Search results for "HOMA"
showing 10 items of 956 documents
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals
2020
Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the recurrent heterozygous missense variant NM_006494.2:c.266A>G; p.(Tyr89Cys) in ERF on chromosome 19q13.2, encoding the ETS2 repressor factor (ERF) protein. The pathomechanism of Chitayat syndrome is unknown. To date, seven individuals with Chitayat syndrome and the recurrent pathogenic ERF variant have been reported in the literature. Here, we describe six additional individuals, among them only one presenting with a history of assisted ventil…
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
2013
Abstract Objective To determine the spectrum of gene mutations and the genotype–phenotype correlations in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in Italy. Methods The resequencing of LDLR , PCSK9 genes and a selected region of APOB gene were conducted in 1018 index subjects clinically heterozygous ADH and in 52 patients clinically homozygous ADH. The analysis was also extended to 1008 family members of mutation positive subjects. Results Mutations were detected in 832 individuals: 97.4% with LDLR mutations, 2.2% with APOB mutations and 0.36% with PCSK9 mutations. Among the patients with homozygous ADH, 51 were carriers of LDLR mutations and one was an LDLR / …
Primary gastrointestinal involvement in non-Hodgkin's lymphomas.
1987
This paper reviews primary gastrointestinal non-Hodgkin's lymphoma (GI-NHL). Every aspect of the topic is discussed though special attention is paid to histopathology and instrumental diagnosis as essential factors to stage the lymphoma and to determine an adequate therapy. Data from the most important works on the subject together with the results of our recent study of 40 primary GI-NHL are reported. Diverse findings by various authors are intentionally compared in a manner to present the work to the reader in the most critical way while trying to give an objective explanation of the different results on the basis of our own experience.
The Cohort of Long-term Survivors at the German Childhood Cancer Registry
2008
Background With the increasing number of long-term survivors among patients diagnosed with cancer during childhood, questions concerning late effects have become a major research topic. To ascertain late effects, it is necessary to contact former patients. An essential requirement for such studies is a long-term surveillance (LTS) of former childhood cancer patients in their adolescence and their adulthood. The paper describes the role of the German Childhood Cancer Registry (GCCR) in LTS. A cohort of long-term survivors has been built up over the years. The characteristics of this LTS cohort and strategies for further improvement of LTS will be presented. Patients and methods Since 1980 th…
Laser treatment of giant xanthelasma palpebrarum
2013
Xanthelasma palpebrarum is the most common cutaneous xanthoma. It typically presents in middle-aged and older adults, most often around the eyelids. The diagnosis is made clinically. Giant xanthelasmas palpebrarum are xanthelasmas that extensively affect the superior and inferior bilateral eyelids. Many techniques have been put forward for treating these lesions (surgical, laser, and chemical techniques), but we describe our experience in the treatment of giant xanthelasmas by ultrapulsed CO2 laser. Between 2009 and 2012, in the Division of Plastic and Reconstructive Surgery at the University of Palermo, 12 patients with giant xanthelasmas were treated using a CO2 laser. The laser parameter…
Alemtuzumab (Campath-1H) and CHOP chemotherapy as first-line treatment of peripheral T-cell lymphoma: results of a GITIL (Gruppo Italiano Terapie Inn…
2007
To evaluate in a prospective multicenter trial the feasibility and clinical efficacy of the combination of alemtuzumab (Campath-1H) with the cyclophosphamide/doxorubicin/vincristine/prednisone (CHOP) regimen (CHOP-C) as the primary treatment for patients with peripheral T-cell lymphoma (PTCL), between January 2003 and December 2005, 24 consecutive patients with PTCL entered the study and received 8 CHOP courses. Alemtuzumab was added at 30 mg subcutaneously at day −1 initially to the first 4 courses (4 patients), and then to all 8 courses (20 patients). Complete remission (CR) was achieved in 17 (71%) patients, 1 had partial remission, and 6 had stable/progressive disease. At a median follo…
Ceftolozane Pharmacokinetics in a Septic Critically Ill Patient under Different Extracorporeal Replacement Therapies
2019
Ceftolozane-tazobactam (C/T), a novel fifth-generation cephalosporin/β-lactamase inhibitor combination active against multidrug-resistant (MDR) Pseudomonas aeruginosa, is currently approved by the U.S. Food and Drug Administration (FDA) to treat complicated intra-abdominal and urinary tract
Selection and characterization of a novel agonistic human recombinant anti-Trail-R2 minibody with anti-leukemic activity
2009
Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) is a promising natural anticancer therapeutic agent because through its “death receptors”, TRAIL-R1 and TRAIL-R2, it induces apoptosis in many transformed tumor cells, but not in the majority of normal cells. Hence, agonistic compounds directed against TRAIL death receptors have the potential of being excellent cancer therapeutic agents, with minimal cytotoxicity in normal tissues. Here, we report the selection and characterization of a new single-chain fragment variable (scFv) to TRAIL-R2 receptor isolated from a human phage-display library, produced as minibody (MB), and characterized for the in vitro anti-leukemic tumoricid…
Geometry of the projectivization of ideals and applications to problems of birationality
2018
In this thesis, we interpret geometrically the torsion of the symmetric algebra of the ideal sheaf I_Z of a scheme Z defined by n+1 equations in an n-dimensional variety. This is equivalent to study the geometry of the projectivization of I_Z. The applications of this point of view concern, in particular, the topic of birational maps of the projective space of dimension 3 for which we construct explicit birational maps that have the same algebraic degree as their inverse, free and nearly-free curves for which we generalise a characterization of free curves by extending the notion of Milnor and Tjurina numbers. We tackle also the topic of homaloidal hypersurfaces, our original motivation, fo…