Search results for "Rare Disease"
showing 10 items of 154 documents
The Relapsing Polychondritis Disease Activity Index: Development of a disease activity score for relapsing polychondritis.
2012
Abstract Objective The rarity of relapsing polychondritis (RP) has hindered the development of standardized tools for clinical assessment. Here, we describe the development of a preliminary score for disease assessing activity in RP, the Relapsing Polychondritis Disease Activity Index (RPDAI). Methods Twenty-seven RP experts participated in an international collaboration. Selection and definition of items for disease activity were established by consensus during a 4-round internet-based Delphi survey. Twenty-six experts assessed the Physician's Global Assessment (PGA) of disease activity on 43 test cases on a 0–100 scale, yielding a total of 1118 PGA ratings. The weight of each item was est…
Associations of ofatumumab exposure and treatment outcomes in patients with untreated CLL receiving chemoimmunotherapy
2016
Relationships between patient characteristics, ofatumumab pharmacokinetics, and treatment outcomes were investigated in this phase 2 trial of ofatumumab plus fludarabine and cyclophosphamide (FC) in untreated chronic lymphocytic leukemia. Patients were randomized 1:1 to receive 500 or 1000 mg ofatumumab (Cycle 1; 300 mg) plus FC every 4 weeks for six cycles. Median C(max) and C(trough) values were similar at Cycle 1 regardless of the ultimate clinical outcome. At later doses, these values were higher for patients with complete response (CR) than for other patients. Higher C(max) and C(trough) values at Cycles 3 and 6 were significantly associated with an increased likelihood of CR, whereas …
Phase III Trial of Avelumab Maintenance After First-Line Induction Chemotherapy Versus Continuation of Chemotherapy in Patients With Gastric Cancers:…
2021
PURPOSE The role of maintenance therapy for gastric (GC) or gastroesophageal junction cancer (GEJC) is unclear. We investigated avelumab (anti–programmed death ligand-1 [PD-L1]) maintenance after first-line induction chemotherapy for GC/GEJC. PATIENTS AND METHODS JAVELIN Gastric 100 was a global, open-label, phase III trial. Eligible patients had untreated, unresectable, human epidermal growth factor receptor 2–negative, locally advanced or metastatic GC or GEJC. Patients without progressive disease after 12 weeks of first-line chemotherapy with oxaliplatin plus a fluoropyrimidine were randomly assigned 1:1 to avelumab 10 mg/kg every 2 weeks or continued chemotherapy, stratified by region (…
Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.
2019
International audience; Epidemiologic studies show an increased risk of non-Hodgkin lymphoma (NHL) in patients with autoimmune disease (AD), due to a combination of shared environmental factors and/or genetic factors, or a causative cascade: chronic inflammation/antigen-stimulation in one disease leads to another. Here we assess shared genetic risk in genome-wide-association-studies (GWAS). Secondary analysis of GWAS of NHL subtypes (chronic lymphocytic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, and marginal zone lymphoma) and ADs (rheumatoid arthritis, systemic lupus erythematosus, and multiple sclerosis). Shared genetic risk was assessed by (a) description of regional g…
Testicular germ-cell tumours and penile squamous cell carcinoma: Appropriate management makes the difference
2019
Germ-cell tumours (GCT) of the testis and penile squamous cell carcinoma (PeSCC) are a rare and a very rare uro-genital cancers, respectively. Both tumours are well defined entities in terms of management, where specific recommendations - in the form of continuously up-to-dated guide lines- are provided. Impact of these tumour is relevant. Testicular GCT affects young, healthy men at the beginning of their adult life. PeSCC affects older men, but a proportion of these patients are young and the personal consequences of the disease may be devastating. Deviation from recommended management may be a reason of a significant prognostic worsening, as proper treatment favourably impacts on these t…
Breast Cancer in Men: Oncology
2020
Breast cancer in men (BCiM) is a very rare disease that is still understudied and most of the published data comes from small cohorts of patients, compared to breast cancer in women. Genetic factors are among the most clearly established risk factors for male breast cancer, and mainly involve BRCA1 and BRCA2 tumor-suppressor genes.
Management of a primary malignant melanoma of uterine cervix stage IVA patient with radical surgery and adjuvant oncolytic virus Rigvir® therapy: A c…
2020
Abstract Primary malignant melanoma of the uterine cervix is a rare disease with poor prognosis and high recurrence rate. We used Rigvir® as adjuvant therapy for a stage IVA patient. Tolerability, overall and progression‐free survival are good.
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia
2020
Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis. The panel was tested in nasal brushing samples of 74 patients with clinical suspic…
Endogene Candida-Endophthalmitis bei Patienten mit schweren Allgemeinerkrankungen
2005
Background: Endogenous Candida endophthalmitis is a rare disease with increasing frequency and poor prognosis. Patients and Methods: The course of endogenous Candida endophthalmitis in 7 eyes of 5 patients (age 2 months to 76 years) was evaluated. Underlying general diseases were diagnosed as colon cancer, diverticulitis, pancreatic insufficiency (with subclavian catheter), ileus and diabetes mellitus. Diagnosis was based on the very typical ocular feature combined with a positive blood or vitreous culture. Intensive antimycotic drug therapy was initiated and pars plana vitrectomy performed as soon as possible. Results: The delay between onset of ocular symptoms and diagnosis amounted to on…
A rare case of solitary brain Langerhans cell histiocytosis with intratumoral hemorrhage in a patient affected by Turner syndrome
2016
Background: Langerhans cell histiocytosis (LCH) is a rare disease involving clonal proliferation of cells with characteristics similar to bone marrow-derived Langerhans cells. The case of a young woman, affected by Turner syndrome and a solitary intraparenchymal LCH associated with an osteolytic lesion of the overlying skull, is presented. Case Description: The patient, with an insidious history of headache and a growing soft mass in the left frontal region, presented with a sudden generalized tonic-clonic epileptic seizure. Neuroradiological investigations showed an osteolytic lesion of the left frontal bone and an underlying brain lesion associated with recent signs of bleeding. The patie…