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Seventh Decade (seventh + decade)
Selected AbstractsDMD exon 1 truncating point mutations: Amelioration of phenotype by alternative translation initiation in exon 6,HUMAN MUTATION, Issue 4 2009Olga L. Gurvich Abstract Mutations in the DMD gene result in two common phenotypes associated with progressive muscle weakness: the more severe Duchenne muscular dystrophy (DMD) and the milder Becker muscular dystrophy (BMD). We have previously identified a nonsense mutation (c.9G>A; p.Trp3X) within the first exon of the DMD gene, encoding the unique N-terminus of the 427-kDa muscle isoform of the dystrophin protein. Although this mutation would be expected to result in severe disease, the clinical phenotype is very mild BMD, with ambulation preserved into the seventh decade. We identify the molecular mechanism responsible for the amelioration of disease severity to be initiation of translation at two proximate AUG codons within exon 6. Analysis of large mutational data sets suggests that this may be a general mechanism of phenotypic rescue for point mutations within at least the first two exons of the DMD gene. Our results directly demonstrate, for the first time, the use of alternate translational initiation codons within the DMD gene, and suggest that dystrophin protein lacking amino acids encoded by the first five exons retains significant function. Hum Mutat 0:1,8, 2009. © 2009 Wiley-Liss, Inc. [source] Cutaneous melanoma in a desert climate zone: a retrospective study of 125 casesINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 4 2010Zahra Rahnama MD Background, With increasing incidence over the last few decades, cutaneous malignant melanoma (CM) represents 3% of all skin tumors, and accounts for 75% of all deaths because of cutaneous malignancies. Little is known about the nature and epidemiology of CM in individuals with pigmented skin. Method, Data were collected from the records of four public and private histopathology laboratories of Kerman city from March 20, 1994 to March 20, 2004. Skin biopsies with a diagnosis of CM were reevaluated to confirm the diagnosis of CM. The medical records of the patients were also taken into consideration. Results, A total of 125 CMs were found. The male-to-female ratio was 1.08 : 1. The mean age at the time of diagnosis was 58.9 years; with a peak in the seventh decade of life. Acral-lentiginous melanoma (ALM) represented 28.8% and; nodular melanoma occurred in 20% of cases. Limbs were the site of occurrence in 44% of tumors; whereas 36% of tumors occurred in head and neck region. There was a significant correlation between age and ALM (P = 0.007) and also between gender and melanoma types (P = 0.024). Conclusions, This study indicates that some demographic and histopathologic features of CM in this population differ from those in the literature. More studies including cohort studies are needed to fully describe the nature and survival rate of CM in this area. [source] Differences in age at onset and familial aggregation between clinical types of idiopathic Parkinson's diseaseMOVEMENT DISORDERS, Issue 9 2004Alexei Korchounov MD Abstract Idiopathic Parkinson's disease (PD) can be subdivided by its patterns of motor symptoms into tremor-dominant (TDT), akinetic-rigid (ART), and mixed type (MT). Our objective was to determine whether age at onset and family history are different in these three types. In total, 366 patients with PD were assigned in a standardized approach to one of the three subtypes. Age at onset and family history were obtained in all patients and all presumably affected family members were examined. Mean ages at disease onset were similar in all three groups, but distribution of age at onset was markedly different: monophasic in TDT with a peak around 60 years, biphasic in ART with two peaks, one in the middle of the sixth decade (earlier onset, ART-EO), another during the first half of the seventh decade (later onset, ART-LO), and increasing with age only in MT patients A positive family history was significantly associated only with TDT (odds ratio = 5.7) and ART-EO (odds ratio = 7.8), but not with MT or ART-LO patients. Segregation analysis suggested an autosomal recessive mode of transmission in ART-EO and an autosomal dominant mode of transmission in TDT. © 2004 Movement Disorder Society [source] Should being aged over 70 years hinder penile prosthesis implantation?BJU INTERNATIONAL, Issue 6 2009Amr Al-Najar OBJECTIVE To assess the satisfaction profiles following penile prosthesis surgery in patients with erectile dysfunction (ED) in their seventh decade of life. PATIENTS AND METHODS In all, 174 patients received, for the first time, a penile prosthesis between 1990 and 2007 in our department. Among these, 35 patients were aged ,70 years at prosthesis implantation. Of these, 18 patients were still alive at the time of follow-up. Using a telephone survey, patients were asked to answer the Erectile Dysfunction Inventory of Treatment Satisfaction (EDITS) as well as the International Index of Erectile Dysfunction (IIEF). Another question in the survey was developed by the authors based on a comprehensive review of the literature, which assessed the usefulness of the device for the patient and the degree of their usage. This was formulated as follows: How many times per 2 weeks do you have a sexual intercourse? RESULTS In all, 15 of 18 patients were either very or somewhat satisfied (83%). At follow-up 11 out of 15 (73%) patients were using their prosthesis regularly. The mean IIEF and EDITS scores were 21.80 and 75.20, respectively. CONCLUSION A penile prosthesis remains a highly promising treatment in older patients with a similar satisfaction rate to those published for younger patients. Thus, the motivation of the patient and not the age of the patient should be the main determinant factor in this surgical procedure. [source] Facial skin fluorescence as a marker of the skin's response to chronic environmental insults and its dependence on ageBRITISH JOURNAL OF DERMATOLOGY, Issue 1 2006G.N. Stamatas Summary Background, Throughout life facial skin is exposed to a variety of adverse environmental conditions and is constantly required to repair itself. The rate of epidermal cell proliferation is indicative of the skin's repair rate and can be monitored noninvasively in vivo using skin intrinsic fluorescence markers. Objectives, The goal of the present study was to assess the effects of ageing, geographical region, ethnic origin and season on the ability of facial skin to repair itself in the presence of chronic environmental insults using in vivo fluorescence spectroscopy. Methods, Skin fluorescence emission was measured on the cheeks of 522 individuals in winter and repeated in summer in five different geographical locations in the Asia-Pacific region. Fluorescence emission was also measured from 80 caucasians of fair complexion in the United States (New Jersey area) on the face and on a relatively protected area (upper inner arm). The age range of the participants was 14,75 years. Results, We found that epidermal proliferation rates decrease monotonically with age, while the fluorescence of collagen and elastin cross-links increases with age indicating accumulation of advanced glycation end-products. These trends were independent of geographical region, ethnic origin and season of measurement. Epidermal proliferation rates of facial skin were higher than those of unexposed sites; they may be 10 times higher in younger (second decade) than in older (seventh decade) individuals, and they decrease with age at rates 10 times faster compared with those of unexposed sites. Conclusions, This is the first time that epidermal proliferation and its dependence on ageing have been measured noninvasively on the human face. The higher tryptophan fluorescence values on the face vs. the protected site are indicative of accelerated rates of epidermal proliferation in the presence of chronic environmental insults. The repair potential of facial skin, i.e. its ability to maintain high proliferation rates, is maximal in younger populations and gradually decreases with age. [source] Generalized eruptive keratoacanthoma (Grzybowski variant)BRITISH JOURNAL OF DERMATOLOGY, Issue 4 2000J.E. Consigli We describe a patient with generalized eruptive keratoacanthoma (KA) of Grzybowski showing the characteristic features of this extremely rare condition. Since the first description by Grzybowski in 1950, only 28 additional cases (including the present one) have been reported. This variety of KA most commonly affects patients during the fifth to seventh decade of life and appears as a generalized eruption of hundreds to thousands of follicular papules. The small pruriginous papules often have a keratotic centre and show microscopic features of KA. Marked facial involvement is characteristic and can lead to masked facies with ectropion, as in our patient. The course of the disease is chronic and the response to therapy is poor. [source] Telangiectasia evaluated with adaptive optics and HR-OCTACTA OPHTHALMOLOGICA, Issue 2009K ATMANI Purpose Type 2 Macular Telangiectasia is a progressive disease starting in the fifth to seventh decade and characterized by a progressive damage of the neurosensory retina.. The purpose of this study is to compare the images obtained using two non-invasive techniques, High-Resolution Optical Coherence Tomography (HR-OCT) and Adaptive Optics (AO), in Type 2 Macular Telangiectasia. Methods Nine eyes of 5 patients affected by Type 2 Macular Telangiectasia underwent examination including visual acuity measurement with ETDRS (Early Treatment of Diabetic Retinopathy Study) chart, color photographs, monochromatic photographs, Spectral-Domain Optical Coherence Tomography with Heidelberg SpectralisÔ OCT and Adaptive Optics assessment with Imagine EyesÔ System. The neurosensory retina and the photoreceptor layer were analyzed using both HR-OCT and AO imaging. Results The disruptions of the photoreceptor layer on HR-OCT correspond to a cellular loss on Adaptive Optics Imaging. On the other hand, Adaptive optics Imaging allows the measurement of cellular density in areas which have a normal aspect on HR-OCT. Conclusion The diagnosis of Macular Telangiecctasia is based on biomicroscopy and fluorescein angiography. Adaptive Optics Imaging is helpful to analyze the retinal damages, especially the cone abnormalities. This technique will certainly allow a better understanding of this rare disease. Author Disclosure Information: K. Atmani, None; N. Leveziel, None G. Soubrane, None. [source] Primary and secondary small cell neuroendocrine carcinoma of the larynx: A reviewHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 4 2008Alfio Ferlito MD, DPath, FASCP, FDSRCS, FHKCORL, FRCPath, FRCSEd, FRCSGlasg, FRCSI Abstract Primary laryngeal small cell neuroendocrine carcinoma (SCNC) is an unusual malignancy accounting for <0.5% of laryngeal carcinomas. To date, approximately 200 cases of primary and 5 of secondary SCNC of the larynx have been reported. This tumor most often presents in the sixth and seventh decades in men who are heavy cigarette smokers. The lesion may be associated with different paraneoplastic syndromes (ectopic adrenocorticotropic hormone syndrome, Schwartz,Bartter syndrome or syndrome of inappropriate secretion of antidiuretic hormone, and Eaton,Lambert myasthenic syndrome) or with ectopic hormone production. The diagnosis is based essentially on the histologic appearance of the tumor, confirmed by immunocytochemical investigations. Concurrent chemoradiotherapy regimens offer potential for long-term survival. This tumor is biologically aggressive, and the extent of the disease is the most significant independent prognostic factor of survival. The survival rate is similar to that with pulmonary SCNC. © 2008 Wiley Periodicals, Inc. Head Neck, 2008 [source] | ||||||||||