Search results for " phenotype"
showing 10 items of 219 documents
Clinical Evolution and Quality of Life in Clinically Based COPD Chronic Bronchitic and Emphysematous Phenotypes: Results from the 1-Year Follow-Up of…
2021
Francesco Blasi, 1, 2 Raffaele Antonelli Incalzi, 3 Giorgio Walter Canonica, 4 Pietro Schino, 5 Giuseppina Cuttitta, 6 Alessandro Zullo, 7 Alessandra Ori, 7 Nicola Scichilone 8 On behalf of STORICO study group 1Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, 20122, Italy; 2Department of Pathophysiology and Transplantation, University of Milan, Milan, 20122, Italy; 3University Biomedical Campus of Rome, Rome, 00128, Italy; 4Personalized Medicine Asthma & Allergy Clinic Humanitas University Humanitas research Hospital Rozzano, Rozzano (Milan), 20089, Italy; 5Miulli Hospital, Acquaviva …
Diagnostic algorithm for familial chylomicronemia syndrome
2016
International audience; Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disease that leads to severe hypertriglyceridemia often associated with recurrent episodes of pancreatitis. The recognition and correct diagnosis of the disease is challenging due to its rarity, and to the lack of specificity of signs and symptoms. Lipid experts, endocrinologists, gastroenterologists, pancreatologists, and general practitioners may encounter patients who potentially have FCS. Therefore, cooperation between experts and improved knowledge of FCS is essential in improving the diagnosis. Currently, a consensus on best practice for the diagnosis of FCS is lacking. Methods: Aiming to def…
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of…
2022
Abstract Background Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynost…
Comparison of Nonclassic and Classic Phenotype of Hypertrophic Cardiomyopathy Focused on Prognostic Cardiac Magnetic Resonance Parameters: A Single-C…
2022
Patients with nonclassic phenotypes (NCP)—more advanced stages of hypertrophic cardiomyopathy (HCM)—constitute an intriguing and heterogeneous group that is difficult to diagnose, risk-stratify, and treat, and often neglected in research projects. We aimed to compare cardiac magnetic resonance (CMR) parameters in NCP versus classic phenotypes (CP) of HCM with special emphasis given to the parameters of established and potential prognostic importance, including numerous variables not used in everyday clinical practice. The CMR studies of 88 patients performed from 2011 to 2019 were postprocessed according to the study protocol to obtain standard and non-standard parameters. In NCP, the late …
Phenotypic and genotypic evaluation of slime production by conventional and molecular microbiological techniques.
2009
Twenty-nine staphylococcal isolates from different clinical samples were tested for slime production: phenotypic characterization was carried out using Christensen test (tube test) and Congo red agar plate test (CRA plate test), while the presence and expression of icaA and icaD genes were evaluated by real-time PCR. In 79.3% of studied strains there was a concordance between slime production and presence of icaA and icaD genes, and between lack of slime production and absence of both or only one of the tested genes. In four of five strains where positive phenotype was not associated with the presence of ica genes, gene co-expression (evaluated by mRNA determination) was lacking, while in o…
Traditional Chinese medicines (TCMs) for molecular targeted therapies of tumours.
2009
Scientific progress in genetics, cell and molecular biology has greatly ameliorated our comprehensive understanding of the molecular mechanisms of neoplastic transformation and progression. The rapidly advancing identification of molecular targets in human cancers during the last decade has provided an excellent starting point for the development of novel therapeutics. A huge variety of potential molecular targets have been identified, many of which are already in the market for therapeutic purposes. It is now becoming possible to target pathways and/or molecules that are crucial in maintaining the malignant phenotype. Traditional Chinese medicine (TCM) is often considered as alternative or…
Atherogenic lipoprotein phenotype and LDL size and subclasses in women with gestational diabetes.
2008
AIMS: Women with gestational diabetes are more likely to develop Type 2 diabetes and cardiovascular disease after pregnancy; however, the exact nature of the lipid alterations present is not clear. In Mediterranean women with gestational diabetes, we measured low-density lipoprotein (LDL) size and all seven subclasses, as well as the 'atherogenic-lipoprotein phenotype'[ALP, e.g. concomitant presence of elevated triglycerides, reduced high-density lipoprotein (HDL)-cholesterol and increased small, dense LDL]. METHODS: In 27 women with gestational diabetes and 23 healthy pregnant women matched for age, weeks of gestation and body mass index, we measured plasma lipids and LDL size and subclass…
Can we compare haemophilia carriers with clotting factor deficiency to male patients with mild haemophilia?
2020
Introduction Certain haemophilia carriers demonstrate an increased bleeding tendency, mainly related to clotting factor deficiency. No study has so far formally compared the bleeding phenotype of women and girls with mild FVIII or FIX deficiency and associated management with that of male patients affected by mild haemophilia A and B. Material and methods We retrospectively evaluated 44 women and girls with mild FVIII or FIX deficiency (FVIII or FIX 0.05-0.5 IU/mL) and 77 male patients with mild haemophilia A or B and compared them with respect to clotting factor level, age at and trigger for diagnosis, as well as treatment modalities. Results After excluding gender-related haemorrhagic sym…
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
2009
International audience; Congenital contractural arachnodactyly (CCA) is an extremely rare disease, due to mutations in the FBN2 gene encoding fibrillin-2. Another member of the fibrillin family, the FBN1 gene, is involved in a broad phenotypic continuum of connective-tissue disorders including Marfan syndrome. Identifying not only what is in common but also what differentiates these two proteins should enable us to better comprehend their respective functions and better understand the multitude of diseases in which these two genes are involved. In 1995 we created a locus-specific database (LSDB) for FBN1 mutations with the Universal Mutation Database (UMD) tool. To facilitate comparison of …
Impact of parasitoid-associated polydnaviruses on plant-mediated herbivore interactions
2022
Insect herbivores interact via plant-mediated interactions in which one herbivore species induces changes in plant quality that affects the performance of a second phytophagous insect that shares the food plant. These interactions are often asymmetric due to specificity in induced plant responses to herbivore attack, amount of plant damage, elicitors in herbivore saliva and plant organ damaged by herbivores. Parasitoids and their symbiotic polydnaviruses alter herbivore physiology and behaviour and may influence how plants respond to parasitized herbivores. We argue that these phenomena affect plant-mediated interactions between herbivores. We identify that the extended phenotype of parasit…