Search results for "Clinical diagnosis"
showing 10 items of 60 documents
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization
2020
Simple Summary Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancer (RCC), with no data on its prevalence worldwide. No genotype-phenotype associations have been described. The aim of our study was to describe the genotypic and phenotypic features of the largest series of patients with HLRCC from Spain reported to date. Of 27 FH germline pathogenic variants, 12 were not previously reported in databases. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function varia…
Congenital muscular dystrophy: from muscle to brain.
2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder. Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis. In this article, the Authors report on CMDs belonging to the group of dystroglyc…
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome
2018
Abstract Aim Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type I and the pros and cons of newborn screening. Methods An international working group was established to discuss ways to improve the early diagnosis of mucopolysaccharidosis type I. It consisted of 13 experts in paediatrics, rare diseases and inherited metabolic diseases from Europe and the Middle East. Results It is becoming increasingly clearer that the delay between symptom onset and clinical diagnosis is considerable for mucopolysacc…
Diagnostic Criteria for Parkinson's Disease: From James Parkinson to the Concept of Prodromal Disease.
2018
The diagnosis of Parkinson’s disease (PD) is based on clinical features and differently to the common opinion that detecting this condition is easy, seminal clinico-pathological studies have shown that up one-fourth of patients diagnosed as PD during life has an alternative diagnosis at post-mortem. The misdiagnosis is even higher when only the initial diagnosis is considered, since the diagnostic accuracy improves by time, during follow-up visits. Given that the confirmation of the diagnosis of PD can be only obtained through neuropathology, to improve and facilitate the diagnostic-therapeutic workup in PD, a number of criteria and guidelines have been introduced in the last three decades.…
DESARROLLO EVOLUTIVO Y SEVERIDAD DEL TRASTORNO DEL ESPECTRO AUTISTA EN NIÑOS: RELACIÓN CON EL CI
2016
El Trastorno del Espectro Autista (TEA) es un trastorno del neurodesarrollo que se caracteriza principalmente por la alteración en el área de la comunicación social. Es importante su identificación temprana para su intervención. Nuestro estudio pretende estudiar qué áreas del desarrollo están más afectadas y su relación con la severidad del diagnóstico. Para ello participaron 51 familias con niños con diagnóstico clínico de Trastorno del Espectro Autista. Se administraron pruebas de CI verbal y no-verbal, el test Gars-2 y el Inventario de Desarrollo de la Battelle. Los resultados mostraron que las áreas de comunicación expresiva y personal/social estaban más deterioradas en los sujetos de l…
Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease
2021
Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the defective biliary excretion of copper. The subsequent gradual accumulation of copper in different organs produces an extremely variable clinical picture, which comprises hepatic, neurological psychiatric, ophthalmological, and other disturbances. WD has a specific treatment, so that early diagnosis is crucial to avoid disease progression and its devastating consequences. The clinical diagnosis is based on the Leipzig score, which considers clinical, histological, biochemical, and genetic data. However, even patients with an initial WD diagnosis based on a high Leipzig score may harbor other conditions th…
A comparison among different techniques for human ERG signals processing and classification
2014
A comparison among different techniques for human ERG signals processing and classification ( Articles not published yet, but available online Article in press About articles in press (opens in a new window) ) Barraco, R.a, Persano Adorno, D.a , Brai, M.a, Tranchina, L.b a Dipartimento di Fisica e Chimica, Università di Palermo and CNISM, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy b Laboratorio di Fisica e Tecnologie Relative - UniNetLab, Università di Palermo, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy Abstract Feature detection in biomedical signals is crucial for deepening our knowledge about the involved physiological processes. To achieve this aim, many analytic appro…
Mothers’ stress and behavioral and emotional problems in children with ADHD. Mediation of coping strategies
2020
The present study compared mothers' stress and the behavioral/emotional problems of children with attention deficit hyperactivity disorder (ADHD) and children with typical development (TD). Furthermore, the relationships among the mothers' stress, the children's behavioral/emotional problems, and the mothers' coping strategies in both groups were identified. The contribution of behavioral/emotional problems to parenting stress in children with ADHD was also studied through mediation effects of the mothers' coping strategies. The parenting stress, coping orientation to problems, and strengths and difficulties questionnaires were administered to 72 mothers of children from 7 to 11 years old: …
Morphology and dimensions of the dentogingival unit in the altered passive eruption.
2011
Objetives: This study define altered passive eruption (APE) and evaluate the morphology of the dentogingival unit. Material and Methods: 123 individuals subjected to clinical examination and parallel profile radiography of the upper central incisor. An evaluation was made of the correlation between the clinical diagnosis of APE and the degree of gingival overlap; by using a 19% overlap to define APE (Kappa concordance index = 0.7). The Mann-Whitney / Wilcoxon test was used to identify the variables influencing APE. Results: Statistically significant differences were observed between the teeth with and without APE: gingival width (p = 0.0073), clinical crown length (p = 0.0000), smiling expo…
Interobserver Agreement in the Diagnosis of Multiple Sclerosis
1989
• Interobserver agreement in the clinical diagnosis of multiple sclerosis (MS) among six neurologists was evaluated. Three of them participated in a study of the clinical diagnosis of MS, the Italian Multicenter Study (IMS). The raters examined the clinical forms of MS of 50 patients randomly selected from among 430 patients recruited from the IMS. For each patient, neurologists were asked to make a diagnosis according to the McDonald-Halliday classification system of MS. The overall agreement on the diagnosis (MS present or absent) was fair, with no difference noted between the two groups of raters. Considering the six diagnostic levels instead, the reliability was higher for the neurologi…