Search results for "gnosi"
showing 10 items of 4286 documents
Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal R…
2022
Cell-free fetal DNA (cffDNA) analysis is a non-invasive prenatal diagnostic test with a fundamental role for the screening of chromosomic or monogenic pathologies of the fetus. Its administration is performed by fetal DNA detection in the mother’s blood from the fourth week of gestation. Given the great interest regarding its validation as a diagnostic tool, the authors have set out to undertake a critical appraisal based on a wide-ranging narrative review of 45 total studies centered around such techniques. Both chromosomopathies and monogenic diseases were taken into account and systematically discussed and elucidated. Not surprisingly, cell-free fetal DNA analysis for screening purposes …
PRESENTAZIONE DI UN CASO DI MENINGOCELE SACRALE ANTERIORE: CARATTERISTICHE NEURORADIOLOGICHE E DIAGNOSI DIFFERENZIALE
2013
SCOPO DEL LAVORO: Lo scopo di questo lavoro è documentare un caso di meningocele sacrale anteriore (Anterior Sacral Meningocele, ASM) rara forma di disrafismo spinale, diagnosticato in una giovane di 13 anni con riscontro ecografico di formazione cistica di verosimile pertinenza annessiale dopo visita Specialistica Ginecologica. La paziente si presenta con una clinica caratterizzata da: dolore pelvico, costipazione e cistiti ricorrenti. Sarà inoltre fatto un breve excursus sulle possibili diagnosi differenziali con altre masse pelviche a sviluppo presacrale. MATERIALI E METODI: A seguito di consulenza ginecologica, la paziente è stata sottoposta ad una ecografia transaddominale, che ha e…
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
2011
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder defined clinically by progressive lower limb spasticity and weakness. HSP is a genetically highly heterogeneous condition with at least 46 gene loci identified so far, involving X-linked, autosomal recessive (AR) and autosomal dominant inheritance. For correct diagnosis, molecular testing is essential because clinical parameters by themselves are not reliable to differentiate HSP forms. The purpose of this study was to establish amplicon-based high-throughput genotyping for AR-HSP. A sample of 187 index cases with apparently sporadic or recessive spastic paraplegia were analyzed by applying an array-based amplification stra…
The Italian Society of Gastroenterology (SIGE) and the Italian Group for the study of Inflammatory Bowel Disease (IG-IBD) Clinical Practice Guideline…
2010
Biological therapies are an important step in the management of Inflammatory Bowel Diseases. In consideration of high cost and safety issues there is the need to have clear recommendations for their use. Despite the American Gastroenterological Association and the European Crohn's and Colitis Organisation have published exhaustive Inflammatory Bowel Disease guidelines, national guidelines may be necessary as cultural values, economical and legal issues may differ between countries. For these reasons the Italian Society of Gastroenterology and the Italian Group for the study of Inflammatory Bowel Disease have decided to elaborate the Italian guidelines on the use of biologics in Inflammatory…
Gli strumenti di valutazione delle difficoltà persistenti a svolgere i compiti e le funzioni dell'età nel minore
2010
La valutazione del minore in ambito previdenziale ed assistenziale richiede una adeguato apporto multidisciplinare ed approccio interdisciplinare, di ordine clinico e psico-sociale; gli strumenti operativi di cui la scienza medica può dotarsi sono molteplici, ma nel contesto medico legale è soprattutto la valutazione secondo le direttive dell’Organizzazione Mondiale della sanità, nella recente codifica ICF (Classificazione Internazionale del Funzionamento, della Disabilità e della salute, Erikson ed.2001) nella versione YC, a fornire gli odierni strumenti di valutazione a supporto delle Commissioni Medico Legali.
L’UTILIZZO IN MEDICINA LEGALE DELLA MISURAZIONEDELLA SALUTE DEL MINORE SECONDO ICF-CY: ESEMPLIFICA-ZIONE CASISTICA
2015
The evaluation of minors within welfare contest requires an adequate multidisciplinary and interdisciplinary approach to clinical and psycho-social order. There are many evaluation’s instruments, but in the medico legal context particularly useful is the evaluation according to the guidelines of the World Health Organization, in the recent codification ICF, International Classification of Functioning, Disability and Health [1] version YC (Children and Youth) [2]. The use of minor measurement according to ICF-CY is here reported in a child’s health experience with neuropsychiatric disorders. The system ICF-CY offers a revolutionary new model that relates biological, psychological and social …
Redescription of Chiropturopoda nidiphila Wiśniewski & Hirschmann (Acari: Uropodina) from a woodpecker’s tree holes, including all development stages…
2021
All development stages of Chiropturopoda nidiphila Wiśniewski & Hirschmann, 1983 are described, which has previously been known only from the deutonymph stage. The species is closely associated with tree holes excavated by woodpeckers. Chiropturopoda nidiphila was redescribed and the genus diagnosis was completed. The description of the species morphology is based largely on scanning (SEM) electronograms. Diagnoses differentiating all of the known species of the genus Chiropturopoda are provided, including their developmental stages.
Continuous subcutaneous Insulin infusion leads to immediate, table, and long-term changes in metabolic control
2008
Background: Evaluations of continuous subcutaneous insulin infusion (CSII) usually focus on one pre- and one post-CSII measurement to assess metabolic therapy outcome. Aim: Extending this research, the aim of the present study was to provide a more fine-grained analysis of achieved glycaemic control. Methods: In 52 patients with type 1 diabetes (mean age of 37.85 years at CSII begin; s.d. ± 12.41), haemoglobin A1c (HbA1c) levels were assessed every 3 months over a period of 5 years (1 year before and 4 years after the introduction of CSII). Mixed models were utilized to describe changes in glycaemic control. Results: The pre–post course showed that already in the first quarter, a statis…
La diagnosi e suoi modelli
2015
«Esaminare accuratamente» coincide con la vera e propria osservazione e con l’uso degli strumenti, mentre «riconoscere» rimanda alla ricerca di corrispondenze tra quanto si è osservato e tutto ciò che costituisce il «sapere» dello psicodiagnosta (valutazione e conseguente decisione). Per tale motivo si può guardare alla diagnosi come processo «in fieri». La conoscenza psicodiagnostica è infatti una conoscenza «speciale» (Saraceni e Montesarchio, 1988), perché caratterizzata da scopi decisionali.
Survival Risk Scores for Real-Life Relapsed/Refractory Multiple Myeloma Patients Receiving Elotuzumab or Carfilzomib In Combination With Lenalidomide…
2022
The present study aimed to develop two survival risk scores (RS) for overall survival (OS, SRSKRd/EloRd) and progression-free survival (PFS, PRSKRd/EloRd) in 919 relapsed/refractory multiple myeloma (RRMM) patients who received carfilzomib, lenalidomide, and dexamethasone (KRd)/elotuzumab, lenalidomide, and dexamethasone (EloRd). The median OS was 35.4 months, with no significant difference between the KRd arm versus the EloRd arm. In the multivariate analysis, advanced ISS (HR = 1.31; P = 0.025), interval diagnosis–therapy (HR = 1.46; P = 0.001), number of previous lines of therapies (HR = 1.96; P < 0.0001), older age (HR = 1.72; P < 0.0001), and prior lenalidomide exposure (…