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Sixth Decade (sixth + decade)
Selected AbstractsPrognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes,HUMAN MUTATION, Issue 5 2010Katherine V. Towns Abstract PRPF8 -retinitis pigmentosa is said to be severe but there has been no overview of phenotype across different mutations. We screened RP patients for PRPF8 mutations and identified three new missense mutations, including the first documented mutation outside exon 42 and the first de novo mutation. This brings the known RP-causing mutations in PRPF8 to nineteen. We then collated clinical data from new and published cases to determine an accurate prognosis for PRPF8 -RP. Clinical data for 75 PRPF8 -RP patients were compared, revealing that while the effect on peripheral retinal function is severe, patients generally retain good visual acuity in at least one eye until the fifth or sixth decade. We also noted that prognosis for PRPF8 -RP differs with different mutations, with p.H2309P or p.H2309R having a worse prognosis than p.R2310K. This correlates with the observed difference in growth defect severity in yeast lines carrying the equivalent mutations, though such correlation remains tentative given the limited number of mutations for which information is available. The yeast phenotype is caused by lack of mature spliceosomes in the nucleus, leading to reduced RNA splicing function. Correlation between yeast and human phenotypes suggests that splicing factor RP may also result from an underlying splicing deficit. © 2010 Wiley-Liss, Inc. [source] Role of influenza and other respiratory viruses in admissions of adults to Canadian hospitalsINFLUENZA AND OTHER RESPIRATORY VIRUSES, Issue 1 2008Dena L. Schanzer Objective, We sought to estimate age-specific hospitalization rates attributed to influenza and other virus for adults. Methods, Admissions from Canada's national hospitalization database (Canadian Institute of Health Information), from 1994/95 to 1999/2000, were modeled as a function of proxy variables for influenza, respiratory syncytial virus (RSV) and other viral activity, seasonality and trend using a Poisson regression model and stratified by age group. Results, The average annual influenza-attributed hospitalization rate for all adults, 20 years of age or older, over the study period, which included three severe seasons, was an estimated 65/100 000 population (95% CI 63,67). Among persons aged 65 and over, 270,340 admissions per 100 000 population per year were attributed to influenza, while 30,110, 60,90 and 130,350 per 100 000 were attributed to RSV, parainfluenza (PIV) and other respiratory viruses, respectively. Although marked season-to-season variation in age-specific hospitalization rates attributable to influenza was observed in persons 50 years of age and older, increasing risk with age was preserved at all time periods. Conclusions, Influenza, RSV, PIV and other respiratory viruses were all associated with morbidity requiring hospitalization, while influenza was responsible for peak respiratory admissions. The burden of health care utilization associated with respiratory viruses is appreciable beginning in the sixth decade and increases significantly with age. [source] The entity of young onset primary cervical dystoniaMOVEMENT DISORDERS, Issue 6 2007Vasiliki Koukouni MD Abstract Primary cervical dystonia is typically an adult onset condition with symptom onset usually in the fifth and sixth decade. Young onset (<28 years) is uncommon. We report 76 patients with cervical dystonia as a presenting or predominant feature, with disease onset before the age of 28. Male to female ratio was 1.24:1 and the mean onset age was 21 (3,28) years. A family history of tremor and/or dystonia was noted in 26.3%. Depression and anxiety attacks were present in 23.7%.Prior injury or surgery involving the neck was noted in 17.1%. 23 (30.3%) experienced spontaneous partial or complete remissions within the first 5 years of onset, but all relapsed. Cervical dystonia was predominantly rotational torticollis. 30% developed extra-nuchal dystonia and tremor affecting contiguous parts but in only one there was spread to affect the legs. All 15 patients tested for the DYT1 gene were negative. 74% responded favorably to botulinum toxin injections, whereas none of the 13 patients treated with L-Dopa preparations had a beneficial response. The distinctive features of this entity are discussed. © 2007 Movement Disorder Society [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] 1212: Herpes simplex and zoster keratitisACTA OPHTHALMOLOGICA, Issue 2010M LABETOULLE Herpes simplex virus (HSV) and varicella-zoster virus (VZV) are two leading causes of corneal infection with potential severely impaired visual acuity. These two viruses share multiple characteristics, including the ability to become latent in the trigeminal ganglia, before reactivation and migration along the trigeminal fibers innervating the cornea. The clinical settings of keratitis may vary from an epithelial defect (dendritic of geographic) to a more severe disease involving the stroma and/or the endothelium. Classically, HSV keratitis occurs from the second decade of life, and associated skin disease is not frequent and only involves the eyelids. In contrast, VZV keratitis mostly occurs after the sixth decade, as an associated finding of herpes zoster ophthalmicus (HZO). However, several studies recently highlighted that the rate of HSV keratitis increases with age, even in elderly, and some other studies reported VZV keratitis in children, either isolated or associated with HZO. Antiviral drugs currently available are highly efficient to reduce the severity on ongoing HSV- or VZV keratitis, but preventive treatments still have to be optimized. For HSV keratitis, the usual preventive treatment, as defined by the HEDS study, only reduces the rate of relapses in a two-fold manner, and the optimal dosage has not been settled for patient with severe herpetic disease. For VZV, the two vaccines against chickenpox and HZO probably will lead in the future to a reduction of the incidence of keratitis, but they are not widely used, even in most of developed countries. [source] Paediatric intraoral mucoepidermoid carcinoma mimicking a bone lesionINTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 2 2007PAULO MORAES Background., Mucoepidermoid carcinoma of the salivary glands occurs most frequently in adults during the fifth and sixth decades of life. Although uncommon, it is the main malignant salivary gland tumour in children, particularly adolescents. Case report., A 14-year-old girl presented with a mass in her palate that had had a duration of one year. On panoramic X-ray, a well-delimited radiolucent area was observed on the left maxillary sinus region. The initial clinical diagnostic hypothesis was that this was a central giant cell granuloma. An incisional biopsy was performed and the final microscopic diagnosis was mucoepidermoid carcinoma. The tumour was removed by a wide transoral resection and the patient has been asymptomatic for 4 years. Conclusion., Mucoepidermoid carcinoma in paediatric patients is uncommon, but it must be considered in differential diagnoses of intraoral submucosal mass/nodules in children, particularly in the palate. [source] The ectomesenchymal chondromyxoid tumor: a reviewORAL DISEASES, Issue 5 2008CM Allen The ectomesenchymal chondromyxoid tumor is a relatively recently described neoplasm that appears to involve uniquely the oral cavity, particularly the tongue. Thirty well-accepted cases have been reported since the initial description of this lesion in 1995. While a wide age range (9,78 years) has been documented, most of these tumors are diagnosed from the third to sixth decades of life. No sex predilection is seen. The size of the neoplasm is typically <2 cm, and most affect the anterior dorsal tongue. The duration of the lesion was difficult to gauge, probably due to the asymptomatic nature of the process. Some tumors, however, were well documented to have been present for as long as 10,20 years. Histopathologically, the ectomesenchymal chondromyxoid tumor is characterized by a well circumscribed, but unencapsulated, lobular growth pattern. Varying degrees of cellularity are noted, with the lesional cells often set in a myxoid, chondroid or hyalinized background. Immunohistochemical studies reveal positivity of the lesional cells for antibodies directed against glial fibrillary acidic protein, cytokeratins, S-100 protein and CD-57 in the majority of tumors. Treatment consists of conservative surgical excision, and while recurrence is possible, it has been noted in <10% of reported cases. [source] | ||||||||||