ABSTRACT
INTRODUCTION: Dementia occurring in young people may be difficult to recognize. We compared the time to diagnosis between young- (YOD, age < 65) and late-onset dementia (LOD). METHODS: Time between the onset of symptoms and the diagnosis was measured in YOD and LOD patients consecutively seen in a cognitive neurology clinic. Multivariable regression analyses were performed to identify determinants of time to diagnosis. RESULTS: Mean time to diagnosis in 95 YOD patients was 11.2 months longer than in 73 LOD patients (p = 0.022). The delay was driven by a longer time taken by YOD patients to be seen in the specialist centre, which in turn was related to the presence of language disturbances and coexisting depression. DISCUSSION: Young people take longer than elderly people to receive a dementia diagnosis because they take longer to be referred to dementia specialist centres. More awareness on YOD is needed in primary care and the public.
Subject(s)
Dementia , Adolescent , Age of Onset , Aged , Dementia/etiology , Humans , Referral and ConsultationABSTRACT
Presenilin1 (PSEN1) gene is the most common known genetic cause of early-onset familial Alzheimer's disease. We describe an Italian family with the known p.Ala260Gly mutation in PSEN1 gene. The presence of an asymptomatic 64-year-old male carrying the mutation provides evidence of a possible incomplete penetrance leading to a wider range of age at onset. In order to evaluate whether or not epigenetic modifications could contribute to the phenotypic heterogeneity, we assessed global DNA methylation levels which resulted significantly higher in the three females than in their presymptomatic brother. The study suggests that DNA methylation can contribute to slowing down or possibly protecting from the manifestation of symptoms even in monogenic diseases, emphasizing the great complexity of familial Alzheimer's disease.
Subject(s)
Alzheimer Disease , Age of Onset , Alzheimer Disease/genetics , Female , Humans , Male , Middle Aged , Mutation/genetics , Penetrance , Presenilin-1/geneticsSubject(s)
Drug Delivery Systems/instrumentation , Nicotine/administration & dosage , Nicotinic Agonists/administration & dosage , Smoking Cessation/methods , Smoking Prevention , Tobacco Use Cessation Devices , Tobacco Use Disorder/drug therapy , Administration, Inhalation , Advertising , Consumer Product Safety , Drug Delivery Systems/standards , Electronics , Equipment Design , Humans , Marketing of Health Services , Nicotine/adverse effects , Nicotinic Agonists/adverse effects , Smoking/adverse effects , Tobacco Use Cessation Devices/adverse effects , Tobacco Use Cessation Devices/standards , Tobacco Use Disorder/diagnosis , Treatment OutcomeABSTRACT
OBJECTIVE: Phenytoin (PHT) is one of the first-choice drugs in several epileptic syndromes, mostly in partial epilepsies, in which case it is effective as carbamazepine and phenobarbital. However, like any other anti-epileptic drug (AED), unpleasant side-effects are not rare. The aim of this study is the evaluation of dermatological troubles related to chronic PHT usage in female patients. METHOD: Between 1990-93, 731 new patients underwent investigation for epilepsy at the Multidisciplinary Clinic for Epilepsy in our State. In this sample 283 were AED users at the time of the first assessment. Sixty one female patients taking PHT were identified. They were taking PHT in a dosage ranging from 100 to 300 mg daily, in mono or polytherapy regimen, during 1-5 previous years. RESULTS: More than 50% of the sample showed coarse facial features made by the combination of several degrees of acne, hirsutism and gingival hyperplasia. CONCLUSION: Except in emergency situations, PHT should not be prescribed as the first option to the treatment of female epileptic patients, because not uncommonly the cosmetic side-effects are more socially handicapping than the epileptic syndrome by itself.
Subject(s)
Acne Vulgaris/chemically induced , Anticonvulsants/adverse effects , Epilepsy/drug therapy , Gingival Hyperplasia/chemically induced , Hirsutism/chemically induced , Phenytoin/adverse effects , Adolescent , Adult , Anticonvulsants/therapeutic use , Female , Follow-Up Studies , Halitosis/etiology , Humans , Middle Aged , Phenytoin/therapeutic useABSTRACT
Remote memory has been studied in a group of 25 non-demented patients with Parkinson's disease and their performance has been compared with that of 22 healthy control subjects. Only patients who scored > or = 27 on the mini mental state examination and with no anticholinergic treatment were included in the sample. A remote memory questionnaire was given, to evaluate memory for public events that occurred from 1966 to 1990. Each event was probed with five questions concerning its content and one for the date. Compared with healthy subjects, patients with Parkinson's disease were significantly impaired both in recalling the content and in dating remote events. These results support the claim that remote memory in patients with Parkinson's disease is disrupted independently of dementia. This impairment might result from a dysfunction at the level of the circuit connecting the basal ganglia to the frontal lobes.
Subject(s)
Memory Disorders/etiology , Parkinson Disease/complications , Adult , Analysis of Variance , Humans , Middle Aged , Surveys and QuestionnairesABSTRACT
Four different combinations of monoclonal antibodies against rat ICAM-1, CD-11a, and CD-18 were utilized to determine the relative importance of LFA-1, Mac-1, and ICAM-1 in a rat model of severe lung allograft reperfusion injury. Negative control animals were given phosphate buffered saline (the carrier solution for the antibodies), while positive control animals were rendered neutropenic by the administration of a polyclonal mouse IgG. Antibodies were given with the donor lung flush, prior to left lung graft reperfusion, or both. Isolated graft function was determined 24 hr after implantation by arterial blood gas (ABG), and after sacrifice the native and transplanted lungs underwent bronchoalveolar lavage for alveolar protein quantitation, cell count and differential, and myeloperoxidase assay. Additionally, whole lung homogenates were assayed for myeloperoxidase activity. We found that the combination of anti-ICAM-1 (1 mg/kg) added to the donor lung flush, and anti-CD11a, anti-CD18, and anti-ICAM-1 (2 mg/kg i.v. of each) given to the recipient prior to reperfusion, resulted in significantly improved lung graft pAO2 by ABG, and decreased alveolar protein, cell count, and myeloperoxidase activity compared with control animals. Improvement was less than that seen in the neutropenic recipients, however. We conclude that LFA-1, Mac-1, and ICAM-1 are all important adhesion molecules in lung allograft reperfusion injury--yet even with antibody blockade of all three there are additional mechanisms allowing for neutrophil influx into the lungs.
Subject(s)
Antibodies, Monoclonal/therapeutic use , CD18 Antigens/immunology , Intercellular Adhesion Molecule-1/immunology , Lung Transplantation/pathology , Reperfusion Injury/drug therapy , Animals , Arteries/chemistry , Blood Gas Analysis , Bronchoalveolar Lavage Fluid/chemistry , Drug Therapy, Combination , Leukocyte Count , Lung/enzymology , Male , Neutrophils/cytology , Peroxidase/metabolism , Proteins/analysis , Rats , Rats, Inbred F344ABSTRACT
Danazol is a synthetic steroid derived from ethisterone. Ten women with menometrorrhagia have been treated in order to demonstrate the modifications induced by Danazol on hyperplastic endometrium. Histological and hysteroscopic control demonstrated that Danazol Therapy, at a dose of 200 mg/die, is an efficacious treatment for endometrial hyperplasia.
