Search results for "DIAGNOSI"
showing 10 items of 2319 documents
Relevance of diagnostic investigations in chronic inflammatory demyelinating poliradiculoneuropathy: Data from the Italian CIDP database
2020
The objective of our work was to report the clinical features and the relevance of diagnostic investigations in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). We retrospectively reviewed data from patients with a clinical diagnosis of CIDP included in a national database. Among the 500 included patients with a clinical diagnosis of CIDP, 437 patients (87%) fulfilled the European Federation of Neurological Societies and Peripheral Nerve Society criteria for CIDP (definite in 407, probable in 26, possible in four). In 352 patients (86%) motor nerve conduction abnormalities consistent with demyelination were sufficient for the diagnosis of definite CIDP. In 55 …
An unusual association of left‐sided gastroschisis and persistent right umbilical vein
2018
Key Clinical Message Gastroschisis is a full‐thickness congenital abdominal wall defect usually occurring to the right of the umbilicus. About twenty cases of left‐sided gastroschisis have been reported, without reference to the laterality of the umbilical vein. This first case highlights the importance of considering and reporting this association by the perinatal team.
Optimal application of compressive palatal stents following mesiodens removal in pediatric patients:a Randomized Controlled Trial
2021
Background There is no scientific evidence supporting the choice of a palatal stent in patients who underwent removal of an impacted supernumerary tooth. We aimed to investigate the effects of palatal stents in patients who underwent supernumerary tooth removal through a palatal approach and to suggest the optimal stent thickness and material. Material and Methods We recruited 144 patients who underwent extraction of a supernumerary tooth between the maxillary anterior teeth. Subjects were assigned to a control group (CG) or one of four compressive palatal stent groups (CPSGs) classified by the thickness and material of the thermoplastic acrylic stent used. Palatal gingival swelling and obj…
Is COVID‐19 infection more severe in kidney transplant recipients?
2021
International audience; There are no studies which have compared the risk of severe Covid-19 and related mortality between transplant recipients and non-transplant patients. We enrolled two groups of patients hospitalized for Covid-19, i.e., kidney transplant recipients from the French Registry of Solid Organ Transplant (n=306) and a single-center cohort of non-transplant patients (n=795). An analysis was performed among subgroups matched for age and risk factors for severe Covid-19 or mortality. Severe Covid-19 was defined as admission (or transfer) to an intensive care unit, need for mechanical ventilation, or death.Transplant recipients were younger and had more comorbidities compared to…
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 …