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Clinical Syndrome (clinical + syndrome)
Selected AbstractsDisseminated subcutaneous nocardiosis caused by Nocardia farcinica diagnosed by FNA biopsy and 16S ribosomal gene sequencingDIAGNOSTIC CYTOPATHOLOGY, Issue 4 2008Ronald M. Angeles M.D. Abstract Nocardia is an infrequent but significant cause of infections in the immunocompromised host. Clinical syndromes are varied and ranges from pulmonary, disseminated, cutaneous, and CNS involvement. Here we describe a case of disseminated subcutaneous nodules in a patient with multiple myeloma caused by Nocardia farcinica. The diagnosis was made by FNA biopsy which revealed gram positive filamentous bacilli in background of acute inflammation on smears. This was confirmed by 16S ribosomal gene sequencing. Prompt identification of N. farcinica is important because of its intrinsic resistance to broad spectrum cephalosporins and high risk of dissemination. Diagn. Cytopathol. 2008;36:266,269. © 2008 Wiley-Liss, Inc. [source] Reevaluating the distinction between Axis I and Axis II disorders: The case of borderline personality disorderJOURNAL OF CLINICAL PSYCHOLOGY, Issue 12 2005Anthony C. Ruocco The division between Axis I clinical syndromes and Axis II personality disorders is a long-standing distinction based primarily on three guiding principles: phenomenology, cause, and course. Clinical syndromes were generally thought to be characterized by transient symptoms with biological causes and an unstable course; personality disorders were supposed by many to be characterized by long-standing personality traits, whose roots were primarily psychological, and a stable and unremitting course. Borderline personality disorder (BPD), however, is a condition characterized by distinct clinical symptoms, varied causes, and a relatively unstable course. Past theorizing about the distinction between Axis I and Axis II disorders is presented in light of recent empirical evidence refuting the rationalization for the separation of personality disorders and clinical syndromes using BPD as a means for comparison. © 2005 Wiley Periodicals, Inc. J Clin Psychol 61: 1509,1523, 2005. [source] ACVIM Small Animal Consensus Statement on Lyme Disease in Dogs: Diagnosis, Treatment, and PreventionJOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 2 2006Meryl P. Littman The purpose of this report is to offer a consensus opinion of ACVIM diplomates on the diagnosis, treatment, and prevention of Borrelia burgdorferi infections in dogs (canine Lyme disease). Clinical syndromes known to commonly be associated with canine Lyme disease include polyarthritis and glomerulopathy. Serological test results can be used to document exposure to B. burgdorferi but not prove illness. Although serum enzyme-linked immunosorbent assay/indirect fluorescent antibody assay titers can stay positive for months to years after treatment, quantitative C6 peptide antibody paired tests need more study. Serological screening of healthy dogs is controversial because it can lead to overdiagnosis or overtreatment of normal dogs, most of which never develop Lyme disease. However, serological screening can provide seroprevalence and sentinel data and stimulate owner education about tick infections and control. Although it is unknown whether treatment of seropositive healthy dogs is beneficial, the consensus is that seropositive dogs should be evaluated for proteinuria and other coinfections and tick control prescribed. Tick control can include a product that repels or protects against tick attachment, thereby helping to prevent transmission of coinfections as well as Borrelia spp. Seropositive dogs with clinical abnormalities thought to arise from Lyme disease generally are treated with doxycycline (10 mg/kg q24h for 1 month). Proteinuric dogs might need longer treatment as well as medications and diets for protein-losing nephropathy. The ACVIM diplomates believe the use of Lyme vaccines still is controversial and most do not administer them. It is the consensus opinion that additional research is needed to study predictors of illness, "Lyme nephropathy," and coinfections in Lyme endemic areas. [source] West Nile virus neuroinvasive diseaseANNALS OF NEUROLOGY, Issue 3 2006Larry E. Davis MD Since 1999, there have been nearly 20,000 cases of confirmed symptomatic West Nile virus (WNV) infection in the United States, and it is likely that more than 1 million people have been infected by the virus. WNV is now the most common cause of epidemic viral encephalitis in the United States, and it will likely remain an important cause of neurological disease for the foreseeable future. Clinical syndromes produced by WNV infection include asymptomatic infection, West Nile Fever, and West Nile neuroinvasive disease (WNND). WNND includes syndromes of meningitis, encephalitis, and acute flaccid paralysis/poliomyelitis. The clinical, laboratory, and diagnostic features of these syndromes are reviewed here. Many patients with WNND have normal neuroimaging studies, but abnormalities may be present in areas including the basal ganglia, thalamus, cerebellum, and brainstem. Cerebrospinal fluid invariably shows a pleocytosis, with a predominance of neutrophils in up to half the patients. Diagnosis of WNND depends predominantly on demonstration of WNV-specific IgM antibodies in cerebrospinal fluid. Recent studies suggest that some WNV-infected patients have persistent WNV IgM serum and/or cerebrospinal fluid antibody responses, and this may require revision of current serodiagnostic criteria. Although there is no proven therapy for WNND, several vaccines and antiviral therapy with antibodies, antisense oligonucleotides, and interferon preparations are currently undergoing human clinical trials. Recovery from neurological sequelae of WNV infection including cognitive deficits and weakness may be prolonged and incomplete. Ann Neurol 2006;60:286,300 [source] Rare variations of the left subclavian arteryCLINICAL ANATOMY, Issue 5 2005Faysal A. Saadeh Abstract The subclavian artery is a major constituent of the blood circulatory system. Its position in the root of the neck and its course through the interscalene triangle are significant. Its branches supply divers areas in the body from the brain to the thorax. This case report describes an unusual range of anatomical variations of the course of the left subclavian artery, the origin, and absence of some of its branches and the concomitant abnormal course of the phrenic nerve. Clinical syndromes related to certain variations are reviewed. Clin. Anat. 18:370,372, 2005. © 2005 Wiley-Liss, Inc. [source] Mechanical Bridging to Improvement in Severe Acute ,Nonischemic, Nonmyocarditis' Heart FailureCONGESTIVE HEART FAILURE, Issue 2 2004O.H. Frazier MD Improved myocardial function has been observed in patients with acute myocarditis who have had short-term support with a ventricular assist system. Additionally, a limited number of patients with nonischemic cardiomyopathy have undergone successful device explantation after their myocardial function improved during ventricular assist system support. The authors present their experience with four patients who had acute, severe heart failure without coronary artery disease or biopsy-proven myocarditis. After receiving prolonged ventricular assist system support, all four patients had significantly improved left ventricular function, returning to New York Heart Association functional class I without inotropic therapy. In each case, dobutamine stress echocardiography and invasive hemodynamic tests were performed to confirm improvement of cardiac function before device explantation was undertaken. In all four cases, device explantation was followed by early successful maintenance of left ventricular function. These cases reveal a unique clinical syndrome that may be successfully treated with early institution of ventricular assist system support followed by explantation after myocardial recovery. [source] Cardiac hypertrophy and failure: lessons learned from genetically engineered miceACTA PHYSIOLOGICA, Issue 1 2001Y. Takeishi Congestive heart failure is a major and growing public health problem. Because of improved survival of myocardial infarction patients produced by thrombolytic therapy or per-cutaneous revascularization it represents the only form of cardiovascular disease with significantly increased incidence and prevalence. Clinicians view this clinical syndrome as the final common pathway of diverse pathologies such as myocardial infarction and haemodynamic overload. Insights into mechanisms for heart failure historically derived from physiological and biochemical studies which identified compensatory adaptations for the haemodynamic burden associated with the pathological condition including utilization of the Frank Starling mechanism, augmentation of muscle mass, and neurohormonal activation to increase contractility. Therapy has largely been phenomenological and designed to prevent or limit the deleterious effects of these compensatory processes. More recently insights from molecular and cell biology have contributed to a more mechanistic understanding of potential causes of cardiac hypertrophy and failure. Many different analytical approaches have been employed for this purpose. These include the use of conventional animal models which permit serial observation of the onset and progression of heart failure and a sequential analysis of underlying biochemical and molecular events. Neonatal murine cardiomyocytes have been a powerful tool to examine in vitro subcellular mechanisms devoid of the confounding functional effects of multicellular preparations and heterogeneity of cell type. Finally, significant progress has been made by utilizing tissue from human cardiomyopathic hearts explanted at the time of orthotopic transplantation. Each of these methods has significant advantages and disadvantages. Arguably the greatest advance in our understanding of cardiac hypertrophy and failure over the past decade has been the exploitation of genetically engineered mice as biological reagents to study in vivo the effects of alterations in the murine genome. The power of this approach, in principle, derives from the ability to precisely overexpress or ablate a gene of interest and examine the phenotypic consequences in a cardiac specific post-natal manner. In contrast to conventional animal models of human disease which employ some form of environmental stress, genetic engineering involves a signal known molecular perturbation which produces the phenotype. [source] Etiology of thrombocytopenia in all patients treated with heparin productsEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 2 2005Damian A. Laber Abstract:,Purpose:,To characterize the cause of thrombocytopenia in all patients treated with heparin products, to determine the incidence of heparin-induced thrombocytopenia (HIT) in unselected hospitalized patients, and to have modern data of the magnitude of this problem. Methods:,Retrospective hospital-based cohort study. During a random 2-month period, we reviewed the medical records of all patients treated with heparin agents, screened them for thrombocytopenia, and determined the cause of it. Results:,Out of 674 patients who received heparin products, 110 (16%) had thrombocytopenia. The most common causes included cancer chemotherapy, surgery, sepsis, and medications. Three patients met the clinical criteria for HIT. One had antibodies for heparin-platelet factor-4, and received a direct thrombin inhibitor. The other two individuals had a clinical syndrome that resembled immune HIT, but were not tested for HIT antibodies. One suffered a thrombotic episode that led to the death of her fetus. The other died of a possible thromboembolism. Conclusions:,This study provides evidence-based data for the differential diagnosis of thrombocytopenia after treatment with heparin products. Our findings suggest that increased awareness of the HIT syndrome might reduce morbidity and mortality. Patients exposed to heparin products, who develop thrombocytopenia, should not be overlooked. [source] Gemcitabine-induced severe pulmonary toxicityFUNDAMENTAL & CLINICAL PHARMACOLOGY, Issue 1 2004Fabrice Barlési Abstract Gemcitabine is a relatively new deoxycytidine analog (2,,2,-difluorodeoxycytidine) with structural similarities to cytosine arabinoside (Ara-C). Activity of gemcitabine is demonstrated in the treatment of many solid tumors, like pancreas, ovarian and nonsmall cell lung cancer (NSCLC). Although gemcitabine is considered as a drug with a good safety profile, cases of gemcitabine-induced severe pulmonary toxicity (GISPT) were reported as for Ara-C. We performed a systematic review of reported cases on the GISPT. Twenty-nine clinical trials especially interesting NSCLC patients (21) and 21 reported cases recording 40 patients were analyzed. The incidence of the GISPT varies from 0 to 5%. The clinical presentation is a subacute clinical syndrome and is frequently nonspecific. The predominant radiographic pattern on chest X-ray are reticulo-nodular interstitial infiltrates. It was postulated that the physio-pathological mechanism of the GISPT was an inflammatory reaction of the alveolar capillary wall cytokine-mediated, which created an abnormal permeability of its membrane. After the differential diagnosis were ruled out, the discontinuation of the drug and the early initiation of steroids and diuretics are the most frequently performed treatments. Under these conditions, the outcome was favorable in a delay of few days generally for a majority of patients but 20% of patients died. Some risk factors, as a previous pulmonary disease or a previous thoracic irradiation, for the occurrence of the GISPT were proposed. GISPT is rare but sometimes fatal. Its a necessity to increase awareness about it to enhanced an early and suitable management of patients developing such a toxicity after gemcitabine administration. [source] The clinical syndrome of Alzheimer's disease: aspects particularly relevant to clinical trialsGENES, BRAIN AND BEHAVIOR, Issue 3 2005R. C. Mohs This paper describes the natural history of the clinical syndrome of Alzheimer's disease (AD) including the cognitive deficit, the neuropsychiatric symptoms, impact on daily functioning, risk factors, medical complications and impact on the use of health-care resources. The clinical presentation of the disease varies greatly from the prodrome through end stage; instruments used to quantify the severity of each aspect of the disease have been developed and are described along with their use in clinical drug trials. Drug treatments for AD are usually developed by first showing a positive effect on the cognitive deficit, with later studies investigating drug effects on other clinical aspects of the disease. [source] Study and description of hydrogels and organogels as vehicles for cosmetic active ingredientsINTERNATIONAL JOURNAL OF COSMETIC SCIENCE, Issue 4 2010M. E. Morales J. Cosmet. Sci., 60, 627,636 (November/December 2009) Synopsis Cellulite, a clinical syndrome mainly affecting women, involves specific changes in conjunctive dermic and subcutaneous tissue, leading to vascular and hypertrophic alterations in adipose tissues and the consequent alteration of tissue structure. This paper describes the design of hydrogels and pluronic-lecithin organogels elaborated as vehicles of Aloe vera (Aloe vera linné) and Hydrocotyle asiatica (Centella asiatica) for the treatment of cellulite. The objective of this work was to carry out a complete evaluation of the proposed formulae through the study of the organoleptic and rheological properties of the formulae. Our work revealed that, in appearance, hydrogels show better organoleptic characteristics than organogels. On the other hand, from a rheological point of view, both hydrogels and organogels display a plastic behavior. However, the main difference between the two is that the more complex internal structure of the organogel bestows it with more viscosity. Finally, in vitro tests with Franz-type diffusion cells revealed that the release of cosmetic active principle from the tested excipients was appropriate, both in terms of magnitude and velocity. [source] Phenotypic Characterization of Early Onset Paget's Disease of Bone Caused by a 27-bp Duplication in the TNFRSF11A Gene,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 8 2003Kiyoshi Nakatsuka Abstract Three different insertion mutations in the TNFRSF11A gene affecting the signal peptide of RANK have been described. An 18-bp duplication at position 84 (84dup18) is associated with the clinical syndrome of familial expansile osteolysis (FEO), whereas a 15-bp duplication at the same site (84dup15) causes the syndrome of expansile skeletal hyperphosphatasia (ESH). Here we report the phenotype of patients harboring a 27-bp duplication at position 75 (75dup27) in RANK. Affected individuals had hearing impairment and tooth loss beginning in the second or third decade. Radiographs of affected bones showed lytic and sclerotic lesions with bony enlargement and deformity. Serum alkaline phosphatase levels were elevated between 2 and 17 times above the normal range. Most patients had pelvic and skull involvement, and all had involvement of the mandible and maxilla. Most patients also had bony enlargement of the small joints of the hands, and one developed hypercalcemia during a period of immobilization. We conclude that the 75dup27 mutation of RANK causes a Paget's disease of bone-like phenotype that is distinct from, but which overlaps with, FEO and ESH. A particularly striking feature was involvement of the mandible and maxilla, but it remains to be seen if this is a specific feature of the 75dup27 mutation until further kindreds with this mutation are reported. [source] Treatment of compulsive hoardingJOURNAL OF CLINICAL PSYCHOLOGY, Issue 11 2004Sanjaya Saxena Compulsive hoarding and saving symptoms, found in many patients who have obsessive-compulsive disorder (OCD), are part of a clinical syndrome that has been associated with poor response to antiobsessional medications and cognitive-behavioral therapy (CBT). Specific CBT strategies targeting the characteristic features of the compulsive hoarding syndrome have had better results. This article provides an overview of the compulsive hoarding syndrome, a review of treatment approaches and their efficacy, a case presentation, and a detailed discussion of intensive, multimodal CBT for compulsive hoarding. New insights into the neurobiological characteristics of compulsive hoarding that might direct future treatment development are also presented. © 2004 Wiley Periodicals, Inc. J Clin Psychol/In Session. [source] Review article: the current management of acute liver failureALIMENTARY PHARMACOLOGY & THERAPEUTICS, Issue 3 2010D. G. N. CRAIG Aliment Pharmacol Ther,31, 345,358 Summary Background, Acute liver failure is a devastating clinical syndrome with a persistently high mortality rate despite critical care advances. Orthotopic liver transplantation (OLT) is a life-saving treatment in selected cases, but effective use of this limited resource requires accurate prognostication because of surgical risks and the requirement for subsequent life-long immunosuppression. Aim, To review the aetiology of acute liver failure, discuss the evidence behind critical care management strategies and examine potential treatment alternatives to OLT. Methods, Literature review using Ovid, PubMed and recent conference abstracts. Results, Paracetamol remains the most common aetiology of acute liver failure in developed countries, whereas acute viral aetiologies predominate elsewhere. Cerebral oedema is a major cause of death, and its prevention and prompt recognition are vital components of critical care support, which strives to provide multiorgan support and ,buy time' to permit either organ regeneration or psychological and physical assessment prior to acquisition of a donor organ. Artificial liver support systems do not improve mortality in acute liver failure, whilst most other interventions have limited evidence bases to support their use. Conclusion, Acute liver failure remains a truly challenging condition to manage, and requires early recognition and transfer of patients to specialist centres providing intensive, multidisciplinary input and, in some cases, OLT. [source] Hepatozoon americanum: an emerging disease in the south-central/southeastern United StatesJOURNAL OF VETERINARY EMERGENCY AND CRITICAL CARE, Issue 1 2010Thomas M. Potter DVM Abstract Objective , To review the clinical epidemiologic and pathophysiologic aspects of Hepatozoon americanum infection in dogs. Data Sources , Data from veterinary literature were reviewed through Medline and CAB as well as manual search of references listed in articles pertaining to American canine hepatozoonosis. Veterinary Data Synthesis , H. americanum is an emerging disease in endemic areas of the United States. It is vital that practitioners in these areas become familiar with the clinical syndrome of hepatozoonosis and the diagnostic modalities that can be utilized to document the presence of infection. Additionally, veterinarians must understand the epidemiology of the disease in order to better prevent infections in their veterinary patients. Recent data have been published that shed new light on transmission of H. americanum to dogs; however, much remains unknown regarding patterns of infection and the natural vertebrate host source. Conclusions , While the prognosis for untreated H. americanum remains poor, for patients in which the disease is recognized and properly treated the outcome is favorable. Understanding the complex life cycle, numerous clinical symptoms, and treatment protocol will assist veterinarians who are treating patients with hepatozoonosis. [source] Estimation of Left Ventricular Filling Pressure by Doppler Echocardiography in Dogs with Pacing-Induced Heart FailureJOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 3 2008K.E. Schober Background: Congestive heart failure (CHF) is a common clinical syndrome characterized by elevated filling pressure. Hypothesis: Doppler echocardiographic (DE) variables of left ventricular (LV) filling can predict a decline of LV end-diastolic pressure (LVEDP) induced by acute preload reduction in dogs with compensated CHF. Animals: Five male hound dogs. Methods: Dogs previously instrumented with a transvenous cardiac pacemaker and a LV pressure gauge were paced at 160,180 bpm to induce mild CHF characterized by LVEDP > 20 mmHg. LVEDP and 9 DE variables of LV filling derived from diastolic time intervals, transmitral and pulmonary venous flow, and tissue Doppler imaging were measured simultaneously at baseline and 30, 60, 120, and 240 minutes after furosemide (4 mg/kg, IV) or placebo (0.9% saline, IV). Repeated measures analysis of variance and correlation analysis were used to determine the association between the decline of LVEDP after furosemide and DE measures of LV filling pressure (LVFP). Results: Furosemide but not placebo decreased LVEDP (P < .001). The ratio of early transmitral flow velocity to LV isovolumic relaxation time (E : IVRT) predicted LVEDP best (R2= .50; P < .001). Correlations were also found between LVEDP and IVRT, E, ratio between E and late diastolic transmitral flow velocity (E : A), and early diastolic velocity of the mitral annulus (Ea). The ratio of E to Ea (E : Ea) was not useful in the prediction of LVEDP in this model. Conclusion and Clinical Importance: E : IVRT can be used to predict LVFP in dogs with mild left-sided CHF induced by rapid pacing. [source] Small-for-size liver syndrome after auxiliary and split liver transplantation: Donor selectionLIVER TRANSPLANTATION, Issue 9 2003Nigel Heaton Small-for-size liver grafts can be defined by a recognizable clinical syndrome that results from the transplantation of too small a functional mass of liver for a designated recipient. A graft to recipient body weight ratio less than 0.8, impaired venous inflow, and enhanced metabolic demands in patients with poor clinical conditions must be considered as main factors leading to the small-for-size syndrome (SFSS) when using living and cadaveric partial grafts such as split and auxiliary liver grafts. Increased risk of graft dysfunction is currently observed in fatty infiltration of more than 30%, abnormal liver test results (especially bilirubin and gamma glutaryl transferase), and other donor risk factors such as high inotrope administration and donor stay in the intensive care unit (>5 days). Older donors are especially vulnerable to prolonged cold ischemia and high inotrope levels, giving rise to early graft dysfunction and prolonged cholestasis. Increased metabolic need on a functionally small-for-size graft predisposes to surgical and septic complications and poorer survival. Splitting livers into right and left lobe grafts increases the potential risk of small-for-size grafts for both recipients. Several techniques of venous outflow reconstruction/implantation have been proposed to reduce the risk of obstruction postoperatively. Prevention and management of SFSS will improve in parallel with the increased experience, allowing us optimum usage of available organs and reducing overall morbidity and mortality. (Liver Transpl 2003;9:S26-S28.) [source] Adult-onset tic disorder, motor stereotypies, and behavioural disturbance associated with antibasal ganglia antibodiesMOVEMENT DISORDERS, Issue 10 2004Mark J. Edwards MBBS Abstract The onset of tics in adulthood is rare and, unlike the childhood variety, there is commonly a secondary environmental cause. We present four cases (1 man, 3 women) with an adult onset tic disorder (mean age of onset, 36 years; range, 27,42 years) associated with the presence of serum antibasal ganglia antibodies (ABGA). One patient had motor tics and unusual motor stereotypies, 2 had multiple motor and vocal tics, and the remaining patient had motor tics only. Concomitant psychiatric disturbance was noted in 3 cases. In 2 cases, there was a close temporal relationship between upper respiratory tract infection and the subsequent onset of tics. Imaging was possible in three cases and was normal in two but revealed a lesion involving the right caudate and lentiform nuclei in the other. We suggest that there might be a causal relationship between ABGA and the clinical syndrome in these cases and that ABGA should be considered as a possible etiology for adult-onset tics. © 2004 Movement Disorder Society [source] Review: Familial Parkinson's disease , genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the diseaseNEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 3 2008Carola Schiesling The identification of the first gene in familial Parkinson's disease (PD) only 10 years ago was a major step in the understanding of the molecular mechanisms in neurodegeneration. Alpha-synuclein aggregation was not only recognized as a key event in neurodegeneration in patients carrying mutations in this gene, but it turned out to be the most consistent marker to define Lewy body pathology also in non-heritable idiopathic PD (IPD). Subsequent comprehensive pathoanatomical studies of IPD brains led to a novel concept of an ascending pathological process in variable stages that are reflected by alpha-synuclein aggregation at specific predilection sites. To date, more than seven genes are known to cause familial PD. The fact that these genetic forms of Parkinsonism present with clinical features indistinguishable from IPD, but may display neuropathological features that are not consistent with IPD, underscores the need of a more differentiated approach to familial and sporadic forms of Parkinsonism. Indeed, in distinct populations, mutations in one single gene were found to cause the disease in up to 40% of patients formerly described as ,idiopathic' cases. These findings indicate that IPD, as defined by a late-onset disorder with no (apparent) genetic contribution, is part of a clinical syndrome that becomes more and more heterogeneous in terms of aetiology, with overlapping clinical and pathoanatomical features. Thus in the present review, we discuss clues from familial PD to our understanding of the molecular pathogenesis of neurodegeneration with special consideration of the variable clinical and neuropathological aspects. [source] Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenitaANNALS OF NEUROLOGY, Issue 6 2003Peter B. Kang MD Arthrogryposis multiplex congenita (AMC), a clinical syndrome characterized by multiple congenital joint contractures, frequently is caused by lesions in the peripheral nervous system. Two standard tests for the evaluation of the motor unit are nerve conduction studies/electromyography (NCS/EMG) and muscle biopsy. We reviewed the diagnostic value of these two studies in the evaluation of AMC over a 23-year period, analyzing 38 patients with AMC who had NCS/EMG, muscle biopsy, or both. Final diagnoses were classified as neurogenic (8 patients), myopathic (10 patients), "other" (12 patients), or unknown (8 patients). Neither test alone had consistently high sensitivities, positive predictive values, or specificities. However, when NCS/EMG and muscle biopsy were concordant for neurogenic or myopathic findings, they were more accurate than either test alone, especially for neurogenic diseases. Test results were most commonly discordant in patients with "other" or unknown diagnoses. These findings suggest that when the clinical evaluation indicates a specific syndromic, developmental, or exogenous cause, NCS/EMG and muscle biopsy are not helpful and may not need to be performed. When the history, examination, and genetic evaluation are unrevealing, NCS/EMG and muscle biopsy together provide valuable diagnostic information. [source] Clinical diagnosis and differential diagnosis of CJD and vCJD,APMIS, Issue 1 2002Inga Zerr The most widely distributed form of transmissible spongiform encephalopathy, sporadic Creutzfeldt-Jakob disease, typically affects patients in their sixties. Rapidly progressive dementia is usually followed by focal neurological signs and typically myoclonus. The disease duration in sporadic CJD is shorter than in variant CJD (6 months and 14 months, respectively). The clinical diagnosis in sporadic CJD is supported by the detection of periodic sharp and slow wave complexes in the electroencephalogram, hyperintense signals in basal ganglia on magnetic resonance imaging and elevated levels of neuronal proteins in the cerebrospinal fluid (such as 14-3-3). In contrast to the sporadic form, hyperintense signals in the posterior thalamus ("pulvinar sign") are seen in variant CJD. Following recent developments in diagnostic premortem techniques, clinical criteria for probable sporadic and probable variant CJD were established. Clinicopathological studies on sporadic CJD revealed different phenotypes which are characterized by neuropathological lesion profile, clinical syndrome, codon 129 genotype and type of proteinase K-resistant core of the prion protein. Alzheimer's disease and Lewy body dementia are the most frequent differential diagnoses in sporadic CJD in elderly patients, whereas chronic inflammatory disorders of the central nervous system have to be considered in younger patients. [source] Juvenile fibromyalgia syndrome: The role for occupational therapistsAUSTRALIAN OCCUPATIONAL THERAPY JOURNAL, Issue 2 2001G. Ted Brown Juvenile fibromyalgia syndrome, a form of nonarticular rheumatism, is a clinical condition affecting children and adolescents. To date, it has received little or no attention in the professional literature. Occupational therapists have an important role to play in the assessment and management of this paediatric client group. A literature review, the clinical symptoms, prognosis and possible aetiology of this clinical syndrome are presented. The potential role for occupational therapists with paediatric clients diagnosed with juvenile fibromyalgia syndrome is then briefly described. [source] High prevalence of bacterial vaginosis in adolescent girls in a tropical area of EcuadorBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 2 2010M Vaca Please cite this paper as: Vaca M, Guadalupe I, Erazo S, Tinizaray K, Chico M, Cooper P, Hay P. High prevalence of bacterial vaginosis in adolescent girls in a tropical area of Ecuador. BJOG 2010;117:225,228. Bacterial vaginosis (BV) is a common clinical syndrome, but data are scarce on the BV prevalence in tropical regions among sexually active and virgin adolescents. To estimate the prevalence of BV among adolescent girls in an Ecuadorian coastal town, girls were asked to complete a questionnaire on risk factors for BV and vaginal samples were examined. Bacterial vaginosis was present in 31.5% of 213 girls, and the prevalence was similar in self-reported virgin and sexually active girls (OR 1.06, 95% CI, 0.51,2.21, P = 0.88), although the power of this analysis was limited. The prevalence of BV was high among Ecuadorian adolescent girls, and did not appear to be associated with sexual activity. [source] Neuronal migration disorders: clinical, neuroradiologic and genetics aspectsACTA PAEDIATRICA, Issue 3 2009Alberto Spalice Disorders of neuronal migration are a heterogeneous group of disorders of nervous system development. One of the most frequent disorders is lissencephaly, characterized by a paucity of normal gyri and sulci resulting in a ,smooth brain'. There are two pathologic subtypes: classical and cobblestone. Six different genes could be responsible for this entity (LIS1, DCX, TUBA1A, VLDLR, ARX, RELN), although co-delection of YWHAE gene with LIS1 could result in Miller,Dieker Syndrome. Heterotopia is defined as a cluster of normal neurons in abnormal locations, and divided into three main groups: periventricular nodular heterotopia, subcortical heterotopia and marginal glioneural heterotopia. Genetically, heterotopia is related to Filamin A (FLNA) or ADP-ribosylation factor guanine exchange factor 2 (ARFGEF2) genes mutations. Polymicrogyria is described as an augmentation of small circonvolutions separated by shallow enlarged sulci; bilateral frontoparietal form is characterized by bilateral, symmetric polymicrogyria in the frontoparietal regions. Bilateral perisylvian polymicrogyria results in a clinical syndrome manifested by mild mental retardation, epilepsy and pseudobulbar palsy. Gene mutations linked to this disorder are SRPX2, PAX6, TBR2, KIAA1279, RAB3GAP1 and COL18A1. Schizencephaly, consisting in a cleft of cerebral hemisphere connecting extra-axial subaracnoid spaces and ventricles, is another important disorder of neuronal migration whose clinical characteristics are extremely variable. EMX2 gene could be implicated in its genesis. Focal cortical dysplasia is characterized by three different types of altered cortical laminations, and represents one of most severe cause of epilepsy in children. TSC1 gene could play a role in its etiology. Conclusion: This review reports the main clinical, genetical and neuroradiological aspects of these disorders. It is hoped that accumulating data of the development mechanisms underlying the expanded network formation in the brain will lead to the development of therapeutic options for neuronal migration disorders. [source] Glucagon-like Peptide-1 and Myocardial Protection: More than Glycemic ControlCLINICAL CARDIOLOGY, Issue 5 2009Anjali V. Fields MD Pharmacologic intervention for the failing heart has traditionally targeted neurohormonal activation and ventricular remodeling associated with cardiac dysfunction. Despite the multitude of agents available for the treatment of heart failure, it remains a highly prevalent clinical syndrome with substantial morbidity and mortality, necessitating alternative strategies of targeted management. One such area of interest is the ability to modulate myocardial glucose uptake and its impact on cardioprotection. Glucose-insulin-potassium (GIK) infusions have been studied for decades, with conflicting results regarding benefit in acute myocardial infarction. Based on the same concepts, glucagon-like peptide-1-[7,36] amide (GLP-1) has recently been demonstrated to be a more effective alternative in left ventricular (LV) systolic dysfunction. This paper provides a review on the current evidence supporting the use of GLP-1 in both animal models and humans with ischemic and nonischemic cardiomyopathy. Copyright © 2009 Wiley Periodicals, Inc. [source] Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor geneCLINICAL ENDOCRINOLOGY, Issue 3 2007Judit Tőke Summary Introduction, Neonatal severe hyperparathyroidism (NSHPT) is induced by inactivating mutations of human calcium-sensing receptor (CaSR). Only three heterozygous de novo inactivating mutations of CaSR causing NSHPT have been described. We report the case of a now 11-year-old boy with NSHPT and we characterize a novel inactivating mutation along with the results of some functional analyses. Patient and methods, As a neonate the patient presented the clinical syndrome of NSHPT. At 6 years of age persisting hypercalcaemia without clinical symptoms was documented, and the patient remained completely symptom free without parathyroid surgery until his present age of 11 years. The entire coding region of the CaSR gene of the patient and his family members was sequenced. Functional investigation was performed in HEK-293 cells, transiently transfected with wild type and mutant CaSR plasmid constructs. Results, Sequence analysis revealed a novel de novo heterozygous mutation at codon 551 (AGG,AAG), predicting a change of arginine to lysine (R551K) and a known heterozygous polymorphism (A986S) on the same allele, which was inherited from the father. We demonstrated that the novel R551K mutation significantly reduced the calcium sensitivity of CaSR (EC50: from 3·38 ± 0·62,6·10 ± 0·83 mmol/l), which was not alleviated by the simultaneous presence of A986S polymorphism. Conclusions, We present the fourth NSHPT case induced by a novel de novo heterozygous inactivating mutation (R551K) of the CaSR gene. The disease gradually reverted to a symptomless, benign condition resembling familial hypocalciuric hypercalcaemia without any surgical intervention. [source] Growth hormone deficiency and vascular riskCLINICAL ENDOCRINOLOGY, Issue 1 2002Roland W. McCallum Summary The importance of growth hormone deficiency (GHD) in adult life has become more apparent over the last decade. As well as a distinct clinical syndrome there is a significant excess risk of cardiovascular disease. Although it is difficult to ascertain what part is played by the original pituitary disorder and the concomitant replacement hormonal therapies, there is clear evidence that GHD is associated with known cardiovascular risk factors such as body shape, lipid profile, insulin resistance, blood pressure, vessel wall morphology and haemostatic factors. Novel means of assessing vascular risk such as pulse wave velocity and flow-mediated dilatation can also estimate the risk without invasive procedures. The role of possible mediators of endothelial function such as nitric oxide and free radicals is being investigated further. Replacement of GH in GH-deficient patients leads to many effects on the above indices, some but not all of which are associated with reduced vascular risk. Long-term follow-up studies of morbidity and mortality are required for an accurate assessment of the beneficial effects of therapy. [source] Controlling the spread of carbapenemase-producing Gram-negatives: therapeutic approach and infection controlCLINICAL MICROBIOLOGY AND INFECTION, Issue 2 2010Y. Carmeli Clin Microbiol Infect 2010; 16: 102,111 Abstract Although the rapid spread of carbapenemase-producing Gram-negatives (CPGNs) is providing the scientific community with a great deal of information about the molecular epidemiology of these enzymes and their genetic background, data on how to treat multidrug-resistant or extended drug-resistant carbapenemase-producing Enterobacteriaceae and how to contain their spread are still surprisingly limited, in spite of the rapidly increasing prevalence of these organisms and of their isolation from patients suffering from life-threatening infections. Limited clinical experience and several in vitro synergy studies seem to support the view that antibiotic combinations should be preferred to monotherapies. But, in light of the data available to date, it is currently impossible to quantify the real advantage of drug combinations in the treatment of these infections. Comprehensive clinical studies of the main therapeutic options, broken down by pathogen, enzyme and clinical syndrome, are definitely lacking and, as carbapenemases keep spreading, are urgently needed. This spread is unveiling the substantial unpreparedness of European public health structures to face this worrisome emergency, although experiences from different countries,chiefly Greece and Israel,have shown that CPGN transmission and cross-infection can cause a substantial threat to the healthcare system. This unpreparedness also affects the treatment of individual patients and infection control policies, with dramatic scarcities of both therapeutic options and infection control measures. Although correct implementation of such measures is presumably cumbersome and expensive, the huge clinical and public health problems related to CPGN transmission, alongside the current scarcity of therapeutic options, seem to fully justify this choice. [source] A case of benign acute childhood myositis associated with influenza A (H1N1) virus infectionCLINICAL MICROBIOLOGY AND INFECTION, Issue 2 2010M. Koliou Clin Microbiol Infect 2010; 16: 193,195 Abstract Benign acute childhood myositis (BACM) is a rare transient condition usually occurring at the early convalescent phase of a viral upper respiratory tract illness, normally influenza A, and, more frequently, influenza B infection. It is characterized by acute-onset difficulty in walking as a result of severe bilateral calf pain and by elevated muscle enzymes including creatinine kinase. It is self-limiting because there is rapid full recovery usually within 1 week. We describe the first case of BACM in association with the new pandemic influenza A (H1N1) virus infection in an 11-year-old boy from Cyprus. The child had the typical clinical and laboratory characteristics of this clinical syndrome. Prompt diagnosis of this clinical entity is essential to prevent unnecessary investigations and therapeutic interventions and to reassure the patient and parents of the excellent prognosis. [source] Chronic allograft nephropathy , a clinical syndrome: early detection and the potential role of proliferation signal inhibitorsCLINICAL TRANSPLANTATION, Issue 6 2009Josep M. Campistol Abstract:, Chronic allograft nephropathy (CAN) leads to the majority of late graft loss following renal transplantation. Detection of CAN is often too late to permit early intervention and successful management. Most current strategies for managing CAN rely on minimizing or eliminating calcineurin inhibitors (CNIs) once CAN has become established. The proliferation signal inhibitors everolimus and sirolimus have potent immunosuppressive and antiproliferative actions, with the potential to alter the natural history of CAN by reducing CNI exposure whilst avoiding acute rejection. Whilst data will be forthcoming from a number of clinical trials investigating this potential, we discuss early detection of CAN and the rationale for a role for this class of agent. [source] | ||||||||||||||||||||||||||||||||||