Combination Of Clinical Signs Research Articles

Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

The aim of this report is to present a tentative clinical and pathophysiological approach to diseases affecting the neuronal presynaptic terminal, with a major focus on synaptic vesicles (SVs). Diseases are classified depending on which step of the neurobiology of the SV is predominantly affected: (1) biogenesis of vesicle precursors in the neuronal soma; (2) transport along the axon; (3) vesicle cycle at the presynaptic terminal (exocytosis-endocytosis cycle, with the main purpose of neurotransmitter release). Given that SVs have been defined as individual organelles, we highlight the link between the biological processes disturbed by genetic mutations and the clinical presentation of these disorders. The great majority of diseases may present as epileptic encephalopathies, intellectual disability (syndromic or nonsyndromic) with/without autism spectrum disorder (and other neuropsychiatric symptoms), and movement disorders. These symptoms may overlap and present in patients as a combination of clinical signs that results in the spectrum of the synaptopathies. A small number of diseases may also exhibit neuromuscular signs. In general, SV disorders tend to be severe, early encephalopathies that interfere with neurodevelopment. As a consequence, developmental delay and intellectual disability are constant in almost all the defects described. Considering that some of these diseases might mimic other neurometabolic conditions (and in particular treatable disorders), an initial extensive metabolic workup should always be considered. Further knowledge into pathophysiological mechanisms and biomarkers, as well as descriptions of new presynaptic disorders, will probably take place in the near future.

Clinical predictors of hypoxemia in children with WHO classified pneumonia

Background: In developing countries were health providers have to rely on signs and symptoms to identify hypoxemia in pneumonia and start oxygen therapy, this study was therefore conducted to assess the prevalence and predictors of hypoxemia with the hypothesis to design a severity score for hypoxemia in children with pneumonia.Methods: This prospective observational study was carried out at the paediatric emergency department of Gajra Raja Medical College, Gwalior, on children of age 1-60 months admitted with respiratory illness categorised on basis of “Revised WHO Classification of Pneumonia”. Various demographic and clinical features were noted. Oxygen saturation was measured via a pulse oximeter. Hypoxemia was defined as SpO2 <90%. Statistical analysis was done.Results: Of the 200 children studied, 67 (33.5%) had hypoxemia. Fever, breathing difficulty, and crepitations were the most sensitive, while inability to feed, cyanosis, grunting, head nodding and impaired consciousness were the most specific indicators for hypoxemia. Fever, lethargy, inability to feed, nasal flaring, grunting, impaired consciousness and cyanosis were found significant (p value<0.05). Combinations of tachypnea with nasal flaring, grunting, cyanosis, and retractions with grunting were also found significant in predicting hypoxemia. Combinations of tachypnea with grunting (90.2%) and cyanosis (94.7%) were found highly specific. Using these combinations, a new hypoxemia scoring system was designed to predict the severity of hypoxemia.Conclusions: Study suggested that combination of clinical signs may be utilized as markers for hypoxemia in conditions where pulse-oximeter is not available.

A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy.

Several enzymes are involved in fatty acid oxidation, which is a key process in mitochondrial energy production. Inherited defects affecting any step of fatty acid oxidation can result in clinical disease. We present here an extended family of German Hunting Terriers with 10 dogs affected by clinical signs of exercise induced weakness, muscle pain, and suspected rhabdomyolysis. The combination of clinical signs, muscle histopathology and acylcarnitine analysis with an elevated tetradecenoylcarnitine (C14:1) peak suggested a possible diagnosis of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD). Whole genome sequence analysis of one affected dog and 191 controls revealed a nonsense variant in the ACADVL gene encoding acyl-CoA dehydrogenase very long chain, c.1728C>A or p.(Tyr576*). The variant showed perfect association with the phenotype in the 10 affected and more than 500 control dogs of various breeds. Pathogenic variants in the ACADVL gene have been reported in humans with similar myopathic phenotypes. We therefore considered the detected variant to be the most likely candidate causative variant for the observed exercise induced myopathy. To our knowledge, this is the first description of this disease in dogs, which we propose to name exercise induced metabolic myopathy (EIMM), and the identification of the first canine pathogenic ACADVL variant. Our findings provide a large animal model for a known human disease and will enable genetic testing to avoid the unintentional breeding of affected offspring.

A video review of multiple concussion signs in National Rugby League match play

BackgroundVideo review has been introduced in many professional sports worldwide to help recognize concussions. However, to date, there has been very little research on the accuracy of using video analysis to identify signs of concussion and the various combinations of observed signs.MethodsThe objective of the study is to determine the accuracy of combinations of clinical signs of concussion identified using video analysis to identify concussions in the National Rugby League (NRL). Incidences of players using of the concussion interchange rule (CIR) (n = 156), including those where athletes were diagnosed with a concussion (n = 60), were used to calculate sensitivity and specificity of various combinations of concussion signs (unresponsiveness, slow to get up, clutching/shaking head, gait ataxia, vacant stare, and apparent seizure) and their independent association with an eventual diagnosis of concussion.ResultsUsing video analysis, players who were diagnosed with a concussion showed a significantly greater total number of signs at the time of injury (mean = 3.4, SD = 1.3) than those who were removed from play but not diagnosed with a concussion (mean = 3.0, SD = 0.9 signs; p = .046). Players who did not return to play during the same game demonstrated a significantly greater number of total signs than those who did return to play in the same game following CIR activation (mean = 3.4, SD = 1.2 versus mean = 2.9, SD = 0.9; p = 0.002). The most common combination of signs that was observed was clutching/shaking the head and slowness in getting up (17.3%). The sensitivity of the total number of signs observed decreased as the number of signs increased (range = 0.13–0.62), while the specificity increased as more signs were observed (range = 0.29–0.90). Most of the combinations of different observed signs at the time of potential injury were highly specific (> 0.80), but not sensitive to an eventual diagnosis of concussion. When considering all potential predictor variables in a logistic regression model, anticipating the oncoming collision (OR = 3.92, 95% CI = 1.28–12.03), fewer number of defenders involved in the tackle (OR = 0.58, 95% CI = 0.36–0.92), and the presence of a blank or vacant stare (OR = 2.97, 95% CI = 1.26–7.01) were each significantly associated with concussion diagnoses.ConclusionsThe use of video review in the NRL is challenging, but being aware of the combinations of possible concussion signs and the likelihood that various presentations result in a concussion diagnosis can provide a useful addition to sideline concussion identification and removal from play decisions.

Comparison of diagnostic criteria in patients with amyotrophic lateral sclerosis - the contribution of electromyographic findings

Background/Aim. Diagnosis of amyotrophic lateral sclerosis (ALS) is based on combination of clinical signs and electrophysiological correlates of pathological process which takes place in general. New electrophysiological criteria Awaji-Shima (AS) additionally qualify the complex fasciculations and neurogenically modified potentials of motor units as signs of active lesions of peripheral motor neuron, contrary to previously valid revised El Escorial criteria (rEE). The objective of this research was to determine the clinical significance and advantages of using the AS criteria in patients with ALS. Methods. Thirty patients (59.2 ? 10.9 years, 57% of them with spinal form of the disease) with clinically suspected ALS were monitored from the time of diagnosis until reaching the category of definitive diagnosis or death. The clinical evaluation and electromyographic (EMG) examinations were carried out at 3-month intervals. Results. By applying the AS criteria, the category of probable or definite diagnosis was achieved in all patients with ALS, except in one (96.6%), as contrary to the rEE (33.3%), after 6 months of the follow-up period. The subclinical affection in more than two body regions has been defined through detection of denervation potentials (80% of the patients by using the AS, or 67% by the rEE criteria). The complex fasciculations were registered particularly often in small muscles of the feet (37? 40%). Conclusion. Application of the AS criteria improve the achievment of category of probable or definite diagnosis of ALS by 2.7 months earlier compared to the rEE. This outcome is particularly affected by a higher frequency of positive EMG findings, when the AS criteria were employed. Early determination of diagnosis provides the better perspective and more frequent participation of the ALS patients in pharmacotherapy studies intended to establish new therapeutic options.

Control of liver abscesses in lambs by using marbofloxacin

We describe cases of liver abscesses in a group of newborn lambs. Diagnosis was based on the combination of clinical signs with the findings of ultrasonographic examination of the abdomen: oval, hypoechoic structure with regular borders in the liver of the affected lambs. Administration of marbofloxacin (dose rate: 3.0 mg per kg body weight, on three occasions, once daily, two days apart) was effective for treatment; three weeks later, the affected lambs were clinically health.

Are the clinical classifications for psychogenic nonepileptic seizures reliable?

BackgroundPsychogenic nonepileptic seizures (PNESs) are episodes that resemble epileptic seizures but are of psychological origin. A few studies have attempted to describe different types of PNES as a combination of clinical signs but their validation and robustness have not yet been reached. The aim of this study was to assess the inter-rater reliability (IRR) of five existing clinical PNES classifications. MethodsA total of 107 PNESs from 54 patients were retrospectively analyzed independently by two trained epileptologists, who were blinded to each other's findings. The recorded events were grouped according to the five chosen classifications systems. The IRR was measured using a kappa (κ) coefficient for each PNES classification. We also report category-specific κ values. ResultsOur study demonstrated a mild to moderate IRR (κ from 0.44–0.68) for classifying PNES using the 5 proposed classification schemes. Within these classifications, the most reproducible classes are the subjective ones followed by the dialeptic group. Classes based on motor signs are the least reproducible. ConclusionThe IRR for current clinical classifications of PNES was only moderate. The difficulty to analyze motor signs could explain this poor reliability. It is necessary to ensure the reliability of clinical classifications of PNES in order for them to be a relevant tool in clinical practice or to explore correlations in clinical research. Future research would benefit from increased precision of diagnostic criteria specific to each class.

Insights into the management of Wilson's disease.

Wilson's disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the causative gene, ATP7B, results in absent or reduced function of the ATP7B transporter important for biliary excretion of copper and incorporation of copper into caeruloplasmin. Affected patients accumulate excessive copper within the liver, brain and other tissues. A disease mainly of children, adolescents and young adults; clinical features vary from the asymptomatic state to chronic liver disease, acute liver failure, and neuropsychiatric manifestations. Diagnosis requires a high index of suspicion and is based on a combination of clinical signs, biochemical tests, hepatic copper content assay and mutation analysis of the ATP7B gene; to date, there are more than 500 mutations of ATP7B in patients with Wilson's disease. Early recognition and treatment can result in an excellent prognosis whereas untreated disease is almost always fatal. Drug therapies include chelating agents, such as penicillamine or trientine, and zinc salts. Liver transplantation is curative correcting the underlying pathophysiology and is traditionally indicated in acute liver failure or end-stage liver disease refractory to medical therapy. This review provides an overview of various aspects of Wilson's disease including molecular basis of the disease, clinical features, diagnostic and management strategies with their current limitations.

Isolated Traumatic Brachialis Muscle Tear: A Case Report and Review of Literature

Isolated traumatic brachialis muscle tears are uncommonly reported - leading to occasional misdiagnosis and misdirected treatment. The rarity of brachialis muscle tear may promote misdiagnosis or mistreatment of this injury. We report an isolated brachialis muscle tear in a young female, possibly caused by strenuous exercise in the gymnasium. The diagnosis was made clinically and confirmed by magnetic resonance imaging. The patient was subsequently managed adequately with conservative treatment. We herein present a 35-year-old woman who was diagnosed with an acute brachialis muscle tear being diagnosed with a combination of clinical signs and imaging and successfully managed non-operatively. A chronologically arranged review of literature is also presented.

Current Approach to the Diagnosis and Emergency Department Management of Appendicitis in Children.

Concerns about radiation exposure have led to a decrease in the use of computed tomography in suspected appendicitis, with increased reliance on ultrasound. Children with suspected appendicitis should be risk stratified using a combination of clinical signs and symptoms, white blood cell count, and ultrasound in order to guide further evaluation and management. Magnetic resonance imaging is a promising imaging modality but remains costly. Ongoing research is evaluating the role of nonoperative management in children with confirmed appendicitis.

Paediatric bone and joint infection

Despite advances in understanding and management, paediatric osteoarticular infections continue to pose diagnostic difficulties for clinicians. Delays in diagnosis can lead to potentially devastating morbidity.No single investigation, including joint aspiration, is sufficiently reliable to diagnose conclusively paediatric bone and joint infection. Diagnosis should be based on a combination of clinical signs, imaging and laboratory investigations. Algorithms should supplement, and not replace, clinical decision making in all cases.The roles of aspiration, arthrotomy and arthroscopy in the treatment of septic arthritis are not clearly defined. There is a very limited role for surgery in the management of acute haematogenous osteomyelitis.The ideal duration and mode of administration of antibiotic therapy for osteoarticular paediatric infection is not yet fully defined but there is increasing evidence that shorter courses (three weeks) and early conversion (day four) to oral administration is safe and effective in appropriate cases. Clear and concise antibiotic guidelines should be available based on local population characteristics, pathogens and their sensitivities.Kingella kingae is increasingly identified through polymerase chain reaction and is now recognised as the commonest pathogen in children aged under four years. Methicillin-resistant Staphylococcus aureus and Panton-Valentine leukocidin-producing strains of Staph. aureus are being increasingly reported.A multidisciplinary integrated evidence-based approach is required to optimise outcomes.Further large-scale, multicentre studies are needed to delineate the optimal management of paediatric osteoarticular infection. Cite this article: EFORT Open Rev 2017;1:7-12. DOI: 10.1302/2058-5241.2.160027.

Lumbar Stenosis of the Aging Spine: Evaluation and Treatment According to the Evidence Based Medicine for the Improvement of the Quality of Life

The lumbar spinal stenosis (LSS) is a syndrome with a wide economic and social impact on the adult population. It is a particular form of narrowing of the lumbar vertebral canal or the intervertebral foramina which can compress the neural and vascular elements in the lumbar spine. It is a degenerative process which predominantly affects the geriatric population. The increase of the life expectancy has increased the health needs of this target of population. The (LSS) is a syndrome that can manifest itself with lower back pain and pain to the inferior limbs, and functional disabilities which affects mobility and motor skills. Given the complexity of the clinical presentation, an accurate clinical-functional evaluation is needed that includes: The combination of clinical signs from the patient’s history, a physical evaluation and diagnostic imaging, excluding possible red flags. In this respect, the use of Rehabilitative Ultrasound Imaging (RUSI) might be useful in the evaluation and treatment process, enhancing the effectiveness and documenting the benefits of it. The aim of this work is to propose an integrated evidence-based approach that may be useful for improving the quality of life of LSS patients.

Clinical predictors of positive temporal artery biopsy

ObjectiveWe investigated the ability of known clinical signs and symptoms, as well as common laboratory tests, to correctly predict a positive temporal artery biopsy. DesignA prospective cohort study. ParticipantsConsecutive patients in a tertiary referral centre undergoing temporal artery biopsy. MethodsClinical information was collected using a predesigned questionnaire. Pathology results and laboratory information were collected from digital patient records. Main Outcome measureThe predictive value of clinical signs, symptoms, and laboratory values of a positive temporal artery biopsy. ResultsOver a 3-year period, 259 patients were enrolled and 251 patients were analyzed. Sixty-one patients had a positive biopsy. Clinical features most predictive of a positive biopsy were jaw claudication (positive likelihood ratio [LR+] 2.31) and abnormal temporal artery pulse (LR+ 2.62). Receiver operating characteristic curves generated for erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and platelets values showed an area under curve (AUC) value of 0.71, 0.75, and 0.76, respectively. The initiation of steroids decreased the diagnostic utility of the ESR, CRP, and platelets values (AUC = 0.58, 0.61, and 0.63, respectively). ConclusionsA variety of clinical signs and symptoms were observed in patients referred for a temporal artery biopsy. Clinical signs and symptoms were less accurate in predicting a positive biopsy than laboratory tests. No combination of clinical signs and symptoms tested was able to predict giant cell arteritis with the certainty necessary to justify or withhold long-term steroid therapy.

Circulation of multiple genotypes of H1N2 viruses in a swine farm in Italy over a two-month period

In August 2012 repeated respiratory outbreaks caused by swine influenza A virus (swIAV) were registered for a whole year in a breeding farm in northeast Italy that supplied piglets for fattening. The virus, initially characterized in the farm, was a reassortant Eurasian avian-like H1N1 (H1avN1) genotype, containing a haemagglutinin segment derived from the pandemic H1N1 (A(H1N1)pdm09) lineage. To control infection, a vaccination program using vaccines against the A(H1N1)pdm09, human-like H1N2 (H1huN2), human-like H3N2 (H3N2), and H1avN1 viruses was implemented in sows in November 2013. Vaccine efficacy was assessed by sampling nasal swabs for two months in 35–75 day-old piglets born from vaccinated sows. Complete genome sequencing of eight swIAV-positive nasal swabs collected longitudinally from piglets after the implementation of the vaccination program was conducted to investigate the virus characteristics.Over the two-month period, two different genotypes involving multiple reassortment events were detected. The unexpected circulation of multiple reassortant genotypes in such a short time highlights the complexity of the genetic diversity of swIAV and the need for a better surveillance plan, based on the combination of clinical signs, epidemiological data and whole genome characterization.

Diagnostic scoring for familial hypercholesterolaemia in practice.

Diagnostic scoring for familial hypercholesterolaemia (FH) can be used either to screen for possible FH or guide the selection of patients for genetic (DNA) testing. We review the published diagnostic criteria and discuss the options for future development. Scoring systems have been developed internationally based on lipid values and various combinations of clinical signs and cardiovascular history. The predictive value varies according to the test population, be it lipid clinic referrals, general population, or relatives of patients with FH. Also, there is increasing recognition of genetic heterogeneity in FH so that criteria are of differing predictive value depending on the genetic variant of FH. These clinical scoring systems are increasingly used to guide selection of patients for FH genetic testing but no single approach has yet emerged as the system of choice. Further refinement of these scoring tools using more sophisticated calculators are superseding the more manual approaches. These are well suited to web-based tools or smartphone applications.

Neuroendocrine Cell Hyperplasia of Infancy

Neuroendocrine cell hyperplasia of infancy (NEHI) is a disease of the unknown etiology which is one of the rare, insufficiently explored interstitial lung diseases. It might be encountered among children up to two years old and it is characterized by persistent tachypnea, crackles, hypoxemia without being oxygen-dependent and hyperplasia of bombesin-positive neuroendocrin cells of peripheral respiratory tracts in lung biopsy. The lung CT shows that there are mosaic attenuation air trapping involving more than four lung segments and ground glass opacity mostly marked in the middle lobe of the right lung and lingular segments of the left lung. А precise diagnosis establishment based on a combination of clinical signs and HRCT data is possible without implementation of invasive research methods, lung biopsy in particular. At present there is no specific treatment for this disease; infants diagnosed with NEHI require special monitoring since it is not known whether this disease has a connection with idiopathic diffusive hyperplasia of PNE-cells of adults (IDYPNC) and how this pathology might affect lung development and their function in adults. The most part of patients with NEHI have satisfactory clinical results and there have been no fatal cases. Despite such positive data on this understudied disease, infants with NEHI require special monitoring and comprehensive research since long-term effects of this disease in an older age are still undiscovered. In this article case of NEHI in 1,5 years old child with a complaint for tachypnea and cough is submitted.

Clinical and psychopathological features of paranoid schizophrenia in patients with comorbid bone tuberculosis in terms of their psychosocial rehabilitation

Aim – to analyze the features of clinical and psychopathological symptomatology of paranoid schizophrenia (PS) in patients with comorbid bone tuberculosis (CBT) in terms of detecting an influence of the main maladjustment indicators that lead to problems in patients functioning as the targets of measures for their psychosocial rehabilitation. Contingent . 120 men with paranoid schizophrenia (PS). 60 patients with PS and comorbid bone tuberculosis (CBT) formed the main group of research, 60 patients with PS formed the comparative one. Methods . The main method of research was clinical and psychopathological one that included standardized clinical interview with the use of “Evaluating list of symptoms and glossary for psychical disorders WHO” (1994) (Module F2: psychotic syndrome) that was added with materials of retrospective analysis of medical documentation and the results of using the scale РANSS. Results . The study of clinical and psychopathological features and the structure of intensity of positive, negative and general psychopathological syndromes of PS with CBT obligatory must be carried out from two points of view: firstly the correction of psychosocial maladjustment that is needs and tasks that appear in rehabilitative work with comorbid patients. So, various in most cases unpredictable character of combination of clinical signs leads to “maladjustment obstacles” in psychosocial rehabilitation. Secondly the neglect of the degree of symptoms intensity at psychosocial rehabilitation leads to decrease of “adaptive potential” and destruction of acquired “general habits of adaptation” at overcoming the problems in functioning as a result of both PS and CBT. Conclusions . Established features of clinical and psychopathological manifestations of paranoid schizophrenia in patients with comorbid bone tuberculosis were used as a basis at elaboration of complex measures for rehabilitation of given contingent

Fluid markers of traumatic brain injury.

Traumatic brain injury (TBI) occurs when an external force traumatically injures the brain. Whereas severe TBI can be diagnosed using a combination of clinical signs and standard neuroimaging techniques, mild TBI (also called concussion) is more difficult to detect. This is where fluid markers of injury to different cell types and subcellular compartments in the central nervous system come into play. These markers are often proteins, peptides or other molecules with selective or high expression in the brain, which can be measured in the cerebrospinal fluid or blood as they leak out or get secreted in response to the injury. Here, we review the literature on fluid markers of neuronal, axonal and astroglial injury to diagnose mild TBI and to predict clinical outcome in patients with head trauma. We also discuss chronic traumatic encephalopathy, a progressive neurodegenerative disease in individuals with a history of multiple mild TBIs in a biomarker context. This article is part of a Special Issue entitled 'Traumatic Brain Injury'.

Value of cardiovascular magnetic resonance in patients with suspected inflammatory pericarditis

Background Although the diagnosis of inflammatory pericarditis is usually presumed on a combination of clinical signs and noninvasive testing, especially echocardiography, the presence and extent of pericardial inflammation as such cannot be visualized. Alternatively cardiovascular magnetic resonance imaging (CMR) has shown appealing to study the pathologic pericardium. In this study we sought to explore the findings and the diagnostic value of cardiovascular magnetic resonance imaging (CMR) in patients with clinically suspected inflammatory pericarditis.

A case of probable IgG4-related disease involving the unilateral trigeminal nerve of the cheek region

Immunoglobulin G4 (IgG4)-related disease comprises a recently recognized systemic syndrome char- acterized by mass-forming lesions that are found mainly in exocrine tissue and consist of lymphoplasmacytic infil- trates and sclerosis. There are numerous IgG4-positive plasma cells in the affected tissues, and the serum IgG4 level is increased in patients. The subject was a 77-year-old man with pathologically provable IgG4-related disease involving the unilateral trigeminal nerve in the left cheek region. A tumor-like lesion measuring 40 9 15 9 15 mm in the soft tissues of the left cheek was observed on com- puted tomography and magnetic resonance imaging, and extended along the infraorbital nerves to the anterior region of the maxilla. The mass was hypointense on T2-weighted images and showed mild contrast enhancement. Positron emission tomography showed accumulation in the left cheek (SUVmax: 3.9). Lymphoid follicles of various sizes surrounded by fibrosis were seen in the resected tumor. Immunostaining for IgG and IgG4 showed diffuse distribution of IgG- and IgG4-positive plasma cells in the interfollicular area, and the ratio of IgG4-positive plasma cells to IgG-positive plasma cells was 59 %. IgG4-related disease of the head and neck may be suggested by the combination of clinical signs and symptoms and radiologic findings of an infiltrative mass lesion. Although a definitive diagnosis cannot presently be obtained using IgG4-related disease comprehensive diagnostic criteria, we concluded that the present case was IgG4-related disease based on the good clinical course.