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Fourth Decade (fourth + decade)
Selected AbstractsA comparative analysis of core needle biopsy and fine-needle aspiration cytology in the evaluation of palpable and mammographically detected suspicious breast lesionsDIAGNOSTIC CYTOPATHOLOGY, Issue 11 2007Shailja Garg M.B.B.S. Abstract The present study was undertaken to compare the efficacy of needle core biopsy (NCB) of the breast with fine-needle aspiration cytology (FNAC) in breast lesions (palpable and non-palpable) in the Indian set-up, along with the assessment of tumor grading with both the techniques. Fifty patients with suspicious breast lesions were subjected to simultaneous FNAC and ultrasound-guided NCB following an initial mammographic evaluation. Cases were categorized into benign, benign with atypia, suspicious and malignant groups. In cases of infiltrating duct carcinomas, grading was performed on cytological smears as well as on NCB specimens. Both the techniques were compared, and findings were correlated with radiological and excision findings. Out of 50 cases, 18 were found to be benign and 32 malignant on final pathological diagnosis. Maximum number of patients with benign diagnosis was in the fourth decade (42.11%) and malignant diagnosis in the fourth as well as fifth decade (35.48% each). Sensitivity and specificity of mammography for the diagnosis of malignancy was 84.37% and 83.33%, respectively. Sensitivity and specificity of FNAC for malignant diagnosis was 78.15% and 94.44%, respectively, and of NCB was 96.5% and 100%, respectively. But NCB had a slightly higher specimen inadequacy rate (8%). NCB improved diagnostic categorization over FNAC by 18%. Tumor grading in cases of IDC showed high concordance rate between NCB and subsequent excision biopsy (94.44%) but low concordance rate between NCB and FNAC (59.1%). NCB is superior to FNAC in the diagnosis of breast lesions in terms of sensitivity, specificity, correct histological categorization of the lesions as well as tumor grading. Diagn. Cytopathol. 2007;35:681,689. © 2007 Wiley-Liss, Inc. [source] Pure quadriceps myopathy in two sistersEUROPEAN JOURNAL OF NEUROLOGY, Issue 4 2003I. Mahjneh The authors carried out a clinical, laboratory and muscle computed tomographgy CT follow-up study of 18,21 years on two sisters affected by quadriceps myopathy (QM). The onset in the fourth decade was a weakness in the thighs. During the follow-up study, the patients showed only vasti muscles involvement, normal creatine kinase (CK) levels, myopathic muscle biopsy and electromyography (EMG) and normal membrane protein expression on immunocytochemical analysis. Therefore, all muscle pathologies known to have quadriceps involvement as a leading feature have been ruled out. We conclude that our patients have pure QM with probable autosomal recessive inheritance. [source] Into our fourth decade of prevention via parenting education: where we have been , where we are goingINTERNATIONAL JOURNAL OF APPLIED PSYCHOANALYTIC STUDIES, Issue 1 2006Henri Parens First page of article [source] Progressive depletion of complexin II in a transgenic mouse model of Huntington's diseaseJOURNAL OF NEUROCHEMISTRY, Issue 1 2001A. J. Morton Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor, emotional and cognitive dysfunction. There is no treatment or cure for this disease, and after the onset of symptoms, usually in the fourth decade of life, there is an inexorable decline to death. In many patients there is a complex deterioration of function before the onset of neuronal loss and, at least in mouse models, abnormalities in neurotransmission represent early events in the development of the disease. Here we describe the specific and progressive loss of complexin II from the brains of mice carrying the HD mutation (R6/2 line), and the later appearance of this protein in a subpopulation of neuronal intranuclear inclusions. Although the precise role of complexin II is still unclear, it is known to bind to the SNARE complex, and is therefore likely to be involved in the control of exocytosis. Our results suggest that changes in neurotransmitter release might contribute to the neuronal dysfunction seen in these mice. [source] Assessing OSHA Performance: New Evidence from the Construction IndustryJOURNAL OF POLICY ANALYSIS AND MANAGEMENT, Issue 4 2001David Weil The determinants of OSHA performance can be examined by breaking the regulatory process into three elements relating to enforcement, compliance behavior, and the adequacy of standards in addressing safety outcomes. This paper develops and applies this framework to the U.S. construction industry during the period 1987 to 1993. Enforcement activity among the firms in the sample was substantial, with firms facing a high probability of annual inspection. But, despite this significant enforcement effort, inspections have a modest effect on firm compliance with OSHA standards. Finally, the health and safety standards cited most frequently diverge from the major sources of fatalities and injuries on construction projects. These results suggest that historic enforcement policies toward construction make less sense as OSHA moves into its fourth decade of operation. More generally, the paper illustrates the problem of focusing enforcement resources on large, high‐profile companies even though they often are not the major source of regulatory problems in an established area of public policy intervention. © 2001 by the Association for Public Policy Analysis and Management. [source] Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia,MOVEMENT DISORDERS, Issue 9 2010Alessandro Brussino MD Abstract SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of ,51 CAGs in the 5, region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene. SCA12 is very rare, except for a single ethnic group in India. We screened 159 Italian ataxic patients for SCA12 and identified two families that segregated an expanded allele of 57 to 58 CAGs, sharing a common haplotype. The age at onset, phenotype, and variability of symptoms were compatible with known cases. In one family, the disease was apparently sporadic due to possible incomplete penetrance and/or late age at onset. Our data indicate that SCA12 is also present in Italian patients, and its genetic testing should be applied to both sporadic and familial ataxias. © 2010 Movement Disorder Society [source] Behçet Disease in a Child,Emphasis on Cutaneous ManifestationsPEDIATRIC DERMATOLOGY, Issue 5 2007Vânia Oliveira de Carvalho M.D. Recurrent episodes of oral and genital ulcerations, skin lesions, and ocular manifestations are seen. The disease may also involve the central nervous system, gastrointestinal tract and, less frequently, the large vessels. In general, manifestations occur in the third or fourth decade of life and are not common in children. Therefore few data concerning this age group have been found in the literature. In this study we report a child with Behçet disease beginning at 1 year of age whose cutaneous manifestations were exuberant acne-like and folliculitis-like lesions, which were crucial for diagnostic confirmation. [source] Gynaecomastia: an endocrine manifestation of testicular cancerANDROLOGIA, Issue 3 2008H. C. Hassan Summary Testicular cancer is the most common malignancy affecting young men in their third or fourth decade with an incidence of three to six new cases per 100 000 males each year. When diagnosed and treated in its early stages, it has an excellent cure rate. 7,11% of patients with testicular cancer present initially with gynaecomastia. This may precede the presence of a palpable testicular tumour or hormonal abnormalities. This article evaluates the association between gynaecomastia and testicular cancer and recommends appropriate management for patients presenting with gynaecomastia. [source] Four novel mutations in the Tyrosine Hydroxylase gene in patients with infantile parkinsonismANNALS OF HUMAN GENETICS, Issue 1 2000R. J. M. SWAANS Mutation detection in the Tyrosine Hydroxylase gene (TH) was performed in patients from two families. DNA sequencing revealed the presence of four novel missense mutations (exon 9 and 14 in family A, exon 8 and 9 in family B); the mutations were confirmed with restriction enzyme analysis, and did not occur in control alleles. Three mutations are in the catalytic domain of the enzyme and one may disturb tetramerization. At the moment, all patients are in the fourth decade of life. For more than 30 years they have been able to live a normal life with low-dose l -DOPA medication. [source] McLeod neuroacanthocytosis: Genotype and phenotype,ANNALS OF NEUROLOGY, Issue 6 2001Adrian Danek MD McLeod syndrome is caused by mutations of XK, an X-chromosomal gene of unknown function. Originally defined as a peculiar Kell blood group variant, the disease affects multiple organs, including the nervous system, but is certainly underdiagnosed. We analyzed the mutations and clinical findings of 22 affected men, aged 27 to 72 years. Fifteen different XK mutations were found, nine of which were novel, including the one of the eponymous case McLeod. Their common result is predicted absence or truncation of the XK protein. All patients showed elevated levels of muscle creatine phosphokinase, but clinical myopathy was less common. A peripheral neuropathy with areflexia was found in all but 2 patients. The central nervous system was affected in 15 patients, as obvious from the occurrence of seizures, cognitive impairment, psychopathology, and choreatic movements. Neuroimaging emphasized the particular involvement of the basal ganglia, which was also detected in 1 asymptomatic young patient. Most features develop with age, mainly after the fourth decade. The resemblance of McLeod syndrome with Huntington's disease and with autosomal recessive chorea-acanthocytosis suggests that the corresponding proteins,XK, huntingtin, and chorein,might belong to a common pathway, the dysfunction of which causes degeneration of the basal ganglia. [source] Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood diseaseANNALS OF NEUROLOGY, Issue 2 2001Otto P. Van Diggelen PhD The fluorogenic enzyme assay for palmitoyl-protein thioesterase (PPT) has greatly facilitated the diagnosis of infantile neuronal ceroid lipofuscinosis (Santavuori-Haltia disease) and the search for possible new variants with atypical clinical presentation. Here, we present the first cases of adult neuronal ceroid lipofuscinosis with onset in the fourth decade of life due to a profound deficiency of PPT. The causative mutations in the CLN1 gene were the known, deleterious mutation R151X and the novel missense mutation G108R. Patients presented at onset (31 and 38 years), with psychiatric symptoms only. At present (ages 56 and 54 years), visual, verbal, and cognitive losses have progressed and both patients have cerebellar ataxia and cannot walk without support. [source] Constitutive deficiency in DNA mismatch repairCLINICAL GENETICS, Issue 6 2007KEA Felton Mutations in the DNA mismatch repair (MMR) genes are associated with the inheritance of hereditary non-polyposis colorectal cancer, also known as Lynch syndrome, a cancer syndrome with an average age at onset of 44. Individuals presenting with colorectal cancer are diagnosed with Lynch I, whereas individuals who present with extra-colonic tumors (such as endometrial, stomach, etc.) are identified as patients with Lynch syndrome II. Recently, 30 families have been reported with inheritance of biallelic mutations in the MMR genes. Here we summarize the phenotype of individuals with inheritance of homozygous or compound heterozygous mutations in the MMR genes that result in a complete lack of protein or greatly compromised protein function. In contrast to individuals with Lynch syndrome I and II, individuals with no MMR function present with childhood onset of hematological and brain malignancies, whereas residual MMR function can also result in gastrointestinal cancers and an age of onset in the second to fourth decade. Individuals with biallelic MMR mutations often present with café-au-lait spots, regardless of the level of MMR function remaining. Thus, the inheritance of two MMR gene mutations is a separate entity from Lynch I or II or the subtypes Turcot and Muir,Torre. [source] A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 geneEUROPEAN JOURNAL OF NEUROLOGY, Issue 7 2007E. Matsubara A unique sib pair afflicted by limb girdle muscular dystrophy type 2A (LGMD2A) is described showing a slowly progressive autosomal recessive type of muscular dystrophy with onset in the third and fourth decades. The patients had early asymmetric muscle involvement characterized by prominent biceps brachii atrophy with sparing of the knee extensors. Additional findings included elevation of serum creatine kinase level, myopathic EMG changes and dystrophic type of pathology on muscle biopsy. Asymmetrical wasting of muscles in the extremities exhibited uniform and highly selective CT imaging patterns. RNA and DNA analyses confirmed novel compound heterozygous mutations (R147X/L212F) in the human CAPN3 gene. [source] Comparison of dentine hypersensitivity in selected occidental and oriental populationsJOURNAL OF ORAL REHABILITATION, Issue 1 2001D. G. Gillam Epidemiological data on dentine hypersensitivity (DH) prevalence are limited. Few studies have compared prevalence between populations. The aim of this investigation, therefore, was to compare the perception and prevalence of DH in two distinct non-periodontal practice populations, one U.K. and one Korean. Completed questionnaires from 557 patients (230 males and 327 females, comprising 115 males and 162 females, mean age 41·7 years (s.d.=14·36), U.K. and 115 males and 165 females, mean age 29·7 years (s.d.=11·86), Korean) were collected. Analysis was by frequency distribution and cross-tabulation (Statistical Package for the Social Sciences (SPSS)). DH prevalence was similar and at levels comparable with those reported previously. Prevalence was higher in the third and fourth decades in both populations. Although there were no differences between U.K. or Korean males and U.K. or Korean females, there was a significant difference between gender reporting of DH, with more females complaining of DH than males (standard normal deviation (SND)=4·3, 95% confidence interval (CI)=0·1134,0·2736). DH appeared to be regarded by patients as not severe in most cases, so treatment was not generally sought. Of those who claimed to have sought treatment, a significant number had received restorative treatment. Of those patients, only 23·3% of U.K. and ,2% of Korean patients claimed to have used a desensitizing dentifrice. Pain from DH was reported as low grade (slight, occasional) occurring over 5 years in both populations. Cold appeared to be the most reported stimulus in the two populations. Less periodontal surgery had been undertaken in these two populations (12·6% U.K. and 7·1% Korean) compared with those referred to a teaching hospital periodontal department (34·5%). This compared favourably with previous findings in the general dental population (15·5%). Discomfort following hygiene therapy did not appear to last ,7 days in either population. The results indicated that there were no significant differences between U.K.- and Korean-based populations in their perception of DH, with the exception that more females complained of sensitivity than males in both groups. Overall, DH was not considered a major dental problem by most patients in either of the populations. [source] 4151: Epidemiology of uveitis in the Middle East and North AfricaACTA OPHTHALMOLOGICA, Issue 2010M KHAIRALLAH Purpose Numerous studies have examined the pattern of uveitis around the world. Most of them are from western countries, including the USA and countries in Europe, and Eastern Asia. The aim of this presentation is to review the epidemiological characteristics of uveitis in the the Middle East and North Africa. Methods The epidemiologic data on uveitis available from the Middle East and North Africa were reviewed. Results Several recent studies addressed the pattern of uveitis in different countries, including Iran, Saudi Arabia, Turkey, and Tunisia. Uveitis was most often seen in adults with a peak age at presentation in the third and fourth decades. There was no dramatic difference in gender distribution. Anterior uveitis was the most common anatomic form of uveitis, but a high rate of posterior uveitis and panuveitis was reported. A definitive or presumed specific diagnosis could be established for 57-87% of patients. The most common infectious entities were herpetic anterior uveitis, toxoplasmosis, and tuberculosis (Saudi Arabia). The most common identifiable non-infectious entities included Behçet's disease and Vogt-Koyanagi-Harada disease. Conclusion Herpetic infection, toxoplasmosis, and tuberculosis are the most common infectious causes of uveitis in the Middle East and North Africa. Behçet's diease and Vogt-Koyanagi-Harada disease are the most common non-infectious uveitic entities.HLA-B27 acute anterior uveitis, ocular sarcoidosis, and juvenile idiopathic arthritis associated uveitis are less common than in western countries. [source] Constitutive deficiency in DNA mismatch repair: is it time for Lynch III?CLINICAL GENETICS, Issue 6 2007KEA Felton Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome types I and II, and the related subtypes Turcot and Muir,Torre syndrome, have all been associated with inheritance of germ line mutations in the DNA mismatch repair (MMR) genes. Fifty individuals have recently been identified with an early onset of a different spectrum of cancers associated with inheritance of two MMR mutations , resulting either in a constitutive loss of MMR function, or greatly impaired MMR function. In contrast to Lynch I and II individuals, individuals with inheritance of homozygous or compound heterozygous mutations in the MMR genes that result in a complete lack of protein, present with hematological and brain malignancies in the first decade of life. Biallelic mutations with compromised but residual protein function present with a broader spectrum of cancers (brain, hematological or gastrointestinal) in the second to fourth decades of life. We propose that inheritance of two MMR mutations in an individual and the unique tumor spectrum that occurs with an early onset should be defined separately from Lynch syndrome I and II, or the subtypes Turcot and Muir,Torre. We suggest Lynch III as an appropriate name for identifying individuals with constitutively compromised MMR associated with biallelic mutations. [source] | |||||||||||||