the patient. Effective evidence-based treatment of severe dysphagia as sole symptom of MMI has not yet been reported. This case study aims to report successful effects of evidence-based therapy based on findings of dysphagia symptoms and pathophysiology of swallowing by flexible endoscopic evaluation of swallowing (FEES) in severe isolated dysphagia after MMI. FEES was performed to evaluate swallowing pathophysiology and dysphagia symptoms in a 57-year-old male with severe dysphagia after MMI. On the basis of FEES findings, sim…

medicine.medical_specialtyEvidence-based practiceMedullary cavitydysphagiamedicine.medical_treatmentInfarctionVascular occlusionlcsh:RC346-429Swallowingflexible endoscopic evaluation of swallowingotorhinolaryngologic diseasesmedicinecase reportmedial medullary infarctionlcsh:Neurology. Diseases of the nervous systemRehabilitationbusiness.industryevidence-based therapyCase Series − General Neurologymedicine.diseaseDysphagiaPathophysiologySurgerydysphagia therapyNeurology (clinical)medicine.symptombusinessCase Reports in Neurology
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Thrombolysis for massive pulmonary embolism in pregnancy: a case report

2011

Mortality from pulmonary embolism (PE) in pregnancy might be related to challenges in targeting the right population for prevention. Such targeting could help ensure that the correct diagnosis is suspected and adequately investigated, and allow the initiation of the timely and best possible treatment of this disease. In the literature to date only 18 case reports of thrombolysis in pregnant women with PE have been reported, and showed beneficial effects for both mother and fetus in terms of mortality and complications with acceptable bleeding risks. We present here the case of a pregnant patient with massive PE who underwent successful thrombolysis. A 26-year-old pregnant (at 24 weeks) woma…

medicine.medical_specialtyFetusPregnancyeducation.field_of_studymedicine.diagnostic_testbusiness.industrymedicine.medical_treatmentPopulationCase ReportThrombolysisChest painmedicine.diseasePulmonary embolismmedicine.anatomical_structureInternal medicineEmergency MedicinemedicineCardiologyInterventricular septummedicine.symptombusinesseducationPelvic examinationInternational Journal of Emergency Medicine
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Giant deep lobe parotid tumor removal via total parotidectomy without mandibulotomy. A simple and safe technique

2021

The transmandibular route is often combined with the transparotid-transcervical approach when extensive surgical field exposure is required, as in the case of deep parotid lobe tumors measuring over 4 cm in size. This procedure implies great morbidity and prolongs surgery time. Furthermore, in cases where additional lip division is performed, the aesthetic outcomes may be poorer. A description is made of the technique used for the removal of giant pleomorphic adenomas of the parapharyngeal space, without mandibulotomy. Key words:Parapharyngeal space tumor, pleomorphic adenoma, transcervical-transparotid approach, transmandibular approach.

medicine.medical_specialtyField exposurebusiness.industryCase Report030206 dentistryDeep lobemedicine.diseaseLobePleomorphic adenomastomatognathic diseases03 medical and health sciences0302 clinical medicinemedicine.anatomical_structureTotal parotidectomymedicineParapharyngeal spaceRadiologyTumor removalOral Surgery030223 otorhinolaryngologybusinessGeneral DentistryUNESCO:CIENCIAS MÉDICASJournal of Clinical and Experimental Dentistry
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Plunging Ranula in a 78- year- old Male ? a rare case report

2018

The term Ranula is a Latin word meaning frog. It refers to a bluish translucent cystic lesion in the floor of the mouth resembling the underbelly of a frog. Ranulas can be true cysts occurring due to ductal obstruction of the sublingual gland or a minor salivary gland or a pseudocyst as a result of ductal injury leading to extravasation and accumulation of saliva in the surrounding tissues. Clinically ranulas present as intraoral or plunging ranulas. The prevalence of ranula is 0.2% per 1000 patients Ranulas account for 6% of all salivary gland cysts. Ranulas are more common in children and young adults. However the plunging type occurs most commonly in the later third decade. The diagnosis…

medicine.medical_specialtyFloor of mouthSalivary glandbusiness.industryPlunging ranulaSublingual glandCase ReportRanulamedicine.disease:CIENCIAS MÉDICAS [UNESCO]Submandibular gland030218 nuclear medicine & medical imaging03 medical and health sciences0302 clinical medicinemedicine.anatomical_structurestomatognathic systemRare caseUNESCO::CIENCIAS MÉDICASmedicineRadiologyOral SurgeryDifferential diagnosisbusinessGeneral Dentistry030217 neurology & neurosurgery
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Severe Clostridium difficile infection with extremely high leucocytosis complicated by a concomitant bloodstream infection caused by Klebsiella pneum…

2020

Highlights • Exposure to antibiotics after surgery increase risk of Cl. difficile infection. • Sudden high leucocytosis may be sign of poor outcome in Cl. difficile case. • Oral Vancomycin could be responsible for the growth of bloodstream Kl. pneumonia.

medicine.medical_specialtyFulminantCefazolin03 medical and health sciences0302 clinical medicineVancomycinCase reportmedicineextremely high LeucocytosisSeptic shockbusiness.industryOsteomyelitisOsteomyelitisPseudomembranous colitisClostridium difficileClostridium difficilemedicine.diseaseSurgeryMetronidazoleKlebsiella pneumoniae030220 oncology & carcinogenesisVancomycin030211 gastroenterology & hepatologySurgerybusinessmedicine.drugInternational Journal of Surgery Case Reports
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