Search results for "HM"
showing 10 items of 10594 documents
A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer
2005
A group of 103 sicilian patients with hereditary and familiar breast and/or ovarian cancer were screened for Breast Cancer 1 gene (BRCA1) mutations by direct sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. In this study, we report a new germline mutation in BRCA1 gene, not previously reported in the BIC database, in a woman with ovarian cancer at 46 years old. Mother's proband has been diagnosed the same histotype of ovarian cancer at 42 age. The mutational analyses that shown a 4843delC frameshift mutation in exon 16 of BRCA1 gene was extended to other family members including the proband's brother and her two sons. Direct automatic sequen…
BRAFV600E Mutation and p27kip1 Expression in Papillary Carcinomas of the Thyroid ≤1 cm and Their Paired Lymph Node Metastases
2007
BACKGROUND. BRAFV600E mutation and p27kip1 expression have been introduced as novel indicators that may predict prognosis in different tumors, as well as in papillary thyroid carcinomas. METHODS. Tissue samples from 214 consecutive patients who underwent total or near-total thyroidectomy with histological diagnosis of papillary thyroid carcinoma (PTC) ≤1 cm were analyzed for BRAFV600E mutation by a real-time, allele-specific amplification and for p27kip1 expression by immunohistochemistry. RESULTS. The BRAFV600E mutation was detected in 88 of the tumors examined, with significant differences between groups with and without lymph node (LN) metastases; the mean age of patients with BRAFV600E …
Fine-Needle Aspiration (FNAB) Molecular Analysis for the Diagnosis of Papillary Thyroid Carcinoma through BRAFv600E mutation and RET/PTC rearrangement
2007
Objective: To evaluate BRAFV600E mutation on consecutive fine-needle aspiration biopsy (FNAB) specimens in order to assess FNAB’s usefulness in preoperative papillary thyroid carcinoma (PTC) diagnosis with the contemporaneous analysis of RET=PTC1 and RET=PTC3 rearrangements obtained from ex vivo thyroid nodules. Design: Thyroid FNABs from 156 subjects with nodules and 49 corresponding surgical samples were examined for the presence of BRAF mutation by real-time allele-specific polymerase chain reaction, confirmed with the use of a laser pressure catapulting system. Samples were also examined for RET=PTC rearrangements. The results were compared with the cytological diagnosis and histopathol…
Two-year outcome in first-episode psychosis treated according to an integrated model. Is immediate neuroleptisation always needed?
2000
SummaryIn this multicentre study the two-year outcome of two groups of consecutive patients (total N = 106) with first-episode functional non-affective psychosis, both treated according to the ‘need-specific Finnish model’, which stresses teamwork, patient and family participation and basic psychotherapeutic attitudes, was compared. No alternative treatment facilities were available in the study sites. The two study groups differed in the use of neuroleptics: three of the sites (the experimental group) used a minimal neuroleptic regime whilst the other three (the control group) used neuroleptics according to the usual practice. Total time spent in hospital, occurrence of psychotic symptoms …
Benchmarking of cognitive-behavioral therapy for depression in efficacy and effectiveness studies--how do exclusion criteria affect treatment outcome?
2011
Abstract Objective: Little is known about how exclusion criteria applied in randomized controlled trials (RCTs) affect the transfer of psychotherapy outcome research to naturalistic settings. This study evaluated the effects of naturalistic depression therapies and benchmarked them with published RCTs. Method: Commonly used exclusion criteria were applied to n=338 depressive patients receiving cognitive-behavioral therapy. Outcomes of the resulting subsample eligible for RCTs were compared to those reported in RCTs. Results: Treatment outcomes of the total sample (d=1.16) and the subsample eligible for RCTs (d=1.15) were highly similar. Therapy outcome was worse than in high-quality RCTs (d…
Bronchoconstriction induced by inhaled adenosine 5′-monophosphate in subjects with allergic rhinitis
2001
Adenosine and its related nucleotide, adenosine 5′-monophosphate (AMP) induce bronchoconstriction in asthmatics, probably caused by histamine release from airway mast cells. The objective of this study was to determine the effect of inhaled AMP on lung function in subjects with allergic rhinitis.A total of 52 adults (28 subjects with allergic rhinitis, 14 asthmatics and 10 healthy subjects) were challenged with increasing concentrations of AMP and methacholine. Airflow was assessed after each concentration and the response to each bronchoconstrictor agent was measured by the provocative concentration required to produce a 20% fall (PC20) in forced expired volume in one second (FEV1).All 14 …
Airway Responsiveness to Inhaled Acetaldehyde in Subjects with Allergic Rhinitis: Relationship to Methacholine Responsiveness
2002
<i>Background:</i> Asthmatic subjects have an exaggerated airway response to inhaled acetaldehyde, but no information is available on airway responsiveness to this bronchoconstrictor agent in subjects with allergic rhinitis. <i>Objective:</i> The aim of this study was to determine the effect of inhaled acetaldehyde on lung function in nonasthmatic subjects with allergic rhinitis. <i>Methods:</i> A total of 78 adults (43 subjects with allergic rhinitis, 16 asthmatics and 19 healthy subjects) were challenged with increased concentrations of acetaldehyde and methacholine. The response to each bronchoconstrictor agent was measured by the provocative concentra…
Exhaled Nitric Oxide and Bronchial Responsiveness to Adenosine 5′-Monophosphate in Subjects With Allergic Rhinitis
2002
Study objectives: To determine differences in exhaled nitric oxide (ENO) between subjects with allergic rhinitis with and without increased responsiveness to direct and indirect bronchoconstrictor agents. Study design: Cross-sectional study with the order of challenge tests randomized. Setting: Specialist allergy unit in a university hospital. Patients: Thirty-eight subjects without asthma with allergic rhinitis and 10 healthy nonatopic control subjects. Measurements and results: Participants were challenged with increasing concentrations of adenosine 5monophosphate (AMP) and methacholine. ENO was measured with the singleexhalation method. A positive response to both bronchoconstrictor agen…
Serum Levels of Soluble CD23 in Patients with Asthma or Rhinitis Monosensitive to Parietaria. Its Relation to Total Serum IgE levels and Eosinophil C…
1999
The diagnostic value for allergies of the low affinity IgE receptor and its soluble circulating fragment (sCD23) remains unclear. In particular, little is know about seasonal influences on serum sCD23 levels in subjects with pollen allergy. In the present study, to gain insight into pathophysiological role of sCD23, we have analyzed, in blood from patients allergic to Parietaria sCD23, IgE, and eosinophil cationic protein (ECP) serum levels. IgE were assessed as atopy markers and ECP as an inflammation marker. Patients were studied during and out of pollen season, and results were compared to those obtained in nonallergic subjects. The study population included 42 nonsmoking outpatients, li…
Deep inspiration-induced changes in lung volume decrease with severity of asthma
2007
Summary We have previously reported that the magnitude of deep inspiration (DI)-induced bronchodilation is only slightly reduced in mild asthmatics, compared to healthy subjects. The aim of this study was to evaluate whether increased severity of asthma is associated with impairment in the ability of DI to induce changes in lung volume. Thirty-six consecutive asthmatics recruited from the Pulmonary and the Allergy Outpatient Clinics of the Institute of Respiratory Diseases of the University of Palermo were divided into 3 groups: Intermittent (I), Mild Persistent (MP) and Moderate–Severe (MS), based on GINA guidelines. Single dose methacholine (Mch) bronchoprovocations were performed in the …