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Specific Diagnosis (specific + diagnosis)
Selected AbstractsEvaluation of 2407 fetuses in a Turkish populationPRENATAL DIAGNOSIS, Issue 9 2007Gülay Ceylaner Abstract Objectives Congenital anomalies and intrauterine fetal death (IUFD) are frequent problems in pregnancies. Detection of the etiology is important for genetic counseling, and presenting the geographic distribution of the causes of disorders is necessary for a national policy on precautions. Here, we report the findings of terminated fetuses due to IUFD and congenital anomalies in Turkish population. Methods Physical examinations of fetuses and genetic evaluations of families were done. X-ray studies and autopsy were done in the event of necessity. Findings of these studies were combined with prenatal ultrasound results. All cases were classified according to ICD-10. Results The number of fetuses examined was 2407. Out of these, 1268 fetuses had congenital anomalies. Neurologic anomalies and musculoskeletal system malformations were the most frequent disorders. Specific diagnoses were possible in 64% of all multiple malformation syndromes. Abnormal findings were detected in 18.8% of IUFD fetuses. Nine percent had congenital anomalies and 5.2% had cord complications. The percentage of twins and triplets was 7.5% and 13% of them had anomalies. Conclusion Postmortem evaluation is useful to detect findings necessary for genetic counseling. Our protocol is effective especially in fetuses with congenital anomalies but it can detect only some of the fetal reasons in IUFD cases. A more detailed protocol is needed to investigate IUFD cases. Copyright © 2007 John Wiley & Sons, Ltd. [source] Dental trauma in Turkish children, ,stanbulDENTAL TRAUMATOLOGY, Issue 2 2003Betul Kargul Abstract,,, Numerous studies focus on visits to dental clinics for emergent dental problems. Many are all-inclusive, studying traumatic injuries as well as visits for infection and other causes. Epidemiologic studies have focused on the investigation of the prevalence or incidence of dental injury. The patients were evaluated at Pediatric Dentistry, Marmara University Dental School, ,stanbul over a 2-year period. For these 300 patients (446 teeth), specific diagnoses were evaluated. Dental injuries that presented most frequently in permanent dentition were crown fractures of enamel only and crown fractures of enamel and dentin. The most frequently presented dental injury in primary dentition were avulsions and crown fractures of enamel. The more frequent treatments for primary teeth were examination only. Bandage restoration, space maintainer were common procedures for permanent teeth. [source] Joint liaison psychiatry,diabetes clinic: a new specialist serviceDIABETIC MEDICINE, Issue 6 2000C. Mitchell Summary Aims Specialist diabetes clinics have an established role in prevention and management of complications. As psychological problems are usually treated separately from diabetes centres, the role of a specialist psychiatrist within a teaching hospital was assessed. The aims of the study were to describe referral patterns, specific psychiatric conditions and treatments offered. Results During weekly outpatient sessions over a 12-month period, 31 patients were referred with a wide range of psychiatric diagnoses. One-third of patients were seen on the day and two-thirds within 2 weeks of referral. Treatments included anti-depressant medication, counselling and cognitive behaviour therapy. Successful discharge was obtained in 10 subjects and eight were undergoing continued treatment. Conclusions The range of specific diagnoses requiring psychiatric supervision supported the role of specifically trained personnel as seen in a joint liaison psychiatry,diabetes service. Keywords diabetes mellitus, joint clinic, liaison psychiatry [source] Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype,phenotype relationshipHUMAN MUTATION, Issue 3 2001Niels Gregersen Abstract Mutation analysis of metabolic disorders, such as the fatty acid oxidation defects, offers an additional, and often superior, tool for specific diagnosis compared to traditional enzymatic assays. With the advancement of the structural part of the Human Genome Project and the creation of mutation databases, procedures for convenient and reliable genetic analyses are being developed. The most straightforward application of mutation analysis is to specific diagnoses in suspected patients, particularly in the context of family studies and for prenatal/preimplantation analysis. In addition, from these practical uses emerges the possibility to study genotype,phenotype relationships and investigate the molecular pathogenesis resulting from specific mutations or groups of mutations. In the present review we summarize current knowledge regarding genotype,phenotype relationships in three disorders of mitochondrial fatty acid oxidation: very-long chain acyl-CoA dehydrogenase (VLCAD, also ACADVL), medium-chain acyl-CoA dehydrogenase (MCAD, also ACADM), and short-chain acyl-CoA dehydrogenase (SCAD, also ACADS) deficiencies. On the basis of this knowledge we discuss current understanding of the structural implications of mutation type, as well as the modulating effect of the mitochondrial protein quality control systems, composed of molecular chaperones and intracellular proteases. We propose that the unraveling of the genetic and cellular determinants of the modulating effects of protein quality control systems may help to assess the balance between genetic and environmental factors in the clinical expression of a given mutation. The realization that the effect of the monogene, such as disease-causing mutations in the VLCAD, MCAD, and SCAD genes, may be modified by variations in other genes presages the need for profile analyses of additional genetic variations. The rapid development of mutation detection systems, such as the chip technologies, makes such profile analyses feasible. However, it remains to be seen to what extent mutation analysis will be used for diagnosis of fatty acid oxidation defects and other metabolic disorders. Hum Mutat 18:169,189, 2001. © 2001 Wiley-Liss, Inc. [source] Effect of Trainees on Length of Stay in the Pediatric Emergency DepartmentACADEMIC EMERGENCY MEDICINE, Issue 9 2009Catherine James MD Abstract Background:, Emergency departments (EDs) in teaching hospitals have competing goals of timely patient care and supervised trainee education. Previous investigations have indicated that trainees add time to the length of ED patient encounters. However, no studies have quantified the effect of trainees on pediatric ED length of stay (LOS). Objectives:, The objectives were to measure the effect of trainees on pediatric ED LOS by comparing LOS for patients managed by a pediatric emergency physician (PEP) alone to LOS for patients seen by a trainee and a precepting PEP (Trainee+PEP). A secondary objective was to identify factors other than provider type associated with LOS differences observed in teaching hospital pediatric EDs. Methods:, Data were extracted from a computerized ED tracking system in an urban tertiary care children's hospital with approximately 52,000 visits annually. All patients were seen by a PEP alone, an urgent care physician, or a trainee (a pediatric emergency medicine fellow; a pediatric, emergency medicine, or combined internal medicine/pediatrics resident; or a medical student) plus a precepting PEP. The primary comparison was the ratio of median LOS for the PEP group versus the Trainee+PEP group. Results:, There were 92,193 visits eligible for inclusion over a 2-year period. Median patient age was 5.75 years (interquartile range [IQR] = 21 months to 12.9 years). The PEP group managed 9,141 patients (10%), while the Trainee+PEP group treated 72,135 patients (78%). Overall LOS for an ED visit was 221 minutes. The median LOS was 192 minutes for PEP patients and 225 minutes for Trainee+PEP patients (difference of means = 17%, p < 0.001). Laboratory and imaging studies were associated with LOS increases of 111 and 74 minutes, respectively; both were performed more frequently in Trainee+PEP patients (44% vs. 33% for laboratory studies and 41% vs. 39% for imaging studies, both comparisons p < 0.001). When LOS was analyzed after adjusting for confounding factors including patient acuity, laboratory or radiologic testing, and trainee year, LOS for Trainee+PEP was higher by 17 minutes, or 9% (95% confidence interval [CI] = 6% to 12%, p < 0.001). When LOS was examined for four specific diagnoses (asthma, gastroenteritis, appendicitis, foot/ankle sprain), there were no significant differences in LOS between the PEP and Trainee+PEP groups. Conclusions:, In the pediatric ED of a teaching hospital, ED LOS is on average 9% higher in patients seen by trainees. In an era of increasing efforts to accelerate throughput while training future providers, these findings provide an important metric for the delivery of pediatric emergency care. [source] Psychiatric morbidity among children in North Aceh district (Indonesia) exposed to the 26 December 2004 tsunamiASIA-PACIFIC PSYCHIATRY, Issue 3 2010Tjhin Wiguna MD MIMH PhD Abstract Introduction: The aim of the study was to ascertain, using available data from the Bio-psychosocial Program for children, psychiatric morbidity and specific diagnoses among youths in North Aceh in the year after the tsunami disaster. Methods: All youths (n=2,135) who participated in the program were included in the study and screened in two phases. They were first administered the Strengths and Difficulties Questionnaire (SDQ); those with positive scores were then clinically interviewed by a psychiatrist, who then provided a diagnosis according to the Diagnostic and Statistical Manual of Mental Disorders (fourth edition) (DSM-IV). Results: Subjects ranged in age from 4 to 18 years. Female-to-male ratio was 1:1.5. 98.1% of subjects were directly exposed to the trauma. There were significantly higher percentages (P<0.05) of abnormal total SDQ scores among trauma-exposed youths (52.3% among 4 to 10-year-olds and 46.5% among 11 to 18-year-olds, compared with youths in the non-trauma-exposed group (8% among 4 to 10-year-old children and 12% among 11 to 18-year-old adolescents. Clinical interviews revealed that 8.94% of the trauma-exposed youths met criteria for any mental disorder. Among youths with DSM-IV diagnoses, the most common diagnoses were post-traumatic stress disorder (PTSD; 24.6% of total diagnoses among 4 to 10-year-olds and 35.6% among 11 to 18-year-olds), followed by depressive disorders. Discussion: Consistent with our hypotheses, youths directly exposed to the trauma demonstrated more psychiatric difficulties and higher rates of psychiatric diagnoses, most notably PTSD. Also, compared to younger children, adolescents and older children exposed to the trauma appeared to have higher rates of psychiatric disorders. In the face of disasters , natural or otherwise , further research is needed on optimal prevention of child and adolescent psychiatric morbidity. [source] Completeness of state administrative databases for surveillance of congenital heart diseaseBIRTH DEFECTS RESEARCH, Issue 9 2003Christine E. Cronk Abstract BACKGROUND Tracking birth prevalence of cardiac defects is essential to determining time and space clusters, and identifying potential associated factors. Resource limitations on state birth defects surveillance programs sometimes require that databases already available be used for ascertaining such defects. This study evaluated the data quality of state administrative databases for ascertaining congenital heart defects (CHD) and specific diagnoses of CHD. METHODS Children's Hospital of Wisconsin (CHW) medical records for infants born 1997,1999 and treated for CHD (n = 373) were abstracted and each case assigned CHD diagnoses based on definitive diagnostic reports (echocardiograms, catheterizations, surgical or autopsy reports). These data were linked to state birth and death records, and birth and postnatal (<1 year of age) hospital discharge summaries at the Wisconsin Bureau of Health Information (WBHI). Presence of any code/checkbox indicating CHD (generic CHD) and exact matches to abstracted diagnoses were evaluated. RESULTS Fifty-eight percent of cases with generic CHD were identified by state databases. Postnatal hospital discharge summaries identified 48%, birth hospital discharge summaries 27%, birth certificates 9% and death records 4% of these cases. Exact matches were found for 52% of 633 specific diagnoses. Postnatal hospital discharge summaries provided most matches. CONCLUSION State databases identified 60% of generic CHD and exactly matched about half of specific CHD diagnoses. The postnatal hospital discharge summaries performed best in both in identifying generic CHD and matching specific CHD diagnoses. Vital records had limited value in ascertaining CHD. Birth Defects Research (Part A) 67:597,603, 2003. © 2003 Wiley-Liss, Inc. [source] Cytomorphological study of soft tissue neoplasms: role of fluorescent immunocytochemistry in diagnosisCYTOPATHOLOGY, Issue 5 2005B. Rekhi Objectives:, Exact categorization of soft tissue tumours (STTs) on smears requires application of various ancillary techniques. This study was aimed at evaluating the role of fluorescent immunocytochemistry (FICC) in cyto-diagnosis of 30 STT cases. Methods:, Thirty cases of soft tissue tumours were included in the present study. All cases were subjected to routine Giemsa and Papanicolaou stain. Extra smears were made and kept for fluorescent immunostaining. A panel of cytoskeletal antibodies, tagged with FITC (Fluorescein isothyocynate), was employed in all these cases. Fluorescent immunostained smears were examined under Zeiss Confocal Laser scanning microscope, using double immunofluorescence (red-green). Finally, all cases were subjected to biopsy and again immunoperoxidase staining. Results:, Among the 30 cases in the present study, unaided cytological diagnoses ranged from ,spindle cell' tumour in four (13.3%) cases, benign and malignant spindle cell tumour in 17 (56.6%) cases, to malignant mesenchymal tumour in nine (30%) cases. FICC helped in further correct categorization of 25/30 (83.3%) cases viz. leiomyoma (three), benign neurogenic tumour (six), schwannoma (one), dermatofibrosarcoma protuberans (three), synovial sarcoma (two), rhabdomyosarcoma (two), malignant fibrous histiocytoma (five) and malignant peripheral nerve sheath tumour (three). Aggressive fibromatosis was found to be a missed diagnosis in two cases. Overall concordance between cyto-diagnosis with FICC, and histopathology results was 83.3% (P < 0.05). Conclusion:, Fluorescent immunocytochemistry is a significant ancillary technique for making a rapid and specific diagnosis of STT, as required for their timely management. Incorporation of a wide panel of antibody markers with clinico-cytological correlation is recommended in forming an exact diagnosis in these cases. [source] Injection of the insertion of the deep digital flexor tendon in horses using radiographic guidanceEQUINE VETERINARY EDUCATION, Issue 7 2008J. D. C. Anderson Summary Insertional tendinopathies of the DDFT have been reported both as the sole lesion and as part of a multifocal lesion (Dyson et al. 2003). Computed tomography (CT) and magnetic resonance imaging allow specific diagnosis of deep digital flexor tendon lesions within the hoof capsule; however, direct intralesional treatment of such lesions is difficult because of the hoof's rigid structure. A technique designed to mimic intralesional injection of insertional tendinopathies of the DDFT in the standing horse using radiographic guidance was assessed. Radiographic and contrast CT imaging and sectioning of the limbs confirmed accurate injection in all cases although inadvertant administration of injectate into adjacent structures was also evident. [source] Association of type of sport and performance level with anatomical site of orthopaedic injury diagnosisEQUINE VETERINARY JOURNAL, Issue S36 2006R. C. MURRAY Summary Reason for performing study: Although anecdotal reports of increased orthopaedic injury risk in equine sports exist, there is little scientific evidence to support this. Objectives: To test whether horses undertaking a single competitive sport have increased risk of specific injuries compared to those used for general purpose riding (GP); and whether injury type varies with sport category and performance level. Methods: Data from 1069 records of horses undergoing orthopaedic evaluation (1998,2003) and meeting inclusion criteria were reviewed. Sport category (GP, showjumping, dressage, eventing, racing), level (nonelite or elite) and diagnosis were recorded. Effects of sport category and level on probability of a specific diagnosis were assessed using chisquared tests. Logistic regression was used to determine which competitive sports and levels increased risk of injury compared with GP. Results: Overall there was a significant effect of sport category and level on diagnosis (P<0.0001). There was significant difference between anatomical site injured and sport category (P<0.0001); a high risk of forelimb superficial digital flexor tendon injury in elite eventing (P<0.0001) and elite showjumping (P=0.02); distal deep digital flexor tendon (DDFT) injury in elite showjumping (P=0.002); and hindlimb suspensory ligament injury in elite (P<0.0001) and nonelite (P=0.001) dressage. There was a low risk of tarsal injury in elite eventing (P=0.01) and proximal DDFT injury in dressage (P = 0.01). Conclusions: Horses competing in different sports are predisposed to specific injuries; particular sports may increase the risk of injury at certain anatomical sites; and the type and site of injury may reflect the type and level of performance. Potential relevance: These findings could guide clinicians in the diagnosis of sport related injuries. [source] Use of web-based data collection to evaluate analgesic administration and the decision for surgery in horses with colicEQUINE VETERINARY JOURNAL, Issue 4 2005N. A. WHITE Summary Reasons for performing study: There is no current veterinary information with regard to data entry on a website. We therefore completed a prospective study on use of analgesics in relation to the need for abdominal surgery using a web-based survey instrument. Objectives: To establish an internet-based data entry system that could be used to record prospective data on horses with colic. Hypothesis: Failure of horses to respond to the initial administration of an analgesic is an indicator of the need for abdominal surgery. Methods: A survey was developed to determine if the response to administration of an analgesic during a veterinarian's first examination of a horse with colic was related to the need for surgery. Veterinarians were contacted via AAEP and ECN listservs requesting submission of cases using a log-in system at a data entry website. The survey was completed by submission of a data entry page. Results: Twenty-seven veterinarians submitted details of 119 cases of colic, 28 of which required surgery. The need for surgery was significantly associated with moderate or severe pain observed during the first examination compared to mild or no pain, and with constant pain or return of pain after administration of one or more analgesics and the need to administer a second analgesic treatment. Abnormal findings on rectal examination were not associated with the need for surgery, whereas total absence or decrease of intestinal sounds was significantly related to the odds that surgery was needed. The web-based data collection was successful in collecting all data points on the survey for each case. Conclusions: This study reinforced veterinarians' use of response to therapy as a way to determine the need for abdominal surgery. Potential relevance: When a specific diagnosis has not been made, lack of response or resumption of colic after analgesic administration should be considered as an indicator of the need for surgery. Web-based collection of data allows veterinary practitioners to participate in clinical research by providing prospective data. [source] Clinical value of optical coherence tomography in laryngologyHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 12 2008Marcel Kraft MD Abstract Background. Optical coherence tomography (OCT) is a new, noninvasive imaging technology for the evaluation of superficial lesions. The objective of this study is to evaluate microlaryngoscopy in combination with OCT compared with microlaryngoscopy alone (ie, without OCT) in supplying a specific diagnosis, predicting invasive tumor growth and epithelial dysplasia in the larynx. Methods. This was a prospective study including 217 laryngeal lesions in a total of 193 patients undergoing surgery. Intraoperative suspicion diagnosis gained by microlaryngoscopy with and without OCT was compared with conventional histopathology after excisional biopsy. Results. Microlaryngoscopy with OCT supplied a specific diagnosis in 89% of cases, but in only 80% of cases with microlaryngoscopy alone. In particular, our results in malignant and benign pathologies were correct in 93% each, and the exact grade of dysplasia could be predicted in 71% of precancerous lesions. Microlaryngoscopy with OCT presented a higher sensitivity than microlaryngoscopy alone in predicting invasive tumor growth (93% vs 87%) and epithelial dysplasia (78% vs 66%), but the specificity and accuracy were comparable in both methods. Conclusions. OCT is a simple, rapid, and reliable aid in the diagnostic investigation and intraoperative monitoring of laryngeal disease. © 2008 Wiley Periodicals, Inc. Head Neck, 2008 [source] Application of the ICHD-II Criteria to the Diagnosis of Primary Chronic Headaches Via a Computerized Structured RecordHEADACHE, Issue 1 2007Paola Sarchielli MD Background.,The authors recently developed a software program designed to analyze clinical data from patients affected by primary headache. The program is based exclusively on the International Classification of Headache Disorders 2nd edition (ICHD-II) criteria. This software examines all the diagnoses of primary headaches on the basis of the variables needed to fulfill these mandatory criteria. Methods.,We tested the software, Primary Headaches Analyser 1.0 INT (PHA), by entering and analyzing clinical data from 200 consecutive patients affected by primary chronic headaches and evaluating the corresponding output diagnoses. Results.,The diagnosis of chronic migraine (1.5.1) was obtained in 68 cases (34 %) and that of probable chronic migraine (1.6.5) plus probable medication-overuse headache (8.2.8) in 46 (23%). Chronic tension-type headache (2.3) and probable chronic tension-type headache (2.4.3) plus probable medication-overuse headache (8.2.8) were diagnosed in 24 (12%) and 2 (1%) patients, respectively. Moreover, 4 and 12 patients, respectively, received both the diagnosis of chronic migraine (1.5.1) plus chronic tension-type headache (2.3) and of probable migraine (1.6.1) without aura plus chronic tension-type headache (2.3). In the remaining 44 cases (22%), none of the chronic primary headaches disorders defined by ICHD-II received an output diagnosis from the program. This was due mainly to the fact that the criteria fulfilled were insufficient for the diagnoses of migraine without (1.1) aura plus chronic migraine or, more infrequently, chronic tension-type headache. Conclusions.,Our software program permitted diagnoses of chronic migraine, chronic tension-type or their probable forms (with or without MOH) in 78% of 200 patients with headache 15 or more days per month. In the remaining cases the inability to provide a specific diagnosis may be explained in part by the fact that the criteria for both diagnoses are too stringent and do not accurately reflect variations of the headache pattern in these chronic forms. [source] Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype,phenotype relationshipHUMAN MUTATION, Issue 3 2001Niels Gregersen Abstract Mutation analysis of metabolic disorders, such as the fatty acid oxidation defects, offers an additional, and often superior, tool for specific diagnosis compared to traditional enzymatic assays. With the advancement of the structural part of the Human Genome Project and the creation of mutation databases, procedures for convenient and reliable genetic analyses are being developed. The most straightforward application of mutation analysis is to specific diagnoses in suspected patients, particularly in the context of family studies and for prenatal/preimplantation analysis. In addition, from these practical uses emerges the possibility to study genotype,phenotype relationships and investigate the molecular pathogenesis resulting from specific mutations or groups of mutations. In the present review we summarize current knowledge regarding genotype,phenotype relationships in three disorders of mitochondrial fatty acid oxidation: very-long chain acyl-CoA dehydrogenase (VLCAD, also ACADVL), medium-chain acyl-CoA dehydrogenase (MCAD, also ACADM), and short-chain acyl-CoA dehydrogenase (SCAD, also ACADS) deficiencies. On the basis of this knowledge we discuss current understanding of the structural implications of mutation type, as well as the modulating effect of the mitochondrial protein quality control systems, composed of molecular chaperones and intracellular proteases. We propose that the unraveling of the genetic and cellular determinants of the modulating effects of protein quality control systems may help to assess the balance between genetic and environmental factors in the clinical expression of a given mutation. The realization that the effect of the monogene, such as disease-causing mutations in the VLCAD, MCAD, and SCAD genes, may be modified by variations in other genes presages the need for profile analyses of additional genetic variations. The rapid development of mutation detection systems, such as the chip technologies, makes such profile analyses feasible. However, it remains to be seen to what extent mutation analysis will be used for diagnosis of fatty acid oxidation defects and other metabolic disorders. Hum Mutat 18:169,189, 2001. © 2001 Wiley-Liss, Inc. [source] The role of B cells and alloantibody in the host response to human organ allograftsIMMUNOLOGICAL REVIEWS, Issue 1 2003Attapong Vongwiwatana Summary:, Some human organ transplants deteriorate slowly over a period of years, often developing characteristic syndromes: transplant glomerulopathy (TG) in kidneys, bronchiolitis obliterans in lungs, and coronary artery disease in hearts. In the past, we attributed late graft deterioration to ,chronic rejection', a distinct but mysterious immunologic process different from conventional rejection. However, it is likely that much of chronic rejection is explained by conventional T-cell-mediated rejection (TMR), antibody-mediated rejection (AMR), and other insults. Recently, criteria have emerged to now permit us to diagnose AMR in kidney transplants, particularly C4d deposition in peritubular capillaries and circulating antibody against donor human leukocyte antigens (HLA). Some cases with AMR develop TG, although the relationship of TG to AMR is complex. Thus, a specific diagnosis of AMR in kidney can now be made, based on graft damage, C4d deposition, and donor-specific alloantibodies. Criteria for AMR in other organs must be defined. Not all late rejections are AMR; some deteriorating organs probably have smoldering TMR. The diagnosis of late ongoing AMR raises the possibility of treatment to suppress the alloantibody, but efficacy of the available treatments requires further study. [source] Herpetic Folliculitis is Usually a Consequence of Varicella Zoster Virus InfectionJOURNAL OF CUTANEOUS PATHOLOGY, Issue 1 2005J Blair Skin biopsies of 8 patients diagnosed with herpetic folliculitis by light microscopy were retrieved from the files of the UCSF Dermatopathology Service. Clinical and microscopical features were reviewed and tabulated, and PCR analysis was employed to seek DNA sequences specific for herpes simplex virus (HSV) and varicella zoster virus (VZV). The study group included 4 women and 4 men, ages 15 to 54. Five patients (62%) were immunosuppressed, with underlying conditions including HIV infection, leukemia, rheumatoid arthritis, and lupus erythematosus with polyarteritis nodosa. Microscopically, herpetic cytopathic changes involved the isthmus in 7/8 cases (87%), and involved the sebaceous apparatus in 4/8 cases (50%). Herpetic viropathic changes were not found within eccrine epithelium. A moderate to dense perifollicular infiltrate, comprised mostly of lymphocytes, was evident in 7/8 cases (87%). After PCR expansion of genetic material extracted from the original paraffin blocks, VZV-specific DNA sequences were detected in 8/8 cases. We conclude that herpetic folliculitis is a consequence of VZV infection. Because follicular herpetic infection is often accompanied by a dense perifollicular lymphoid infiltrate, the microscopical presentation can simulate inflammatory skin diseases such as lupus erythematosus. Level sections may be required for a specific diagnosis to be made. [source] Fever of unknown origin in the elderlyJOURNAL OF INTERNAL MEDICINE, Issue 4 2002S. Tal Fever of unknown origin (FUO) means fever that does not resolve itself in the period expected for self-limited infection and whose cause cannot be ascertained despite considerable diagnostic efforts. The differential diagnosis is often different in older patients, and presentation of disease is frequently nonspecific and symptoms are difficult to interpret. Multisystem disease has emerged as the most frequent cause of FUO in the elderly, and temporal arteritis is the most frequent specific diagnosis. Infections, particular tuberculosis, remain an important group. FUO is often associated with treatable conditions in this age group. Early recognition and prompt initiation of appropriate empirical therapy are cornerstones of the strategy. [source] Tumour and tumour-like lesions of the intercondylar notch of the knee: A pictorial reviewJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 5 2008PKL Li Summary A variety of tumours and tumour-like lesions are found in the intercondylar notch of the knee. MR imaging is the technique of choice in evaluating these conditions. Correlation with radiographs is important to identify those lesions containing calcification. This review article discusses the imaging features of tumour and tumour-like lesions involving the intercondylar notch with an emphasis on MR imaging features that suggest a specific diagnosis. [source] Imaging of craniofacial fibrous dysplasiaJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 4 2008DA Lisle Summary Fibrous dysplasia is a relatively common disorder of bone. It may affect the bones of the face and skull and, in so doing, produce a wide variety of clinical presentations. Plain film assessment of craniofacial fibrous dysplasia may be difficult because of varying appearances and complex, overlapping structures. The MRI appearances of fibrous dysplasia are often non-specific and may be confusing. Findings on CT are also variable, but more commonly lead to a specific diagnosis. This is because of the characteristic ground-glass appearance of woven bone, seen on CT in most if not all cases of craniofacial fibrous dysplasia. [source] Opaque maxillary antrum: A pictorial reviewJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 3 2005A Whyte Summary The demonstration of an opaque antrum on a plain radiograph or cross-sectional imaging leads to consideration of an extensive differential diagnosis. Relevant clinical details narrow the differential and include the patient's age, signs and symptoms, a history of recent trauma, prior surgery or dental treatment. Computed tomography remains the most useful technique in coming to a specific diagnosis. Magnetic resonance imaging adds specificity in a few selected situations and is required in conjunction with CT in the staging of malignant tumours. [source] Investigating intellectual disability: A genetic perspectiveJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 7 2003NK Poplawski Abstract: Intellectual disability (ID) is a common paediatric problem. Investigation focused on determining the aetiology of ID is warranted because a specific diagnosis may assist in prognostication, recurrence risk counselling, and identification of therapeutic and educational interventions. Three groups of screening investigations can be justified on the basis of expert opinion, common sense and the small body of published evidence-based medicine. First, investigations where current evidence justifies routine use in the investigation of ID; second, investigations which should be considered in all children with ID, although there is insufficient current evidence to support routine use; and finally, investigations which currently have an unclear role in children with ID and should be restricted to specific clinical situations unless further evidence suggesting otherwise emerges. There is a great need for systematic evaluation of the diagnostic yield of investigation templates based on this proposed stratification of investigations. [source] Recognizing And Treating Non-Infectious RhinitisJOURNAL OF THE AMERICAN ACADEMY OF NURSE PRACTITIONERS, Issue 9 2003Terrye Mastin APRN Purpose To increase clinicians' familiarity with nonallergic and mixed rhinitis and to differentiate these from allergic rhinitis, thus providing for an accurate diagnosis and facilitating a successful initial treatment program. Data Sources A Medline search of published journal articles was supplemented with known books and proceedings pertaining to rhinitis. Conclusions Although there is significant overlap of symptoms among the three types of rhinitis (i.e., allergic, nonallergic, and mixed), the patient history often contains clues that can aid in establishing a correct diagnosis. The new Patient Rhinitis Screen, a questionnaire developed for use in the primary care arena, facilitates the diagnostic process. Implications for Practice As the most common condition in the outpatient practice of medicine, rhinitis is frequently treated by primary care practitioners. Recent guidelines for the diagnosis and management of rhinitis suggest that a specific diagnosis of allergic, nonallergic, or mixed rhinitis leads to more effective treatment strategies. The result is successful and efficient care utilizing, as appropriate, broad-based and symptom-specific therapies. [source] Molecular and immunological characterization of Asp f 34, a novel major cell wall allergen of Aspergillus fumigatusALLERGY, Issue 8 2009A. G. Glaser Background:, Although fungal spores have been recognized as triggers of respiratory allergy and asthma, only two allergenic fungal cell wall components have so far been described. Methods:, Eighty-one sequences derived from an Aspergillus fumigatus cDNA library encoding putative allergens were examined for the presence of cell wall components. A new allergen (Asp f 34) was evaluated by Western blots, enzyme-linked immunosorbent assay (ELISA), peripheral blood mononuclear cell (PBMC) proliferation assays, and skin prick test (SPT). Results:, The cDNA encoding Asp f 34 contained an open reading frame predicting a protein of 185 amino acids with a molecular weight of 19.38 kDa, showing sequence homology to phiA, an essential protein for the formation of conidia in the genus Aspergillus. The recombinant Asp f 34 was binding IgE from sensitized individuals in Western blots. An ELISA survey showed that 94% of the ABPA and 46% of the A. fumigatus -sensitized individuals tested had Asp f 34-specific serum IgE. Asp f 34 induced allergen-specific proliferation exclusively of PBMCs from patients sensitized to the allergen. Eight patients with anti-Asp f 34 serum IgE tested reacted positively in SPT, whereas four A. fumigatus -sensitized individuals without Asp f 34-specific IgE and eight healthy controls scored negatively. Conclusions:, A cell wall protein of the phialides of A. fumigatus was identified as a major allergen. Asp f 34 belongs to the Aspergillus -specific proteins of the phiA family and has relevant potential for a specific diagnosis of Aspergillus sensitization. [source] Novel human testis-specific cDNA: Molecular cloning, expression and immunobiological effects of the recombinant proteinMOLECULAR REPRODUCTION & DEVELOPMENT, Issue 1 2001Ramasamy Santhanam Abstract A differential display-polymerase chain reaction was employed to obtain a testis-specific cDNA fragment. On screening the human testis-,gt10-cDNA library with testis-specific cDNA fragment, a novel cDNA encoding for a sperm antigen, designated TSA-1, was obtained. It has a novel open reading frame (ORF) of 471 base pairs encoding for 156 amino acids. The computer generated translated protein has a calculated molecular mass of 17.4 kDa and contains a potential N-glycosylation site at amino acids 122,124. The hydrophilicity analysis of the amino acid sequence suggested that this protein is a membrane-anchored peptide. Extensive analysis for tissue-specificity by Northern blots and RT-PCR-Southern blot procedures using various human tissues indicated that TSA-1 was specifically expressed only in the human testis. Based on the results of in vitro transcription and translation experiments, the TSA-1 (ORF) was subcloned into pGEX-6P-3 vector and expressed using the glutathione S -transferase gene fusion system. Antibodies (Ab) against the purified recombinant protein specifically recognized the ,17 kDa recombinant TSA-1, and a ,24 kDa band in human sperm extract in the Western blot procedure. The recombinant TSA-1 Ab recognized the acrosomal, equatorial, mid-piece, and tail regions of human sperm cell in indirect immunofluorescence, bound to live human sperm in the immunobeads binding technique (IBT) and caused a significant concentration-dependent inhibition of human sperm acrosome reaction. These findings indicate that the novel sperm-specific recombinant TSA-1 has a role in sperm function and may have applications in the development of a contraceptive vaccine, and in the specific diagnosis and treatment of male infertility. Mol. Reprod. Dev. 60: 1,12, 2001. © 2001 Wiley-Liss, Inc. [source] Inflammatory myopathies: Clinical, diagnostic and therapeutic aspectsMUSCLE AND NERVE, Issue 4 2003Frank L. Mastaglia MD Abstract The three major forms of immune-mediated inflammatory myopathy are dermatomyositis (DM), polymyositis (PM), and inclusion-body myositis (IBM). They each have distinctive clinical and histopathologic features that allow the clinician to reach a specific diagnosis in most cases. Magnetic resonance imaging is sometimes helpful, particularly if the diagnosis of IBM is suspected but has not been formally evaluated. Myositis-specific antibodies are not helpful diagnostically but may be of prognostic value; most antibodies have low sensitivity. Muscle biopsy is mandatory to confirm the diagnosis of an inflammatory myopathy and to allow unusual varieties such as eosinophilic, granulomatous, and parasitic myositis, and macrophagic myofasciitis, to be recognized. The treatment of the inflammatory myopathies remains largely empirical and relies upon the use of corticosteroids, immunosuppressive agents, and intravenous immunoglobulin, all of which have nonselective effects on the immune system. Further controlled clinical trials are required to evaluate the relative efficacy of the available therapeutic modalities particularly in combinations, and of newer immunosuppressive agents (mycophenolate mofetil and tacrolimus) and cytokine-based therapies for the treatment of resistant cases of DM, PM, and IBM. Improved understanding of the molecular mechanisms of muscle injury in the inflammatory myopathies should lead to the development of more specific forms of immunotherapy for these conditions. Muscle Nerve 27:407,425, 2003 [source] ORIGINAL ARTICLE: Presence of Antisperm Antibodies Reactive with Peptide Epitopes of FA-1 and YLP12 in Sera of Immunoinfertile WomenAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 6 2008Jessica Williams Problem Recent studies in several laboratories are focused on delineating sperm antigens that are relevant to fertility and examining involvement of antibodies to these antigens in human immunoinfertility. Our laboratory has characterized two such antigens, namely fertilization antigen (FA-1) and YLP12 dodecamer sequence that are involved in sperm-oocyte binding. The present study was conducted to examine the occurrence of isoantibodies to various peptide epitopes of human and murine FA-1 antigen and YLP12 peptide in sera of immunoinfertile and fertile women. Method of study Sera from 67 immunoinfertile and 19 fertile women were collected. Various peptides based up on human and murine FA-1 antigen and YLP12 were synthesized, and examined for immunoreactivity with these sera by using ELISA. Four immunodominant sequences, two each from human (hFA-182-97aa and hFA-1200-219aa) and mouse (mFA-12-19aa and mFA-1117-136aa) FA-1 antigen, were selected for the present study. Another human FA-1 sequence, hFA-1220-240aa, that was not in the immunodominant region was used as a control. Results For human FA-1 peptides, 41.8% of the immunoinfertile sera reacted positively (,2 SD units) with hFA-182-97aa, 24.6% (16/65) with hFA-1200-219aa, and 3% (2/66) with hFA-1220-240aa peptide. For two murine FA-1 peptides, 41.7% (25/60) of the immunoinfertile sera reacted positively with mFA-12-19aa, and 41.5% (27/65) with mFA-1117-136aa peptide. For the YLP12 dodecamer peptide, 43.3% (29/67) of the immunoinfertile sera reacted positively. None of the sera from fertile women reacted positively with any of these peptides. Conclusion In conclusion, our data indicate that the immunoinfertile women have circulating isoantibodies against at least two immunodominant peptide epitopes of human and murine FA-1 antigen and YLP12 peptide sequence. These peptides may find clinical application in the specific diagnosis and treatment of female infertility and contraceptive vaccine development. [source] Increasing Lung Allocation Scores Predict Worsened Survival Among Lung Transplant RecipientsAMERICAN JOURNAL OF TRANSPLANTATION, Issue 4 2010V. Liu Implemented in 2005, the lung allocation score (LAS) aims to distribute donor organs based on overall survival benefits for all potential recipients, rather than on waiting list time accrued. While prior work has shown that patients with scores greater than 46 are at increased risk of death, it is not known whether that risk is equivalent among such patients when stratified by LAS score and diagnosis. We retrospectively evaluated 5331 adult lung transplant recipients from May 2005 to February 2009 to determine the association of LAS (groups based on scores of ,46, 47,59, 60,79 and ,80) and posttransplant survival. When compared with patients with LAS , 46, only those with LAS , 60 had an increased risk of death (LAS 60,79: hazard ratio [HR], 1.52; 95% confidence interval [CI], 1.21,1.90; LAS , 80: HR, 2.03; CI, 1.61,2.55; p < 0.001) despite shorter median waiting list times. This risk persisted after adjusting for age, diagnosis, transplant center volume and donor characteristics. By specific diagnosis, an increased hazard was observed in patients with COPD with LAS , 80, as well as those with IPF with LAS , 60. [source] The Impact of BRCA1 on Spina Bifida Meningomyelocele LesionsANNALS OF HUMAN GENETICS, Issue 6 2007Terri M. King Summary We examined the BRCA1 gene in 268 patients, and their parents, with a specific diagnosis of spina bifida meningomyelocele (SBMM). We genotyped two intragenic microsatellite markers (BRCA1 D17S1323, BRCA1 D17S1322) and 2 single nucleotide polymorphisms (A1186G, A4956G) in our patients. Transmission disequilibrium testing (TDT) showed significant association with A4956G, but not with A1186G. Extended TDT demonstrated over-transmission of the 17GT allele in BRCA1 D17S1323 and the 14GTT allele in BRCA1 D17S1322, and under-transmission of the 20GT allele in BRCA1 D17S1323 and the 16GTT allele in BRCA1 D17S1322. Our data included location of the rostral edge of the lesion. Individuals homozygous for the 17GT allele for BRCA1 D17S1323 were more likely to have SB lesions located caudally, while heterozygotes with the 17GT allele for BRCA1 D17S1323 had a more rostral lesion. Individuals heterozygous for the 16GTT allele of BRCA1 D17S1322 were more likely to have rostral lesions. We measured gene expression in CEPH members and demonstrated differential expression levels of BRCA1 associated with these polymorphisms. Integrating our data with HapMap findings showed that the polymorphic markers are associated with distinct haplotypes. We conclude that the BRCA1 gene is associated with SBMM and participates in the phenotypic variability seen in SBMM. [source] 1363: White dot syndromesACTA OPHTHALMOLOGICA, Issue 2010S ANDROUDI Purpose The white dot syndromes (WDS) are a group of distinct clinical entities characterized by one common underlying feature: the presence of multiple "spots" in the fundus, usually in the deep retina or choroid without any other systemic manifestations. Methods The disorders are relatively rare and include the following entities: acute posterior multifocal placoid pigment epitheliopathy (APMPPE), multiple evanescent white dot syndrome (MEWDS), birdshot retinochoroidopathy (BSRC), serpiginous choroidopathy (SC), multifocal choroiditis and panuveitis (MCP), punctate inner choroidopathy (PIC), subretinal fibrosis and uveitis syndrome, and presumed ocular histoplasmosis syndrome (POHS). Results Despite the fact that many infectious and noninfectious inflammatory diseases may present with multifocal chorioretinal lesions, the entities included in the WDS share some features which make them a particular group of ocular disorders. In fact, the WDS would be better labeled as idiopathic inflammatory multifocal chorioretinopathies, since with the exception of diffuse unilateral subacute neuroretinitis, their causes are still unknown. Conclusion Because the specific diagnosis may have profound implications on therapy and prognosis, it is important to narrow the diagnosis to the greatest extent possible, even in patients with seemingly atypical findings. The correct diagnosis of WDS is important because the management is totally different from one another. Some of them are self-limited and have good visual outcomes without treatment, while others are associated with serious retinal and choroidal sequelae, which can result in severe visual loss even after adequate immunosuppressive therapy. [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] | |||||||||||||||||||||||||||||||