Search results for " DIAGNOSIS"

showing 10 items of 1378 documents

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

2013

International audience; BACKGROUND:The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.METHODS:Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation referred for symptoms or family history, by all French molecular genetics laboratories, referring physicians, CF care centres and infertility clinics.RESULTS:97% of the patients had the intronic T7 normal variant in cis with p.Arg117His. 89% patients were male, wit…

InfertilityMalemedicine.medical_specialtyHeterozygoteCystic FibrosisOffspring[SDV]Life Sciences [q-bio]Cystic Fibrosis Transmembrane Conductance RegulatorGene mutationCompound heterozygosityAsymptomaticCystic fibrosis03 medical and health sciences0302 clinical medicineVas DeferensMale Urogenital DiseasesMutation RateInternal medicinePrenatal DiagnosisGenotypeGeneticsmedicineHumansFamily historyChildSweatGenetics (clinical)Infertility Male030304 developmental biology0303 health sciencesbusiness.industryInfant NewbornInfantmedicine.disease3. Good healthPhenotype030228 respiratory systemChild PreschoolImmunologyMutationFemalemedicine.symptombusiness
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A text based indexing system for mammographic image retrieval and classification

2014

Abstract In modern medical systems huge amount of text, words, images and videos are produced and stored in ad hoc databases. Medical community needs to extract precise information from that large amount of data. Currently ICT approaches do not provide a methodology for content-based medical images retrieval and classification. On the other hand, from the Internet of Things (IoT) perspective, the ICT medical data can be produced by several devices. Produced data complies with all Big Data features and constraints. The IoT guidelines put at the center of the system a new smart software to manage and transform Big Data in a new understanding form. This paper describes a text based indexing sy…

Information retrievalComputer Networks and CommunicationsComputer sciencebusiness.industrySearch engine indexingBig datacomputer.software_genreDICOMSearch engineMedical images indexing and classificationHardware and ArchitectureInformation retrievalMedical documents indexing and classificationData miningMedical diagnosisbusinessClassifier (UML)computerSoftwareFuture Generation Computer Systems
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Early intestinal perforation secondary to congenital mesenteric defects

2016

Abstract Gastrointestinal perforation (GIP) in preterm neonates may be idiopathic, due to necrotizing enterocolitis (NEC), or mechanical obstruction. The predominant cause of GIP in the neonatal period is NEC. Differential diagnosis with congenital malformations, including mesenteric defects leading to internal hernias, is mandatory if the onset is early. We describe two newborns with trans-mesenteric herniation resulting in GIP, and we discuss the presence of possible additional risk factors such as prematurity and predisposing vascular disruption in connective tissue disorders (Ehlers-Danlos syndrome), twinning, and use of assisted reproductive technologies. These cases prompted us to rev…

Internal herniamedicine.medical_specialtyendocrine systemPerforation (oil well)lcsh:SurgeryConnective tissueReproductive technology03 medical and health sciencesInternal hernia0302 clinical medicineGastrointestinal perforation030225 pediatricsMedicinebusiness.industryDorsal mesentery; Ehlers-Danlos syndrome; Internal hernia; Twin; Pediatrics Perinatology and Child Health; Surgerylcsh:RJ1-570Twinlcsh:PediatricsDorsal mesenterylcsh:RD1-811medicine.diseasedigestive system diseasesSurgerymedicine.anatomical_structureEhlers–Danlos syndrome030220 oncology & carcinogenesisNecrotizing enterocolitisPediatrics Perinatology and Child HealthSurgeryDifferential diagnosisbusinessEhlers-Danlos syndromehormones hormone substitutes and hormone antagonists
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Systematic Analysis of Readability of Patient Information on Internet Pages from Departments for Trauma Surgery of German University Hospitals

2020

The need-based information transfer in education as well as for the recruitment of patients becomes more and more relevant. Here, the internet has emerged as an increasingly important factor in recent years and therefore information pages on hospital homepages can be very helpful. However, it is known that basic text comprehension skills are lacking among large populations.The aim of the present study was to evaluate the readability of the patient information available on the websites of trauma departments of German university hospitals. For this purpose, a search for information material on 10 different diagnoses was carried out. Out of 360 texts possible, 185 were found and assigned to 2 …

InternetInformation transferMedical educationHigher educationbusiness.industrySuperordinate goalslanguage.human_languageReadabilityHospitals UniversityGerman03 medical and health sciences0302 clinical medicine030220 oncology & carcinogenesislanguageHumansOrthopedics and Sports MedicineSurgeryThe InternetMedical diagnosisComprehensionbusinessPsychologyTrauma surgery030217 neurology & neurosurgeryZeitschrift für Orthopädie und Unfallchirurgie
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Diagnosis and therapeutic management of primary headache in an emergency setting

2013

Introduction and aim: Much headachers are under or mis-diagnoses and data regarding the proportion of patients attending an emergency department (ED) because of headache are still few. We conducted a retrospective observational study in an ED with the following aims: (a) estimate the proportion of headache attending to an ED (b) to estimate and describe the therapeutic management of primary headache and (c) to assessment the exam most frequently requested. Materials and methods: We collected data regarding patients diagnosed with headache consecutively attending the ED of the University of Palermo between September 2011 and March 2012. The study was approved by the ethics committee. Results: Between the semester evaluated 25110 subjects were admitted to ED headache suffers were equal to 1.6 %. Of these 263 (63.1 %) were woman and 154 (36.9 %). Mean age was 44.2 (DS ± 18.4) years (p = 0.068).According to ED registry headache admission was as follow assigned: 76.5 % with a diagnosis of headache 22.8 % with a secondary headache 0.7 % with Trigeminal Autonomic Cephalgias (TACs). Among those with a primary headache about 36 % of patient did not received a pharmacological treatment. Monotherapy was prescribed less frequently than combination therapy (19.1 vs 44.5 %).In monotherapy the most frequent medication were NSAIDs (28.3 %) benzodiazepines (26.7 %) and dopamine antagonists (11.7 %). Among those with a primary headache a CT scan was performed in the 124 subjects and 111 (34.8 %) had a neurologist consultation. Discussion: Our data are in line with the one previously reported in literature. The most frequently medication in the Italian ED were NSAIDs benzodiazepines dopamine antagonists and steroids. Neverless our data unlikely can be compared to other study give a snapshot. We believe that much more can be done to improve treatment of primary headache in ED.Settore MED/26 - Neurologia
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Scientific investigation to preserve our architectural heritage: experimental application in Sicily between 2002 and 2012

2014

The essay introduces the result of thermographic surveys and other scientific applications on some Sicilian monuments, and demonstrates the clear evolution of the method to support an effective conservation of ancient buildings. The method introduced is useful to get a metric thermal image to be edited with the photogrammetric image of the architectural surfaces simultaneously, and related with the results of other kind of diagnostic tests. Some examples of its application are introduced and critically commented to understand all the potentialities of the investigation in the discipline of the restoration of cultural heritage.

Investigation diagnosis preservation conservation restorationSettore ICAR/19 - Restauro
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Immunomorphological differential diagnosis of maxillary cystic lesions with keratinization

2011

Objetivos: Los quistes maxilares con queratinización son formas lesionales de carácter controvertido y de relevancia clínica, dada la implicación clínico-evolutiva del llamado tumor odontogénico queratoquístico (TOQ). En el presente estudio nos planteamos valorar la utilidad de las técnicas inmunohistoquímicas en la identificación de estas lesiones. Material y métodos: Se analizan de forma retrospectiva las lesiones quísticas maxilares dotadas de fenómenos de queratinización interna, diagnosticadas en un mismo centro hospitalario, a lo largo de un periodo de 4 años, realizando un estudio inmunohistoquímico mediante la aplicación de un panel de cinco anticuerpos (Ki67, Bcl-2, p53, CK19, D2-4…

Keratocystic odontogenic tumorMaxillary cystsQuistes maxilaresQuiste odontogénico ortoqueratósicoDifferential diagnosisDiagnóstico diferencialOrthokeratotic odontogenic cystImmunohistochemistryTumor odontogénico queratoquísticoInmunohistoquímia
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Diagnostic and therapeutical role of vitamin D in chronic hepatitis C virus infection

2011

Although initially identified as a calcium homeostatic hormone, vitamin D is now known to have pleiotropic functions, dealing with both innate and adaptative immunity. Calcitriol mediates its biological effects by binding to the vitamin D receptor (VDR), which is expressed not only by intestine, bone and kidney but also on cell membranes of T lymphocytes, B lymphocytes, dendritic cells and macrophages. Vitamin D plays a role on the degree of liver damage in patients with chronic hepatitis C (CHC): low vitamin D levels have been associated with high hepatic necroinflammatory activity and progression of liver fibrosis. Vitamin D, in CHC patients, could also affect the response to antiviral th…

KidneyGeneral Immunology and MicrobiologyCalcitrioldiagnosisbusiness.industryHepatitis CHepatitis C Chronicmedicine.diseaseHepatitis CCalcitriol receptorGeneral Biochemistry Genetics and Molecular Biologymedicine.anatomical_structureImmunityImmunologymedicineVitamin D and neurologyHumansVitamin Dbusinessvitamin D; Hepatitis C; diagnosisHomeostasismedicine.drugHormone
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Italian multicentric survey on laparoscopic spleen surgery in the pediatric population.

2007

Abstract Background: Some technical aspects of laparoscopic spleen surgery still are debated, although efforts have been made to standardize them. The position of the patient, the approach to the spleen, vessel identification and division, and spleen extraction can vary from center to center. Methods: This retrospective muticentric study led by the Societa` Italiana di Videochirurgia Infantile (SIVI) examined indications, surgical details, and complications of laparoscopic spleen surgery in the pediatric population during a 5-year period. Results: The study period from January 1999 to December 2003 (5 years) involved nine centers and included 85 patients with a mean age of 10 years (range, …

Laparoscopic surgeryMalemedicine.medical_specialtyAdolescentmedicine.medical_treatmentSplenectomySpleenAdolescent Age Distribution Child Child; Preschool Data Collection Female Hematologic Diseases; complications/diagnosis Humans Incidence Intraoperative Complications; diagnosis/epidemiology Italy Laparoscopy; adverse effects/methods Male Pediatrics; methods Postoperative Complications; diagnosis/epidemiology Prognosis Retrospective Studies Risk Assessment Severity of Illness Index Sex Distribution Splenectomy; adverse effects/methods Splenic Diseases; diagnosis/etiology/surgery Survival AnalysisPediatricsRisk AssessmentSeverity of Illness IndexmethodsAge DistributionPostoperative ComplicationsmedicineHumansSex DistributionLaparoscopyChildPreschoolIntraoperative ComplicationsRetrospective StudiesSplenic Diseasesadverse effects/methodsmedicine.diagnostic_testdiagnosis/epidemiologybusiness.industryData CollectionIncidenceComplications — Fenestration — Laparoscopic splenectomy — Multicentric survey — Spleen —technical detailscomplications/diagnosismedicine.diseasePrognosisdiagnosis/etiology/surgeryHematologic DiseasesSurvival AnalysisEndoscopySurgerymedicine.anatomical_structureItalyChild PreschoolSplenectomySurgeryFemaleLaparoscopySplenic diseasebusinessComplicationAbdominal surgery
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Acute appendicitis in a patient with situs viscerum inversus totalis: Role of laparoscopic approach. A case report and brief literature review

2020

Highlights • Abdominal pain due to acute appendicitis in one of the most causes of access to Emergency Room requiring surgical consult and treatment. • The occurrence of anatomical anomalies should be considered especially when clinical and imaging features are misleading. In these cases laparoscopic surgery can be a safe tool in order to confirm uncertain diagnosis. • We report a case of acute appendicitis in a 23-year-old Caucasian men with situs viscerum inversus detected on radiological investigation. • Laparoscopic approach was used to confirm the diagnosis and to perform appendectomy. Trocars placement was tailored for this peculiar case. • Situs viscerum inversus and midgut malrotati…

Laparoscopic surgerycongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyAbdominal painMidgut malrotationmedicine.medical_treatmentCase ReportLaparoscopic surgery03 medical and health sciencesStandard anatomical position0302 clinical medicineotorhinolaryngologic diseasesmedicineUrgent laparoscopyAcute appendicitisSitus viscerum inversusbusiness.industryGeneral surgeryAppendixmedicine.anatomical_structure030220 oncology & carcinogenesisAcute appendicitis030211 gastroenterology & hepatologySurgeryDifferential diagnosismedicine.symptomMidgut malrotationSitus viscerum inversusbusiness
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