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Selected AbstractsStiff Limb Syndrome: End of Spectrum or A Separate Entity?PAIN MEDICINE, Issue 3 2009Usha K. Misra DM ABSTRACT Background., Stiff-person syndrome is a rare disorder characterized by rigidity of axial or limb muscles with episodes of co-contraction of agonist and antagonist muscles during the spasms. In some patients axial or limb involvement may predominate and may have unusual manifestations. Design., Case report. Setting., Tertiary care teaching hospital. Patient., A 42-year-old farmer presented with seasonal occurrence of hiccup and vomiting during summer months for the last 3 years. He had painful lower limb spasms lasting for 2,3 minutes every 10,15 minutes for the past 20 days. His neurological examination was normal, erythrocyte sedimentation rate (ESR) was 50 mm at 1st hour, and cerebrospinal fluid protein 78 mg/dL without pleocytosis. Radiograph of chest, abdominal ultrasound, and craniospinal magnetic resonance imaging were normal. The patient improved on diazepam. Conclusion., Our patient is a forme fruste of stiff person syndrome with hiccups and vomiting due to diaphragmatic spasm. [source] Philopatry and Homing Behavior of Sea Snakes (Laticauda colubrina) from Two Adjacent Islands in FijiCONSERVATION BIOLOGY, Issue 5 2002Sohan Shetty Even in highly vagile species, local populations may comprise ecologically separate entities if most animals display strong and consistent site attachment. We conducted a mark-recapture study on yellow-lipped sea kraits ( Laticauda colubrina) on two small Fijian islands separated by 5.3 km. These snakes forage over many kilometers in the ocean, but return to land to reproduce, slough, and digest their food. Recovery of marked snakes showed that the populations on these two islands were essentially separate. Relocated snakes returned "home" almost immediately after they were released. Growth rates and mean adult body sizes of male sea snakes also differed between the two islands. This high site fidelity means that activities such as resort development or commercial harvesting for the skin trade are likely to have intense localized effects rather than diffuse broad-scale effects on sea snake populations. Our results also call into question the feasibility of plans to reintroduce snake populations to areas where a species has been eliminated by overexploitation. Resumen: La escala espacial a la que las perturbaciones antropogénicas afectan a una población de animales depende del grado de filopatría y de la búsqueda del hogar de individuos dentro de esta población. Aún en especies altamente móviles, las poblaciones locales pueden contener entidades ecológicamente separadas si la mayoría de los animales presentan un apego fuerte y consistente por un sitio. Llevamos a cabo un estudio de marcado-recaptura en las serpientes marinas de labios amarillos ( Laticauda colubrina) de dos islas pequeñas de Fiji, separadas por 5.3 km. Estas serpientes forrajean a lo largo de muchos kilómetros en el océano, pero regresan a tierra a reproducirse, mudar de piel y digerir su comida. La recuperación de serpientes mostró que las poblaciones en estas dos islas estaban substancialmente separadas. Las serpientes reubicadas regresaron a "casa" casi inmediatamente después de haber sido liberadas. Las tasas de crecimiento y el tamaño promedio de machos también difirieron entre las dos islas. Esta alta fidelidad al sitio significa que las actividades tales como el desarrollo de un centro turístico o de la cosecha comercial para el comercio de la piel son probablemente factores que tendrán efectos localizados en lugar de efectos difusos de amplia escala sobre las poblaciones de serpientes marinas. Nuestros resultados también cuestionan la viabilidad de planes para reintroducir poblaciones de serpientes en áreas donde una especie ha sido eliminada por sobreexplotación. [source] Comprehensive elements of a physiotherapy exercise programme in haemophilia , a global perspectiveHAEMOPHILIA, Issue 2010G. BLAMEY Summary., Exercise programmes for people with haemophilia are usually designed and implemented to help manage the recovery after a haemarthrosis or a muscle bleed, or as a tool to help prevent bleeding episodes from occurring. In this article, we have identified individual components of exercise that are often applied as separate entities, but may also need to be implemented in concert for optimized impact. Although it may be necessary on occasion to bias an exercise programme towards one component over the others, it is important to recognize that the various elements of exercise are not mutually exclusive. Decreased flexibility, strength and proprioception, will result in an impairment of balance and a loss of function. Programme design should whenever possible be guided by proven methodology in terms of how each component is incorporated, and more specifically how long to perform the exercise for and how many repetitions should be performed. We recognize, however, that this is not always possible and that there is significant value in drawing from the experience of clinicians with specialized training in the management of haemophilia. In this study, both perspectives are presented, providing reference-based reviews of the mechanics of the various elements of exercise as well as the expert opinions of the authors. Research that has been completed using patients with conditions other than haemophilia may or may not have a direct application with the bleeding disorders population, but the programme design based on principles of tissue healing in addition to disease specific knowledge should be encouraged. [source] Bullying and victimisation in Scottish secondary schools: Same or separate entities?AGGRESSIVE BEHAVIOR, Issue 1 2002A. Karatzias Abstract Previous research has suggested that bullying is an increasingly severe problem in schools. Such research has approached the phenomenon from two different angles. Earlier research has treated bullying and victimisation as separate entities. However, current research suggests that bullies and victims engage in a special dynamic and interactive relationship, thereby providing the need for studying any similarities and differences between bullies and victims in relation to various factors. The present research has approached bullying and victimisation in both ways. First, we studied differences between bullies, victims, and those not involved in relation to various demographic, school, well-being, and personality factors to identify factors that separate these three groups. In addition, we studied differences between those involved in bullying/victimisation (one group) and those never involved in relation to the same aforementioned factors to highlight aspects of the development of their special relationship (i.e., common factors). Prevalence rates and types of bullying/victimisation experienced/expressed in Scottish schools were also investigated. It was found that bullying and victimisation, when treated as separate entities, differed in relation to peer self-esteem, with bullies reporting higher levels of peer self-esteem than victims. When bullies and victims were treated as one group (involved), they were found to differ from the noninvolved group in relation to various factors, including school, well-being, and personality factors. The involved group was found to be disadvantaged in relation to all measures used. However, overall results indicated that from all these factors the best predictors of overall involvement as bully, victim, or bully-victim were Quality of School Life and school stress. The present results support the notion that bullying and victimisation could be treated, by future research, as both separate and/or interactive entities. This is so because bullying and victimisation were found to differ in relation to one personality factor, that is, peer self-esteem. However, Quality of School Life and school stress, both school factors, were found to be associated with the phenomenon as a whole. Results are discussed in relation to future development of antibullying policy in Scottish schools.Aggr. Behav. 28:45,61, 2002. © 2002 Wiley-Liss, Inc. [source] Differential strength of sex-biased hybrid inferiority in impeding gene flow may be a cause of Haldane's ruleJOURNAL OF EVOLUTIONARY BIOLOGY, Issue 2 2003Ren-Xue Wang Abstract In animals, if one sex of the F1 hybrid between two species is sterile or inviable, it is usually the heterogametic (XY or WZ) sex. This phenomenon, known as Haldane's rule, is currently thought to be coincidentally caused by different mechanisms in separate entities. The following questions have never been asked: Are heterogametic and homogametic inferiority (sterility or inviability) equivalent as isolating mechanisms? Could discrepancies between them, if existing, produce Haldane's rule? Here I consider sex-biased hybrid inferiority strictly as an isolating mechanism, and quantitatively evaluate its strength in impeding gene flow. The comparison reveals that the ability of sex-biased inferiority to impede gene flow varies according to the sex and chromosome involved. Heterogametic inferiority is a weaker barrier when unidirectional and a much stronger one when in compound reciprocal directions, compared with homogametic inferiority. Such differential strength may affect divergence in speciation and produce Haldane's rule. [source] Histopathological and immunohistochemical analysis of calcifying odontogenic cystsJOURNAL OF ORAL PATHOLOGY & MEDICINE, Issue 10 2001Mitsuhide Yoshida Abstract: Method and Results: Calcifying odontogenic cysts (COCs) were examined histopathologically and immunohistochemically to characterize the histological and cytological properties of these lesions. Histopathologically, COCs showed thin or thick lining epithelium with ghost cells. COCs were classified according to proliferative type or nonproliferative type lining epithelium, the presence or absence of ameloblastomatous appearance, and the presence or absence of odontoma in the cyst walls. Immunohistochemically, amelogenin protein was expressed chiefly in ghost cells, whereas cytokeratin 19 (CK19) and bcl-2 proteins were expressed chiefly in lining epithelial cells. The proportion of cases positive for bcl-2 protein was slightly higher in COCs with odontoma than in those without odontoma. Lining epithelial cells sporadically showed positive reactions for Ki-67 antigen. Mean Ki-67 labeling index was slightly greater in COCs with proliferative type lining epithelium, COCs with ameloblastomatous appearance of the cyst walls, and COCs with odontoma of the cyst walls than in COCs without these histological features. Our results suggest that ghost cells or lining epithelial cells show ameloblastic cytodifferentiation or odontogenic epithelial characteristics, that bcl-2 protein is associated with survival of lining epithelial cells in COCs, and that high proliferation potential is associated with ameloblastomatous proliferation or combined odontoma. COCs exhibited various histological features with several transitional forms, and immunohistochemical examinations revealed little or no difference in cytodifferentiation and cellular activity among COCs. Conclusion: We conclude that COCs with various histological features have neoplastic potential and may not be separate entities within the same histological spectrum. [source] Organizational identification versus organizational commitment: self-definition, social exchange, and job attitudesJOURNAL OF ORGANIZATIONAL BEHAVIOR, Issue 5 2006Daan van Knippenberg The psychological relationship between individual and organization has been conceptualized both in terms of identification and in terms of (affective) commitment. In the present study, we explore the differences between these two conceptualizations. Building on the proposition that identification is different from commitment in that identification reflects the self-definitional aspect of organizational membership whereas commitment does not, we propose that commitment is more contingent on social exchange processes that presume that individual and organization are separate entities psychologically, and more closely aligned with (other) job attitudes. In support of these propositions, results of a cross-sectional survey of university faculty (n=133) showed that identification is uniquely aligned (i.e., controlling for affective commitment) with the self-referential aspect of organizational membership, whereas commitment is uniquely related (i.e., controlling for identification) to perceived organizational support, job satisfaction, and turnover intentions. We conclude that the core difference between identification and commitment lies in the implied relationship between individual and organization: Identification reflects psychological oneness, commitment reflects a relationship between separate psychological entities. Copyright © 2006 John Wiley & Sons, Ltd. [source] An overview of structuration theory and its usefulness for nursing researchNURSING PHILOSOPHY, Issue 4 2005Mary-Ann R. Hardcastle RN BA DipEd MPHTM PhD Abstract, Anthony Giddens' theory of structuration is a theory of social action, which claims that society should be understood in terms of action and structure; a duality rather than two separate entities. This paper introduces some of the central characteristics of structuration theory, presenting a conceptual framework that helps to explore how people produce the systems and structures that shape their practice. By understanding how people produce and reproduce structures, then there is the potential for changing them. Criticisms that have been raised about the theory are introduced, followed by examples of how the theory might be useful to nursing research. Structuration theory can be employed to explore how nurses produce, reproduce, and transform nursing practice through social interaction across time and space. [source] Thermalization and recombination in exponential band tail statesPHYSICA STATUS SOLIDI (C) - CURRENT TOPICS IN SOLID STATE PHYSICS, Issue 6 2006M. Niehus Abstract We present an analytical model that combines the complementary experimental evidence of spatial dispersion (DAP recombination) and energetic dispersion (band tails). The model describes the competition between thermalization and recombination of excess carriers trapped in exponentially distributed (in energy), discrete localized (in space) states. We use the energy dependence of the relaxation rates to derive the energy and time dependence of sub gap photoluminescence. The model predicts that the yellow luminescence band (YLB) and blue luminescence band (BLB) commonly observed in GaN are not separate entities, but reflect the competition of thermalization and recombination. A distinct kink is observed in transient PL in the microsecond range, in the limiting cases of strong tailing and/or low temperatures, indicating the transition from thermalization-limited to (radiative) recombination-limited excess carrier relaxation. Both prediction are in line with experiment, and able to resolve interpretational difficulties. (© 2006 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim) [source] The expression of Bcl-2 family proteins differs between nonsmall cell lung carcinoma subtypesCANCER, Issue 7 2005Helen K. Berrieman Ph.D. Abstract BACKGROUND Proteins of the Bcl-2 family play a key role in the control of apoptosis and carry out both proapoptotic and antiapoptotic functions. However, with the exception of Bcl-2 itself, little is known about the expression of these potentially critical proteins in nonsmall cell lung carcinoma. METHODS Immunohistochemistry was used to study the expression of Bcl-2 and 6 other Bcl-2 family proteins in a pilot series of 41 archival nonsmall cell lung carcinoma specimens (19 adenocarcinomas and 22 squamous cell carcinomas). RESULTS Overexpression of the apoptosis inhibitors Bcl-2 and Bcl-XL was observed in 10 of 41 samples (24%) and in 11 of 41 samples (27%), respectively. Loss of expression of proapoptotic proteins was observed as follows: Bak, 24 of 41 samples (59%); Bad, 21 of 41 samples (51%); Bid, 20 of 41 samples (49%); Bax, 14 of 41 samples (34%); and Bim/Bod, 2 of 41 samples (5%). Statistically significant differences in expression between adenocarcinoma samples and squamous cell carcinoma samples were observed for Bcl-XL (overexpression in 11 of 19 adenocarcinomas [58%] vs. 0 of 22 squamous cell carcinomas [0%]; P < 0.001) and for Bad (loss of expression in 5 of 19 adenocarcinomas [26%] vs. 16 of 22 squamous cell carcinomas [73%]; P = 0.004). CONCLUSIONS Although this was only a pilot study, the results revealed significant differences in the expression of apoptosis-related proteins both between individual samples of nonsmall cell lung carcinoma and between the two main histologic subtypes. Such differences may play a role in the development of lung tumors; and, if it is found that these differences are of clinical importance, then it may be required to regard nonsmall cell lung carcinoma subtypes as separate entities rather than as one disease. Cancer 2005. © 2005 American Cancer Society. [source] Oro-facial granulomatosis: Crohn's disease or a new inflammatory bowel disease?INFLAMMATORY BOWEL DISEASES, Issue 9 2005FRCP, Jeremy Sanderson MD Abstract Background: Oro-facial granulomatosis (OFG) is a rare chronic inflammatory disorder presenting characteristically with lip swelling but also affecting gingivae, buccal mucosa, floor of mouth, and a number of other sites in the oral cavity. Histologically, OFG resembles Crohn's disease (CD), and a number of patients with CD have oral involvement identical to OFG. However, the exact relationship between OFG and CD remains unknown. Methods: Thirty-five patients with OFG and no gut symptoms were identified from a combined oral medicine/gastroenterology clinic. All underwent a standardized assessment of the oral cavity and oral mucosal biopsy to characterize the number of sites affected and the type of inflammation involved. Hematological and biochemical parameters were also recorded. All 35 patients underwent ileocolonoscopy and biopsy to assess the presence of coexistent intestinal inflammation. Results: Ileal or colonic abnormalities were detected in 19/35 (54%) cases. From gut biopsies, granulomas were present in 13/19 cases (64%). An intestinal abnormality was significantly more likely if the age of OFG onset was less than 30 years (P = 0.01). Those with more severe oral inflammation were also more likely to have intestinal inflammation (P = 0.025), and there was also a correlation between the histologic severity of oral inflammation and the histologic severity of gut inflammation (P = 0.047). No relationship was found between any blood parameter and intestinal involvement. Conclusions: Endoscopic and histologic intestinal abnormalities are common in patients with OFG with no gastrointestinal symptoms. Younger patients with OFG are more likely to have concomitant intestinal involvement. In these patients, granulomas are more frequent in endoscopic biopsies than reported in patients with documented CD. OFG with associated intestinal inflammation may represent a separate entity in which granulomatous inflammation occurs throughout the gastrointestinal tract in response to an unknown antigen or antigens. [source] Parapsoriasis lichenoides/Parapsoriasis variegata , a new conceptJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, Issue 11 2009Ingrid H. Wolf Summary We present a new concept on the nosology of parapsoriasis lichenoides (= parakeratosis variegata) and show that this parapsoriasis type is not a separate entity. It represents different diseases: a large number of cases presenting as reticular parapsoriasis are mycosis fungoides, another group represents reticular variants of the parapsoriasis guttata group (pityriasis lichenoides acuta et chronica). Further, cases exist that can be classified as lichen planus reticularis or other diseases (e. g. keratosis lichenoides). [source] Effect of DOV 102,677 on the Volitional Consumption of Ethanol by Myers' High Ethanol-Preferring RatALCOHOLISM, Issue 11 2007Brian A. McMillen Background:, Inhibitors of monoamine neurotransmitter transporters are well established as antidepressants. However, the evidence that single (serotonin) or dual (serotonin,norepinephrine) neurotransmitter uptake inhibitors can treat ethanol abuse, either as a comorbidity with depression or as a separate entity, is inconsistent. Drugs that have, in addition, the ability to inhibit dopamine uptake may have an advantage in the treatment of alcohol abuse. Therefore, the inhibitor of norepinephrine, serotonin and dopamine uptake, DOV 102,677, was tested for its effects on the volitional consumption of ethanol by an ethanol-preferring rat strain. Methods:, Myers' high ethanol-preferring rats were screened by a 10-day, 3 to 30% step-up test and then given free access to the preferred concentration of ethanol in a 3-bottle choice task. Consumption of ethanol (g/kg), water, food, and body weight were measured daily during a 3-day predrug treatment period, a 3-day treatment period, and a 3-day posttreatment period. Additional Sprague,Dawley rats were observed for 24 hours for the behavioral effects of 2.0 mg/kg s.c. reserpine after a 30-minute pretreatment with different doses of DOV 102,677. Results:, The triple monoamine uptake inhibitor DOV 102,677 dose-dependently decreased the volitional consumption of ethanol by as much as 71.2% (20 mg/kg i.p., b.i.d.) over 3 days of administration. This effect carried over into the posttreatment period. Similarly, the proportion of ethanol to total fluids consumed declined by 66.2% (20 mg/kg s.c., b.i.d.), while food consumption and body weight were unaltered. In contrast, amperozide (2 mg/kg i.p., b.i.d.) suppressed the amount of ethanol consumed by 56%, while naltrexone (5 mg/kg i.p., b.i.d.) was without effect. DOV 102,677 (40 mg/kg s.c.) inhibited reserpine-induced akinesia and ptosis, but not hypothermia in Sprague,Dawley rats, consistent with its transient inhibition of serotonin transport, and more long-lived inhibition of norepinephrine and dopamine uptake. Conclusions:, DOV 102,677 significantly decreased the volitional consumption of ethanol with minimal alterations in the intake of food or on body weight in an ethanol-preferring rat strain, suggesting that triple reuptake inhibitors may find utility in treating alcohol abuse. [source] Heart failure from diastolic dysfunction related to hypertension: Guidelines for managementJOURNAL OF THE AMERICAN ACADEMY OF NURSE PRACTITIONERS, Issue 5 2005APRN-BCArticle first published online: 6 OCT 200, DeAnn Thomas-Kvidera MSN Purpose To provide advanced practice nurses with a greater understanding of the pathophysiology, diagnostics, and management of diastolic dysfunction resulting from hypertension. Data sources Electronic database searches were performed using Medline and CINAHL. Data were obtained from medical textbooks and research and review articles. Conclusions As the number of older adults with heart failure (HF) continues to increase, so will the need for effective care and guidance. In addition to further testing of appropriate pharmacologic regimens, adherence factors such as medication costs and patients' functional abilities must be considered. Implications for practice HF resulting from diastolic dysfunction has emerged as a separate entity over the past 10,15 years. One of the most common causes of diastolic dysfunction is uncontrolled hypertension. Populations at greatest risk include elders, particularly women, and African Americans. [source] Acute Juvenile Pityriasis Rubra Pilaris: A Superantigen Mediated Disease?PEDIATRIC DERMATOLOGY, Issue 5 2001Isabel Betlloch M.D. Juvenile acute pityriasis rubra pilaris (JAPRP) is a form of pityriasis rubra pilaris (PRP) with particular clinical characteristics and course. It is usually preceded by an infectious condition. We report a boy, initially thought to have Kawasaki disease, and subsequently diagnosed as having JAPRP, who made a satisfactory recovery. In this case, prior antibiotic treatment made it impossible to show the presence of any microorganism. However, the clinical characteristics of these patients and the similarities with other disorders involving the skin that are mediated by superantigens led us to think that these antigens may be involved in the development of this disease. Also, in view of the obvious differences between JAPRP and the other PRP, we suggest that, in the future this disorder may be considered a separate entity as a reactive exanthem. [source] ABCD syndrome is caused by a homozygous mutation in the EDNRB geneAMERICAN JOURNAL OF MEDICAL GENETICS, Issue 3 2002Joke B.G.M. Verheij Abstract ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising sensorineural deafness; hypopigmentation of skin, hair, and irides; and HSCR. Therefore, we screened DNA of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah-Waardenburg syndrome. A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene was found. We therefore suggest that ABCD syndrome is not a separate entity, but an expression of Shah-Waardenburg syndrome. © 2002 Wiley-Liss, Inc. [source] Trends in incidence and survival of mesenchymal neoplasm of the digestive tract within a defined population of Northern Norway,APMIS, Issue 3 2006SONJA ERIKSSON STEIGEN Population-based incidence and survival data for gastrointestinal stromal tumor (GIST) are sparse due to the fact that GIST is a rather novel entity both clinically and pathologically, and has not been registered as a separate entity in population-based cancer registries. The aim of the present study was to reclassify all mesenchymal tumors within a defined population of northern Norway over a time-span of 30 years with the purpose of estimating trends of incidence and survival. One hundred and forty-one patients with mesenchymal neoplasms of the digestive tract were identified: 102 as GISTs, 32 as leiomyomatous tumors, 4 as schwannomas, and 3 as fibromas. Incidence rates of GIST showed a significant increase over the whole period, which was not observed for the non-GIST cases. Analysis of GIST cases showed that cases with more than 5 mitoses per 50 high power fields had an increased expected mortality 4 times that of those with fewer mitoses, and the combination of mitotic count and size of tumor can be recommended for categorizing the tumors into different risk levels. The study confirms that GIST is by far the most frequent mesenchymal neoplasm of the digestive tract and that the incidence has increased over the last 30 years. [source] No increased risk of valvular heart disease in adult poststreptococcal reactive arthritisARTHRITIS & RHEUMATISM, Issue 4 2009J. M. van Bemmel Objective Poststreptococcal reactive arthritis (ReA) is a (poly)arthritis presenting after a Streptococcus group A infection. Acute rheumatic fever (ARF), albeit caused by the same pathogen, has different risk characteristics and is considered to be a separate entity. Whereas ARF is known to cause carditis, the risk of carditis in adult poststreptococcal ReA is unknown. Consequently, the prevailing recommendations regarding long-term antibiotic prophylaxis in poststreptococcal ReA are imprecise and derived from the data on ARF. This study was undertaken to investigate the development of valvular heart disease in an unselected cohort of adult patients with poststreptococcal ReA who did not receive antibiotic prophylaxis and were followed up prospectively. Methods All patients presenting with early arthritis to an inception cohort of >2,000 white patients were evaluated. Patients presenting with poststreptococcal ReA (n = 75) were selected. After a median followup of 8.9 years, the occurrence of valvular heart disease was evaluated by transthoracic echocardiography in 60 patients. Controls were matched for age, sex, body surface area, and left ventricular function, with a patient-to-control ratio of 1:2. Results No differences were seen in left ventricular dimensions. Morphologic abnormalities of the mitral or aortic valves were not more prevalent among patients than among controls. Mild mitral regurgitation was present in 23% and 21% of patients and controls, respectively. Mild aortic regurgitation was present in 10% and 11%, and mild tricuspid regurgitation in 43% and 39%, respectively, revealing no significant differences. Conclusion Our findings indicate that there is no increased risk of valvular heart disease in adult poststreptococcal ReA. Based on these data, routine long-term antibiotic prophylaxis is not recommended in adult poststreptococcal ReA. [source] Is microscopic haematuria a urological emergency?BJU INTERNATIONAL, Issue 4 2002M.A. Khan Objective ,To determine the prevalence of urological pathology in a retrospective and prospective study of patients with microscopic haematuria attending a haematuria clinic. Patients and methods ,Between January 1998 and May 2001, 781 patients attended the haematuria clinic; of these, 368 (47%; median age 60 years, range 18,90) had a history of microscopic haematuria, as detected by urine dipstick testing. These patients were investigated by urine culture and cytology, renal ultrasonography, intravenous urography (IVU), flexible cystoscopy, urea and electrolyte analysis, and assay of prostate specific antigen (PSA) where appropriate. Results ,Urine cytology showed no malignant cells in any patient with a history of microscopic haematuria. In 143 patients (39%), urine cytology showed no red blood cells and all other investigations were normal. Of the remaining 225 patients, IVU showed a tumour in one (bladder), renal stones in 15 and an enlarged prostate in two. Renal ultrasonography detected no additional pathology. Urine analysis showed one urinary tract infection. Flexible cystoscopy detected five patients with a bladder tumour (all G1pTa), two urethral strictures, five bladder stones and enlarged prostates, six enlarged prostates only, and nine red patches in the bladder, showing one patient with carcinoma in situ . No PSA levels were suggestive of prostate cancer. Conclusion ,Patients with dipstick-positive haematuria should be re-assessed by urine microscopy before referral. As only 1.4% of patients had a malignant pathology (all noninvasive), microscopic haematuria should be regarded as a separate entity from macroscopic haematuria, and such patients do not need to be referred urgently. [source] Characteristics of extrinsic vs. intrinsic atopic dermatitis in infancy: correlations with laboratory variablesBRITISH JOURNAL OF DERMATOLOGY, Issue 4 2006J-H. Park Summary Background, Atopic dermatitis (AD) has been divided into the extrinsic type (ADe) and the intrinsic type (ADi) according to the serum IgE levels and the presence or absence of allergen-specific IgE. Although previous studies have demonstrated differences in the various immunological parameters, the characteristics of AD in infancy have rarely been reported. Objectives, Our study was performed to analyse the correlations between the laboratory parameters of infantile ADe and ADi. Methods, We recruited 237 infants with AD and checked the SCORAD index, the number of peripheral blood eosinophils, the serum eosinophil cationic protein (ECP) levels, the total serum IgE levels and the specific serum IgE levels in all the patients. We also checked the serum interleukin (IL)-4 and IL-5 levels in 20 patients with ADe and in 20 with ADi. Results, This study showed many peculiar characteristics of infantile AD. In infancy, ADi was more prevalent than ADe. The eosinophil count, the ECP level and the SCORAD in ADi were lower than in ADe. Furthermore, a group of patients without characteristics of ADi or ADe could be identified. We tentatively classify this group as indeterminate type (ADind) and propose it as a separate entity. The clinical severity was well correlated with the eosinophil count and the serum ECP levels in ADe and ADi. Therefore these two parameters could be used as clinical severity markers in infancy. Infants are more allergic to food, and the variety of specific allergenic responses was connected with clinical severity. A higher eosinophil count, a higher ECP level and a higher detection rate of IL-5 in the peripheral blood of infants with ADe means that eosinophils have a more prominent role in ADe than in ADi. Conclusions, Infantile AD has many distinctive features in its laboratory variables as compared with AD in other age groups. Clinicians should recognize these facts when they deal with infants with AD, and further studies are warranted on the natural course of infantile AD. [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] |