WorldWideScience

Sample records for clinical manifestations diagnosis

  1. Clinical Manifestations and Diagnosis of Acromegaly

    OpenAIRE

    Gloria Lugo; Lara Pena; Fernando Cordido

    2012-01-01

    Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Ac...

  2. Neurosarcoidosis: Clinical manifestations, diagnosis and treatment.

    Science.gov (United States)

    Nozaki, Kenkichi; Judson, Marc A

    2012-06-01

    Sarcoidosis is an idiopathic granulomatous disease affecting multiple organs. Neurosarcoidosis, involving the central and/or peripheral nervous systems, is a relatively rare form of sarcoidosis. Its clinical manifestations include cranial neuropathies, meningitis, neuroendocrinological dysfunction, hydrocephalus, seizures, neuropsychiatric symptoms, myelopathy and neuropathies. The diagnosis is problematic, especially when occurring as an isolated form without other organ involvement. Distinguishing neurosarcoidosis from other granulomatous diseases and multiple sclerosis is especially important. Although biopsy of neural tissue is the gold standard for the diagnosis of neurosarcoidosis, this is often not practical and the diagnosis must be inferred though other tests, often coupled with biopsy of extraneural organs. Corticosteroids and other immuno-suppressants are frequently used for the treatment of neurosarcoidosis. This article reviews the epidemiology, pathogenesis, pathology, clinical features, diagnosis, diagnostic tests, diagnostic criteria, and therapy of neurosarcoidosis.

  3. Clinical Manifestations and Diagnosis of Acromegaly

    Directory of Open Access Journals (Sweden)

    Gloria Lugo

    2012-01-01

    Full Text Available Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Acromegaly is a disabling disease that is associated with increased morbidity and reduced life expectancy. The diagnosis is based primarily on clinical features and confirmed by measuring GH levels after oral glucose loading and the estimation of IGF-I. It has been suggested that the rate of mortality in patients with acromegaly is correlated with the degree of control of GH. Adequately treated, the relative mortality risk can be markedly reduced towards normal.

  4. Clinical manifestations, diagnosis, and treatment of neurocysticercosis.

    Science.gov (United States)

    Sotelo, Julio

    2011-12-01

    Neurocysticercosis (NCC) is the most frequent parasitic disease of the human brain. Modern imaging studies, CT and MRI, have defined the diagnosis and characterization of the disease. Through these studies the therapeutic approach for each case may be individualized with the aid of antihelmintics, steroids, symptomatic medicines, or surgery. The use of one or various therapeutic measures largely depends on the peculiar combination of number, location, and biological stage of lesions as well as the degree of inflammatory response to the parasites. Although there is not a typical clinical picture of NCC, epilepsy is the most frequent manifestation of parenchymal NCC, whereas hydrocephalus is the most frequent manifestation of meningeal NCC. Eradication of cysticercosis is an attainable goal by public education and sanitary improvement in endemic areas.

  5. ANTIPHOSPHOLIPID SYNDROME: DIAGNOSIS AND CLINICAL MANIFESTATIONS (A LECTURE

    Directory of Open Access Journals (Sweden)

    Tat’yana M Reshetnyak

    2014-01-01

    Full Text Available The lecture provides information about the etiology and pathogenesis of antiphospholipid syndrome (APS and genetic susceptibility to its development. The most recent international diagnostic criteria for APS and its variants have been reported. This syndrome can affect multiple organ systems depending on localization of thrombosis; therefore, nowadays the problem of APS is multidisciplinary. Clinical manifestations of APS are rather general (thrombosis of different localization; thus, the diagnosis can be verified only in the case of presence of antiphospholipid antibodies. The differential diagnosis of APS is discussed.

  6. [Juvenil idiopathic arthritis. Part 1: diagnosis, pathogenesis and clinical manifestations].

    Science.gov (United States)

    Espada, Graciela

    2009-10-01

    Juvenile idiopathic arthritis is not a single disease and constitutes an heterogeneous group of illnesses or inflammatory disorders. This new nomenclature encompasses different disease categories, each of which has different presentation, clinical signs, symptoms, and outcome. The cause of the disease is still unknown but both environmental and genetic factors seem to be related to its pathogenesis. Is the most common chronic rheumatic disease in children and an important cause of short-term and long-term disability. In this article, clinical manifestation, new classification and approach to diagnosis are reviewed.

  7. Cerebral venous thrombosis: Update on clinical manifestations, diagnosis and management

    Directory of Open Access Journals (Sweden)

    Leys Didier

    2008-01-01

    Full Text Available Cerebral venous thrombosis (CVT has a wide spectrum of clinical manifestations that may mimic many other neurological disorders and lead to misdiagnoses. Headache is the most common symptom and may be associated with other symptoms or remain isolated. The other frequent manifestations are focal neurological deficits and diffuse encephalopathies with seizures. The key to the diagnosis is the imaging of the occluded vessel or of the intravascular thrombus, by a combination of magnetic resonance imaging (MRI and magnetic resonance venography (MRV. Causes and risk factors include medical, surgical and obstetrical causes of deep vein thrombosis, genetic and acquired prothrombotic disorders, cancer and hematological disorders, inflammatory systemic disorders, pregnancy and puerperium, infections and local causes such as tumors, arteriovenous malformations, trauma, central nervous system infections and local infections. The breakdown of causes differs in different parts of the world. A meta-analysis of the most recent prospectively collected series showed an overall 15% case-fatality or dependency rate. Heparin therapy is the standard therapy at the acute stage, followed by 3-6 months of oral anticoagulation. Patients with isolated intracranial hypertension may require a lumbar puncture to remove cerebrospinal fluid before starting heparin when they develop a papilloedema that may threaten the visual acuity or decompressive hemicraniectomy. Patients who develop seizures should receive antiepileptic drugs. Cerebral venous thrombosis - even pregnancy-related - should not contraindicate future pregnancies. The efficacy and safety of local thrombolysis and decompressive hemicraniectomy should be tested

  8. Giant cell arteritis. Part I. Terminology, classification, clinical manifestations, diagnosis

    Directory of Open Access Journals (Sweden)

    Azamat Makhmudovich Satybaldyev

    2012-01-01

    Full Text Available Giant cell arteritis (GCA is a vasculitis affecting mainly large and medium-sized arteries, which the classification of systemic vasculitides refers to as those mainly involving the large vessels. GCA is typified by the involvement of extracranial aortic branches and intracranial vessels, the aorta and its large vessels are being affected most frequently. The paper considers the terminology, classification, prevalence, major pathogenic mechanisms, and morphology of GCA. A broad spectrum of its clinical subtypes is due to target vessel stenosis caused by intimal hyperplasia. In 40% of cases, GCA is shown to be accompanied by polymyalgia rheumatica that may either precede or manifest simultaneously with GCA, or follow this disease. The menacing complications of GCA may be visual loss or ischemic strokes at various sites depending on the location of the occluded vessel. Along with the gold standard verification of the diagnosis of GCA, namely temporal artery biopsy, the author indicates other (noninvasive methods for detection of vascular lesions: color Doppler ultrasonography of the temporal arteries, fluorescein angiography of the retina, mag-netic resonance angiography, magnetic resonance imaging, and computed tomography to rule out aortic aneurysm. Dynamic 18F positron emission tomography is demonstrated to play a role in the evaluation of therapeutic effectiveness.

  9. ANTIPHOSPHOLIPID SYNDROME: DIAGNOSIS AND CLINICAL MANIFESTATIONS (A LECTURE)

    OpenAIRE

    Tat’yana M Reshetnyak

    2014-01-01

    The lecture provides information about the etiology and pathogenesis of antiphospholipid syndrome (APS) and genetic susceptibility to its development. The most recent international diagnostic criteria for APS and its variants have been reported. This syndrome can affect multiple organ systems depending on localization of thrombosis; therefore, nowadays the problem of APS is multidisciplinary. Clinical manifestations of APS are rather general (thrombosis of different localization); thus, the d...

  10. Chromoblastomycosis: an overview of clinical manifestations, diagnosis and treatment.

    Science.gov (United States)

    Queiroz-Telles, Flavio; Esterre, Phillippe; Perez-Blanco, Maigualida; Vitale, Roxana G; Salgado, Claudio Guedes; Bonifaz, Alexandro

    2009-02-01

    Chromoblastomycosis is one of the most frequent infections caused by melanized fungi. It is a subcutaneous fungal infection, usually an occupational related disease, mainly affecting individuals in tropical and temperate regions. Although several species are etiologic agents, Fonsecaea pedrosoi and Cladophialophora carrionii are prevalent in the endemic areas. Chromoblastomycosis lesions are polymorphic and must be differentiated from those associated with many clinical conditions. Diagnosis is confirmed by the observation of muriform cells in tissue and the isolation and the identification of the causal agent in culture. Chromoblastomycosis still is a therapeutic challenge for clinicians due to the recalcitrant nature of the disease, especially in the severe clinical forms. There are three treatment modalities, i.e., physical treatment, chemotherapy and combination therapy but their success is related to the causative agent, the clinical form and severity of the chromoblastomycosis lesions. There is no treatment of choice for this neglected mycosis, but rather several treatment options. Most of the patients can be treated with itraconazole, terbinafine or a combination of both. It is also important to evaluate the patient's individual tolerance of the drugs and whether the antifungal will be provided for free or purchased, since antifungal therapy must be maintained in long-term regimens. In general, treatment should be guided according to clinical, mycological and histopathological criteria.

  11. Clinical Manifestations, Diagnosis, and Empirical Treatments for Catatonia

    OpenAIRE

    Bhati, Mahendra T.; Datto, Catherine J; O'Reardon, John P.

    2007-01-01

    Objective: Review the medical literature on the history and clinical features of catatonia so as to provide a contemporary clinical guide for successfully diagnosing and treating the various clinical forms of catatonia.

  12. Hyperthyroidism in four guinea pigs: clinical manifestations, diagnosis, and treatment.

    Science.gov (United States)

    Künzel, F; Hierlmeier, B; Christian, M; Reifinger, M

    2013-12-01

    Hyperthyroidism was diagnosed in four guinea pigs by demonstration of an increased serum total thyroxine concentration. The main clinical signs were comparable with those observed in feline hyperthyroidism and included weight loss despite maintenance of appetite and a palpable mass in the ventral cervical region. Three animals were treated successfully with methimazole for between 13 and 28 months. Clinical signs and regular measurement of circulating total thyroxine concentrations appear to be convenient parameters for monitoring response to medical therapy.

  13. [Vertebrogenic chest pain--"pseudoangina pectoris": etiopathogenesis, clinical manifestations, diagnosis, differential diagnosis and therapy].

    Science.gov (United States)

    Grgić, Vjekoslav

    2007-01-01

    Vertebrogenic pain localised in the anterior thorax can imitate anginal pain ("pseudoangina pectoris"). The most common causes of vertebrogenic chest pain are segmental dysfunction and degenerative changes at the level of the lower cervical and upper middle thoracic spine. Segmental dysfunction is a source of pseudoradicular pain, and degenerative changes, before all disc hernia and dorsal osteophytes which are compressing corresponding nerve roots, are the sources of radicular pain which irradiates in the chest. Because of its similarity with angina pectoris, the intense chest pain caused by the cervical radiculopathy which is often followed by heart rhythm disorders and nonspecific changes of the ST-T-segment in ECG, is called "cervicogenic angina". The attacks of vertebrogenic chest pain are not rare even in patients with angina pectoris. Because of superimposed vertebrogenic pain, the manifestation of pain in patients with angina pectoris can be considerably changed which can be misinterpreted as unstable angina. From therapeutic aspect it is very important to distinguish vertebrogenic from anginal pain. That is, the change of cardiological therapy will not eliminate possible attacks of vertebrogenic pain in patients with angina pectoris. From the aspect of most recent understandings, the article describes etiopathogenesis, characteristics, diagnosis and therapy of vertebrogenic chest pain, and also the differences between vertebrogenic and anginal pain.

  14. [Piriformis muscle syndrome: etiology, pathogenesis, clinical manifestations, diagnosis, differential diagnosis and therapy].

    Science.gov (United States)

    Grgić, Vjekoslav

    2013-01-01

    variations of PM and SN. In 5-6% of patients with low back pain and/or unilateral sciatica, the pain is caused by PM disorders. PS diagnosis can be made on the basis of anamnesis, clinical picture, clinical examination, EMNG, perisciatic anesthetic block of PM and radiological exams (pelvis/PM MRI; MR neurography of LS plexus and SN). PS therapy includes medicamentous therapy, physical therapy, kynesitherapy, acupuncture, therapeutic perisciatic blocks, botulinum toxin injections and surgical treatment (tenotomy of PM, neurolysis of SN).

  15. Skin Manifestations of Insulin Resistance: From a Biochemical Stance to a Clinical Diagnosis and Management.

    Science.gov (United States)

    González-Saldivar, Gloria; Rodríguez-Gutiérrez, René; Ocampo-Candiani, Jorge; González-González, José Gerardo; Gómez-Flores, Minerva

    2017-03-01

    Worldwide, more than 1.9 billion adults are overweight, and around 600 million people suffer from obesity. Similarly, ~382 million individuals live with diabetes, and 40-50% of the global population is labeled at "high risk" (i.e., prediabetes). The impact of these two chronic conditions relies not only on the burden of illnesses per se (i.e., associated increased morbidity and mortality), but also on their increased cost, burden of treatment, and decreased health-related quality of life. For this review a comprehensive search in several databases including PubMed (MEDLINE), Ovid EMBASE, Web of Science, and Scopus was conducted. In both diabetes and obesity, genetic, epigenetic, and environmental factors overlap and are inclusive rather than exclusive. De facto, 70-80% of the patients with obesity and virtually every patient with type 2 diabetes have insulin resistance. Insulin resistance is a well-known pathophysiologic factor in the development of type 2 diabetes, characteristically appearing years before its diagnosis. The gold standard for insulin resistance diagnosis (the euglycemic insulin clamp) is a complex, invasive, costly, and hence unfeasible test to implement in clinical practice. Likewise, laboratory measures and derived indexes [e.g., homeostasis model assessment of insulin resistance (HOMA-IR-)] are indirect, imprecise, and not highly accurate and reproducible tests. However, skin manifestations of insulin resistance (e.g., acrochordons, acanthosis nigricans, androgenetic alopecia, acne, hirsutism) offer a reliable, straightforward, and real-time way to detect insulin resistance. The objective of this review is to aid clinicians in recognizing skin manifestations of insulin resistance. Diagnosing these skin manifestations accurately may cascade positively in the patient's health by triggering an adequate metabolic evaluation, a timely treatment or referral with the ultimate objective of decreasing diabetes and obesity burden, and improving the

  16. Cutaneous manifestations of antiphospholipid syndrome: a review of the clinical features, diagnosis and management.

    Science.gov (United States)

    Pinto-Almeida, Teresa; Caetano, Mónica; Sanches, Madalena; Selores, Manuela

    2013-01-01

    Antiphospholipid syndrome is a relatively recent systemic autoimmune disorder defined by thrombotic events and/or obstetric complications in the presence of persistent elevated antiphospholipid antibodies. It\\'s characterized by a wide spectrum of clinical presentations and virtually any organ system or tissue may be affected by the consequences of vascular occlusion. Diagnosis is sometimes difficult and although classification criteria have been published and revised there remain ongoing issues regarding nomenclature, expanding clinical features, laboratory tests and management and much still has to be done. Cutaneous manifestations are common and frequently the first sign of the disease. Although extremely diverse it\\'s important to know which dermatological findings should prompt consideration of antiphospholipid syndrome and the appropriate management for those patients. Much has been debated about when to consider antiphospholipid syndrome and consensus still does not exist, however in spite of being a diagnostic challenge clinicians should know when to look for antiphospholipid antibodies since an early diagnosis is important to prevent further and serious complications. In this article we focus on the cutaneous features that should raise suspicion on the presence of antiphospholipid syndrome and on the complex management of such patients. Many other dermatological signs related to this syndrome have been described in the literature but only occasionally and without consistency or statistic impact and therefore will not be considered here.

  17. From Pathogenesis, Clinical Manifestation, and Diagnosis to Treatment: An Overview on Autoimmune Pancreatitis

    Directory of Open Access Journals (Sweden)

    Ou Cai

    2017-01-01

    Full Text Available Autoimmune pancreatitis (AIP is a special type of chronic pancreatitis which is autoimmune mediated. The international consensus diagnostic criteria (ICDC 2011 proposed two types of AIP: type I is associated with histological pattern of lymphoplasmacytic sclerosing pancreatitis (LPSP, characterized by serum IgG4 elevation, whereas type 2 is named idiopathic duct-centric pancreatitis (IDCP, with granulocytic epithelial lesion (GEL and immunoglobulin G4 (IgG4 negative. The pathogenic mechanism is unclear now; based on genetic factors, disease specific or related antigens, innate and adaptive immunity may be involved. The most common clinical manifestations of AIP are obstructive jaundice and upper abdominal pain. The diagnosis can be made by a combination of parenchymal and ductal imaging, serum IgG4 concentrations, pancreatic histology, extrapancreatic disease, and glucocorticoid responsiveness according to ICDC 2011. Because of the clinical and imaging similarities with pancreatic cancer, general work-up should be done carefully to exclude pancreatic malignant tumor before empirical trial of glucocorticoid treatment. Glucocorticoid is the most common drug for AIP to induce remission, while there still exists controversy on steroid maintenance and treatment for relapse. Further studies should be done to identify more specific serum biomarkers for AIP, the pathogenic mechanisms, and the treatment for relapse.

  18. Re-Emergence of Zika Virus: A Review on Pathogenesis, Clinical Manifestations, Diagnosis, Treatment, and Prevention.

    Science.gov (United States)

    Shuaib, Waqas; Stanazai, Hashim; Abazid, Ahmad G; Mattar, Ahmed A

    2016-08-01

    Zika virus (ZKV) is an arbovirus of the Flaviviridae family, which includes West Nile, dengue fever, yellow fever, and Japanese encephalitis virus. It is transmitted by the Aedes genus of mosquitoes. Before 2015, ZKV outbreaks occurred in areas of Africa, the Pacific Islands, and Southeast Asia. The current large outbreak, which began in Brazil, has also emerged throughout a large part of South/Central America, a number of islands in the Caribbean, including Puerto Rico, the Virgin Islands, and Mexico. A sudden rise in the numbers of infants reported born with microcephaly in Brazil, and the detection of the single-stranded positive RNA virus in the amniotic fluid of affected newborns, has captured medical, mainstream media, and global political attention, causing considerable concern in a post-Ebola global community considerably more focused on the threat of internationally transmissible diseases. The goal of this article is to provide an overview of ZKV for clinicians, with the emphasis on pathogenesis, clinical manifestations, diagnosis, and treatment/preventive measures.

  19. Diagnosis and clinical manifestations of calcium pyrophosphate and basic calcium phosphate crystal deposition diseases.

    Science.gov (United States)

    Ea, Hang-Korng; Lioté, Frédéric

    2014-05-01

    Basic calcium phosphate and pyrophosphate calcium crystals are the 2 main calcium-containing crystals that can deposit in all skeletal tissues. These calcium crystals give rise to numerous manifestations, including acute inflammatory attacks that can mimic alarming and threatening differential diagnoses, osteoarthritis-like lesions, destructive arthropathies, and calcific tendinitis. Awareness of uncommon localizations and manifestations such as intraspinal deposition (eg, crowned dens syndrome, tendinitis of longus colli muscle, massive cervical myelopathy compression) prevents inappropriate procedures and cares. Coupling plain radiography, ultrasonography, computed tomography, and synovial fluid analysis allow accurate diagnosis by directly or indirectly identifying the GRAAL of microcrystal-related symptoms.

  20. Oropharyngeal dysphagia: manifestations and diagnosis.

    Science.gov (United States)

    Rommel, Nathalie; Hamdy, Shaheen

    2016-01-01

    Swallowing disorders (dysphagia) have been recognized by the WHO as a medical disability associated with increased morbidity, mortality and costs of care. With increasing survival rates and ageing of the population, swallowing disorders and their role in causing pulmonary and nutritional pathologies are becoming exceedingly important. Over the past two decades, the study of oropharyngeal dysphagia has been approached from various disciplines with considerable progress in understanding its pathophysiology. This Review describes the most frequent manifestations of oropharyngeal dysphagia and the clinical as well as instrumental techniques that are available to diagnose patients with dysphagia. However, the clinical value of these diagnostic tests and their sensitivity to predict outcomes is limited. Despite considerable clinical research efforts, conventional diagnostic methods for oropharyngeal dysphagia have limited proven accuracy in predicting aspiration and respiratory disease. We contend that incorporation of measurable objective assessments into clinical diagnosis is needed and might be key in developing novel therapeutic strategies.

  1. Clinical Manifestations in Individuals with Recent Diagnosis of HTLV Type I Infection

    Science.gov (United States)

    Poetker, Shelene K.W.; Porto, Aurelia F.; Giozza, Silvana P.; Muniz, Andre L.; Caskey, Marina F.; Carvalho, Edgar M.; Glesby, Marshall J.

    2011-01-01

    Background Human T-lymphotropic virus type 1 (HTLV-1) is known to cause HTLV-associated myelopathy (HAM)/tropical spastic paraparesis and adult T cell leukemia. A growing body of evidence links HTLV-1 infection with an increasing spectrum of disease, including uveitis, periodontal disease, arthropathy, sicca syndrome, and neurologic deficits. Objectives Despite recent findings, the natural history of HTLV-1 infection remains poorly defined. This study was designed to better characterize initial clinical and neurological findings in individuals diagnosed with HTLV-1 infection. Study Design We conducted a cross-sectional study of 71 individuals recently diagnosed with HTLV-1 and 71 uninfected age- and sex-matched blood donors in Salvador, Brazil. Subjects were administered a standardized questionnaire and underwent physical exam. Results HTLV-1 infected subjects were significantly more likely than controls to report complaints of hand and foot numbness (OR=5.3; 95% CI: 1.8-15.3; p=0.002 and OR=4.0; 95% CI: 1.3-12; p=0.013 respectively), difficulty running (OR=4.0; 95% CI: 1.1-14.2, p=0.032), nocturia (OR=5.0, 95% CI: 1.1-22.8, p=0.038), arthralgia (OR 3.3, 95% CI: 1.4-7.7, p=0.006), and photophobia (OR 3.3, 95% CI: 1.4-7.7, p=0.006). Conclusions Neurologic, ocular and rheumatologic complaints may be the first manifestations of HTLV-1 infection. Therefore, all patients presenting with initial diagnosis should be rigorously screened for these symptoms. PMID:21388871

  2. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

    Directory of Open Access Journals (Sweden)

    Magoulas Pilar L

    2012-09-01

    Full Text Available Abstract Systemic primary carnitine deficiency (CDSP is an autosomal recessive disorder of carnitine transportation. The clinical manifestations of CDSP can vary widely with respect to age of onset, organ involvement, and severity of symptoms, but are typically characterized by episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia in infants; skeletal myopathy, elevated creatine kinase (CK, and cardiomyopathy in childhood; or cardiomyopathy, arrhythmias, or fatigability in adulthood. The diagnosis can be suspected on newborn screening, but is established by demonstration of low plasma free carnitine concentration (SLC22A5 gene. The incidence of CDSP varies depending on ethnicity; however the frequency in the United States is estimated to be approximately 1 in 50,000 individuals based on newborn screening data. CDSP is caused by recessive mutations in the SLC22A5 gene. This gene encodes organic cation transporter type 2 (OCTN2 which transport carnitine across cell membranes. Over 100 mutations have been reported in this gene with the c.136C > T (p.P46S mutation being the most frequent mutation identified. CDSP should be differentiated from secondary causes of carnitine deficiency such as various organic acidemias and fatty acid oxidation defects. CDSP is an autosomal recessive condition; therefore the recurrence risk in each pregnancy is 25%. Carrier screening for at-risk individuals and family members should be obtained by performing targeted mutation analysis of the SLC22A5 gene since plasma carnitine analysis is not a sufficient methodology for determining carrier status. Antenatal diagnosis for pregnancies at increased risk of CDSP is possible by molecular genetic testing of extracted DNA from chorionic villus sampling or amniocentesis if both mutations in SLC22A5 gene are known. Once the diagnosis of CDSP is established in an individual, an echocardiogram, electrocardiogram, CK concentration

  3. Epidemiology, clinical manifestations, and diagnosis of Chikungunya fever: lessons learned from the re-emerging epidemic.

    Science.gov (United States)

    Mohan, Alladi; Kiran, D H N; Manohar, I Chiranjeevi; Kumar, D Prabath

    2010-01-01

    Chikungunya fever, caused by "Chikungunya virus," is an arbovirus disease transmitted by the bite of infected mosquitoes belonging to the genus Aedes. Chikungunya fever epidemics have been reported from several countries around the world. The disease that was silent for nearly 32 years re-emerged in the October 2005 outbreak in India that is still ongoing. The incubation period ranges from 3 to 12 days. The onset is usually abrupt and the acute stage is characterized by sudden onset with high-grade fever, severe arthralgias, myalgias, and skin rash. Swollen tender joints and crippling arthritis are usually evident. In the chronic stage, relapses that include sensation of fever, asthenia, exacerbation of arthralgias, inflammatory polyarthritis, and stiffness may be evident. Neurological, ocular, and mucocutaneous manifestations have also been described. Chronic arthritis may develop in about 15% of the patients. Viral culture is the gold standard for the diagnosis of Chikungunya fever. Reverse transcription polymerase chain reaction and real-time loop-mediated isothermal amplification have also been found to be useful. Serodiagnostic methods for the detection of immunoglobulin M and immunoglobulin G antibodies against Chikungunya virus are more frequently used. Chikungunya is a self-limiting disease; however, severe manifestations such as meningoencephalitis, fulminant hepatitis, and bleeding manifestations may sometimes be life-threatening. Treatment is symptomatic and supportive. Prevention by educating the community and public health officials, vector control measures appear to be the best approach at controlling Chikungunya fever as no commercially available vaccine is available for public use in India for this condition presently.

  4. Epidemiology, clinical manifestations, and diagnosis of chikungunya fever: Lessons learned from the re-emerging epidemic

    Directory of Open Access Journals (Sweden)

    Mohan Alladi

    2010-01-01

    Full Text Available Chikungunya fever, caused by "Chikungunya virus," is an arbovirus disease transmitted by the bite of infected mosquitoes belonging to the genus Aedes. Chikungunya fever epidemics have been reported from several countries around the world. The disease that was silent for nearly 32 years re-emerged in the October 2005 outbreak in India that is still ongoing. The incubation period ranges from 3 to 12 days. The onset is usually abrupt and the acute stage is characterized by sudden onset with high-grade fever, severe arthralgias, myalgias, and skin rash. Swollen tender joints and crippling arthritis are usually evident. In the chronic stage, relapses that include sensation of fever, asthenia, exacerbation of arthralgias, inflammatory polyarthritis, and stiffness may be evident. Neurological, ocular, and mucocutaneous manifestations have also been described. Chronic arthritis may develop in about 15% of the patients. Viral culture is the gold standard for the diagnosis of Chikungunya fever. Reverse transcription polymerase chain reaction and real-time loop-mediated isothermal amplification have also been found to be useful. Serodiagnostic methods for the detection of immunoglobulin M and immunoglobulin G antibodies against Chikungunya virus are more frequently used. Chikungunya is a self-limiting disease; however, severe manifestations such as meningoencephalitis, fulminant hepatitis, and bleeding manifestations may sometimes be life-threatening. Treatment is symptomatic and supportive. Prevention by educating the community and public health officials, vector control measures appear to be the best approach at controlling Chikungunya fever as no commercially available vaccine is available for public use in India for this condition presently.

  5. COMPARATIVE STUDY OF CLINICAL MANIFESTATION, PLAIN FILM RADIOGRAPHY AND COMPUTED TOMOGRAPHY FOR DIAGNOSIS OF MAXILLOFACIAL TRAUMA

    Directory of Open Access Journals (Sweden)

    Amit

    2014-09-01

    Full Text Available OBJECTIVE: Maxillofacial injuries are one of commonest injuries encountered. Roentgenographic evaluation of maxillofacial trauma is of prime importance for diagnosis and treatment of these injuries. STUDY DESIGN: Forty patients were evaluated in prospective four year study. We studied and evaluated the demography and diagnostic efficacy of clinical, plain radiography, and computed scan in maxillofacial trauma. RESULT: Road traffic accidents were commonest cause of maxillofacial injuries. Patients having multiple fractures, mandibular fractures was commonest. CONCLUSION: Computed tomography proved a useful adjunct in mid facial trauma.

  6. Amalgam tattoo (amalgam pigmentation) of the oral mucosa: clinical manifestations, diagnosis and treatment.

    Science.gov (United States)

    Buchner, A

    2004-07-01

    Amalgam tattoo is an iatrogenic lesion caused by traumatic implantation of dental amalgam into soft tissue. Amalgam tattoo is the most common localized pigmented lesion in the mouth. In a study of a mass screening oral examination in the United States, it was found in about 0.4-0.9% of the adult population and in Sweden in about 8%. Clinically, amalgam tattoo presents as a dark gray or blue, flat macule located adjacent to a restored tooth. Most are located on the gingiva and alveolar mucosa followed by the buccal mucosa and the floor of the mouth. Microscopic examination reveals that amalgam is present in the tissues in two forms: as irregular dark, solid fragments of metal or as numerous, discrete fine, brown or black granules dispersed along collagen bundles and around small blood vessels and nerves. In most lesions, it is presented in both forms. The biologic response to the amalgam is related to particle size, quantity and elemental composition of the amalgam. Large fragments often become surrounded by dense fibrous connective tissue. Smaller particles are associated with mild to moderate chronic inflammatory response with individual macrophages engulfing small amalgam particles. Occasionally, the reaction takes the form of foreign body granuloma in which macrophages and multinucleated giant cells are present. Some of the multinucleated giant cells also contain amalgam particles. Diagnosis of amalgam tattoo is usually obvious from the location and clinical appearance. A radiograph is recommended to confirm the presence of metallic particles, but absence of radiographic evidence does not rule out the possibility, since particles are often too fine or widely dispersed to be visible on radiographs. When there is no radiographic evidence or an adjacent restored tooth, biopsy is recommended to rule out an early melanoma. Once the diagnosis of amalgam tattoo has been established, no additional treatment is necessary except for cosmetic reasons. If the pigmentation

  7. [Andersen-Tawil syndrome: a review of its clinical and genetic diagnosis with emphasis on cardiac manifestations].

    Science.gov (United States)

    Márquez, Manlio F; Totomoch-Serra, Armando; Vargas-Alarcón, Gilberto; Cruz-Robles, David; Pellizzon, Oscar A; Cárdenas, Manuel

    2014-01-01

    The Andersen-Tawil syndrome is a cardiac ion channel disease that is inherited in an autosomal dominant way and is classified as type 7 of the congenital long QT syndromes. Affected gene is KCNJ2, which forms the inward rectifier potassium channel designated Kir2.1. This protein is involved in stabilizing the resting membrane potential and controls the duration of the action potential in skeletal muscle and heart. It also participates in the terminal repolarization phase of the action potential in ventricular myocytes and is a major component responsible for the correction in the potassium current during phase 3 of the action potential repolarization. Kir 2.1 channel has a predominant role in skeletal muscle, heart and brain. Alterations in this channel produce flaccid paralysis, arrhythmias, impaired skeletal development primarily in extremities and facial area. In this review we address the disease from the point of view of clinical and molecular diagnosis with emphasis on cardiac manifestations.

  8. Primary hyperoxaluria type 1: clinical manifestations in infancy and prenatal diagnosis

    DEFF Research Database (Denmark)

    Illum, N; Lavard, L; Danpure, C J;

    1992-01-01

    biopsy demonstrated complete absence of alanine: glyoxylate aminotransferase catalytic activity and immunoreactive protein compatible with a diagnosis of primary hyperoxaluria type 1. He died at the age of 11 months, just before liver transplantation was made possible. Fetal liver biopsy in the mother...... be an early sign of renal damage secondary to accumulation of oxalate crystals....

  9. Diagnosis and clinical manifestations of subacute combined degeneration of the spinal cord:Analysis of 21 cases

    Institute of Scientific and Technical Information of China (English)

    Yanhong Shou; Caifeng Li; Dongsheng Fan; Yang Shen; Jun Zhang; Weizhong Xiao; Shuqing Zhao; Jinsheng Liu; Wei Sui

    2007-01-01

    BACKGROUND: Subacute combined degeneration of the spinal cord is caused by vitamin B12 deficiency and is a kind of degenerative disease owing the characteristics of nervous system diseases. In addition,different patients have variously clinical manifestations and various prognoses after vitamin B12 therapy.OBJECTIVE: To investigate and analyze diagnosis, clinical manifestations and prognosis of subacute combined degeneration of the spinal cord.DESIGN: Case analysis.SETTING: Department of Neurology, the Third Hospital of Peking University.PARTICIPANTS: A total of 21 subacute combined dcgeneration of the spinal cord patients including 14 males and 7 females aged from 33 to 82 years were selected from Department of Neurology, the Third Hospital of Peking University from January 1999 to December 2005. Duration from onset to final diagnosis lasted for 1.5 - 108 months. All patients had typically clinical manifestations; meanwhile, level of serum vitamin B12 was decreased and/or vitamin B12 therapy was effective. All patients provided the confirmed consent.METHODS: Clinical data of 21 subacute combined degeneration of the spinal cord patients were retrospectively analyzed, while general data and clinical characteristics were recorded at the same time.Levels of blood routine, serum vitamin B12 and homocysteine were measured at the phase of hospitalization.Normal value of serum vitamin B12 was 187 - 1 059 ng/L and normal value of serum homocysteine was 5 -15 μ mol/L. All patients received neuroelectrophysiological examination and 15 patients received MRI examinations of spinal cord. After final diagnosis, patients were given vitamin B12 therapy. And follow-up was performed to investigate the prognosis.prognosis.RESULTS: Clinical data of 21 patients and follow-up data of 20 patients were involved in the final analysis typically clinical manifestations. The original symptoms included numbness of lower and/or upper limbs (5 cases), unstable gait (3 cases), limb asthenia (4

  10. Hyposplenism: a comprehensive review. Part II: clinical manifestations, diagnosis, and management.

    Science.gov (United States)

    William, Basem M; Thawani, Nitika; Sae-Tia, Sutthichai; Corazza, Gino R

    2007-04-01

    In the first part of this review, we described the physiological basis of splenic function and hypofunction. We also described the wide spectrum of diseases that can result in functional hyposplenism. In the second part of this review, we will be discussing the clinical picture, including complications, diagnostic methods, and management of hyposplenism.

  11. Emerging fungal infections among children: A review on its clinical manifestations, diagnosis, and prevention.

    Science.gov (United States)

    Jain, Akansha; Jain, Shubham; Rawat, Swati

    2010-10-01

    The incidence of fungal infections is increasing at an alarming rate, presenting an enormous challenge to healthcare professionals. This increase is directly related to the growing population of immunocompromised individuals especially children resulting from changes in medical practice such as the use of intensive chemotherapy and immunosuppressive drugs. Although healthy children have strong natural immunity against fungal infections, then also fungal infection among children are increasing very fast. Virtually not all fungi are pathogenic and their infection is opportunistic. Fungi can occur in the form of yeast, mould, and dimorph. In children fungi can cause superficial infection, i.e., on skin, nails, and hair like oral thrush, candida diaper rash, tinea infections, etc., are various types of superficial fungal infections, subcutaneous fungal infection in tissues under the skin and lastly it causes systemic infection in deeper tissues. Most superficial and subcutaneous fungal infections are easily diagnosed and readily amenable to treatment. Opportunistic fungal infections are those that cause diseases exclusively in immunocompromised individuals, e.g., aspergillosis, zygomycosis, etc. Systemic infections can be life-threatening and are associated with high morbidity and mortality. Because diagnosis is difficult and the causative agent is often confirmed only at autopsy, the exact incidence of systemic infections is difficult to determine. The most frequently encountered pathogens are Candida albicans and Aspergillus spp. But other fungi such as non-albicans Candida spp. are increasingly important.

  12. Emerging fungal infections among children: A review on its clinical manifestations, diagnosis, and prevention

    Directory of Open Access Journals (Sweden)

    Akansha Jain

    2010-01-01

    Full Text Available The incidence of fungal infections is increasing at an alarming rate, presenting an enormous challenge to healthcare professionals. This increase is directly related to the growing population of immunocompromised individuals especially children resulting from changes in medical practice such as the use of intensive chemotherapy and immunosuppressive drugs. Although healthy children have strong natural immunity against fungal infections, then also fungal infection among children are increasing very fast. Virtually not all fungi are pathogenic and their infection is opportunistic. Fungi can occur in the form of yeast, mould, and dimorph. In children fungi can cause superficial infection, i.e., on skin, nails, and hair like oral thrush, candida diaper rash, tinea infections, etc., are various types of superficial fungal infections, subcutaneous fungal infection in tissues under the skin and lastly it causes systemic infection in deeper tissues. Most superficial and subcutaneous fungal infections are easily diagnosed and readily amenable to treatment. Opportunistic fungal infections are those that cause diseases exclusively in immunocompromised individuals, e.g., aspergillosis, zygomycosis, etc. Systemic infections can be life-threatening and are associated with high morbidity and mortality. Because diagnosis is difficult and the causative agent is often confirmed only at autopsy, the exact incidence of systemic infections is difficult to determine. The most frequently encountered pathogens are Candida albicans and Aspergillus spp. But other fungi such as non-albicans Candida spp. are increasingly important.

  13. Cannabinoid hyperemesis syndrome: Clinical diagnosis of an underrecognised manifestation of chronic cannabis abuse

    Institute of Scientific and Technical Information of China (English)

    Siva P Sontineni; Sanjay Chaudhary; Vijaya Sontineni; Stephen J Lanspa

    2009-01-01

    Cannabis is a common drug of abuse that is associated with various long-term and short-term adverse effects.The nature of its association with vomiting after chronic abuse is obscure and is underrecognised by clinicians. In some patients this vomiting can take on a pattern similar to cyclic vomiting syndrome with a peculiar compulsive hot bathing pattern, which relieves intense feelings of nausea and accompanying symptoms. In this case report, we describe a twentytwo year-old-male with a history of chronic cannabis abuse presenting with recurrent vomiting, intense nausea and abdominal pain. In addition, the patient reported that the hot baths improved his symptoms during these episodes. Abstinence from cannabis led to resolution of the vomiting symptoms and abdominal pain. We conclude that in the setting of chronic cannabis abuse, patients presenting with chronic severe nausea and vomiting that can sometimes be accompanied by abdominal pain and compulsive hot bathing behaviour, in the absence of other obvious causes, a diagnosis of cannabinoid hyperemesis syndrome should be considered.

  14. Anthracosis of the lungs: etiology, clinical manifestations and diagnosis: a review.

    Science.gov (United States)

    Mirsadraee, Majid

    2014-01-01

    Anthracosis of the lungs is black discoloration of bronchial mucosa that can occlude bronchial lumen and is associated with bronchial anthracofibrosis (BAF). This disease usually presents with a chronic course of dyspnea and or cough in an elderly non-smoker woman or man. In addition, concomitant exposure to dust and wood smoke is the most postulated etiology for anthracosis. Pulmonary function tests usually show an obstructive pattern with no response to bronchodilators and normal DLCO, but some cases with restrictive pattern have also been seen. Computed tomography (CT) may show more specific findings such as lymph node or bronchial calcification and mass lesions. Final diagnosis can be made by bronchoscopy when obtaining samples for tuberculosis (TB), which is the most common disease associated with BAF. Endobronchial ultrasound shows a hypoechoic scattered nodular pattern in adjacent lymph nodes, which is unique to anthracosis. Treatment is very similar to that of chronic obstructive pulmonary disease (COPD) with a chronic course and low mortality. This review discusses this disease as a separate entity; hence, anthracosis should be added to the list of obstructive lung diseases and benign mass lesions and differentiated from biomass induced COPD.

  15. Non-Hodgkin Lymphoma in Children with Primary Immunodeficiencies: Clinical Manifestations, Diagnosis, and Management, Belarusian Experience

    Directory of Open Access Journals (Sweden)

    Alina Fedorova

    2015-01-01

    Full Text Available Introduction. Non-Hodgkin lymphoma (NHL is the most frequent malignancy associated with primary immune deficiency disease (PID. We aimed to present the clinical characteristics and outcomes of Belarusian children with PID who developed NHL. Procedure. We reviewed 16 patients with PID and NHL. Eight patients had combined PID: 5—Nijmegen breakage syndrome, 1—Bloom syndrome, 1—Wiskott-Aldrich syndrome, and 1—Х-linked lymphoproliferative syndrome. Results. In 75% cases PID was diagnosed simultaneously or after the NHL was confirmed. PID-associated NHL accounted for 5.7% of all NHL and was characterized by younger median age (6.3 versus 10.0 years, P<0.05 and by prevalence of large-cell types (68.8% versus 24.5%, P<0.001. Children with combined PID had median age of 1.3 years; 5 of them developed EBV-associated diffuse large B-cell lymphoma with lung involvement. Five of 6 patients with chromosomal breakage syndrome developed T-NHL. Six patients died of infections; two died after tumor progression; one child had early relapse; two died of second NHL and one of secondary hemophagocytic syndrome. Overall, 4 children are alive and disease-free after a follow-up from 1.4 to 5.7 years. Conclusions. PID needs to be diagnosed early. Individualized chemotherapy, comprehensive supportive treatment, and hematopoietic stem cell transplantation may improve survival of children with PID and NHL.

  16. Laboratory diagnosis, clinical manifestations, epidemiological situation and public health importance of cutaneous leishmaniasis in Shushtar County, Southwestern Iran

    Institute of Scientific and Technical Information of China (English)

    Hamid Kassiri; Ali kassiri; Masoud Lotfi; Parvaneh Farajifard; Elnaz Kassiri

    2014-01-01

    Objective:To investigate as a descriptive and cross sectional study on epidemiology, the laboratory diagnosis and clinical manifestation ofCutaneousLeishmaniasis(CL) inShushtar County.Methods:The investigation was carried out on referrals from different districts of ShushtarCounty and was diagnosed based on their ulcer clinical manifestations withCL using laboratory method.This study was actively developed over the period of2008 to2010.Surface of a clean slide was pressed on to the scraped part of the lesions and moved along to produce a smear on the slide.The slides were fixed with methanol, stained with standardGiemsa, and examined carefully under high magnification for an hour or more to look for amastigotes by a trained person.Two smears were prepared and examined from each patient and data were collected using different correlative patients characteristics to analyze information.The essential records including residential area, type and location of lesion, age, sex, the number of ulcers, season, and the history of traveling to endemic areas for this disease were carefully gathered. Results:Parasites presumed to beLeishmania major (L. major) based on the existence of a large vacuole in the cytoplasm.Totally206 patients were referred to the central laboratory and their manifestation lesions were clinically examined.Of these,64 cases(31.1%) were female and142 cases(68.9%) were male.The findings documented that the rate of incidence ofCL was in fall61 cases(29/6%) and winter80 cases(38/8%), which is one of the most important characteristics of zoonoticCL.Sixty-eight cases(33%) had ulcers on hands,63 cases(30.6%) on feet and30 cases (14.6%) on hands and feet.A total of120 patients(58.3%) had only one ulcer.But70 cases(34%) had2 ulcers.The highest incidence was found among patients with two age groups of20-29 years old(43.2%) and10-19 years old(18%).The most cases resided in rural areas with164 cases(79.6%). Conclusions:Analyzing of the composed results revealed

  17. A gingival manifestation of histoplasmosis leading diagnosis

    Directory of Open Access Journals (Sweden)

    Marco Tullio Brazão-Silva

    2013-01-01

    Full Text Available Histoplasmosis is a world-wide distributed deep mycosis caused by Histoplasma capsulatum which has been endemic in many countries. We present a case involving an immunocompetent man evidencing the necessity of a multidisciplinary approach and rational requisition of exams. The disease has started as a pulmonary disease mimicking tuberculosis, although the exams have been negative. Immunodiffusion test indicate histoplasmosis, not confirmed by culture of sputum. After days the patient was forwarded by a private doctor for evaluation of oral lesions at our Department of Stomatology. An incisional biopsy revealed a nonspecific granulomatous inflammation and the Grocott-Gomori methenamine silver stain identified scarce oval structures that could represent fungal yeast. Sampling oral lesions with swab, it was observed the typical growth of H. capsulatum on culture. This case highlights the importance of doctor′s integration diagnosing histoplasmosis, while a wide spectrum of clinical manifestations should be expected. Oral lesions may be the critical manifestation leading diagnosis.

  18. Difficulties in diagnosis and treatment of adult-onset Still's disease concurrent with pericardial effusion as a leading clinical manifestation

    Directory of Open Access Journals (Sweden)

    V. Yu. Myachikova

    2016-01-01

    Full Text Available The paper considers a case of adult-onset Still's disease that occurred as acute pericarditis, two-spike hectic fever, and neutrophilic leukocytosis in a young man. It was difficult to establish a correct diagnosis because there were no characteristic clinical symptoms of Still's disease, such as salmon colored rash, arthralgia, and sore throat. The diagnosis of adult-onset Still's disease was verified on the basis of the classification criteria described by M. Yamaguchi et al. The special feature of the clinical case was the development of steroid resistance and the effective use of a combination of the interleukin-6 receptor blocker tocilizumab (8 mg/kg body weight, given intravenously dropwise once every four weeks and methotrexate (15 mg/week orally. During this treatment, a sustained clinical and laboratory response was achieved, which could reduce the dose of glucocorticoids to the maintaining one.

  19. Follow-up survey of the prevalence, diagnosis, clinical manifestations and treatment of Spirocerca lupi in South Africa

    Directory of Open Access Journals (Sweden)

    Remo Lobetti

    2014-02-01

    Full Text Available Spirocercosis is an important disease in South Africa. The object of this study was to determine if there had been a change in the prevalence, clinical manifestations and treatment of Spirocerca lupi over a 14-year period. A questionnaire was sent to 577 veterinary practices throughout South Africa in 2012. Of responders, 76% indicated that S. lupi occurred in their area, whilst 24% indicated that it did not; 84% considered S. lupi not to be a new phenomenon, whereas 16% considered it to be new. Monthly or seasonal distribution of the disease was not reported, and 76% of responders reported it to occur in no specific breed of dog, whereas 24% reported a breed risk, most considering large breeds to be at greater risk. No specific age or sex was identified as at higher risk. Common owner complaints were vomiting, weight loss, cough, or regurgitation. Reported clinical findings tended to mirror the clinical signs reported by owners. Most common diagnostic methods used were radiology, endoscopy, faecal flotation, and post mortem examination. Forty-four percent did not report seeing asymptomatic cases, 40% reported asymptomatic cases and 16% did not know. Associated complications were reported by 85% of responders, and included oesophageal neoplasia, hypertrophic osteopathy and acute haemothorax. Four different drugs were used as therapy: doramectin, ivermectin, milbemycin and Advocate®, with 9% of the responders using a combination of these four; 85% considered treatment to be effective and 15% ineffective. Treatment was considered more effective if the disease was diagnosed early and there were no complications. Two important conclusions were that more cases are being seen and that efficacy of therapy has increased, with a decrease in the mortality rate.

  20. Clinical manifestations of bovine leukosis

    Energy Technology Data Exchange (ETDEWEB)

    Sorensen, D.K.

    1979-01-01

    The diagnosis of animals infected with BLV can be accurately identified with the available serologic tests. Diagnosis of animals in the incipient stage of leukosis is extremely difficult and can only be diagnosed by a positive tissue biopsy. Animals with frank tumor involvement can be suspected and diagnosed on a tentative clinical basis on the signs reported. Positive diagnosis must be made on the basis of a biopsy of the tumor or in some cases on a hemotological examination.

  1. Unusual clinical manifestations of leptospirosis

    Directory of Open Access Journals (Sweden)

    Bal A

    2005-01-01

    Full Text Available Leptospirosis has protean clinical manifestations. The classical presentation of the disease is an acute biphasic febrile illness with or without jaundice. Unusual clinical manifestations may result from involvement of pulmonary, cardiovascular, neural, gastrointestinal, ocular and other systems. Immunological phenomena secondary to antigenic mimicry may also be an important component of many clinical features and may be responsible for reactive arthritis. Leptospirosis in early pregnancy may lead to fetal loss. There are a few reports of leptospirosis in HIV- infected individuals but no generalisation can be made due to paucity of data. It is important to bear in mind that leptospiral illness may be a significant component in cases of dual infections or in simultaneous infections with more than two pathogens.

  2. Late-onset ankylosing spondylitis and spondylarthritis: an update on clinical manifestations, differential diagnosis and pharmacological therapies.

    Science.gov (United States)

    Toussirot, Eric

    2010-07-01

    Ankylosing spondylitis (AS) and spondylarthritis (SpA) are generally observed in young male patients but can be diagnosed in the elderly. These cases correspond to late-onset or late-diagnosed AS or SpA. The clinical presentation may be either typical axial disease with a more severe illness compared with young-onset disease, or peripheral oligoarthritis of the lower limbs with pitting oedema (late-onset peripheral spondylarthropathy). New criteria for axial SpA including MRI-determined modifications of the sacroiliac joints may help the clinician with diagnosis. The treatment options for late-onset/-diagnosed AS include the same drugs as those taken by patients with young-onset AS, i.e. NSAIDs, sulfasalazine and anti-tumour necrosis factor (TNF)-alpha agents. Anti-TNFalpha agents are very effective drugs in young-onset AS and SpA. However, the effectiveness and safety of this drug class has not been specifically evaluated in elderly AS/SpA patients, and caution is therefore required with use of these drugs in elderly patients with co-morbidities and/or polypharmacy. In particular, careful evaluation for the risk of infection and cardiovascular events is recommended before initiating anti-TNFalpha agents in this age category. However, safety data from elderly patients with rheumatoid arthritis seem reassuring. With the increasing life expectancy and the new diagnostic modalities for axial (and peripheral) SpA, it is likely that the number of patients (diagnosed) with late-onset AS/SpA will increase. Thus, the clinician must be familiar with the clinical characteristics and particularities of this group of inflammatory rheumatic diseases.

  3. Clinical manifestations of organizing pneumonia

    Directory of Open Access Journals (Sweden)

    Martín Hunter

    2016-12-01

    Full Text Available Organizing pneumonia is a clinical entity asociated with nonspecific symptoms and radiological findings and abnormalities in pulmonary function tests. It is defined by the characteristic histopathological pattern: filling of alveoli and respiratory bronchioles by plugs of granulation tissue. It can be idiopathic (COP or secondary to other causes (SOP. It is an unusual finding and the clinical and radiographic findings are nonspecific. For specific diagnosis an invasive procedure has to be done, but often empirical treatment is started when there's a clinical suspicion. We describe the clinical characteristics of 13 patients with histological diagnosis of organizing pneumonia. Data was obtained from their medical records. The median age was 76 years and the median time to diagnosis from the onset of symptoms was 31 days. In 10 cases the diagnosis was made by transbronchial biopsy. 8 patients required hospitalization, 4 of them received high doses of steroids and 3 required ventilatory support. One patient died from a cause attributable to this entity and 5 relapsed. Dyspnea, cough and fever were the most frequent symptoms. Most patients had more than one tomographic pattern being the most common ground glass opacities and alveolar consolidation. Nine patients were diagnosed with COP and 4 with SOP. The most frequent underlying cause of SOP was drug toxicity. The clinical characteristics of the reported cases are consistent with previously published series. As an interesting feature, there was a group of patients that needed high doses of steroids and ventilatory support.

  4. Hereditary angioedema: imaging manifestations and clinical management.

    Science.gov (United States)

    Gakhal, Mandip S; Marcotte, Gregory V

    2015-02-01

    Hereditary angioedema is a genetic disorder typically related to insufficient or dysfunctional C1-esterase inhibitor. Patients present with episodic swelling of various body parts, such as the face, neck, bowel, genitals, and extremities. Acute or severe symptoms can lead to patients presenting to the emergency room, particularly when the neck and abdominopelvic regions are affected, which is often accompanied by radiologic imaging evaluation. Patients with hereditary angioedema can pose a diagnostic challenge for emergency department physicians and radiologists at initial presentation, and the correct diagnosis may be missed or delayed, due to lack of clinical awareness of the disease or lack of its consideration in the radiologic differential diagnosis. Timely diagnosis of hereditary angioedema and rapid initiation of appropriate therapy can avoid potentially life-threatening complications. This article focuses on the spectrum of common and characteristic acute imaging manifestations of hereditary angioedema and provides an update on important recent developments in its clinical management and treatment.

  5. Clinical manifestations in patients with computerized tomography diagnosis of neurocysticercosis; Manifestacoes clinicas de pacientes com diagnostico de neurocisticercose por tomografia computadorizada

    Energy Technology Data Exchange (ETDEWEB)

    Pfuetzenreiter, Marcia Regina [Universidade do Estado de Santa Catarina (UDESC), Florianopolis, SC (Brazil). Dept. de Medicina Veterinaria Preventiva e Tecnologia]. E-mail: a2mrp@cav.udesc.br; Avila-Pires, Fernando Dias de [Santa Catarina Univ., Florianopolis, SC (Brazil). Dept. de Saude Publica

    1999-09-01

    A survey was conducted in the urban area of Lages using patients who had been submitted to a computed tomography of the skull in the period of March-December, 1996, for different reasons. Forty-two patients with a provisional diagnosis of neurocysticercosis, and 57 negatives were personally interviewed by one of the authors (Pfuetzenreiter), using a semi-structured procedure. More individuals with a provisional diagnostic of neurocysticercosis reported clinical manifestations related to this infection than those found negative. this difference is more marked among women, except in relation to convulsions, more frequently reported by men (19.05%) than by women (7.14%). The greater percentage of inactive forms (83.33%0 and a longer history of perceived symptoms among those positives suggest that the condition is not new. (author)

  6. [Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and genetics].

    Science.gov (United States)

    Preiss, Yudith; Santos, José L; Smalley, Susan V; Maiz, Alberto

    2014-05-01

    Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, caused by genetic deficiency of the 27-hydroxylase enzyme (encoded by CYP27A1). It plays a key role in cholesterol metabolism, especially in bile acid synthesis and in the 25-hydroxylation of vitamin D3 in the liver. Its deficiency causes reduced bile acid synthesis and tissue accumulation of cholestanol. Clinical manifestations are related to the presence of cholestanol deposits and include tendon xanthomas, premature cataracts, chronic diarrhea, progressive neurologic impairment and less frequently coronary heart disease, early onset osteoporosis and abnormalities in the optic disk and retina. An early diagnosis and treatment with quenodeoxycholic acid may prevent further complications, mainly neurological manifestations. This review summarizes cholesterol metabolism related to bile acid synthesis, physiopathology, biochemistry and treatment of cerebrotendinous xanthomatosis.

  7. [Cellulitis: clinical manifestations and management].

    Science.gov (United States)

    Blum, C-L; Menzinger, S; Genné, D

    2013-10-09

    Cellulitis is an acute bacterial non-necrotizing dermal-hypodermal infection predominantly affecting the lower limbs. It is characterised by a circumscribed erythema with a raised border and fever. The predisposing factors are skin wounds, edema from any cause and systemic factors (diabetes, immunosuppression). The diagnosis is clinical and the most common complication is recurrence. Other complications include local abscess, fasciitis and bacteremia. The germ is rarely identified. The majority of infections (85%) is due to group A beta-hemolytic streptococcus. The treatment of cellulitis consists of an association of an antibiotic with rest of the concerned area.

  8. CT Diagnosis and Clinical Manifestations of Chest Malignant Lymphoma%胸部恶性淋巴瘤的CT诊断及临床表现

    Institute of Scientific and Technical Information of China (English)

    阮丽萍

    2015-01-01

    Objective: lymphoma of chest CT diagnosis and clinical manifestations of method retrospective analysis of 43 cases with pathologically proved pulmonary lymphoma clinical and CT (HRCT) data. Results:pulmonary lymphoma CT basic performance can be classified as mass, nodule type;inflammatory alveolar type;bronchial lymph vessels tube type;miliary hematogenous dissemi-nated. According to the performance of the image:mass and nodular type in 18 cases (43%);inflammatory alveolar type in 12 cases (28%), bronchial lymph vessels tube type in 5 cases (accounted for 11%);3 cases of miliary (7%);mixed type in 5 cases (11%), which its mass and nodular type. The most common. Conclusion: lymphoma of chest CT manifestations, but has some characteristics. CT plain scan and multi-phase enhanced scanning is helpful to the diagnosis.%目的:探讨胸部淋巴瘤的CT诊断及临床表现特征.方法:回顾分析43例经病理证实的肺淋巴瘤的临床及CT (部分HRCT)资料.结果:肺淋巴瘤的CT基本表现可以分为肿块、结节型;炎症肺泡型;支气管血管淋巴管型;粟粒型血行播散型.根据影像表现:肿块、结节型18例(占43%);炎症肺泡型12例(占28%),支气管血管淋巴管型5例(占11%);粟粒型3例(占7%);混合型5例(占11%),其中以肿块结节型最多见.结论:胸部淋巴瘤的CT表现形式多样,但具有一定特征性,CT平扫及多期增强扫描有助于诊断.

  9. Clinical manifestation of myeloperoxidase deficiency.

    Science.gov (United States)

    Lanza, F

    1998-09-01

    Myeloperoxidase (MPO), an iron-containing heme protein localized in the azurophilic granules of neutrophil granulocytes and in the lysosomes of monocytes, is involved in the killing of several micro-organisms and foreign cells, including bacteria, fungi, viruses, red cells, and malignant and nonmalignant nucleated cells. Despite the primary role of the oxygen-dependent MPO system in the destruction of certain phagocytosed microbes, subjects with total or partial MPO deficiency generally do not have an increased frequency of infections, probably because other MPO-independent mechanism(s) for microbicidal activity compensate for the lack of MPO. Infectious diseases, especially with species of Candida, have been observed predominantly in MPO-deficient patients who also have diabetes mellitus, but the frequency of such cases is very low, less than 5% of reported MPO-deficient subjects. Evidence from a number of investigators indicates that individuals with total MPO deficiency show a high incidence of malignant tumors. Since MPO-deficient PMNs exhibit in vitro a depressed lytic action against malignant human cells, it can be speculated that the neutrophil MPO system plays a central role in the tumor surveillance of the host. However, any definitive conclusion on the association between MPO deficiency and the occurrence of cancers needs to be confirmed in further clinical studies. Clinical manifestations of this disorder depend on the nature of the defect; an acquired abnormality associated with other hematological or nonhematological diseases has been occasionally described, but the primary deficiency is the form more commonly reported. Another area of interest pertinent to MPO expression is related to the use of anti-MPO monoclonal antibodies for the lineage assignment of acute leukemic cells, the definition of FAB MO acute myeloid leukemia, the identification of biphenotypic acute leukemias, and their distinction from acute leukemia with minimal phenotypic deviation

  10. Clinical manifestations of sleep apnea

    OpenAIRE

    Stansbury, Robert C.; Strollo, Patrick J.

    2015-01-01

    Obstructive sleep apnea (OSA) may manifest in a number of ways from subtle intrusion into daily life to profound sleepiness, snoring, witnessed apneas and other classic symptoms. Although there is increasing evidence suggesting OSA can adversely affect health in a variety of ways, this disorder remains underdiagnosed. The most well-escribed health consequences of OSA relate to the cardiovascular system. Hypertension and arrhythmias have a strong association with OSA, and evidence suggests tha...

  11. Clinical manifestations of sleep apnea.

    Science.gov (United States)

    Stansbury, Robert C; Strollo, Patrick J

    2015-09-01

    Obstructive sleep apnea (OSA) may manifest in a number of ways from subtle intrusion into daily life to profound sleepiness, snoring, witnessed apneas and other classic symptoms. Although there is increasing evidence suggesting OSA can adversely affect health in a variety of ways, this disorder remains underdiagnosed. The most well-escribed health consequences of OSA relate to the cardiovascular system. Hypertension and arrhythmias have a strong association with OSA, and evidence suggests that treatment of OSA in patients with refractory hypertension and in patients planning cardioversion for atrial fibrillation may be of particularly importance. Significant associations between heart failure and OSA as well as complex sleep apnea have also been well-described. Cerebrovascular insult, impaired neurocognition, and poorly controlled mood disorder are also associated with in OSA. Therapy for OSA may ameliorate atherosclerotic progression and improve outcomes post-cerebrovascular accident (CVA). OSA should be considered in patients complaining of poor concentration at work, actual or near-miss motor vehicle accidents, and patients with severe sleepiness as a component of their co-morbid mood disorders. The metabolic impact of OSA has also been studied, particularly in relation to glucose homeostasis. Also of interest is the potential impact OSA has on lipid metabolism. The adverse effect untreated OSA has on glucose tolerance and lipid levels has led to the suggestion that OSA is yet another constituent of the metabolic syndrome. Some of these metabolic derangements may be related to the adverse effects untreated OSA has on hepatic health. The cardiovascular, neurocognitive, and metabolic manifestations of OSA can have a significant impact on patient health and quality of life. In many instances, evidence exists that therapy not only improves outcomes in general, but also modifies the severity of co-morbid disease. To mitigate the long-term sequela of this disease

  12. [Hemolytic uremic syndrome. Clinical manifestations. Treatment].

    Science.gov (United States)

    Exeni, Ramón A

    2006-01-01

    Clinical manifestation are described in children with epidemic HUS. The intestinal involvement in the prodromic period, is outlined and the most common disturbances such acute renal failure, thrombocytopenia, hemolytic anemia, leucocitosis hypertension, neurological, pancreatic and cardiac manifestations are described. We discuss the acid-base and electrolyte disturbances, metabolic acidosis, hyponatremia, hyperkalemia. The etiopathogenic treatment and the control of renal sequelae are also discussed.

  13. Clinical diagnosis value of CT manifestations for pulmonary fungal infections%CT表现对肺部真菌感染的临床诊断价值

    Institute of Scientific and Technical Information of China (English)

    贾策; 杨文鹃

    2012-01-01

    OBJECTIVE To probe into the clinical diagnosis value of CT manifestations for pulmonary fungal infections. METHODS From Jan. 2006 to Sep. 2011, 48 cases with pulmonary fungal infections in our hospital were selected for our study. All the patients underwent routine supine chest CT scan. The shapes and types of pulmonary lesions were statistically analyzed, and the relationship between CT classification and underlying diseases was analyzed. RESULTS CT imaging findings in 48 patients included diffuse, aspergilloma, consolidation and nodular. Diffuse were found in 19 cases, accounting for 39. 6%; aspergilloma in 13 cases, accounting for 27. 1% ; consolidation in 12 cases, accounting for 25. 0% t nodules in 4 cases, accounting for 8. 3%. In addition, for tuberculosis patients, CT images were mainly diffuse (63. 6%). For chronic bronchiectasis patients, CT images were mainly aspergilloma (72. 73%). For diabetic patients, CT images were mainly solidvariant (66. 7%) and nodules (33. 3%). For lung cancer patients, CT images were mainly diffuse (75. 0%). For HIV-infected patients, CT images were mainly diffuse (50. 0%) and consolidation(50. 0%). For patients without underlying diseases, CT images were dispersed. CONCLUSION CT images are of clinical diagnosis values for pulmonary fungal infections in patients and have certain characteristics.%目的 探讨CT影像学表现对肺部真菌感染患者临床诊断的价值.方法 选择2006年1月-2011年9月医院肺部真菌感染病例48例,所有患者均行胸部常规仰卧位CT平扫,对所有患者肺内病灶的形态及分型情况进行统计分析,并分析不同基础疾病与CT分型的关系.结果 48例患者CT影像表现主要分为弥散型、曲菌球型、实变型和结节型,其中弥散型19例,占39.6%;曲菌球型13例,占27.1%;实变型12例,占25.0%;结节型4例,占8.3%;另外,对于肺结核患者,CT影像主要为弥散型占63.6%;对于慢性支气管扩张患

  14. Eosinophilic esophagitis: clinical manifestations, diagnosis, and treatment Esofagitis eosinofílica: clínica, diagnóstico y tratamiento

    Directory of Open Access Journals (Sweden)

    A. J. Lucendo Villarín

    2009-01-01

    Full Text Available Eosinophilic esophagitis (EE is a chronic inflammatory, immunoallergic disease of the esophagus that represents the most common eosinophilic gut disease. Understanding and diagnosis regarding this condition have greatly increased in recent years, particularly in Europe and North America, in parallel with other allergic disorders. It consists of dense esophageal infiltration with eosinophils in the absence of gastro-esophageal reflux (GER. It involves individuals at all ages, and is particularly common in males during childhood and up to the 5th decade of life. It manifests with chronic, intermittent esophageal symptoms that predominantly include dysphagia, food impaction episodes, and GER-attributable complaints that do not respond to antisecretory therapy. Endoscopically, EE is a polymorphous disease that presents with various changes in esophageal caliber, and subtle changes in mucosal appearance, which lead to biopsy collection as a key procedure for diagnosis. Management must be multidisciplinary, including gastroenterologists, pathologists, allergologists, and also nutrition specialists in pediatric cases. Regarding therapy, dietary food restrictions are especially useful in the management of pediatric EE, but effectiveness is lower in the adult, maybe because of a greater involvement of air allergens. Drug use is standard, particularly involving topical steroids, which may revert manifestations and histological lesions, even though recurrence following discontinuation is common.

  15. Scrub typhus:pathophysiology, clinical manifestations and prognosis

    Institute of Scientific and Technical Information of China (English)

    Senaka Rajapakse; Chaturaka Rodrigo; Deepika Fernando

    2012-01-01

    ABSTRACT Scrub typhus is a zoonosis caused by the pathogenOrientia tsutsugamushi (O. tsutsugamushi). The disease has significant prevalence in eastern and Southeast Asia. Usually presenting as an acute febrile illness, the diagnosis is often missed because of similarities with other tropical febrile infections. Many unusual manifestations are present, and these are described in this review, together with an outline of current knowledge of pathophysiology. Awareness of these unusual clinical manifestations will help the clinician to arrive at an early diagnosis, resulting in early administration of appropriate antibiotics. Prognostic indicators for severe disease have not yet been clearly established.

  16. Chloracne. Clinical manifestations and etiology

    Energy Technology Data Exchange (ETDEWEB)

    Zugerman, C. (Northwestern Univ., Chicago, IL (USA))

    1990-01-01

    Chloracne is a rare but important acneiform eruption often associated with the ingestion of chlorinated phenolic agents such as dioxins with subsequent toxicity from these chemicals. Clinically, chloracne can be distinguished from acne vulgaris by the distribution and appearance of the lesions and by taking a detailed history. In some instances, it may be associated with particularly xerotic skin, pigmentation, follicular hyperkeratosis, conjunctivitis, and actinic elastosis. Histologically, the primary lesion is a follicular plug containing keratinous material. Chloracne is difficult if not impossible to treat adequately and once present, may persist for years. Consequently, good hygiene, safe manufacturing processes so that no inhalation or skin contact is possible, and the elimination of atmospheric contamination are all necessary in the prevention of this potentially debilitating disease.34 references.

  17. [Lyme disease--clinical manifestations and treatment].

    Science.gov (United States)

    Stock, Ingo

    2016-05-01

    Lyme disease (Lyme borreliosis) is a systemic infectious disease that can present in a variety of clinical manifestations. The disease is caused by a group of spirochaetes--Borrelia burgdorferi sensu lato or Lyme borrelia--that are transmitted to humans by the bite of Ixodes ticks. Lyme disease is the most common arthropode-borne infectious disease in many European countries including Germany. Early localized infection is typically manifested by an erythema migrans skin lesion, in rarer cases as a borrelial lymphocytoma. The most common early disseminated manifestation is (early) neuroborreliosis. In adults, neuroborreliosis appears typically as meningoradiculoneuritis. Neuroborreliosis in children, however, is typically manifested by meningitis. In addition, multiple erythema migrans lesions and Lyme carditis occur relatively frequently. The most common manifestation oflate Lyme disease is Lyme arthritis. Early manifestations (and usually also late manifestations) of Lyme disease can be treated successfully by application of suitable antibacterial agents. For the treatment of Lyme disease, doxycycline, certain penicillins such as amoxicillin and some cephalosporins (ceftriaxone, cefotaxime, cefuroxime axetil) are recommended in current guidelines. A major challenge is the treatment of chronic, non-specific disorders, i. e., posttreatment Lyme disease syndrome and "chronic Lyme disease". Prevention of Lyme disease is mainly accomplished by protecting against tick bites. Prophylactic administration of doxycycline after tick bites is generally not recommended in Germany. There is no vaccine available for human beings.

  18. Clinical Manifestations of the Opiate Withdrawal Syndrome

    Directory of Open Access Journals (Sweden)

    Faniya Shigakova

    2015-09-01

    Full Text Available Currently, substance abuse is one of the most serious problems facing our society. The aim of this study was to investigate the clinical manifestations of the opiate withdrawal syndrome (OWS. The study included 112 patients (57 women and 55 men aged from 18 to 64 years with opium addiction according to the DSM-IV. To study the clinical manifestation of OWS, the special 25-score scale with four sections to assess severity of sleep disorders, pain syndrome, autonomic disorders, and affective symptoms was used. Given the diversity of the OWS symptoms, attention was focused on three clinical variants, affective, algic and mixed. The OWS affective variant was registered more frequently in women, while the mixed type of OWS was more typical of men.

  19. First clinical manifestation of Brugada syndrome during pregnancy.

    Science.gov (United States)

    Prochnau, Dirk; Figulla, Hans R; Surber, Ralf

    2013-09-01

    The role of hormonal changes during pregnancy in Brugada syndrome is unknown. Only rare case reports of Brugada syndrome during pregnancy have been published. In this article, we describe a patient with first clinical manifestation of Brugada syndrome during pregnancy. The definitive diagnosis could only be achieved by drug challenge with ajmaline after childbirth because the spontaneous typical Brugada-like pattern was absent. Elevated hormone levels during pregnancy may increase the risk for arrhythmias in particular cases.

  20. Hepatitis A: clinical manifestations and management.

    Science.gov (United States)

    Jeong, Sook-Hyang; Lee, Hyo-Suk

    2010-01-01

    Due to improved living conditions and subsequent changes in hepatitis A epidemiology, the disease burden of hepatitis A is increasing in many regions. Recently, Korea has faced a large, community-wide outbreak of hepatitis A, which has prompted a vaccination program. The clinical spectrum of hepatitis A virus infection ranges from asymptomatic infection to fulminant hepatitis. Clinical manifestations depend on the age of the host: less than 30% of infected young children are symptomatic, while about 80% of infected adults manifest severe hepatitis with remarkably elevated serum aminotransferases. Fulminant hepatitis is rare, with a reported incidence from 0.015 to 0.5%. Atypical manifestations include relapsing hepatitis and prolonged cholestasis, and complicated cases with acute kidney injury have been reported. Extrahepatic manifestations, such as autoimmune hemolytic anemia, aplastic anemia, pure red cell aplasia, pleural or pericardial effusion, acute reactive arthritis, acute pancreatitis, acalculous cholecystitis, mononeuritis, and Guillain-Barré syndrome, have been rarely reported. Management of hepatitis A includes general supportive care, and critical decisions regarding liver transplantation await further studies on prognostic predictors. Fundamental management of hepatitis A is active vaccination. However, a vaccination program should be adapted to the regional situation, according to differing epidemiology and disease burden.

  1. Extraintestinal manifestations of inflammatory bowel disease: epidemiology, diagnosis, and management

    DEFF Research Database (Denmark)

    Larsen, Signe; Bendtzen, Klaus; Nielsen, Ole Haagen

    2010-01-01

    Abstract Extraintestinal manifestations occur rather frequently in inflammatory bowel disease (IBD), e.g. ulcerative colitis (UC) and Crohn's disease (CD). The present paper provides an overview of the epidemiology, clinical characteristics, diagnostic process, and management of rheumatic, metabo...

  2. 埃博拉病毒病的临床特点与诊疗策略%Clinical manifestations, diagnosis and treatment of Ebola virus disease

    Institute of Scientific and Technical Information of China (English)

    周飞虎; 毛智

    2015-01-01

    2014年西非埃博拉病毒病疫情是有记录以来最严重的一次,其死亡率最高可达90%.埃博拉病毒病主要临床特点是非特异性病毒症状、暴发性脓毒症休克和凝血功能障碍.目前为止尚无获准上市的疫苗和有效的抗病毒药物;早期发现、立即有效隔离和充分支持治疗是埃博拉病毒病的主要治疗策略.现从临床特征、诊断及治疗等方面探讨埃博拉病毒病的诊治特点.%The 2014 West Africa Ebola virus disease (EVD) outbreak is the largest one ever recorded with a case fatality of up to 90%. EVD is characterized by nonspecific viral syndrome followed by fulminant septic shock and coagulation disorders. There is no effective drug or licensed vaccine. Early recognition of infection, effective isolation and best available supportive care are main therapeutic strategies. This article provides a review of the clinical characteristics, diagnosis and treatments of EVD.

  3. Antiphospholipid antibody: laboratory, pathogenesis and clinical manifestations

    Directory of Open Access Journals (Sweden)

    T. Ziglioli

    2011-06-01

    Full Text Available Antiphospholipid antibodies (aPL represent a heterogeneous group of antibodies that recognize various antigenic targets including beta2 glycoprotein I (β2GPI, prothrombin (PT, activated protein C, tissue plasminogen activator, plasmin and annexin A2. The most commonly used tests to detect aPL are: lupus anticoagulant (LAC, a functional coagulation assay, anticardiolipin antibody (aCL and anti-β2GPI antibody (anti-β2GPI, which are enzyme-linked immunoassay (ELISA. Clinically aPL are associated with thrombosis and/or with pregnancy morbidity. Apparently aPL alone are unable to induce thrombotic manifestations, but they increase the risk of vascular events that can occur in the presence of another thrombophilic condition; on the other hand obstetrical manifestations were shown to be associated not only to thrombosis but mainly to a direct antibody effect on the trophoblast.

  4. Diagnosis and treatment of HIV-associated manifestations in otolaryngology

    Directory of Open Access Journals (Sweden)

    Emily Iacovou

    2012-01-01

    Full Text Available Almost 30 years after its first description, HIV still remains a global pandemic. The present paper aims to review the current knowledge on the ear, nose and throat (ENT manifestations of HIV infection, and present the available diagnostic and treatment options. A literature review was conducted in Medline and other available database sources. Information from related books was also included in the data analysis. It is well acknowledged that up to 80% of HIV-infected patients eventually develop ENT manifestations; among which, oral disease appears to be the most common. Oro-pharyngeal manifestations include candidiasis, periodontal and gingival disease, HSV and HPV infection, oral hairy leucoplakia, Kaposi’s sarcoma, and non- Hodgkin’s lymphoma. ENT manifestations in the neck can present as cervical lymphadenopathy or parotid gland enlargement. Respective nasal manifestations include sinusitis (often due to atypical bacteria, and allergic rhinitis. Finally, otological manifestations include otitis (externa, or media, inner ear involvement (sensorineural hearing loss, disequilibrium, and facial nerve palsy (up to 100 times more frequently compared to the general population. Although ENT symptoms are not diagnostic of the disease, they might be suggestive of HIV infection, or related to its progression and the respective treatment failure. ENT doctors should be aware of the ENT manifestations associated with HIV disease, and the respective diagnosis and treatment. A multi-disciplinary approach may be required to provide the appropriate level of care to HIV patients.

  5. 眼眶复发性皮样囊肿的临床特征与治疗%Clinical manifestations, diagnosis and management of recurrent orbital dermoid cysts

    Institute of Scientific and Technical Information of China (English)

    王毅; 赵海萍; 朱慧; 李月月; 肖利华

    2010-01-01

    目的 总结复发性皮样囊肿的临床特征及诊治方法.方法 回顾性系列病例研究.收集30例经病理学确诊的复发性皮样囊肿患者资料,总结病史特点、复发因素、临床表现及影像学征象、治疗与预后.结果 患者初次手术距最后就诊时间间隔1个月至36.0年,中位数时间2.5年.既往有1、2、3次手术史的例数分别为:20例、9例及1例.特征性临床表现有:眶周肿物,伴红肿及触痛16例;眶周皮肤瘘管4例;上睑皮肤与眶缘骨膜粘连,眼睑外翻4例.常见导致复发的因素有:部分切除囊壁或未清理残存在眶骨缝中的囊壁16例;误诊为皮下肿物盲目手术11例;术前未行影像学检查8例等.所有患者行CT检查,显示囊肿可呈低或中等密度,常见征象有:囊肿发生在颧额缝附近,呈哑铃形8例,骨内隧道盲端细长迂曲6例,眶壁大面积骨质呈波浪状压迹6例.28例行手术治疗,彻底清除囊壁和内容物后,随访1至9年,均无再次复发,保守观察2例,所有患者无严重并发症.结论 眼眶皮样囊肿复发与术者经验不足、手术不彻底等因素有关,具有典型的临床表现和影像学特征.根据影像学检查精确定位,术中综合运用多种手术技巧,可有效避免复发.%Objective To evaluate the clinical features,diagnostic methods and treatment of recurrent orbital dermoid cysts.Methods In a retrospective study,the records of 30 consecutive cases with recurrent orbital dermoid cyst confirmed by pathologic examination were analyzed with special attention to the case histories,recurrent factors,clinical manifestations,imaging findings,treatment and prognosis.Results In the present series,the interval from first appearance in our institute to the operation ranged from 1 month to 36 years,with a median of 2.5 years.Once,twice and three times of operation history were noted in 20 cases,9 cases and 1 case,respectively.The clinical characteristics included:periorbital masses

  6. Clinical and radiological manifestations of paraneoplastic syndrome of bronchogenic carcinoma

    Directory of Open Access Journals (Sweden)

    Goldner Branislav

    2005-01-01

    Full Text Available The objective of this study was to present some clinical and radiological manifestations of PNS in relation to bronchogenic carcinoma (BC and to evaluate the usefulness of imaging findings in the diagnosis of asymptomatic BC. In the study group of 204 patients (146 male and 58 female with proven bronchogenic carcinoma, PNS was present in 18 (8.62% patients. The patients with PNS were divided into two groups. The first one consisted of 13 (72.2% patients with symptoms related to primary tumours while the second one consisted of 5 (27.7% patients with symptoms, at initial appearance, indicative of disorders of other organs and systems. The predominant disorder was Lambert-Eaton Syndrome, associated with small-cell carcinoma. Endocrine manifestations included: inappropriate antidiuretic hormone production syndrome (small-cell carcinoma, a gonadotropin effect with gynaecomastia and testicular atrophy (planocellular carcinoma, small-cell carcinoma, a case of Cushing Syndrome (small-cell carcinoma, and hyper-calcaemia, due to the production of the parathyroid hormone-related peptide, which was associated with planocellular carcinoma. A rare case of bilateral exophthalmos was found as PNS at adenocarcinoma. Digital clubbing and hypertrophic osteoarthropathy (HO were associated with planocellular and adenocarcinoma, while clubbing was much more common than HO, especially among women. The differences between the two groups were related to the time of PNS appearance. In the first group, PNS occurred late on in the illness, while in the second group, PNS preceded the diagnosis of BC. Alternatively, the disappearance of a clinical or a radiological manifestation of PNS after surgery or chemotherapy may be an indicator of an improvement in health or PNS may be the first sign of illness recurrence. Radiological manifestations of PNS in asymptomatic patients may serve as a useful screen for identifying primary BC. In symptomatic patients, it may be an

  7. Clinical manifestation, imageological and pathological characteristics of Wernicke encephalopathy

    Institute of Scientific and Technical Information of China (English)

    Shunchang Han; Chuanqiang Pu; Qiuping Gui; Xusheng Huang; Senyang Lang; Weiping Wu; Peifu Wang

    2006-01-01

    BACKGROUND: The clinical manifestations of Wernicke encephalopathy(WE) are atypical and short of effective auxiliary examination means. The effects of magnetic resonance imaging (MRI) in the diagnosis of WE have been reported suecessively. But its imageological detection needs to be further investigated.OBJECTIVE: To analyze the eharacteristics of clinical manifestations, skull MRI examination and pathological results in patients with WE.DESTGN: Retrospective analysis.SETTTNG: The General Hospital of Chinese PLA.PARTTCTPANTS: Ten patients of WE admitted to the Department of Neurology, General Hospital of Chinese PLA were recruited. Among them, five patients were diagnosed pathologically after death. Their pathological changes accorded with the pathological characteristics of WE. The other 5 patients were diagnosed clinically before death. Their pathological changes accorded with clinical and imageological manifestations and had definite reaction to the treatment of thiamine. Ten patients, 7 males and 3 females, were aged (47±13) years ranging from 33 to 73 years. Their disease courses averaged 6 weeks ranging from 3 to 10 weeks. They all were non-alcoholics. Four patients developed WE after acute pancreatitis, two patients after the recurrence of gastric cancer, two patients after cholecystectomy, one patient after hepatitis medicamentosa, one patient after Alzheimer disease. Informed consents were obtained from all the patients and their relatives.METHODS: After admission, clinical manifestations of patients were observed and recorded. Five patients underwent skull MRI examination and their detected results were recorded. Five dead patients underwent autopsy and brain pathological examinations. Neuropathological examination involved cerebrum, cerebellum and brain stem.MATN OUTCOME MEASURES: Clinical manifestations, MRI examination results, pathological analysis results and prognosis of all the patients.RESULTS: Ten patients with WE were involved in the final

  8. Clinical manifestations of primary syphilis in homosexual men

    Directory of Open Access Journals (Sweden)

    Milan Bjekić

    2012-08-01

    Full Text Available At the beginning of a new millennium, syphilis incidence has been increasing worldwide, occurring primarily among men who have sex with men (MSM. The clinical features of primary syphilis among MSM is described, a case-note review of the primary syphilis (PS patients who attended the Institute of Skin and Venereal Diseases. The diagnosis was assessed based upon the clinical features and positive syphilis serology tests. Among 25 patients with early syphilis referred during 2010, PS was diagnosed in a total of 13 cases. In all patients, unprotected oral sex was the only possible route of transmission, and two out of 13 patients had HIV co-infection. Overall, 77% of men presented with atypical penile manifestation. The VDRL test was positive with low titers. The numerous atypical clinical presentations of PS emphasize the importance of continuing education of non-experienced physicians, especially in countries with lower reported incidence of syphilis.

  9. Clinical Features and Extraintestinal Manifestations of Crohn Disease in Children

    Science.gov (United States)

    Lee, Young Ah; Chun, Peter; Hwang, Eun Ha; Mun, Sang Wook; Lee, Yeoun Joo

    2016-01-01

    Purpose The aim of this study was to investigate the clinical features and extraintestinal manifestations (EIMs) of Crohn disease (CD) in Korean pediatric patients. Methods The medical records of 73 children diagnosed with CD were retrospectively reviewed. Data regarding baseline demographic and clinical characteristics, including CD phenotype at diagnosis based on the Montreal classification, and clinical features and course of EIMs were investigated. Results Fifty-two (71.2%) of the patients were males. The mean age of the patients was 12.5 years. The mean follow-up period was 3.4 years. The disease location was ileal in 3 (4.1%) of the patients, colonic in 13 (17.8%), ileocolonic in 56 (76.7%). The clinical behavior was inflammatory in 62 (84.9%) of the patients, stricturing in 8 (11.0%), and penetrating in 3 (4.1%). Perianal abscesses or fistulas were found in 37 (50.7%) of the patients. EIMs observed during the study period were anal skin tag in 25 patients (34.2%), hypertransaminasemia in 20 (27.4%), peripheral arthritis in 2 (2.7%), erythema nodosum in 2 (2.7%), vulvitis in 1 (1.4%), uveitis in 1 (1.4%), and pulmonary thromboembolism in 1 (1.4%). Conclusion Perianal diseases and manifestations were present in more than half of Korean pediatric CD patients at diagnosis. Inspection of the anus should be mandatory in Korean children with suspicious CD, as perianal fistulas, abscesses, and anal skin tags may be the first clue to the diagnosis of CD. PMID:28090468

  10. Hypertonicity: Clinical entities, manifestations and treatment

    Science.gov (United States)

    Rondon-Berrios, Helbert; Argyropoulos, Christos; Ing, Todd S; Raj, Dominic S; Malhotra, Deepak; Agaba, Emmanuel I; Rohrscheib, Mark; Khitan, Zeid J; Murata, Glen H; Shapiro, Joseph I; Tzamaloukas, Antonios H

    2017-01-01

    Hypertonicity causes severe clinical manifestations and is associated with mortality and severe short-term and long-term neurological sequelae. The main clinical syndromes of hypertonicity are hypernatremia and hyperglycemia. Hypernatremia results from relative excess of body sodium over body water. Loss of water in excess of intake, gain of sodium salts in excess of losses or a combination of the two are the main mechanisms of hypernatremia. Hypernatremia can be hypervolemic, euvolemic or hypovolemic. The management of hypernatremia addresses both a quantitative replacement of water and, if present, sodium deficit, and correction of the underlying pathophysiologic process that led to hypernatremia. Hypertonicity in hyperglycemia has two components, solute gain secondary to glucose accumulation in the extracellular compartment and water loss through hyperglycemic osmotic diuresis in excess of the losses of sodium and potassium. Differentiating between these two components of hypertonicity has major therapeutic implications because the first component will be reversed simply by normalization of serum glucose concentration while the second component will require hypotonic fluid replacement. An estimate of the magnitude of the relative water deficit secondary to osmotic diuresis is obtained by the corrected sodium concentration, which represents a calculated value of the serum sodium concentration that would result from reduction of the serum glucose concentration to a normal level. PMID:28101446

  11. Monogenic autoinflammatory diseases: concept and clinical manifestations.

    Science.gov (United States)

    Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela

    2013-06-01

    The objective of this review is to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) and 6. very rare conditions presenting with autoinflammation and immunodeficiency.

  12. Analysis of clinical manifestations of symptomatic acquired jejunoileal diverticular disease

    Institute of Scientific and Technical Information of China (English)

    Chia-Yuan Liu; Wen-Hsiung Chang; Shee-Chan Lin; Cheng-Hsin Chu; Tsang-En Wang; Shou-Chuan Shih

    2005-01-01

    AIM: To analyze systematically our experience over 22 years with symptomatic acquired diverticular disease of the jejunum and ileum, exploring the clinical manifestations and diagnosis of this rare but life-threatening disease.METHODS: The medical records of patients with surgically confirmed symptomatic jejunoileal diverticular disease were retrospectively reviewed. Data collected included demographic data, laboratory results, clinical course (acute or chronic), preoperative diagnosis, and operative findings. Inclusion criteria were as follows: (1) surgical confirmation of jejunoileal diverticular disease and (2)exclusion of congenital diverticula (e.g. Meckel's diverticulum).RESULTS: From January 1982 to July 2004, 28 patients with a total of 29 operations met the study criteria. The male:female ratio was 14:14, and the mean age was 62.6±3.5 years. The most common manifestation was abdominal pain. In nearly half of the patients, the symptoms were chronic. Two patients died after surgery. Only four cases were correctly diagnosed prior to surgery, three by small bowel series.CONCLUSION: Symptomatic acquired small bowel diverticular disease is difficult to diagnose. It should be considered in older patients with unexplained chronic abdominal symptoms. A small bowel series may be helpful in diagnosing this potentially life-threatening disease.

  13. Leptospirosis: epidemiology, clinical aspects and diagnosis

    NARCIS (Netherlands)

    M.G.A. Goris (Marga)

    2016-01-01

    markdownabstractLeptospirosis is among the most widespread zoonotic diseases in the world. The clinical manifestations of the disease are not specific, can vary widely and therefore are consistent with many other diseases. A diagnosis can only be confirmed with certainty by laboratory tests. Infecti

  14. Extraintestinal manifestations of inflammatory bowel disease: epidemiology, diagnosis, and management

    DEFF Research Database (Denmark)

    Larsen, Signe; Bendtzen, Klaus; Nielsen, Ole Haagen

    2010-01-01

    ', 'bronchiectasis', 'bronchitis', 'cutaneous manifestations', 'erythema nodosum', 'extraintestinal manifestations', 'hyperhomocysteinemia', 'infliximab', 'iridocyclitis', 'lung disease', 'ocular manifestations', 'osteomalacia', 'pancreatitis', 'primary sclerosing cholangitis', 'renal stones', 'sulfasalazine...

  15. [Dementia: clinic and diagnosis].

    Science.gov (United States)

    Estol, C J

    2001-12-01

    Decline of the cognitive functions necessary for activities of daily living results in a spectrum ranging from benign forgetfulness and minimal cognitive impairment to dementia. The latter is characterized by personality and behavioral changes. Alzheimer's disease is the most frequent cause of dementia affecting almost one of two people older than 80 years. Lewy body and cerebrovascular disease are also frequent causes of cognitive decline. Recent studies have revealed genetic aspects of Alzheimer's disease and the role of certain enzymes in the pathophysiology of fibrillary amyloid deposition. The aim in cognitive disease is an early diagnosis to initiate therapy and adapting measures in the patient's daily routines. The diagnosis is basically clinical with neuroimaging and neuropsychological tests' support. The EEG, SPECT, LP and other studies are only useful in a few specific scenarios. At present, a few promising therapies are being evaluated. Family support is of vital importance.

  16. Clinical manifestations and diagnosis and treatment on 200 cases of infantile pneumonia mycoplasma infection%小儿肺炎支原体感染200例临床表现及诊治

    Institute of Scientific and Technical Information of China (English)

    张笑云

    2014-01-01

    Objective to study the clinical symptoms and manifestations of pneumoniae mycoplasma infection in children. Methods the data of 200 cases of children with mycoplasma pneumoniae infection were retrospectively analyzed including symptoms, signs and auxiliary examination.Results on the early onset of disease, 200 cases often suffered from symptoms such as fever, cough and headache, at the same time, with a certain degree of neurological symptoms. the majority of cases showed white blood cells increasing and more than half cases showed abnormal performance by radiographic examination of the chest. Conclusion Mycoplasma pneumoniae infection has serious injuries on children, with faster development and poor prognosis. Because of the lack of speciifcity in clinical feature, it is dififcult for clinical diagnosis. The physicians should improve the ability on disease diagnosis and pay more attention to this.%目的:分析探讨小儿肺炎支原体感染的发病特征与临床表现。方法回顾性分析我院200例小儿肺炎支原体感染患儿的发病症状、体征及辅助检查等资料。结果200例患儿均于起病初期显现发热、咳嗽、头痛症状,同时伴有一定程度的神经系统症状。多数出现全血白细胞增高,胸部放射线检查半数以上有异常。结论小儿肺炎支原体感染对患儿损伤重,发展比较快,多预后较差,由于缺乏特异性临床特征,为临床诊断制造困难,要求医师提高诊断水平,充分给予重视。

  17. Atypical Clinical Manifestations of Graves' Disease: An Analysis in Depth

    Directory of Open Access Journals (Sweden)

    Mohamed Osama Hegazi

    2012-01-01

    Full Text Available Over the past few decades, there has been an increase in the number of reports about newly recognized (atypical or unusual manifestations of Graves' disease (GD, that are related to various body systems. One of these manifestations is sometimes the main presenting feature of GD. Some of the atypical manifestations are specifically related to GD, while others are also similarly seen in patients with other forms of hyperthyroidism. Lack of knowledge of the association between these findings and GD may lead to delay in diagnosis, misdiagnosis, or unnecessary investigations. The atypical clinical presentations of GD include anemia, vomiting, jaundice, and right heart failure. There is one type of anemia that is not explained by any of the known etiological factors and responds well to hyperthyroidism treatment. This type of anemia resembles anemia of chronic disease and may be termed GD anemia. Other forms of anemia that are associated with GD include pernicious anemia, iron deficiency anemia of celiac disease, and autoimmune hemolytic anemia. Vomiting has been reported as a presenting feature of Graves' disease. Some cases had the typical findings of hyperthyroidism initially masked, and the vomiting did not improve until hyperthyroidism has been detected and treated. Hyperthyroidism may present with jaundice, and on the other hand, deep jaundice may develop with the onset of overt hyperthyroidism in previously compensated chronic liver disease patients. Pulmonary hypertension is reported to be associated with GD and to respond to its treatment. GD-related pulmonary hypertension may be so severe to produce isolated right-sided heart failure that is occasionally found as the presenting manifestation of GD.

  18. Calcium pyrophosphate deposition disease: clinical manifestations

    Directory of Open Access Journals (Sweden)

    M.A. Cimmino

    2012-01-01

    Full Text Available Calcium pyrophosphate deposition (CPPD disease is an arthropathy caused by calcium pyrophosphate dihydrate (CPP crystal deposits in articular tissues, most commonly fibrocartilage and hyaline cartilage. According to EULAR, four different clinical presentations can be observed: 1 asymptomatic CPPD; 2 osteoarthritis (OA with CPPD; 3 acute CPP crystal arthritis; 4 chronic CPP inflammatory crystal arthritis. Acute CPP crystal arthritis is characterized by sudden onset of pain, swelling and tenderness with overlying erythema, usually in a large joint, most often the knee, wrist, shoulder, and hip. Occasionally, ligaments, tendons, bursae, bone and the spine can be involved. CPPD of the atlanto-occipital joint (crowned dens syndrome can cause periodic acute cervico-occipital pain with fever, neck stiffness and laboratory inflammatory syndrome. Chronic inflammatory arthritis is characterized by joint swelling, morning stiffness, pain, and high ESR and CRP. The relationship between OA and CPPD is still unclear. The main problem is whether such crystals are directly involved in the pathogenesis of OA or if they are the result of joint degeneration. Diagnosis is based on evaluation of history and clinical features, conventional radiology, and synovial fluid examination. Non-polarized light microscopy should be used initially to screen for CPPD crystals based upon their characteristic morphology, and compensated polarized light microscopy, showing the crystals to be weakly positive birefringent, is recommended for definitive identification, although this last pattern only occurs in about 20% of samples. The main goals of CPPD therapy are control of the acute or chronic inflammatory reaction and prevention of further episodes.

  19. Clinical Manifestations and Distribution of Cutaneous Leishmaniasis in Pakistan

    Directory of Open Access Journals (Sweden)

    Abaseen Khan Afghan

    2011-01-01

    Full Text Available Cutaneous leishmaniasis (CL is a rising epidemic in Pakistan. It is a major public health problem in the country especially alongside regions bordering the neighboring Afghanistan and cities that have had the maximum influx of refugees. The purpose of our paper is to highlight the diverse clinical manifestations of the disease seen along with the geographic areas affected, where the hosts are particularly susceptible. This would also be helpful in presenting the broad spectrum of the disease for training of health care workers and help in surveillance of CL in the region. The increased clinical diversity and the spectrum of phenotypic manifestations noted underscore the fact that the diagnosis of CL should be not only considered when dealing with common skin lesions, but also highly suspected by dermatologists and even primary care physicians even when encountering uncommon pathologies. Hence, we would strongly advocate that since most of these patients present to local health care centers and hospitals, primary care practitioners and even lady health workers (LHWs should be trained in identification of at least the common presentations of CL.

  20. RHEUMATOID ARTHRITIS WITH SYSTEMIC MANIFESTATIONS: DIAGNOSIS, INDICATORS OF AN UNFAVORABLE COURSE

    Directory of Open Access Journals (Sweden)

    B D Nazarov

    2012-01-01

    Full Text Available The systemic manifestations of rheumatoid arthritis (RA are fairly diverse. They are associated with high disease activity and an increased risk for deaths, primarily from cardiovascular events. Objective: to study the frequency and spectrum of extra-articular manifestations of RA. Subjects and methods. The trial enrolled 119 patients, including 110 women and 19 men (mean age 47.4+4.3 years, with the reliable and valid diagnosis of RA (mean duration 9.4+3.3 years. The patients were divided into 2 groups: 1 78 patients with the extra-articular manifestations of RA (a study group; 2 44 patients without these signs (a comparison group. Clinical, laboratory, instrumental, and morphological studies were made using current diagnostic methods. Results. By and large, the extra-articular manifestations of RA are closely associated with its activity and joint lesion severity. The study group most commonly had anemia (71.4%, rheumatoid nodules (29.4%, generalized amyotrophy (26.9%, lymphadenopathy (26.1%, prolonged fever (24.4%, and rheumatoid vasculitis (18.5%. The development of extra-articular manifestations was associated with the activity and late diagnosis of RA and rheumatoid factor seropositivity.

  1. The characteristics and clinical manifestation of subjects with non-specific pattern of pulmonary function tests

    Institute of Scientific and Technical Information of China (English)

    周德训

    2014-01-01

    Objective To analyze the characteristics of pulmonary function and the clinical significance of non-specific pattern(NSP).Methods A total of 1 933 pulmonary function tests of adult patients were analyzed,and those with NSP were selected.The pulmonary function test results,clinical diagnosis and radiological manifestations were

  2. [Clinical diagnosis of dyslexia].

    Science.gov (United States)

    Martínez Hermosillo, A; Balderas Gil, A

    1980-01-01

    In 5 years of experience at the Instituto Nacional de la Comunicacion Humana, 302 clinical histories showed the diagnosis of dyslexia. The following parameters were studied: age, sex, heredofamilial history, gestation, psychomotor development, clinical picture, examination of the language (type, reading, spontaneous writing, dictation, mathematic concepts), laterality, scholarship, scholar failures, psychological study. The following results were obtained: Dyslexia was more important or frequent between 5 to 8.9 years of age. Males predominated 3:1. The heredofamilial history was important. Dyslexia prevailed in products of the first gestations. A high disturbance was found in the psychomotor development of a large percent of dyslexic patients. Examination of language was also important. Dyslexia was more frequent in right-handed patients. Scholar failures in one or more instances were found. The psychological study must be done. If dyslexia is diagnosed on time, it may be prevented and all unwanted sequelae may be avoided.

  3. A CLINICAL STUDY OF MUCOCUTANEOUS MANIFESTATIONS OF DIABETES MELLITUS

    Directory of Open Access Journals (Sweden)

    Ramesh

    2015-06-01

    Full Text Available BACKGROUND AND OBJEC TIVES: It is a well - known fact that the skin is referred to as the mirror of the internal diseases. This study has undertaken with the objectives of knowing the spectrum of mucocutaneous manifestations in diabetes mellitus. METHODS: A total of 100 patients with dermatological manifestation were included in the study. Relevant investigation for the diagnosis of diabetes and dermatological disorders were done. RESULTS : Majority of the cases belonged to the age group 41 - 60 years. Various dermatoses observed in the patients were fungal, bacterial and viral infections, lichen planus, vitiligo, diabetic bullae and diabetic dermopathy, granuloma annulare, among the various cutaneous manifestations. Thirty four patients had associated systemic illness, hypertension being most commonly observed. INTERPRETATION AND CONCLUSION: A diabetic patient can present with both specific and non - specific dermatological manifestations. Thus a patient presenting with mucocutaneous manifestations in the absence of primary cutaneous disorders should be investigated for the underlying diabetic status . KEYWORDS : Diabetes; mucocutaneous Manifestations.

  4. CLINICAL MANIFESTATIONS OF VASCULITIS AT THE ONSET OF MULTIPLE MYELOMA

    Directory of Open Access Journals (Sweden)

    V I Vasil'ev

    2010-01-01

    Full Text Available The paper describes two patients (a 50-year woman and a 72-year man in whom the clinical manifestations of ulceronecrotic vasculitis had long preceded before the diagnosis of multiple myeloma was made. In the former, monoclonal cryoglobulinemia type I induced ulcerative lesions with the development of dry toe gangrene and paraproteinemic renal lesion. In the latter, ulceronecrotic vasculitis with the development of dry toe gangrene was a manifestation of monoclonal paraproteinemia without signs of cryoglobulinemia. Both patients were found to have monoclonal blood secretion (РIgGλ и РIgGκ and urine Bence Jones protein (BJλ+BJκ, BJκ in the absence of immunological markers of vasculitis developing in patients with rheumatic diseases. Immunochemical study of serum/urine and, when monoclonal secretion of PIg+BJ is detected, further examination for plasma cell dyscrasia should be performed in all cases of vascular disorders (cold allergy, Raynaud's syndrome, purpura, ulcers of cruses, and gangrene of distal phalanxes of the hands/feet in patients with atypical vasculitis. The timely immunochemical study of blood and urine will make it possible to diagnose plasma cell dyscrasia (different types of myelomic disease, Waldenstrцm macroglobulinemia, primary amyloidosis at the early stage of the disease and to rule out unjustifiably diagnosed vasculitis in patients with atypical vascular lesions.

  5. Clinical manifestations and qualitative diagnosis of Cushing's syndrome in adolescence%青少年库欣综合征的临床表现和定性诊断

    Institute of Scientific and Technical Information of China (English)

    陈适; 卢琳; 童安莉; 潘慧; 朱慧娟; 茅江峰; 陆召麟

    2015-01-01

    Objective To analyze the clinical features and qualitative diagnosis methods of Cushing's syndrome (CS) in adolescence.Methods The clinical features and laboratory findings of 50 adolescent patients with CS admitted to the Department of Endocrinology, Peking Union Medical College Hospital from January 1990 to March 2012 were analyzed retrospectively.Results The age of medical treatment was 14--4 years.Male : female =1.00 : 1.17.Thirty-six adolescent patients (72%) had CS, and it was the most common cause.The proportions of the typical clinical manifestations, supraclavicular fat pads, moon face, centripetal obesity, and buffalo hump of the adolescent patients were more than 90%.The height of 63% adolescent patients with CS was below the third percentile, but the body mass of 42% adolescent patients was higher than the 75th percentile.Hypertension, osteoporosis, glucose metabolism disorder, and hyperlipidemia were also more common.If the 1.8 μg/dl cut-off point was used, the diagnostic sensitivity of midnight serum cortisol was the highest (100%);followed by the classic low-dose dexamethasone suppression test, 24 h urine free cortisol and overnight low-dose dexamethasone suppression test, their sensitivities were 95%, 88%, and 70%, respectively.Conclusions The most common cause is CS in adolescent patients with CS.The clinical manifestations are more typical, including dumpy figure, etc.When the midnight serum cortisol cut-off point is 18.8 μg/dl, its diagnostic sensitivity is the highest.%目的 分析青少年库欣综合征(CS)的临床特点和定性诊断方法.方法 对1990年1月至2012年3月北京协和医院内分泌科收治的50例青少年CS患者的临床特点和实验室检查结果进行回顾性分析.结果 患者就诊年龄(14±4)岁,男:女=1.00:1.17.50例CS患者中,36例(72%)患有库欣病,为最常见的病因.CS患者临床表现典型,锁骨上脂肪垫、满月脸、向心性肥胖、水牛

  6. Tardive Dystonia: Clinical Spectrum and Novel Manifestations

    Directory of Open Access Journals (Sweden)

    R. Jeffrey Davis

    1988-01-01

    Full Text Available Tardive dystonia was identified in 25 patients: involvement of the face and neck was most common; truncal and limb dystonia were also observed. There were 3 cases of laryngospasm and 2 of spasmodic dysphonia. The latter has not been previously reported as a manifestation of tardive dystonia. In all cases, movements typical of classic tardive dyskinesia could be demonstrated. This group illustrates the variety of dystonic disorders that may occur in conjunction with tardive dyskinesia.

  7. Clinical manifestations and cerebral angiographic findings of moyamoya disease

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Objective To study the clinical features and angiographic findings of moyamoya disease (MMD) as well as their relationship. Methods A total of 22 MMD patients received routine digital substraction angiography (DSA). The clinical manifestations and angiographic findings were analyzed. Results Clinical manifestations varied and each patient often had multiple symptoms,including cerebral infarction in 9 patients with an average age of 23.6 (13-39 years) and cerebral hemorrhage in 7 patients with an average age...

  8. [Clinical and roentgenological manifestations of the silent sinus syndrome].

    Science.gov (United States)

    Piskunov, S Z; Piskunov, I S; Zav'ialov, F N; Solodilova, N M

    2011-01-01

    Analysis of the results of the examination and treatment of four patients presenting with the silent sinus syndrome provided materials for the generalized characteristic of clinical and roentgenological manifestations of this condition.

  9. Lipid storage myopathies with unusual clinical manifestations

    Directory of Open Access Journals (Sweden)

    Uppin Megha

    2008-01-01

    Full Text Available We describe the clinical presentation, course and pathologic findings found in three adult patients with lipid storage myopathy. Excessive lipid storage was found in Type 1 fibers of muscle. Clinical improvement on oral levo-carnitine therapy suggests the possibility of carnitine deficiency as the most likely etiology in two of the patients and one had mitochondrial myopathy confirmed on genetic analysis.

  10. Polycystic ovary syndrome: a review for dermatologists: Part I. Diagnosis and manifestations.

    Science.gov (United States)

    Housman, Elizabeth; Reynolds, Rachel V

    2014-11-01

    Polycystic ovary syndrome (PCOS) is a common endocrine disorder among women who are of reproductive age. The pathogenesis involves several associated hormonal pathways that culminate in metabolic, reproductive, and cardiovascular effects. The hallmark features of hyperandrogenism and hyperinsulinemia have systemic long-term implications. Dermatologists frequently evaluate and manage the cutaneous manifestations of PCOS (ie, acanthosis nigricans, hirsutism, acne, and alopecia), and therefore play a key role in its diagnosis and management. In part I of this continuing medical education article, we review the definition, etiology, pathogenesis, and clinical features of PCOS.

  11. Neuropathic pain due to malignancy: Mechanisms, clinical manifestations and therapy

    Directory of Open Access Journals (Sweden)

    Pjević Miroslava

    2004-01-01

    Full Text Available Introduction Neuropathic pain in cancer patients requires a focused clinical evaluation based on knowledge of common neuropathic pain syndromes. Definition Neuropathic pain is a non-nociceptive pain or "differentiation" pain, which suggests abnormal production of impulses by neural tissue that is separated from afferent input. Impulses arise from the peripheral nervous system or central nervous system. Causes of neuropathic pain due to malignancy Neuropathic pain is caused directly by cancer-related pathology (compression/infiltration of nerve tissue, combination of compression/infiltration or by diagnostic and therapeutic procedures (surgical procedures, chemotherapy, radiotherapy. Mechanisms Pathophysiological mechanisms are very complex and still not clear enough. Neuropathic pain is generated by electrical hyperactivity of neurons along the pain pathways. Peripheral mechanisms (primary sensitization of nerve endings, ectopically generated action potentials within damaged nerves, abnormal electrogenesis within sensory ganglia and central mechanisms (loss of input from peripheral nociceptors into dorsal horn, aberrant sprouting within dorsal horn, central sensitization, loss of inhibitory interneurons, mechanisms at higher centers are involved. Diagnosis The quality of pain presents as spontaneous pain (continuous and paroxysmal, abnormal pain (allodynia, hyperalgesia, hyperpathia, paroxysmal pain. Clinical manifestations Clinically, neuropathic pain is described as the pain in the peripheral nerve (cranial nerves, other mononeuropathies, radiculopathy, plexopathy, paraneoplastic peripheral neuropathy and relatively infrequent, central pain syndrome. Therapy Treatment of neuropathic pain remains a challenge for clinicians, because there is no accepted algorithm for analgesic treatment of neuropathic pain. Pharmacotherapy is considered to be the first line therapy. Opioids combined with non-steroidal antiinflammatory drugs are warrented. If

  12. Autoimmune Hepatitis: Clinical Manifestations and Diagnostic Criteria

    Directory of Open Access Journals (Sweden)

    Ian G Mcfarlane

    2001-01-01

    Full Text Available In 1998, the International Autoimmune Hepatitis Group - a panel of 40 hepatologists and hepatopathologists from 17 countries who have a particular interest in autoimmune hepatitis (AIH - undertook a review, in light of subsequent experience, of the descriptive criteria and diagnostic scoring system that it had proposed in 1993 for the diagnosis of AIH. This review (published in 1999 noted that the original descriptive criteria appeared to be quite robust and required only relatively minor modifications to bring them up to date with developments and experience in diagnostic modalities for liver disease in general. Analysis of published data on the application of the original criteria in nearly 1000 patients revealed that the diagnostic scoring system had an overall diagnostic accuracy of 89.8%, with a sensitivity of 98.0%. Specificity for excluding definite AIH in patients with chronic viral hepatitis and circulating autoantibodies or patients with overlapping cholestatic syndromes was 98% to 100%, but specificity for excluding probable AIH in these disorders ranged from only 60% to 80%. Modifications, including adjustments to the weightings against biochemical and histological cholestatic features, have been made to the scoring system to improve its specificity.

  13. Uterine fibroids: clinical manifestations and contemporary management.

    Science.gov (United States)

    Doherty, Leo; Mutlu, Levent; Sinclair, Donna; Taylor, Hugh

    2014-09-01

    Uterine fibroids (leiomyomata) are extremely common lesions that are associated with detrimental effects including infertility and abnormal uterine bleeding. Fibroids cause molecular changes at the level of endometrium. Abnormal regulation of growth factors and cytokines in fibroid cells may contribute to negative endometrial effects. Understanding of fibroid biology has greatly increased over the last decade. Although the current armamentarium of Food and Drug Administration-approved medical therapies is limited, there are medications approved for use in heavy menstrual bleeding that can be used for the medical management of fibroids. Emergence of the role of growth factors in pathophysiology of fibroids has led researchers to develop novel therapeutics. Despite advances in medical therapies, surgical management remains a mainstay of fibroid treatment. Destruction of fibroids by interventional radiological procedures provides other effective treatments. Further experimental studies and clinical trials are required to determine which therapies will provide the greatest benefits to patients with fibroids.

  14. Clinical manifestations of cow milk protein intolerance in infants

    Directory of Open Access Journals (Sweden)

    Mladenović Marija

    2005-01-01

    Full Text Available Introduction. The disorder of cow milk protein intolerance is characterized by a wide spectrum of clinical manifestations caused by hypersensitivity of type I, II, or IV, and occurs in 2-3% of children, mostly infants. Objective. The aim of this study was to present our experiences and observations of clinical signs and symptoms of cow milk protein intolerance in infants aged below 12 months. Method. The investigation was carried out on a sample of 55 infants, aged between 1.5-9 months (x=4.2l±1.25, who had cow milk protein intolerance. Diagnosis of illness was based on characteristic anamnestic, clinical, and laboratory parameters, as well as on an adequate patient's response to antigen elimination. Results. The clinical presentation of cow milk protein intolerance was dominated by cutaneous problems, found in 40/55 (72.73% infants, followed by digestive disorders, found in 31 (56.36%, while respiratory tract disorders were observed least frequently (14.55%. None of the patients developed anaphylactic shock. Changes involving only one system were found in 35 (63.64% patients; of these 20 (36.36% were cutaneous and 15 (27.27% digestive. Twenty (36.36% infants displayed multisystemic changes; of these 12 were cutaneus with digestive, 4 were cutaneus with respiratory, while 4 infants had cutaneous, digestive, and respiratory disorders. Of the 55 infants with cow milk protein intolerance, 26 (47.27% had urticaria, 22 (40.00% perioral erythema, 21 (38.18% diarrhoea (15 haemorrhagic, 6 non-haemorrhagic, 13 (23.64% vomiting, 12 (21.82% Quincke's oedema, 12 (21.82% eczema, 5 (9.09% obstructive bronchitis, while 3 (5.45% infants had laryngitis. In 5 (9.09% patients we found a significant body weight deficit and in 3 (5.45%, sideropenic anaemia, while longitudinal growth retardation was not registered in any of the patients. Conclusion. Our study showed that the disorder of cow milk protein intolerance predominantly involved cutaneous disorders as well

  15. Prevalence of Intestinal Parasites and Clinical Manifestations in Children

    Directory of Open Access Journals (Sweden)

    M Ebadi

    2007-06-01

    Full Text Available Background: Diagnosis and treatment of parasitic infections are very important because of pathologic changes and clinical symptoms produced in the host, and for taking measures against them. These diseases have more adverse effects and more importance in children. This study was aimed at determining the prevalence of intestinal parasites and their clinical manifestations in children 0-14 years old referred to Yazd Central Laboratory. Methods: The present cross- sectional descriptive study was performed during the April 2005 to September 2006, with data obtained from the stool samples of 1500 children, using both wet mount smear (physiologic saline and Lugol΄s solutions and formalin-ethyl acetate concentration method for detection of the intestinal parasites and also with the tape test for eggs of Enterobius vermicularis and Taenia. Results: From 1500 examined stool samples, 128(8.5% cases were positive for one of the intestinal parasites, including 67(52.3% females and 61(47.7% males. Ninety five percent of positive cases were infected with protozoa and 5% with helminths. The most frequent protozoans were Blastocystis hominis 41.3%, Giardia lamblia 33.6%, and Entamoeba coli 14.7%. Enterobius vermicularis (4.3% and Hymenolepis nana (0.7% were the helminth species. The most abundant infection rate was shown in the 5-9 years old group, with a significant difference compared with other age groups (P< 0.05. About 87% of children infested with Blastocystis hominis showed more than 5 Blastocystis per 400x microscope fields, and 100% of children infested with Giardia lamblia and Chilomastix mesnili had clinical symptoms. Conclusion: In this study, lower contamination rates in comparison with the similar studies conducted in other regions of the country was seen, which may be as a result of the hot and dry climate and improved personal hygiene and public health services. There is a need for further studies about the prevalence and clinical symptoms of

  16. Clinical manifestations and managements in jellyfish envenomation A systematic review

    Directory of Open Access Journals (Sweden)

    Negar Taheri

    2013-11-01

    Full Text Available Background: The phylum Cnidarians have over nine thousand species that approximately, one hundred species are dangerous for humans. Annually, a large number of deaths were reported due to jellyfish stings. The manifestations depend on their species and kind of venoms, and include the local and systemic manifestations. A number of methods and compounds were used and under investigation for management of injuries with jellyfishes. Due to the lack of an integrated systematic review, the current study was done. Materials and Methods: The PubMed data bank was searched for the term “Jellyfish”. A total of 1677 papers were found. These papers were divided into three categories: medical, biomedical and biotechnological fields. The medical category was further divided into three subcategories comprising systemic manifestations, cutaneous manifestations and treatments for the stings of jellyfishes. The biomedical category was further subdivided into genomics, proteomics, and biology of venoms, mechanisms of actions and products of biomedical significance. In this part of systematic review, the medical aspects of injuries with jellyfishes were evaluated. Results: The clinical manifestations in jellyfish envenomation depend on their species and the nature of venoms. The most common clinical manifestations of jellyfish stings are cutaneous presentations like urticasia, erythema, swelling, vesicles and severe dermonectoric manifestations. Systemic manifestations were seen in the stings of box jellyfishes, Portuguese man-of-war and in Irukandji syndrome. The most common recommendations for jellyfish envenomation managements include decreasing the local effects of venom, prevention of the venomous nematocysts release, and Controlling of systemic reactions. Application of commercial vinegar (4 - 6% acetic acid, hot water immersion (HWI (42 ° C for 20 minutes, ice packs, sea water rinsing for inactivating nematocysts, administration of topical and parenteral

  17. Imaging manifestations and diagnosis of a case of adult cerebral paragonimiasis with the initial symptom of hemorrhagic stroke.

    Science.gov (United States)

    Wang, Hong; Shao, Bei

    2015-01-01

    This study is to investigate the clinical features, neuroimaging and diagnosis of adult cerebral paragonimiasis. One case of patient with cerebral paragonimiasis as retrospectively analyzed in this study. Analysis included medical history, clinical manifestations and neuroimaging. Blood test, body fluid examination, immunological test, stool examination and imaging examination were performed. Many symptoms such as headache, hemiplegia, chest pain, cough, and pleural effusion were detected in the patient. The features of "tunnel-like shape" and "ring-like shape", the intracranial hemorrhage and edema were shown by CT and MRI imaging. Chest CT examination revealed pleural effusion. Eosinophil count of peripheral blood and pleural effusion increased. Lung fluke ELISA test was positive and anti-parasitic treatment was effective. The typical clinical manifestations of MRI of cerebral paragonimiasis, such as the "tunnel-like shape" and "ring-like shape", were of high diagnostic value. And, blood eosinophil count examination and paragonimiasis antibody test could also help the diagnosis value.

  18. Craniofacial muscle pain: review of mechanisms and clinical manifestations.

    Science.gov (United States)

    Svensson, P; Graven-Nielsen, T

    2001-01-01

    Epidemiologic surveys of temporomandibular disorders (TMD) have demonstrated that a considerable proportion of the population--up to 5% or 6%--will experience persistent pain severe enough to seek treatment. Unfortunately, the current diagnostic classification of craniofacial muscle pain is based on descriptions of signs and symptoms rather than on knowledge of pain mechanisms. Furthermore, the pathophysiology and etiology of craniofacial muscle pain are not known in sufficient detail to allow causal treatment. Many hypotheses have been proposed to explain cause-effect relationships; however, it is still uncertain what may be the cause of muscle pain and what is the effect of muscle pain. This article reviews the literature in which craniofacial muscle pain has been induced by experimental techniques in animals and human volunteers and in which the effects on somatosensory and motor function have been assessed under standardized conditions. This information is compared to the clinical correlates, which can be derived from the numerous cross-sectional studies in patients with craniofacial muscle pain. The experimental literature clearly indicates that muscle pain has significant effects on both somatosensory and craniofacial motor function. Typical somatosensory manifestations of experimental muscle pain are referred pain and increased sensitivity of homotopic areas. The craniofacial motor function is inhibited mainly during experimental muscle pain, but phase-dependent excitation is also found during mastication to reduce the amplitude and velocity of jaw movements. The underlying neurobiologic mechanisms probably involve varying combinations of sensitization of peripheral afferents, hyperexcitability of central neurons, and imbalance in descending pain modulatory systems. Reflex circuits in the brain stem seem important for the adjustment of sensorimotor function in the presence of craniofacial pain. Changes in somatosensory and motor function may therefore be

  19. A CLINICAL STUDY OF OCULAR MANIFESTATIONS IN HIV PATIENTS

    Directory of Open Access Journals (Sweden)

    Ravinder

    2015-12-01

    Full Text Available BACKGROUND HIV/AIDS is a multi system disorder with ocular involvement is about 70-80% of HIV patient occupational exposure to HIV is a significant health hazard for the treating clinicians including Eye Surgeons. AIM To study and evaluation of ocular manifestation in HIV patients attending out patient. MATERIALS AND METHODS It is observational study of 104 HIV+ve cases for a period of 1 year those patients who attended ophthalmic out patient department. RESULTS 73 were males (70.19% and 31 were females (29.80%. Majority of the patients belongs to age group of 15-50 years. Out of 104 patients 83(79.80% were married and 21(20.20% were unmarried. HIV was predominantly seen in labourers 41(32.42%. The predominant mode of transmission of sexual (Hetero Sexual transmission. HIV infection was predominantly seen in uneducated patients 64(61.53%. Total No. of ocular findings in 51 cases out of 75 with anterior Uveitis, Conjunctival microvasculopathy, Herpes Simplex Keratitis and Conjunctivitis are the most common anterior segment manifestation. CMV retinitis, HIV Microvasculopathy are the most common posterior segment manifestation. CONCLUSIONS Ophthalmologists should be familiar with common and uncommon ocular manifestations of AIDS+ve cases and their diagnosis and treatment, as early and proper treatment can Salvage their vision and improve the quality of life.

  20. Penile ulcer as a specific clinical manifestation of Waldenstrom’s macroglobulinemia*

    Science.gov (United States)

    Oliveira, Cláudia Cardoso de Macedo; Bressa, José Antônio Nascimento; Mendes, Fernanda; Roncada, Eduardo Vinicius Mendes; Monteiro, Rodrigo; Abreu, Marilda Aparecida Milanez Morgado

    2016-01-01

    Waldenstrom’s macroglobulinemia is considered a lymphoma by the World Health Organization. Cutaneous lesions, particularly of a specific type, are rare occurring in 5% of patients. What draws attention in this case is the unusual cutaneous clinical manifestation and its location on the genitals, which has not been described in researched literature, therefore imposing differential diagnosis with other etiologies of genital ulcers. PMID:27192528

  1. Unusual manifestations of Charcot-Marie-Tooth disease: A clinical observation

    Directory of Open Access Journals (Sweden)

    Akhila Kumar Panda

    2014-01-01

    Full Text Available Charcot-Marie-Tooth disease (CMT is the most common hereditary neuromuscular disorder. Careful assessment of clinical presentations, mode of inheritance, electrophysiological studies, and genetic analysis form the basis for the diagnosis of CMT. CMT4 is a group of progressive motor and sensory axonal demyelinating neuropathies. It is distinguished from other forms of CMT by autosomal recessive pattern of inheritance, variable clinical manifestations, electrophysiological study, nerve biopsy, and specific genetic studies. Here, we report an interesting case of hereditary neuropathy with recessive inheritance pattern who presented with combined clinical phenotypes of 4B1, 4C, and 4D subtypes. The histopathological study revealed onion bulb appearance suggestive of demyelination and remyelination phenomenon. The overlapping clinical manifestation may create a diagnostic challenge which would be confirmed by specific molecular analysis.

  2. West Syndrome in South Iran: Electro-Clinical Manifestations

    Directory of Open Access Journals (Sweden)

    ALI Akabar ASADI-POOYA

    2013-08-01

    Full Text Available How to Cite This Article: Asadi-Pooya AA, Sharifzade M. West Syndrome in South Iran: Electro-Clinical Manifestations. Iran J Child Neurol. 2013 Summer; 7(3: 40-44.ObjectiveWe aimed to determine the clinical and electroencephalographic (EEG characteristics of the patients with West syndrome (WS in south Iran.Materials & MethodsIn this retrospective study, all patients with a clinical diagnosis of WS were recruited in the outpatient epilepsy clinic at Shiraz University of Medical Sciences between September 2008 and May 2012. Age, gender, age at seizure onset, seizure type(s, epilepsy risk factors, EEG and imaging studies of all patients were registered routinely.ResultsDuring the study period, 2500 patients with epilepsy were registered at our epilepsy clinic. Thirty-two patients (1.3% were diagnosed to have WS. Age of onset (mean ± standard deviation was 4.99 ± 3.06 months. Sixteen patients were male and 16 were female. Nine (28.1% were reported to have two or more seizure types and 23 (71.8% had one seizure type (epileptic spasms. At referral, no developmental delay was detected in two patients and in the rest, a mild to severe delay was noted.Electroencephalography showed typical hypsarrhythmia in 59.4% of our patients and modified hypsarrhythmia or atypical presentations were seen in 40.6%. Two patients had pyridoxine (B6-dependent seizures, confirmed by oral B6 trial.ConclusionVariants of the classical triad of WS including other seizure types, atypical EEG findings, and normal psychomotor function at the beginning could be observed in some patients. Rarely, treatable genetic disorders (e.g., pyridoxine-dependent seizures should be considered in those in whom no other diagnosis is evident. References1. Blume WT, Lüders HO, Mizrahi E, Tassinari C, van Emde Boas W, Engel J Jr. Glossary of descriptive terminology for ictal semiology: report of the ILAE task force on classification and terminology. Epilepsia. 2001 Sep;42(9:1212-8.2. Carmant L

  3. Facial diplegia: etiology, clinical manifestations, and diagnostic evaluation

    Directory of Open Access Journals (Sweden)

    Sefer Varol

    2015-12-01

    Full Text Available ABSTRACT Objective Facial diplegia (FD is a rare neurological manifestation with diverse causes. This article aims to systematically evaluate the etiology, diagnostic evaluation and treatment of FD. Method The study was performed retrospectively and included 17 patients with a diagnosis of FD. Results Patients were diagnosed with Guillain-Barré syndrome (GBS (11, Bickerstaff’s brainstem encephalitis (1, neurosarcoidosis (1, non-Hodgkin’s Lymphoma (1, tuberculous meningitis (1 herpes simplex reactivation (1 and idiopathic (1. In addition, two patients had developed FD during pregnancy. Conclusion Facial diplegia is an ominous symptom with widely varying causes that requires careful investigation.

  4. Clinical presentations and diagnosis of brucellosis.

    Science.gov (United States)

    Ulu-Kilic, Aysegul; Metan, Gökhan; Alp, Emine

    2013-04-01

    Brucellosis is a worldwide zoonosis caused by Brucella species. The disease remains a significant economic and public health problem particularly in the Mediterranean countries. Clinical manifestations of brucellosis are variable and often nonspecific, simulating infectious and noninfectious diseases. Osteoarticular involvement is the most common focal complication of brucellosis and morbidity. Mortality rate due to brucellosis is low, mostly secondary to endocarditis and central nerve involvement of disease. The diagnosis of brucellosis depends on the clinical presentations and laboratory tests. Detection of Brucella species by culture method is sometimes unsuccessful; therefore, serological tests are preferred. These tests are easy to perform, and results can be obtained within a short span of time. Several serologic tests have been developed for the diagnosis of human brucellosis, including the standard agglutination tube (SAT) test, anti-human globulin (Coombs) test, indirect fluorescence antibody (IFA) test, and enzyme-linked immunosorbent assay (ELISA). SAT is the primary test used in many clinical laboratories. IFA and ELISA are simple and reliable for the detection of immunoglobulin classes especially in complicated cases. Polymerase chain reaction (PCR) technique is highly sensitive and specific for the determination of Brucella spp. from peripheral blood and other tissues. Recent patents are especially based on molecular assays in the diagnosis of brucellosis. However, PCR is still expensive and may not be appropriate for daily practice.

  5. Migraine: etiology, risk, triggering, aggravating factors and clinical manifestations

    Directory of Open Access Journals (Sweden)

    Natalia Lindemann Carezzato

    2014-06-01

    Full Text Available This study aimed to identify the etiology and clinical manifestations of migraine. An integrative literature review was performed guided by the question: What is the evidence available in the literature about the etiology, signs and symptoms of migraine? The article search was conducted in the electronic databases PubMed and LILACS, considering publications in the period from 2006 to 2010. The selected articles were categorized and evaluated according to the level of evidence. One found 1,677 articles and 26 were selected for full reading. Most studies (84.6% consisted of a non-experimental design and were classified as evidence level IV. Although the clinical manifestations found in this study confirm the data available in the literature, it is noticed that migraine does not have well-established causes

  6. Clinical Manifestations and Outcomes of West Nile Virus Infection

    Directory of Open Access Journals (Sweden)

    James J. Sejvar

    2014-02-01

    Full Text Available Since the emergence of West Nile virus (WNV in North America in 1999, understanding of the clinical features, spectrum of illness and eventual functional outcomes of human illness has increased tremendously. Most human infections with WNV remain clinically silent. Among those persons developing symptomatic illness, most develop a self-limited febrile illness. More severe illness with WNV (West Nile neuroinvasive disease, WNND is manifested as meningitis, encephalitis or an acute anterior (polio myelitis. These manifestations are generally more prevalent in older persons or those with immunosuppression. In the future, a more thorough understanding of the long-term physical, cognitive and functional outcomes of persons recovering from WNV illness will be important in understanding the overall illness burden.

  7. Ocular manifestations of erythema nodosum in children (clinical case

    Directory of Open Access Journals (Sweden)

    E. Yu. Markova

    2015-01-01

    Full Text Available Retinal disorders are the second leading cause of blindness and low vision in children. Early diagnosis and accurate interpretation of optic fundus abnormalities and novel diagnostic tools improve outcomes and prevent irreversible complications. Recently, the occurrence of atypical optic fundus pathology in children has increased. This requires correct differential diagnosis using modern non-invasive methods. Erythema nodosum (EN is a rare condition that affects preschool children. This condition is characterized by acute or chronic deep dermal hypodermal skin vasculitis. Infectious diseases are considered as one of EN causes. EN is also associated with fungal diseases, inflammatory bowel diseases (ulcerative colitis, Crohn’s disease, hormone imbalance, sarcoidosis, rheumatoid arthritis, tuberculosis, medications. However, EN may occur as an isolated condition as well. Literature data on ocular manifestations of erythema nodosum are limited (episcleritis, pigment epitheliopathy. Acute bilateral neurochorioretinitis with serous MZ neuroepithelium detachment in a 5-year girl is of interest for clinicians, pediatricians, and ophthalmologists.  

  8. Ocular manifestations of erythema nodosum in children (clinical case

    Directory of Open Access Journals (Sweden)

    E. Yu. Markova

    2015-03-01

    Full Text Available Retinal disorders are the second leading cause of blindness and low vision in children. Early diagnosis and accurate interpretation of optic fundus abnormalities and novel diagnostic tools improve outcomes and prevent irreversible complications. Recently, the occurrence of atypical optic fundus pathology in children has increased. This requires correct differential diagnosis using modern non-invasive methods. Erythema nodosum (EN is a rare condition that affects preschool children. This condition is characterized by acute or chronic deep dermal hypodermal skin vasculitis. Infectious diseases are considered as one of EN causes. EN is also associated with fungal diseases, inflammatory bowel diseases (ulcerative colitis, Crohn’s disease, hormone imbalance, sarcoidosis, rheumatoid arthritis, tuberculosis, medications. However, EN may occur as an isolated condition as well. Literature data on ocular manifestations of erythema nodosum are limited (episcleritis, pigment epitheliopathy. Acute bilateral neurochorioretinitis with serous MZ neuroepithelium detachment in a 5-year girl is of interest for clinicians, pediatricians, and ophthalmologists.  

  9. Diagnosis of hyperandrogenism: clinical criteria.

    Science.gov (United States)

    Yildiz, Bulent O

    2006-06-01

    Hyperandrogenism or androgen excess is a common endocrine disorder of women of reproductive-age, with a prevalence of 5-10%. The majority of patients with hyperandrogenism will have polycystic ovary syndrome. Hyperandrogenism presents a complex diagnostic challenge for both the practicing physician and the clinical investigator. Clinical manifestations of hyperandrogenism include hirsutism, acne, androgenic alopecia, and virilization. Hirsutism, defined as excessive growth of terminal hair in women in a male-like pattern, is the most commonly used clinical diagnostic criterion of hyperandrogenism. The presence of hirsutism is usually determined by using a standardized scoring system of hair growth. Depending on the definition, hirsutism is present in up to 80% of patients with hyperandrogenism. Acne and androgenic alopecia are other common androgenic skin changes, and might be observed without hirsutism in some hyperandrogenic women. However, isolated presence of any of these manifestations is not used as a diagnostic criterion for hyperandrogenism. Virilization is a relatively uncommon feature of hyperandrogenism, and its presence often suggests an androgen-producing tumor. A thorough history and a focused clinical examination are extremely helpful in diagnostic evaluation of patients with suspected hyperandrogenism.

  10. Clinical and CT Histological Diagnosis of Orbital Tumors

    Institute of Scientific and Technical Information of China (English)

    HU Yanhua; WANG Jie; XIAO Shiyi

    2000-01-01

    The clinical manifestation and characteristics of CT image of 117 cases of orbital tumors in our hospital were investigated. The hemangioma had the highest incidence, and the less common tumors were, in sequence of incidence, pseudotumor, dermoid cysts, neurilemmoma, polymorphous adenoma and meningioma. The sensitivity in diagnosis of orbital tumor by CT was 93.3%. The coincidence of CT histological diagnosis with pathology were 83.3 %, 82.6 % and 71.4% for dermoid.cysts, hemangioma, and pseudotumor respectively, but the general coincidence of CT histological diagnosis with pathology was only 67.8 %. When CT was combined with ultrasound, cytological examination and clinical manifestations, the accuracy of histological diagnosis could be improved to 83.3 %.

  11. P450氧化还原酶缺陷症的临床表现和羊水穿刺产前诊断的意义%P450 oxidoreductase deficiency: clinical manifestations and prenatal diagnosis by amniocentesis

    Institute of Scientific and Technical Information of China (English)

    茅江峰; 聂敏; 高劲松; 徐洪丽; 卢双玉; 伍学焱

    2013-01-01

    目的 本研究旨在增加对P450氧化还原酶(POR)缺陷症发病机制和临床表现的认识,探讨羊水穿刺进行POR基因检测对产前诊断的重要意义.方法 对1例孕妇的既往异常妊娠史和胎儿的畸形进行描述;对孕妇及其配偶的POR基因进行检测;在本次妊娠时,对羊水细胞POR基因进行检测;对分娩胎儿的外生殖器和骨骼进行评价.结果 1)此孕妇在既往首次妊娠时出现声音低沉、痤疮增多等显著男性化表现;首次分娩双胎,均有肘关节骨融合、阴蒂肥大和脑瘫,经救治无效而死亡.2)此孕妇及其配偶的POR基因检测证实,男方存在POR基因的杂合突变(G1370A、Arg457His).3)当此孕妇再次妊娠达20周时,对羊水细胞进行POR基因检测未发现突变.4)足月顺产1女婴,外生殖器和骨骼正常.结论 羊水穿刺进行POR基因检测有助于获得此疾病相关的基因信息,指导妊娠决策.%Objective To investigate the values of P450 oxidoreductase (POR) gene test by amniocentesis for prenatal diagnosis in a pregnant woman whose husband has a heterozygous mutation in POR gene. Methods The abnormal pregnant history in mother and genitalia deformities in her fetus were described. POR gene from the woman and her husband was tested by PCR. During her second pregnancy, the cells from amniotic fluid were collected for POR gene test. The external genitalia and bone status were evaluated after birth. Results 1) the woman presented excessive virilization, such as deepen voice and facial acnes, during her first pregnancy. Her baby twins, manifesting elbow osseous fusion, clitoridauxe and cerebral palsy, died 2 weeks after birth. 2) A heterozygous mutation in POR gene (G1370A, Arg457His) was revealed in the peripheral blood cells from her husband. 3) During her second pregnancy, amniocentesis was conducted and POR gene test for cells from amniotic fluid was negative. 4) A female baby was born with normal external genitalia and

  12. Thrombosis in vasculitic disorders-clinical manifestations, pathogenesis and management.

    Science.gov (United States)

    Katz, Ofrat Beyar; Brenner, Benjamin; Horowitz, Netanel A

    2015-09-01

    Inflammation and coagulation are known to affect each other in many ways. Vasculitis represents a group of disorders where blood vessels (small, medium, large or variable) are infiltrated with inflammatory cells. Accumulating evidence in the literature suggests both clinical and physiological association between vasculitis and thrombosis. Vasculitis-associated thrombosis involves arteries and veins, and a tight connection has been reported between the activity of vasculitis and the appearance of thrombosis. Pathophysiology of these relations is complex and not completely understood. While thrombophilic factors are associated with vasculitis, it remains unclear whether a true association with clinical thrombosis is present. Furthermore, several factors leading to hemostasis, endothelial injury and induction of microparticles were described as possibly accounting for thrombosis. Management of thrombosis in vasculitis patients is challenging and should be further assessed in randomized controlled studies. The current review describes clinical manifestations, pathogenesis and management of thrombosis associated with different vasculitides.

  13. Clasificación de la osteoporosis: Factores de riesgo. Clínica y diagnóstico diferencial Classification of osteoporosis: Risk factors. Clinical manifestations and differential diagnosis

    Directory of Open Access Journals (Sweden)

    M.T. Hermoso de Mendoza

    2003-01-01

    Full Text Available El hecho de que existan múltiples factores que pueden intervenir en la etiopatogenia de la OP, y el de su poca expresividad clínica hasta que no se producen las complicaciones -las fracturas- plantea un problema práctico en la consulta diaria a la hora de identificar a las personas con riesgo de padecer OP y a la hora de concretar nuestra actuación. Estos aspectos, junto con las dificultades para el acceso desde la atención primaria a una prueba complementaria que confirme el diagnóstico así como la sobrecarga de tareas en nuestra consulta hace que muchas veces pase desapercibida esta enfermedad. De modo que, en el apartado de orientación diagnóstica de la OP tratamos de clarificar y cohesionar este abordaje, dando unas líneas guía muy útiles para sospechar la enfermedad y unas pautas de actuación que van a permitir centrar el diagnóstico de una forma eficaz y certera.The fact that there are multiple factors that can intervene in the ethiopathology of osteoporosis, together with its scarce clinical expression until complications -fractures- are produced, poses a practical problem in medical practice when it comes to identifying those persons at risk of osteoporosis. These aspects, together with the difficulties in obtaining access to a complementary test that would confirm the diagnosis and the overload of tasks in our clinic, mean that the disease often passes unnoticed. Hence, in the section on diagnostic orientation of osteoporosis we attempt to clarify and give cohesion to this approach, offering highly useful guidelines for suspecting the presence of the disease and patterns of action that will make it possible to diagnose in a more efficient and accurate way.

  14. Otological manifestations of turner syndrome: Clinical and radiological findings

    Directory of Open Access Journals (Sweden)

    Đerić Dragoslava

    2016-01-01

    Full Text Available Introduction. Turner syndrome is a chromosomal abnormality where all or a part of one of the X chromosomes is absent or it has other abnormalities. Besides characteristic abnormalities of short stature and infertility, women with Turner syndrome have increased risks for tumors of the central nervous system, especially meningioma and an otologic disease. Meningioma involving the middle ear is extremely rare, and this condition has never been published in association with Turner syndrome. Case Report. We present an otologic manifestation associated with other abnormalities in a patient with Turner syndrome and discuss diagnosis and possible treatment options. Conclusion. Multidisciplinary team approach is essential in these patients in order to evaluate their vulnerability and define therapeutic priorities.

  15. [The sacroiliac joint dysfunction: clinical manifestations, diagnostics and manual therapy].

    Science.gov (United States)

    Grgić, Vjekoslav

    2005-01-01

    Sacroiliac joint dysfunction is one of the proved causes of sacroiliac joint syndrome. We are talking about the restricted mobility of sacrum opposite to ilium the type of "reversible blockage of movement". Main characteristics of dysfunction are as follows: restricted "joint play", referred pain, normal radiological finding, normal lab results and disappearance of clinical symptoms after deblocking of articular bodies. Pain from a blocked joint can be referred to lower back, buttocks, hip, groin, thigh, calf and lower part of abdomen. Dispersion of painful regions is a consequence of a complex and variable innervation of articular capsule. Blocked position of articular bodies and protracted tension of articular capsule causes a stimulus of nociceptors by which a capsule is protected. Nociceptive activity is manifested with referred pains in innervational region of stimulated sensitive nerves. In the article, besides the clinical manifestations, there is described a diagnostics and manual therapy of dysfunction. Springing tests by means of which a passive mobility ("joint play") is being tested, are most valuable in dysfunction diagnostics. Manual therapy (mobilization/manipulation) is indicated and efficacious with the patients suffering from dysfunction.

  16. Effect of maternal transmissions on clinical manifestations of myotonic dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Eguchi, I.; Koike, R.; Onodera, O. [Niigata Univ. (Japan)] [and others

    1994-09-01

    The mutation of myotonic dystrophy (DM) has been identified as unstable expansions of trinucleotide CTG repeat, located on chromosome 19q13-3. Although previous investigations have emphasized the strong association of the sizes of the CTG repeat with ages of onset as well as the clinical manifestations, effects of the paternal or maternal transmissions other than CTG repeats on the clinical manifestations in DM have not been evaluated in detail. To investigate how parental transmission affect the DM phenotype, we analyzed 15 cases of paternal transmission and 25 cases of maternal transmission. We have classified DM patients into 4 clinical grades. As in accordance with previous reports, there is a good correlation on sizes of the CTG repeat with their clinical features. The sizes of the CTG repeat in congenital DM patients (4.13{plus_minus}0.221 kbp) (Mean {plus_minus}SEM), who inherited mutant genes from their mothers, were not significantly larger than those of non-congenital DM patients (3.65 {plus_minus}0.36 kbp). As it has been well established that congenital DM patients are born to affected mothers, we investigated to see if there are any parental bias on the clinical manifestations in non-congenital DM. We classified each case into 4 classes depending on the size ranges of the CTG repeat (0 to 1.5 kbp, 1.5 to 3.0 kbp, 3.0 to 4.5 kbp, 4.5 kbp<). In each group of the size ranges of the CTG repeat, the distribution of cases among grades I to III were compared between paternally and maternally transmitted cases. There were statistically significant differences in the distributions of cases among grades I to III for the size ranges of 3 to 4.5 kbp expansions (p<0.01) and over 4.5 kbp expansions (p<0.05) on {chi}{sup 2} test, respectively. The results revealed that maternally transmitted cases tend to show severe phenotypes compared to paternally transmitted ones even if they have similar sizes of CTG repeat.

  17. Clinical Manifestations of Campylobacter concisus Infection in Children

    DEFF Research Database (Denmark)

    Nielsen, Hans Linde; Engberg, Jørgen; Ejlertsen, Tove;

    2013-01-01

    BACKGROUND:: There is only sparse information about the clinical impact of Campylobacter concisus infections in children. METHODS:: A study was performed during a two-year period to determine the clinical manifestations in C. concisus positive children with gastroenteritis. A case patient...... with Campylobacter jejuni/coli infection. RESULTS:: Two thousand three hundred and seventy-two diarrheic stool samples from 1,867 children were cultured for pathogenic enteric bacteria during the study period, and 85 and 109 children with C. concisus and C. jejuni/coli, respectively, were identified. Comparison...... for more than two weeks and two-thirds of all children with C. concisus reported loose stools after six month follow-up. CONCLUSIONS:: Campylobacter concisus infection in children seems to have a milder course of acute gastroenteritis compared with C. jejuni/coli infection, but is associated with more...

  18. Incidence, pathophysiology, and clinical manifestations of antiphospholipid syndrome.

    Science.gov (United States)

    Brock, Clifton O'neill; Brohl, Andrew Scott; Običan, Sarah Gloria

    2015-09-01

    Antiphospholipid syndrome (APLS) is a complex systemic disease with a wide variety of clinical manifestations. In the obstetric population, recurrent early pregnancy loss, fetal loss, and thrombosis are hallmarks of the disease. Patients with APLS have developed one or more pathogenic auto-antibodies directed against plasma and cell surface proteins. These antibodies are characterized by their affinity for anionic phospholipids. Interactions between APLS antibodies and their protein targets influence a wide variety of biological systems and signaling pathways, including monocytes, platelets, the complement system, and endothelial cells. While much research is currently directed at understanding the mechanisms involved in this autoimmune disease, the key clinical presentation is the hypercoagulable state resulting in thrombosis occurring in essentially any arterial or venous location, as well as numerous obstetrical complications. Treatment of APLS is generally directed at preventing thrombosis and poor pregnancy outcomes by ameliorating the hypercoagulable state.

  19. Moebius syndrome: clinical manifestations in a pediatric patient.

    Science.gov (United States)

    Lima, Luciana Monti; Diniz, Michele Baffi; dos Santos-Pinto, Lourdes

    2009-01-01

    Moebius syndrome is a congenital, nonprogressive disorder clinically characterized by loss of facial expression, impaired stomatognathic system functions, incapacity to close the eyelids, and several oral impairments. The purpose of this paper was to present the clinical manifestations and the dental treatment in a 5-year, 2-month-old male Moebius syndrome patient. The child presented with facial asymmetry, difficulty performing facial mimic movements and pronouncing some letters, and compromised suction, mastication, breathing, and deglutition. An intraoral examination revealed hypofunction of the perioral muscles, cheeks and tongue, ankyloglossia, anterior open bite, and absence of carious lesions and dental anomalies. The dental treatment consisted of frenectomy and further placement of a removable orthodontic appliance with a palatal crib for correction of the anterior open bite. After 12 months of follow-up, anterior open bite decreased and speech, deglutition, and mastication improved.

  20. [The reactions of hypersensitivity: the mechanisms of development, clinical manifestations, principles of diagnostic (a lecture)].

    Science.gov (United States)

    Tukavkina, S Yu; Kharseyeva, G G

    2014-05-01

    The article considers the principles of modern classification of hypersensitivity, pathogenic mechanisms of formation of its various types resulting in development of typical clinical symptoms and syndromes. The knowledge and comprehension of these issues is important for physicians of different specializations since it permits to properly make out and formulate diagnosis and timely send patient for examination and treatment to such specialist as allergist-immunologist. The particular attention was paid to description of pathogenesis of diseases and syndromes underlaid by IgE-mediated type of hypersensitivity since their share is highest and clinical manifestations frequently require emergency medical care. The diagnostic of allergic diseases is to be implemented sequentially (step-by-step) and include common clinical and special (specific) methods. In case of choosing of extent of specialized allergological examination the diagnostic significance of techniques and their safety is to be taken into account concerning condition of patient. The diagnosis is objectively formulated only by complex of examination results. It is worth to remember about possibility of development of syndromes similar to IgE-mediated allergy by their clinical manifestations but belonging to non-allergic type of hypersensitivity. It is important to know main causes, mechanisms and ways of formation of such reactions previously named as anaphylactoid ones.

  1. Narcolepsy: etiology, clinical features, diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Jolanta B. Zawilska

    2012-10-01

    Full Text Available [u][/u] Narcolepsy is a chronic hypersomnia characterized by excessive daytime sleepiness (EDS and manifestations of disrupted rapid eye movement sleep stage (cataplexy, sleep paralysis, and hypnagogic/hypnopompic hallucinations. Mechanisms underlying narcolepsy are not fully understood. Experimental data indicate that the disease is caused by a loss of hypocretin neurons in the hypothalamus, likely due to an autoimmune process triggered by environmental factors in susceptible individuals. Most patients with narcolepsy and cataplexy have very low hypocretin-1 levels in the cerebrospinal fluid. An appropriate clinical history, polysomnogram, and multiple sleep latency test are necessary for diagnosis of the disease. Additionally, two biological markers, i.e., cerebrospinal fluid hypocretin-1 levels and expression of the DQB1*0602 gene, are used. The treatment of narcolepsy is aimed at the different symptoms that the patient manifests. Excessive daytime sleepiness is treated with psychostimulants (amphetamine-like, modafinil and armodafinil. Cataplexy is treated with sodium oxybate (GHB, tricyclic antidepressants, or selective serotonin and noradrenaline reuptake inhibitors. Sleep paralysis, hallucinations, and fragmented sleep may be treated with sodium oxybate. Patients with narcolepsy should follow proper sleep hygiene and avoid strong emotions.

  2. T Helper Cell Subsets in Clinical Manifestations of Psoriasis

    Directory of Open Access Journals (Sweden)

    Marco Diani

    2016-01-01

    Full Text Available Psoriasis is a chronic inflammatory skin disease, which is associated with systemic inflammation and comorbidities, such as psoriatic arthritis and cardiovascular diseases. The autoimmune nature of psoriasis has been established only recently, conferring a central role to epidermal CD8 T cells recognizing self-epitopes in the initial phase of the disease. Different subsets of helper cells have also been reported as key players in the psoriasis pathogenesis. Here, we reviewed the knowledge on the role of each subset in the psoriatic cascade and in the different clinical manifestations of the disease. We will discuss the role of Th1 and Th17 cells in the initiation and in the amplification phase of cutaneous inflammation. Moreover, we will discuss the recently proposed role of tissue resident Th22 cells in disease memory in sites of recurrent psoriasis and the possible involvement of Th9 cells. Finally, we will discuss the hypothesis of a link between T helper cell subsets recirculating from the skin and the systemic manifestations of psoriasis.

  3. T Helper Cell Subsets in Clinical Manifestations of Psoriasis

    Science.gov (United States)

    Diani, Marco; Altomare, Gianfranco

    2016-01-01

    Psoriasis is a chronic inflammatory skin disease, which is associated with systemic inflammation and comorbidities, such as psoriatic arthritis and cardiovascular diseases. The autoimmune nature of psoriasis has been established only recently, conferring a central role to epidermal CD8 T cells recognizing self-epitopes in the initial phase of the disease. Different subsets of helper cells have also been reported as key players in the psoriasis pathogenesis. Here, we reviewed the knowledge on the role of each subset in the psoriatic cascade and in the different clinical manifestations of the disease. We will discuss the role of Th1 and Th17 cells in the initiation and in the amplification phase of cutaneous inflammation. Moreover, we will discuss the recently proposed role of tissue resident Th22 cells in disease memory in sites of recurrent psoriasis and the possible involvement of Th9 cells. Finally, we will discuss the hypothesis of a link between T helper cell subsets recirculating from the skin and the systemic manifestations of psoriasis. PMID:27595115

  4. Clinical manifestation, imaging, and genotype analysis of two pedigrees with spinocerebellar ataxia.

    Science.gov (United States)

    Peipei, Liu; Yang, Liu; Weihong, Gu; Xiaonan, Song

    2011-12-01

    The objective of this study was to analyze the clinical manifestation, imaging characteristics, genotype, and the relationship between the three aforementioned parameters in two pedigrees suffering from spinocerebellar ataxia. To evaluate the clinical manifestation of the two pedigrees and to compare the characteristics, we performed the MRI analysis of some patients from both pedigrees, while 2 ml of the peripheral blood sample was collected for gene analysis. The gene analysis data showed that pedigree 1 was certified spinocerebellar ataxia type-2 (SCA2); the CAG repeats in the proband, proband's mother, and proband's brother were 44, 36, and 38, respectively. The MRI revealed brainstem cerebellar atrophy and "cross sign" and "ordinate sign" of pons. Pedigree 2 was certified SCA1; the CAG repeats of the proband, proband's aunt, and proband's asymptomatic cousin were 60, 51, and 52, respectively. The MRI revealed cerebellar atrophy in these individuals. We, therefore, concluded that it was difficult to diagnose the SCA subset solely through the clinical manifestation. The imaging characteristics analysis and final diagnosis depended basically on gene analysis data.

  5. Obesity and heart failure: epidemiology, pathophysiology, clinical manifestations, and management.

    Science.gov (United States)

    Alpert, Martin A; Lavie, Carl J; Agrawal, Harsh; Aggarwal, Kul B; Kumar, Senthil A

    2014-10-01

    Obesity is a risk factor for heart failure (HF) in both men and women. The mortality risk of overweight and class I and II obese adults with HF is lower than that of normal weight or underweight adults with HF of comparable severity, a phenomenon referred to as the obesity paradox. Severe obesity produces hemodynamic alterations that predispose to changes in cardiac morphology and ventricular function, which may lead to the development of HF. The presence of systemic hypertension, sleep apnea, and hypoventilation, comorbidities that occur commonly with severe obesity, may contribute to HF in such patients. The resultant syndrome is known as obesity cardiomyopathy. Substantial weight loss in severely obese persons is capable of reversing most obesity-related abnormalities of cardiac performance and morphology and improving the clinical manifestations of obesity cardiomyopathy.

  6. Clinical Manifestations of Hyper IgE Syndromes

    Directory of Open Access Journals (Sweden)

    Alexandra F. Freeman

    2010-01-01

    Full Text Available Over the last 4 years, three genetic etiologies of hyper IgE syndromes have been identified: STAT3, DOCK8, and Tyk2. All of these hyper IgE syndromes are characterized by eczema, sinopulmonary infections, and greatly elevated serum IgE. However, each has distinct clinical manifestations. Mutations in STAT3 cause autosomal dominant HIES (Job’s syndrome, which is unique in its diversity of connective tissue, skeletal, and vascular abnormalities. DOCK8 deficiency is characterized by severe cutaneous viral infections such as warts, and a predisposition to malignancies at a young age. Only one individual has been identified with a hyper IgE phenotype associated with Tyk2 deficiency, which is characterized by nontuberculous mycobacterial infection. The identification of these genetic etiologies is leading to advances in understanding the pathogenesis of these syndromes with the goal of improving treatment.

  7. Pathogenesis and clinical manifestations of juvenile rheumatoid arthritis.

    Science.gov (United States)

    Hahn, Youn-Soo; Kim, Joong-Gon

    2010-11-01

    Juvenile rheumatoid arthritis (JRA) is the most common rheumatic childhood disease; its onset is before 16 years of age and it persists for at least 6 weeks. JRA encompasses a heterogeneous group of diseases that is classified according to 3 major presentations: oligoarthritis, polyarthritis, and systemic onset diseases. These presentations may originate from the same or different causes that involve interaction with specific immunogenetic predispositions, and result in heterogeneous clinical manifestations. An arthritic joint exhibits cardinal signs of joint inflammation, such as swelling, pain, heat, and loss of function; any joint can be arthritic, but large joints are more frequently affected. Extra-articular manifestations include high fever, skin rash, serositis, and uveitis. The first 2 types of JRA are regarded as T helper 1 (Th1) cell-mediated inflammatory disorders, mainly based on the abundance of activated Th1 cells in the inflamed synovium and the pathogenetic role of proinflammatory cytokines that are mainly produced by Th1 cell-stimulated monocytes. In contrast, the pathogenesis of systemic onset disease differs from that of other types of JRA in several respects, including the lack of association with human leukocyte antigen type and the absence of autoantibodies or autoreactive T cells. Although the precise mechanism that leads to JRA remains unclear, proinflammatory cytokines are thought to be responsible for at least part of the clinical symptoms in all JRA types. The effectiveness of biologic therapy in blocking the action of these cytokines in JRA patients provides strong evidence that they play a fundamental role in JRA inflammation.

  8. [Diagnosis and Clinical Examination of Autoinflammatory Syndrome].

    Science.gov (United States)

    Ida, Hiroaki

    2015-05-01

    Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways. The main monogenic autoinflammatory syndromes are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndrome (CAPS), Blau syndrome, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. We diagnosed these syndromes as clinical manifestations and performed genetic screening. Many serum cytokines are elevated in patients with autoinflammatory syndrome, but this is not disease-specific. The pathogeneses of many autoinflammatory syndromes are known to be related to inflammasomes, which are multiprotein complexes that serve as a platform for caspase 1 activation and interleukin-1β (IL-1β) and IL-18 muturation. Especially, NLRP3 inflammasomes may play a crucial role in the intiation and progression of FMF and CAPS. In the future, we hope to discover new clinical examinations which can provide evidence of inflammasome activation independent of genetic screening. In this issue, I introduce autoinflammatory syndromes and discuss the diagnosis and clinical examination of these syndromes.

  9. Clinical manifestations and outcomes in severe ulcerative colitis

    Institute of Scientific and Technical Information of China (English)

    YANG Xuesong; YAO Wei; LIU Wenbin; LI Jun; LU Yumin

    2007-01-01

    In order to evaluate the clinical manifestations and outcomes of severe ulcerative colitis (UC),we retrospectively reviewed 41 patients with severe UC from 144 consecutively hospitalized UC cases from 1988 to 2004.Data recorded included onset,symptoms,signs,laboratory results,endoscopic,radiologic and pathologic findings,the clinical treatment process and follow-up.Of these severe cases,92.7%(38/41)had pancolitis.Clinically,36.9%(15/41)were categorized as first onset type,36.9%(15/41)were chronic persistent and 26.8%(11/41)were chronic recurrent.Steroids played a main role in the remission of severe UC(61.0%).Thirty-one cases(75.6%) were relieved by drug therapy.Seven cases(17.1%) progressed to the need for operation.An early age of onset,pancolitis,low hemoglobin and serum albumin levels,and the need for intravenous steroids tended to be associated with the need for surgery.In conclusion,most of the severe UC patients respond well to drug therapy,but for individuals who are unresponsive to drug therapy,or for those depending on steroids,after a reasonable duration of treatment,the necessity for surgery should be considered.

  10. Multiple Embolism in a Female Patient with Infective Endocarditis: Low Back Pain and Hematuria as the Initial Clinical Manifestations

    Directory of Open Access Journals (Sweden)

    Vieira Marcelo Luiz Campos

    2002-01-01

    Full Text Available A 59-year-old female patient with mitral valve prolapse and a previous history of lumbosacral spondyloarthrosis and lumbar disk hernia had an episode of infective endocarditis due to Streptococcus viridans, which evolved with peripheral embolism to the left kidney, spleen, and left iliac artery, and intraventricular cerebral hemorrhage. Her clinical manifestations were low back pain and hematuria, which were initially attributed to an osteoarticular condition. Infective endocarditis is a severe polymorphic disease with multiple clinical manifestations and it should always be included in the differential diagnosis by clinicians.

  11. Clinical and Laboratory Manifestations of Meningococcemia in Children

    Directory of Open Access Journals (Sweden)

    S Mamishi

    2006-08-01

    Full Text Available Lack of vaccination and modern health care facilities in many countries including Iran let meningococcemia to remain as a serious challenging disorder especially among children and in spite of improved diagnosis and earlier treatment its prognosis is still dismal. This study describes 68 cases (54.4% male of proved meningococcemia hospitalized since 1992 up to the end of 2002 in Children Medical Center Hospital, Tehran, Iran. Infants of 6 to 12 month old were a major concern in number (14.7% and severity of disease. 5.9% of the cases have had at least two hospitalization history for meningococcal septicemia and 19.1% of the patients had Systemic Lupus Erythematosus (SLE, nephrotic syndrome or chronic liver disease in their past medical history. Meningeal irritation signs were seen in 55.9% and cerebrospinal fluid (CSF smear was positive in 71.4% and culture was positive in 48.5% of patients. Meningococcal septicemia ended in shock (38.2%, Disseminated intravascular coagulation (DIC (7.4%, thrombocytopenia (10.3%, arthritis (4.4%,ocular complications (2.9%, pericarditis (2.9% and seizure (8.8% in 51 of the cases, and death occurred in 7 patients. This study shows that the manifestation of the disease is similar to those described elsewhere except for lower pneumonia and no seasonal variations.

  12. [Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case

    Science.gov (United States)

    Silva, E O; Freitas, E M; Costa, S M; Duarte, A R

    1999-01-01

    OBJECTIVE: To describe an atypical case of Down syndrome presenting with additional clinical manifestations that might be components of Kabuki (Niikawa-Kuroki) syndrome.CLINICAL REPORT: We report the clinical history of a 19-month-old girl with a 47,XX, +21 karyotype, who presented brachycephaly, flat face, long palpebral fissures, eversion of the lateral portion of the lower eyelids, arched eyebrows with sparse lateral regions, long eyelashes, epicanthus, cortical cataract, small ears, protruding tongue, muscular hypotonia, developmental delay, hyperflexibility of joints, brachydactyly, and dermatoglyphic abnormalities.CONCLUSION: The diagnosis of Down syndrome was confirmed cytogenetically. However, the presence of additional anomalies - mainly in the ocular region - suggested that the child might also have the Kabuki syndrome.

  13. MHC associations with clinical and autoantibody manifestations in European SLE.

    Science.gov (United States)

    Morris, D L; Fernando, M M A; Taylor, K E; Chung, S A; Nititham, J; Alarcón-Riquelme, M E; Barcellos, L F; Behrens, T W; Cotsapas, C; Gaffney, P M; Graham, R R; Pons-Estel, B A; Gregersen, P K; Harley, J B; Hauser, S L; Hom, G; Langefeld, C D; Noble, J A; Rioux, J D; Seldin, M F; Vyse, T J; Criswell, L A

    2014-04-01

    Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease affecting multiple organ systems and characterized by autoantibody formation to nuclear components. Although genetic variation within the major histocompatibility complex (MHC) is associated with SLE, its role in the development of clinical manifestations and autoantibody production is not well defined. We conducted a meta-analysis of four independent European SLE case collections for associations between SLE sub-phenotypes and MHC single-nucleotide polymorphism genotypes, human leukocyte antigen (HLA) alleles and variant HLA amino acids. Of the 11 American College of Rheumatology criteria and 7 autoantibody sub-phenotypes examined, anti-Ro/SSA and anti-La/SSB antibody subsets exhibited the highest number and most statistically significant associations. HLA-DRB1*03:01 was significantly associated with both sub-phenotypes. We found evidence of associations independent of MHC class II variants in the anti-Ro subset alone. Conditional analyses showed that anti-Ro and anti-La subsets are independently associated with HLA-DRB1*0301, and that the HLA-DRB1*03:01 association with SLE is largely but not completely driven by the association of this allele with these sub-phenotypes. Our results provide strong evidence for a multilevel risk model for HLA-DRB1*03:01 in SLE, where the association with anti-Ro and anti-La antibody-positive SLE is much stronger than SLE without these autoantibodies.

  14. Clinical manifestations and significance of post-traumatic thoracolumbar syringomyelia

    Institute of Scientific and Technical Information of China (English)

    邱勇; 朱泽章; 吕锦瑜; 王斌; 李卫国; 朱丽华

    2004-01-01

    Objective: To analyze the pathogenic mechanism and the clinical significance of post-traumatic thoracolumbar syringomyelia through reviewing the clinical manifestations. Methods: The data of 15 patients (14 males and 1 female, aged from 28 to 56 years, with an average of 36 years) with post-traumatic syringomyelia treated in our hospital from December 1997 to February 2002 were studied retrospectively. Two patients suffered from T11 fractures, 7 from T12 fractures and 6 from L1 fractures. There were 12 patients with burst fractures and 3 with fracture dislocations. Anterior decompression, bone graft, bone fusion and internal fixation were made on 6 patients, posterior decompression, bone graft, bone fusion and internal fixation on 1 patient, and non-surgical treatment on 8 patients. Results: Syringomyelia of the patients was diagnosed accurately with magnetic resonance imaging at 0.5-4 years after the original thoracolumbar fracture. The cavern was round in 6 cases, elliptic in 6 cases, and irregular in 3 cases. The patients also suffered from pain (80%), myodynamia attenuation in lower extremities (66.7%), aggravated spasm (46.7%), sensation loss or hypesthesia (46.7%), decreased coordinate function of lower extremities (20%) and autonomic nerve symptom (6.7%).Conclusions: Post-traumatic thoracolumbar syringomyelia should be suspected if the patient has new neurological symptoms, such as myodynamia attenuation in lower extremities, after the neural function becomes stable for certain time.

  15. PSORIATIC ARTHRITIS: CLASSIFICATION, CLINICAL PRESENTATION, DIAGNOSIS, TREATMENT

    Directory of Open Access Journals (Sweden)

    T. V. Korotaeva

    2014-01-01

    Full Text Available The lecture gives basic information about psoriatic arthritis (PsA, a chronic inflammatory disease of the joints, spine, and enthesises from a group of spondyloarthritis. It describes the epidemiology of the disease and considers current ideas on its pathogenesis and factors influencing the development of PsA in psoriatic patients. The classification and clinical forms of PsA are presented. The major clinical manifestations of the disease are indicated to include peripheral arthritis, enthesitis, dactylitis, and spondylitis. The diagnosis of the disease is noted to be established on the basis of its detected typical clinical and radiological signs, by applying the CASPAR criteria. A dermatologist, rheumatologist, and general practitioner screen PsA, by actively detecting complaints, characteristic clinical and radiological signs of damage to the joints, and/or spine, and/or enthesises and by using screening questionnaires. There are data that patients with PsA are observed to be at higher risk for a number of diseases type 2 diabetes mellitus hypertension, coronary heart disease, obesity, metabolic syndrome, inflammatory bowel diseases, etc. The aim of current pharmacotherapy for PsA is to achieve remission or minimal activity of clinical manifestations of the disease, to delay or prevent its X-ray progression, to increase survival, to improve quality of life in patients, and to reduce the risk of comorbidities. The paper considers groups of medicines used to treat the disease, among other issues, information about biological agents (BA registered in the Russian Federation for the treatment of PsA. Most patients are mentioned to show a good response to this therapy option just 3–6 months after treatment initiation; however, some of them develop primary inefficiency. In this case, switching one BA to another is recommended. Some patients using a BA develop secondary treatment inefficiency, which is firstly due to the appearance of

  16. Sesame seed allergy: Clinical manifestations and laboratory investigations

    Directory of Open Access Journals (Sweden)

    Fazlollahi MR.

    2007-10-01

    Full Text Available Background: Plant-origin foods are among the most important sources of food allergic reactions. An increase in the incidence of sesame seed allergy among children and adults has been reported in recent years. The aim of this preliminary study was to investigate the prevalence, importance and clinical manifestations of sesame allergy among Iranian patients.Methods: In a cross-sectional survey, 250 patients with suspected IgE-mediated food allergies completed a questionnaire and underwent skin prick tests with sesame extract as well as cross-reacting foods (walnut, soya and peanut. Total IgE and sesame-specific IgE levels were measured. Patients with positive skin test reactions and/or IgE specific for sesame without clinical symptoms were considered sensitive to sesame. The patients who also had clinical symptoms with sesame consumption were diagnosed as allergic to sesame.Results: Of the 250 patients enrolled in this study, 129 were male and 121 female, with a mean age of 11.7 years. The most common food allergens were cow's milk, egg, curry, tomato and sesame. Sesame sensitivity was found in 35 patients (14.1%. Only five patients (2% had sesame allergy. Sesame-sensitive patients had a significantly higher frequency of positive prick test to cross-reacting foods when compared to non-sensitized patients (p=0.00. The type of symptom was independent of gender and age of the patients, but urticaria and dermatitis-eczema were significantly more frequent in sensitized patients (p=0.008.Conclusions: This is the first study addressing the prevalence of sesame seed allergy in Iranian population. We found sesame to be a common and important cause of food allergy. The panel of foods recommended for use in diagnostic allergy tests should be adjusted.

  17. Clinical characteristics and imaging manifestations of AIDS complicated with disseminated Penicillium marneffei infection

    Institute of Scientific and Technical Information of China (English)

    LU Pu-xuan; ZHU Wen-ke; ZHAN Neng-yong; LIU Yan; CHEN Xin-chun; YE Ru-xin; CAI Li-sheng; ZHU Bo-ping

    2006-01-01

    Objective To investigate the clinical characteristics and imaging manifestations of AIDS complicated with disseminated Penicillium marneffei (PM) infection. Methods A total of 12 patients with AIDS complicated with disseminated PM infection were collected and the symptoms, signs, laboratory examination results and image manifestations of these patients were analyzed retrospectively. Results (1) The diagnosis of PM infection in all the 12 cases were confirmed by peripheral blood culture.All the 12 cases (100%) had irregular fever (38-41 ℃) and enlarged lymph nodes, 8 cases (66%) had skin rashes; 8 cases (66%) had hepatomegaly; 9 cases (75%) had splenomegaly while 8 cases (66%) had anemia. (2) Imaging manifestation: Five cases manifested bilateral pulmonary disseminated miliary nodular shadows or lattice signs; 1 case showed enlarged hilar lymph node and 2 zases showed patchy shadow with pleuritis. One case presented sub-pleural curve line shadow at the posterior part of the right lower lung,and adhesion between the intestinal wall and intestinal mesentery in mass form in the abdomen by CT examination. Conclusion Patients suffering from AIDS (CD4T lymphocytes <50/μ L) with impaired immunity might be susceptible to complication of disseminated PM infection, which presents mainly damage of multiple organs and symptoms such as fever; enlargement of liver,spleen and lymph nodes, as well as specific skin maculopapular rashes. Imaging manifestations in the lungs were revealed as miliary nodular shadows and lattice-like shadows. Intensified abdominal CT might reveal presence of several enlarged postperitoneal lymph nodes and intestinal adhesion in shape of "cakes".

  18. Clinical manifestations and outcome of patients with human immunodeficiency virus infection at tertiary care teaching hospital

    Directory of Open Access Journals (Sweden)

    Virendra Chandrashekhar Patil

    2016-01-01

    Full Text Available Background: AIDS has become chronic illness which is well treated with antiretroviral therapy and management of opportunistic infections (OIs. Aims and Objectives: The study clinical profile and outcome of human immunodeficiency virus (HIV seropositive patients. Materials and Methods: This was retrospective observational study carried out over a period of 1 year (January 2011–December 2011. All HIV patients admitted in medicine ward, and ICU were enrolled. Statistical analysis was performed using SSPE statistical software trial version 11. The P< 0.05 was considered as statistically significant. Results: Of total 111 patients with a diagnosis of HIV/AIDS, 75 (67.56% were male and 36 (32.43% were female patients. A total 52 (46.84% patients presented with respiratory manifestations, of them 23 (44.23% had pulmonary tuberculosis (TB, 6 (11.53% had tubercular effusion, and 3 (5.76% had Pneumocystis jirovecii pneumonia. Respiratory manifestations including pulmonary TB were the most common presentation (P< 0.001. Total 27 (24.32% patients were presented with the neurological manifestation of them 8 (29.62% had a cerebro-vascular accident, 5 (18.51% had cryptococcal meningitis, 4 (14.81% had tubercular meningitis, and 1 (3.70% had progressive multifocal leukoencephalopathy. Total 12 (38.70% had acute gastroenteritis 6 (19.35% had oral candidiasis, 8 (25% had general tonic clonic seizure and 7 (21.87% had pyrexia of unknown origin, 6 (18.75% had septicemia, 6 (18.75% had acute renal failure, and 6 (94.11% had anemia. A total 11 (9.90% patients succumbed. Conclusions: Overall respiratory manifestations were the common presentation in a present cohort of HIV seropositive patients and TB was the most common OI and the cerebrovascular accident was the most common neurological manifestation.

  19. A multicentre study of 513 Danish patients with systemic lupus erythematosus. I. Disease manifestations and analyses of clinical subsets

    DEFF Research Database (Denmark)

    Jacobsen, Søren; Petersen, J; Ullman, S

    1998-01-01

    duration of follow-up was 8.2 years from diagnosis and 12.8 years from first symptom. This paper describes the most common clinical and laboratory manifestations and their relationship to sex and age at the time of onset and diagnosis. Cluster analysis revealed three clinically defined clusters at the time...... of disease onset. Cluster 1 (57% of patients) consisted of relatively elderly patients without nephropathy or malar rash, but with a high prevalence of discoid lesions. Cluster 2 (18%) consisted of patients with nephropathy, a third of whom also developed serositis and lymphopenia. The patients of the third...

  20. A Diagnostic Approach to Autoimmune Disorders: Clinical Manifestations: Part 1.

    Science.gov (United States)

    Sahai, Shashi; Adams, Matthew; Kamat, Deepak

    2016-06-01

    Autoimmune disorders are not commonly encountered in a general pediatric practice, but they may mimic many other disorders. Although they occur infrequently, it is always important to pause and consider an autoimmune disorder in the differential diagnosis. A detailed history and careful physical examination play an important role in guiding laboratory evaluation for these disorders. Many autoimmune disorders present with symptoms that involve multiple organ systems. The common symptoms that may make one consider a rheumatic disorder in the differential diagnosis are fever, fatigue, joint pain, rash, ulcers, and muscle weakness. The most common reason for referral to a pediatric rheumatologist is joint pain. A good joint examination may be performed by the use of the pediatric Gait, Arms, Legs, Spine screen, which is a validated screening tool. A small portion of children with fever of unknown origin may have an autoimmune disorder, with a majority of them having an infectious disease. Some patients with undiagnosed rheumatic disorders may present to the emergency. department. The characteristics of historic and clinical examination features of various autoimmune disorders are discussed in this article. [Pediatr Ann. 2016;45(6):e223-e229.].

  1. Clinical manifestations and oral findings in Fraser syndrome.

    Science.gov (United States)

    Diniz, Michele Baffi; Lima, Luciana Monti; Sacono, Nancy Tomoko; de Paula, Andréia Bolzan; dos Santos-Pinto, Lourdes

    2007-01-01

    This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient. Fraser syndrome is a rare recessive autosomal genetic disorder characterized by multisystemic malformation, usually comprising cryptophthalmos, syndactyly, and renal defects. The child presented with: (1) hydrocephaly; (2) face asymmetry; (3) low-inserted ears; (4) flat nose bridge; (5) cryptophthalmos; (6) bilateral absence of eyeballs; (7) hypertelorism; (8) syndactyly on the left fingers and toes; (9) skeletal defects; and (10) lower limb asymmetry. The intraoral examination revealed: (1) complete primary denture; (2) malocclusion; (3) tooth crowding; (4) ogival palate; (5) normal labial frena; (6) absence of lingual frenum (not compromising the tongue movements); (7) parched lips; (8) supragingival calculus adhered to all tooth surfaces; and (9) moderate gingivitis. The dental treatment consisted of periodic monitoring of the patient's oral health status and supragingival scaling associated with topical applications of 0.12% chlorhexidine digluconate gel at 2-week intervals to reduce gingivitis.

  2. Gasperini syndrome as clinical manifestation of pontine demyelination

    Directory of Open Access Journals (Sweden)

    Krasnianski M

    2009-09-01

    Full Text Available Abstract The Gasperini syndrome is a very rare brainstem disease characterized by the typical combination of ipsilateral lesions of the cranial nerves V-VII and dissociated contralateral hemihypesthesia, whereas both contralateral and ipsilateral hypacusis was described. Since the first description in 1912, only a few cases of this crossed brainstem syndrome were published so far. Pontine infarction and bleedings were the reported causes of the syndrome. Here we report a 44-year-old man with the classical Gasperini syndrome due to pontine demyelination in multiple sclerosis. The clinical findings were correlated with changes on MRI. The present case shows that classical crossed brainstem syndromes are topological terms not invariably associated with brainstem ischemia in particular vascular areas and may contribute to the differential diagnosis of peripheral facial nerve palsy.

  3. Clinical and Laboratory Diagnosis of Intestinal Tuberculosis

    Institute of Scientific and Technical Information of China (English)

    Xiao-Chun Shi; Li-Fan Zhang; Yue-Qiu Zhang; Xiao-Qing Liu; Gui-Jun Fei

    2016-01-01

    Background:Tuberculosis (TB) remains a worldwide problem.Intestinal TB (ITB) constitutes a major public health problem in developing countries and has been associated with significant morbidity and mortality.The aim of this study was to characterize the clinical,radiological,endoscopic,and pathological features of ITB and to define the strategy for establishing the diagnosis.Methods:A retrospective study (from January 2000 to June 2015) was carried out in Peking Union Medical College Hospital and all hospitalized cases were diagnosed as ITB during the study period were included.The relevant clinical information,laboratory results,microbiological,and radiological investigations were recorded.Results:Of the 85 cases,61 cases (71.8%) were ranged from 20 to 50 years.The ileocecal region was involved in about 83.5% (71/85) of patients.About 41.2% (35/85) of patients had co-existing extra ITB,especially active pulmonary TB.Abdominal pain (82.4%) was the most common presenting symptom followed by weight loss (72.9%) and fever (64.7%).Both T-cell spot of TB test (T-SPOT.TB) and purified protein derivatives (PPD) tests were performed in 26 patients:20 (76.9%) positive T-SPOT.TB and 13 (50.0%) positive PPD were detected,with a statistical significant difference (P =0.046).Twenty cases (23.5%) were histopathology and/or pathogen confirmed TB;27 cases (31.8%) were diagnosed by clinical manifestation consistent with ITB and evidence of active extra ITB;38 cases (44.7%) were diagnosed by good response to diagnostic anti-TB therapy.Conclusions:ITB is difficult to diagnose even with modem medical techniques due to its nonspecific clinical and laboratory features.At present,combination of clinical,endoscopic,radiological,and pathological features continues to be the key to the diagnosis of ITB.

  4. COXITIS IN ANKYLOSING SPONDYLITIS: COMPARISON OF CLINICAL MANIFESTATIONS WITH ULTRASOUND STUDY DATA

    Directory of Open Access Journals (Sweden)

    M. V. Podryadnova

    2014-01-01

    Full Text Available Objective: to compare the clinical manifestations of coxitis with the data of HJ ultrasound study (USS on inpatient samples.Subjects and methods. This cross-sectional study enrolled 220 AS patients meeting the modified 1984 New York criteria who had been consecutively admitted to the clinic of the V.A. Nasonova Research Institute of Rheumatology in 2012–2013. A specially designed schedule was filled out for each patient. Disease activity was measured by the BASDAI and ASDAS and functional status was assessed by the BASFI. Coxitis was diagnosed on the basis of clinical signs, such as HJ pain and/or movement limitations on patient admission to the clinic. All the patients underwent HJ USS.Results. The clinical signs of coxitis were found in 162 (73.6% patients. In 107 (66% of them, pain intensity recorded by the digital rating scale if only in one joint was 4 scores or higher. The patients with and without the clinical signs of coxitis were matched for age and disease duration. However, in coxitis, high disease activity was detected significantly more frequently and BASFI scores were also significantly higher. USS indicated that 119 (54% patients had joint effusion. HJ effusion was found in 104 (63% of the 162 patients with clinically manifest coxitis; and among the119 patients with USS verified coxitis, 87% were seen to have clinical signs of joint injury and 104 (47% patients had both clinical and ultrasound signs of HJ injury simultaneously. USS revealed no signs of synovitis in 58 patients with the clinical signs of HJ lesion.Conclusion. Among the patients with AS, the rate of coxitis runs to 51%. The patients with coxitis have higher disease activity and more pronounced functional impairments than those without HJ injury. Coxitis causes considerably diminished working ability. In a number of cases, USS allows, when the clinical manifestations are similar, a differential diagnosis between synovitis and enthesitis located in this

  5. Clinical and Laboratory Diagnosis of Intestinal Tuberculosis

    Directory of Open Access Journals (Sweden)

    Xiao-Chun Shi

    2016-01-01

    Conclusions: ITB is difficult to diagnose even with modern medical techniques due to its nonspecific clinical and laboratory features. At present, combination of clinical, endoscopic, radiological, and pathological features continues to be the key to the diagnosis of ITB.

  6. Prevalence and clinical manifestation of lymphomas in North Eastern Nigeria

    Directory of Open Access Journals (Sweden)

    Mava Yakubu

    2015-01-01

    Full Text Available BACKGROUND: Lymphomas are one of the commonest childhood malignancies. Due to varied clinical features many patients are misdiagnosed and treated for other diseases. It is imperative to keep health workers informed about the current trend of lymphomas in northeastern Nigeria to facilitate prompt diagnosis and treatment. OBJECTIVE: To evaluate the extent of lymphomas at presentation and to define the pattern of presentation in relation to gender and site. MATERIALS AND METHODS: Retrospective analysis of cases of lymphomas over a 15 year period was conducted. Structured questionnaires were used to document demographic characteristics and clinical features. The non-Hodgkin's lymphoma (NHL and Hodgkin's lymphoma (HL cases were categorized using standard classification schemes. Data were analyzed using the Statistical Package for Social Sciences (SPSS software version 16, Illinois, Chicago, USA. Spearman's correlation and Student's t-test were applied where appropriate. A P value < 0.05 was considered significant. RESULTS: Fifty cases of lymphoma, 10 (20% belong to HL and 40 (80% belong to NHL. Lymphoma is common in male, though the male to female preponderance was not significant in both the cases (P = 0.107 and 0.320, respectively. Maxilla was the commonest site of primary malignancy (36% and late presentation of patients were observed. New trend was noticed, the NHL patients present commonly with severe symptoms than HL (P = 0.038. HL was dominated by lymphocytic predominant type, while NHL was dominated by the small non cleaved cells (Burkitt's lymphoma (70%. CONCLUSION: Childhood lymphoma in northeastern Nigeria has a slight shift in varied clinical presentation in favor of NHL. Patients in this study had late presentation.

  7. A CLINICAL STUDY OF MUCOCUTANEOUS MANIFESTATIONS OF HIV

    Directory of Open Access Journals (Sweden)

    Murugesh

    2014-09-01

    Full Text Available BACKGROUND AND OBJECTIVES: Mucocutaneous manifestations are extremely common and varied in HIV infected patients. The present study was done to know the overall prevalence of mucocutaneous manifestations in HIV infected patients and to know the frequency of individual manifestations. METHODS: A total of 150 HIV seropositive patients from voluntary counseling and testing center were included in the study. Detailed history, thorough physical examination and relevant investigations were done to confirm the mucocutaneous manifestations when present. RESULTS: Ninety two percent (92% of 150 positives had mucocutaneous manifestations at presentation. Majority (75.34% of the patients belonged to the age group 25 – 49 years and male to female ratio was 1.08:1. Oral candidiasis was the most common (33.33% manifestation. Other common infectious conditions seen were HSV (16.67% dermatophytosis (12.67%, genital candidiasis (9.33%, herpes genitalis (10%. Common non-infectious disorders included generalized xerosis and ichthyosis (14.66%, generalized hyperpigmentation (11.33% and seborrheic dermatitis (6.67%. Hair and nail changes included diffuse alopecia (18%, trichomegaly (6.67% and melanonychia (32%.Pruritic papular dermatitis was seen in 16%. INTERPRETATION AND CONCLUSION: This study thus emphasizes the need for dermatological evaluation of all patients with HIV infection for early management and improved quality of life.

  8. Early clinical manifestations associated with death from visceral leishmaniasis.

    Directory of Open Access Journals (Sweden)

    Valdelaine Etelvina Miranda de Araújo

    Full Text Available BACKGROUND: In Brazil, lethality from visceral leishmaniasis (VL is high and few studies have addressed prognostic factors. This historical cohort study was designed to investigate the prognostic factors for death from VL in Belo Horizonte (Brazil. METHODOLOGY: The analysis was based on data of the Reportable Disease Information System-SINAN (Brazilian Ministry of Health relating to the clinical manifestations of the disease. During the study period (2002-2009, the SINAN changed platform from a Windows to a Net-version that differed with respect to some of the parameters collected. Multivariate logistic regression models were performed to identify variables associated with death from VL, and these were included in prognostic score. PRINCIPAL FINDINGS: Model 1 (period 2002-2009; 111 deaths from VL and 777 cured patients included the variables present in both SINAN versions, whereas Model 2 (period 2007-2009; 49 deaths from VL and 327 cured patients included variables common to both SINAN versions plus the additional variables included in the Net version. In Model 1, the variables significantly associated with a greater risk of death from VL were weakness (OR 2.9; 95%CI 1.3-6.4, Leishmania-HIV co-infection (OR 2.4; 95%CI 1.2-4.8 and age ≥60 years (OR 2.5; 95%CI 1.5-4.3. In Model 2, the variables were bleeding (OR 3.5; 95%CI 1.2-10.3, other associated infections (OR 3.2; 95%CI 1.3-7.8, jaundice (OR 10.1; 95%CI 3.7-27.2 and age ≥60 years (OR 3.1; 95%CI 1.4-7.1. The prognosis score was developed using the variables associated with death from VL of the latest version of the SINAN (Model 2. The predictive performance of which was evaluated by sensitivity (71.4%, specificity (73.7%, positive and negative predictive values (28.9% and 94.5% and area under the receiver operating characteristic curve (75.6%. CONCLUSIONS: Knowledge regarding the factors associated with death from VL may improve clinical management of patients and contribute to lower

  9. The changing faces of IgG4-related disease: Clinical manifestations and pathogenesis.

    Science.gov (United States)

    Islam, Arshia Duza; Selmi, Carlo; Datta-Mitra, Ananya; Sonu, Rebecca; Chen, Mingyi; Gershwin, M Eric; Raychaudhuri, Siba P

    2015-10-01

    Since the earliest reports in 2001, immunoglobulin G4 (IgG4)-related disease has been defined as an autoimmune systemic disease characterized by the lymphoplasmacytic infiltration of affected tissues leading to fibrosis and obliterative phlebitis along with elevated serum IgG4 levels. Prior to this unifying hypothesis, a plethora of clinical manifestations were considered as separate entities despite the similar laboratory profile. The pathology can be observed in virtually all organs and may thus be a challenging diagnosis, especially when the adequate clinical suspicion is not present or when obtaining a tissue biopsy is not feasible. Nonetheless, the most frequently involved organs are the pancreas and exocrine glands but these may be spared. Immunosuppressants lead to a prompt clinical response in virtually all cases and prevent histological sequelae and, as a consequence, an early differential diagnosis from other conditions, particularly infections and cancer, as well as an early treatment should be pursued. We describe herein two cases in which atypical disease manifestations were observed, i.e., one with recurrent neck lymph node enlargement and proptosis, and one with jaundice. Our understanding of the pathogenesis of IgG4-related disease is largely incomplete but data support a significant role for Th2 cytokines with the contribution of innate immunity factors such as Toll-like receptors, macrophages and basophils. Further, macrophages activated by IL4 overexpress B cell activating factors and contribute to chronic inflammation and the development of fibrosis. We cannot rule out the possibility that the largely variable disease phenotypes reflect different pathogenetic mechanisms and the tissue microenvironment may then contribute to the organ involvement.

  10. Brown tumor of the mandible as first manifestation of primary hyperparathyroidism: diagnosis and treatment.

    Science.gov (United States)

    Fernández-Sanromán, Jacinto; Antón-Badiola, Iosu María; Costas-López, Alberto

    2005-01-01

    Brown tumor is one of the lesions that develop in patients with hyperparathyroidism. Any of the skeletal bones can be affected including the cranio-maxillofacial ones. Most of the times the brown tumor appears after a final diagnosis of hyperparathyroidism is made. However brown tumor can be the first clinical sign of the disease. A clinical case in which a brown tumor located in the anterior part of the mandible appears as the first sign of primary hyperparathyroidism is presented. The possible differential clinical diagnosis and the recommended treatments are revised.

  11. Intramuscular manifestation of non-Hodgkin lymphoma and myeloma: Prevalence, clinical signs, and computed tomography features

    Energy Technology Data Exchange (ETDEWEB)

    Surov, Alexey; Spielmann, Rolf-Peter; Behrmann, Curd (Dept. of Radiology, Martin Luther Univ., Halle-Wittenberg (Germany)), e-mail: alex.surow@medizin.uni-halle.de; Holzhausen, Hans-Juergen (Dept. of Hematology/Oncology, Martin Luther Univ., Halle-Wittenberg (Germany)); Arnold, Dirk (Dept. of Pathology, Martin Luther Univ., Halle-Wittenberg (Germany)); Schmidt, Joerg (Dept. of Medical Statistics and Controlling, Martin Luther Univ., Halle-Wittenberg (Germany))

    2010-01-15

    Background: Intramuscular manifestations of malignant immuno proliferative diseases (IMMID) are very rare. Purpose: To determine the prevalence and the clinical features of IMMID in a large series of patients, and to analyze their radiological appearances. Material and Methods: Between 1997 and 2007, 20 patients with IMMID (non-Hodgkin lymphoma [NHL], n=14, and myeloma, n=6) were identified. All patients underwent computed tomography (CT). In five cases, magnetic resonance imaging (MRI) was additionally performed. Results: Clinically, 16 patients presented with local pain and soft-tissue swelling. In four patients, IMMID was found incidentally. The most common site was the erector spinae muscle, followed by the iliopsoas and pelvic muscles. In 13 cases of IMMID, diffuse mass-forming muscle infiltration was found. Focal intramuscular masses were identified in seven cases. Conclusion: NHL mostly manifests as diffuse muscle enlargement, whereas myelomas form focal intramuscular masses. Nevertheless, CT and MR appearances are nonspecific and can be misinterpreted as muscle sarcoma or inflammatory disease. Although rare, muscle involvement should be considered in the differential diagnosis of muscle disorders in patients with non-Hodgkin lymphoma and myeloma

  12. Neurological Manifestations, Diagnosis, and Treatment of Celiac Disease: A Comprehensive Review

    Directory of Open Access Journals (Sweden)

    Shahriar Nikpour

    2012-01-01

    Full Text Available Celiac disease or gluten sensitivity may initially present asone or more neurological signs and/or symptoms. On the other hand, it may be associated with or complicated by neurological manifestations. Neurological presentations are rare in children but as many as 36% of adult patients present with neurological changes. With severe malnutrition after progression of celiac disease, different vitamin deficiencies may develop. Such problems can in turn overlap with previous neurological abnormalities including ataxia,epilepsy, neuropathy, dementia, and cognitive disorders. Inthis study, we aimed to review the neurological aspects of celiac disease. Early diagnosis and treatment could prevent related disability in patients with celiac disease.

  13. Clinical and Para clinical Manifestations of Tuberous Sclerosis: A Cross Sectional Study on 81 Pediatric Patients

    Directory of Open Access Journals (Sweden)

    Seyyed Hassan TONEKABONI

    2012-09-01

    -9.Lendvay TS, Marshall FF. The tuberous sclerosis complex and its highly variable manifestations. J Urol2003 May;169(5:1635-42.Curatolo P, Jóźwiak S, Nabbout R; on behalf of the participants of the TSC Consensus Meeting for SEGA and Epilepsy Management. Management of epilepsy associated with tuberous sclerosis complex (TSC:Clinical recommendations. Eur J Paediatr Neurol 2012Jun;16(1:83-5.Jansen FE, Van Huffelen AC, Van Rijen PC, LeijtenFS,Jennekens-Schinkel A, Gosselaar P et al. Epilepsy surgeryin tuberous sclerosis: the Dutch experience. Seizure 2007Jul;16(5:445-53.Turgut M, Akalan N, Ozgen T, Ruacan S, Erbengi A. Subepandymal giant cell astrocytoma associated with tuberous sclerosis: diagnostic and surgical characteristics of five cases with unusual features. Clin Neurol Neurosurg1996 Aug;98(3:217-21.Coppola G, Klepper J, Ammendola E, Fiorillo M, dellaCorte, Capano G. The effects of the ketogenic diet in refractory partial seizures with reference to tuberous sclerosis. Eur J Pediatr Neurol 2006 May;10(3:148-51.Jozwia S, Kotulska K, Domanska-Pakiela D, LojszczykB, Syczewska M et al. Antiepileptic treatment before the onset of seizure reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. Eur J Paediatr Neurol 2011 Sep;15(5:424-31.Konishi Y, Ito M, Okuno T, Hojo H, Okuda R, Nakano Yet al. Tuberous sclerosis: early neurologic manifestations and CT features in 18 patients. Brain Dev 1979;1(1:31-7.Gerard G, Weisberg L. Tuberous sclerosis: CT findings and differential diagnosis. Comput Radiol 1987 Jul-Aug;11(4:189-92.Pompili G, Zirpoli S, Sala C, Flor N, Alfano RM, Volpi A et al. Magnetic resonance imaging of renal involvementin genetically studied patients with tuberous sclerosis complex. Eur J Radiol 2009 Nov;72(2:335-41.Fleury P, de Groot Wp, Delleman JW, Verbeeten B Jr,Frankenmolen-Witkiezwicz IM. Tuberous sclerosis: theincidence of sporadic cases versus familial cases. BrainDev 1980;2(2:107-17.Saadat M, Ansari-Lari M, Farhud

  14. Clinical Manifestations, Diagnosis, and Treatment of Mycobacterium haemophilum Infections

    Science.gov (United States)

    Lindeboom, Jerome A.; Bruijnesteijn van Coppenraet, Lesla E. S.; van Soolingen, Dick; Prins, Jan M.; Kuijper, Eduard J.

    2011-01-01

    Summary: Mycobacterium haemophilum is a slowly growing acid-fast bacillus (AFB) belonging to the group of nontuberculous mycobacteria (NTM) frequently found in environmental habitats, which can colonize and occasionally infect humans and animals. Several findings suggest that water reservoirs are a likely source of M. haemophilum infections. M. haemophilum causes mainly ulcerating skin infections and arthritis in persons who are severely immunocompromised. Disseminated and pulmonary infections occasionally occur. The second at-risk group is otherwise healthy children, who typically develop cervical and perihilar lymphadenitis. A full diagnostic regimen for the optimal detection of M. haemophilum includes acid-fast staining, culturing at two temperatures with iron-supplemented media, and molecular detection. The most preferable molecular assay is a real-time PCR targeting an M. haemophilum-specific internal transcribed spacer (ITS), but another approach is the application of a generic PCR for a mycobacterium-specific fragment with subsequent sequencing to identify M. haemophilum. No standard treatment guidelines are available, but published literature agrees that immunocompromised patients should be treated with multiple antibiotics, tailored to the disease presentation and underlying degree of immune suppression. The outcome of M. haemophilum cervicofacial lymphadenitis in immunocompetent patients favors surgical intervention rather than antibiotic treatment. PMID:21976605

  15. THE CLINICAL MANIFESTATIONS OF CALCIUM PYROPHOSPHATE CRYSTAL DEPOSITION DISEASE

    Directory of Open Access Journals (Sweden)

    F. M. Kudaeva

    2014-01-01

    Full Text Available Objective: to provide the clinical characteristics of joint injury in patients with calcium pyrophosphate crystal (CPC deposition disease.Subjects and methods. The trial enrolled 68 patients (43 women, 25 men with a verified diagnosis of CPC deposition disease. Their mean age was 60.2±11.8 years and disease duration was 7.5±6.4 years. Examination revealed the presence of arthritis and arthralgias. Polarizing microscopy with an Olympus CX31-P compensator was used to detectcrystals in synovial fluid. X-ray study of the knee joints was performed in the anteroposterior and lateral projections and that of the hand joints was in the frontal projection, Ultrasonography (USG of the knee and wrist joints was done using a GE Voluson-I transducer.Results. A concurrence of arthritis and arthralgias was noted in 37 (54% patients; 24 (36% patients had arthralgias only; 7 (10% had arthritis only. Arthritis affecting the knee, wrist, ankle, and first metacarpophalangeal joints was observed in 53, 15, 12, and 6% of cases, respectively. There was acute arthritis in 18% of the patients and chronic arthritis in 39%; the rate of CPC osteoarthrosis was 43%. Joint USG diagnosed knee and wrist joint chondrocalcinosis in 94 and 56% of the patients, respectively. USG could reveal asymptomatic wrist joint chondrocalcinosis significantly more often (in 56 and 17% of the patients, respectively; p = 0.008. Besides, USG could visualize synovitis in the knee joints in 88% of the patients with isolated arthralgias in them and synovitis in the wrinkle joints in 52% of the patients without clinical signs of inflammation in them.Conclusion. Osteoarthrosis is the most common form of CPC deposition disease. Knee joints in this disease are most frequently involved. Joint USG is of more informative value in detecting chondrocalcinosis than X-ray study; USG can also identify synovitis in the intact joints.

  16. Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases.

    Science.gov (United States)

    Wilkens, Alisha; Liu, Hongbin; Park, Kristen; Campbell, Lindsey B; Jackson, Marie; Kostanecka, Anna; Pipan, Mary; Izumi, Kosuke; Pallister, Phillip; Krantz, Ian D

    2012-12-01

    Pallister-Killian syndrome is a rare, multi-system developmental diagnosis typically caused by tetrasomy of chromosome 12p that exhibits tissue-limited mosaicism. The spectrum of clinical manifestations in Pallister-Killian syndrome is wide and includes craniofacial anomalies, clefts, ophthalmologic, audiologic, cardiac, musculoskeletal, diaphragmatic, gastrointestinal, genitourinary, and cutaneous anomalies in association with intellectual disability and seizures. Growth parameters are often normal to elevated at birth with deceleration of growth postnatally. No formal estimate of the prevalence of Pallister-Killian syndrome has been made. Here, we report the clinical findings in 59 individuals with Pallister-Killian syndrome who were ascertained at Pallister-Killian syndrome Foundation family meetings held in the summers of 2006, 2008, 2009, and 2010. In addition, the clinical findings of 152 cases reported in the medical literature were reviewed and compared to the cohort examined here. Several novel clinical characteristics were identified through detailed dysmorphology examinations of this cohort and reassertion of a mild developmental variant is described. This report expands the clinical manifestations of Pallister-Killian syndrome and highlights the variable expressivity of this diagnosis with important implications for diagnosis and counseling.

  17. The prevalence of clinically diagnosed ankylosing spondylitis and its clinical manifestations

    DEFF Research Database (Denmark)

    Exarchou, Sofia; Lindström, Ulf; Askling, Johan;

    2015-01-01

    arthritis (21.7% versus 15.3%, P study demonstrated a prevalence of clinically diagnosed ankylosing spondylitis of 0.18%. It revealed......INTRODUCTION: Prevalence estimates of ankylosing spondylitis vary considerably, and there are few nationwide estimates. The present study aimed to describe the national prevalence of clinically diagnosed ankylosing spondylitis in Sweden, stratified according to age, sex, geographical, and socio......, were identified from the National Patient Register. Data regarding disease manifestations, patient demographics, level of education, pharmacological treatment, and geographical region were retrieved from the National Patient Register and other national registers. RESULTS: A total of 11,030 cases...

  18. Acute intermittent porphyria: psychosis as the only clinical manifestation.

    Science.gov (United States)

    Ellencweig, Natalie; Schoenfeld, Nili; Zemishlany, Zvi

    2006-01-01

    Acute intermittent porphyria (AIP) is the most common of the four forms of neuroporphyria. AIP mimics a variety of disorders and thus poses a diagnostic quagmire. Abdominal pain occurs in 90-95% of the attacks. Some patients develop psychiatric symptoms such as psychosis similar to schizophrenia. The diagnostic difficulty may lead to under-diagnosis of patients who present with strictly psychiatric symptoms. This assumption is supported by a high prevalence of AIP in psychiatric hospitals. Therefore, we encourage a high index of suspicion for AIP in psychiatric patients in order to prevent false psychiatric diagnosis. In addition we discuss psychotropic drugs that may exacerbate acute attacks in undiagnosed patients. We report a case in which the diagnosis of AIP was clouded by the presence of only psychiatric symptoms. The clue for diagnosis was an anamnestic detail of the use of a porphyrogenic drug prior to the admission. The diagnosis of AIP was supported by excess of alpha aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine concomitantly with a decrease in porphobilinogen deaminase (PBGD) activity in erythrocytes. The diagnosis was further strengthened by the fact that the patient's father was identified as an AIP carrier. However, in the absence of typical organic symptoms of porphyria, one cannot definitely rule out the presence of schizophrenia in this patient in addition to AIR

  19. Epidemiology and clinical manifestations of enteroaggregative Escherichia coli

    DEFF Research Database (Denmark)

    Hebbelstrup Jensen, Betina; Olsen, Katharina E P; Struve, Carsten

    2014-01-01

    Enteroaggregative Escherichia coli (EAEC) represents a heterogeneous group of E. coli strains. The pathogenicity and clinical relevance of these bacteria are still controversial. In this review, we describe the clinical significance of EAEC regarding patterns of infection in humans, transmission...

  20. [The clinical and serological manifestations of Lyme disease in Russia].

    Science.gov (United States)

    Anan'eva, L P; Skripnikova, I A; Barskova, V G; Steere, A C

    1995-01-01

    Out of 86 Lyme's disease patients with a history of migrating erythema nervous system, cardiovascular and articular involvement was observed in 27, 6 and 43% of cases. Acrodermatitis was diagnosed in 2% of patients. Affection of locomotor system manifested with acute arthritis episodes or pains in major joints. 11 patients of 12 examined at arthritis onset showed elevated titer of anti-Borrelia IgG antibodies. Serologically, of 80 patients with arthritis or arthralgia without prior migrating erythema 6 demonstrated antibodies to 5 and more Borrelia polypeptides.

  1. Recurrent pleural effusion as a clinical manifestation of multiple myeloma

    Directory of Open Access Journals (Sweden)

    Marcelo Torquato Toneline

    2013-12-01

    Multiple myeloma is a hematologic malignant tumor of plasma cells, sometimes associated with pleural effusion. This, in most cases, is associated to infectious complications. Pleural effusion as the onset or progression of the disease itself is rare. This case reports a young male, who presented recurrent pleural effusions, diagnosed with multiple myeloma at diagnosis.

  2. Clinical Manifestations Vary with Different Age Spectrums in Infants with Kawasaki Disease

    Directory of Open Access Journals (Sweden)

    Hao-Chuan Liu

    2012-01-01

    Full Text Available Background. Kawasaki disease (KD is an acute systemic vasculitis with unknown etiology. The diagnosis of KD depends on clinical manifestations. The prevalence of coronary artery abnormality (CAA is 11.0% and results in cardiac sequelae, such as myocardial infarction or coronary aneurysm, which are the most serious complications in KD. Methods. We divided KD's children into different age groups: ≤6 months old, 7 months to 1 year old, and >1 year old, respectively. Different parameters were compared in each group. Results. Infants ≤6 months old are less likely to fulfill KD's major diagnostic criteria within 10 days, are prone to develop incomplete KD with the lowest cholesterol level, and have the greatest chance to have CAA and the laboratory features associated with CAA, such as the longest time needed to confirm CA diagnosis, lower hemoglobin level, lower albumin level, and higher platelet count. Infants <1 year old develop higher percentage of leukocytosis and sterile pyuria. But this group has fewer patients with neck lymphadenopathy.

  3. Hyaline fibromatosis syndrome: cutaneous manifestations*

    Science.gov (United States)

    Marques, Silvio Alencar; Stolf, Hamilton Ometto; Polizel, Juliana Ocanha; Munhoz, Tânia; Brandão, Marcela Calixto; Marques, Mariangela Esther Alencar

    2016-01-01

    Hyaline fibromatosis syndrome is the current name for clinical manifestations of diseases previously known as “infantile systemic hyalinosis” and “juvenile hyaline fibromatosis”. The authors report representative clinical cases of each one of the above subtypes with emphasis on cutaneous manifestations and difficulties for early diagnosis in this syndrome, essentially of multidisciplinary approach. PMID:27192526

  4. Clinical manifestations of atopy in children up to two years of age

    Directory of Open Access Journals (Sweden)

    Ilić Nevenka

    2011-01-01

    Full Text Available Background/Aim. Atopic diseases such as atopic dermatitis, allergic rhinitis and asthma have had increased prevalence during the past decade and nowadays occur in every third child in developed countries. The aim of the study was to determine frequency and type of atopic diseases at the age of two, as well as the importance the total IgE antibodies concentrations have in diagnosis and prognosis of the disease. Methods. The study involved 175 children up to two years of age. Allergy-like symptoms were found after surveying their parents and pediatric medical records. Using the fluorescence immunossay (FIA method, total IgE antibodies concentrations and specific IgE antibodies (Phadiatop infant were determined on an Immunocap 100 Dyagnostic System. Results. One or more allergy-like symptoms accounted for 57.7% of findings in children under the age of two, whilst in 19.4% the existence of IgE-related allergic diseases was found. Atopic diseases usually have clinical manifestations of atopic dermatitis (11.4%, IgE-bound wheezing/asthma (10.8% and food allergies (7.4%, and to much lesser extent those of allergic rhinitis (3.4% and urticaria (1.7%. The significantly higher total IgE antibodies concentrations were found in children with allergy-like symptoms (p < 0.0005 (cut-off 15.15 kU/L, sensitivity 76.5% specificity 71.6%. Conclusion. Almost 20% of two-year-old children have any of clinically manifested allergic diseases, with atopic dermatitis and IgE wheeze/asthma being predominant. The higher total IgE antibodies concentration is a good marker for sensitization in children with allergy-like symptoms.

  5. The role of human leukocyte antigen in susceptibility and clinical manifestations of sarcoidosis.

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    To investigate the association of human leukocyte antigen (HLA) with susceptibility and clinical manifestations of sarcoidosis, fifty-five patients with sarcoidosis were studied by using allele group specific polymerase chain reaction technique (PCR). Our data

  6. ENTEROVIRUS INFECTION: VARIETY OF ETIOLOGICAL FACTORS AND CLINICAL MANIFESTATIONS

    Directory of Open Access Journals (Sweden)

    O. I. Kanaeva

    2014-01-01

    Full Text Available Abstract. Enteroviruses are widely distributed human infectious pathogens. In spite of infection a disease does not manifest in majority number of cases. However, in some infected persons the different kind of symptoms can be observed; from common cold signs up to  aseptic (serous meningitis and myocarditis. Severe enteroviral cases with lethal outcomes are rarely reported. Ability of enteroviruses to cause large outbreaks and even epidemic distribution is very significant for health care systems. Taking in account a high genetic diversity of enteroviruses it is possible appearance of new highly pathogenic strains in the future. In some countries including the Russian Federation the permanent surveillance for enteroviral infections is provided besides of WHO polio elimination program. The laboratory diagnostics of enterovirus infections is complicated by numerous of pathogen serotypes. Thus, classical virological methods should be supported by molecular-biological tools to sequence pathogen genome and to define phylogenetic relations between different enterovirus strains.

  7. Pulmonary embolism in intensive care unit: Predictive factors, clinical manifestations and outcome

    Directory of Open Access Journals (Sweden)

    Bahloul Mabrouk

    2010-01-01

    Full Text Available Objective : To determine predictive factors, clinical and demographics characteristics of patients with pulmonary embolism (PE in ICU, and to identify factors associated with poor outcome in the hospital and in the ICU. Methods : During a four-year prospective study, a medical committee of six ICU physicians prospectively examined all available data for each patient in order to classify patients according to the level of clinical suspicion of pulmonary thromboembolism. During the study periods, all patients admitted to our ICU were classified into four groups. The first group includes all patients with confirmed PE; the second group includes some patients without clinical manifestations of PE; the third group includes patients with suspected and not confirmed PE and the fourth group includes all patients with only deep vein thromboses (DVTs without suspicion of PE. The diagnosis of PE was confirmed either by a high-probability ventilation/perfusion (V/Q scan or by a spiral computed tomography (CT scan showing one or more filling defects in the pulmonary artery or in its branches. The diagnosis was also confirmed by echocardiography when a thrombus in the pulmonary artery was observed. Results : During the study periods, 4408 patients were admitted in our ICU. The diagnosis of PE was confirmed in 87 patients (1.9%. The mean delay of development of PE was 7.8 ± 9.5 days. On the day of PE diagnosis, clinical examination showed that 50 patients (57.5% were hypotensive, 63 (72.4% have SIRS, 15 (17.2% have clinical manifestations of DVT and 71 (81.6% have respiratory distress requiring mechanical ventilation. In our study, intravenous unfractionated heparin was used in 81 cases (93.1% and low molecular weight heparins were used in 4 cases (4.6%. The mean ICU stay was 20.2 ± 25.3 days and the mean hospital stay was 25.5 ± 25 days. The mortality rate in ICU was 47.1% and the in-hospital mortality rate was 52.9%. Multivariate analysis showed that

  8. Diagnosis and Intralesional Corticotherapy in Oral Ulcers Occurring as the Sole Manifestation of Langerhans Cell Histiocytosis. A Case Report

    Science.gov (United States)

    Gambirazi, Liane; Libório, Tatiana; Nunes, Fábio; Sugaya, Norberto; Migliari, Dante

    2016-01-01

    This article reports a case of oral mucosa lesions as the sole manifestation in Langerhans cell histiocytosis (LCH). This is a very uncommon manifestation of LCH since this disease preferably affects the bones with frequent involvement of the jaws. LCH may also involve other organs, particularly the lungs, liver, lymph nodes, and skin. The highlights of this report are the differential diagnosis, immunohistochemical analysis and, mostly, the therapeutic approach. PMID:27398106

  9. KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis

    DEFF Research Database (Denmark)

    Broesby-Olsen, Sigurd; Kielsgaard Kristensen, Thomas; Vestergaard, Hanne

    2013-01-01

    Clinical manifestations of indolent systemic mastocytosis (ISM) comprise mediator-related symptoms, anaphylaxis, and osteoporosis. A new sensitive method for KIT D816V mutation detection allows quantification of the level of mutation-positive cells.......Clinical manifestations of indolent systemic mastocytosis (ISM) comprise mediator-related symptoms, anaphylaxis, and osteoporosis. A new sensitive method for KIT D816V mutation detection allows quantification of the level of mutation-positive cells....

  10. The benefit of combining clinical and radiological assessments in diagnosis of inherited muscle diseases

    OpenAIRE

    Ahmed Wafaie; Ahmed Aboumousa

    2014-01-01

    Purpose: To study the benefit of combining clinical and radiological assessments in the diagnosis of inherited muscle diseases. Subjects and methods: This cross sectional study included 45 patients presenting with manifestations of muscle disease. They were subjected to thorough clinical assessment and MRI examination of thigh and leg muscles. Independent clinical and radiological assessments were performed followed by combining the clinical categorization and radiological signs together t...

  11. Patterns of clinical mastitis manifestations in Danish organic dairy herds

    DEFF Research Database (Denmark)

    Vaarst, Mette; Enevoldsen, Carsten

    1997-01-01

    Danish organic dairy production is characterized by a low input of antibiotics for udder treatment and a high input of other mastitis control procedures. A study was conducted in 14 organic dairy herds with the objectives of obtaining a comprehensive description of clinical mastitis cases...... and identifying characteristic patterns in these results. Clinical signs, inflammatory reactions and microbiological identifications were obtained from 367 cases of clinical mastitis occurring over 18 months. Cow characteristics and preincident values such as milk yield and somatic cell count were obtained...... for each cow. Signs of previous udder inflammation were present in two-thirds of the clinical mastitis cases. Severe local inflammatory reactions were found in 21% of the cases and some indication of generalized signs such as fever and reduced appetite were found in 35% of the cases. Logistic regression...

  12. Acute Recurrent Pancreatitis: A Possible Clinical Manifestation of Ampullary Cancer

    Directory of Open Access Journals (Sweden)

    Athanasios Petrou

    2011-11-01

    Full Text Available Context Acute recurrent pancreatitis still poses diagnostic difficulties. The coexistence or moreover the causative relationship of carcinoma of the ampulla of Vater and acute recurrent pancreatitis is fairly rare. Case report We present a case of carcinoma of the ampulla of Vater that presented with acute recurrent necrotizing pancreatitis complicated with pseudocysts. A diagnosis of malignancy in the ampulla was only made after several ERCP attempts due to residual inflammation at the periampullary area. Conclusion Malignancy at the ampulla of Vater causing recurrent episodes of pancreatitis represents a realistic risk and attempts to diagnose the underlying cause should always take into account the possibility of cancer.

  13. Clinical manifestations and prognostic factors in patients with gastrointestinal stromal tumors

    Institute of Scientific and Technical Information of China (English)

    Shee-Chan Lin; Ming-Jer Huang; Chen-Yuan Zeng; Tzang-In Wang; Zen-Liang Liu; Ray-Kuan Shiay

    2003-01-01

    AIM: To investigate the incidence of CD117-positive immunohistochemical staining in previously diagnosed gastrointestinal (GI) tract stromal tumors (GTST) and to analyze the tumors' clinical manifestations and prognostic factors.METHODS: We retrospectively reviewed 91 cases with a previous diagnosis of GI stromal tumor, leiomyoma, or leiomyosarcoma. Tissue samples were assessed with CD117, CD34, SMA and S100 immunohistochemical staining. Clinical and pathological characteristics were analyzed for prognostic factors.RESULTS: CD117 was positive in 81 (89 %) of 91 tissue samples. There were 59 cases (72.8 %) positive for CD34,13 (16 %) positive for SMA, and 12 (14.8 %) positive for S100. There was no gender difference in patients with CD117-positive GIST. Their mean age was 65 years. There were 44 (54 %) tumors located in the stomach and 29 (36 %)in the small intestine. The most frequent presenting symptoms were abdominal pain and GI bleeding. The mean tumor size was 7.5±5.7 cm. There were 35 cases (43.2 %)with tumors >5 cm. The tumor size correlated significantly with tumor mitotic count and resectability. Tumor size, mitotic count, and resectability correlated significantly with tumor recurrence and survival. There was recurrent disease in 39 % of our patients, and their mean survival after recurrence was 16.6 months. Most recurrences were at the primary site or metastatic to the liver. Twenty-six percent of our patients died of their disease.CONCLUSION: Traditional histologic criteria are not specific enough to diagnose GIST. This diagnosis must be confirmed with CD117 immunohistochemical staining. Prognosis is dependent on tumor size, mitotic count, and resectability.

  14. School Refusal: Clinical Features, Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    Kayhan Bahali

    2010-12-01

    Full Text Available Children regularly and voluntarily go to school in order to fulfill the expectations of society from them to continue their education or schooling. School continuation has been made compulsory by laws. Nonetheless, contrary to popular belief, for some children it is distressing to go to school. These children have difficulty continuing school and/or refuse to go to school. Today school refusal is defined as a child’s inability to continue school for reasons, such as anxiety and depression. The prevalence of school refusal has been reported to be approximately 1% in school-age children and 5% in child psychiatry samples. The prevalence of school refusal is similar among boys and girls. School refusal can occur at any time throughout the child’s academic life and at all socio-economic levels. School refusal is considered a symptom rather than a clinical diagnosis and can manifest itself as a sign of many psychiatric disorders, with anxiety disorders predominant. Separation anxiety disorder, generalized anxiety disorder, social phobia, specific phobia, and adjustment disorder with anxiety symptoms are the most common disorders co-occurring with school refusal. While separation anxiety disorder is associated with school refusal in younger children, other anxiety disorders, especially phobias, are associated with school refusal in adolescents. Children who have parents with psychiatric disorders have a higher incidence of school refusal, and psychiatric disorders are more frequently seen in adult relatives of children with school refusal, which supports a significant role of genetic and environmental factors in th etiology of school refusal. School refusal is a emergency state for child mental health. As it leads to detrimental effects in the short term and the long term, it should be regarded as a serious problem. The long-lasting follow-up studies of school refusing children have revealed that these children have a higher incidence of

  15. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

    Science.gov (United States)

    El-Hattab, Ayman W; Adesina, Adekunle M; Jones, Jeremy; Scaglia, Fernando

    2015-01-01

    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNA(Leu(UUR)). The m.3243A>G mutation results in impaired mitochondrial translation and protein synthesis including the mitochondrial electron transport chain complex subunits leading to impaired mitochondrial energy production. The inability of dysfunctional mitochondria to generate sufficient energy to meet the needs of various organs results in the multi-organ dysfunction observed in MELAS syndrome. Energy deficiency can also stimulate mitochondrial proliferation in the smooth muscle and endothelial cells of small blood vessels leading to angiopathy and impaired blood perfusion in the microvasculature of several organs. These events will contribute to the complications observed in MELAS syndrome particularly the stroke-like episodes. In addition, nitric oxide deficiency occurs in MELAS syndrome and can contribute to its complications. There is no specific consensus approach for treating MELAS syndrome. Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes. Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy.

  16. Manifestations and clinical impact of pediatric inherited thrombophilia.

    Science.gov (United States)

    Klaassen, Irene L M; van Ommen, C Heleen; Middeldorp, Saskia

    2015-02-12

    The etiology of pediatric venous thromboembolic disease (VTE) is multifactorial, and in most children, 1 or more clinical risk factors are present. In addition, inherited thrombophilic disorders contribute to the development of pediatric VTE. In this review, the role of inherited thrombophilic disorders in the development of pediatric VTE, as well as the benefits and limitations of thrombophilia testing, will be discussed.

  17. Clinical manifest x-linked recessive adrenoleukodystrophy in a female

    DEFF Research Database (Denmark)

    Jack, Gyda Hlin Skuladottir; Malm-Willadsen, Karolina; Frederiksen, Anja;

    2013-01-01

    examination revealed decreased sensitivity in the feet, particularly to touch. Deep tendon reflexes in the lower limbs were brisk, and Babinski's sign was present bilaterally. Multiple sclerosis (MS) was excluded, and all clinical and biochemical tests were normal. After two years of progressing symptoms...

  18. Detection and clinical manifestation of placental malaria in southern Ghana

    NARCIS (Netherlands)

    F.P. Mockenhaupt; G. Bedu-Addo; C. von Gaertner; R. Boye; K. Fricke; I. Hannibal; F. Karakaya; M. Schaller; U. Ulmen; P.A. Acquah; E. Dietz; T.A. Eggelte; U. Bienzle

    2006-01-01

    Background: Plasmodium falciparum can be detected by microscopy, histidine-rich-protein-2 (HRP2) capture test or PCR but the respective clinical relevance of the thereby diagnosed infections in pregnant women is not well established. Methods: In a cross-sectional, year-round study among 839 deliveri

  19. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

    Science.gov (United States)

    Hendriksz, C J; Harmatz, P; Beck, M; Jones, S; Wood, T; Lachman, R; Gravance, C G; Orii, T; Tomatsu, S

    2013-01-01

    Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease. MPS IVA is caused by mutations in the gene encoding the enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Reduced GALNS activity results in impaired catabolism of two glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS). Clinical presentations of MPS IVA reflect a spectrum of progression from a severe "classical" phenotype to a mild "attenuated" phenotype. More than 180 different mutations have been identified in the GALNS gene, which likely explains the phenotypic heterogeneity of the disorder. Accumulation of C6S and KS manifests predominantly as short stature and skeletal dysplasia (dysostosis multiplex), including atlantoaxial instability and cervical cord compression. However, abnormalities in the visual, auditory, cardiovascular, and respiratory systems can also affect individuals with MPS IVA. Diagnosis is typically based on clinical examination, skeletal radiographs, urinary GAG, and enzymatic activity of GALNS in blood cells or fibroblasts. Deficiency of GALNS activity is a common assessment for the laboratory diagnosis of MPS IVA; however, with recently increased availability, gene sequencing for MPS IVA is often used to confirm enzyme results. As multiple clinical presentations are observed, diagnosis of MPS IVA may require multi-system considerations. This review provides a history of defining MPS IVA and how the understanding of the disease manifestations has changed over time. A summary of the accumulated knowledge is presented, including information from the International Morquio Registry. The classical phenotype is contrasted with attenuated cases, which are now being recognized and diagnosed more frequently. Laboratory based diagnoses of MPS IVA are also discussed.

  20. Clinical Assessment And Diagnosis Of Dementia

    Directory of Open Access Journals (Sweden)

    Srikanth S

    2005-01-01

    Full Text Available Dementia is characterized by progressive decline in an alert individual, leading to loss of independence in day-to-day functioning. It is a generic term for a condition that has various causes and hence myriad clinical presentations. It has to be distinguished from age-related cognitive decline, depression and delirium all of which are common in the elderly population. Detailed history and mental status examination are necessary to identify dementia, fit it into one of the various bedside classifications and pursue the differential diagnosis. This teaching review summarizes current information on definition, differential diagnosis and classification of dementia and presents a brief elaboration of bedside cognitive testing pertaining to dementia. A bird′s eye view of the profiles of various dementia subtypes is also provided so that after reading this article the reader will able to recognize dementia, conduct clinical examination to identify the characteristic cognitive profile and formulate the differential diagnosis with confidence.

  1. Rapid clinical progression to diagnosis among African-American men with systemic lupus erythematosus.

    Science.gov (United States)

    Arbuckle, M R; James, J A; Dennis, G J; Rubertone, M V; McClain, M T; Kim, X R; Harley, J B

    2003-01-01

    The initial clinical course of systemic lupus erythematosus (SLE) is variable, ranging from relatively minor manifestations progressing over years to rapid onset of fulminate disease. We sought to identify factors associated with the rapid manifestation of SLE. Chart review of military medical records was used to identify 130 patients who met the American College of Rheumatology classification criteria for SLE. Demographics, clinical criteria date of occurrence, and the date of SLE classification (at least four clinical criteria) met were documented. Prospectively stored serum samples prior to the diagnosis were evaluated for SLE autoantibodies. Median time from the first recorded criteria to diagnosis was significantly shorter in African-American (AA) males compared with AA females and European American (EA) females and males combined. AA males were more likely to have nephritis as their first clinical symptom. Also, less time transpired between the first clinical criterion and SLE diagnosis in AA males with nephritis than in other groups presenting with nephritis. Even when cases presenting with nephritis were excluded, a diagnosis of SLE was made more rapidly in AA males. African-American men progress from initial clinical manifestations to SLE diagnosis more rapidly than other ethnic or gender groups.

  2. Clinical manifestations of hysteria: an epistemological perspective or how historical dynamics illuminate current practice.

    Science.gov (United States)

    Medeiros De Bustos, Elisabeth; Galli, Sylvio; Haffen, Emmanuel; Moulin, Thierry

    2014-01-01

    Hysteria has generated the most heated debates among physicians, from antiquity to the present day. It has been long confused with neuroses and neurological pathologies such as Parkinson's disease and epilepsy, principally associated with women and sexual disorders. The clinical manifestations must first be seen in their historical context, as interpretation varies according to the time period. Recently, the Diagnostic and Statistical Manual of Mental Disorders by the American Psychiatric Association marked a break in the consensus that previously seemed to apply to the concept of hysteria and approach to the clinical manifestations. The clinical manifestations of hysteria are numerous and multifaceted, comprising 3 main classifications: paroxysms, attacks, and acute manifestations; long-lasting functional syndromes, and visceral events. Each main classification can be subdivided into several subgroups. The first main group of paroxysms, attacks, and acute manifestations includes major hysterical attacks, such as prodrome, trance and epileptic states, minor hysterical attacks such as syncope and tetany, twilight states, paroxysmal amnesia, and cataleptic attacks. The second group includes focal hysterical symptoms, paralyses, contractures and spasms, anesthesia, and sensory disorders. Visceral manifestations can be subdivided into spasms, pain, and general and trophic disorders. The diversity of the symptoms of hysteria and its changing clinical presentation calls into question the same hysterical attacks and the same symptoms, which have had only a few differences for over 2,000 years. A new definition of hysteria should be proposed, in that it is a phenomenon that is not pathological, but physiological and expressional.

  3. Catamenial migraine: epidemiology, pathogenesis, diagnosis, clinical features

    Directory of Open Access Journals (Sweden)

    S A Gromova

    2010-01-01

    Full Text Available Based on a review of the literature, the authors consider the pathogenesis, diagnosis, epidemiology, and clinical features of catamenial migraine. The view that catamenial migraine attacks are severest receives more and more support. The criteria that may be used to predict a severer course of catamenial migraine attacks in a specific patient are to be further defined.

  4. Clinical manifestations of Kingella kingae infections: case report and review.

    Science.gov (United States)

    Morrison, V A; Wagner, K F

    1989-01-01

    A patient with antecedent coccidioidal pulmonary cavitary disease who developed an empyema due to Kingella kingae prompted our analysis of the literature regarding this unusual bacterial pathogen. Formerly classified among other genera and considered a nonpathogen, K. kingae has been increasingly recognized as a cause of human infection. While the most commonly diagnosed infections due to this organism are endocarditis and septic arthritis, there have also been isolated reports of bacteremia, diskitis, abscesses, meningitis, and oropharyngeal infections. The treatment of choice is penicillin, to which K. kingae strains are uniformly susceptible. Recognition of the potential pathogenicity of this microorganism in appropriate clinical settings will probably result in more prompt and specific therapy.

  5. [Clinical manifestation and surgical treatment of superior lumbar disc herniation].

    Science.gov (United States)

    Klishin, D N; Dreval', O N; Gorozhanin, A V

    2011-01-01

    On the basis of analysis of presentation and surgical treatment of 103 patients with lumbar disc herniation the authors performed comparative assessment of symptoms and therapeutic techniques in patients with higher and lower lumbar disc disease. Short-term and long-term results were evaluated using visual analogue scale and Oswestry disability index (ODI). Statistically significant differences in dynamics of pain and ODI were not present. In spite of differences in clinical presentation, the results of surgical treatment in both groups were similar. They depended on severity of preoperative neurological deficit regardless of level of lesion. Specific features of surgical procedure in superior lumbar disk herniation are described.

  6. Many faces of angioedema: focus on the diagnosis and management of abdominal manifestations of hereditary angioedema.

    Science.gov (United States)

    Nzeako, Ugochukwu C; Longhurst, Hilary J

    2012-04-01

    Angioedema of the intestinal tract is an infrequent but well-described cause of abdominal pain that can occur because of inherited, acquired, allergic, or drug-induced causes. Hereditary angioedema (HAE) is a genetic disorder that causes recurrent attacks of severe edema of various body parts, including the intestinal tract. Moderate to severe abdominal pain occurs in 43-93% of such attacks due to intestinal edema. Laryngeal edema is a potentially life-threatening manifestation. Failure to recognize and diagnose HAE or other causes of intestinal angioedema can lead to years of delay in diagnosis, and in the case of HAE, often to unnecessary abdominal surgeries. Recognizing the typical history of recurrent attacks of abdominal pain, oropharyngeal/laryngeal angioedema or cutaneous angioedema, family history of similar symptoms, association of attacks with stress or menses, and exacerbation of attacks after administration of estrogens or angiotensin-converting enzyme inhibitors will increase diagnostic accuracy. Interdisciplinary treatment is often necessary after the diagnosis of HAE, first with acute management in the emergency room or the intensive care unit, followed by either drug prophylaxis against future attacks using a C1-esterase inhibitor concentrate or attenuated androgens and discontinuation of medications known to trigger attacks. Newer drugs approved for treatment of acute attacks may have future roles in the prevention of attacks if further studies support their efficacy. Gastroenterologists in particular should maintain a high index of suspicion for the possibility of HAE or other causes of intestinal angioedema in patients with a history of recurrent abdominal pain.

  7. Clinical manifestations of human papillomavirus infection in nongenital sites.

    Science.gov (United States)

    Melton, J L; Rasmussen, J E

    1991-04-01

    Our knowledge of warts dates thousands of years. Most warts represent no more than a transient infection in the hands and feet of children and adults. With the relatively recent medical advances permitting the prolonged survival of immunocompromised hosts, however, HPV-induced lesions have become an important problem. In these patients, lesions represent a recurring, intractable infection that predisposes the patient to the development of skin cancer. Such problems have been appreciated for some time in patients with EV. Newer laboratory techniques have led to an increasing number of clinical entities linked with an HPV cause in the nonimmunosuppressed host. Although evidence incriminating HPV as a causative factor for genital cancers of the cervix and the skin continues to mount, such evidence for nongenital Bowen's disease, certain squamous cell carcinomas of the skin, keratoacanthomas, and other tumors of the skin also has begun to grow. It is to be hoped that continued advances in molecular biologic techniques will further delineate the relationship between HPV and these conditions, lead to an HPV classification scheme that is more utilitarian from a clinical point of view, and ultimately lead to improved treatment.

  8. Non-stiff anti-amphiphysin syndrome: clinical manifestations and outcome after immunotherapy.

    Science.gov (United States)

    Moon, Jangsup; Lee, Soon-Tae; Shin, Jung-Won; Byun, Jung-Ick; Lim, Jung-Ah; Shin, Yong-Won; Kim, Tae-Joon; Lee, Keon-Joo; Park, Kyung-Il; Jung, Keun-Hwa; Jung, Ki-Young; Lee, Sang Kun; Chu, Kon

    2014-09-15

    Amphiphysin antibody causes paraneoplastic stiff-person syndrome and can also result in a variety of neurological manifestations. Here, we investigated the clinical spectrum of 20 patients with non-stiff anti-amphiphysin syndrome and their responses to immunotherapy. The most common neurological manifestation was limbic encephalitis (n=10), followed by dysautonomia (n=9), and cerebellar dysfunction (n=6). Cancer was detected in only seven patients. Intravenous immunoglobulin or steroid treatment was effective in most patients, but three improved only after rituximab treatment. Our study suggests that anti-amphiphysin syndrome can manifest as non-stiff encephalomyelitis and is only partially associated with cancer. Active immunotherapy, including rituximab, would be beneficial.

  9. The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency

    Science.gov (United States)

    Barış, Hatice Ezgi; Kıykım, Ayça; Nain, Ercan; Özen, Ahmet Oğuzhan; Karakoç-Aydıner, Elif; Barış, Safa

    2016-01-01

    Aim Although the association between primary immunodeficiency and autoimmunity is already well-known, it has once again become a topic of debate with the discovery of newly-defined immunodeficiencies. Thus, investigation of the mechanisms of development of autoimmunity in primary immunodefficiency and new target-specific therapeutic options has come to the fore. In this study, we aimed to examine the clinical findings of autoimmunity, autoimmunity varieties, and treatment responses in patients who were genetically diagnosed as having primary immunodeficiency. Material and Methods The files of patients with primary immunodeficiency who had clinical findings of autoimmunity, who were diagnosed genetically, and followed up in our clinic were investigated. The demographic and clinical features of the patients and their medical treatments were evaluated. Results Findings of autoimmunity were found in 30 patients whose genetic mutations were identified. The mean age at the time of the first symptoms was 8.96±14.64 months, and the mean age of receiving a genetic diagnosis was 82.55±84.71 months. The most common diseases showing findings of autoimmunity included immune dysregulation, polyendocrinopathy, enteropathy X-linked syndrome (16.7%); autoimmune lymphoproliferative syndrome (10%); lipopolysaccharide-responsive beige-like anchor protein deficiency (10%); and DiGeorge syndrome (10%). Twelve (40%) patients showed findings of autoimmunity at the time of first presentation. The most common findings of autoimmunity included inflammatory bowel disease, inflammatory bowel disease-like findings (n=14, 46.7%), immune thrombocytopenic purpura (n=11, 36.7%), and autoimmune hemolytic anemia (n=9, 30.0%). A response to immunosupressive agents was observed in 15 (50%) patients. Ten patients underwent hematopoietic stem cell transplantation. Six patients were lost to follow-up due to a variety of complications. Conclusion Autoimmunity is frequently observed in patients with

  10. Evaluation of clinical manifestations and laboratory findings of primary hyperparathyroidism in Imam Hospital (1988-1998

    Directory of Open Access Journals (Sweden)

    Alam Salimi M

    2002-11-01

    Full Text Available Introduction: Clinical manifestations of primary hyper-para-thyroidism (pHPT had been dramatically changed during last 25 years. Evaluation of changes in clinical findings was the aim of this study. Materials and methods: In a retrospective, descriptive case series, patients' records of all 47 pHPT (44 females, 3 males from 1988 till 1998 were studied. Patients’ clinical presentations, signs and symptoms, laboratory and radiologic findings were reviewed and the results were compared with 34 patients' studied during 1978-1987. Serum Ca>10.5 mg/dl with increased or high normal PTH were the diagnostic criteria of pHPT. Results: Patients’ age range was 11-70 and mean ±SD was 38±16 years, with a female to male ratio of 14:1. 57 percent of the patients had bone pain and muscle weakness, 12 percent were asymptomatic, 10 percent had pathologic fractures, 8 percent had renal stones, 8 percent had symptoms of hypercalcemia, and 2 percent had giant cell lesion. The mean±SD of serum calcium was 11.48±1.16 mg/dl, phosphorus was 2.4±0.6 mg/dl and 24-h urinary Ca was 294±197 mg. Serum PTH was increased from 1.5 to 500 folds. The frequency of single adenoma in right inferior, left inferior, and left superior gland were 43 percent, 30 percent, and 13 percent respectively. Conclusion: In the study 12 percent of patients were asymptomatic whereas there was no asymptomatic case in the previous study. Prevalence of severe bone disease and the interval between onset of symptoms and diagnosis was also reduced. According to this study detection of pHPT in asymptomatic phase remarkably increased.

  11. Clinical Manifestations of Fibrosing Mediastinitis in Chinese Patients

    Institute of Scientific and Technical Information of China (English)

    Yan Hu; Jian-Xing Qiu; Ji-Ping Liao; Hong Zhang; Zhe Jin; Guang-Fa Wang

    2016-01-01

    Background:Fibrosing mediastinitis (FM) is a rare disease.FM is thought to be related to prior granulomatous mediastinal infection,such as histoplasmosis or tuberculosis.The majority of cases have been reported in endemic regions for histoplasmosis.The characteristics of cases of FM in China,where the prevalence of tuberculosis is high,have not been reported.We analyzed the clinical,imaging,and bronchoscopic features of Chinese patients with FM to promote awareness of this disease.Methods:Between January 2005 and June 2015,twenty patients were diagnosed with FM in our hospital.Medical records and follow-up data were collected.Imaging and biopsy findings were reviewed by radiologists and pathologists.Results:A total of 20 patients were analyzed (8 males and 12 females).The age ranged from 43 to 88 years with a mean age of 69.5 years.Previous or latent tuberculosis was found in 12 cases.Clinical symptoms included dyspnea (18/20),cough (17/20),expectoration (7/20),and recurrent pneumonia (3/20).Chest computed tomography scans showed a diffuse,homogeneous,soft tissue process throughout the mediastinum and hila with compression of bronchial and pulmonary vessels.Calcification was common (15/20).Pulmonary hypertension was present in 9 of 20 cases.Diffuse black pigmentation in the bronchial mucosa was frequently seen on bronchoscopy (12/13).The patients' response to antituberculosis treatment was inconsistent.Conclusions:FM in Chinese patients is most likely associated with tuberculosis.Some characteristics of FM are different from cases caused by histoplasmosis.

  12. Food-borne trematodiases in Southeast Asia epidemiology, pathology, clinical manifestation and control.

    Science.gov (United States)

    Sripa, Banchob; Kaewkes, Sasithorn; Intapan, Pewpan M; Maleewong, Wanchai; Brindley, Paul J

    2010-01-01

    The food-borne trematodiases are an important group of neglected tropical diseases (NTDs). Over 40 million people are infected with food-borne trematodes and 750 million (>10% of the world's population) are at risk of these NTDs. Here, we review the life cycles, epidemiology, clinical manifestations, pathology and pathogenesis, diagnosis, treatment, and prevention and control of the major food-borne trematodiases in Southeast Asia. We focus particularly on opisthorchiasis caused by Opisthorchis viverrini and clonorchiasis caused by Clonorchis sinensis, which people contract by ingestion of metacercariae in flesh of raw or undercooked freshwater fishes, on fascioliasis caused by Fasciola species, where infection arises from ingestion of metacercariae on water plants such as watercress, and on Paragonimus species, the lung flukes, which use freshwater crabs and other crustaceans as intermediate hosts. We also include information on the intestinal flukes Fasciolopsis buski, the echinostomes and the so-called 'minute intestinal flukes' of the family Heterophyidae. Ecological information, placing emphasis on reservoir hosts, intermediate snail hosts and secondary hosts where applicable, is also reviewed and research needs are highlighted.

  13. Clinical manifestations of non-O1 Vibrio cholerae infections.

    Directory of Open Access Journals (Sweden)

    Yen-Ting Chen

    Full Text Available BACKGROUND: Infections caused by non-O1 Vibrio cholera are uncommon. The aim of our study was to investigate the clinical and microbiological characteristics of patients with non-O1 V. cholera infections. METHODS: The clinical charts of all patients with non-O1 V. cholera infections and who were treated in two hospitals in Taiwan were retrospectively reviewed. RESULTS: From July 2009 to June 2014, a total of 83 patients with non-O1 V. cholera infections were identified based on the databank of the bacteriology laboratories of two hospitals. The overall mean age was 53.3 years, and men comprised 53 (63.9% of the patients. Liver cirrhosis and diabetes mellitus were the two most common underlying diseases, followed by malignancy. The most common type of infection was acute gastroenteritis (n = 45, 54.2%, followed by biliary tract infection (n = 12, 14.5% and primary bacteremia (n = 11, 13.3%. Other types of infection, such as peritonitis (n = 5, 6.0%, skin and soft tissue infection (SSTI (n = 5, 6.0%, urinary tract infection (n = 3, 3.6% and pneumonia (2, 2.4%, were rare. July and June were the most common months of occurrence of V. cholera infections. The overall in-hospital mortality of 83 patients with V. cholera infections was 7.2%, but it was significantly higher for patients with primary bacteremia, hemorrhage bullae, acute kidney injury, acute respiratory failure, or admission to an ICU. Furthermore, multivariate analysis showed that in-hospital mortality was significantly associated with acute respiratory failure (odds ratio, 60.47; 95% CI, 4.79-763.90, P = 0.002. CONCLUSIONS: Non-O1 V. cholera infections can cause protean disease, especially in patients with risk factors and during warm-weather months. The overall mortality of 83 patients with non-O1 V. cholera infections was only 7.2%; however, this value varied among different types of infection.

  14. Red cell pyruvate kinase deficiency: from genetics to clinical manifestations.

    Science.gov (United States)

    Zanella, A; Bianchi, P

    2000-03-01

    Pyruvate kinase deficiency is the most frequent enzyme abnormality of the Embden-Meyerhof pathway causing hereditary non-spherocytic haemolytic anaemia. The degree of haemolysis varies widely, ranging from very mild or fully compensated forms, to life-threatening neonatal anaemia and jaundice necessitating exchange transfusions. Splenectomy should be reserved for young patients who require regular blood transfusions. The gene encoding for pyruvate kinase (PK-LR) has been localized to the long arm of chromosome I; the cDNA of R-type is 2060 bp long and codes for 574 amino acids. More than 130 different mutations, mostly missense, have so far been described in association with PK deficiency, 1529A and 1456T being considered to be the most common mutations in Caucasians. Analysis of the three-dimensional structure of the enzyme may help in predicting the severity of the molecular defect. Further data on clinical features of homozygous patients are needed, at least for some mutations, to allow a more precise genotype/phenotype correlation.

  15. Correlation of Serotype-Specific Dengue Virus Infection with Clinical Manifestations

    Science.gov (United States)

    Halsey, Eric S.; Marks, Morgan A.; Gotuzzo, Eduardo; Fiestas, Victor; Suarez, Luis; Vargas, Jorge; Aguayo, Nicolas; Madrid, Cesar; Vimos, Carlos; Kochel, Tadeusz J.; Laguna-Torres, V. Alberto

    2012-01-01

    Background Disease caused by the dengue virus (DENV) is a significant cause of morbidity throughout the world. Although prior research has focused on the association of specific DENV serotypes (DENV-1, DENV-2, DENV-3, and DENV-4) with the development of severe outcomes such as dengue hemorrhagic fever and dengue shock syndrome, relatively little work has correlated other clinical manifestations with a particular DENV serotype. The goal of this study was to estimate and compare the prevalence of non-hemorrhagic clinical manifestations of DENV infection by serotype. Methodology and Principal Findings Between the years 2005–2010, individuals with febrile disease from Peru, Bolivia, Ecuador, and Paraguay were enrolled in an outpatient passive surveillance study. Detailed information regarding clinical signs and symptoms, as well as demographic information, was collected. DENV infection was confirmed in patient sera with polyclonal antibodies in a culture-based immunofluorescence assay, and the infecting serotype was determined by serotype-specific monoclonal antibodies. Differences in the prevalence of individual and organ-system manifestations were compared across DENV serotypes. One thousand seven hundred and sixteen individuals were identified as being infected with DENV-1 (39.8%), DENV-2 (4.3%), DENV-3 (41.5%), or DENV-4 (14.4%). When all four DENV serotypes were compared with each other, individuals infected with DENV-3 had a higher prevalence of musculoskeletal and gastrointestinal manifestations, and individuals infected with DENV-4 had a higher prevalence of respiratory and cutaneous manifestations. Conclusions/Significance Specific clinical manifestations, as well as groups of clinical manifestations, are often overrepresented by an individual DENV serotype. PMID:22563516

  16. Atypical manifestations of leptospirosis.

    Science.gov (United States)

    Rajapakse, Senaka; Rodrigo, Chaturaka; Balaji, Krishan; Fernando, Sumadhya Deepika

    2015-05-01

    Leptospirosis is an illness with a wide spectrum of clinical manifestations and severe illness affects nearly all organ systems. Serious and potentially life-threatening clinical manifestations of acute leptospirosis are caused by both direct tissue invasion by spirochaetes and by the host immune responses. In its severe form, leptospirosis can cause multi-organ dysfunction and death in a matter of days. Therefore it is critical to suspect and recognize the disease early, in order to initiate timely treatment. While the classical presentation of the disease is easily recognized by experienced clinicians practising in endemic regions, rarer manifestations can be easily missed. In this systematic review, we summarize the atypical manifestations reported in literature in patients with confirmed leptospirosis. Awareness of these unusual manifestations would hopefully guide clinicians towards early diagnosis.

  17. STUDY OF CLINICAL MANIFESTATIONS AND COMPLICATIONS OF HAEMOTOXIC SNAKE ENVENOMATION

    Directory of Open Access Journals (Sweden)

    Narasimham

    2015-07-01

    Full Text Available BACKGROUND AND OBJECTIVES: Snake bites are of major public health importance in many communities as causes of haemorrhage, other morbidity and mortality. 1 Of the 3000 species of snakes, about 500 belong to the 3 families of venomous snakes, Atr actaspididae, Elapidae and Viperidae. Estimated 15000 – 20000 people die each year from snake bite in India. 2 In tropical countries snake bite is occupational disease of farmers, plantation workers and hunters. In India after snake bite clinical manifestati ons are pain, oedema, bleeding at bite site. 3 The inpatient complaints are hypovolemic shock, bleeding diathesis, renal failure, sepsis. 4,5 The only specific treatment is Anti Snake Venom (A. S. V. In India most cases of renal injuries are caused by Rus sell’s viper and Saw scaled viper. 6,7 METHODS: Patients with history of snake bite with or without bite marks, bleeding diathesis or with prolonged clotting time or both. And observed for oliguria and high coloured urine to see renal injury. Period to b rought to hospital ( B elow 4 hours is ideal time early or late, tourniquet application and level of consciousness, and did the simple bed side test is 20 minute blood clot test and prothrombin time, platelet count. RESULTS: Out of 50 cases 35 cases are males and 15 cases are females, so common in males. Common symptoms are nausea, vomits, pain, swelling and paresthesia. Common signs are bleeding from bleeding site, gum bleeding, epistaxis, haemetemesis, malena. CONCLUSION: It is found more common in males. Common symptoms nausea, vomit, pain, swelling. Common sign are bleeding at bite site, gum bleeding, epistax i s, haemetemesis, malena, decreased urine output, giddiness and vertigo.

  18. CLINICAL AND EPIDEMIOLOGICAL STUDY OF CUTANEOUS MANIFESTATIONS OF PREGNANCY

    Directory of Open Access Journals (Sweden)

    Sharath Kumar

    2013-10-01

    Full Text Available ABSTRACT: BACKGROUND: Pregnancy is a period of profound immunologic, endocr ine, metabolic and vascular changes which are tolerated by the body for a relatively short time. Almost all pregnant women (90% may develop both physiologic and pathologic changes in the skin, nails, and hair which should be recognized and appropriately m anaged 1 . Moreover, pregnancy modifies the course of a number of pre - existing dermatological conditions. AIMS: To find out the frequency and pattern of skin changes in pregnant women i.e. physiological skin changes, dermatoses modified by pregnancy and spec ific dermatoses of pregnancy . DESIGN: Prospective descriptive study . METHODS AND MATERIAL: A total of 300 pregnant women attending antenatal OPD and those admitted in wards having symptoms related to skin and mucosa, at tertiary care centre between June 20 11 and November 2012 were studied. Patients not willing to give informed consent were only excluded. . Detailed history, clinical examination and relevant investigations were done. RESULTS: In our study age distribution of pregnancy, was in range of 16 - 30 years. Most of the cases belonged to 2 nd and 3 rd trimester (93%. Pigmentary changes were the most common non specific pregnancy dermatosis, seen in almost all cases. Of these linea nigra (87% being the commonest. Overall 54 cases showed specific dermatos es of pregnancy. Of these the most common was prurigo of pregnancy (12% followed by pruritus of pregnancy (4%, PUPPP (2%. Among the other dermatological conditions, scabies (16% was the commonest. Fungal infections were seen in 14%, viral infections in 8% and bacterial infections in 5%. CONCLUSION: Majority of the dermatoses associated with pregnancy were observed in third trimester and among multigravidas. Pigmentary changes was the commonest physiological change observed. Prurigo of pregnancy was the commonest specific dermatosis of pregnancy. There were no cases of dermatoses modified during pregnancy

  19. Clinical manifestations and prognostic factors of Morganella morganii bacteremia.

    Science.gov (United States)

    Lin, T-Y; Chan, M-C; Yang, Y-S; Lee, Y; Yeh, K-M; Lin, J-C; Chang, F-Y

    2015-02-01

    Although Morganella morganii causes a variety of clinical infections, there are limited studies on M. morganii bacteremia after the year 2000. A total of 109 patients with M. morganii bacteremia at a medical center in Taiwan from 2003 to 2012 were studied. Among them, 30.3 % had polymicrobial bacteremia and 75.2 % had community-acquired infection. The most common underlying diseases were hypertension (62.4 %) and diabetes mellitus (38.5 %). The urinary tract (41.3 %) was the major portal of entry, followed by the hepatobiliary tract (27.5 %), skin and soft tissue (21.1 %), and primary bacteremia (10.1 %). Susceptibility testing of M. morganii isolates showed ubiquitous resistance to first-generation cephalosporins and ampicillin-clavulanate; resistance rates to gentamicin, piperacillin-tazobactam, and ciprofloxacin were 30.3 %, 1.8 %, and 10.1 %, respectively. Overall, the 14-day mortality was 14.7 %. Univariate analysis revealed that elevated blood urea nitrogen (BUN) values [p = 0.0137, odds ratio (OR) 5.26], intensive care unit (ICU) admission (p = 0.011, OR 4.4), and higher Acute Physiology and Chronic Health Evaluation II (APACHE II) scores (p < 0.001, OR 1.62) were significantly associated with mortality. The APACHE II score remained the only significant risk factor for mortality in multivariate analysis (p = 0.0012, OR 1.55). In conclusion, M. morganii bacteremia patients were mostly elderly, with one or more comorbidities. Most of the patients had community-acquired infection via the urinary and hepatobiliary tracts. Furthermore, prognosis can be predicted according to disease severity measured by the APACHE II score.

  20. Detection and clinical manifestation of placental malaria in southern Ghana

    Directory of Open Access Journals (Sweden)

    Acquah Patrick A

    2006-12-01

    Full Text Available Abstract Background Plasmodium falciparum can be detected by microscopy, histidine-rich-protein-2 (HRP2 capture test or PCR but the respective clinical relevance of the thereby diagnosed infections in pregnant women is not well established. Methods In a cross-sectional, year-round study among 839 delivering women in Agogo, Ghana, P. falciparum was screened for in both, peripheral and placental blood samples, and associations with maternal anaemia, low birth weight (LBW and preterm delivery (PD were analysed. Results In peripheral blood, P. falciparum was observed in 19%, 34%, and 53% by microscopy, HRP2 test, and PCR, respectively. For placental samples, these figures were 35%, 41%, and 59%. Irrespective of diagnostic tool, P. falciparum infection increased the risk of anaemia. Positive peripheral blood results of microscopy and PCR were not associated with LBW or PD. In contrast, the HRP2 test performed well in identifying women at increased risk of poor pregnancy outcome, particularly in case of a negative peripheral blood film. Adjusting for age, parity, and antenatal visits, placental HRP2 was the only marker of infection associated with LBW (adjusted odds ratio (aOR, 1.5 (95%CI, 1.0–2.2 and, at borderline statistical significance, PD (aOR, 1.4 (1.0–2.1 in addition to anaemia (aOR, 2.3 (1.7–3.2. Likewise, HRP2 in peripheral blood of seemingly aparasitaemic women was associated with PD (aOR, 1.7 (1.0–2.7 and anaemia (aOR, 2.1 (1.4–3.2. Conclusion Peripheral blood film microscopy not only underestimates placental malaria. In this highly endemic setting, it also fails to identify malaria as a cause of foetal impairment. Sub-microscopic infections detected by a HRP2 test in seemingly aparasitaemic women increase the risks of anaemia and PD. These findings indicate that the burden of malaria in pregnancy may be even larger than thought and accentuate the need for effective anti-malarial interventions in pregnancy.

  1. Hypertrophic pachymeningitis: Current criteria for diagnosis and differentiation (Clinical case and review of literature

    Directory of Open Access Journals (Sweden)

    E. G. Mendelevich

    2015-01-01

    Full Text Available The paper describes a 44-year-old male patient with an about 6-year history of hypertrophic pachymeningitis. The major clinical symptoms were characterized by headache, exophthalmos, and blindness in one eye. The data for differential diagnosis of the disease are given. The current literature on the clinical manifestations of hypertrophic pachymeningitis, its differential diagnosis, and the results of magnetic resonance imaging (MRI is reviewed. Diagnostic difficulties at the stage of a clinical observation are due to the nonspecificity of neurological manifestations and the need for a comprehensive examination to detect a somatic disease. MRI can diagnose the disease-specific phenomenon of damage to the meninges, which calls for further careful differentiation. Clinicians must be familiar with alternative differential diagnosis, as a rapid specific therapeutic approach will help avoid long-term or irreversible neurological complications.

  2. Clinical manifestations of Eosinophilic meningitis due to infection with Angiostrongylus cantonensis in children.

    Science.gov (United States)

    Sawanyawisuth, Kittisak; Chindaprasirt, Jarin; Senthong, Vichai; Limpawattana, Panita; Auvichayapat, Narong; Tassniyom, Sompon; Chotmongkol, Verajit; Maleewong, Wanchai; Intapan, Pewpan M

    2013-12-01

    Eosinophilic meningitis, caused by the nematode Angiostrongylus cantonensis, is prevalent in northeastern Thailand, most commonly in adults. Data regarding clinical manifestations of this condition in children is limited and may be different those in adults. A chart review was done on 19 eosinophilic meningitis patients aged less than 15 years in Srinagarind Hospital, Faculty of Medicine, Khon Kaen University, Thailand. Clinical manifestations and outcomes were reported using descriptive statistics. All patients had presented with severe headache. Most patients were males, had fever, nausea or vomiting, stiffness of the neck, and a history of snail ingestion. Six patients had papilledema or cranial nerve palsies. It was shown that the clinical manifestations of eosinophilic meningitis due to A. cantonensis in children are different from those in adult patients. Fever, nausea, vomiting, hepatomegaly, neck stiffness, and cranial nerve palsies were all more common in children than in adults.

  3. On information field of clinical diagnosis

    Institute of Scientific and Technical Information of China (English)

    曹茂开

    2003-01-01

    "Field" is a universal phenomenon existing in both nature and society,and determines the existence and significance of all materials or information.The man being has always been generating and carrying a large quantity of life information in his whole life.Each piece of life information has an independent information field.The life information field includes such three subfields as bioinformation field,psychoinformation field and psycho-bioinformation field.The clinical diagnosis information field which is a specific information field within the information field of human activities consists of all information concerning man's health.Only after we have cognized and ascertained the clinic diagnosis information field,can we accurately utilize its function to serve the human being.

  4. Difficulties in clinical diagnosis of peripartum cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Vijayalakshmi B. Channaiah

    2015-06-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a disorder which describes initial left ventricular dysfunction and symptoms of cardiac failure between the late stages of pregnancy and the first five months after delivery. PPCM is a difficult diagnosis to make because it resembles common cardiac issues that are normally experienced during pregnancy. Clinical presentation is representative of cardiac failure and is commonly misdiagnosed until further progression. This disorder is commonly seen in some regions of the world and rare in others. Proper evaluation and rapid treatment are crucial for an effective recovery. Subsequent pregnancies should be evaluated before pursuing. The purpose of this review article is to discuss the difficulties in clinical diagnosis and provide a concise and practical approach to treatment of suspected PPCM. [J Exp Integr Med 2015; 5(2.000: 69-74

  5. Clinical symptoms, diagnosis, and treatment of neurocysticercosis.

    Science.gov (United States)

    Garcia, Hector H; Nash, Theodore E; Del Brutto, Oscar H

    2014-12-01

    The infection of the nervous system by the cystic larvae of Taenia solium (neurocysticercosis) is a frequent cause of seizure disorders. Neurocysticercosis is endemic or presumed to be endemic in many low-income countries. The lifecycle of the worm and the clinical manifestations of neurocysticercosis are well established, and CT and MRI have substantially improved knowledge of the disease course. Improvements in immunodiagnosis have further advanced comprehension of the pathophysiology of this disease. This knowledge has led to individualised treatment approaches that account for the involvement of parenchymal or extraparenchymal spaces, the number and form of parasites, and the extent of degeneration and associated inflammation. Clinical investigations are focused on development of effective treatments and reduction of side-effects induced by treatment, such as seizures, hydrocephalus, infarcts, and neuroinjury.

  6. Pertussis: clinical and bacteriological diagnosis of six cases

    Directory of Open Access Journals (Sweden)

    Arellano Penagos Mario

    2014-07-01

    Full Text Available ertussis is an endemic disease in our population. Every 3 to 4 years, pertussis has an epidemic pattern even in countries with good health conditions. Antipertussis vaccine first dose is adminis- tered at the age of 2 months; a second and third dose are given at 4 and 6 months of age. This vaccine has an 8 to 10 year protective effect, for which reason it is suggested that pregnant women in the third trimester should be vaccinated in order to prevent pertussis in newborns. It should also be administered to older people to avoid turning them into asymptomatic carriers. Clinic manifestations are easily identifiable due to respiratory symptoms, especially to the particular characteristics of the cough. The diagnosis is supported by the presence of leukocytosis (predominantly lymphocytes and by certain thoracic radiologic findings. The diagnosis is confirmed with a positive culture for Bordetella pertussis or with a polymerase chain reaction (PCR. In a non complicated clinic course macrolides are still the best therapeutic choice. Nonetheless clinic observation is highly recom- mended in order to avoid complications. Redefinition of vaccine programs against Bordetella pertussis in Mexican population is recommended and also to notify the presence of the disease to the corresponding health authorities.

  7. Pediatric insomnia: clinical, diagnosis, and treatment.

    Science.gov (United States)

    Miano, Silvia; Peraita-Adrados, Rosa

    2014-01-01

    Pediatric insomnia is an extrinsic sleep disorder subdivided into two categories: behavioral insomnia and insomnia related to medical, neurological, and psychiatric diseases. This review will cover several types of insomnia, comorbidities and specific pediatric therapies according to clinical characteristics and age. Behavioral insomnia should be differentiated from pediatric insomnia due to medical conditions, mostly occurring during the first year of life. Multiple night awakenings and diurnal hypersomnolence are strong indicators of insomnia due to medical conditions. Insomnia during adolescence and pediatric insomnia associated with psychiatric comorbidity, cognitive disabilities and epilepsy, will be discussed in terms of diagnosis, clinical features and implications for treatment.

  8. Cutaneous Manifestations in Dermatomyositis: Key Clinical and Serological Features-a Comprehensive Review.

    Science.gov (United States)

    Muro, Yoshinao; Sugiura, Kazumitsu; Akiyama, Masashi

    2016-12-01

    Dermatomyositis (DM) is a common idiopathic inflammatory myopathy. The pathogenesis is considered to be microangiopathy affecting skin and muscle. The cutaneous manifestations of DM are the most important aspect of this disease, and their correct evaluation is important for early diagnosis. The skin signs are various: Some are pathognomonic or highly characteristic, and others are compatible with DM. Recently, DM has been categorized into several disease subsets based on the various autoantibodies present in patients. Sometimes, characteristic cutaneous manifestations are strongly associated with the presence of specific autoantibodies. For example, anti-Mi-2 antibody is associated with the classic features of DM, including heliotrope rash, Gottron's papules, the V-neck sign, the shawl sign, cuticular overgrowth, and photosensitivity. Frequent cutaneous features in anti-transcriptional intermediary factor 1 gamma (TIF1γ)-positive patients are diffuse photoerythema, including "dusky red face," while skin ulcerations, palmar papules (inverse Gottron), diffuse hair loss, panniculitis, and oral pain and/or ulcers are sometimes associated with anti-melanoma differentiation-associated gene 5 product (MDA5) antibody. Here, we review important cutaneous manifestations seen in patients with DM, and we examine the relationship between the skin changes and myositis-associated autoantibodies. Correct evaluation of cutaneous manifestations and myositis-associated autoantibodies should help the clinician in the early diagnosis of DM, for a quick recognition of cutaneous signs that may be the symptom of onset before muscle inflammation.

  9. Clinical and Neurologic Manifestation of Minimal Hepatic Encephalopathy and Overt Hepatic Encephalopathy.

    Science.gov (United States)

    Basu, P Patrick; Shah, Niraj James

    2015-08-01

    Hepatic encephalopathy (HE) shows a wide spectrum of neuropsychiatric manifestations. A combined effort with neuropsychological and psychometric evaluation has to be performed to recognize the syndrome, whereas minimal HE (MHE) is largely under-recognized. Subtle symptoms of MHE can only be diagnosed through specialized neuropsychiatric testing. Early diagnosis and treatment may drastically improve the quality of life for many cirrhotic patients. Further research to gain better insight into the pathophysiology and diagnostic accuracy of HE will help determine future management strategies.

  10. Dual diagnosis among physicians: a clinical perspective.

    Science.gov (United States)

    Braquehais, María Dolores; Lusilla, Pilar; Bel, Miquel Jordi; Navarro, María Cecilia; Nasillo, Viviana; Díaz, Albert; Valero, Sergi; Padrós, Jaume; Bruguera, Eugeni; Casas, Miquel

    2014-01-01

    Co-occurrence of mental disorders and substance use disorders (dual diagnosis) among doctors is a cause of serious concern due to its negative personal, professional, and social consequences. This work provides an overview of the prevalence of dual diagnosis among physicians, suggests a clinical etiological model to explain the development of dual diagnosis in doctors, and recommends some treatment strategies specifically for doctors. The most common presentation of dual diagnosis among doctors is the combination of alcohol use disorders and affective disorders. There are also high rates of self-medication with benzodiazepines, legal opiates, and amphetamines compared to the general population, and cannabis use disorders are increasing, mainly in young doctors. The prevalence of nicotine dependence varies from one country to another depending on the nature of public health policies. Emergency medicine physicians, psychiatrists, and anaesthesiologists are at higher risk for developing a substance use disorder compared with other doctors, perhaps because of their knowledge of and access to certain legal drugs. Two main pathways may lead doctors toward dual diagnosis: (a) the use of substances (often alcohol or self-prescribed drugs) as an unhealthy strategy to cope with their emotional or mental distress and (b) the use of substances for recreational or other purposes. In both cases, doctors tend to delay seeking help once a problem has been established, often for many years. Denial, minimization, and rationalization are common defense mechanisms, maybe because of the social stigma associated with mental or substance use disorders, the risk of losing employment/medical license, and a professional culture of perfectionism and denial of emotional needs or failures. Personal vulnerability interacts with these factors to increase the risk of a dual diagnosis developing in some individuals. When doctors with substance use disorders accept treatment in programs

  11. Challenge in Clinical Diagnosis and Treatment of Leptospirosis

    Directory of Open Access Journals (Sweden)

    Dora I. Ríos

    2015-01-01

    Full Text Available Abstract: Introduction: Leptospirosis is an acute febrile disease caused by the leptospira. It is considered a zoonosis that affects a variety of animals, both wild and domestic (mainly rodents. Humans become infected accidentally by contact with urine or tissues from infected animals. This pathology has variable clinical manifestations, ranging from inapparent infections and aseptic meningitis, to severe forms such as the Weil syndrome. Development: We present the case of a young patient of 22 years old with fever quantified peaks of 40° C, chills, profuse sweating, headache, muscle and joint pain in knees and malleoli, retroorbital and retrosternal pain; and appetite loss. The symptoms occurred after 20 days of having practiced extreme water sports. Conclusion: The late diagnosis of the patient and hospital readmission are the result of several factors; First, the homology with other infectious diseases that present acute febrile illness with similar symptoms as dengue , malaria, influenza , yellow fever , brucellosis; and secondly the lack of expertise and poor contact with patients who present this disease by the medical staff. Correct antibiotic treatment and proper support reduce morbidity and mortality. The objective of this article is to describe a case of human leptospirosis and make a review of the literature in order to analyze the epidemiological characteristics and relevant clinical manifestations.

  12. Clinical diagnosis of hyposalivation in hospitalized patients

    Directory of Open Access Journals (Sweden)

    Soraya de Azambuja Berti-Couto

    2012-04-01

    Full Text Available OBJECTIVE: The aim of this study was to evaluate the effectiveness of clinical criteria for the diagnosis of hyposalivation in hospitalized patients. MATERIAL AND METHODS: A clinical study was carried out on 145 subjects (48 males; 97 females; aged 20 to 90 years. Each subject was clinically examined, in the morning and in the afternoon, along 1 day. A focused anamnesis allowed identifying symptoms of hyposalivation, like xerostomia complaints (considered as a reference symptom, chewing difficulty, dysphagia and increased frequency of liquid intake. Afterwards, dryness of the mucosa of the cheecks and floor of the mouth, as well as salivary secretion during parotid gland stimulation were assessed during oral examination. RESULTS: Results obtained with Chi-square tests showed that 71 patients (48.9% presented xerostomia complaints, with a significant correlation with all hyposalivation symptoms (p <0.05. Furthermore, xerostomia was also significantly correlated with all data obtained during oral examination in both periods of evaluation (p<0.05. CONCLUSION: Clinical diagnosis of hyposalivation in hospitalized patients is feasible and can provide an immediate and appropriate therapy avoiding further problems and improving their quality of life.

  13. Vertebral osteomyelitis: clinical features and diagnosis.

    Science.gov (United States)

    Eren Gök, S; Kaptanoğlu, E; Celikbaş, A; Ergönül, O; Baykam, N; Eroğlu, M; Dokuzoğuz, B

    2014-10-01

    We aimed to describe clinical and diagnostic features of vertebral osteomyelitis for differential diagnosis and treatment. This is a prospective observational study performed between 2002 and 2012 in Ankara Numune Education and Research Hospital in Ankara, Turkey. All the patients with vertebral osteomyelitis were followed for from 6 months to 3 years. In total, 214 patients were included in the study, 113 out of 214 (53%) were female. Out of 214 patients, 96 (45%) had brucellar vertebral osteomyelitis (BVO), 63 (29%) had tuberculous vertebral osteomyelitis (TVO), and 55 (26%) had pyogenic vertebral osteomyelitis (PVO). Mean number of days between onset of symptoms and establishment of diagnosis was greater with the patients with TVO (266 days) than BVO (115 days) or PVO (151 days, p 15 mm, sensitivity was 0.66, specificity was 0.97, positive predictive value was 0.89, negative predictive value was 0.88, and receiver operating characteristics area was 0.8. Tuberculous and brucellar vertebral osteomyelitis remained the leading causes of vertebral osteomyelitis with delayed diagnosis. In differential diagnosis of vertebral osteomyelitis, consumption of unpasteurized cheese, dealing with husbandry, sweating, arthralgia, hepatomegaly, elevated alanine transaminase, and lumbar involvement in magnetic resonance imaging were found to be predictors of BVO, thoracic involvement in magnetic resonance imaging and tuberculin skin test > 15 mm were found to be predictors of TVO, and history of spinal surgery and leucocytosis were found to be predictors of PVO.

  14. Effect of HLA-B*27 and its subtypes on clinical manifestations and severity of ankylosing spondylitis in Iranian patients.

    Directory of Open Access Journals (Sweden)

    Sasan Fallahi

    2013-12-01

    Full Text Available The aim of this study was to assess the role of HLA-B*27 and it's subtypes in determining severity and clinical manifestations of ankylosing spondylitis (AS.A total of 163 AS patients were assessed for clinical manifestations and severity using structured questionnaires. HLA-B*27 screening and B*27 sub-typing were performed by PCR.One hundred twenty two patients (74.8% were B*27 positive. The male to female ratio, peripheral arthritis, steroid use, intense dorsal kyphosis and decrease of cervical slope had a significantly higher frequency in B*27 positive patients compared to B*27 negative ones (p=0.01, 0.001, 0.01, 0.04 and 0.04, respectively. However, the age of diagnosis was significantly lower in B*27 positive patients (p=0.005. Trend in uveitis and some severity markers including: BASMI and ASQoL were toward higher values in B*27 positive group with no significant difference. After controlling confounding variables, significant relationship was found only between B*27 and BASMI (p=0.01. B*27 subtypes in patients were included B*2705: 48.4%, B*2702: 42.6%, B*2704: 5.7% and B*2707: 3.3%. No significant differences were seen for severity markers and clinical manifestations between subtypes; although trend toward lower values of severity markers, less intense dorsal kyphosis and less decrease of cervical slope were observed in B*2704 and B*2707 versus other polymorphisms.Clinical features and severity of AS is influenced by HLA-B*27. Trend toward higher severity markers in B*2705 and B*2702 versus other polymorphisms might be subject of interest for evaluation in other ethnicities with concentration to other novel susceptibility genes co-inherited in each B*27 subtype.

  15. [Recent knowledge on the linkage of strain specific genotypes with clinical manifestations of human citomegalovirus disease].

    Science.gov (United States)

    Pignatelli, Sara

    2011-01-01

    Human citomegalovirus (CMV) is a beta-herpesvirus able to establish lifelong persistent infections which usually remain asymptomatic. However, severe diseases may develop in immunocompromised subjects (e.g., AIDS patients and transplant recipients) and if acquired in utero. Circulating CMV clinical strains display genetic polymorphisms in multiple genes, which may be implicated in CMV-induced immunopathogenesis, as well as strain-specific tissue-tropism, viral spread in the host cells and virulence, finally determining the wide spectrum of clinical manifestations of CMV disease. Current literature report a number of studies regarding the main CMV polymorphic genes (UL55-gB, UL144, UL73-gN, UL74-gO), their diagnostic and therapeutic impact, their potential clinical relevance as prognostic markers. This paper aims to critically analyse the results of these studies and evaluate the linkage of strain-specific genotypes with clinical manifestations of CMV disease and their perspective implications.

  16. Hyponatremia is the valuable manifestation for initiating diagnosis of hypopituitarism in elderly.

    Science.gov (United States)

    Asano, Tomoko; Aoki, Atsushi; Sasaki, Masami; Ikoma, Aki; Kakei, Masahumi; Kawakami, Masanobu; Ishikawa, San-e

    2012-01-01

    The present study was undertaken to determine clinical features of hypopituitarism in elderly subjects. Thirty-one elderly patients with hypopituitarism were enrolled. They were 19 males and 12 females, with the ages of 70.7±5.4 years ranging from 62 to 80 years. High prevalence of hyponatremia (80.6%) and hypoglycemia (29.0%) was found, and it was totally different from that in hypopituitarism from general population. There were two groups of hyponatremia derived from their clinical courses, namely, acute deterioration of hyponatremia and chronically persistent hyponatremia. Analysis for deficient hormones clearly showed that ACTH deficiency was highly found in 30 of 31 patients. There was no difference in serum cortisol levels between the hyponatremic and normonatremic patients. Despite hypoosmolality, plasma arginine vasopressin (AVP) was apparently high in the hyponatremic patients compared with in the normonatremic ones. The present study indicates that hyponatremia is the valuable finding for initiating diagnosis of hypopituitarism, and that augmented release of AVP may be involved in developing hyponatremia in elderly patients with hypopituitarism.

  17. Clinical manifestations of human cytomegalovirus (HCMV) infection in children in the first few months of life

    OpenAIRE

    Aziza Khodjaeva

    2012-01-01

    The research objective was to study frequency of antenatal infection and record probable clinical manifestations in 100 children with HCMV born from mother with HCMV in blood and mononuclear cells. The study identified poly-systemic internal organ damage in neonates due to prenatal HCMV. Research procedures involved study of 100 pairs of patients, Mother-Child tandem, using regular clinical assessment methods per algorithm and HCMV diagnostic methods: ELISA, affinity and avidity of HCMV antib...

  18. Clinical diagnosis of tamponade in Malawi.

    Science.gov (United States)

    Round, A; Hamilton, W

    1990-07-01

    A consecutive series of 25 Malawian patients with tamponade secondary to tuberculosis were compared to 25 patients with congestive cardiac failure, without pericardial effusion in a retrospective study. More patients with tamponade had an impalpable apex beat (21/1), pulsus paradoxus (13/0), soft heart sounds (13/2), paradoxical rise in jugular venous pressure (6/0), and fewer had a murmur (1/14). All these results are significant (p less than 0.05) by the chi 2 test with Yates' correction. The presence of two or more of these discriminating physical signs has a positive predictive value of 75 per cent, and a negative predictive value of 99.5 per cent for the diagnosis of tamponade. Clinical diagnosis of tamponade by primary health care personnel in Malawi should be possible, and lead to earlier treatment.

  19. [Disseminated intravascular coagulation: clinical and biological diagnosis].

    Science.gov (United States)

    Touaoussa, Aziz; El Youssi, Hind; El Hassani, Imane; Hanouf, Daham; El Bergui, Imane; Zoulati, Ghizlane; Amrani Hassani, Moncef

    2015-01-01

    Disseminated intravascular coagulation (DIC) is a syndrome characterized by the systemic activation of blood coagulation. Its pathophysiological mechanisms are complex and dependent on the underlying pathology, making the clinical and biological expression of quite variable DIC. Among the various biological parameters disrupted, most are not specific, and none of them allows in itself to make the diagnosis. All this does not facilitate the task of the practitioner for diagnosis of overt DIC, much less that of the non-overt DIC, early stage whose treatment would improve the prognosis. These considerations have led to develop scores, combining several parameters depending on their availability in daily practice, as well as their diagnostic relevance. Of all the scores, the ISTH (International society of thrombosis and hemostasis) remains the most used.

  20. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.

    Science.gov (United States)

    Rombach, S M; Dekker, N; Bouwman, M G; Linthorst, G E; Zwinderman, A H; Wijburg, F A; Kuiper, S; Vd Bergh Weerman, M A; Groener, J E M; Poorthuis, B J; Hollak, C E M; Aerts, J M F G

    2010-09-01

    Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-Galactosidase A, causing accumulation of globotriaosylceramide and elevated plasma globotriaosylsphingosine (lysoGb3). The diagnostic value and clinical relevance of plasma lysoGb3 concentration was investigated. All male and adult female patients with classical Fabry disease could be discerned by an elevated plasma lysoGb3. In young pre-symptomatic Fabry heterozygotes, lysoGb3 levels can be normal. Individuals carrying the R112H and P60L mutations, without classical Fabry symptoms, showed no elevated plasma lysoGb3. Multiple regression analysis showed that there is no correlation of plasma lysoGb3 concentration with total disease severity score in Fabry males. However, plasma lysoGb3 concentration did correlate with white matter lesions (odds ratio: 6.1 per 100 nM lysoGb3 increase (95% CI: 1.4-25.9, p=0.015). In females, plasma lysoGb3 concentration correlated with overall disease severity. Furthermore, plasma lysoGb3 level was related to left ventricular mass (19.5+/-5.5 g increase per 10 nM lysoGb3 increase; p=0.001). In addition, it was assessed whether lifetime exposure to lysoGb3 correlates with disease manifestations. Male Fabry patients with a high lysoGb3 exposure (>10,000 U), were moderately or severely affected, only one mildly. Female patients with a low exposure (1000 U showed disease complications. Plasma lysoGb3 is useful for the diagnosis of Fabry disease. LysoGb3 is an independent risk factor for development of cerebrovascular white matter lesions in male patients and left ventricular hypertrophy in females. Disease severity correlates with exposure to plasma lysoGb3.

  1. Cugini's syndrome: its clinical history and diagnosis

    Directory of Open Access Journals (Sweden)

    Laura Gasbarrone

    2013-09-01

    Full Text Available INTRODUCTION: This article deals with the description and diagnosis of a new nosographic syndrome, which received the eponym of "Cugini's syndrome" by the name of the Author who discovered its clinical picture. This syndrome is characterized by the binomial: "minimal target organ damage associated to monitoring prehypertension". CLINICAL HISTORY AND DIAGNOSIS: Between the years 1997 and 2002, the Author published a series of investigations regarding some office normotensives who inexplicably showed incipient signs of target organ damage (TOD. Investigated via ambulatory (A blood (B pressure (P monitoring (M, these subjects were surprisingly found not to be hypertensive. Neverthless, the office normotensives with TOD exibited the daily mean level of their systolic (S and diastolic (D BP (DML SBP/DBP significantly more elevated as compared to true normotensives. Because of these ABPM findings, the Author realized that the investigated subjects were false normotensives whose TOD was associated with a monitoring prehypertension (ABPM-diagnosable prehypertension alias monitoring prehypertension alias masked prehypertension. The year after the last Cugini's investigation, the INC-7 Reports introduced the term: "prehypertension" in its classification of arterial hypertension, as an office sphygmomanometric condition in between office normotension and office hypertension. The ABPM cut-off upper limits for a differential diagnosis between monitoring normotension, prehypertension and hypertension are reported, as calculated by the Author in its collection of ABPMs. The eponym of "Cugini's syndrome" was assigned in 2007 and confirmed in 2009. CONCLUSIVE REMARKS: The monitoring prehypertension is a further condition of discrepancy between office sphygmomanometry and ABPM, as per a masked prehypertension, whose diagnosis has to be immediately diagnosed, for preventing the onset of a TOD. There are reported the present investigations dealing with the possible

  2. Probabilistic and fuzzy logic in clinical diagnosis.

    Science.gov (United States)

    Licata, G

    2007-06-01

    In this study I have compared classic and fuzzy logic and their usefulness in clinical diagnosis. The theory of probability is often considered a device to protect the classical two-valued logic from the evidence of its inadequacy to understand and show the complexity of world [1]. This can be true, but it is not possible to discard the theory of probability. I will argue that the problems and the application fields of the theory of probability are very different from those of fuzzy logic. After the introduction on the theoretical bases of fuzzy approach to logic, I have reported some diagnostic argumentations employing fuzzy logic. The state of normality and the state of disease often fight their battle on scalar quantities of biological values and it is not hard to establish a correspondence between the biological values and the percent values of fuzzy logic. Accordingly, I have suggested some applications of fuzzy logic in clinical diagnosis and in particular I have utilised a fuzzy curve to recognise subjects with diabetes mellitus, renal failure and liver disease. The comparison between classic and fuzzy logic findings seems to indicate that fuzzy logic is more adequate to study the development of biological events. In fact, fuzzy logic is useful when we have a lot of pieces of information and when we dispose to scalar quantities. In conclusion, increasingly the development of technology offers new instruments to measure pathological parameters through scalar quantities, thus it is reasonable to think that in the future fuzzy logic will be employed more in clinical diagnosis.

  3. Cutaneous Manifestations of Non-Celiac Gluten Sensitivity: Clinical Histological and Immunopathological Features

    Directory of Open Access Journals (Sweden)

    Veronica Bonciolini

    2015-09-01

    Full Text Available Background: The dermatological manifestations associated with intestinal diseases are becoming more frequent, especially now when new clinical entities, such as Non-Celiac Gluten Sensitivity (NCGS, are identified. The existence of this new entity is still debated. However, many patients with diagnosed NCGS that present intestinal manifestations have skin lesions that need appropriate characterization. Methods: We involved 17 patients affected by NCGS with non-specific cutaneous manifestations who got much better after a gluten free diet. For a histopathological and immunopathological evaluation, two skin samples from each patient and their clinical data were collected. Results: The median age of the 17 enrolled patients affected by NCGS was 36 years and 76% of them were females. On the extensor surfaces of upper and lower limbs in particular, they all presented very itchy dermatological manifestations morphologically similar to eczema, psoriasis or dermatitis herpetiformis. This similarity was also confirmed histologically, but the immunopathological analysis showed the prevalence of deposits of C3 along the dermo-epidermal junction with a microgranular/granular pattern (82%. Conclusions: The exact characterization of new clinical entities such as Cutaneous Gluten Sensitivity and NCGS is an important objective both for diagnostic and therapeutic purposes, since these are patients who actually benefit from a GFD (Gluten Free Diet and who do not adopt it only for fashion.

  4. Clinical manifestations of colorectal cancer patients from a large multicenter study in Colombia.

    Science.gov (United States)

    Bohorquez, Mabel; Sahasrabudhe, Ruta; Criollo, Angel; Sanabria-Salas, María Carolina; Vélez, Alejandro; Castro, Jorge Mario; Marquez, Juan Ricardo; Mateus, Gilbert; Bolaños, Fernando; Panqueva, Cesar; Restrepo, Jose Ignacio; Puerta, Juan Dario; Murillo, Raul; Bravo, María Mercedes; Hernández, Gustavo; Rios, Angela; Prieto, Rodrigo; Tomlinson, Ian; Echeverry, Magdalena; Carvajal-Carmona, Luis G

    2016-10-01

    Colorectal cancer (CRC) is a major public health problem, and its incidence is rising in developing countries. However, studies characterizing CRC clinicopathological features in cases from developing countries are still lacking. The goal of this study was to evaluate clinicopathological and demographic features in one of the largest CRC studies in Latin America.The study involved over 1525 CRC cases recruited in a multicenter study in Colombia between 2005 and 2014 as part of ongoing genetic and epidemiological studies. We gathered clinicopathological data such as age at diagnosis, sex, body mass index, tobacco and alcohol consumption, family history of cancer, and tumor features including location, histological type, and stage. Statistical analyses were performed to test the association between age of onset, sex, and clinical manifestations.The average age at CRC diagnosis was 57.4 years, with 26.5% of cases having early-onset CRC (diagnosed by age 50 years). Most cases were women (53.2%; P = 0.009), 49.2% were overweight or obese, 49.1% were regular alcohol drinkers, 52% were smokers/former smokers, and 12.2% reported relatives with cancer. Most tumors in the study were located in the rectum (42.7%), were adenocarcinomas (91.5%), and had advanced stage (T3-T4, 79.8%). Comparisons by sex found that male cases were more likely to be obese (36.5% vs 31.1%; P = 0.001), less likely to have a family history of cancer (9.7% vs 15.3%; P = 0.016), and more likely to have advanced-stage tumors (83.9% vs 76.1%; P = 0.036). Comparisons by age of onset found that early-onset cases were more likely to be women (59.3% vs 51.0%; P = 0.005) and report a family history of cancer (17.4% vs 10.2%; P = 0.001).To our knowledge, our study is the largest report of clinicopathological characterization of Hispanic CRC cases, and we suggest that further studies are needed to understand CRC etiology in diverse Hispanic populations.

  5. [Optic neuritis: diagnosis, treatment and clinical implications].

    Science.gov (United States)

    Steffen, Heimo; Tabibian, David

    2015-12-16

    Optic neuritis is one of the most important causes of visual loss in young and middle aged adults. The prognosis in terms of functional outcome is good. The diagnosis of optic neuritis is a clinical one. Steroids can shorten the recovery time but do not change the long term functional outcome. The MRI is the most important investiga- tion to assess an associated risk of multiple sclerosis. Optic cohe- rence tomography (OCT) contribute additional details to course and functional outcome of optic neuritis. In the future the OCT may additionally contribute to the relationship between optic neuritis and possible associated multiple sclerosis.

  6. Werner syndrome: a changing pattern of clinical manifestations in Japan (1917~2008).

    Science.gov (United States)

    Goto, M; Ishikawa, Y; Sugimoto, M; Furuichi, Y

    2013-02-01

    As ~75% of the Werner syndrome (WS) patients recognized between 1904 and 2008 all over the world are of Japanese origin, the most case reports and clinical studies on WS has been published in Japanese journals. Thus, the detailed English-written clinical review on the recent WS case reports has been warranted. Although WS has been characterized by a variety of clinical manifestations mimicking premature aging, the recent longevity and delayed age-associated manifestations observed both from Japanese WS and general population may suggest a common environmental effect on some gene(s) other than WRN and may give us a newer pathophysiological look at WS and also natural aging through the molecular dysfunction of WRN.

  7. Chronic lymphocytic leukaemia: contemporary conceptions of etiology, pathogenesis and peculiarities of clinical manifestations (review

    Directory of Open Access Journals (Sweden)

    Chesnokova N.P.

    2011-06-01

    Full Text Available The research work presents an analysis of literature review and results of investigations on the problems of etiology, pathogenesis, classification and peculiarities of clinical manifestations of chronic lymphocytic leukaemia. Special attention is paid to both contemporary conceptions of carcinogenesis, reflecting the role of proto-oncogenes activation, an-tioncogenes and apoptosis genes suppression in mechanisms of neoplasia development and «specific mechanisms» of oncogenic transformation induction of B-lymphocytes and the subsequent development of the stages of promotion, progression and marked clinical manifestations of formation. Possibility of further improvement of use of immune phe-notype character and oncomarkers in diagnostics of chronic lymphocytic leukaemia clinical variants and in evaluation of effectiveness of its therapy has been indicated in the article

  8. Generalized subcutaneous edema as a rare manifestation of dermatomyositis: clinical lesson from a rare feature.

    LENUS (Irish Health Repository)

    Haroon, Muhammad

    2011-04-01

    Generalized subcutaneous edema is a very rare manifestation of inflammatory myopathies. A 61-year-old woman presented with classic signs and symptoms of dermatomyositis. She was also noted to have generalized edema that was so florid that an alternative diagnosis was considered. Her disease was resistant to corticosteroids, azathioprine, and mycophenolate mofetil. Intravenous administration of immunoglobulins was started because of marked worsening of her disease-muscle weakness, generalized anasarca, and involvement of her bulbar muscles. This led to dramatic resolution of her subcutaneous edema and significant improvement of her skin and muscle disease. As the initial screen for malignancy was negative, a positron emission tomography-computed tomography scan was requested, which interestingly showed a metabolically active cervical tumor. Anasarca is an unusual manifestation of dermatomyositis. In treatment-refractory cases, it seems reasonable to consider positron emission tomography scan in excluding underlying malignant disease.

  9. Pyogenic sacroiliitis: diagnosis, management and clinical outcome

    Energy Technology Data Exchange (ETDEWEB)

    Kucera, Tomas; Sponer, Pavel [Charles University in Prague, Faculty of Medicine and University Hospital in Hradec Kralove, Department of Orthopaedic Surgery, Hradec Kralove (Czech Republic); Brtkova, Jindra [Charles University in Prague, Faculty of Medicine and University Hospital in Hradec Kralove, Department of Diagnostic Radiology, Hradec Kralove (Czech Republic); Ryskova, Lenka [Charles University in Prague, Faculty of Medicine and University Hospital in Hradec Kralove, Department of Clinical Microbiology, Hradec Kralove (Czech Republic); Popper, Eduard [Charles University in Prague, Faculty of Medicine and University Hospital in Hradec Kralove, Department of Rehabilitation, Hradec Kralove (Czech Republic); Frank, Martin [Charles University in Prague, Faculty of Medicine and University Hospital in Hradec Kralove, Department of Surgery, Hradec Kralove (Czech Republic); Kucerova, Marie [Regional Hospital in Pardubice, Department of Neurosurgery, Hradec Kralove (Czech Republic)

    2015-01-15

    The purpose of the present study was to evaluate the role of diagnostic tools and management options for patients with pyogenic sacroiliitis, including potential complications. This retrospective study included 16 patients with pyogenic sacroiliitis who were admitted to a single orthopaedic centre between 2007 and 2012. The following data were collected: demographics, history, radiography, magnetic resonance images (MRI), biological data, type of pathogenic agent, abscess formation, type of management, and clinical outcome. Our study demonstrated that only one-fifth of the patients with lumbogluteal or hip pain had established diagnoses of suspected pyogenic sacroiliitis upon admission. MRIs confirmed this diagnosis in all cases. MRI examinations revealed joint fluid in the sacroiliac joint and significant oedema of the adjacent bone and soft tissues. In 12 of the 16 cases, erosions of the subchondral bone were encountered. Contrast-enhanced MRI revealed that 9 patients had abscesses. All patients received antibiotic therapy. Antibiotic treatment was only successful in 9 cases. The other 7 patients underwent computed tomography (CT)-guided abscess drainage. Drainage was sufficient for 4 patients, but 3 patients required open surgery. One patient required sacroiliac arthrodesis. The clinical outcomes included minimal disability (n = 10), moderate disability (n = 5), and full disability (n = 1) of the spine. Contrast-enhanced MRI is mandatory for a reliable diagnosis. Abscess formation was observed in approximately half of the MRI-diagnosed sacroiliitis cases and required minimally invasive drainage under CT guidance or frequently open surgery. (orig.)

  10. Clinical and Laboratory Features and Extraintestinal Manifestations of Celiac Disease in Adults

    Directory of Open Access Journals (Sweden)

    Mete Akın

    2012-04-01

    Full Text Available Aim: Celiac disease an autoimmune disorder resulting from an immune response to the gluten in genetically predisposed patients. Although, diarrhea is the most common finding at presentation in adults, disease may present with extraintestinal manifestations such as anemia, osteoporosis, elevated transaminase levels and growth retardation. In this article, symptoms, extraintestinal manifestations and coexistence with other autoimmune disorders of adult patients with celiac disease were evaluated. Material and Method: 22 patients whose followed with the diagnosis of celiac disease in Suleyman Demirel University Department of Gastroenterology, between January 2007 and Semptember 2010, were evaluated retrospectively. Symptoms, extraintestinal manifestations and coexistence with other autoimmune disorders of patients at presentation were investigated. Results: 13 (59% of all cases were female and 9 (41% were male. Mean age at presentation was 38,5 years. Most common complaints were diarrhea and weakness . Tissue transglutaminase and/or antiendomysium antibody were positive, and diagnosis was confirmed by histopathologic examination in all patients. Iron deficiency, vitamine B12 deficiency and folic acid deficiency were detected in 17 (77%, 8 (36% and 6 (27% patients, respectively. There were elevated transaminase levels in 8 (36% patients. Osteoporosis was detected in 4 female and 1 male patients. Sensorimotor polineuropathy was detected in 2 patients. There was growth retardation in 2 patients. Autoimmune hypothyroidism and Type 1 diabetes mellitus were detected in 2 and 1 patients, respectively. Coexistence with Crohn%u2019s disease was detected in a patient. Discussion: Celiac disease may present with extraintestinal manifestations in adults. It should be remembered, especially in patients with iron deficiency and mild to moderate transaminase elevations with unexplained etiology. It should be considered in patients with chronic diarrhea and

  11. Latrodectism: variations in clinical manifestations provoked by Latrodectus species of spiders.

    Science.gov (United States)

    Maretić, Z

    1983-01-01

    The clinical picture caused by the bite of Latrodectus spp. is described, including the patient's general condition with agonizing pains, cramps, spasms, motor unrest, boardlike abdomen, "facies latrodectismica", sweating, oliguria, hypertension, anxiety, mental excitation and an extended convalescence. The notorious biters are mainly L. mactans, L. variolus, L. hesperus, L. tredecimguttatus, L. hasselti, L. indistinctus and L. menavodi, all of which appear to provoke somewhat similar clinical pictures. For some species, however, there is limited data and for the toxicity of some spiders, such as L. rhodesiensis, no data are available, However, it would appear that the clinical manifestations of the venom are similar in all species.

  12. Update on Medical Management of Clinical Manifestations of Chronic Kidney Disease.

    Science.gov (United States)

    Quimby, Jessica M

    2016-11-01

    Dysregulation of normal kidney functions in chronic kidney disease (CKD) leads to several pathophysiologic abnormalities that have the potential to significantly clinically affect the CKD patient. This article discusses the clinical impact of hypertension, hypokalemia, anemia, dysrexia, nausea/vomiting, and constipation in the CKD patient and therapies for these conditions. These clinical manifestations of disease may not occur in every patient and may also develop later during the progression of disease. Therefore, monitoring for, identifying, and addressing these factors is considered an important part of the medical management of CKD.

  13. Clinical manifestations of human cytomegalovirus (HCMV infection in children in the first few months of life

    Directory of Open Access Journals (Sweden)

    Aziza Khodjaeva

    2012-10-01

    Full Text Available The research objective was to study frequency of antenatal infection and record probable clinical manifestations in 100 children with HCMV born from mother with HCMV in blood and mononuclear cells. The study identified poly-systemic internal organ damage in neonates due to prenatal HCMV. Research procedures involved study of 100 pairs of patients, Mother-Child tandem, using regular clinical assessment methods per algorithm and HCMV diagnostic methods: ELISA, affinity and avidity of HCMV antibodies, and HCMV genome identification via PCR method in blood plasma and mononuclear cells. Initial clinical disease manifested in 71% of children during late neonatal period. Children who died of HCMV (5% were infected antenatal, and 39% were born prematurely. Embryonic stigma found in five cases. HCMV’s affinity to different tissues during the process of embryogenesis leads of poly-systemic damage and results in various clinical manifestations in the postnatal period. HCMV’s ability to invade mononuclear blood cells jeopardizes the antivirus defense system. The research is vital to deter the transmission of the virus and provide HCMV specific treatment to couples planning to have children.

  14. Clinical Manifestations of Cytomegalovirus-Associated Posterior Uveitis and Panuveitis in Patients Without Human Immunodeficiency Virus Infection

    NARCIS (Netherlands)

    Pathanapitoon, Kessara; Tesavibul, Nattaporn; Choopong, Pitipol; Boonsopon, Sutasinee; Kongyai, Natedao; Ausayakhun, Somsanguan; Kunavisarut, Paradee; Rothova, Aniki

    2013-01-01

    Importance: Little attention has been paid to clinical features of cytomegalovirus (CMV) infections in individuals without human immunodeficiency virus (HIV). Objective: To describe the clinical manifestations and comorbidities of patients without HIV infection who have CMV-associated posterior uvei

  15. Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Roberta Faria Camilo-Araújo

    2014-10-01

    Full Text Available Objectives: To analyze the frequency of βS-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia. Method: The frequency of βS-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3–71 months. The confirmation of hemoglobin SS and determination of the haplotypes were achieved by polymerase chain reaction-restriction fragment length polymorphism, and alpha-thalassemia genotyping was by multiplex polymerase chain reaction (single-tube multiplex-polymerase chain reaction. Results: The genotype distribution of haplotypes was 43 (36.7% Central African Republic/Benin, 41 (35.0% Central African Republic/Central African Republic, 20 (17.0% Rare/atypical, and 13 (11.1% Benin/Benin. The frequency of the α3.7 deletion was 1.71% as homozygous (−α3.7/−α3.7 and 11.9% as heterozygous (−α3.7/αα. The only significant association in respect to haplotypes was related to the mean corpuscular volume. The presence of alpha-thalassemia was significantly associated to decreases in mean corpuscular volume, mean corpuscular hemoglobin and reticulocyte count and to an increase in the red blood cell count. There were no significant associations of βS-globin haplotypes and alpha-thalassemia with clinical manifestations. Conclusions: In the study population, the frequency of alpha-thalassemia was similar to published data in Brazil with the Central African Republic haplotype being the most common, followed by the Benin haplotype. βS-globin haplotypes and interaction between alpha-thalassemia and sickle cell anemia did not influence fetal hemoglobin concentrations or the number of clinical manifestations.

  16. [Multiple erythema migrans and facial nerve paralysis: clinical manifestations of early disseminated Lyme borreliosis].

    Science.gov (United States)

    Braun, S A; Baran, A M; Boettcher, C; Kieseier, B C; Reifenberger, J

    2014-04-01

    Lyme borreliosis is a common vector-borne disease in Europe. The infection follows different stages with a broad variability of clinical symptoms and manifestations in different organs. A 49-year-old man presented with flu-like symptoms, facial nerve paralysis and multiple erythematous macular on his trunk and extremities. We diagnosed Lyme disease (stage II) with facial nerve paralysis and multiple erythema migrans. Intravenous ceftriaxone led to complete healing of hissymptoms within 2 weeks.

  17. The impact of type 2 diabetes and Microalbuminuria on future cardiovascular events in patients with clinically manifest vascular disease from the Second Manifestations of ARTerial Disease (SMART) study

    NARCIS (Netherlands)

    Soedamah-Muthu, S.S.; Visseren, F.L.J.; Algra, A.; Graaf, van der Y.

    2008-01-01

    Aims Type 2 diabetes mellitus and microalbuminuria are important risk factors for cardiovascular disease (CVD). Whether these two complications are important and independent risk factors for future CVD events in a high-risk population with clinically manifest vascular disease is unknown. The objecti

  18. Vitamin D receptor (VDR) gene polymorphisms and susceptibility to systemic lupus erythematosus clinical manifestations.

    Science.gov (United States)

    de Azevêdo Silva, J; Monteiro Fernandes, K; Trés Pancotto, J A; Sotero Fragoso, T; Donadi, E A; Crovella, S; Sandrin-Garcia, P

    2013-10-01

    Systemic lupus erythematosus (SLE) is an autoimmune disorder with heterogeneous clinical manifestations and target tissue damage. Currently, several genes have been associated with SLE susceptibility, including vitamin D receptor (VDR), which is a mediator of immune responses through the action of vitamin D. Polymorphisms in the VDR gene can impair the vitamin D (D3) function role, and since SLE patients show deficient D3 blood levels, it leads to a possible connection to the disease's onset. In our study we searched for an association between VDR polymorphisms and risk of developing SLE, as well as the disease's clinical manifestations. We enrolled 158 SLE patients and 190 Southeast Brazilian healthy controls, genotyped for five Tag single nucleotide polymorphisms (SNPs), covering most of the VDR gene region. We found an association between VDR SNPs and SLE for the following clinical manifestations: rs11168268 and cutaneous alterations (p=0.036), rs3890733 (p=0.003) rs3890733 and arthritis (p=0.001), rs2248098 and immunological alterations (p=0.040), rs4760648 and antibody anti-dsDNA (p=0.036). No association was reported between VDR polymorphisms and SLE susceptibility.

  19. Autoimmune encephalitis: Clinical diagnosis versus antibody confirmation

    Directory of Open Access Journals (Sweden)

    Asha Caroline Cyril

    2015-01-01

    Full Text Available Context: Autoimmune encephalitis is a heterogeneous disorder which is being diagnosed with increasing frequency. The diagnosis of these disorders is based on the detection of autoantibodies and characteristic clinical profiles. Aims: We aimed to study the antibody profile in encephalitis patients with suspected autoimmune etiology presenting to a tertiary care center. Settings and Design: The subjects were selected by screening all patients with clinical profile suggesting autoimmune encephalitis admitted in the neuromedical intensive care unit (ICU of a tertiary care center in South India. Materials and Methods: Patients who fulfilled modified Zuliani et al.′s, criteria for autoimmune encephalitis were identified during the period December 2009-June 2013. Blood samples from these subjects were screened for six neuronal antibodies. Statistical analysis used: Chi-square test was applied to compare the antibody positive and negative patients. Results: Out of 1,227 patients screened, 39 subjects (14 males: 25 females were identified with a mean age of 15.95 years and 19 cases were assessed in the acute and 20 in the convalescent phase of the illness. Seizure (87.8 % was the most common presenting symptom; status epilepticus occurred in 23 (60.5% patients during the course of the illness. Fourteen (35.9% patients were N-methyl-D-aspartate receptor (NMDAR antibody-positive and all were negative for the other antibodies tested. Conclusions: One-third of patients presenting with acute noninfective encephalitis would be positive for NMDAR antibodies with the remaining two-thirds with clinically suspected autoimmune encephalitis being antibody-negative. There are few markers in the clinical and investigative profiles to distinguish antibody-positive and -negative patients.

  20. Neurological manifestations, diagnosis, and treatment of celiac disease: A comprehensive review

    OpenAIRE

    Shahriar Nikpour

    2012-01-01

    Celiac disease or gluten sensitivity may initially present as one or more neurological signs and/or symptoms. On the other hand, it may be associated with or complicated by neurological manifestations. Neurological presentations are rare in children but as many as 36% of adult patients present with neurological changes. With severe malnutrition after progression of celiac disease, different vitamin deficiencies may develop. Such problems can in turn overlap with previous neurological abnormal...

  1. Clinical manifestations that predict abnormal brain computed tomography (CT in children with minor head injury

    Directory of Open Access Journals (Sweden)

    Nesrin Alharthy

    2015-01-01

    Full Text Available Background: Computed tomography (CT used in pediatric pediatrics brain injury (TBI to ascertain neurological manifestations. Nevertheless, this practice is associated with adverse effects. Reports in the literature suggest incidents of morbidity and mortality in children due to exposure to radiation. Hence, it is found imperative to search for a reliable alternative. Objectives: The aim of this study is to find a reliable clinical alternative to detect an intracranial injury without resorting to the CT. Materials and Methods: Retrospective cross-sectional study was undertaken in patients (1-14 years with blunt head injury and having a Glasgow Coma Scale (GCS of 13-15 who had CT performed on them. Using statistical analysis, the correlation between clinical examination and positive CT manifestation is analyzed for different age-groups and various mechanisms of injury. Results: No statistically significant association between parameteres such as Loss of Consciousness, ′fall′ as mechanism of injury, motor vehicle accidents (MVA, more than two discrete episodes of vomiting and the CT finding of intracranial injury could be noted. Analyzed data have led to believe that GCS of 13 at presentation is the only important clinical predictor of intracranial injury. Conclusion: Retrospective data, small sample size and limited number of factors for assessing clinical manifestation might present constraints on the predictive rule that was derived from this review. Such limitations notwithstanding, the decision to determine which patients should undergo neuroimaging is encouraged to be based on clinical judgments. Further analysis with higher sample sizes may be required to authenticate and validate findings.

  2. Clinical Evaluation of Specific Oral Manifestations in Pediatric Patients with Ascertained versus Potential Coeliac Disease: A Cross-Sectional Study

    Directory of Open Access Journals (Sweden)

    Ennio Bramanti

    2014-01-01

    Full Text Available Patients involved on coeliac disease (CD have atypical symptoms and often remain undiagnosed. Specific oral manifestations are effective risk indicators of CD and for this reason an early diagnosis with a consequent better prognosis can be performed by the dentist. There are not researches analysing the frequency of these oral manifestations in potential coeliac patients. The aim of this study is to investigate the oral hard and soft tissue lesions in potential and ascertained coeliac children in comparison with healthy controls. 50 ascertained children, 21 potential coeliac patients, and 54 controls were recruited and the oral examination was performed. The overall oral lesions were more frequently present in CD patients than in controls. The prevalence of oral soft tissue lesions was 62% in ascertained coeliac, 76.2% in potential coeliac patients, and 12.96% in controls (P<0.05. Clinical dental delayed eruption was observed in 38% of the ascertained coeliac and 42.5% of the potential coeliac versus 11.11% of the controls (P<0.05. The prevalence of specific enamel defects (SED was 48% in ascertained coeliac and 19% in potential coeliac versus 0% in controls (P<0.05; OR=3.923. The SED seem to be genetically related to the histological damage and villous atrophy.

  3. Animal models that best reproduce the clinical manifestations of human intoxication with organophosphorus compounds.

    Science.gov (United States)

    Pereira, Edna F R; Aracava, Yasco; DeTolla, Louis J; Beecham, E Jeffrey; Basinger, G William; Wakayama, Edgar J; Albuquerque, Edson X

    2014-08-01

    The translational capacity of data generated in preclinical toxicological studies is contingent upon several factors, including the appropriateness of the animal model. The primary objectives of this article are: 1) to analyze the natural history of acute and delayed signs and symptoms that develop following an acute exposure of humans to organophosphorus (OP) compounds, with an emphasis on nerve agents; 2) to identify animal models of the clinical manifestations of human exposure to OPs; and 3) to review the mechanisms that contribute to the immediate and delayed OP neurotoxicity. As discussed in this study, clinical manifestations of an acute exposure of humans to OP compounds can be faithfully reproduced in rodents and nonhuman primates. These manifestations include an acute cholinergic crisis in addition to signs of neurotoxicity that develop long after the OP exposure, particularly chronic neurologic deficits consisting of anxiety-related behavior and cognitive deficits, structural brain damage, and increased slow electroencephalographic frequencies. Because guinea pigs and nonhuman primates, like humans, have low levels of circulating carboxylesterases-the enzymes that metabolize and inactivate OP compounds-they stand out as appropriate animal models for studies of OP intoxication. These are critical points for the development of safe and effective therapeutic interventions against OP poisoning because approval of such therapies by the Food and Drug Administration is likely to rely on the Animal Efficacy Rule, which allows exclusive use of animal data as evidence of the effectiveness of a drug against pathologic conditions that cannot be ethically or feasibly tested in humans.

  4. Early clinical manifestations and eating patterns in patients with urea cycle disorders

    NARCIS (Netherlands)

    Gardeitchik, T.; Humphrey, M.; Nation, J.; Boneh, A.

    2012-01-01

    OBJECTIVES: To characterize dietary habits and eating patterns in patients with a urea cycle disorder (UCD), and to identify dietary habits that may serve as clues to lead to earlier diagnosis of these disorders. STUDY DESIGN: This was a retrospective study of clinical and dietary data from hospital

  5. Clinical and immunological manifestations in 151 SLE patients living in Dubai.

    Science.gov (United States)

    AlSaleh, J; Jassim, V; ElSayed, M; Saleh, N; Harb, D

    2008-01-01

    To gain better understanding of systemic lupus erythematosus (SLE) in Dubai we studied the clinical and immunological manifestations in a cohort of 151 patients attended Rheumatology Clinic in Dubai Hospital between January 2002 and January 2007. We found that the female to male ratio was 20.5:1, with a mean age of 35.5 years (0.9). The mean age at disease onset was 28.9 years (0.8) and mean disease duration 6.7 years (0.4). Five-year survival rate in our cohort was 94%. The commonest clinical manifestations in this cohort were arthritis (88%), haematological abnormalities (61.6%), and malar rash (60.3%). Leucopenia, fever, hair loss and proteinuria were observed in approximately half of the patients. Anaemia was found in 44.3% but only 9.9% had haemolytic anaemia. Photosensitive rash was seen in 43% of patients. Approximately one-third of the patients had serositis and mouth ulcers, 30.5 and 27.2% respectively. Vasculitis was observed in 19.2% of patients. Neuropsychiatric manifestations (15.9%), discoid lupus lesions (12.6%), and brain infarcts (13.2%) were infrequent. Subacute cutaneous lupus (6%) was also uncommon. Anti-nuclear antibodies were detected in 98%, anti-double stranded DNA antibodies in 88.7%, anti-Sm antibodies in 19.7%, anti-RNP in 40.4%, anti-Ro antibodies in 52.3% and anti-La antibodies in 19.8%. Anti-cardiolipin IgM and IgG were detected in 25.3 and 22.4%, respectively. This study suggests that Arabs with SLE residing in Dubai have comparable clinical features to their counterparts in other Arab countries and Western countries. The high prevalence of positive anti-Ro antibodies among our Arab patients probably reflects a character, that is, commonly seen in SLE patients of Middle East origin.

  6. STUDY OF CLINICAL, HAEMATOLOGICAL AND HEPATIC MANIFESTATIONS IN PATIENTS WITH FALCIPARUM MALARIA

    Directory of Open Access Journals (Sweden)

    Balaraj

    2014-05-01

    Full Text Available OBJECTIVE: Malarial infection is a major health problem in many parts of India. Several factors have been attributed to increased morbidity and mortality in malaria with altered hematological and hepatic parameters playing an important role. Our aim is to study the clinical, hematological and hepatic manifestations in patients with falciparum malaria. METHODS: This observational study was conducted from November 2012 to October 2013 at Kempegowda Institute of Medical Science and Research Hospital Bangalore. 75 patients of falciparum malaria confirmed by PS, MPQBC positive for Plasmodium falciparum or both falciparum and vivax were included in the study. All patients underwent detailed clinical history, thorough physical examination and investigated with hematological and hepatic parameters. This was followed by monitoring the outcome of the patients with respect to morbidity and mortality. Data was analyzed with descriptive statistical tools. RESULT: Of the 75 patients fever was present in all cases. Pallor (62% was the most common sign followed by splenomegaly (58% and icterus (48%. Anemia (60% was the most common complication, followed by jaundice (44%, cerebral malaria (40%, ARF (25%, ARDS (12%. 12 patients had severe anemia (Hb% <6 gm %. Severe thrombocytopenia (<50, 000 mm3 was seen in 5% of the patients. PT and APTT were increased in 23% and 12% of the cases respectively. 2 patients in the study expired. CONCLUSION: Clinical manifestations of plasmodium falciparum infection ranged from only fever to severe complications including cerebral malaria, acute renal failure, acute hemolytic crisis and hepatic dysfunction. Acute onset fever and splenomegaly were most common clinical manifestations found. Severe Anemia and jaundice are poor prognostic factor and has adverse outcome. Thrombocytopenia increased PT; aPTT does not have any correlation to mortality

  7. A REVIEW ON DISEASES MANIFESTATION BY OCULAR DISEASES USING COMPUTER AIDED DIAGNOSIS (CAD

    Directory of Open Access Journals (Sweden)

    Ridza Azri Ramlee

    2015-08-01

    Full Text Available The use of eye for diagnosis for detecting the disease has been used long time ago. However, for conventional medical practitioners this procedure are used to detect diseases that cause vision problems. This method is widely used by practitioners of alternative medicine that uses the eyes to detect the presence of disease, such as iridology practitioners. In this paper we study the method adopted by the researchers based on conventional and alternative medical practitioners to detect the presence of disease using a computer-aided diagnosis (CAD or automatically

  8. Pulmonary manifestations of leptospirosis

    Directory of Open Access Journals (Sweden)

    Sameer Gulati

    2012-01-01

    Full Text Available Leptospirosis has a spectrum of presentation which ranges from mild disease to a severe form comprising of jaundice and renal failure. Involvement of the lung can vary from subtle clinical features to deadly pulmonary hemorrhage and acute respiratory distress syndrome. Of late, it has been identified that leptospirosis can present atypically with predominant pulmonary manifestations. This can delay diagnosis making and hence optimum treatment. The purpose of this review is to bring together all the reported pulmonary manifestations of leptospirosis and the recent trends in the management.

  9. Oral candidiasis: pathogenesis, clinical presentation, diagnosis and treatment strategies.

    Science.gov (United States)

    Lalla, Rajesh V; Patton, Lauren L; Dongari-Bagtzoglou, Anna

    2013-04-01

    Oral candidiasis is a clinical fungal infection that is the most common opportunistic infection affecting the human oral cavity. This article reviews the pathogenesis, clinical presentations, diagnosis and treatmentstrategies for oral candidiasis.

  10. The Spectrum of Infectious Diseases in Kidney Transplantation: A Review of the Classification, Pathogens and Clinical Manifestations.

    Science.gov (United States)

    Anastasopoulos, Nikolaos-Andreas; Duni, Anila; Peschos, Dimitrios; Agnantis, Niki; Dounousi, Evangelia

    2015-01-01

    Kidney transplantation is the treatment-of-choice for a significant number of patients with end-stage renal disease. Renal transplant recipients (RTRs) benefit from a longer life expectancy, with a better quality of life. Despite, recent accomplishments in the field of kidney transplantation, both short- and long-term, surgical and medical complications still exist. Among these complications, cardiovascular disease, carcinogenesis and infections are the most important. Infectious diseases constitute the most common complications after renal transplantation and the second most common cause of death among RTRs with a functioning graft. Theoretically, all infectious pathogens could cause disease in immunocompromised RTRs, yet among these, one could identify more important ones, such as the Enterobacteriaceae, causing urinary tract infections; pneumonia due to Pneumocystis jirovecii; Candida species which cause invasive fungal infections; herpes viruses; hepatitis viruses and parasites. Early diagnosis and effective treatment are key elements in salvaging both the allograft and the patient. However, clinical manifestations and diagnosis of such infectious diseases are not easily identified due to the altered state of immune response of the RTR. Thus, apart from possessing a deep knowledge of the etiology and the treatment options in each case, transplant physicians should also always remain alert when dealing with RTRs.

  11. The presentation and evaluation of a case of systemic Lupus erythematosus and anthiphospholipid antibody syndrome with primary clinical manifestation of chorea

    Directory of Open Access Journals (Sweden)

    Asgary S

    1998-06-01

    Full Text Available Manifestation of chorea in patients with systemic lupus erythematosus (SLE and antiphospholipid antibody syndrome (APA synd. is not common. Moreover, primary presentation of the disease with chorea is rare and only few such cases are reported in literature in recent years. We report here the case of a 28 year old woman who was first seen at the age of 10 with clinical manifestations of chorea. Later she developed deep vein thrombosis, thrombocytpenia, stroke, cardiac valve involvement and recurrent abortions. Laboratory investigations confirmed the diagnosis of SLE and the presence of antiphospholipid antibodies. We present this patient as a case of SLE and antiphospholipid antibody syndrome with chorea being her primary clinical presentation

  12. 原发性干燥综合征合并肾小管酸中毒并发骨软化症的临床特征及诊治%Clinical Manifestation and Diagnosis of Osteomalacia in Patients with Primary Sjgren's Syndrom and Renal Tubular Acidosis

    Institute of Scientific and Technical Information of China (English)

    李凤翱; 马中书; 邱明才; 韩红玲; 贾红蔚; 崔瑾; 汤绍芳; 戴晨琳; 高桦; 郑方遒; 朱梅

    2012-01-01

    Objective To summarize the clinical manifestations and treatment of osteomalacia in patients with primary Sjogren's Syndrom and renal tubular acidosis. Methods The clinical data of 20 patients suffered from this disease and admitted in our hospital from 2003 to 2008 were analyzed retrospectively. Results All these 20 patients experienced decayed tooth, tiredness, and boneache. Among them 15 patients had had thirsty feelings and 10 suffered from scheroma. According to the clinical manifestations, bone X - ray findings, and bone mineral density, these 20 patients were divided into severe bone disease group ( n = 10 ) and mild bone disease group ( n = 10 ). The comparison of rheumatic immunological index between these two groups concluded that the positive rates of SSA and SSB and the concentration of globulin in severe group were higher than those in mild group, although the difference was not statistically significant ( P > 0. 05 ). Antinuclear antibody, rheumatoid factor, andγglobulin in severe group were significantly higher than those in mild group ( P <0. 05 ). Infiltration of lympocytes and deposition of immunoglobulin complexes were found both in kidney and muscular biopsy tissues. Tiredness and boneache were resolved after treatment. Conclusion For osteomalacia caused by the combination of primary Sjogren's syndrome and renal tubular acidosis , active immunosuppressive treatment and supplementation of large - dose vitamin D in active form may be feasible in addition to conventional acidity correction and calcium supplementation,%目的 探讨原发性干燥综合征、肾小管酸中毒并发骨软化症的临床特点和治疗效果.方法 回顾性分析天津医科大学总医院内分泌科2003-2008年收治的20例原发性干燥综合征、肾小管酸中毒并发骨软化症患者的临床资料.结果 20例患者均有龋齿、乏力、骨痛,15例患者有口干症状,10例患者有眼干症状.依据临床表现、骨X线和骨密度检查结果,20

  13. Orofacial manifestations in HIV positive children attending Mildmay Clinic in Uganda.

    Science.gov (United States)

    Nabbanja, Juliet; Gitta, Sheba; Peterson, Stefan; Rwenyonyi, Charles Mugisha

    2013-01-01

    The aim of this study was to assess the orofacial manifestations and their influence on oral function in human immunodeficiency virus (HIV) positive children attending Mildmay Clinic in Uganda. This was a cross-sectional study based on clinical examination, medical records and a structured questionnaire of 368 children aged between 1.5 and 17 years. The clinical examination for dental caries was based on decayed, extracted and filled teeth (deft) and decayed, missing and filled teeth (DMFT) indices as defined by World Health Organisation. The soft tissue orofacial lesions were assessed using the classification and diagnostic criteria as described by the Collaborative Workgroup on the Oral Manifestations of Pediatric HIV Infections. Approximately 67.4% of the children were on highly active antiretroviral therapy (HAART). The majority (77.4%) of the children had at least one orofacial lesion associated with HIV, pseudomembranous candidiasis being the most prevalent. Overall, 61.7% of the children with orofacial lesions reported at least one form of discomfort in the mouth. Discomfort was particularly associated with swallowing. The prevalence of orofacial lesions was significantly higher in children with poor oral hygiene and lower in those on HAART than in their respective counterparts. The CD4+ cell count, age and gender of the children did not significantly influence the distribution of orofacial lesions. The mean deft and DMFT scores were 11.8 and 2.7, respectively. The d- and D-components contributed 54.7 and 42.1%, respectively. Consumption of sugary snacks was directly associated with dental caries. Despite these children attending an HIV care centre of excellence, they have a high prevalence of orofacial manifestations associated with HIV. The majority of the children experienced discomfort in the oral cavity, particularly during swallowing.

  14. Clinical spectrum of cutaneous manifestations in renal and renopancreatic recipients in two centers in Uruguay.

    Science.gov (United States)

    Dufrechou, L; Nin, M; Curi, L; Larre Borges, P; Martínez Asuaga, M; Noboa, O; Orihuela, S; González-Martínez, F; Larre Borges, A

    2014-11-01

    Uruguay, with a total population of 3,345,000 inhabitants, is the Latin American country with the second highest number of renal replacement therapies. Long-term immunosuppressant therapy is essential for graft survival but results in reduced immunosurveillance, leading to an increased risk of complications. A variety of dermatological manifestations and a large increase in nonmelanoma skin cancers have been reported in this population. The purpose of this study was to evaluate the frequency and clinical spectrum of cutaneous manifestations in renal and renopancreatic recipients in 2 reference centers in Uruguay. Two hundred and six renal or renopancreatic recipients between 21 and 77 years old were evaluated between September 2009 and September 2011. A total of 206 dermatoses were observed; 60% of the patients had at least 1 cutaneous manifestation. The most frequent dermatoses were cutaneous side effects due to immunosuppressive treatment (40.6%), followed by infections (26.1%), miscellaneous causes (18.9%), and malignant and premalignant lesions (14.4%). Transplant recipients represent a high-risk dermatological population. Physicians in transplant units should be aware of the importance of dermatological screening in order to promote early detection of skin cancer.

  15. Extrahepatic manifestations of Hepatitis C Virus infection: a general overview and guidelines for a clinical approach.

    Science.gov (United States)

    Zignego, A L; Ferri, C; Pileri, S A; Caini, P; Bianchi, F B

    2007-01-01

    Hepatitis C Virus is associated with a wide series of extrahepatic manifestations. Based on available data the link between the virus and some of these extrahepatic diseases is only suggested and needs further confirmation. Hepatitis C Virus-related lymphoproliferative disorders, whose prototype is mixed cryoglobulinaemia, represent the most closely related extrahepatic manifestations of Hepatitis C Virus. Other Hepatitis C Virus-associated disorders include nephropathies, thyreopathies, sicca syndrome, idiopathic pulmonary fibrosis, porphyria cutanea tarda, lichen planus, diabetes, chronic polyarthritis, cardiopathy and atherosclerosis. A pathogenetic link between Hepatitis C Virus and some extrahepatic manifestations was confirmed by their responsiveness to antiviral therapy, which is now deemed the first therapeutic option to consider. By contrast, there are diseases where treatment with interferon was ineffective or dangerous. The aim of the present paper is to outline the most recent evidence concerning extrahepatic disorders that are possibly associated with Hepatitis C Virus infection. Special emphasis will be given to discussion of the most appropriate clinical approaches to be adopted in order to diagnose, treat (possibly prevent) and follow-up extrahepathic diseases in patients with Hepatitis C Virus infection.

  16. A comparative study of clinical manifestations caused by tuberculosis in immunocompromised and non-immunocompromised patients

    Institute of Scientific and Technical Information of China (English)

    邵长周; 瞿介明; 何礼贤

    2003-01-01

    Objective To characterize the differences between clinical manifestations in immunocompromised patients (ICPs) and non-immunocompromised patients (non-ICPs) with tuberculosis.Methods Underlying diseases, clinical presentations, misdiagnosis, treatment and prognosis, etc, were analyzed retrospectively in 115 tuberculosis patients, including 39 ICPs and 76 non-ICPs.Results Compared with non-ICPs, the individuals who were ICP had more expectoration (64.1% vs 35.5%), pulmonary moist rale (41.0% vs 9.2%), miliary pulmonary tuberculosis (30.8% vs 2.6%), pleural effusion (48.7% vs 25.0%) and lymphadenopathy (18.0% vs 4.0 %). ICPs had less lung cavity (15.4% vs 22.4%) and pleural thickening (15.4% vs 23.7%) compared to non-ICPs. Pulmonary tuberculosis in ICPs was prone to be misdiagnosed as pneumonia (23.1% vs 6.6%). Pulmonary tuberculosis was found in the apicoposterior segment (SI+SII) in more cases in non-ICPs (21.7%, 10/46) than ICPs (10.3%, 3/29). The diagnostic value of tuberculin skin test and adenosine deaminase in pleural effusions was limited in ICPs. ICPs had significantly poorer prognoses than non-ICPs.Conclusion The clinical manifestations of ICPs with tuberculosis are atypical, misdiagnosis often occurs, resulting in a worse prognosis.

  17. Frequency and clinical manifestations of post-poliomyelitis syndrome in a brazilian tertiary care center

    Directory of Open Access Journals (Sweden)

    Abrahão Augusto Juviniano Quadros

    2012-08-01

    Full Text Available OBJECTIVE: To determine the frequency and clinical manifestations of patients with post-poliomyelitis syndrome (PPS in a Brazilian division of neuromuscular disorders. METHODS: A total of 167 patients with prior history of paralytic poliomyelitis was investigated for PPS, based on international diagnostic criteria. Other variables analyzed were: gender, race, age at poliomyelitis infection, age at PPS onset, and PPS symptoms. RESULTS: One hundred and twenty-nine patients presented PPS, corresponding to 77.2% of the studied population. 62.8% were women and 37.2% were men. Mean age of patients with PPS at onset of PPS symptoms was 39.9±9.69 years. Their main clinical manifestations were: new weakness in the previously affected limbs (69% and in the apparently not affected limbs (31%; joint pain (79.8%; fatigue (77.5%; muscle pain (76%; and cold intolerance (69.8%. CONCLUSIONS: Most patients of our sample presented PPS. In Brazil, PPS frequency and clinical features are quite similar to those of other countries.

  18. A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing.

    Science.gov (United States)

    Jian-Bing, Wu; Cheng-Rang, Li; Yi-Ping, Ma; Nan, Sheng; Hui, Li; Lin, Lin

    2016-02-01

    Bloom syndrome, a rare autosomal-recessive disorder, characteristically presents with photosensitivity, telangiectatic facial erythema, and growth deficiency. We present a case of Bloom syndrome with uncommon clinical manifestations including alopecia areata, eyebrow hair loss, flat nose, reticular pigmentation, and short sharpened distal phalanges with fingernails that were wider than they were long. We detected the Bloom syndrome gene, BLM, which is one of the members of the RecQ family of DNA helicases, and found changes in 2 heterozygous nucleotide sites in the patient as well as her father and mother.

  19. [Complete atrioventricular block as the first clinical manifestation of a tick bite (Lyme disease)].

    Science.gov (United States)

    Bacino, Luca; Gazzarata, Massimo; Siri, Giambattista; Cordone, Stefano; Bellotti, Paolo

    2011-03-01

    A 52-year-old male patient presented to the emergency department because of malaise and frequent dizziness. The ECG revealed high-grade atrioventricular block that required placement of a temporary pacemaker. There were no other abnormalities in physical and echocardiographic examination, and coronary angiography excluded the presence of coronary artery disease. IgM and IgG antibodies against Borrelia were positive, and antibiotic therapy with ceftriaxone at the dose of 2 g/die for 15 days resulted in rapid regression of atrioventricular block. Seven-day ECG recording immediately after discharge and 24h ECG monitoring at 40 days confirmed the total disappearance of atrioventricular block. This represents a case of atrioventricular block as the first manifestation of Borrelia infection (Lyme disease). A prompt diagnosis and antibiotic therapy usually result in complete resolution of atrioventricular block without the need for a permanent pacemaker.

  20. Clinical manifestations of cluster headache accompanied by chronic asosinusitis%慢性鼻窦炎伴原发性头痛的临床分析

    Institute of Scientific and Technical Information of China (English)

    杨弋; 黄魏宁

    2011-01-01

    Objective:To master the clinical manifestations of rhinogenic headache and improve the diagnostic ability of chronic rhinosinusitis accompanied by primary headache. Method:The clinical manifestations,the diagnostic process,and the treatment of 1 patient with headache were analyzed, and also the related articles were studied. Result:Rhinogenic headache and primary headache had different clinical features and different treatment. In clinical work misdiagnosis were easily made if not being carefully analyzed. Conclusion: Diagnosis of rhinogenic headache don't need strong clinical evidence, but the differential diagnosis of other headache should be made.%目的:探讨鼻源性头痛的临床特征,提高对伴原发性头痛的鼻源性头痛的认识.方法:对1例慢性鼻窦炎伴原发性头痛患者的临床特征及诊疗过程等进行分析.结果:鼻源性头痛与原发性头痛有不同的临床特点及治疗方法,在临床工作中若不仔细分析鉴别极易造成误诊.结论:鼻源性头痛的诊断需要严格的临床证据支持,但仍应该排除其他性质的头痛.

  1. Clinical, biochemical, and radiological manifestations of vitamin D deficiency in newborns presented with hypocalcemia

    Directory of Open Access Journals (Sweden)

    Ashraf Soliman

    2013-01-01

    Full Text Available Introduction: The Clinical and radiological manifestations of newborns with severe VDD have not been studied well. Materials and Methods: We studied the clinical, biochemical, and radiological manifestations of 10 full-term (FT newborns (6: M, 4: F infant presented to with symptomatic hypocalcemia (seizure secondary to vitamin D deficiency (VDD during the first 10 days of life are described. All were exclusively breastfed since birth. All their mothers have low 25 hydroxy vitamin D (25OHD level 60 ng/mL and 60% had decreased magnesium (Mg concentrations (<0.7 mmol/L. Their alkaline phosphatase (ALP concentrations were significantly higher than normal newborns. All other laboratory results (liver function tests, urea and electrolytes, C reactive protein, lumbar puncture, blood culture, and lactate were normal. In all patients, seizures ceased within 2 days of starting treatment with alphacalcidol and calcium. Radiological manifestations included metaphyseal band of relative lucency (osteopenia, just under the line of provisional calcification, within distal radius (7/10, femur (4/10, and tibia (3/10, mild cupping and haziness of distal radius (2/10. Discussion: Newborns with VDD had significantly lower serum calcium, ALP and PTH and higher phosphate concentrations, compared to older infants with VDD rickets. In newborns with VDD, serum calcium levels were correlated significantly with 25OHD (r = 0.597, P < 0.001, Mg concentrations (r = 0.436, P < 0.001 and negatively with ALP concentrations (r = −0.451, P < 0.001. Serum PTH concentrations were correlated significantly with serum Mg (r = 0.78, P < 0.0001 but not with serum calcium (r = −0.103, P = 0.3 or 25OHD (r = −0.03, P = 0.7 concentrations. Conclusion: The clinical, biochemical, and radiological manifestations of VDD in newborns indicate that they are less adapted to VDD compared to older infants. VD supplementation for mothers and newborns should be considered to avoid short

  2. EULAR recommendations for the management of systemic lupus erythematosus with neuropsychiatric manifestations : report of a task force of the EULAR standing committee for clinical affairs

    NARCIS (Netherlands)

    Bertsias, G. K.; Ioannidis, J. P. A.; Aringer, M.; Bollen, E.; Bombardieri, S.; Bruce, I. N.; Cervera, R.; Dalakas, M.; Doria, A.; Hanly, J. G.; Huizinga, T. W. J.; Isenberg, D.; Kallenberg, C.; Piette, J. C.; Schneider, M.; Scolding, N.; Smolen, J.; Stara, A.; Tassiulas, I.; Tektonidou, M.; Tincani, A.; van Buchem, M. A.; van Vollenhoven, R.; Ward, M.; Gordon, C.; Boumpas, D. T.

    2010-01-01

    Objectives To develop recommendations for the diagnosis, prevention and treatment of neuropsychiatric systemic lupus erythematosus (NPSLE) manifestations. Methods The authors compiled questions on prevalence and risk factors, diagnosis and monitoring, therapy and prognosis of NPSLE. A systematic lit

  3. [Clinical manifestations of "Hunger Disease" among children in the ghettos during the Holocaust].

    Science.gov (United States)

    Hercshlag-Elkayam, Orit; Even, Lea; Shasha, Shaul M

    2003-05-01

    The harsh life in the ghettos were characterized by overcrowding, shortage of supplies (e.g. money, sanitation, medications), poor personal hygiene, inclement weather and exhaustion. Under these conditions, morbidity was mainly due to infectious diseases, both endemic and epidemic outbreaks with a high mortality rate. The dominant feature was hunger. Daily caloric allowance was 300-800, and in extreme cases (i.e. Warsaw ghetto) it was only 200 calories. The food was lacking important nutrients (e.g. vitamins, trace elements) leading to protean clinical expression, starvation and death. The clinical manifestations of starvation were referred to as "the Hunger Disease", which became the subject of research by the medical doctors in the ghettos, mainly in the Warsaw ghetto in which a thorough documentation and research were performed. The first victims of hunger were children. First they failed to thrive physically and later mentally. Like their elders, they lost weight, but later growth stopped and their developmental milestones were lost with the loss of curiosity and motivation to play. The mortality rate among babies and infants was 100%, as was described by the ghetto doctors: "when the elder children got sick, the small ones were already dead...". In the last weeks of the ghettos there were no children seen in the streets. In this article the environmental conditions and daily life of children in the ghettos are reviewed, and the manifestations of "Hunger Disease" among them is scrutinized.

  4. The role of diabetes on the clinical manifestations of pulmonary tuberculosis

    DEFF Research Database (Denmark)

    Faurholt-Jepsen, Daniel; Range, Nyagosya; PrayGod, George;

    2012-01-01

    Objective: Diabetes is associated with pulmonary tuberculosis (TB), possibly due to impaired immunity, and diabetes may exacerbate the clinical manifestations of TB. Our aim was to assess the role of diabetes in the clinical manifestations of TB. Methods: We studied 1250 patients with pulmonary TB...... in an urban population in a cross-sectional study in Tanzania. All participants were tested for diabetes and HIV co-infection, and TB culture intensity was assessed. Levels of white blood cells, haemoglobin, acute phase reactants, CD4 count and HIV viral load were measured, and a qualitative morbidity...... questionnaire was used to identify the prevalence of disease-related symptoms. Results: Tuberculosis patients with diabetes had a higher neutrophil count (B 0.5 x 10 9 cells/ l, 95% CI 0.2; 0.9, P = 0.001) than non-diabetic TB patients. Serum C-reactive protein (B 18.8 mg / l, CI 95% 8.2; 29.4, P = 0...

  5. The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency

    Directory of Open Access Journals (Sweden)

    Szczawinska-Poplonyk Aleksandra

    2011-11-01

    Full Text Available Abstract The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a heterogeneous genetic origin. Two distinct entities - the classical hyper-IgE syndrome which is inherited in an autosomal dominant pattern and the autosomal recessive hyper-IgE syndrome have been recognized. The autosomal dominant hyper-IgE syndrome is associated with a cluster of facial, dental, skeletal, and connective tissue abnormalities which are not observable in the recessive type. In the majority of affected patients with autosomal dominant hyper-IgE syndrome a mutation in the signal transducer and the activator of the transcription 3 gene has been identified, leading to an impaired Th17 cells differentiation and to a downregulation of an antimicrobial response. A mutation in the dedicator of the cytokinesis 8 gene has been identified as the cause of many cases with autosomal recessive hyper-IgE syndrome and, in one patient, a mutation in tyrosine kinase 2 gene has been demonstrated. In this paper, the authors provide a review of the clinical manifestations in the hyper-IgE syndromes with particular emphasis on the diversity of their phenotypic expression and present current diagnostic guidelines for these diseases.

  6. Oral manifestations of HIV/AIDS in clients attending TASO clinics in Uganda.

    Science.gov (United States)

    Tirwomwe, J F; Rwenyonyi, C M; Muwazi, L M; Besigye, B; Mboli, F

    2007-09-01

    The objective of the study is to establish the prevalence of oral manifestations and their influence on oral functions. A total of 514 subjects aged 18 to 58 years (mean 42 years) were randomly recruited from five The AIDS Support Organization (TASO) clinics in Uganda. They were clinically examined for oral lesions under field conditions by four trained dentists based on World Health Organization criteria. Women constituted 74.5% of the study population. Oral manifestations were recorded in 72% of the subjects, out of which 70% had candidiasis of pseudomembranous, erythematous, and angular cheilitis variants. Non-Hodgkin's lymphoma, atypical ulcers, necrotizing periodontitis, and hairy leucoplakia were least frequently observed in the subjects. Of those who had oral lesions (n = 370), 68.4% had some form of discomfort in the mouth. Tooth brushing, chewing, and swallowing were frequently associated with discomfort. Reported forms of discomfort were dry mouth, increased salivation, and burning sensation especially on taking salty and spicy foods or acidic drinks. Only 8.5% (n = 44) of the subjects were taking medications specifically for oral lesions, which included antifungal, antiviral, and antibacterial agents. None of the subjects were on antiretroviral therapy. Oral lesions associated with human immunodeficiency virus/acquired immunodeficiency syndrome in TASO clients is a major public health problem requiring education in recognition and appropriate management.

  7. Parasomnias: Diagnosis, Classification and Clinical Features

    Directory of Open Access Journals (Sweden)

    Fatma Ozlem Orhan

    2009-10-01

    Full Text Available Parasomnias, as described in the recent second edition of the International Classification of Sleep Disorders, are “undesirable physical events or experiences” occurring during sleep transition, during arousal from sleep, or within the sleep period. These events encompass abnormal sleep related movements, behaviors, emotions, perceptions, dreaming, and autonomic nervous system functioning. Parasomnias are classified as: 1 disorders of arousal (from non-rapid eye movement, or NREM, sleep; 2 parasomnias usually associated with REM (rapid eye movement sleep; and 3 other parasomnias. This sleep disorders in childhood are common, and often more frequent than in adults. Clinicians should be aware that many pediatric parasomnias have benign and self-limited nature. Most of the parasomnias may not persist into late childhood or adolescence. Parasomnias in adults often differ in type from childhood parasomnias and may portend significant psychiatric disturbances or neurodegenerative disorders. A reliable diagnosis can often be made from a detailed history from the patient and, if possible, the parents or bed partner. Detailed overnight investigations of parasomnias are usually not required. The non-REM parasomnias are more common in community although REM parasomnias are more likely to be seen in general neurological practice. Sleep related eating disorder, sleep related dissociative disorders and sleep related sexual behavior and sleep related violence are novel and rarely reported sleep disorders. REM sleep behavior disorder is common and should be sought in all neurodegenerative diseases. They are included among clinical disorders due to the resulting injuries, and adverse health and psychosocial effects, which may affect the bed partner as well as the patient. Finally, parasomnias are common disturbances of sleep that may significantly affect the patient’s quality of life and that of the bed partner. Therefore, appropriate diagnostic and

  8. A recently isolated Lassa virus from Mali demonstrates atypical clinical disease manifestations and decreased virulence in cynomolgus macaques.

    Science.gov (United States)

    Safronetz, David; Strong, James E; Feldmann, Friederike; Haddock, Elaine; Sogoba, Nafomon; Brining, Douglas; Geisbert, Thomas W; Scott, Dana P; Feldmann, Heinz

    2013-04-15

    The virulence of Soromba-R, a Lassa virus strain recently isolated from southern Mali, was assessed in 2 animal models of Lassa fever: inbred strain 13 guinea pigs and cynomolgus macaques. In both models, the Malian isolate demonstrated tissue tropism and viral titers similar to those of historical Lassa virus isolates from Sierra Leone (Josiah) and Liberia (Z-132); however, the Soromba-R isolate was found to be less pathogenic, as determined by decreased mortality and prolonged time to euthanasia in macaques. Interestingly, in addition to the classic indicators of Lassa fever, Soromba-R infection presented with moderate to severe pulmonary manifestations in the macaque model. Analysis of host responses demonstrated increased immune activation in Soromba-R-infected macaques, particularly in neutrophil-activating or -potentiating proinflammatory cytokines or growth factors, including tumor necrosis factor α, macrophage inflammatory protein 1α, interleukin 1β, and granulocyte colony-stimulating factor, as well as interleukin 5, which may be responsible for the decreased lethality and uncharacteristic clinical presentation. These results suggest that the strain of Lassa virus circulating in Mali might be less pathogenic than strains circulating in the historical region of endemicity and may result in an atypical presentation for Lassa fever, which could complicate clinical diagnosis.

  9. Research note. Clinical reports and analysis of patients with clinical manifestations of migraine-like headache and unruptured aneurysm.

    Science.gov (United States)

    Zhao, M

    2015-02-13

    A retrospective analysis of three cases of clinical manifestations of migraine-like headache, including clinical features, imaging findings, and follow-up results was done to explore the potential correlation between migraine and unruptured aneurysm. Clinical data and digital subtraction angiography (DSA) results were retrospectively analyzed. All three patients met the diagnostic criteria for migraine without aura stated in the second edition of the International Classification of Headache Disorders, established by the International Headache Society in 2004. The DSA results suggested that the aneurysms occurred in the anterior communicating artery (two cases) and in the internal carotid artery (one case); the migraine attacks disappeared after aneurysm embolization, with a follow-up time of 6, 10, and 16 months in the three cases, respectively. The pathogenesis of migraine is not fully understood; however, the potential correlation between migraine attack and unruptured saccular aneurysm needs attention, and the specific pathogenesis should be further investigated.

  10. Delayed diagnosis of ocular syphilis that manifested as retinal vasculitis and acute posterior multifocal placoid epitheliopathy

    Directory of Open Access Journals (Sweden)

    Jong Hoon Park

    2013-01-01

    Full Text Available A 55-year-old female presented with bilateral progressive retinal vasculitis. She was on systemic and intravitreal steroids on the basis of uveitis work-up result (negative result including rapid plasma reagin, but her visual acuity continued to deteriorate to light perception only. Ocular examination showed retinal vasculitis, multiple yellow placoid lesions and severe macula edema in both eyes. Repeated work-up revealed positivity of fluorescent treponemal antibody-absorption in serum and subsequently in cerebrospinal fluid. Ocular syphilis was diagnosed. And intravenous penicillin G resulted in rapid resolution of vasculitis and macular edema. To avoid delay in the diagnosis of ocular syphilis, high index of suspicion and repeating serological tests (including both treponemal and non-treponemal tests are warranted.

  11. Panuveitis as a manifestation of ocular syphilis leading to HIV diagnosis

    Directory of Open Access Journals (Sweden)

    Jay Kumar Chhablani

    2010-01-01

    Full Text Available Syphilis is a rare cause of panuveitis. We present the case of a 33-year-old man who presented with diminution of vision of three months duration in his left eye (OS, without any other systemic illness. Ophthalmic examination showed features of pauveitis with dense vitreous exudates, disc pallor and sheathing of vessels on fundoscopy. A diagnosis of probable endogenous endophthalmitis was made and vitreous tap performed. Vitreous biopsy showed no growth of fungus or bacteria. Rapid plasma reagin (RPR and Treponema pallidum hemagglutination (TPHA test were positive. Enzyme-Linked Immuno Sorbent Assay (ELISA and Western Blot test were then performed, which revealed concurrent HIV infection. The patient improved dramatically with intravenous penicillin therapy. HIV positive patients may present with panuveitis secondary to ocular syphilis, as the only presenting feature in HIV positive patient in absence of any other systemic features.

  12. 梅毒少见的临床表现%Rare clinical manifestations of syphilis

    Institute of Scientific and Technical Information of China (English)

    蒲新露; 季必华

    2013-01-01

    Due to non-standardized administration of antibiotics,changes in homosexual behavior,human immunodeficiency virus co-infection,missed diagnosis of syphilis during pregnancy,and non-administration of benzathine benzylpenicillin for syphilis treatment in the first and last three months of pregnancy,many uncommon or rare manifestations haven been observed in syphilitic patients with the involvement of skin,mucous membrane,bone,joints,cardiovascular system,nervous system,alimentary system and respiratory system,which increases difficulties in the diagnosis and treatment of syphilis.This paper presents atypical syphilis cases reported at home and abroad in recent years,in hope to enhance clinicians' understanding of syphilis,so as to facilitate early diagnosis of syphilis and reduce systemic damages caused by syphilis.%由于抗生素的不规范使用,同性恋人群性行为的变化,合并HIV感染,孕期梅毒未发现及孕期前后3个月内未给予苄星青霉素治疗等因素,均可导致梅毒感染者发生皮肤黏膜、骨关节、心血管系统、神经系统、消化系统及呼吸系统少见或不典型病变,给诊断及治疗带来困难.概述近年来报道的梅毒少见临床表现,为临床医生提供更广泛的思路,及早发现及诊断梅毒,减少梅毒引起的系统性损害.

  13. Metabolic diagnosis and medical prevention of calcium nephrolithiasis and its systemic manifestations: a consensus statement

    NARCIS (Netherlands)

    G. Gambaro (Giovanni); Croppi, E. (Emanuele); Coe, F. (Fredric); Lingeman, J. (James); Moe, O. (Orson); Worcester, E. (Elen); N.N.-P. Buchholz (Noor); Bushinsky, D. (David); Curhan, G.C. (Gary C.); Ferraro, P.M. (Pietro Manuel); Fuster, D. (Daniel); Goldfarb, D.S. (David S.); Heilberg, I.P. (Ita Pfeferman); B. Hess (Bernhard); Lieske, J. (John); Marangella, M. (Martino); Milliner, D. (Dawn); Preminger, G.M. (Glen M.); Reis Santos, J.M. (Jose’ Manuel); Sakhaee, K. (Khashayar); Sarica, K. (Kemal); R. Siener (Roswitha); Strazzullo, P. (Pasquale); Williams, J.C. (James C.); Bartoletti, R.; Buchholz, N.; Bushinsky, D.; Capasso, G.B.; Cicerello, E.; Coe, F.; Cupisti, A.; Curhan, G.C.; Desai, J.; Fabris, A.; Ferraro, P.M.; Fuster, D.; Gambaro, G.; Goldfarb, D.S.; Heilberg, I.P.; Hess, B.; Jaeger, P. (Ph); Z. Kirkali (Ziya); D.J. Kok (Dirk); Letavernier, E.; Lieske, J.; Lingeman, J.; Marangella, M.; Mazzaferro, S.; Moe, O.; Milliner, D.; Nouvenne, A.; Preminger, G.M.; Prie, D.; Reis Santos, J.; Rendina, D.; Sarica, K.; Siener, R.; Soldati, L.; Strazzullo, P.; Tasca, A.; Trinchieri, A.; Vezzoli, G.; Vitale, C.; Wu, W.; Williams, J.C.; Worcester, E.

    2016-01-01

    textabstractBackground: Recently published guidelines on the medical management of renal stone disease did not address relevant topics in the field of idiopathic calcium nephrolithiasis, which are important also for clinical research. Design: A steering committee identified 27 questions, which were

  14. Femoral hernia; Clinical significance of radiologic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Bergenfeldt, M.; Lasson, A. (Lund University (Sweden). Department of Surgery Malmo General Hospital (Sweden)); Ekberg, O.; Kesek, P. (Lund University (Sweden). Department of Radiology Malmo General Hospital (Sweden))

    A retrospective study of 18 patients with femoral hernia assessed by herniography is presented. Although a palpable lump was present in 11 patients (61%), the diagnosis of a femoral hernia was not made before herniography. Surgical exploration was performed in 12 patients and a femoral hernia was found and repaired with beneficial outcome in 9 of them. In conclusion: herniography is of value for the diagnosis of a femoral hernia in patients with obscure groin pain. (author). 14 refs.; 2 figs.

  15. Sciatica as the first manifestation of synovial sarcoma. Contribution of magnetic resonance imaging to the diagnosis; Sciatique revelatrice d`un synovialosarcome. Interet de l`IRM

    Energy Technology Data Exchange (ETDEWEB)

    Veillard, E.; Le Dantec, P.; Chales, G.; Jean, S.; Pawlotsky, Y. [Centre Hospitalier Universitaire, 35 - Rennes (France)

    1995-07-01

    A 38-year-old man presented with paralyzing sciatica as the first manifestation of synovial sarcoma of his right leg. Although neurologic symptoms sometimes occur as manifestations of synovial sarcoma, they are exceptionally inaugural. Magnetic resonance imaging is a valuable tool in patients with synovial tumors, both for establishing the diagnosis and for evaluating the extent of the lesion. (authors). 13 refs., 3 figs.

  16. Clinical features and diagnosis for Chinese cases with malignant hyperthermia: a case cluster from 2005 to 2007

    Institute of Scientific and Technical Information of China (English)

    WANG Ying-lin; LUO Ai-lun; TAN Gang; CUI Xu-lei; GUO Xiang-yang

    2010-01-01

    Background Malignant hyperthermia (MH), manifesting as MH crisis during and/or after general anesthesia, is a potentially fatal disorder in response to volatile anesthetics and depolarizing muscle relaxants.Though typical features of MH episode can provide clues for clinical diagnosis, MH susceptibility is confirmed by in vitro caffeine-halothane contracture test (CHCT) in western countries.It is traditionally thought that MH has less incidence and fewer typical characteristics in Chinese population than their western counterparts because of the different genetic background.In this study, we investigated the clinical features of MH in Chinese cases and applied the clinical grading scale and CHCT for diagnosis of MH.Methods A cluster of three patients with MH, from January 2005 to December 2007, were included in the study.Common clinical presentations and the results of some lab examinations were reported in detail.The method of the clinical grading scale of diagnosis of MH was applied to estimate the qualitative likelihood of MH and predict MH susceptibility.Muscle fibers of femoral quadriceps of the patients were collected and CHCT was performed to confirm the diagnosis of MH.Results The clinical grading scales of diagnosis of the disease for these cases were all ranked grade D6, suggesting almost diagnosed ones.And the results of caffeine test were positive correspondingly, indicating that the patients should be diagnosed as MH susceptibility (MHS) according to diagnostic criteria of the North America MH group, which were already confirmed by clinical presentations and biochemical results.Conclusions These Chinese cases manifest as MH crisis.The clinical grading scale of diagnosis of MH may provide clues for clinical diagnosis.CHCT can also be used in confirming diagnosis of MH in Chinese cases though they have different genetic background from their western counterparts.

  17. Huntington's disease - clinical signs, symptoms, presymptomatic diagnosis, and diagnosis.

    Science.gov (United States)

    Shannon, Kathleen M

    2011-01-01

    HD is a complex illness, with a broad clinical picture that begins years before clear motor onset and evolves over decades to a terminal state of extreme disability. It challenges the resources of families and communities and the skills of medical and ancillary health care providers. A broader understanding of the phenotypes, progression, and genetic basis of HD may elevate the standard of care for these deserving patients.

  18. Season of birth, clinical manifestations and Dexamethasone Suppression Test in unipolar major depression

    Directory of Open Access Journals (Sweden)

    Kaprinis George S

    2007-08-01

    Full Text Available Abstract Background Reports in the literature suggest that the season of birth might constitute a risk factor for the development of a major psychiatric disorder, possibly because of the effect environmental factors have during the second trimester of gestation. The aim of the current paper was to study the possible relationship of the season of birth and current clinical symptoms in unipolar major depression. Methods The study sample included 45 DSM-IV major depressive patients and 90 matched controls. The SCAN v. 2.0, Hamilton Depression Rating Scale (HDRS and Hamilton Anxiety Scale (HAS were used to assess symptomatology, and the 1 mg Dexamethasone Suppression Test (DST was used to subcategorize patients. Results Depressed patients as a whole did not show differences in birth season from controls. However, those patients born during the spring manifested higher HDRS while those born during the summer manifested the lowest HAS scores. DST non-suppressors were almost exclusively (90% likely to be born during autumn and winter. No effect from the season of birth was found concerning the current severity of suicidal ideation or attempts. Discussion The current study is the first in this area of research using modern and rigid diagnostic methodology and a biological marker (DST to categorize patients. Its disadvantages are the lack of data concerning DST in controls and a relatively small size of patient sample. The results confirm the effect of seasonality of birth on patients suffering from specific types of depression.

  19. Clinical Manifestations Associated with Overweight/Obesity in Puerto Ricans with Fibromyalgia Syndrome

    Science.gov (United States)

    Fred-Jiménez, Ruth M.; Arroyo-Ávila, Mariangelí; Mayor, Ángel M.; Ríos, Grissel; Vilá, Luis M.

    2016-01-01

    Objective. To determine the clinical manifestations associated with overweight/obesity in Hispanics from Puerto Rico with fibromyalgia syndrome (FMS). Methods. A cross-sectional study was performed in 144 patients with FMS (per American College of Rheumatology (ACR) classification criteria). Sociodemographic features, FMS-related symptoms, tender points (per ACR criteria), comorbidities, and FMS treatment were examined. BMI was calculated and patients were grouped into two categories: BMI ≤ 24.9 kg/m2 (nonoverweight/obese) and BMI ≥ 25 kg/m2 (overweight/obese). Bivariate and multivariate analyses were used to evaluate differences between the study groups. Results. The mean (standard deviation (SD)) age of patients was 50.2 (9.9) years; 95.1% were females and 75.7% were overweight/obese. In the bivariate analysis, overweight/obese patients were more likely to have self-reported memory impairment, anxiety, shortness of breath, and urinary frequency than nonoverweight/obese patients. In addition, the tender point count was higher in the overweight/obese group. In the logistic regression analyses, self-reported memory impairment and urinary frequency differences remained significant after adjusting for confounding variables. Conclusion. In this population of Puerto Ricans with FMS, overweight/obese patients experienced more FMS-related manifestations than nonoverweight/obese individuals. However, prospective studies are needed to confirm these associations and to elucidate if weight reduction interventions could favorably impact the severity of FMS. PMID:26885384

  20. [Affective respiratory and reflex paroxysms--evaluation of anamnestic data, clinical manifestations and therapy].

    Science.gov (United States)

    Lnĕnicková, D; Makovská, Z; Lnĕnicka, J

    1993-08-01

    The authors elaborated data, using the retrospective method, of a group of 146 patients with affective respiratory and reflex paroxysms. They focused attention on clinical manifestations of the disease, anamnestic data suggesting possible damage or immaturity of stem structures, the influence of heredity and the family environment. They found that in 63.7% the disease was manifested before the age of 1 year, most frequently at the age of 9-12 months. The cyanotic type of paroxysms was found in 67.5% of the patients, the pallid type in 21% and 3.5% of the patients suffered from both types of paroxysms. In 27.4% perinatal risks were recorded. The influence of a family-history was statistically significant in relation to the patient's age during the first attack: in patients with a positive family-history the mean age being by 1.8 months lower. 82.9% of the patients had a normal neurological finding, the EEG was evaluated as normal in 89.6% of 125 thus examined children. Psychological examinations made in 12 children revealed in all instances anomalies of personality with a predominance of lack of compliance and adaptability to the environment. Deterioration of the health status as a result of affective respiratory and reflex paroxysms was not recorded in any of the patients.

  1. Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management

    Directory of Open Access Journals (Sweden)

    Mantelli F

    2016-05-01

    Full Text Available Flavio Mantelli,1 Alice Bruscolini,2 Maurizio La Cava,2 Solmaz Abdolrahimzadeh,2 Alessandro Lambiase2 1Department of Biology, College of Science and Technology, Temple University, Philadelphia, PA, USA; 2Department of Sense Organs, Section of Ophthalmology, University of Rome “Sapienza”, Rome, Italy Abstract: Sturge–Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic vasculature distribution in this area, leads to several ocular complications of the anterior segment and can involve the eyelids and conjunctiva. The posterior segment of the eyes is also affected with diffuse choroidal hemangiomas. However, the most frequent ocular comorbidity is glaucoma with a prevalence rate ranging from 30%–70%. Glaucoma is related to anterior chamber malformations, high episcleral venous pressure (EVP, and changes in ocular hemodynamics. Glaucoma can be diagnosed at birth, but the disease can also develop during childhood and in adults. The management of glaucoma in Sturge–Weber syndrome patients is particularly challenging because of early onset, frequently associated severe visual field impairment at the time of diagnosis, and unresponsiveness to standard treatment. Several surgical approaches have been proposed, but long-term prognosis for both intraocular pressure control and visual function remains unsatisfactory in these patients. Choroidal hemangiomas may also lead to visual impairment thorough exudative retinal detachment and macular edema. Treatment of exudative hemangioma complications is aimed at destructing the tumor or decreasing tumor leakage. Keywords: Sturge–Weber syndrome, glaucoma, choroidal hemangiomas, port-wine stain, congenital disease, glaucoma surgery

  2. Analysis of risk factors and clinical manifestations associated with Clostridium difficile disease in Serbian hospitalized patients

    Directory of Open Access Journals (Sweden)

    Stojanović Predrag

    Full Text Available Abstract Clostridium difficile is the leading cause of infectious diarrhoea in hospitalized patients. The aim of this study was to determine the risk factors important for the development of hospital-acquired Clostridium difficile-associated disease and clinical manifestations of Clostridium difficile-associated disease. The clinical trial group included 37 hospitalized patients who were selected according to the inclusion criteria. A control group of 74 hospitalized patients was individually matched with cases based on hospital, age (within 4 years, sex and month of admission.Clostridium difficile-associated disease most commonly manifested as diarrhoea (56.76% and colitis (32%, while in 8.11% of patients, it was diagnosed as pseudomembranous colitis, and in one patient, it was diagnosed as fulminant colitis. Statistically significant associations (p < 0.05 were found with the presence of chronic renal failure, chronic obstructive pulmonary disease, cerebrovascular accident (stroke and haemodialysis. In this study, it was confirmed that all the groups of antibiotics, except for tetracycline and trimethoprim-sulfamethoxazole, were statistically significant risk factors for Clostridium difficile-associated disease (p < 0.05. However, it was difficult to determine the individual role of antibiotics in the development of Clostridium difficile-associated disease. Univariate logistic regression also found that applying antibiotic therapy, the duration of antibiotic therapy, administration of two or more antibiotics to treat infections, administering laxatives and the total number of days spent in the hospital significantly affected the onset of Clostridium difficile-associated disease (p < 0.05, and associations were confirmed using the multivariate model for the application of antibiotic therapy (p = 0.001, duration of antibiotic treatment (p = 0.01, use of laxatives (p = 0.01 and total number of days spent in the hospital (p = 0.001. In this study

  3. Scleromyxedema: clinical diagnosis and autopsy findings*

    Science.gov (United States)

    Sala, Ana Carolina Bulhões; Cunha, Paulo Rowilson; Pinto, Clóvis Antônio Lopes; Alves, Célia Antônia Xavier de Moraes; Paiva, Ingrid Barreto; Araujo, Ana Paula Vieira

    2016-01-01

    Scleromyxedema is a rare chronic cutaneous mucinosis of unknown etiology. It is characterized by papular eruption and scleroderma with microscopic evidence of mucin deposition, fibroblast proliferation, and fibrosis. Most patients with scleromyxedema have monoclonal gammopathy and systemic manifestations resulting in significant morbidity and mortality. Several types of treatment have been reported with partial or inconsistent responses. Despite showing unpredictable evolution, systemic consequences of scleromyxedema and treatment side effects may result in death. We describe a rare case of a patient with scleromyxedema without paraproteinemia with systemic involvement that evolved to death despite treatment with cyclophosphamide.

  4. The clinical diagnosis and treatment about 22 cases of limbic encephalitis were retrospectively analyzed.

    Science.gov (United States)

    Zang, Weiping; Zhang, Zhijun; Feng, Laihui; Zhang, Ailing

    2016-03-01

    To summarize and analyze the clinical characteristics and treatment of limbic encephalitis, in order to provide the basis for clinical work. We retrospectively analyzed the clinical characteristics, magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) and self immune antibody results of 22 patients with limbic encephalitis in Zheng zhou people's Hospital from March 2013 to May 2014. 22 cases of patients with psychiatric disturbance, such as hallucinations being typical clinical manifestations: Memory decline in 18 cases: Seizures in 13 patients: Altered level of consciousness in 10 cases; Movement disorders in 7 cases and 9 cases with febrile.14 cases have relieved after treating with antiviral and immunosuppressive therapy, 5 cases left memory decline, 2 patients left overwhelmingly excited, 1 cases of seizures. The clinical symptoms of patients with limbic encephalitis are complicated changeable and unspecific. so earlier diagnosis and treatment are very important for the prognosis of patients.

  5. Epidemiological characteristics and clinical manifestations of hepatitis E virus infection in Bulgaria: A report on 20 patients

    Directory of Open Access Journals (Sweden)

    Baymakova Magdalena

    2016-01-01

    Full Text Available Introduction. Hepatitis E is one of the leading clinical manifestations of acute viral hepatitis in developing countries. In industrialized countries, during the past several years, sporadic “autochthonous” cases of HEV infection have been increased. Objective. The aim of this study was to analyze the epidemiological, clinical and laboratory features of HEV infection among patients hospitalized at the Department of Infectious Diseases in Military Medical Academy, Sofia, Bulgaria. Methods. A retrospective study of 806 cases of acute viral hepatitis was performed at the Department of Infectious Diseases in Military Medical Academy, Sofia, Bulgaria, between December 2004 and September 2012. The etiological diagnosis was established by ELISA. The statistical analysis was performed using Excel 2007 (Microsoft, Redmond, Washington, USA and SPSS Statistics 19.0 (IBM Corp., Armonk, New York, USA. Results. Specific reaction to anti-HEV-IgM and anti-HEV-IgG antibodies were detected in 20 (2.48% of 806 patients. The most observed clinical presentations were jaundice (85%, fatigue (85%, anorexia (65%, abdominal discomfort (55% and fever (40%. The mean values of aspartate transaminase and alanine transaminase were 521 IU/l and 881 IU/l, respectively. The cholestasis was slight, marked with mean values of gamma-glutamyl transferase and alkaline phosphatase, respectively 418 IU/l and 486 IU/l. Conclusion. We report twenty autochthonous sporadic cases of acute infection with HEV. The zoonotic etiology of the virus as well as the foodborne transmission of the infection is discussed. We found that aging and pre-existing underlying diseases are risk factors for a severe course of the HEV infection.

  6. Gonorrhoea: auxotypes, serovars, and clinical manifestations among female sex workers from Kinshasa, Zaïre.

    Science.gov (United States)

    Mukenge-Tshibaka, L; Alary, M; Van Dyck, E; Laga, M; Nzila, N

    1997-01-01

    The main question in this paper was to look at the distribution of auxotypes and serovars of Neisseria gonorrhoeae and check whether they correlate with clinical symptoms/signs among female sex workers (FSW) from Kinshasa, Zaïre. The subject were 1233 FSW enrolled in a cross sectional study on STDs and HIV infection in 1988; 771 of them were followed prospectively for a median duration of 23 months. At each visit, clinical symptoms and signs of cervicitis were recorded and the subjects were screened for gonococcal and chlamydial infection. The pre-dominant auxotypes were prototrophic (35.2%), proline requiring (29.6%), and proline requiring phenylalanine inhibition (19%). Serovars 1A-6 (42.5%) and 1B-1 (16.7%) were the commonest. Infection with auxotype prototrophic and phenylalanine inhibition (Proto/Phenali) was significantly associated with both mucopurulent cervicitis and pelvic inflammatory disease; (OR = 8.9; p = 0.002 and OR =19 x9; p = 0.002; respectively). Despite the few associations found in this study, there was not clear pattern linking clinical manifestations to auxotype/serovar profiles. PMID:9582486

  7. Endodontic diagnosis: evaluation between clinical and histological findings

    Directory of Open Access Journals (Sweden)

    Paloma Souza Gonçalves

    2008-01-01

    Full Text Available Objective: In this study, the aim was to analyze the histologic alterations in thirty dental pulps and correlate them with the clinical findings to verify agreement between the clinical and histopathologic diagnosis and contribute to knowledge about endodontic diagnosis. Methods: Using the methodology of Oliveira4, the pulpal conditions were clinically classified as normal, reversible pulpitis, pulpitis at the stage of transition, irreversible pulpitis and necrosis. Results: Lack of correlation was observed between the clinical and histopathologic diagnoses in the cases classified as reversible and at the stage of transition, which histologically consisted of irreversible lesions or degenerative alterations. All the cases clinically classified as irreversible corresponded to the histologic diagnoses. Conclusion: It was concluded that the correlation between clinical and histopathologic diagnosis of dental pulp was shown to be controversial, even though the semiotechnique used had been imperative for guidance about the irreversibility of pulpal lesion.

  8. Clinical manifestations of cytomegalovirus-associated posterior uveitis and panuveitis in patients without human immunodeficiency virus infection

    NARCIS (Netherlands)

    K. Pathanapitoon (Kessara); N. Tesavibul (Nattaporn); P. Choopong (Pitipol); S. Boonsopon (Sutasinee); N. Kongyai (Natedao); S. Ausayakhun (Somsanguan); P. Kunavisarut (Paradee); A. Rothova (Aniki)

    2013-01-01

    textabstractImportance: Little attention has been paid to clinical features of cytomegalovirus (CMV) infections in individuals without human immunodeficiency virus (HIV). Objective: To describe the clinical manifestations and comorbidities of patients without HIV infection who have CMV-associated po

  9. Miscellaneous conditions of the shoulder: Anatomical, clinical, and pictorial review emphasizing potential pitfalls in imaging diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Farid, Nikdokht [University of California San Diego, Department of Radiology, 200 West Arbor Drive, San Diego, CA 92103 (United States); VA Healthcare System San Diego, Department of Radiology, 3350 La Jolla Village Drive, La Jolla, CA 92161 (United States); Bruce, Dean [University of California San Diego, Department of Radiology, 200 West Arbor Drive, San Diego, CA 92103 (United States); VA Healthcare System San Diego, Department of Radiology, 3350 La Jolla Village Drive, La Jolla, CA 92161 (United States); University of Alberta, Edmonton, Alberta (Canada); Chung, Christine B. [University of California San Diego, Department of Radiology, 200 West Arbor Drive, San Diego, CA 92103 (United States); VA Healthcare System San Diego, Department of Radiology, 3350 La Jolla Village Drive, La Jolla, CA 92161 (United States)], E-mail: cbchung@ucsd.edu

    2008-10-15

    The purpose of this article is to review the key imaging findings in major categories of pathology affecting the shoulder joint including hydroxyapatite deposition disease, rotator cuff interval pathology, acromioclavicular joint pathology, glenohumeral osteoarthrosis, and synovial inflammatory processes, with specific emphasis on findings that have associated pitfalls in imaging diagnosis. The pathophysiology and clinical manifestations of the above mentioned categories of pathology will be reviewed, followed in each section by a detailed pictorial review of the key imaging findings in each category including plain film, computed tomography, and magnetic resonance imaging findings as applicable. Imaging challenges that relate to both diagnosis and characterization will be addressed with each type of pathology. The goal is that after reading this article, the reader will be able to recognize the key imaging findings in major categories of pathology affecting the shoulder joint and will become familiar with the potential pitfalls in their imaging diagnosis.

  10. Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis.

    Science.gov (United States)

    Zhang, Ying-Shuang; Sun, A-Ping; Chen, Lu; Dong, Rong-Fang; Zhong, Yan-Feng; Zhang, Jun

    2015-01-01

    Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysiological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neuropathy (n = 6), perineuritis (n = 2), chronic inflammatory demyelinating polyradiculoneuropathy (n = 2) or Lewis-Sumner syndrome (n = 1) on the basis of clinical features, laboratory data, electrophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients (11/14). Nerve biopsy pathological diagnosis is crucial to the etiological diagnosis of multiple mononeuropathy.

  11. Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis

    Directory of Open Access Journals (Sweden)

    Ying-shuang Zhang

    2015-01-01

    Full Text Available Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysiological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neuropathy (n = 6, perineuritis (n = 2, chronic inflammatory demyelinating polyradiculoneuropathy (n = 2 or Lewis-Sumner syndrome (n = 1 on the basis of clinical features, laboratory data, electrophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients (11/14. Nerve biopsy pathological diagnosis is crucial to the etiological diagnosis of multiple mononeuropathy.

  12. Nerve biopsy ifndings contribute to diagnosis of multiple mononeuropathy:78% of ifndings support clinical diagnosis

    Institute of Scientific and Technical Information of China (English)

    Ying-shuang Zhang; A-ping Sun; Lu Chen; Rong-fang Dong; Yan-feng Zhong; Jun Zhang

    2015-01-01

    Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysi-ological and nerve biopsy ifndings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neurop-athy (n = 6), perineuritis (n = 2), chronic inlfammatory demyelinating polyradiculoneuropathy (n = 2) or Lewis-Sumner syndrome (n = 1) on the basis of clinical features, laboratory data, elec-trophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inlfamma-tory demyelinating polyradiculoneuropathy were not conifrmed by nerve biopsy. Nerve biopsies conifrmed clinical diagnosis in 78.6% of the patients (11/14). Nerve biopsy pathological diagno-sis is crucial to the etiological diagnosis of multiple mononeuropathy.

  13. Visual and Ocular Manifestations of Alzheimer’s Disease and their use as biomarkers for diagnosis and progression

    Directory of Open Access Journals (Sweden)

    Fatimah Zara Javaid

    2016-04-01

    Full Text Available Alzheimers disease (AD is the most common form of dementia affecting the growing ageing population today, with prevalence expected to rise over the next 35 years. Clinically, patients exhibit a progressive decline in cognition, memory and social functioning due to deposition of amyloid β (Aβ protein and intracellular hyperphosphorylated tau protein. These pathological hallmarks of AD are visualised either through neuroimaging, CSF analysis or diagnosed post-mortem. Importantly, neuropathological progression occurs in the eye as well as the brain, and multiple visual changes have been noted in both human and animal models of AD. The eye offers itself as a transparent medium to cerebral pathology and has thus potentiated the development of ocular biomarkers for AD. The use of non-invasive screening such as retinal imaging and visual testing may enable earlier diagnosis in the clinical setting, minimizing invasive and expensive investigations. It also potentially improves disease management and quality of life for AD patients, as an earlier diagnosis allows initiation of medication and treatment. In this review, we explore the evidence surrounding ocular changes in AD and consider the biomarkers currently in development for early diagnosis.

  14. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis

    Institute of Scientific and Technical Information of China (English)

    LI Hui; WEI Jun; MA Ying; SHANG Tao

    2005-01-01

    Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neconatal echocardiography was performed to check the accuracy of prenatal diagnosis. Results: (1) Forty-six cases(4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Fotry-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. Conclusions: (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart

  15. The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism.

    Science.gov (United States)

    Wu, Qinghua; Wang, Cong; Shi, Huirong; Kong, Xiangdong; Ren, Shumin; Jiang, Miao

    2017-02-18

    45,X/46,XY mosaicism is a rare chromosomal abnormality and probably underdiagnosed. Although clinical and genetic analyses have been performed in some disorders of sexual development, there have been few studies focusing on the phenotype and genetic details of 45,X/46,XY mosaicism, especially in the Chinese population. The aim of this study was to describe the experience of our service in relation to 16 cases with 45,X/46,XY mosaicism. The age at the first evaluation of the patients ranged from 43 days to 30 years. Eight patients were reared as female and 8 as male. The main reasons for examination were primary amenorrhea, sterility, or ambiguous genitalia. Short stature was more common in female than in male patients. Two patients accepted gonadectomy due to tumor risk and none presented gonadal malignancy. The SRY gene was amplified positively in all of the patients. AZF gene microdeletions were present in 6 of 8 male patients, and all adult male patients had no sperm. No correlation has been found between clinical manifestations and the proportion of mosaic cells in peripheral blood. Our observations may permit a better management of people with 45,X/46,XY mosaicism.

  16. CD57 Expression in Incidental, Clinically Manifest, and Metastatic Carcinoma of the Prostate

    Directory of Open Access Journals (Sweden)

    Holger Wangerin

    2014-01-01

    Full Text Available Objectives. CD57 is normally found on NK-cells, but little is known about its expression in prostatic tissue. Methods. We investigated CD57 expression by immunohistochemistry using tissue microarrays containing 3262 prostate cancers (PCa, lymph node metastases, and benign prostatic tissue. The results were compared with clinical and pathological parameters. Results. Overall, 87% of PCa showed a moderate or strong expression of CD57. There was no significant difference to corresponding benign prostatic tissue. CD57 was increasingly lost from incidental over clinically manifest cancers to metastases. It correlated significantly with Gleason grade and pT-category, but not with PSA tissue expression. Loss of CD57 expression was an independent risk factor for PSA recurrence after prostatectomy in a multivariate Cox regression analysis. In standard sections, CD57 expression was heterogeneous, especially in large, high-grade PCa. Conclusions. There is a peculiar expression of CD57 in PCa and benign prostatic tissue. CD57 loss is associated with tumor dedifferentiation and tumor size. However, the use of this marker for prognostic purposes is hampered by its heterogeneous expression.

  17. Ocular manifestations of leptospirosis

    Directory of Open Access Journals (Sweden)

    Rathinam S

    2005-01-01

    Full Text Available Leptospiral uveitis is a common entity in tropical countries. Ocular manifestations are noted in the second phase of illness, but these remain under-diagnosed mainly because of the prolonged symptom-free period that separates the systemic manifestations from detection of ocular manifestations.Varying ophthalmic presentations and the intrinsic nature of different types of uveitis to mimic one another also challenge the accuracy of the diagnosis. Of the individual ocular signs, the combination of acute, non-granulomatous, panuveitis, hypopyon, vasculitis, optic disc edema, membranous vitreous opacities and absence of choroiditis or retinitis have high predictive value for the clinical diagnosis of leptospiral uveitis. Geographic location of the patient, occupation, socio-economic status, risk factors related to exposure, past history of fever or jaundice also aid in diagnosis.Steroids are the mainstay of treatment for leptospiral uveitis. Depending upon the severity and anatomical location of inflammatory lesion, topical, peri-ocular and/or systemic steroids are given. The prognosis is generally good, even when the inflammation is severe.

  18. Granulomatous Amoebic Encephalitis: Clinical Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    Naveed A. Khan

    2005-01-01

    Full Text Available Granulomatous amoebic encephalitis (GAE is a serious human disease with fatal consequences. With the mortality rate of more than 90%, it is not surprising that the majority of GAE infections are identified at the post-mortem stage. The most distressing aspect is that the high level of mortality is attributed to lack of awareness. Early diagnosis with aggressive treatment can lead to successful prognosis for the patient. Here, we describe a brief overview of the current understanding of the pathophysiology of GAE, available diagnostic methods, possible therapeutic interventions and the causative agents.

  19. Clinical manifestations, electrophysiology, pathology and gene diagnosis in a Chinese family of endplate acetylcholinesterase deficient congenital myasthenic syndrome%终板胆碱酯酶缺失型先天性肌无力综合征一家系的临床、电生理、肌肉病理和基因研究

    Institute of Scientific and Technical Information of China (English)

    戴毅; 丁青云; 何腾龙; 赵燕环; 任海涛; 管宇宙; 陈琳; 崔丽英

    2016-01-01

    Objective To report the clinical presentations,lab tests,electrophysiological studies,muscle biopsy and the genetic investigation of the endplate acetylcholinesterase deficient congenital myasthenic syndrome (CMS).Methods The proband,a 15 years old girl,presented ptosis,exerciseintolerant and delayed motor developmental milestones from birth.The disease progressed slowly.After 12 years old,the girl showed limited eye movements,decreased ventilation and scoliosis.Her elder sister had the same symptoms and died of severe respiratory infection when she was one year old.Profound blood tests,electrophysiological studies,muscle biopsy,next generation sequencing and pedigree validation were performed on the proband.Results The electrophysiological studies showed repeated compound muscle action potential in response to single nerve stimulus,decremental response following 3-5 Hz repetitive nerve stimulation and rapid decrement-slight increment-decrement-stable response course following 10-50 Hz repetitive nerve stimulation.Electromyography (EMG) showed slight myogenic changes.Single fiber-EMG disclosed increased jitter.The muscle biopsy indicated unspecific myopathic changes.DNA analysis revealed a compound heterozygous mutations,c.1082delC and c.1190G > A,in COLQ gene.The pedigree tests validated the mutations were inherited from father and mother separately.Conclusions The COLQ-mutant endplate acetylcholinesterase deficient CMS has distinctive electrophysiological features,which is the hint for diagnosis.Treatment with ephedrine is recommended to this type of CMS.%目的 分析终板胆碱酯酶缺失型先天性肌无力综合征家系的临床、电生理、肌肉病理和基因特点.方法 先证者为15岁女性,出生即发现眼睑下垂、运动易疲劳、生长发育迟滞,病情缓慢进展,青少年期出现眼球活动受限、呼吸功能下降和脊柱侧弯.有一姐有类似表现,1岁时因肺部感染夭折.对先证者进行全面血液检测、电

  20. Nipple eczema, an indicative manifestation of atopic dermatitis? A clinical, histological, and immunohistochemical study.

    Science.gov (United States)

    Song, Hyo Sang; Jung, Soo-Eun; Kim, You Chan; Lee, Eun-So

    2015-04-01

    Nipple eczema exhibits as a minor manifestation of atopic dermatitis (AD) or occurs as a single skin symptom on the nipple. To characterize the relationship between nipple eczema and AD, a clinical evaluation and an immunohistochemical study were performed. All cases of nipple eczema were confirmed histopathologically. We divided the patients with nipple eczema into 2 groups, namely, those with AD and those without AD, and compared several clinical features. Upon histological examination, the degree of inflammation was subjectively graded as mild, moderate, or severe by 2 separate investigators. Immunohistochemical stainings were performed by using antiinterleukin (IL)-4, anti-IL-13, anti-CD4, and anti-CD8 antibodies, and the results were scored semiquantitatively. In 43 cases evaluated, 12 were nipple eczema with AD. The clinical analysis and histological examination showed no significant differences between the groups. There were consistent findings of IL-4 expressions throughout the epidermis and IL-13 expression mainly in the perivascular area of the dermis. Although CD4 and CD8 were expressed in the cells in the dermis, CD8 expression was detected in the serocrusts of the epidermis. Expression levels of IL-4, IL-13, CD4, and CD8 exhibited no significant differences between the nipple eczema group with AD and the nipple eczema group without AD. Although nipple eczema may accompany AD, we found no definite differences in the degree or pattern of inflammation and cytokine expression level regardless of whether AD was present or not. Serocrust formation seemed to be mainly a collection of CD8-positive cells.

  1. [Clinical importance and diagnosis of halitosis].

    Science.gov (United States)

    Akos, Nagy; Zsolt, Brugoviczky; Péter, Novák; Gábor, Nagy

    2012-09-01

    The origin of halitosis comes from the Latin word "halitus" meaning 'breath, exhaled air', and in the Hungarian terminology it means bad and smelly breath. The human body emits a number of volatile molecules, which have a peculiar odour. Their presence is influenced by several factors, such as genetic, nutritional and psychological factors. Since bad breath belongs to taboo subjects, halitosis can often lead to social isolation. To determine the incidence of halitosis, an exact diagnosis is needed which sometimes predestinates the possible treatment as well. Investigators estimate the incidence about 50% in the whole population. The male/female ratio is the same and the incidence is growing with age. The diagnosis can be genuine halitosis, pseudo halitosis and halitophobia. We can divide the genuine type into physiological and pathophysiological subtypes. The cause of the halitosis usually can be found in the oral cavity. The volatile sulfur compounds (VSC) produced by some of the oral bacteria are responsible for its development. Only 10% of the causes are extraoral, mostly inflammation of airways or gastrointestinal disorders. The judgment of halitosis is based on three objective methods: the organoleptic, the sulphide monitoring and the gas cromatography methods. Since the origin of the halitosis is mainly the oral cavity, dentists should treat them. Beyond the dental treatments the enhancement of the oral hygiene, the continuous motivation and monitoring are also very important, such as the use of tongue cleansing and special anti-malodour rinses.

  2. Etiology, diagnosis, and clinical management of vulvodynia

    Directory of Open Access Journals (Sweden)

    Sadownik LA

    2014-05-01

    Full Text Available Leslie A Sadownik University of British Columbia, Department of Obstetrics and Gynecology, Vancouver, BC, Canada Abstract: Chronic vulvar pain or discomfort for which no obvious etiology can be found, ie, vulvodynia, can affect up to 16% of women. It may affect girls and women across all age groups and ethnicities. Vulvodynia is a significant burden to society, the health care system, the affected woman, and her intimate partner. The etiology is multifactorial and may involve local injury or inflammation, and peripheral and or central sensitization of the nervous system. An approach to the diagnosis and management of a woman presenting with chronic vulvar pain should address the biological, psychological, and social/interpersonal factors that contribute to her illness. The gynecologist has a key role in excluding other causes for vulvar pain, screening for psychosexual and pelvic floor dysfunction, and collaborating with other health care providers to manage a woman's pain. An important component of treatment is patient education regarding the pathogenesis of the pain and the negative impact of experiencing pain on a woman's overall quality of life. An individualized, holistic, and often multidisciplinary approach is needed to effectively manage the woman's pain and pain-related distress. Keywords: vulvodynia, diagnosis, treatment, etiology, sexual pain disorder, dyspareunia, vestibulodynia, assessment, treatment, multidisciplinary

  3. Factor V leiden mutation in Behcet’s disease and the relationship with clinical manifestations

    Directory of Open Access Journals (Sweden)

    Mowla K

    2010-05-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Behcet's disease (BD is a multisystemic inflammatory disease with unknown origin characterized by recurrent oral aphtous ulcers, genital, ocular and skin lesions. A single point mutation 1691G to A in the factor V gene increases the risk of venous thrombosis. This study designed to determine factor V Leiden mutation in Behcet's disease, and to find out it's relationship with the clinical manifestations in Khuzestan province, Iran. "n"nMethods: One hundred patients with Behcet's Disease (44 males and 56 females based on international diagnostic criteria and 70 healthy subjects were included in the study. Patients and controls were tested for the presence of factor V Leiden mutation using polymerase chain reaction method."n"nResults: The prevalence of factor V Leiden mutation was significantly higher in BD (10 out of 100, 10% compared with healthy control subjects (1 out of 70, 1.4%, (p=0.025. Vascular lesions in this study were deep vein thrombosis (DVT (7%, subcutaneous thrombophlebitis (5%, stroke (1% and retinal vasculitis (39%. It was found that there was no association between venous thrombosis and the factor V Leiden mutation in Khuzestanian patients. Also, no association between

  4. Accuracy of the clinical diagnosis of recessive X-linked ichthyosis vs ichthyosis vulgaris.

    Science.gov (United States)

    Cuevas-Covarrubias, S A; Kofman-Alfaro, S H; Palencia, A B; Díaz-Zagoya, J C

    1996-09-01

    The present study analyzes the accuracy of the clinical diagnosis of X-linked ichthyosis (XLI) vs ichthyosis vulgaris (IV), in a sample of Mexican patients. The study was double blind, using steroid sulfatase (STS) activity as the golden standard. Twenty male patients were included; 16 corresponded to XLI and 4 to IV. The clinical diagnosis was correct in 9 of the 16 XLI cases (56%) and in 2 of the 4 IV cases (50%). Some clinical findings in XLI, such as cryptorchidism in patients and delayed labor in their mothers, were important features for diagnosis. Statistical analysis of the results showed: among physicians (n = 2) Kappa value 0.50, specific concordance 0.40, and absolute concordance 0.75; other values were sensibility 0.56, specificity 0.50, positive predictive value 0.82, negative predictive value 0.22, accuracy 0.55, prevalence 0.80. In conclusion, the differential diagnosis of XLI and IV is very difficult, and we consider that this is not explained either by personal skills or by other conditions. It could be attributed to the similarities in skin manifestations of these two diseases. The performance of the STS assay is imperative in order to correctly diagnose the disease and offer adequate genetic counseling.

  5. Correlation between extraintestinal manifestations and clinical parameters with the histologic activity index in patients with inflammatory bowel diseases

    Directory of Open Access Journals (Sweden)

    Štulić Miloš

    2013-01-01

    Full Text Available Bacground/Aim. Crohn's disease (CD and ulcerative colitis (UC are chronic, idiopathic, inflammatory diseases of the digestive tract. The aim of this study was to determine a possible correlation between the clinical parameters of the disease activity degree and the presence of extraintestinal manifestations with disease activity histopathological degree, in patients presented with CD and UC. Methods. This cross-sectional study included 134 patients (67 with CD and UC, respectively treated at the Clinic of Gastroenterology, Clinical Center of Serbia, Belgrade. After clinical, laboratory, endoscopic, histopathologic and radiologic diagnostics, the patients were divided into two groups according to their histopathological activity. The group I comprised 79 patients whose values of five-grade histopathological activity were less than 5 (45 with CD and 34 with UC, while the group II consisted of 55 patients with the values higher than 5 (22 with CD and 33 with UC. The CD activity index (CDAI and Truelove and Witts' scale of UC were used for clinical evaluation of the disease activity. Results. CD extraintestinal manifestations were present in 28.9% and 63.6% of the patients in the groups I and II, respectively (p 0.05. Conclusion. In the patients presented with CD, the extraintestinal manifestations with higher CDAI suggested a higher degree of histopathological activity. On the contrary, in the UC patients, Truelove and Witts' scale and extraintestinal manifestations were not valid predictors of the disease histopathological activity.

  6. Emphysematous pyelonephritis. Clinical findings and radiological diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Tomiie, Fumitaka; Okuyama, Chio; Kizu, Osamu [Kyoto Prefectural Univ. of Medicine (Japan)] [and others

    1996-01-01

    Emphysematous pyelonephritis is a rare, life-threatening necrotizing renal infection characterized by the production of intrarenal and perirenal gas. Seven patients with emphysematous pyelonephritis were reviewed. Six patients were associated with diabetes mellitus and one with obstructive nephrouropathy. Bilateral emphysematous involvement was seen in two and unilateral involvement in five patients. Bilateral disease was accompanied by thoracic lesions such as mediastinitis and/or pleuritis. In two of three patients with medical management alone, multiple organ failure secondary to sepsis was a cause of death. CT provided information indispensable to a correct diagnosis and was useful in evaluating the extension of the disease process. In patients with bilateral disease or unilateral involvement with a prolonged history, CT scan of the thorax is recommended for the survey of mediastinal and/or pleural involvement. (author).

  7. Lactose intolerance: diagnosis, genetic, and clinical factors

    Directory of Open Access Journals (Sweden)

    Mattar R

    2012-07-01

    Full Text Available Rejane Mattar, Daniel Ferraz de Campos Mazo, Flair José CarrilhoDepartment of Gastroenterology, University of São Paulo School of Medicine, São Paulo, BrazilAbstract: Most people are born with the ability to digest lactose, the major carbohydrate in milk and the main source of nutrition until weaning. Approximately 75% of the world's population loses this ability at some point, while others can digest lactose into adulthood. This review discusses the lactase-persistence alleles that have arisen in different populations around the world, diagnosis of lactose intolerance, and its symptomatology and management.Keywords: hypolactasia, lactase persistence, lactase non-persistence, lactose, LCT gene, MCM6 gene

  8. The Clinical Manifestations, Treatment Efficacy and Adverse Drug Reactions in 62 Iranian Child with Wilson Disease

    Directory of Open Access Journals (Sweden)

    Mehri Najafi

    2014-09-01

    Full Text Available Introduction: The Wilson disease is an autosomal recessive disease in which the liver, central nervous system, eyes, blood and other parts of the body involved. Timely diagnosis and appropriate treatment of the disease requires awareness of the clinical presentations of this disease in children.Methods: This case series study included 62 patients with Wilson disease who admitted to children's Medical Center in the years 2012-2003.Results: 56% of patients were male. The average age of diagnosis was 9.73 years old (5-17 years and this was higher in patients with early neurologic symptoms (P = 0.85.( 64.5% of the patients had the hepatic symptoms at the time of diagnosis and the most common type of hepatic involvement was cirrhosis (39.3% and hepatitis (17.5% respectively. 17.7% of the patients also had early neurological symptoms. A positive family history for the Wilson Disease were found in 27.4% of patients. 74.2% of patients had KF ring and the frequency of these symptom was higher in patients with early neurological involvement. 83.9% of patients were treated successfully with D-penicillamine and In 30% of patients, adverse drug reactions were seen.Conclusion: Children with unknown liver disease should be evaluated for Wilson disease and the first-degree relatives of patients should be screened. . D-penicillamine have important side effects, but due to the low cost and the availability is an appropriate drug to treat the Wilson disease..Key words: Wilson Disease, Hepatic Involvement, Neurologic Involvement , KF ring ,D-Penicillamine.

  9. Modular sensor architecture for unobtrusive routine clinical diagnosis

    OpenAIRE

    Storz, Oliver; Friday, Adrian; Crowe, J; Hayes-Gill, B; Sumner, M.; Barratt, C; Palethorpe, B.; Greenhalgh, C.; Humble, Jan; Setchell, Chris; Randell, Cliff; Muller, Henk; EPSRC

    2004-01-01

    Clinical diagnosis of pathological conditions is accomplished regularly via the recording and subsequent analysis of a physiological variable from a subject. Problems with current common practice centre around the obtrusive and rigid nature of this process. These include the length, timing and location of the diagnostic recording session, transfer of data to clinical staff, liaison between clinical staff and subjects and the integration of such diagnostic check-ups into the overall health car...

  10. Clinical and Associated Immunological Manifestations of HFMD Caused by Different Viral Infections in Children

    Science.gov (United States)

    Wang, Jingjing; Pu, Jing; Liu, Longding; Che, Yanchun; Liao, Yun; Wang, Lichun; Guo, Lei; Feng, Min; Liang, Yan; Fan, Shengtao; Cai, Lukui; Zhang, Ying; Li, Qihan

    2016-01-01

    Hand, foot, and mouth disease (HFMD), with vesiculae on the hands, feet and mouth, is an infectious disease caused by many viral pathogens. However, the differences of immune response induced by these pathogens are unclear. We compared the clinical manifestations and the levels of immunologic indicators from 60 HFMD patients caused by different viral pathogens to analyze the differences in the immune response. It was shown that Th2 cytokines (IL-4 and IL-10) increased significantly in EV71-infected children; Th1 cytokines (IL-2 and IFN-γ) rose in CA16-infected children; both Th1 and Th2 cytokines elevated in non-EVG-infected children; only individual cytokines (such as IL-10) went up in EVG-infected children. Meanwhile, the antibodies induced by viral infection could not cross-interfere between the different pathogens. These differences might be due to variations in the immune response induced by the individual pathogens or to the pathogenesis of the infections by the individual pathogens. PMID:27336013

  11. Clinical and Associated Immunological Manifestations of HFMD Caused by Different Viral Infections in Children

    Directory of Open Access Journals (Sweden)

    Jingjing Wang MS

    2016-05-01

    Full Text Available Hand, foot, and mouth disease (HFMD, with vesiculae on the hands, feet and mouth, is an infectious disease caused by many viral pathogens. However, the differences of immune response induced by these pathogens are unclear. We compared the clinical manifestations and the levels of immunologic indicators from 60 HFMD patients caused by different viral pathogens to analyze the differences in the immune response. It was shown that Th2 cytokines (IL-4 and IL-10 increased significantly in EV71-infected children; Th1 cytokines (IL-2 and IFN-γ rose in CA16-infected children; both Th1 and Th2 cytokines elevated in non-EVG-infected children; only individual cytokines (such as IL-10 went up in EVG-infected children. Meanwhile, the antibodies induced by viral infection could not cross-interfere between the different pathogens. These differences might be due to variations in the immune response induced by the individual pathogens or to the pathogenesis of the infections by the individual pathogens.

  12. Severe cutaneous adverse drug reactions:a review on epidemiology,etiology,clinical manifestation and pathogenesis

    Institute of Scientific and Technical Information of China (English)

    Tomy Martin; LI Hui

    2008-01-01

    Purpose To review the current progress in epidemiology, etiology, clinical manifestation, and pathophysiology of severe cutaneous adverse drug reactions(SCADRs). Data sources Data were acquired by using Blackwell-Synergy, PubMed, original articles published in the main Chinese journals and related medical textbooks materials. Study-selection and date extraction Throughout the literature review 49 articles were selected. Results SCADRs cases are rare, however, the implication is life threatening with significant mortatity rates. Epidemiology studies have shown various incidences from different regions, gender, age, race and concurrent illness. There are typical signs and symptoms for each type of SCADRs, but this is not always so. Drugs associated with inducing SCADRs are anticonvulsants, antibiotics, NSAIDs and antirheumatic drugs. In some countries, especially in Asia, traditional drugs are offen the cause of SCADRs. Genetic polymorphisms and viral infections are predisposition factors of SCADRs. Patients with certain genetic alleles and underlying diseases are vulnerable to SCADRs. The exact pathogenesis of SCADRs is not well defined. Nonetheless, recent study showed that reactive metabolites and immunological processes have a significant role in SCADRs. Conclusions The different SCADRs reactions are attributed by different intrinsic factors, such as genetic polymorphisms, gender, age and race as well as extrinsic factors, such as underlying diseases. Different regions and culprit drugs also play a role in the various types of SCADRs.

  13. A case of symptomatic cervical perineural (Tarlov) cyst: clinical manifestation and management.

    Science.gov (United States)

    Kim, Keewon; Chun, Se Woong; Chung, Sun G

    2012-01-01

    Perineural (Tarlov) cysts are most often found in the sacral region and are rare in the cervical spine. Although they are usually asymptomatic, a small number of those at the lumbosacral level have been known to produce localized or radicular pain. Few reports are available on symptomatic perineural cysts in the cervical spine and it has not been discussed how they should be managed. We present here a case of cervical perineural cysts with persistent radicular pain where the pain was adequately managed with repetitive transforaminal epidural steroid injection (TFESI). The patient had experienced intractable pain in the posterior neck and left upper extremity for more than 7 years. The nature of the pain was cramping and a tingling sensation, which was aggravated in the supine position. Magnetic resonance imaging revealed a perineural cyst in the neural foramen of left C7 root. The patient underwent three repetitive TFESIs targeted at the root. Each injection provided incremental relief, which lasted more than 6 months. Follow-up image revealed shrinkage of the cyst. This case illustrates in detail the clinical manifestation of a rare symptomatic perineural cyst in the cervical region and to our knowledge is the first to report the beneficial effect of repetitive TFESI.

  14. Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta: Case report.

    Science.gov (United States)

    Abukabbos, Halima; Al-Sineedi, Faisal

    2013-10-01

    Dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta (OI) is a genetic disorder that affects the connective tissues and results in dentine dysplasia. This case report discusses the systemic and dental manifestations of OI and DI in a 4-year-old child, with moderate presentation of both disorders, who was treated at King Fahd Military Medical Complex in Dhahran. Dental treatment included the use of strip and stainless-steel crowns under local anesthesia, as well as behavior modification techniques. Rigorous home care instructions, including reinforcement of the oral hygiene practice and avoidance of any episode that may lead to bone fracture, were discussed with the parents. The case was reevaluated at 3-month follow-up visits, wherein the medical and dental histories were updated, the child's growth was monitored, periodic clinical and radiographic examinations were performed, and the oral hygiene was evaluated via the debris index score and caries risk assessment. Further treatment of the permanent dentition may be needed in the future.

  15. Influence of weight loss on the clinical manifestations of osteoarthritis of the knee-joints.

    Directory of Open Access Journals (Sweden)

    Inna Vladimirovna Solov'eva

    2014-10-01

    Full Text Available Obesity consistently associated with the development of a number of chronic diseases, leading to a decrease in quality of life, disability and death. The article examines the connection between obesity and disease of the musculoskeletal system, describes the mechanisms by means of which obesity leads to the development of osteoarthritis. It is evident that reduction of body mass can slow the progression of osteoporosis. The own experience of non-pharmacological and pharmacological treatment of obesity with the use of orlistat in 50 obese patients with osteoarthritis of the knee II–III stage is presented. Treatment has resulted in a decrease in body weight, waist circumference, accompanied by a decrease in symptoms osteoarthritis among all the patients. Our results showed that the addition of orlistat to standard osteoarthritis scheme leads to significant reduction in weight and reduction of clinical manifestations of osteoarthritis. According to the above, the drugs that have impact on weight loss, should be included in the treatment regimen of patients with osteoarthritis and obesity.

  16. Portal hypertension: an uncommon clinical manifestation of Takayasu arteritis in a 9-year-old child

    Science.gov (United States)

    Herrera, Cristina N; Tomala-Haz, Javier E

    2016-01-01

    Takayasu arteritis (TA) is the third most common childhood vasculitis and its clinical manifestations depend on the arteries involved. We report a case of a 9-year-old boy with multiple aneurysms in carotid and iliac arteries, subclavian and coronary arteries, and abdominal aorta. At the age of 7 years, he presented with recurrent fever and hepatosplenomegaly. An angio-computed tomography scan showed aneurysms in the left subclavian artery, abdominal aorta, and both proximal iliac arteries. He was diagnosed with TA and was treated with corticosteroids, aspirin, and enalapril. One year later, he was admitted to Dr Roberto Gilbert Children’s Hospital because of intracranial hemorrhage. Angiography revealed enlargement of aneurysms enlargement and new aneurysms. He also developed portal hypertension. Treatment with intravenous corticosteroids, azathioprine, and monthly intravenous cyclophosphamide was begun. After 6 months of no improvement, infliximab was begun. The aim of this article was to report the concurrence of coronary involvement and portal vein hypertension in pediatric TA because there were scarce reports on this matter. PMID:27895519

  17. Infant Hip Joint Diagnostic Support System Based on Clinical Manifestations in X-ray Images

    Directory of Open Access Journals (Sweden)

    Honda,Mitsugi

    2010-06-01

    Full Text Available Plain X-ray radiography is frequently used for the diagnosis of developmental dislocation of the hip (DDH. The aim of this study was to construct a diagnostic support system for DDH based on clinical findings obtained from the X-ray images of 154 female infants with confirmed diagnoses made by orthopedists. The data for these subjects were divided into 2 groups. The Min-Max method of nonlinear analysis was applied to the data from Group 1 to construct the diagnostic support system based on the measurement of 4 items in X-ray images:the outward displacement rate, upward displacement rate, OE angle, and alpha angle. This system was then applied to the data from Group 2, and the results were compared between the 2 groups to verify the reliability of the system. We obtained good results that matched the confirmed diagnoses of orthopedists with an accuracy of 85.9%.

  18. Triple manifestation of extramedullary plasmacytoma in the upper airway: an unusual clinical entity.

    LENUS (Irish Health Repository)

    Morariu, I

    2012-02-01

    OBJECTIVE: We report an extremely rare case of extramedullary plasmacytoma. METHOD: Case report and review of the English-literature concerning extramedullary plasmacytoma and multiple myeloma. RESULT: We present an unusual case of multiple extramedullary plasmacytomas, which, over a protracted course of 30 years, presented on different occasions at three separate sites in the head and neck. The patient was managed surgically on all occasions, and was disease-free at the time of writing. CONCLUSION: Following review of the literature, we believe this to be the only case with this extremely unusual presentation. This case is noteworthy, not only because of the rarity of extramedullary plasmacytoma, but also because it highlights a number of important clinical issues. The diagnosis and management of extramedullary plasmacytoma require close cooperation between multiple disciplines.

  19. Eosinophilic granuloma of the temporal bone- its clinical manifestations and management

    Directory of Open Access Journals (Sweden)

    Kirtane Jyotsna

    1978-01-01

    Full Text Available Eosinophilic granuloma is a variety of Histiocytosis-X. Its etio-logy is unknown. When it involves the temporal bone it may mimic chronic otitis media, or a mastoid abscess, very often leading to an erroneous diagnosis. Its X-ray appearance and histopathology are characteristic. Infiltration with eosinophils and histiocytes is a constant feature. Very good results are achieved with surgery accompanied by radiotherapy. In this series of 3 patients, one pa-tient presented with facial paralysis and another one with bilateral post-auricular swellings. The first 2 cases were diagnosed only after surgery and histopathological examination of the tissue removed, while the third case was diagnosed pre-operatively on clinical and radiological findings.

  20. [Cardiovascular manifestations of human toxocariasis].

    Science.gov (United States)

    Bolívar-Mejía, Adrián; Rodríguez-Morales, Alfonso J; Paniz-Mondolfi, Alberto E; Delgado, Olinda

    2013-01-01

    Toxocariasis is a parasitic infection produced by helminths that cannot reach their adult stage in humans. For their etiological species (Toxocara canis and Toxocara cati), man is a paratenic host. Infection by such helminths can produce a variety of clinical manifestations, such as: visceral larvae migrans syndrome, ocular larvae migrans syndrome and covert toxocariasis. In the visceral larvae migrans syndrome, the organs that are mainly involved include liver, lungs, skin, nervous system, muscles, kidneys and the heart. Regarding the latter, the importance of cardiovascular manifestations in toxocariasis, as well as its clinical relevance, has increasingly begun to be recognized. The current article is based on a systematic information search, focused mainly on the clinical and pathological aspects of cardiovascular manifestations in toxocariasis, including its pathophysiology, laboratory findings, diagnosis and therapeutical options, with the objective of highlighting its importance as a zoonosis and its relevance to the fields of cardiovascular medicine in adults and children.

  1. The Relation between Diverse Phenotypes of PCOS with Clinical Manifestations, Anthropometric Indices and Metabolic Characteristics.

    Science.gov (United States)

    Shahrami, Seyedeh Hajar; Abbasi Ranjbar, Zahra; Milani, Forozan; Kezem-Nejad, Ehsan; Hassanzadeh Rad, Afagh; Dalil Heirat, Seyedeh Fatemeh

    2016-02-01

    Critical issue regarding to variation of findings based on different phenotypes led investigators to define whether they are distinct features or overlapping ones. Therefore, we aimed to investigate the association between diverse phenotypes of PCOS (Poly Cystic Ovary Syndrome) with clinical manifestations, anthropometric indices, and metabolic characteristics. This was a descriptive cross-sectional study conducted in 15-39 years old women with PCOS referred to infertility clinics in the north part of Iran, Rasht during 2010-2011. Data were gathered through an interview by a form consisted of demographic characteristics, laboratory findings, ovarian volume and anthropometric indices. A total of 214 patients consisted of 161 PCOS (cases) and 53 normal women (controls) participated in this study. The most prevalent phenotype in PCOS population was IM/PCO/HA (54%), followed by IM/HA (28%) and IM/PCO (13%). PCO/HA was present only in 6 PCOS patients (5%). PCOS patients were significantly younger than controls (P=0.07). Results showed that increased ovarian volume were higher in PCOS group in comparison with controls and IM/PCO/HA, and IM/PCO had respectively the largest ovarian volumes. Also, a significant relation was observed based on Cholesterol, 17OHP, LH, TG, 2hpp, and LH/FSH between patients with PCOS and control groups. There were significant differences in demographic, anthropometric, hormonal and ultrasound findings between PCOS and controls. Therefore, it seems that classification of the characteristics of each phenotype could offer an appropriate guide for screening risks of PCOS and may facilitate performing most favorable treatment for these complications.

  2. Clinical and neuroradiological manifestations of reversible splenial lesion syndrome: a report of 13 cases

    Directory of Open Access Journals (Sweden)

    Li WANG

    2016-10-01

    Full Text Available Objective  To summarize the clinical and MRI imaging features, treatment and prognosis of reversible splenial lesion syndrome (RESLES. Methods  The clinical manifestation and MRI imaging appearances of 13 RESLES patients were retrospectively evaluated and the pertinent literatures of RESLES were reviewed. Results  Of the 13 cases (11 males and 2 female, aged from 13 to 58 years, 1 was complicated with spontaneous intracranial hypotension syndrome, 1 with epidemic hemorrhagic fever, 1 with antiepileptic drug withdraw, 1 with pituitary crisis combining Sjogren syndrome, 1 with still disease, and 8 cases were complicated with viral encephalitis (meningoencephalitis. The first MRI imaging was performed from 2 to 39 days after onset. All the lesions were measured about 1-2cm, located in the central area and involved no other part of corpus callosum. They were characterized by high signal intensity on FLAIR and T2 sequences, with mild signal reduction on T1 sequence, and hyperintensity on DWI with low apparent diffusion coefficient (ADC values. The lesions formed as ovoid and boomerang. Following intravenous injection of contrast medium in 3 cases, no enhancement was found in the splenial lesions. All the patients completely recovered or obviously improved after appropriate treatments. The splenial lesions disappeared or obviously weakened on the follow-up MRI imaging, ranging from 6 to 30 days after first MRI imaging. Conclusions  RESLES is characterized by the MRI finding as a reversible lesion with transiently reduced diffusion in the splenium of corpus callosum. Symptoms of RESLES are various, the outcome is favorable in most cases, and the etiology and pathogenesis of RESLES are still unclear. DOI: 10.11855/j.issn.0577-7402.2016.10.09

  3. Clostridium difficile: clinical disease and diagnosis.

    OpenAIRE

    Knoop, F C; Owens, M.; Crocker, I C

    1993-01-01

    Clostridium difficile is an opportunistic pathogen that causes a spectrum of disease ranging from antibiotic-associated diarrhea to pseudomembranous colitis. Although the disease was first described in 1893, the etiologic agent was not isolated and identified until 1978. Since clinical and pathological features of C. difficile-associated disease are not easily distinguished from those of other gastrointestinal diseases, including ulcerative colitis, chronic inflammatory bowel disease, and Cro...

  4. Pericardial effusion and cardiac tamponade: clinical manifestation of chronic graft-versus-host disease after allogeneic hematopoietic stem cell transplantation.

    Science.gov (United States)

    Ferreira, David Cavalcanti; de Oliveira, José Salvador Rodrigues; Parísio, Katya; Ramalho, Fernanda Maria Morselli

    2014-03-01

    The authors report a case with pericardial effusion and cardiac tamponade as a rare clinical manifestation of chronic graft-versus-host disease in a young man with acute myelogenous leukemia submitted to an allogeneic hematopoietic stem cell transplantation from a related donor.

  5. Amyopathic Dermatomyositis: A Concise Review of Clinical Manifestations and Associated Malignancies.

    Science.gov (United States)

    Udkoff, Jeremy; Cohen, Philip R

    2016-10-01

    Amyopathic dermatomyositis is a rare, idiopathic, connective tissue disease that presents with dermatologic lesions of classic dermatomyositis but lacks the myopathy of this disease. Cutaneous manifestations may include Gottron's sign, heliotrope rash, and characteristic patterns of poikiloderma. There is a substantial risk for developing interstitial lung disease or malignancy in patients with amyopathic dermatomyositis. A literature review of amyopathic dermatomyositis was performed using the PubMed medical database. The key features of amyopathic dermatomyositis, including autoantibodies, clinical presentation and dermatologic manifestations, epidemiology, history, associated malignancies, management, and pathogenesis, are summarized in this review. Cancer (solid tumor) (73/79, 89 %) and hematologic malignancies (9/79, 11 %) were reported in 79 patients, with three patients having more than one malignancy. In addition, there were six patients with amyopathic dermatomyositis who had tumor of unknown primary, and eight patients with cancer-associated amyopathic dermatomyositis for whom no additional details were provided. From the group of 73 tumors for whom primary origin and sex were available, malignancy of the genitourinary organs (24/73, 33 %), aerorespiratory organs (15/73, 21 %), and breast (14/73, 19 %) were the most commonly observed solid organ tumors. Tumors of the genitourinary organs (15/48, 31 %) and breast (14/48, 29 %) were the most frequent neoplasms in women, accounting for 29 of 48 (60 %) cancers, with the most common sites being breast (14/48, 29 %), ovary (8/48, 17 %), and cervix or uterus (5/48, 10 %). In men, tumors of the aerorespiratory (9/25, 36 %) and genitourinary (9/25, 36 %) tracts were the most common neoplasms, accounting for 72 % (18/25) of cancers; the most common sites of primary malignancy were nasopharyngeal (6/25, 24 %), bladder (4/25, 16 %), and either colorectal, lung or prostate cancer (three cancers each

  6. 临床诊断思维%Clinical diagnosis thinking

    Institute of Scientific and Technical Information of China (English)

    潘祥林; 王涓冬; 赵华

    2015-01-01

    In order to improve the level and the ability of clinical physician′s diagnosis thinking,in this paper, the concept and importance of clinical diagnosis thinking, the basic conditions of diagnosis thinking,and the main methods of clinical diagnosis thinking are expounded.The relationship of clinical medical practice and improving the level and the ability of clinical thinking is reiterated.Several conditions of evaluating the level and the ability of clinical thinking are put forward.%为提高临床医师诊断思维水平与能力。本文阐述了临床诊断思维的概念与重要性;进行诊断思维应具备的基本条件;临床诊断思维常用的几种方法;重申了临床医疗实践与提高临床思维水平和能力的关系;初步提出了评价临床思维水平和能力的几个条件。

  7. A case series of children with apparent mercury toxic encephalopathies manifesting with clinical symptoms of regressive autistic disorders.

    Science.gov (United States)

    Geier, David A; Geier, Mark R

    2007-05-15

    Impairments in social relatedness and communication, repetitive behaviors, and stereotypic abnormal movement patterns characterize autism spectrum disorders (ASDs). It is clear that while genetic factors are important to the pathogenesis of ASDs, mercury exposure can induce immune, sensory, neurological, motor, and behavioral dysfunctions similar to traits defining or associated with ASDs. The Institutional Review Board of the Institute for Chronic Illnesses (Office for Human Research Protections, U.S. Department of Health and Human Services, IRB number IRB00005375) approved the present study. A case series of nine patients who presented to the Genetic Centers of America for a genetic/developmental evaluation are discussed. Eight of nine patients (one patient was found to have an ASD due to Rett's syndrome) (a) had regressive ASDs; (b) had elevated levels of androgens; (c) excreted significant amounts of mercury post chelation challenge; (d) had biochemical evidence of decreased function in their glutathione pathways; (e) had no known significant mercury exposure except from Thimerosal-containing vaccines/Rho(D)-immune globulin preparations; and (f) had alternate causes for their regressive ASDs ruled out. There was a significant dose-response relationship between the severity of the regressive ASDs observed and the total mercury dose children received from Thimerosal-containing vaccines/Rho (D)-immune globulin preparations. Based upon differential diagnoses, 8 of 9 patients examined were exposed to significant mercury from Thimerosal-containing biologic/vaccine preparations during their fetal/infant developmental periods, and subsequently, between 12 and 24 mo of age, these previously normally developing children suffered mercury toxic encephalopathies that manifested with clinical symptoms consistent with regressive ASDs. Evidence for mercury intoxication should be considered in the differential diagnosis as contributing to some regressive ASDs.

  8. Diagnosis and clinical implications of pancreatobiliary reflux

    Institute of Scientific and Technical Information of China (English)

    Terumi Kamisawa; Hajime Anjiki; Naoto Egawa; Masanao Kurata; Goro Honda; Kouji Tsuruta

    2008-01-01

    The sphincter of Oddi is located at the distal end of the pancreatic and bile ducts and regulates the outflow of bile and pancreatic juice.A common channel can be so long that the junction of the pancreatic and bile ducts is located outside of the duodenal wall,as occurs in pancreaticobiliary maljunction (PBM);in such cases,sphincter action does not functionally affect the junction.As the hydropressure within the pancreatic duct is usually greater than in the bile duct,pancreatic juice frequently refluxes into the biliary duct (pancreatobiliary reflux) in PBM,resulting in carcinogenetic conditions in the biliary tract.Pancreatobiliary reflux can be diagnosed from elevated amylase level in the bile,secretinstimulated dynamic magnetic resonance cholangiop ancreatography,and pancreatography via the minor duodenal papilla.Recently,it has become obvious that pancreatobiliary reflux can occur in individuals without PBM.Pancreatobiliary reflux might be related to biliary carcinogenesis even in some individuals without PBM.Since few systemic studies exist with respect to clinical relevance and implications of the pancreatobiliary reflux in individuals with normal pancreaticobiliary junction,further prospective clinical studies including appropriate management should be performed.

  9. Air Embolism: Diagnosis, Clinical Management and Outcomes

    Directory of Open Access Journals (Sweden)

    Colin J. McCarthy

    2017-01-01

    Full Text Available Air embolism is a rare but potentially fatal complication of surgical procedures. Rapid recognition and intervention is critical for reducing morbidity and mortality. We retrospectively characterized our experience with air embolism during medical procedures at a tertiary medical center. Electronic medical records were searched for all cases of air embolism over a 25-year period; relevant medical and imaging records were reviewed. Sixty-seven air embolism cases were identified; the mean age was 59 years (range, 3–89 years. Ninety-four percent occurred in-hospital, of which 77.8% were during an operation/invasive procedure. Vascular access-related procedures (33% were the most commonly associated with air embolism. Clinical signs and symptoms were related to the location the air embolus; 36 cases to the right heart/pulmonary artery, 21 to the cerebrum, and 10 were attributed to patent foramen ovale (PFO. Twenty-one percent of patients underwent hyperbaric oxygen therapy (HBOT, 7.5% aspiration of the air, and 63% had no sequelae. Mortality rate was 21%; 69% died within 48 hours. Thirteen patients had immediate cardiac arrest where mortality rate was 53.8%, compared to 13.5% (p = 0.0035 in those without. Air emboli were mainly iatrogenic, primarily associated with endovascular procedures. High clinical suspicion and early treatment are critical for survival.

  10. [The clinical manifestations and diagnostics of otitis media caused by tuberculosis].

    Science.gov (United States)

    Kriukov, A I; Garov, E V; Ivoĭlov, A Y U; Shadrin, G B; Sidorina, N G; Lavrova, A S

    2015-01-01

    The objective of the present study was to clarify the characteristic pathognomonic features of middle ear lesions associated with tuberculosis and the approaches to their diagnostics under the present-day conditions. The study included 11 cases (18 ears) of tuberculosis otitis media and the related lesions of the mastoid process diagnosed with the use of clinical, roentgenological, cytological, bacteriological, pathomorphological, and molecular-genetic methods (including PCR diagnostics). The primary localization of tuberculosis in the middle ear was documented in 6 patients; in 5 patients, it was associated with pulmonary involvement. Five patients presented with smoldering exudative otitis media and the remaining six ones with suppurative perforating otitis media. The tuberculous process was diagnosed with the use of various methods including clinical examination, bacteriological (9%), cytological (27.3%), pathomorphological (18%) studies, and PCR diagnostics (55%). Diagnosis was made within a period from 1 month to 1.5 years after the application of the patients for medical assistance which suggests the difficulty of verification of tuberculous etiology of the disease of the middle ear. It is concluded that the high index of suspicion in the case of smoldering middle ear pathology facilitates its early diagnostics and successful treatment.

  11. Altered E-Cadherin Levels and Distribution in Melanocytes Precede Clinical Manifestations of Vitiligo.

    Science.gov (United States)

    Wagner, Roselyne Y; Luciani, Flavie; Cario-André, Muriel; Rubod, Alain; Petit, Valérie; Benzekri, Laila; Ezzedine, Khaled; Lepreux, Sébastien; Steingrimsson, Eirikur; Taieb, A; Gauthier, Yvon; Larue, Lionel; Delmas, Véronique

    2015-07-01

    Vitiligo is the most common depigmenting disorder resulting from the loss of melanocytes from the basal epidermal layer. The pathogenesis of the disease is likely multifactorial and involves autoimmune causes, as well as oxidative and mechanical stress. It is important to identify early events in vitiligo to clarify pathogenesis, improve diagnosis, and inform therapy. Here, we show that E-cadherin (Ecad), which mediates the adhesion between melanocytes and keratinocytes in the epidermis, is absent from or discontinuously distributed across melanocyte membranes of vitiligo patients long before clinical lesions appear. This abnormality is associated with the detachment of the melanocytes from the basal to the suprabasal layers in the epidermis. Using human epidermal reconstructed skin and mouse models with normal or defective Ecad expression in melanocytes, we demonstrated that Ecad is required for melanocyte adhesiveness to the basal layer under oxidative and mechanical stress, establishing a link between silent/preclinical, cell-autonomous defects in vitiligo melanocytes and known environmental stressors accelerating disease expression. Our results implicate a primary predisposing skin defect affecting melanocyte adhesiveness that, under stress conditions, leads to disappearance of melanocytes and clinical vitiligo. Melanocyte adhesiveness is thus a potential target for therapy aiming at disease stabilization.

  12. The challenge of Clostridium difficile infection: Overview of clinical manifestations, diagnostic tools and therapeutic options.

    Science.gov (United States)

    Postma, Nynke; Kiers, Dorien; Pickkers, Peter

    2015-12-01

    The most important infectious cause of antibiotic-associated diarrhoea and colitis is Clostridium difficile, which is a Gram-positive, anaerobic, spore-forming, toxin-producing bacillus. In this overview we will discuss the diagnostic and therapeutic management of patients presenting with suspected or proven C. difficile infection (CDI). The clinical spectrum varies from asymptomatic C. difficile carriers to fulminant colitis with multi-organ failure. The onset of symptoms is usually within 2 weeks after initiation of antibiotic treatment. Diagnosis is based on the combination of clinical symptoms and either a positive stool test for C. difficile toxins or endoscopic or histological findings of pseudomembranous colitis. There is no indication for treatment of asymptomatic carriers, but patients with proven CDI should be treated. Treatment consists of cessation of the provoking antibiotic treatment, secondary prevention by infection control strategies, and treatment with metronidazole or vancomycin. Treatment of recurring CDI, severe infection, the need for surgery, and novel alternative potential treatment strategies will be discussed. The concurrent increase in multiresistant colonisation and increasing numbers of asymptomatic carriers of C. difficile will lead to an increase of the situation in which patients with severe infections, treated with broad-spectrum antibiotics, will develop concurrent severe CDI. We will discuss possible therapy strategies for these patients.

  13. Hypereosinophilic syndrome: Clinical, laboratory, and imaging manifestations in patients with hepatic involvement

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Gi Beom; Lee, Jong Min; Sung, Yeong Soon; Kang, Duk Sik [Kyungpook Natioanl University College of Medicine, Daegu (Korea, Republic of); Kim, Ok Hwoa [Dongkang general Hospital, Ulsan (Korea, Republic of)

    1993-07-15

    The hypereosinophilic syndrome (HES) commonly involves liver and spleen but only a few literature has reported the imaging features. In this article, we present the imaging features of the liver and spleen in HES patients together with clinical and laboratory features. This study included 5 HES patients with hepatic involvement. Extensive laboratory tests including multiple hematologic, serologic, parasitological, and immunologic examinations were performed. Imaging studies included CT, ultrasound (US)of upper abdomen and hepatosplenic scintigraphy. All patients were periodically examined by laboratory and imaging studies for 4 to 24 months. The common clinical presentations were weakness, mild fever, and dry cough. All patients revealed leukocytosis with eosinophilia of 40 to 80% and benign eosinophilic hyperplasia of the bone marrow. The percutaneous biopsy of the hepatic focal lesions performed in 2 patients showed numerous benigin eosinophilic infiltrates and one of them revealed combined calibration necrosis of hepatocytes. All cases revealed hepatomegaly with multiple focal lesions on at least on of CT, US, or scintigraphy. These findings completely disappeared in 2 to 6 months following medication of corticosteroid or antihistamines. The HES involved the liver and CT, US, or scintigraphic studies showed hepatic multifocal lesions with hepatomegaly. Differential diagnosis of these findings should include metastatic disease, lymphoma, leukemia, candidiasis or other opportunistic infections.

  14. A CLINICAL STUDY OF RHEUMATOLOGICAL MANIFESTATIONS IN PATIENTS WITH TYPE 2 DIABETES MELLITUS

    Directory of Open Access Journals (Sweden)

    Vineetha Kolar

    2015-12-01

    Full Text Available OBJECTIVES Type 2 diabetes mellitus is associated with various rheumatological manifestations that are debilitating and affect the quality of life. The present study is about prevalence of rheumatological manifestations in type 2 diabetics. METHODS The current study is a cross sectional study with 100 patients of type 2 diabetics and 50 patients of age and sex matched non diabetics were examined for rheumatological manifestations during the period July 2008 to July 2010. The Rheumatological manifestations are documented and prevalence rates were calculated in percent of total cases in each group using Fisher’s exact test and Chi-square test. RESULTS Rheumatological manifestations were seen in 31% patients with type 2 diabetes mellitus compared to 16% in non-diabetics. Periarthritis of shoulder was seen in 18% diabetics compared to 4% in non-diabetics and was statistically significant. Diffuse idiopathic skeletal hyperostosis was observed in 3% of diabetics. Osteoarthritis of knee was noted in 8% of diabetics compared to 10% of non-diabetics. Carpal tunnel syndrome was seen in 3% of diabetics and 2% non-diabetics. The manifestations were more predominant in females 43.6% as compared to males 23%. CONCLUSION Rheumatological manifestations are more prevalent in type 2 diabetics than non-diabetics especially periarthritis of shoulder

  15. 1.2.Clinical laboratory diagnosis

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930212 Enzymatic analysis of serum total bileacids and clinical evaluation.WEI Youren (魏有仁),et al.Sino—Japan Friendship Hosp,Bei-jing,100029.CHin J Med Lab Technol 1993;16(1):11—14.An enzymatic colorimetric assay of serum to-tal bile acids (TBA) was reported for the firsttime in China.3 α-hydroxysteroid dehydroge-nase (3α-HSD) had been purified from pseu-domonas testosteroni in the sventies,and hadbeen used as a main enzyme reagent in the enzy-matic analysis of TBA.In this paper,the au-thors introduced a rapid,sensitive colorimetricassay using 3α-HSD,and a couple enzyme 5β-steroid Δ~4 dehydrogenase to imcrease the con-

  16. Oral Lichen Planus: An Update on Etiology, Pathogenesis, Clinical Presentation, Diagnosis and Management.

    Science.gov (United States)

    Gupta, Sonia; Jawanda, Manveen Kaur

    2015-01-01

    The mouth is a mirror of health or disease, a sentinel or early warning system. The oral cavity might well be thought as a window to the body because oral manifestations accompany many systemic diseases. In many instances, oral involvement precedes the appearance of other symptoms or lesions at other locations. Oral lichen planus (OLP) is a chronic mucocutaneous disorder of stratified squamous epithelium of uncertain etiology that affects oral and genital mucous membranes, skin, nails, and scalp. LP is estimated to affect 0.5% to 2.0% of the general population. This disease has most often been reported in middle-aged patients with 30-60 years of age and is more common in females than in males. The disease seems to be mediated by an antigen-specific mechanism, activating cytotoxic T cells, and non-specific mechanisms like mast cell degranulation and matrix metalloproteinase activation. A proper understanding of the pathogenesis, clinical presentation, diagnosis of the disease becomes important for providing the right treatment. This article discusses the prevalence, etiology, clinical features, oral manifestations, diagnosis, complications and treatment of oral LP.

  17. ASSOCIATION BETWEEN CLINICAL MANIFESTATIONS AND ULTRASONIC SIGNS OF INFLAMMATION IN PATIENTS WITH RHEUMATOID ARTHRITIS

    Directory of Open Access Journals (Sweden)

    O. G. Alekseeva

    2015-01-01

    Full Text Available Rheumatoid arthritis (RA is a systemic autoimmune rheumatic disease characterized by chronic inflammation of the synovial membrane and a wide range of extra-articular (systemic manifestations. The main goal of RA therapy is to achieve low disease activity or clinical remission. Power Doppler (PD ultrasonography (USG can significantly distinguish between active synovitis (hypervascularization of the synovial membrane and inactive synovial proliferation.Objective: to investigate the association between the ultrasonic signs of active inflammation and the clinical and laboratory parameters of disease activity in patients with RA.Subjects and methods. The investigation included RA patients followed up at the V.A. Nasonova Research Institute of Rheumatology within the first Russian strategic study of pharmacotherapy for RA – REMARCA (Russian invEstigation of MethotrexAte and biologicals for eaRly aCtive Arthritis. A total of 105 RA patients (mean age 51 years, among whom 80% were rheumatoid factor (RF-positive and 75% were anti-cyclic citrullinated peptide (ACCP-positive, were examined. In all the patients, methotrexate (metoject, MEDAC, Germany as the first diseasemodifying anti-rheumatic drug was subcutaneously injected in an initial dose of 10 mg/week with its rapid escalation up to 20–25 mg/week. Then the therapy was added by biologicals as the need arose. The clinical and laboratory parameters were analyzed immediately before and then 12, 24, 36, and 48 weeks following treatment. Therapeutic efficacy was evaluated using the European League Against Rheumatism (EULAR criteria and activity indices (DAS28, CDAI, and SDAI. USG of eight articular areas (the wrist, second and third metacarpophalangeal, second and third proximal interphalangeal, second and fifth metatarsophalangeal articulations in the hand and foot of the clinically dominant side was carried out in all the patients prior to treatment and at 12, 24, 36, and 48 weeks

  18. THE CLINICAL MANIFESTATIONS AND COURSE OF DUODENAL ULCER DISEASE AFTER PERFORATED ULCER

    Directory of Open Access Journals (Sweden)

    L. A. Lyubskaya

    2014-01-01

    Full Text Available Objective: to compare clinical manifestations, course, mental status in duodenal ulcer (DU patients with a history of perforated ulcer and its uncomplicated course.Subjects and methods. One hundred and thirteen patents with DU were examined. Group 1 included 61 patients with uncomplicated DUand Group 2 comprised 52 patients with a history of perforated ulcer. A comparison group consisted of 20 patients who had undergone laparotomy. Physical and mental status examinations, esophagogastroduodenoscopy (EGDS, and 24-hour pH-metry were performed.Results. Classical pain syndrome was observed in 75 % of the patients with uncomplicated DU. Prior to perforation, the pain and dyspeptic syndromes were distinguished only by a significantly lower degree in Group 2; following perforation, the pain syndrome was recorded more frequently, it was more extensive, meal-unrelated, and similar to that in the patients who had undergone laparotomy and had diminished appetite (36.5 %. EGDS showed that the complicated course was accompanied by the significantly higher incidence of erosive esophagitis (21.2 %, gastritis (51.9 %, duodenitis (25.0 %, multiple ulcers (28.8 %, and larger ulcers. 24-hour pH-metry indicated that the level of hyperacidity in Group 2 was higher and the circadian intragastric pH variations were less marked than those in uncomplicated DU. The patients with a history of perforated ulcer showed a high rate of anxiety and depressive changes. Conclusion. In complicated DU, marked monotonic hyperacidity causes common erosive-ulcerative lesions in the gastroduodenal area in relatively mild pain syndrome, late referrals, and long-term ulcer healing. After perforation followed by wound closure, the pain and dyspeptic syndromes become more pronounced, which is associated with anxiety and depressive changes in the mental status, as well as with early referrals and less healing time.

  19. Clinical manifestations and arsenic methylation after a rare subacute arsenic poisoning accident.

    Science.gov (United States)

    Xu, Yuanyuan; Wang, Yi; Zheng, Quanmei; Li, Bing; Li, Xin; Jin, Yaping; Lv, Xiuqiang; Qu, Guang; Sun, Guifan

    2008-06-01

    One hundred and four workers ingested excessive levels of arsenic in an accident caused by leakage of pipeline in a copper-smelting factory. Clinical examinations were performed by physicians in a local hospital. Excreted urinary arsenic species were determined by cold trap hydride generation atomic absorption spectrometry. In the initial toxic phase, gastrointestinal symptoms were predominant (83 people, 79.8%). Most patients showed leucopenia (72 people, 69.2%), and increased serum alanine aminotransferase (84 people, 80.8%) and aspartate aminotransferase (58 people, 55.8%). Thirty-five patients (33.6%) had elevated red blood cells in urine. After 17 days of admission, many subjects (45 people, 43.3%) developed peripheral neuropathy and 25 of these 45 patients (24.0%) showed a decrease in motor and sensory nerve conduction velocity. In the comparison of urinary arsenic metabolites among subacute arsenic-poisoned, chronic high arsenic-exposed and control subjects, we found that subacute arsenic-poisoned patients had significantly elevated proportions of urinary inorganic arsenic (iAs) and methylarsonic acid (MMA) but reduced proportion of urinary dimethylarsinic acid (DMA) compared with chronic high arsenic-exposed and control subjects. Chronic exposed subjects excreted higher proportions of iAs and MMA but lower proportions of DMA in urine compared with control subjects. These results suggest that gastrointestinal symptoms, leucopenia, and hepatic and urinary injury are predominant in the initial phase of subacute arsenic poisoning. Peripheral neuropathy is the most frequent manifestation after the initial phase. The biomethylation of arsenic decreases in a dose rate-dependent manner.

  20. Myelofibrosis-associated complications: pathogenesis, clinical manifestations, and effects on outcomes

    Directory of Open Access Journals (Sweden)

    Mughal TI

    2014-01-01

    Full Text Available Tariq I Mughal,1 Kris Vaddi,2 Nicholas J Sarlis,2 Srdan Verstovsek31Tufts University School of Medicine, Boston, MA, 2Incyte Corporation, Wilmington, DE, 3Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USAAbstract: Myelofibrosis (MF is a rare chronic BCR-ABL1 (breakpoint cluster region-Abelson murine leukemia viral oncogene homologue 1-negative myeloproliferative neoplasm characterized by progressive bone marrow fibrosis, inefficient hematopoiesis, and shortened survival. The clinical manifestations of MF include splenomegaly, consequent to extramedullary hematopoiesis, cytopenias, and an array of potentially debilitating abdominal and constitutional symptoms. Dysregulated Janus kinase (JAK-signal transducer and activator of transcription signaling underlies secondary disease-associated effects in MF, such as myeloproliferation, bone marrow fibrosis, constitutional symptoms, and cachexia. Common fatal complications of MF include transformation to acute leukemia, thrombohemorrhagic events, organ failure, and infections. Potential complications from hepatosplenomegaly include portal hypertension and variceal bleeding, whereas extramedullary hematopoiesis outside the spleen and liver – depending on the affected organ – may result in intracranial hypertension, spinal cord compression, pulmonary hypertension, pleural effusions, lymphadenopathy, skin lesions, and/or exacerbation of abdominal symptoms. Although allogeneic stem cell transplantation is the only potentially curative therapy, it is suitable for few patients. The JAK1/JAK2 inhibitor ruxolitinib is effective in improving splenomegaly, MF-related symptoms, and quality-of-life measures. Emerging evidence that ruxolitinib may be associated with a survival benefit in intermediate- or high-risk MF suggests the possibility of a disease-modifying effect. Consequently, ruxolitinib could provide a treatment backbone to which other (conventional and novel

  1. NITRATE TOXICITY IN GROUNDWATER: ITS CLINICAL MANIFESTATIONS, PREVENTIVE MEASURES AND MITIGATION STRATEGIES

    Directory of Open Access Journals (Sweden)

    Raaz K. Maheshwari

    2013-09-01

    Full Text Available Groundwater pollution has become a drastic problem principally because of nature and wide spread use of modern chemicals viz. pesticides and fertilizers. Excessive application of fertilizers as well as organic wastes and sewage has been implicated in the nitrogen pollution of groundwater. Therefore, the issue of rising nitrate concentration in groundwater has become a subject of extensive research in India and Rajasthan in particular. In natural water, nitrate ((NO3- N is usually 100ppm and in organic matters (amine and /or amides resulting in the production of nitrosamines (carcinogens. Number of cases (human and livestock, suffering from gastric cancer have been observed. Reverse osmosis (RO process has great potential in the mitigation of nitrate ion containing waters. Generally, the presence of particular substances may affect the removal of specific ions. The presence of di-hydrogen phosphate ions (DHP-ions in the feed solution enhances the nitrate removal efficiency of the polyamide RO membrane. In this present research work, a Flmtec TW30, polyamide thin-film composite, RO membrane was used for nitrate removal through RO set up. The rejection of individual nitrate was found to be around 76%. After addition of KH2¬PO4 to the feed containing nitrate ions the rejection was improved up to 84. This high level of increment in rejection of nitrate ion indicates the possible usage of KH2¬PO4 in RO for nitrate removal. This fact of removal is due to the K+ ions binding to the electronic lone-pairs of polyamide membrane holding di-hydrogen phosphate ions. This establishes a negative layer on the surface of the membrane. The diffusion of nitrate through the membrane is diminished by the formed layer. Present manuscript delineates clinical manifestations of nitrate toxicity and mitigation of nitrate ion by means of state-of-the-art reverse osmosis technology.

  2. The diagnosis and clinical significance of polyautoimmunity.

    Science.gov (United States)

    Anaya, Juan-Manuel

    2014-01-01

    Autoimmune diseases (ADs) are chronic and heterogeneous conditions that affect specific target organs or multiple organ systems. The chronic nature of these diseases places a significant burden on the utilization of medical care, direct and indirect economic costs, and quality of life. ADs are observed in genetically susceptible individuals in whom their clinical expression is modified by permissive and protective environments occurring over time. These are complex traits, meaning that their inheritance does not follow a single-gene dominant or single-gene recessive Mendelian law, and thus that they are polygenic. ADs are often diagnosed according to classification criteria, however they share similar subphenotypes including signs and symptoms, non-specific autoantibodies and other immune changes, which are prone to taxonomic problems. Polyautoimmunity is defined as the presence of more than one AD in a single patient. When three or more ADs coexist, this condition is called multiple autoimmune syndrome (MAS), which represents the best example of polyautoimmunity as well as the effect of a single genotype on diverse autoimmune phenotypes. Its study will provide important clues to elucidate the common mechanisms of ADs (i.e., the autoimmune tautology).

  3. Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management.

    Science.gov (United States)

    Richards, Michael D; Wong, Agnes

    2015-12-01

    Infantile nystagmus syndrome (INS) is an important clinical diagnosis because it is a common presenting sign of many ocular, neurologic, and systemic diseases. Although INS has been studied for more than a century, its diagnosis and treatment remains a challenge to clinicians because of its varied manifestations and multiple associations, and its pathogenesis continues to rouse considerable scientific debate. Fueled by these challenges, recent basic research and clinical investigations have provided new insights into INS. New genetic discoveries and technological advances in ocular imaging have refined our understanding of INS subtypes and offer new diagnostic possibilities. Unexpected surgical outcomes have led to new understanding of its pathogenesis based on novel hypothesized pathways of ocular motor control. Comparative studies on nonhuman visual systems have also informed models of the neural substrate of INS in humans. This review brings together the classic profile of this disorder with recent research to provide an update on the clinical features of INS, an overview of the current theories on how and why INS develops, and a practical approach to the diagnosis and management of INS.

  4. The Clinical Diagnosis and Management of Kawasaki Disease: a Review and Update.

    Science.gov (United States)

    Zhu, Frank H; Ang, Jocelyn Y

    2016-09-01

    Kawasaki disease is an acute, self-limited vasculitis of childhood and has become the leading cause of acquired pediatric heart disease in the USA. Prompt treatment is essential in reducing cardiac-related morbidity and mortality. The underlying etiology remains unknown. The disease itself may be the characteristic manifestation of a common pathway of immune-mediated vascular inflammation in susceptible hosts. The characteristic clinical features of fever for at least 5 days with bilateral nonpurulent conjunctivitis, rash, changes in lips and oral cavity, changes in peripheral extremities, and cervical lymphadenopathy remain the mainstay of diagnosis. Supplementary laboratory criteria can aid in the diagnosis, particularly in cases of incomplete clinical presentation. Diagnosis of Kawasaki disease can be challenging as the clinical presentation can be mistaken for a variety of other pediatric illnesses. Standard of care consists of intravenous immune globulin and aspirin. Corticosteroids, infliximab, and cyclosporine A have been used as adjunct therapy for Kawasaki disease refractory to initial treatment. There is ongoing research into the use of these agents in the initial therapy of Kawasaki disease.

  5. 不典型性心肌梗死的临床表现及鉴别%Clinical Manifestations and Identification of Atypical Myocardial Infarction

    Institute of Scientific and Technical Information of China (English)

    杨宏

    2014-01-01

    目的:分析不典型心肌梗死的临床表现,探讨有效的鉴别方法。方法:以本院收治的46例不典型心肌梗死患者为观察组,另46例典型心肌梗死患者为对照组,比较其一般资料、临床症状、心电图、误诊情况、危险因素、并发症及死亡率等。结果:观察组患者临床表现不具典型性,心电图改变不典型;观察组患者误诊率、并发症发生率、死亡率以及不良反应发生率均明显高于对照组(P<0.05)。结论:不典型性心肌梗死临床表现无特异性,诊断时要通过严密观察其体征、辅助心电图变化和血清酶学检查等多种手段来确诊,以提高临床治愈率。%Objective:To analyze the clinical manifestations of atypical myocardial infarction and explore effective methods of identification.Method:46 cases of atypical myocardial infarction patients admitted to our hospital as the observation group,another 46 cases of typical myocardial infarction patients admitted to our hospital as the control group.The general data,clinical symptoms,ECG,misdiagnosis,risk factors,morbidity and mortality and so on of two groups were compared.Result:Patients in clinical manifestation of observation group was not typical,ECG changes were not typical;The rate of misdiagnosis,diabetes pulation,incidence of complications mortality and adverse effects rate of patients in the observation group were significantly higher than the control group(P<0.05).Conclusion:The clinical manifestations of atypical myocardial infarction are not specific.In order to improve the clinical cure rate,close observation of patients’signs combined with ECG changes inspection,serum enzymes inspection and other methods is necessary to make a definite diagnosis during the diagnosis.

  6. [Minimal hepatic encephalopathy: characteristics, diagnosis and clinical implications].

    Science.gov (United States)

    Torre Delgadillo, Aldo; Guerrero-Hernández, Ignacio; Uribe, Misael

    2006-01-01

    The term minimal hepatic encephalopathy (MHE) refers to the subtle changes in cognitive function, electrophysiological parameters, cerebral neurochemical/neurotransmitter homeostasis, cerebral blood flow, metabolism, and fluid homeostasis that can be observed in patients with cirrhosis who have no clinical evidence of hepatic encephalopathy; the prevalence is as high as 84% in patients with hepatic cirrhosis. This cirrhosis complication is generally not perceived by physician, and diagnosis can only be made by neuropsychological tests and other especial measurements like evoked potentials and image studies like positron emission tomography. Diagnosis of minimal hepatic encephalopathy may have prognostic and therapeutic implications in cirrhotic patients. The present review pretends to explore the clinic, therapeutic, diagnosis and prognostic aspects of this complication.

  7. Hip osteoarthrosis: clinical presentation, diagnosis, approaches to treatment

    Directory of Open Access Journals (Sweden)

    Marina Stanislavovna Svetlova

    2013-01-01

    Full Text Available The paper characterizes the specific features of the anatomy and physiology of the hip joint, the clinical presentation of coxarthrosis and presents current methods for the diagnosis and treatment of the disease. It gives the results of a trial evaluating the impact of long-term (one-year theraflex therapy on the symptoms of hip osteoarthrosis.

  8. Integrating Preclinical and Clinical Oral Diagnosis and Radiology.

    Science.gov (United States)

    Rhodus, Nelson L.; Brand, John W.

    1988-01-01

    A program providing second-year dental students with early experience in direct patient contact in an oral diagnosis/oral radiology clinic was well received by both students and faculty and was found to develop desirable skills and qualities in the students participating. (MSE)

  9. Rules for clinical diagnosis in babies with ambiguous genitalia.

    Science.gov (United States)

    Low, Y; Hutson, J M

    2003-08-01

    Intersex disorders are rare and complex; yet, in each case of genital ambiguity, accurate and expeditious management is required of the clinician. This article reviews the embryology of sexual differentiation, from which some 'rules' of diagnosis are derived. A simplified approach to the interpretation of clinical signs in ambiguous genitalia is presented and discussed.

  10. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

    Science.gov (United States)

    Desbats, Maria Andrea; Lunardi, Giada; Doimo, Mara; Trevisson, Eva; Salviati, Leonardo

    2015-01-01

    Coenzyme Q(10) is a remarkable lipid involved in many cellular processes such as energy production through the mitochondrial respiratory chain (RC), beta-oxidation of fatty acids, and pyrimidine biosynthesis, but it is also one of the main cellular antioxidants. Its biosynthesis is still incompletely characterized and requires at least 15 genes. Mutations in eight of them (PDSS1, PDSS2, COQ2, COQ4, COQ6, ADCK3, ADCK4, and COQ9) cause primary CoQ(10) deficiency, a heterogeneous group of disorders with variable age of onset (from birth to the seventh decade) and associated clinical phenotypes, ranging from a fatal multisystem disease to isolated steroid resistant nephrotic syndrome (SRNS) or isolated central nervous system disease. The pathogenesis is complex and related to the different functions of CoQ(10). It involves defective ATP production and oxidative stress, but also an impairment of pyrimidine biosynthesis and increased apoptosis. CoQ(10) deficiency can also be observed in patients with defects unrelated to CoQ(10) biosynthesis, such as RC defects, multiple acyl-CoA dehydrogenase deficiency, and ataxia and oculomotor apraxia.Patients with both primary and secondary deficiencies benefit from high-dose oral supplementation with CoQ(10). In primary forms treatment can stop the progression of both SRNS and encephalopathy, hence the critical importance of a prompt diagnosis. Treatment may be beneficial also for secondary forms, although with less striking results.In this review we will focus on CoQ(10) biosynthesis in humans, on the genetic defects and the specific clinical phenotypes associated with CoQ(10) deficiency, and on the diagnostic strategies for these conditions.

  11. Chinese SLE Treatment and Research Group Registry: III. Association of Autoantibodies with Clinical Manifestations in Chinese Patients with Systemic Lupus Erythematosus

    Directory of Open Access Journals (Sweden)

    Jing Li

    2014-01-01

    Full Text Available We investigated the characteristics of Chinese SLE patients by analyzing the association between specific autoantibodies and clinical manifestations of 2104 SLE patients from registry data of CSTAR cohort. Significant (P<0.05 associations were found between anti-Sm antibody, anti-rRNP antibody, and malar rash; between anti-RNP antibody, anti-SSA antibody, and pulmonary arterial hypertension (PAH; between anti-SSB antibody and hematologic involvement; and between anti-dsDNA antibody and nephropathy. APL antibody was associated with hematologic involvement, interstitial lung disease, and a lower prevalence of oral ulcerations (P<0.05. Associations were also found between anti-dsDNA antibody and a lower prevalence of photosensitivity, and between anti-SSA antibody and a lower prevalence of nephropathy (P<0.05. Most of these findings were consistent with other studies in the literature but this study is the first report on the association between anti-SSA and a lower prevalence of nephropathy. The correlations of specific autoantibodies and clinical manifestations could provide clues for physicians to predict organ damages in SLE patients. We suggest that a thorough screening of autoantibodies should be carried out when the diagnosis of SLE is established, and repeated echocardiography annually in SLE patients with anti-RNP or anti-SSA antibody should be performed.

  12. 婴幼儿百日咳的临床特征%Clinical manifestations of Bordetella pertussis infection in infants

    Institute of Scientific and Technical Information of China (English)

    黄建琼; 马卓娅; 郑跃杰; 刘恩梅

    2014-01-01

    Objective To explore the clinical manifestations and epidemiological profiles of hospitalized infants with Bordetella pertussis infection and to improve the knowledge for its early diagnosis and treatment.Methods Using a retrospective analysis method,the data of 142 hospitalized infants with Bordetella pertussis infection in Shenzhen Children's Hospital from 2011 to 2013 were collected,which was confirmed by a real-time polymerase chain reaction(PCR) of nasopharyngeal secretion.The SPSS 16.0 software was used for statistical analysis.Results Of the 142hospitalized infants with Bordetella pertussis infection,the ratio of male to female was 2.1∶ 1.0 (96/41 cases).Ninetythree (65.5%) cases were aged less than 3 months old,26 cases (18.3%) were 3-6 months old and 23 cases (16.2%) were 6-36 months old.One hundred and twenty-six (88.7%) patients were unvaccinated or incompletely vaccinated.The most common clinical manifestation was paroxysmal cough which accounts for 104/142 (73.2%) cases,and 6 cases of which had roaring(4.2%).Peripheral blood WBC level of 83 cases increased,and 75 (90.4%) cases were lymphocytosis.The positive rate of X-ray was 60.6%.Eighty-one cases were complicated with bacteria,respiratory virus or mycoplasma pneumonia infection.There were significant differences in symptom of fever and infection of respiratory tract pathogen among 3 groups.The symptom of fever in the group aged less than 3 months old group was significantly lower than the other 2 groups (x2 =11.45,P < 0.01 ;x2 =34.56,P < 0.01),and 6-36 months old group was significantly higher than the other 2 groups(x2 =7.590,P < 0.01 ;x2 =6.928,P < 0.01).Conclusions Bordetella pertussis is an important pathogen for the infants with persistent cough,especially in unvaccinated or incompletely vaccinated infants,but the clinical manifestation and signs of pertussis are atypical,which may lead to a misdiagnosis and delay proper treatment.As a rapid and sensitive method of

  13. [Is the diagnosis of schizophrenic illness possible in the initial prodromal phase to the first psychotic manifestation?].

    Science.gov (United States)

    Klosterkötter, J; Hellmich, M; Schultze-Lutter, F

    2000-04-01

    In the international research on schizophrenia, the early detection and intervention already in the initial prodromal phase prior to the first psychotic manifestation has become one of the main aims in recent years. Therefore, in the present study, the diagnostic efficiency of initial prodromal symptoms was examined prospectively for the first time ever. At index-examination, patients were examined with the 'Bonn Scale for the Assessment of Basic Symptoms--BSABS' and the ninth version of the 'Present State Examination--PSE 9'. At that time, none of the 160 patients had shown psychotic symptoms, but in 110 of the cases prodromal symptoms were found. At the reexamination that took place in average 9.6 years later, patients were explored with regard to a meantime transition to a first psychotic episode applying the same instruments as at index-examination. 79 of the 160 patients (49.38%) had developed a schizophrenic disorder according to DSM-IV-criteria in the catamnestic interval. In general, the 66 assessed prodromal symptoms exhibited a high sensitivity (.98), a high negative predictive power (.96) and a low percentage of false-negative predictions (1.3%), but lower values of specificity (.59) and positive predictive power (.70) as well as a higher percentage of false-positive predictions (20.6%). However, for a subset of mainly cognitive prodromal symptoms with a sensitivity sufficient for diagnostic criteria, high specificities (.85-.91) and positive predictive powers (.71-.91) as well as satisfactory percentages of false-positive predictions (7.5%-1.9%), and good classification rates (81.25%) were found. The results show that the applied conceptualization of prodromal symptoms that originates in the German psychopathological tradition is indeed useful for an early detection of psychoses. By assessing those prodromal symptoms, which were proven to be highly predictive, a diagnosis of schizophrenic disorders already seems possible in the initial prodrome. Thus in

  14. Clinical Guidelines for the Diagnosis and Treatment of Cushing's Disease in Korea

    Directory of Open Access Journals (Sweden)

    Kyu Yeon Hur

    2015-03-01

    Full Text Available Cushing's disease (CD is a rare disorder characterized by the overproduction of adrenocorticotropic hormone due to a pituitary adenoma that ultimately stimulates excessive cortisol secretion from the adrenal glands. Prior to the detection of pituitary adenomas, various clinical signs of CD such as central obesity, moon face, hirsutism, and facial plethora are usually already present. Uncontrolled hypercortisolism is associated with metabolic, cardiovascular, and psychological disorders that result in increased mortality. Hence, the early detection and treatment of CD are not only important but mandatory. Because its clinical manifestations vary from patient to patient and are common in other obesity-related conditions, the precise diagnosis of CD can be problematic. Thus, the present set of guidelines was compiled by Korean experts in this field to assist clinicians with the screening, diagnoses, and treatment of patients with CD using currently available tests and treatment modalities.

  15. Epidemiological characteristics and clinical manifestations of acute non-A-E hepatitis

    Directory of Open Access Journals (Sweden)

    Delić Dragan

    2010-01-01

    Full Text Available Background/Aim. Acute non-A, non-B, non-C, non-D, non-E hepatitis (non-A-E AH is an acute disease of the liver of unknown etiology for which one or more new, so far undetected, hepatotropic viruses may be responsible. The frequency of non-A-E AH ranges from 3.8% to 33.9%, and therefore it has a significant place within current infectology and hepatology. The aim of our study was to establish the frequency, clinical and biochemical characteristics, natural course and outcome of non-A-E AH and compare them with control groups affected by acute viral hepatitis A, B and C. Methods. This descriptive-analytic prospective study included 31 patients with non-A-E AH treated at the Institute of Infectious and Tropical Diseases, Clinical Center of Serbia, Belgrade, from 2003 to 2008. They were followed up during the period not less than 6 months. The controls involved randomly selected patients, treated at the same time with a definite diagnosis of acute viral hepatitis A, B and C. Statistical data analysis used Mann-Whitney Utest, Student's t-test and variance analysis. The value of p < 0.05 was considered statistically significant. Results. The frequency of non-A-E AH was 7.6%. Almost no difference was found between sexes (male/female ratio was 1 : 1.07; it was developed in all age groups, with the highest incidence in the middle age (mean age was 38.32 ± 15.3 years. It appeared equally throughout the whole year. Out of risk factors, inoculation risk was predominant (before all, dental interventions, mostly involving urban population living in comfortable conditions. The duration of incubation varied much ranging from 20 to 180 days (median 60 days. By clinical course, moderate and icteric forms were most common, mostly corresponding to acute hepatitis A and C. On the other hand, by duration of the disease (mean duration was 67.1 ± 27.1 and chronic transformation, non-A-E AH resembled to acute hepatitis B. Progression to chronicity was recorded in 9

  16. Cardiovascular manifestations of phaeochromocytoma

    NARCIS (Netherlands)

    Prejbisz, A.; Lenders, J.W.M.; Eisenhofer, G.; Januszewicz, A.

    2011-01-01

    Clinical expression of phaeochromocytoma may involve numerous cardiovascular manifestations, but usually presents as sustained or paroxysmal hypertension associated with other signs and symptoms of catecholamine excess. Most of the life-threatening cardiovascular manifestations of phaeochromocytoma,

  17. [Lactose intolerance: pathophysiology, clinical symptoms, diagnosis and treatment].

    Science.gov (United States)

    Hutyra, Tomasz; Iwańczak, Barbara

    2009-02-01

    Lactose malabsorption and milk products intolerance symptoms are the most common alimentary tract disorders. Lactose intolerance is a result of lactase deficiency or lack of lactase and lactose malabsorption. Three types of lactase deficiency were distinguished: congenital, late-onset lactase deficiency and secondary lactase deficiency. Lactose intolerance means the appearance of clinical gastrointestinal symptoms after ingestion of lactose. To the clinical symptoms of lactose intolerance belongs: nausea, vomiting, abdominal distension, cramps, flatulence, flatus, diarrhea and abdominal pain. The diagnosis of lactose intolerance is based on the breath hydrogen test and analysis of lactase activity in the small intestine mucosa. Dietary treatment eliminates clinical symptoms.

  18. Clinical manifestations and predictors of thrombocytopenia in hospitalized adults with dengue fever

    Directory of Open Access Journals (Sweden)

    Akshatha Rao Aroor

    2015-01-01

    Full Text Available Background: India is one of the seven identified Southeast Asian countries reporting frequent outbreaks of dengue fever (DF. Aims: This study was to analyze clinical and laboratory profile and predictive markers of thrombocytopenia and length of hospital stay in DF. Materials and Methods: This record-based retrospective study conducted in a coastal district of Karnataka, South India, included all dengue cases in adults aged >18 years, admitted during period of January 2011 to December 2014. Multivariate logistic regression analysis was carried out to compute odds ratio (OR and 95% confidence interval (CI to assess independent associations of variables with low platelet count and longer duration of hospital stay. Results: Among 207 dengue immunoglobulin M (IgM antibody confirmed cases (mean age of 36.94 ± 14.61 years, 143 (69.1% were males and 64 were females. The mean duration of illness and hospital stay were 4.94 ± 3.58 days and 5.98 ± 2.58 days, respectively. Abdominal symptoms included nausea and vomiting (53.6%, abdominal pain (25.1%, and diarrhea (13.5%. Bleeding manifestations were seen in 24 (11.6% cases and fluid accumulation was revealed in 18 (8.7% cases. The mean platelet count was 110,159.42 ± 68,397.32 (cells/mm 3 . Low platelet count on admission was associated with the presence of rash (OR = 0.43, 95% CI 0.23-0.81, high aspartate aminotransferase (AST levels (OR = 3.14, 95% CI 1.58-6.23, high alanine aminotransferase (ALT levels (OR = 2.91, 95% CI 1.55-5.47, and low albumin levels (OR = 4.48, 95% CI 1.02-19.75. The duration of hospital stay was associated with diarrhea (OR = 0.4, 95% CI 0.18-0.9, abdominal pain (OR = 0.52, 95% CI 0.27-1.00, ascites (OR = 0.26, 95% CI 0.09-0.69, and low hemoglobin (OR = 0.46, 95% CI 0.25-0.86 level on admission. Conclusions: Though thrombocytopenia on admission was associated with the presence of rash, high AST and ALT levels, and low albumin levels, it was not predictive of length of

  19. Fatal dengue hemorrhagic fever in adults: emphasizing the evolutionary pre-fatal clinical and laboratory manifestations.

    Directory of Open Access Journals (Sweden)

    Ing-Kit Lee

    Full Text Available BACKGROUND: A better description of the clinical and laboratory manifestations of fatal patients with dengue hemorrhagic fever (DHF is important in alerting clinicians of severe dengue and improving management. METHODS AND FINDINGS: Of 309 adults with DHF, 10 fatal patients and 299 survivors (controls were retrospectively analyzed. Regarding causes of fatality, massive gastrointestinal (GI bleeding was found in 4 patients, dengue shock syndrome (DSS alone in 2; DSS/subarachnoid hemorrhage, Klebsiella pneumoniae meningitis/bacteremia, ventilator associated pneumonia, and massive GI bleeding/Enterococcus faecalis bacteremia each in one. Fatal patients were found to have significantly higher frequencies of early altered consciousness (≤24 h after hospitalization, hypothermia, GI bleeding/massive GI bleeding, DSS, concurrent bacteremia with/without shock, pulmonary edema, renal/hepatic failure, and subarachnoid hemorrhage. Among those experienced early altered consciousness, massive GI bleeding alone/with uremia/with E. faecalis bacteremia, and K. pneumoniae meningitis/bacteremia were each found in one patient. Significantly higher proportion of bandemia from initial (arrival laboratory data in fatal patients as compared to controls, and higher proportion of pre-fatal leukocytosis and lower pre-fatal platelet count as compared to initial laboratory data of fatal patients were found. Massive GI bleeding (33.3% and bacteremia (25% were the major causes of pre-fatal leukocytosis in the deceased patients; 33.3% of the patients with pre-fatal profound thrombocytopenia (<20,000/µL, and 50% of the patients with pre-fatal prothrombin time (PT prolongation experienced massive GI bleeding. CONCLUSIONS: Our report highlights causes of fatality other than DSS in patients with severe dengue, and suggested hypothermia, leukocytosis and bandemia may be warning signs of severe dengue. Clinicians should be alert to the potential development of massive GI bleeding

  20. [The extrahepatic site of hepatitis C virus: clinical manifestations and prognostic value].

    Science.gov (United States)

    Krel', P E; Tsinzerling, O D

    2009-01-01

    The high incidence of recurrent chronic hepatitis C after a course of antiviral therapy determines the urgency of determining the extrahepatic reservoirs of hepatitis C virus (HCV). The most extrahepatic site for the virus is peripheral mononuclear cells (PMC). Assuming that there may be HCV replication in the PMC), these cells can be considered as a potential reservoir of HCV infection. The most common extrahepatic manifestation of HCV is cryoglobulinemia, the genesis of which may be active viral replication in the cells of the immune system. There is evidence that HCV is detectable just in the tissues of the involved organs. Thus, most systemic manifestations may be directly associated with extrahepatic HCV replication.

  1. Immune reconstitution inflammatory syndrome in HIV-infected patients receiving antiretroviral therapy : pathogenesis, clinical manifestations and management

    DEFF Research Database (Denmark)

    Dhasmana, Devesh J; Dheda, Keertan; Ravn, Pernille;

    2008-01-01

    The use of antiretroviral therapy (ART) to treat HIV infection, by restoring CD4+ cell count and immune function, is associated with significant reductions in morbidity and mortality. Soon after ART initiation, there is a rapid phase of restoration of pathogen-specific immunity. In certain patients...... to a heterogeneous range of clinical manifestations. The commonest forms of IRIS are associated with mycobacterial infections, fungi and herpes viruses. In most patients, ART should be continued and treatment for the associated condition optimized, and there is anecdotal evidence for the use of corticosteroids...... in patients who are severely affected. In this review, we discuss research relating to pathogenesis, the range of clinical manifestations, treatment options and prevention issues....

  2. Clinical guideline for diagnosis and management of melioidosis

    Directory of Open Access Journals (Sweden)

    Inglis Timothy J.J.

    2006-01-01

    Full Text Available Melioidosis is an emerging infection in Brazil and neighbouring South American countries. The wide range of clinical presentations include severe community-acquired pneumonia, septicaemia, central nervous system infection and less severe soft tissue infection. Diagnosis depends heavily on the clinical microbiology laboratory for culture. Burkholderia pseudomallei, the bacterial cause of melioidosis, is easily cultured from blood, sputum and other clinical samples. However, B. pseudomallei can be difficult to identify reliably, and can be confused with closely related bacteria, some of which may be dismissed as insignificant culture contaminants. Serological tests can help to support a diagnosis of melioidosis, but by themselves do not provide a definitive diagnosis. The use of a laboratory discovery pathway can help reduce the risk of missing atypical B. pseudomallei isolates. Recommended antibiotic treatment for severe infection is either intravenous Ceftazidime or Meropenem for several weeks, followed by up to 20 weeks oral treatment with a combination of trimethoprim-sulphamethoxazole and doxycycline. Consistent use of diagnostic microbiology to confirm the diagnosis, and rigorous treatment of severe infection with the correct antibiotics in two stages; acute and eradication, will contribute to a reduction in mortality from melioidosis.

  3. Cardiac tamponade as an initial manifestation of systemic lupus erythematosus.

    Science.gov (United States)

    Carrion, Diego M; Carrion, Andres F

    2012-06-12

    Clinical manifestations of pericardial disease may precede other signs and symptoms associated with systemic lupus erythematosus. Although pericardial effusion is one of the most common cardiac problems in patients with systemic lupus erythematosus, haemodynamically significant effusions manifesting as cardiac tamponade are rare and require prompt diagnosis and treatment.

  4. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kimonis, V.E.; Yang, M.L.; Bale, S.J. [National Institute of Arthritis and Musculoskeletal and Skin Disease, Bethesda, MD (United States)] [and others

    1997-03-31

    Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri. We reviewed the findings on 105 affected individuals examined at the NIH since 1985. The data included 48 males and 57 females ranging in age from 4 months to 87 years. Eighty percent of whites (71/90) and 38% (5/13) of African-Americans had at least one basal cell carcinoma (BCC), with the first tumor occurring at a mean age of 23 (median 20) years and 21 (median 20) years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to >1,000 (median 8) and 1 to 3 (median 2), respectively, in the 2 groups. Jaw cysts occurred in 78/105 (74%) with the first tumor occurring in 80% by the age of 20 years. The number of total jaw cysts ranged from 1 to 28 (median 3). Palmar pits and plantar pits were seen in 87%. Ovarian fibromas were diagnosed by ultrasound in 9/52 (17%) at a mean age of 30 years. Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings include {open_quotes}coarse face{close_quotes} in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity in 11%. This study delineates the frequency of the clinical and radiological anomalies in NBCC in a large population of US patients and discusses guidelines for diagnosis and management. 48 refs., 3 figs., 5 tabs.

  5. Paediatric manifestations of Langerhans cell histiocytosis: a review of the clinical and radiological findings

    Energy Technology Data Exchange (ETDEWEB)

    Kilborn, T.N.; Teh, J.; Goodman, T.R

    2003-04-01

    Langerhans cell histiocytosis is a rare disease in children. However, its ability to present in many ways, to mimic other conditions, and to manifest itself in many organs makes it a fascinating disease for radiologists. This article reviews the history of the disease, the features that are most useful in determining prognosis, and the various radiological findings seen in paediatric patients.

  6. Enigmatic human tails: A review of their history, embryology, classification, and clinical manifestations.

    Science.gov (United States)

    Tubbs, R Shane; Malefant, Jason; Loukas, Marios; Jerry Oakes, W; Oskouian, Rod J; Fries, Fabian N

    2016-05-01

    The presence of a human tail is a rare and intriguing phenomenon. While cases have been reported in the literature, confusion remains with respect to the proper classification, definition, and treatment methods. We review the literature concerning this anatomical derailment. We also consider the importance of excluding underlying congenital anomalies in these patients to prevent neurological deficits and other abnormal manifestations.

  7. [Clinical guideline for detection and diagnosis of hypertensive pregnancy disease].

    Science.gov (United States)

    Lagunes-Espinosa, Alma Luisa; Ríos-Castillo, Brenda; Peralta-Pedrero, María Luisa; del Rocío Cruz-Cruz, Polita; Sánchez-Ambríz, Slivia; Sánchez-Santana, Joaquín Renato; Ramírez-Mota, Carolina; Zavaleta-Vargas, Norma Octavia; López-Cisneros, Gabriela

    2011-01-01

    Hypertensive disorders in pregnancy (HDP) are the main complication and cause of maternal and perinatal death. Pre-eclampsia represents a 34%, according to the Secretaría de Salud de México. To offer the family physicians tools for the opportune detection and diagnosis of HDP a clinical guideline was developmented. Clinical questions were formulated and structured. A standardized sequence to search for Practice Guidelines, based on the key words: hypertensive disorders in pregnancy, pre-eclampsia. Tripdatabase, MDConsult, National Guideline Clearinghouse, Scottish Intercollegiate Guidelines Network, National Institute for Health and Clinical Excellence were used. In addition, Cochrane Library Plus, Science Direct and OVID were used. Most of the recommendations were taken from guidelines selected and supplemented with the remaining material. The information is expressed in levels of evidence and grade of recommendation according to the characteristics of the study design and type of publications. To reduce morbidity and mortality from HDP health professionals should identify risk factors; conduct a close monitoring and early diagnosis. It is essential to provide information to the pregnant patient on alarm data and behavior to follow. This clinical practice guide offers current evidence for screening and diagnosis of HDP in primary care.

  8. Clinical findings in 16 patients with tomographic diagnosis of schizencephaly

    Energy Technology Data Exchange (ETDEWEB)

    Rodrigues, Maria do Carmo de Souza [Universidade Federal do Espirito Santo, Vitoria, ES (Brazil). Hospital Universitario Cassiano Antonio Moraes]. E-mail: rodriguesmcs@yahoo.com.br; Monteiro, Alexandra Maria Vieira [Universidade do Estado do Rio de Janeiro, RJ (Brazil). Faculdade de Ciencias Medicas; Llerena Junior, Juan Clinton [Fundacao Oswaldo Cruz, Rio de Janeiro, RJ (Brazil). Instituto Fernandes Figueira. Centro de Genetica Medica; Fernandes, Alexandre Ribeiro [Universidade Gama Filho, Rio de Janeiro, RJ (Brazil). Dept. de Pediatria

    2006-09-15

    Objective: to establish a correlation between clinical features in a group of children with tomographic diagnosis of schizencephaly and clefts extent and localization. Materials and methods: retrospective study of dossiers from the archives of Neurology and Medical Genetics Services at Instituto Fernandes Figueira/FIOCRUZ and Hospital Municipal Jesus, Rio de Janeiro, RJ, Brazil, in the period between 2000 and 2003. The study included 16 patients, nine female and seven male, with tomographic diagnosis of schizencephaly investigated for clinical findings, psychomotor development, motor/cognitive deficits and epilepsy. Results: predominance of bilateral clefts in 10:16 patients, open-lip schizencephaly type in 23:27 patients, and small lips in 11:27 patients. As regards anomalies associated with schizencephaly, pellucid septum absence was the most frequent one (10:16 patients). As regards clinical findings, 15 patients presented with developmental delay and motor deficit, six patients with cognitive deficit and ten with epilepsy. In three patients, we observed discordant clinical findings and cleft sizes, although the clefts were small, the clinical features severity was high because of other cerebral anomalies. Conclusion: the clinical features of schizencephaly are related to the size of the clefts, regardless laterality, presenting higher severity when associated with other cerebral anomalies. (author)

  9. [The clinical immunology laboratory in diagnosis and monitoring of systemic lupus erythematosus and connective tissue diseases].

    Science.gov (United States)

    Sinico, R A; Radice, A

    2005-01-01

    The laboratory and particularly clinical immunology laboratories have an essential role in diagnosing and monitoring systemic lupus erythematosus (SLE), as well as other connective tissue diseases. The role of the clinical immunology laboratory in these diseases is to confirm or exclude diagnosis, to monitor disease activity, and to identify subgroup of patients. To obtain the best results in terms of diagnostic performance and clinical usefulness, the following recommendations should be fulfilled: anti-nuclear antibodies (ANA) determination by indirect immunofluorescence on Hep-2 cells is an effective screening assay in patients with clinical features of SLE. A negative ANA test makes the diagnosis of SLE unlikely. Anti-dsDNA antibodies are highly specific for SLE and are associated with renal involvement. The method of choice for anti-dsDNA is the Farr assay; however, the necessity of using radioactive materials reduces its applicability. As an alternative, immunofluorescence on Crithidia Luciliae can be used in the diagnostic phase due to its high specificity. The detection of antibodies to extractable nuclear antigens (ENA) and to phospholipids (lupus anticoagulant and anti-cardiolipin antibodies) is useful in identifying subgroups of patients at risk for some clinical manifestations. Anti-dsDNA measurement with a quantitative assay (the Farr assay or ELISA) is currently the best method to monitor disease activity along with complement levels. New assays (anti-C1q and anti-nucleosome antibodies) have been recently proposed for the diagnosis (anti-nucleosome) and monitoring of SLE patients (anti-C1q and anti-nucleosome antibodies), with promising results.

  10. The role of fluorescence diagnosis in clinical practice

    Directory of Open Access Journals (Sweden)

    Sieroń A

    2013-07-01

    Full Text Available Aleksander Sieroń,1 Karolina Sieroń-Stołtny,1 Aleksandra Kawczyk-Krupka,1 Wojciech Latos,1 Sebastian Kwiatek,1 Dariusz Straszak,1 Andrzej M Bugaj1,2 1Clinical Department of Internal Diseases, Angiology and Physical Medicine, Center for Laser Diagnostics and Therapy, Silesian Medical University, Bytom, 2College of Health, Beauty Care and Education, Poznan, Poland Abstract: Fluorescence diagnosis is a fast, easy, noninvasive, selective, and sensitive diagnostic tool for estimation of treatment results in oncology. In clinical practice the use of photodynamic diagnosis is focused on five targets: detection for prevention of malignant transformation precancerous changes, detection of neoplasmatic tissue in the early stages for fast removal, prevention of expansion and detection of recurrence of the cancer, monitoring therapy, and the possibility of excluding neoplasmatic disease. In this article, selected applications of fluorescence diagnosis at the Center for Laser Diagnostics and Therapy in Bytom, Poland, for each of these targets are presented. Keywords: autofluorescence, cancer, fluorescence, imaging, photodynamic diagnosis, photodynamic therapy 

  11. Petechial Hemorrhage: A clinical diagnosis of neonatal Thrombocytopenia and sepsis

    Directory of Open Access Journals (Sweden)

    Deepak Kumar sharma

    2015-02-01

    Full Text Available A preterm female baby with birth weight of 1.5kg was referred to our hospital on day 6 for difficulty in breathing. Baby was admitted at birth for respiratory distress and feed intolerance to other hospital and in view of clinical deterioration baby was referred. Baby had thrombocytopenia with platelets counts of 11000/ mm3 and high CRP titer. Baby had petechial haemorrhagic spots all over the body with hepatosplenomegaly and sclerema (figure 1,2,3. Baby further platelets counts were 3000, 43000, 67000 and then normal. Baby was managed with antibiotics and platelets transfusion. Gradually baby counts improved and petechial spots disappeared. Discussion Neonatal Sepsis is a common complication in the neonatal intensive care unit. It is most common in the smallest and most premature infants in whom the clinical presentation can be subtle and nonspecific. Thrombocytopenia is the common manifestation of neonatal sepsis in sick babies(1. The manifestation can be seen in newborn as petechial spots over the body with predominance over chest and abdomen(2.Thrombocytopenia is seen in 18% to 35% of NICU patients, and in 73% of extremely low birth weight (ELBW infants(3. Bacterial,fungal and viral infection causes thrombocytopenia. Infection causes damage to vascular endothelium which increases the destruction of platelets and there removal by reticuloendothelial system(4

  12. Petechial Hemorrhage: A clinical diagnosis of neonatal Thrombocytopenia and sepsis

    Directory of Open Access Journals (Sweden)

    Deepak sharma

    2015-02-01

    Full Text Available A preterm female baby with birth weight of 1.5kg was referred to our hospital on day 6 for difficulty in breathing. Baby was admitted at birth for respiratory distress and feed intolerance to other hospital and in view of clinical deterioration baby was referred. Baby had thrombocytopenia with platelets counts of 11000/ mm3 and high CRP titer. Baby had petechial haemorrhagic spots all over the body with hepatosplenomegaly and sclerema (figure 1,2,3. Baby further platelets counts were 3000, 43000, 67000 and then normal. Baby was managed with antibiotics and platelets transfusion. Gradually baby counts improved and petechial spots disappeared. DiscussionNeonatal Sepsis is a common complication in the neonatal intensive care unit. It is most common in the smallest and most premature infants in whom the clinical presentation can be subtle and nonspecific. Thrombocytopenia is the common manifestation of neonatal sepsis in sick babies(1. The manifestation can be seen in newborn as petechial spots over the body with predominance over chest and abdomen(2.Thrombocytopenia is seen in 18% to 35% of NICU patients, and in 73% of extremely low birth weight (ELBW infants(3. Bacterial,fungal and viral infection causes thrombocytopenia. Infection causes damage to vascular endothelium which increases the destruction of platelets and there removal by reticuloendothelial system(4

  13. [Clinical symptomps, diagnosis and therapy of feline allergic dermatitis].

    Science.gov (United States)

    Favrot, C; Rostaher, A; Fischer, N

    2014-07-01

    Allergies are often suspected in cats and they are mainly hypersensitivity reactions against insect bites, food- or environmental allergens. Cats, with non flea induced atopic dermatitis, normally present with one oft he following reaction patterns: miliary dermatitis, eosinophilic dermatitis, selfinduced alopecia or head and neck excoriations. None of these reaction patterns is nevertheless pathognomonic for allergic dermatitis, therefore the diagnosis is based on the one hand on the exclusion of similar diseases on the other hand on the successful response on a certain therapy. Recently a study on the clinical presentation of cats with non flea induced atopic dermatitis was published. In this study certain criteria for diagnosing atopy in cats were proposed. For therapy of allergic cats cyclosporin, glucocorticoids, antihistamines, hypoallergenic diets and allergen specific immunotherapy are used. This article should provide a recent overview on the clinical symptoms, diagnosis and therapy of feline allergic dermatitis.

  14. Alopecia areata: Clinical presentation, diagnosis, and unusual cases.

    Science.gov (United States)

    Finner, Andreas M

    2011-01-01

    Alopecia areata (AA) is a nonscarring hair loss disorder with a 2% lifetime risk. Most patients are below 30 years old. Clinical types include patchy AA, AA reticularis, diffuse AA, AA ophiasis, AA sisiapho, and perinevoid AA. Besides scalp and body hair, the eyebrows, eyelashes, and nails can be affected. The disorder may be circumscribed, total (scalp hair loss), and universal (loss of all hairs). Atopy, autoimmune thyroid disease, and vitiligo are more commonly associated. The course of the disease is unpredictable. However, early, long-lasting, and severe cases have a less favorable prognosis. The clinical diagnosis is made by the aspect of hairless patches with a normal skin and preserved follicular ostia. Exclamations mark hairs and a positive pull test signal activity. Dermoscopy may reveal yellow dots. White hairs may be spared; initial regrowth may also be nonpigmented. The differential diagnosis includes trichotillomania, scarring alopecia, and other nonscarring hair loss disorders such as tinea capitis and syphilis.

  15. Suspected pulmonary embolism and deep venous thrombosis: A comprehensive MDCT diagnosis in the acute clinical setting

    Energy Technology Data Exchange (ETDEWEB)

    Salvolini, Luca [Radiology Department, ' Umberto I' Hospital - Ospedali Riuniti - ' Politecnica delle Marche' University, Via Conca, 60020 Ancona (Italy)], E-mail: lucasalvolini@alice.it; Scaglione, Mariano [Emergency and Trauma CT Section, Department of Radiology, Cardarelli Hospital, Via G. Merliani 31, 80127 Naples (Italy); Giuseppetti, Gian Marco; Giovagnoni, Andrea [Radiology Department, ' Umberto I' Hospital - Ospedali Riuniti - ' Politecnica delle Marche' University, Via Conca, 60020 Ancona (Italy)

    2008-03-15

    Both pulmonary arterial and peripheral venous sides of venous thromboembolism (VTE) can now be efficiently and safely investigated by multi-detector CT (MDCT) at the same time by a combined CT angiography/CT venography protocol. In the emergency setting, the use of such a single test for patients suspected of suffering from VTE on a clinical grounds may considerably shorten and simplify diagnostic algorithms. The selection of patients to be submitted to MDCT must follow well-established clinical prediction rules in order to avoid generalized referral to CT on a generic clinical suspicion basis and excessive population exposure to increased ionizing radiation dose, especially in young patients. Clinical and anatomical wide-panoramic capabilities of MDCT allow identification of underlying disease that may explain patients' symptoms in a large number of cases in which VTE is not manifest. The analysis of MDCT additional findings on cardiopulmonary status and total thrombus burden can lead to better prognostic stratification of patients and influence therapeutic options. Some controversial points such as optimal examination parameters, clinical significance of subsegmentary emboli, CT pitfalls and/or possible falsely positive diagnoses, and outcome of untreated patients in which VTE has been excluded by MDCT without additional testing, must of course be taken into careful consideration before the definite role of comprehensive MDCT VTE 'one-stop-shop' diagnosis in everyday clinical practice can be ascertained.

  16. The Prevalence of Anticardiolipin Antibody in Patients with Systemic Lupus Erythematosus and Its Association with Clinical Manifestations

    Directory of Open Access Journals (Sweden)

    Zahra Basiri

    2013-01-01

    Full Text Available The central immunological disturbance in systemic lupus erythematosus (SLE is autoantibody production. Some of these antibodies affecting components of the cell nucleus are the major characteristics of SLE. The present study was aimed to assess importance of anticardiolipin (ACL antibody and its association with clinical state in SLE patients. A cross sectional study was performed on 100 patients with SLE referred to rheumatology outpatient clinic in Ekbatan hospital in Hamadan (Iran between 2007 and 2008. Serum samples were extracted and screened for IgG and IgM using an ACL enzyme-linked immunosorbent assay. Up to 36% of patients were positive for ACL antibody that was more frequent in women than men (39.8% versus 8.3%. No association was revealed between ACL antibody and age. Clinical manifestations of antiphospholipid antibody syndrome were observed in 23.0% of patients that was more prevalent in ACL positive group compared with ACL negative group (41.7% versus 125%. The prevalence of other manifestations including pregnancy-related disorders (recurrent abortion, central nervous system defects, and deep vein thrombosis was 33.3%, 25.0%, and 30.6% in ACL positive group and was 9.4%, 7.8%, and 7.8% in ACL negative group that all were more frequent in the former group. The prevalence of thrombocytopenia was also higher in ACL positive group than another group (22.2% versus 15.6%. Among ACL positive patients with clinical manifestations of antiphospholipid antibody syndrome, 86.6% had medium to high titer of ACL. Our study emphasized value of (ACL antibody to assess clinical status in SLE patients

  17. Clinical aspects of personality disorder diagnosis in the DSM-5

    OpenAIRE

    Francesco Modica

    2015-01-01

    Abstract: Personality disorders represent psychopathological conditions hard to be diagnosed. The Author highlights the clinical aspects of personality disorder diagnosis according to the criteria of the DSM-5. In this study, some of the numerous definitions of personality are mentioned; afterwards, some of the theories on the development of personality shall be. Later on, concepts of temperament, character and personality get analysed. Then, the current approach to personality disorders acco...

  18. Disease history and medication use as risk factors for the clinical manifestation of type 1 diabetes in children and young adults: an explorative case control study.

    Directory of Open Access Journals (Sweden)

    Soulmaz Fazeli Farsani

    Full Text Available BACKGROUND: There is a highly variable asymptomatic period of beta cell destruction prior to the clinical presentation of type1 diabetes. It is not well known what triggers type 1 diabetes to become a clinically overt disease. This explorative study aimed to identify the association between disease history/medication use and the clinical manifestation of type 1 diabetes. METHODOLOGY/PRINCIPAL FINDINGS: An explorative case control study was conducted in the Dutch PHARMO Record Linkage System. Cases (n = 1,107 were younger than 25 years and had at least 2 insulin prescriptions between 1999 and 2009. For each case, up to 4 controls (without any prescription for the glucose lowering medications (n = 4,424 were matched by age and sex. Conditional logistic regression analysis was used to evaluate the association between disease history/medication use in the year prior to the diagnosis of type 1 diabetes and clinical manifestation of this disease. Type1 diabetes was significantly associated with a history of mental disorder (odds ratio (OR 8.0, 95% confidence interval (CI 1.5-43.7, anemia (OR 5.1, 95% CI 1.1-22.9, and disease of digestive system (OR 2.6, 95% CI 1.2-5.5. The following drug exposures were significantly associated with the clinical manifestation of type 1 diabetes: "systemic hormonal preparations" (OR 1.7, 95% CI 1.1-2.6, medications for "blood and blood forming organs" (OR 1.6, 95% CI 1.1-2.6, "alimentary tract and metabolism" (OR 1.3, 95% CI 1.1-1.6, and "anti-infectives for systemic use" (OR 1.2, 95% CI 1.01-1.4. CONCLUSIONS: Our explorative study demonstrated that in the year prior to the presentation of type 1 diabetes in children and young adults, hospitalization for a diverse group of diseases and drug exposures were significantly more prevalent compared with age- and sex-matched diabetes-free controls.

  19. Filaria associated clinical manifestations in children in an endemic area and morbidity control by immunomonitoring and optimal DEC therapy: Sevagram experience.

    Science.gov (United States)

    Harinath, B C; Reddy, M V; Bhunia, B; Bhandari, Y P; Mehta, V K; Chaturvedi, P; Prajapati, N C; Gupta, R K

    2000-08-01

    Lymphatic filariasis is a major public health problem in India with 412 million people living in bancroftian endemic areas and is a major cause of clinical morbidity. Twenty million people are reported to suffer from chronic disease manifestations such as lymphoedema, hydrocele or elephantiasis. At least twice the number have been shown to suffer from acute and occult filarial infections in an endemic area without diagnosis. Due to non-availability of suitable diagnostic test for confirming filaria aetiology other than parasitological examination, no significant study on filariasis in children has been reported earlier. Studies in our laboratory for more than a decade showed usefulness of microfilarial excretory-secretory antigen in confirming filarial aetiology in acute and occult infections in adults as well as in children. This study reports acute and atypical manifestations such as lymphadenopathy, asthmatic bronchitis, pulmonary eosinophilia, mono-arthritis, recurrent URI, pneumonia, nutritional anemia, pain in abdomen etc. in children living in filaria endemic area having no microfilaraemia but showing filaria aetiology by immunomonitoring for the presence of antibody or antigen and responding to optimal DEC therapy.

  20. Acute Respiratory Distress Syndrome as the Initial Clinical Manifestation of an Antisynthetase Syndrome

    Science.gov (United States)

    Kim, Seo-Hyun

    2016-01-01

    Antisynthetase syndrome has been recognized as an important cause of autoimmune inflammatory myopathy in a subset of patients with polymyositis and dermatomyositis. It is associated with serum antibody to aminoacyl-transfer RNA synthetases and is characterized by a constellation of manifestations, including fever, myositis, interstitial lung disease, mechanic's hand-like cutaneous involvement, Raynaud phenomenon, and polyarthritis. Lung disease is the presenting feature in 50% of the cases. We report a case of a 60-year-old female with acute respiratory distress syndrome (ARDS), which later proved to be an unexpected and initial manifestation of anti-Jo-1 antibody–positive antisynthetase syndrome. The present case showed resolution of ARDS after treatment with high-dose corticosteroids. Given that steroids are not greatly beneficial in the treatment of ARDS, it is likely that the improvement of the respiratory symptoms in this patient also resulted from the prompt suppression of the inflammatory systemic response by corticosteroids. PMID:27433180

  1. Piriformis syndrome in fibromyalgia: clinical diagnosis and successful treatment.

    Science.gov (United States)

    Siddiq, Md Abu Bakar; Khasru, Moshiur Rahman; Rasker, Johannes J

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

  2. Piriformis Syndrome in Fibromyalgia: Clinical Diagnosis and Successful Treatment

    Directory of Open Access Journals (Sweden)

    Md Abu Bakar Siddiq

    2014-01-01

    Full Text Available Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

  3. [Artificial intelligence to assist clinical diagnosis in medicine].

    Science.gov (United States)

    Lugo-Reyes, Saúl Oswaldo; Maldonado-Colín, Guadalupe; Murata, Chiharu

    2014-01-01

    Medicine is one of the fields of knowledge that would most benefit from a closer interaction with Computer studies and Mathematics by optimizing complex, imperfect processes such as differential diagnosis; this is the domain of Machine Learning, a branch of Artificial Intelligence that builds and studies systems capable of learning from a set of training data, in order to optimize classification and prediction processes. In Mexico during the last few years, progress has been made on the implementation of electronic clinical records, so that the National Institutes of Health already have accumulated a wealth of stored data. For those data to become knowledge, they need to be processed and analyzed through complex statistical methods, as it is already being done in other countries, employing: case-based reasoning, artificial neural networks, Bayesian classifiers, multivariate logistic regression, or support vector machines, among other methodologies; to assist the clinical diagnosis of acute appendicitis, breast cancer and chronic liver disease, among a wide array of maladies. In this review we shift through concepts, antecedents, current examples and methodologies of machine learning-assisted clinical diagnosis.

  4. [Clinical research II. Studying the process (the diagnosis test)].

    Science.gov (United States)

    Talavera, Juan O; Wacher-Rodarte, Niels H; Rivas-Ruiz, Rodolfo

    2011-01-01

    A diagnosis test is carried out to establish the presence of health or illness. In the latter it could grade the severity. Due to its importance in clinical decisions, the diagnosis test is evaluated by mathematical strategies. We estimate the sensitivity and specificity once we know the existence or not of the disease, but we act in the reverse direction; with the presence "X" test positive or negative we estimate the presence of the disease, therefore, we use the positive and negative predictive values. Mathematical strategy allow us to quantify the observation, but it requires judgment to determine the quality making use of a minimum of features: a) selection under the same criteria for cases and controls; b) the inclusion of the full spectrum of disease severity (from mild to the most serious, ensuring that all levels have an enough number of subjects); c) the interpretation of both, the gold standard and the new tool of diagnosis, it must be blind and conducted by experts; d) the interpretation of results should show us what is their application in everyday clinical practice; e) the reproducibility must be checked. Do not forget that usually, we treat only one patient at once, what enforce us to have full knowledge of the performance of the diagnostic test, and to consider all clinical aspects for its proper implementation.

  5. Preoperative diagnosis of pelvic actinomycosis by clinical cytology

    Directory of Open Access Journals (Sweden)

    Matsuda K

    2012-09-01

    Full Text Available Katsuya Matsuda,1 Hisayoshi Nakajima,2 Khaleque N Khan,1 Terumi Tanigawa,1 Daisuke Hamaguchi,1 Michio Kitajima,1 Koichi Hiraki,1 Shingo Moriyama,3 Hideaki Masuzaki11Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, 2Department of Health Sciences, Nagasaki University Graduate School of Biomedical Sciences, 3Shimabara Maternity Clinic, Nagasaki, JapanBackground: The purpose of this work was to investigate whether clinical cytology could be useful in the preoperative diagnosis of pelvic actinomycosis.Methods: This study involved the prospective collection of samples derived from the endometrium and the uterine cervix, and retrospective data analysis. Nine patients with clinically diagnosed pelvic actinomycosis were enrolled. The clinical and hematological characteristics of patients were recorded, and detection of actinomyces was performed by cytology, pathology, and bacteriological culture of samples and by imprint intrauterine contraceptive device (IUD cytology.Results: The detection rate of actinomyces was 77.7% by combined cervical and endometrial cytology, 50.0% by pathology, and 11.1% by bacterial culture.Conclusion: The higher detection rate of actinomyces by cytology than by pathology or bacteriology suggests that careful cytological examination may be clinically useful in the preoperative diagnosis of pelvic actinomycosis.Keywords: actinomycosis, cytology, pathology, intrauterine contraceptive device, pelvic inflammatory disease

  6. [Intersticial lung disease as the sole manifestation of antisynthetase syndrome].

    Science.gov (United States)

    Monteiro, Paulo; Coutinho, Margarida; Machado, Pedro; Garcia, Jorge; Salvador, Maria João; Inês, Luís; Silva, Jorge; Malcata, Armando

    2009-01-01

    The authors report a clinical case of a woman who had a 3 years diagnosis of hipersensitivity pneumonitis based on intersticial lung disease without other manifestations. The diagnosis of antisynthetase syndrome was made three years after the initial symptoms upon the onset of systemic manifestations with articular involvement, myositis and determination of anti-PL 7 antibodies. In this syndrome, the isolated pulmonary involvement is rare.

  7. Cutaneous manifestations of human toxocariasis.

    Science.gov (United States)

    Gavignet, Béatrice; Piarroux, Renaud; Aubin, François; Millon, Laurence; Humbert, Philippe

    2008-12-01

    Human toxocariasis is a parasitic disease characterized by the presence of larvae of the genus Toxocara in human tissues. T canis and T cati, the adult roundworms of which are found in dog and cat intestines, respectively, are the most common causative agents of the disease. Toxocaral larvae usually cause two severe syndromes: visceral larva migrans and ocular larva migrans, depending on the location of the larvae. Two other syndromes, covert toxocariasis and common toxocariasis, which are less typical and not as severe, have also been described. During the last two decades, cutaneous manifestations such as chronic urticaria, chronic pruritus, and miscellaneous eczema, in patients with Toxocara antibodies, have been studied by different authors. In some cases, these cutaneous manifestations are the only signs indicating the presence of the disease, and they are cured after antihelmintic treatment when there is good patient compliance. In this review, we focus on these particular skin manifestations regarding their clinical description, diagnosis, and treatment.

  8. Clinical Analysis of 3 Cases with Abdominal Distension as the Main Manifestation of Kawasaki Disease%3例以腹胀为首发表现川崎病的临床特点分析

    Institute of Scientific and Technical Information of China (English)

    徐凤琴; 毕良学; 杨泽玉

    2013-01-01

    Objective To analysis clinical features of Kawasaki disease (KD) with abdomen distension as the main manifestations, and offer references to clinical diagnosis. Methods Analyze clinical information of 3 cases with KD, to understand especial clinical appearance of KD presented abdomen distension as the main manifestations. Results All the 3 cases of abdominal distension accompanied by fever, and abdomen distension was the first clinical manifestation. Conclusion The individual difference of clinical symptoms for KD was great , children with abdominal distension and fever of unknown origin probably be considered as KD.%  目的分析以腹胀为主要表现川崎病的临床特点,为不完全川崎病的诊断提供参考。方法对3例川崎病患儿病例资料进行综合分析,了解腹胀为主要甚至首发表现的川崎病临床特点。结果3例川崎病患儿腹胀伴有发热,腹胀为首要临床表现。结论川崎病临床症状个体差异变化很大,腹胀并有不明原因发热的患儿应该考虑川崎病的可能。

  9. [Clinical and angiographic manifestations inpatients without previous diagnosis of Takayasu´s arteritis].

    Science.gov (United States)

    Hernández-González, Claudia; López-Flores, Luis Antonio; Sánchez-González, Mariela; Vera-Lastra, Olga Lidia

    2015-01-01

    Introducción: la arteritis de Takayasu (AT) es una vasculitis sistémica que afecta a la aorta y sus ramas principales, se distingue por disminución o ausencia de pulsos. La arteriografía corrobora el diagnóstico de AT. El objetivo de este estudio es analizar las manifestaciones clínicas y hallazgos arteriográficos en pacientes sin diagnóstico previo de AT.Métodos: se estudiaron 10 pacientes enviadas al Departamento de Radiodiagnóstico para la realización de panangiografía por enfermedad cerebrovascular (EVC) en pacientes jóvenes, hipertensión renovascular (HRV) e insuficiencia arterial (IA) de alguna extremidad. Se investigaron manifestaciones clínicas orientadas al diagnóstico de AT y se realizó arteriografía con sustracción digital y ultrasonido Doppler color. A las pacientes se les realizó el diagnóstico de AT y por arteriografía se usó la clasificación de Numano.Resultados: la EVC en paciente joven se encontró en 4 casos, HRV en 3, e IA de las extremidades superiores en 3. Por arteriografía los tipos de AT fueron I: 50 %, V: 40 % y IV 10 %. La afección principal se demostró en los tronco supraaórticos y de estos las carótidas 80 %, subclavia derecha 80 %, subclavia izquierda 70 %, vertebral izquierda 40 %, vertebral derecha 30 %, aorta abdominal 40 %, renal derecha 40 % y renal izquierda 10 %.Conclusión: las manifestaciones clínicas más comunes fueron: EVC, HRV e IA de las extremidades superior. La AT tipo I fue la más frecuente y explica las manifestaciones de EVC, seguida de la tipo V.

  10. Coxarthrosis and periarticular pathology of the hip: clinical manifestations, diagnosis, approaches to therapy

    Directory of Open Access Journals (Sweden)

    Nadezhda Aleksandrovna Shostak

    2012-03-01

    Full Text Available Osteoarthrosis (OA is the most common joint disease affecting both men and men. There is primary and secondary OA. Up to now, the causes of primary OA remain unclear. Secondary OA is associated with the presence of joint injury in the history, with congenital anomalies of the structure, metabolic diseases, endocrinopathies, etc. It is particularly difficult to interpret coxarthrosis if there are signs offemoroacetabular impingement. Periarticular pathology plays an important role in the origin of the hip pain syndrome that accompanies or mimics the symptoms of coxarthrosis. The main goals of OA therapy are to slow down the progression of cartilage degeneration and to maintain joint function as much as possible. Combination drugs containing chondroitin sulfate and glucosamine hydrochloride are widely used to treat OA today.

  11. Paresis of cranial nerves III, IV, and VI: clinical manifestation and differential diagnosis.

    Science.gov (United States)

    Carlow, T J

    1989-01-01

    Successful identification of the cranial nerve and ocular muscle responsible for a subjective complaint of diplopia requires an evaluation of the type and character of the double vision and not infrequently the use of a red glass or Maddox rod, especially in incomplete and subtle cases. An isolated third nerve lesion is most commonly seen with a supraclinoid aneurysm (pupil dilated and fixed), vascular disease (pupil spared), and trauma. Mild frontal head trauma and vascular disease are the most common etiologies associated with an isolated fourth nerve paresis. Tumor, vascular disease and trauma should be prime considerations when a patient presents with an isolated sixth nerve paresis. A child's diagnostic possibilities will differ from the adult: third nerve (congenital), fourth nerve (congenital), and sixth nerve (brainstem glioma, postviral or inflammatory). Finally, myasthenia gravis can readily mask or mimic an isolated or mixed cranial nerve palsy. A Tensilon test is always indicated in unexplained diplopia with ophthalmoplegia and normal pupils.

  12. Meningococcal disease: History, epidemiology, pathogenesis, clinical manifestations, diagnosis, antimicrobial susceptibility and prevention

    Directory of Open Access Journals (Sweden)

    Manchanda V

    2006-01-01

    Full Text Available Meningoccocal disease has repeatedly caused outbreaks worldwide. There has been sudden surge of cases of meningococcemia and meningococcal meningitis in early 2005 in Delhi, India and neighboring states of Uttar Pradesh and Haryana. As of June 17, 2005, 429 probable cases of meningococcal disease have been reported in Delhi out of which 128 cases have revealed microbiological evidence of Neisseria meningitidis . It is possible that the number of cases was in excess of the numbers notified. During this episode drug susceptibility testing by MIC method (E-test using break points recently recommended by NCCLS/CLSI, revealed that all isolates were sensitive to penicillin, ampicillin, rifampicin and ceftriaxone. As regards to ciprofloxacin, about two third of the isolates tested were found to be ′non-susceptible′ (MIC =0.03µg/mL- 0.190µg/mL. All the isolates were found resistant to cotrimoxazole (MIC> 16µg/mL. Repeated outbreaks, decreased susceptibility to ciprofloxacin, which is commonly used for chemoprophylaxis of meningococcal disease, highlights the need for a constant surveillance system. Present review deals with various aspects of Neisseria meningitidis and meningococcal disease in view of recent episode.

  13. Anthracosis of the Lungs: Etiology, Clinical Manifestations and Diagnosis: A Review

    OpenAIRE

    Mirsadraee, Majid

    2014-01-01

    Anthracosis of the lungs is black discoloration of bronchial mucosa that can occlude bronchial lumen and is associated with bronchial anthracofibrosis (BAF). This disease usually presents with a chronic course of dyspnea and or cough in an elderly non-smoker woman or man. In addition, concomitant exposure to dust and wood smoke is the most postulated etiology for anthracosis. Pulmonary function tests usually show an obstructive pattern with no response to bronchodilators and normal DLCO, but ...

  14. 脑干梗死与低场强MRI的表现%Analysis on clinical manifestations and low field MRI features of brainstem infarction

    Institute of Scientific and Technical Information of China (English)

    陈志萍; 吴冬春; 郑列祥

    2012-01-01

    Objective To investigate the clinical manifestations and low field magnetic resonance imaging (MRI) features of brainstem infarction. Methods The clinical characteristics combined with the corresponding low field MRI features of 44 cases with brainstem infarction were analyzed retrospectively. Results Among 44 cases,38 cases showed pons infarction.3 cases suffered midbrain infarction, and 3 cases showed oblongata infarction. The common clinical symptoms and signs were partial body movement disorder, dysarthria and wet cough. All cases had positive effectives in MRI, and MRI manifested their sizes in diameter was mainly of 6~16mm, and the shape was irregular patch. All lesions showed isointensity or short signals on T1WI, high signals on T2WI, high or lowr signals on FLAIR. Conclusion MRI is the most effective method in the diagnosis of brainstem infarction.%目的 探讨脑干梗死的临床表现及低场MRI 的诊断价值.方法 回顾性分析经临床确诊的44 例脑干梗死患者的临床及低场MRI 资料.结果 44 例脑干梗死包括:脑桥梗死38 例,中脑梗死3 例,延髓梗死3 例.临床表现为构音障碍、饮水呛咳、偏身运动障碍等.MRI 显示病灶直径以6~16 mm 为主,形态为不规则斑片状,信号特点为T1WI 呈等或低信号,T2WI 呈高信号,FLAIR 序列呈高或低信号.结论 MRI 是脑干梗死最有效的影像学诊断方法.

  15. Neurological Manifestations In Inflammatory Bowel Disease

    Directory of Open Access Journals (Sweden)

    youssef HNACH

    2015-06-01

    Full Text Available IntroductionThe purpose of this retrospective study was to report neurological manifestations noted in patients who were monitored for inflammatory bowel disease, in order to document the pathophysiological, clinical, progressive, and therapeutic characteristics of this entity.Material and methodsWe conducted a retrospective study on patients monitored -in the gastroenterology service in Ibn Sina Hospital in Rabat, Morocco- for inflammatory bowel disease from 1992 till 2013 and who developed neurological manifestations during its course. Patients with iatrogenic complications were excluded, as well as patients with cerebrovascular risk factors.ResultsThere were 6 patients, 4 of whom have developed peripheral manifestations. Electromyography enabled the diagnosis to be made and the outcome was favorable with disappearance of clinical manifestations and normalization of the electromyography.The other 2 patients, monitored for Crohn’s disease, developed ischemic stroke. Cerebral computed tomography angiography provided positive and topographic diagnosis. Two patients were admitted to specialized facilities.ConclusionNeurological manifestations in inflammatory bowel disease are rarely reported.  Peripheral neuropathies and stroke remain the most common manifestations. The mechanisms of these manifestations are not clearly defined yet. Currently, we hypothesize the interaction of immune mediators.

  16. Thymic Epidermoid Cyst: Clinical and Imaging Manifestations of This Rare Anterior Mediastinal Mass

    Directory of Open Access Journals (Sweden)

    Jawad M. Qureshi

    2016-01-01

    Full Text Available Thymic epidermoid cysts are an extremely rare entity. These arise from epidermal cells that migrate to the thymus. The radiologic diagnosis of this rare lesion is challenging. We describe a case of an otherwise healthy 35-year-old woman who presented with an acute onset of chest pain and shortness of breath. She was found to have an anterior mediastinal mass. The imaging findings were, however, not characteristic for any single diagnostic entity. Since the imaging was inconclusive, surgical resection was performed for definitive diagnosis. The mass was found to be a thymic epidermoid cyst. This case underlines the significance for radiologists to be aware that epidermoid cysts can occur in the thymus and should be considered in the differential diagnosis for a heterogeneous anterior mediastinal mass.

  17. The balance beam metaphor: a perspective on clinical diagnosis.

    Science.gov (United States)

    Hamm, Robert M; Beasley, William Howard

    2014-10-01

    Understanding the impact of clinical findings in discriminating between possible causes of a patient's presentation is essential in clinical judgment. A balance beam is a natural physical analogue that can accurately represent the combination of several pieces of evidence with varying ability to discriminate between disease hypotheses. Calculation of Bayes' theorem using log(posterior odds) as a function of log(prior odds) and the logarithms of the evidence's likelihood ratios maps onto the physical forces affecting objects placed on a balance beam. We describe the rules governing the functioning of tokens representing clinical findings in the comparison of 2 competing diseases. The likelihood ratios corresponding to positive (LR+) or negative (LR-) observations for each symptom determine the lateral position at which the symptom's token is placed on the beam, using a weight if the finding is present and a helium balloon if it is absent. We discuss how a balance beam could represent concepts of dynamic specificity (due to changes in competitor diseases' probabilities) and dynamic sensitivity (due to class-conditional independence). Utility-based thresholds for acting on a diagnosis could be represented by moving the balance beam's fulcrum. It is suggested that a balance beam can be a useful aid for students learning clinical diagnosis, allowing them to build on existing intuitive understanding to develop an appreciation of how evidence combines to influence degree of belief. The balance beam could also facilitate exploration of the potential impact of available questions or investigations.

  18. [Characteristics of immunologic changes and clinical manifestations of allergy in children with impaired thyroid function].

    Science.gov (United States)

    Illek, Ia Iu; Ganiev, A G; Makhmudzhanova, K A; Alimdzhanova, I I

    1990-01-01

    The majority of children with allergic diathesis, living in the Andizhan region of the Uzbek SSR manifest the signs of stable abnormalities of thyroid function, that aggravate immunological alterations and the course of the process. This prompts the use in these children of therapeutic measures aimed at correction of the activity of the thyroid apparatus. With this purpose in view, the children with allergic diathesis associated with increased thyroid function may be administered aqueous solution of potassium iodide whereas those with functional thyroid deficiency may be given thyroidin in proper age-associated doses.

  19. Graduated clinical manifestations according to mutation type in patients with severe myoclonic epilepsy in infancy

    DEFF Research Database (Denmark)

    Brusgaard, Klaus; Møller, Rikke Steensbjerre; Dahl, Hans Atli

    Background Severe myoclonic epilepsy in infancy (SMEI) is a severe form of generalized epilepsy with febrile seizures (GEFS+). SMEI is a rare disorder characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life....... Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development stagnates around the second year of life. SME is considered to be the most severe phenotype within the spectrum of GEFS+. SME is a malignant epileptic...

  20. Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic.

    Science.gov (United States)

    Zadeh, Neda; Getzug, Terri; Grody, Wayne W

    2011-03-01

    Familial Mediterranean fever is an autosomal recessive genetic disorder characterized by recurrent febrile polyserositis, especially prevalent in individuals of Mediterranean descent. Familial Mediterranean fever can have nonspecific manifestations that mimic many common acquired disorders such as infections, acute appendicitis, cholecystitis, and arthritis, which can delay diagnosis for many years and subject patients to extensive evaluations and even unnecessary surgery. Untreated familial Mediterranean fever can result in serious complications such as end-stage renal disease and malabsorption secondary to amyloid deposition in the kidneys and digestive tract, male and female infertility, and growth retardation in children. These significant sequelae, along with the episodic acute attacks, are readily preventable by treatment with oral colchicine and underscore the necessity of early detection and treatment from a medical, psychosocial, and economic standpoint. We describe our comprehensive approach to the accurate diagnosis and effective management of this disorder by means of a dedicated familial Mediterranean fever clinic that incorporates medical genetics on equal footing with general medicine. In addition to providing the clinician with the presenting features of familial Mediterranean fever, methods of diagnosis including molecular testing, and current management based on our extensive experience with hundreds of affected individuals, we also advance this approach as a model for the incorporation of medical genetics practice into the more traditional domains of general medicine.

  1. Clinical relevance of molecular diagnosis in pet allergy.

    Science.gov (United States)

    Uriarte, S A; Sastre, J

    2016-07-01

    We describe the pattern of sensitisation to pet IgE components and its association with clinical symptoms. Hundred and fifty nine consecutive patients with rhinitis/asthma sensitised to dog, cat, and horse were recruited. Specific IgE to whole extracts and to pet recombinant allergens were performed. Only 5% of patients were monosensitised to animal allergens. Specific IgE to Can f 1 was significantly associated with persistent rhinitis, Can f 2 with asthma diagnosis, Can f 3 with moderate/severe rhinitis (M/S-R) and asthma diagnosis (AD), and Can f 5 with persistent and M/S-R. Positive IgE to Fel d 2 was significantly associated with M/S-R and AD, Equ c 1 with M/S-R and Equ c 3 with persistent rhinitis, AD and severe asthma. Sensitisation to ≥2 molecules or to pet albumins was associated with more severe respiratory symptoms. Molecular diagnosis in patients with pet allergy may also help clinicians to predict clinical symptoms and their severity.

  2. To evaluate the efficacy of ultrasonography compared to clinical diagnosis, radiography and histopathological findings in the diagnosis of maxillofacial swellings

    Energy Technology Data Exchange (ETDEWEB)

    Pallagatti, Shambulingappa, E-mail: dr.shambulingappa@gmail.com [Department of Oral Medicine and Radiology, M.M. College of Dental Sciences and Research, Mullana, Ambala, Haryana (India); Sheikh, Soheyl; Puri, Nidhi; Mittal, Amit; Singh, Balwinder [Department of Oral Medicine and Radiology, M.M. College of Dental Sciences and Research, Mullana, Ambala, Haryana (India)

    2012-08-15

    Aim: To evaluate the efficacy of Ultrasonography compared to clinical diagnosis, radiography and histopathological findings in the diagnosis of maxillofacial swellings. Material and methods: The study was conducted on forty-five patients with maxillofacial swellings. The clinical diagnosis, radiographic diagnosis and ultrasonographic diagnosis were made which was compared to the histopathological diagnosis. The maxillofacial swellings included cystic lesions, benign swellings, malignant swellings, lymphadenopathies and abscesses and space infections. Results: The diagnostic accuracy and contingency coefficient was evaluated considering histopathology as gold standard. The diagnostic accuracy of ultrasound was found to be 92.30% in the diagnosis of cystic lesions, 87.5% in benign tumors, 81.8% in malignant tumors, 100% in lymphadenopathies and 90% in space infections and abscesses. The contingency coefficient of 0.934 was obtained when ultrasonography was compared to the histopathology, which was highly significant. Similar significant results were obtained comparing ultrasonography with clinical diagnosis (0.895) and radiographic diagnosis (0.889). Conclusion: Ultrasonography provides accurate imaging of the head and neck region and provides information about the nature of the lesion, its extent, and relationship with the surrounding structures. As the conventional and digital radiography enable the diagnosis of the presence of the disease, but do not give any indication of its nature. So, together with clinical and histopathological examinations, real time ultrasound imaging works out as a valuable adjunct in the diagnosis of orofacial swellings.

  3. Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.

    Science.gov (United States)

    Salpea, Paraskevi; Stratakis, Constantine A

    2014-04-05

    Endocrine neoplasia syndromes feature a wide spectrum of benign and malignant tumors of endocrine and non-endocrine organs associated with other clinical manifestations. This study outlines the main clinical features, genetic basis, and molecular mechanisms behind two multiple endocrine neoplasia syndromes that share quite a bit of similarities, but one can be inherited whereas the other is always sporadic, Carney complex (CNC) and McCune-Albright (MAS), respectively. Spotty skin pigmentation, cardiac and other myxomas, and different types of endocrine tumors and other characterize Carney complex, which is caused largely by inactivating Protein kinase A, regulatory subunit, type I, Alpha (PRKAR1A) gene mutations. The main features of McCune-Albright are fibrous dysplasia of bone (FD), café-au-lait macules and precocious puberty; the disease is caused by activating mutations in the Guanine Nucleotide-binding protein, Alpha-stimulating activity polypeptide (GNAS) gene which are always somatic. We review the clinical manifestations of the two syndromes and provide an update on their molecular genetics.

  4. [Specific clinical and functional features in the patients presenting with neurologic manifestations of deforming dorsopathies and concomitant osteoarthrosis].

    Science.gov (United States)

    Miriutova, N F; Zaĭtsev, A A; Popova, A V

    2012-01-01

    The present study has revealed some specific clinical and functional features in the patients presenting with neurologic manifestations of deforming dorsopathies and concomitant osteoarthrosis. The negative influence of the latter condition on the pain intensity, microcirculation, and duration of the exacerbation of neurologic syndrome has been demonstrated based on the analysis of correlational relationships between the severity of referred projectional nerve root pain and articular pain syndrome. Special emphasis is laid on the interrelation between the duration of pain syndrome and characteristics of microcirculation.

  5. Clinical aspects of personality disorder diagnosis in the DSM-5

    Directory of Open Access Journals (Sweden)

    Francesco Modica

    2015-05-01

    Full Text Available Abstract: Personality disorders represent psychopathological conditions hard to be diagnosed. The Author highlights the clinical aspects of personality disorder diagnosis according to the criteria of the DSM-5. In this study, some of the numerous definitions of personality are mentioned; afterwards, some of the theories on the development of personality shall be. Later on, concepts of temperament, character and personality get analysed. Then, the current approach to personality disorders according to the two models of DSM-5 is reported. The first model is included in the Section II of DSM-5; while in the Section III there exists a proposal for a so-called alternate model. The first one suggests a qualitative or categorical kind of approach to personality disorders, whereas the alternate model proposes a dimensional or quantitative kind of approach and aims to formulate, as well as a diagnosis for general alterations of the personological functioning, even a trait-based personality disorder diagnosis, which can be formulated when a personality disorder is there but doesn't fit criteria for a specific disorder. Ultimately, it can be so claimed: 1 diagnostic criteria of the first model are similar to those of DSM-IV with its respective strenghts and weaknesses, and namely high probability in diagnosis, where  there, of personality disorder, yet insufficient sensitivity in the specification of the disorder; 2 the alternate model, despite criticism, thanks to the possibility of delivering a trait-based personality disorder diagnosis, seems to be more equipped both in the identification of the personality disorder and further specifications.

  6. Clinical Evaluation of Specific Oral Manifestations in Pediatric Patients with Ascertained versus Potential Coeliac Disease: A Cross-Sectional Study.

    Science.gov (United States)

    Bramanti, Ennio; Cicciù, Marco; Matacena, Giada; Costa, Stefano; Magazzù, Giuseppe

    2014-01-01

    Patients involved on coeliac disease (CD) have atypical symptoms and often remain undiagnosed. Specific oral manifestations are effective risk indicators of CD and for this reason an early diagnosis with a consequent better prognosis can be performed by the dentist. There are not researches analysing the frequency of these oral manifestations in potential coeliac patients. The aim of this study is to investigate the oral hard and soft tissue lesions in potential and ascertained coeliac children in comparison with healthy controls. 50 ascertained children, 21 potential coeliac patients, and 54 controls were recruited and the oral examination was performed. The overall oral lesions were more frequently present in CD patients than in controls. The prevalence of oral soft tissue lesions was 62% in ascertained coeliac, 76.2% in potential coeliac patients, and 12.96% in controls (P coeliac and 42.5% of the potential coeliac versus 11.11% of the controls (P coeliac and 19% in potential coeliac versus 0% in controls (P villous atrophy.

  7. Relationship between nasolaryngoscopic findings and pH probe esophageal monitoring in children with clinical manifestations of extra-esophageal reflux

    Directory of Open Access Journals (Sweden)

    Oliveira, Neide Fatima Cordeiro Diniz

    2009-06-01

    Full Text Available Introduction: The gastroesophageal reflux diagnosis, mainly in patients with atypical manifestations, has been receiving increasing importance. Objective: To relate the nasolaryngoscopic findings with prolonged pH probe esophageal monitoring in children with clinical manifestations of extra-esophageal reflux. Method: Transversal prospective clinical study, in which we evaluated 44 children from one to 12 years old, of both genders, by means of nasolaryngoscopy. All were submitted to pH probe monitoring for research of hidden reflux due to cases of otitis, sinusitis, asthma, laryngitis and/or dysphonia in the last 12 months. Results: Out of 44 children, 15 (34% presented with normal pH monitoring and 29 (66% with altered monitoring. Out of 29 with altered pH monitoring, 19 (65.5% were boys and 10 (34.5% were girls. There was no statistically significant difference between gender and the positive results of pH monitoring, in spite of a discreet predominance of occurrence in the male population. All children had smaller adenoids than 75% of the cavity of concha aerial column. Six presented with purulent secretion in nasal cavity. Eight (18% had nodes in vocal cords and five (11% of whom had an altered pH monitoring and three (7% of whom were normal. We found at least one alteration upon nasolaryngoscopy in 80% of the 15 children with normal pH monitoring and in 89.7% of the 29 who had an altered pH monitoring. Conclusion: The prevalence of gastroesophageal reflux in children with recurrent respiratory and otorhinolaryngological affections was high. However, the data obtained didn't show any statistically significant difference (p<0.05 among the nasolaryngoscopic findings, associated or not with gastroesophageal reflux, confirmed by pH monitoring. Therefore, no relationship was found between the pathological gastric acid reflux and nasolaryngoscopic alterations.

  8. Clinical diagnosis of dental caries: a European perspective.

    Science.gov (United States)

    Pitts, N B

    2001-10-01

    The aim of this paper is to provide a broad international perspective on aspects of the RTI/UNC systematic review, to introduce relevant literature not cited, and to make recommendations for clinical practice education and research suggested by the evidence. Clinical caries diagnosis represents the foundation on which the answers to most of the consensus questions will be based. This paper highlights needs for being clear about definitions and nomenclature; understanding the importance of the concepts underlying the D1 and D3 diagnostic thresholds used widely within the RTI/UNC Review; and appreciating that the diagnostic challenge now faced by clinicians is significant and is becoming more complex as the presentation and distribution of the disease changes over time and the range of preventive and operative treatment options expands. A series of recommendations informed by the evidence are made, including a rather contentious issue for many clinicians concerning the lack of evidence supporting the continued use of a sharp explorer as a diagnostic tool for primary caries diagnosis. This practice should be discontinued as it may cause some harm to the patient and yet fails to provide a significant balancing diagnostic benefit. Finally, it is suggested that dentistry should learn from the developing evidence base in medicine on how best to disseminate the findings of reviews and promote appropriate changes in clinical practice.

  9. Systematic Approach toward the Clinical Diagnosis of Functional Dyspepsia

    Directory of Open Access Journals (Sweden)

    Pierre Paré

    1999-01-01

    Full Text Available Functional dyspepsia (FD is the most common condition in patients consulting with upper gastrointestinal tract symptoms, resulting in up to 5% of visits to family physicians. By definition, patients with FD have no clinical, biochemical or endoscopic evidence of an organic disease that is likely to explain their symptoms. The process to be used in a structured interview for establishing a clinical diagnosis of FD is presented. The steps are as follows: determine the duration and the course of the disease; characterize the current syndrome and review the alarm symptoms; elicit the patient-perceived dominant symptom and/or condition; and identify the patient’s reason for consulting and address the psychosocial factors. According to the clinical characteristics of the three most frequent causes of dyspepsia (peptic ulcer, gastroesophageal reflux and FD and acknowledging that these conditions may coexist rather than overlap in some patients, an algorithm is suggested for establishing a working diagnosis of FD and indications for investigation, and initiating a management strategy.

  10. Clinical manifestation and histopathologic features of linear cutaneous lupus erythematosus: a report of six cases%线状皮肤型红斑狼疮六例

    Institute of Scientific and Technical Information of China (English)

    罗燕; 李晓建; 黄琼

    2010-01-01

    Objective To summariza the clinical and histological features of linear cutaneous lupus erythematosus (LCLE).Methods Six cases of LCLE were analyzed retrospectively.Results LCLE was often clinically characterized by unilateral.zonal or linear,dark-erythematous patches with telangiectasia,and some lesions were covered with adherent Scales.Histologically,there were patchy perivascular and periadnexal lymphoid inflammatory infiltrate occurring in the superficial and deep dermis.Some cases were pathologically manifested by parakeratosis of superficial dermis,follicular plugging and hydropic degeneration of the basal layer of the epidermis,which was characteristic of discoid lupus erythematosus.The preferred treatment was chloroquine for LCLE.Low dose of corticosteroids were recommended for widespread lesions,especially for those pathologically manifested by lymphocyte infiltrates in the lower dermis and fat tissue.Conclusion The diagnosis of LCLE should be based on clinical and histopathological manifestations.%目的 探讨线状皮肤型红斑狼疮(LCLE)临床和组织病理学特点.方法 回顾分析6例LCLE的临床和病理学特点.结果 LCLE多单侧发病,表现为带状或线状分布的暗红斑,伴毛细血管增生扩张,部分黏着性鳞屑.组织病理学诊断依据为真皮浅、深丛细血管周围及毛囊、皮脂腺、汗腺周围有致密团块状淋巴细胞浸润,部分病例可见表皮角化不全,毛囊角栓,基底细胞液化变性,类似盘状红斑狼疮组织像.治疗以氯喹为首选,对于皮疹范围较广泛,且组织病理改变见淋巴细胞浸润达真皮深部甚至皮下脂肪小叶处的患者,给予小剂量糖皮质激素治疗疗效明显.结论 LCLE诊断需要结合临床和组织病理.

  11. The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.

    Science.gov (United States)

    Schatz, Ulrich A; Ensenauer, Regina

    2010-10-01

    Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common fatty acid oxidation disorder. Typically, undiagnosed individuals are asymptomatic until an episode of increased energy demand and fasting occurs, resulting in metabolic derangement. Phenotypic heterogeneity has been increasingly realized, with reports of both neonates and adults manifesting with life-threatening symptoms including encephalopathy, rhabdomyolysis, and cardiac failure. If diagnosed presymptomatically, outcome is favorable basically by avoidance of fasting. Early detection by newborn screening (NBS) has significantly reduced the incidence of severe adverse events including deaths. In this manuscript we focus on the natural course of the disease in both children and adults. Although NBS for MCADD has been successfully established, continuing efforts need to be made to avoid acute crises and deterioration of outcome in screened patients entering adolescence and adulthood.

  12. Clinical manifestation and humoral immuno-function of myasthenia gravis patients with abnormal and normal thymus gland

    Institute of Scientific and Technical Information of China (English)

    Fuhua Peng; Yongqiang Dai; Wei Qiu; Xueqiang Hu

    2006-01-01

    BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease which mainly affects neuromuscular junctions. The ages, modified Osserman classification and clinical manifestation and humoral immunol function of MG with and without thymic abnormality are different.OBJECTIVE: To explore the clinical manifestation and humoral immuno-function of MG with abnormal and normal thymus gland.DESIGN: Contrast observation.SETTING: Department of Neurology, the Third Affiliated Hospital of Sun Yat-sen University.PARTICIPANTS: A total of 49 inpatients with MG were selected from the Third Affiliated Hospital of Sun Yat-sen University from March 2000 to August 2005. All the patients had typical clinical manifestation of MG and positive neostigmine test. All the patients knew and agreed the laboratory examinations. There were 22 males and 27 females of 2-69 years old. Chest MRI or CT scan were performed to reveal thymus gland abnormality. According to whether there was tumor in superior mediastinum, all patients were divided into 2 groups, abnormal and normal groups. Normal thymus gland group (n=30) contained 16 males and 14 famales of 6-43 years old. Abnormal thymus gland group (n=19) contained 6 male and 13 female of 2-69years old.METHODS: ① All patients were questioned about initial symptoms. Meanwhile, main clinical manifestations were recorded at hospital admission. ② 7180A automatic biochemical analyzer and automatic microplate reader were used in detecting seroimmunity index. The levels of C3, C4, IgG, IgA, IgM and CH50 in blood serum were analyzed by nephelometry. ③ Clinical classification is based on modified Osserman classification. The patients with MG were divided into six types: Ⅰ (Ocular myasthenia), Ⅱ a (Mild generalized myasthenia), Ⅱ b (Moderately severe generalized myasthenia), Ⅲ (Acute fulminating myasthenia), Ⅳ (Late severe myasthenia).MAIN OUTCOME MEASURES: ① Differences of initial symptoms and clinical manifestation of two group patients.

  13. KIR : HLA association with clinical manifestations of HBV infection in Madurai, south India

    Indian Academy of Sciences (India)

    Narayanan Kalyanaraman; Lakshmikanthan Thayumanavan; Mariakuttikan Jayalakshmi

    2016-03-01

    The antiviral action of natural killer (NK) cells is regulated by a wide repertoire of germ-line encoded membrane receptors which recognize the expression of certain self-molecules on target cells. Among the receptors, killer cell immunoglobulinlikereceptor (KIR) which recognizes the expression of human leukocyte antigen (HLA) class I has a predominant role in regulating the effector functions of NK cells, particularly in viral infections. We studied a total of 128 hepatitis B virus (HBV)patients (15 acute, 43 asymptomatic, 27 chronic and 43 with other liver diseases) while attending the Department of Medical Gastroenterology, Government Rajaji Hospital, Madurai, India, and 128 ethnic matched control to find the association between the KIR : HLA genes and differential manifestations of HBV. KIR and its ligand HLA polymorphism were identified by DNAPCR methods. The activatory receptor KIR-2DS1 was significantly elevated in various disease categories, namely asymptomatic, chronic and other HBV, except acute HBV infection. Whereas, KIR 2DS3 in acute and chronic patients and KIR 2DS5 and 3DS1 in asymptomatic individuals. Among various KIR–HLA combinations, homozygous 2DS2:C1 and individuals with 3DSI:BW4 (OR = 3.23, CI = 1.55–6.7, Pc = 0.02) are associated with HBV asymptomatism, while most of the two domain inhibitory receptors with their ligands showed significant risk in other liver diseases. Further, KIR3DL1 : HLA Bw4Iso80 (OR = 3.89, 95% CI = 1.58–9.55, Pc = 0.004) is related with higher risk for asymptomatic infection when compared with chronic HBV. Thus, the select KIR : HLA alleles and combinations seem to direct the NK cell activities and immune response in different directions resulting in varied symptoms and manifestations in the subgroups of HBV-infected patientsstudied.

  14. Clinical evaluation of cytological diagnosis of nasopharyngeal malignancies.

    Science.gov (United States)

    Molinari, R; Pilotti, S; Rilke, F

    1978-01-01

    Between 1970 and 1975 cytological examination was applied to the diagnosis of nasopharyngeal malignancies in a series of 216 consecutive patients who had either a tumour in the nasopharynx or clinical signs of nasopharyngeal carcinoma, or who were locally asymptomatic but had enlarged cervical lymph nodes. Smears were taken by introducing a small rough pad of compressed gauze through the mouth into the nasopharynx with an upward-angled forceps. In each case the cytological smear was taken immediately before biopsy; often, a lymph node was removed subsequently. When morphological diagnoses were doubtful and histological findings were at variance with positive cytological findings, the patients were reexamined clinically, and diagnosis was postponed. The case material was made up of 90 nasopharyngeal carcinomas, 24 lymphomas, one malignant melanoma, one adenoid cystic carcinoma and 100 patients without malignancies. Cytological findings from the first smear were positive in 77.8% of nasopharyngeal carcinomas, in 66.6% of lymphomas and in the cases of melanoma and adenoid cystic carcinoma. There were no false-positive results. When the nasopharyngeal carcinomas were subdivided into undifferentiated carcinomas of the nasopharyngeal type and squamous-cell carcinomas, cytological findings were positive in ,0% and 73%, respectively. Positivity of histological findings was distributed as follows: 91.7% for malignant lymphomas, 86.6% for undifferentiated carcinomas and 86.6% for squamous-cell carcinomas. With respect to clinical suspicion of malignancy, positive cytological findings were obtained in 50% of clinically occult cases and in 84.6% of patients with obvious malignancies; intermediate figures were found for clinically doubtful (64.3%) and for highly suspicious (77.8%) cases. Cyto-histological concordance was shown in 70% of cases; false-negative histological results were obtained in 7.8% and false-negative cytological results in 16.6% of cases. Combined cyto

  15. Sexual dimorphism in Parkinson’s disease: differences in clinical manifestations, quality of life and psychosocial functioning between males and females

    OpenAIRE

    Farhadi, Farzaneh; Vosoughi, Kia; Shahidi, Gholam Ali; Delbari, Ahmad; Lökk, Johan; Fereshtehnejad, Seyed-Mohammad

    2017-01-01

    Introduction Sex-related differences in clinical manifestations and consequences of Parkinson’s disease (PD) have been poorly explored. Better understanding of sexual dimorphism in neurologic diseases such as PD has been announced as a research priority. The aim of our study was to determine independent sex differences in clinical manifestations and subtypes, psychosocial functioning, quality of life (QoL) and its domains between male and female individuals with PD. Patients and methods A com...

  16. Mucocutaneous Manifestations of HIV and the Correlation with WHO Clinical Staging in a Tertiary Hospital in Nigeria

    Directory of Open Access Journals (Sweden)

    Olumayowa Abimbola Oninla

    2014-01-01

    Full Text Available Skin diseases are indicators of HIV/AIDS which correlates with WHO clinical stages. In resource limited environment where CD4 count is not readily available, they can be used in assessing HIV patients. The study aims to determine the mucocutaneous manifestations in HIV positive patients and their correlation with WHO clinical stages. A prospective cross-sectional study of mucocutaneous conditions was done among 215 newly diagnosed HIV patients from June 2008 to May 2012 at adult ART clinic, Wesley Guild Hospital Unit, OAU Teaching Hospitals Complex, Ilesha, Osun State, Nigeria. There were 156 dermatoses with oral/oesophageal/vaginal candidiasis (41.1%, PPE (24.4%, dermatophytic infections (8.9%, and herpes zoster (3.8% as the most common dermatoses. The proportions of dermatoses were 4.5%, 21.8%, 53.2%, and 20.5% in stages 1–4, respectively. A significant relationship (using Pearson’s Chi square with P value <0.05 was obtained between dermatoses and WHO clinical stages. Pearson’s correlation coefficient showed a positive correlation between the number of dermatoses and the WHO clinical stages. Dermatoses can therefore serve as diagnostic and prognostic markers in resource limited settings to initiate HAART in clinical stages 3 and 4.

  17. Diagnosis and Clinical Value of CT on Brain Abscess%脑脓肿CT诊断的临床分析

    Institute of Scientific and Technical Information of China (English)

    高廷军; 李涛

    2015-01-01

    Objective To probe manifest actions of brain abscess on CT and clinical value of CT in brain abscess. Methods CT feature in 29 patients pathologically o r clinically proved were retro spectively analyzed. Results 25 cases of CT examination for the ifrst time to make a deifnite diagnosis, the other 4 cases after 7-15 d, review of the diagnosis of brain abscess. Conclusion CT has characteristic manifestations on brain abscess. It should be the ifrst choice for t he diagnosis.%目的: CT对脑脓肿的诊断价值和临床意义。方法分析29例经手术病理和临床证实的脑脓肿的CT表现及临床,得出CT对于临床诊断疗效。结果25例首次CT检查就做出明确诊断,另4例经7~15 d后复查,诊断为脑脓肿。结论脑脓肿CT表现有一定特征性,是诊断脑脓肿首选方法。

  18. Serum levels of Th1/Th2 cytokines in aged patients and their correlation with eczema development and clinical manifestation

    Institute of Scientific and Technical Information of China (English)

    Wei-Gang Wang; Feng-Lin Hou; Xiu-Ming Zhang; Shi-Wu Ma; Jin-Jun Chen

    2016-01-01

    Objective:To investigate variations of Th1/Th2 cytokine levels, as well as their correlation with eczema development and clinical manifestation in aged patients.Methods: A total of 92 patients (above 60 years old) with eczema diagnosed by the outpatient department of dermatology and venerology of our hospital were included as the eczema group, while 60 aged patients without eczema as the healthy group. Patients' serum levels of Th1/Th2 cytokines were examined for inter-group comparison and stratified analysis as per clinical manifestation. Results:Serum levels of interleukin (IL)-2, IL-4, IL-10, IL-12, tumor necrosis factor (TNF)-α and interferon (IFN)-γ were all significantly higher in patients of the eczema group than the healthy group. Acute stage levels of IL-2, IL-4, IL-10 and IFN-γ were significantly higher in patients of the eczema group than the healthy group. There was no significant difference in the levels of IL-12 and TNF-α between patients of the acute stage and those of the chronic stage. And no significant difference existed in the levels of IL-2, IL-4, IL-10, IL-12, TNF-α and IFN-γ between generalized and localized eczema patients.Conclusion:Compared with the healthy population, Th1/Th2 cytokine levels are significantly different in eczema patients, especially those in the acute stage.

  19. Analysis of Potential Drug-Drug Interactions and Its Clinical Manifestation of Pediatric Prescription on 2 Pharmacies in Bandung

    Directory of Open Access Journals (Sweden)

    Melisa I. Barliana

    2013-09-01

    Full Text Available The potential of Drug-Drug Interactions (DDI in prescription have high incidence around the world, including Indonesia. However, scientific evidence regarding DDI in Indonesia is not available. Therefore, in this study we have conducted survey in 2 pharmacies in Bandung against pediatric prescription given by pediatrician. These prescriptions then analyzed the potential for DDI contained in the prescription and clinical manifestation. The analysis showed that in pharmacy A, there are 33 prescriptions (from a total of 155 prescriptions that have potential DDI, or approximately 21.19% (2 prescriptions have the potential DDI major categories, 23 prescriptions categorized as moderate, and 8 prescriptions as minor. In Pharmacy B, there are 6 prescriptions (from a total of 40 prescriptions or 15% of potential DDI (4 prescriptions categorized as moderate and 2 prescriptions as minor. This result showed that potential DDI happened less than 50% in pediatric prescription from both pharmacies. However, this should get attention because DDI should not happen in a prescription considering its clinical manifestations caused by DDI. Moreover, current pharmaceutical care refers to patient oriented than product oriented. In addition, further study for the pediatric prescription on DDI incidence in large scale need to be investigated.

  20. [Clinical Pathological Diagnosis, and Treatment for Pleural Mesothelioma].

    Science.gov (United States)

    Kishimoto, Takumi; Fujimoto, Nobukazu; Nishi, Hideyuki

    2016-05-01

    For the differential diagnosis between fibrous pleuritis and other malignancies such as lung cancer, multiple immunostaining is essential to diagnose pleural mesothelioma. For cytological diagnosis of pleural effusions, differentiation between mesothelioma cells and reactive mesothelial cells is very difficult. Therefore, histological diagnoses of tumor tissues obtained via biopsy are essential. To diagnose epthelioid mesothelioma, more than 2 positive and negative markers must be consistent with those known for mesothelioma. To diagnose sarcomatoid mesothelioma, keratin is usually positive, differentiating the diagnosis from that for real sarcoma. For surgical treatment for pleural mesothelioma, extrapleural pneumonectomy (EPP) and pleurectomy/decortication (P/D) are usually performed. The proportion of P/D increases because of the low death rates with surgery and similar survivals. However, a trimodal approach, such as EPP with chemotherapy and radiotherapy, is best for longer survival and expected to be curative. For chemotherapy, only cisplatin (CDDP) combined with pemetrexed (PEM) is effective, and no other agents have been identified for this disease. Nowadays, clinical immunotherapy trials start with phase II study.

  1. Distinct features of circulating microparticles and their relationship to clinical manifestations in systemic lupus erythematosus

    DEFF Research Database (Denmark)

    Nielsen, Christoffer T; Østergaard, Ole; Johnsen, Christina

    2011-01-01

    Characterization of the abundance, origin, and annexin V (AnxV)-binding capabilities of circulating microparticles (MPs) in SLE patients and healthy controls and to determine any associations with clinical parameters....

  2. Epidemiology, clinical manifestations, and molecular typing of salmonella typhi isolated from patients with typhoid fever in Lebanon.

    Science.gov (United States)

    Kanj, Souha S; Kanafani, Zeina A; Shehab, Marwa; Sidani, Nisreen; Baban, Tania; Baltajian, Kedak; Dakdouki, Ghenwa K; Zaatari, Mohamad; Araj, George F; Wakim, Rima Hanna; Dbaibo, Ghassan; Matar, Ghassan M

    2015-06-01

    The objective of this study was to examine the epidemiology and the clinical manifestations of typhoid fever as well as the susceptibility and strain relatedness of Salmonella typhi isolates in Lebanon from 2006 to 2007. A total of 120 patients with typhoid fever were initially identified from various areas of the country based on positive culture results for S. typhi from blood, urine, stools, bone marrow and/or positive serology. Clinical, microbiological and molecular analysis was performed on cases with complete data available. These results indicated that drinking water was an unlikely mode of transmission of the infection. Despite increasing reports of antimicrobial resistance among S. typhi isolates, the vast majority of these isolates were susceptible to various antibiotic agents, including ampicillin, cephalosporins, quinolones, and trimethoprim/sulfamethoxazole. Molecular analysis of the isolates revealed a predominance of one single genotype with no variation in distribution across the geographical regions.

  3. Influence of the bacterial phenotypes on the clinical manifestations in Klebsiella pneumoniae bacteremia patients: A retrospective cohort study.

    Science.gov (United States)

    Togawa, Atsushi; Toh, Hiromi; Onozawa, Kyoko; Yoshimura, Michinobu; Tokushige, Chiemi; Shimono, Nobuyuki; Takata, Tohru; Tamura, Kazuo

    2015-07-01

    Ninety-four episodes of Klebsiella pneumoniae bloodstream infection were identified at a university hospital in Japan. After excluding extended-spectrum beta lactamase-producing strains, 83 blood isolates from these patients were assayed in terms of their bacterial phenotypes such as the mucoid and hypermucoviscosity phenotypes. Bacterial phenotypes were correlated with the patients' clinical manifestations. The hypermucoviscosity phenotype was significantly associated with septic shock at the onset of infections (odds ratio, 15.92; 95% confidence interval, 1.27-468.12), but was not associated with liver abscess formation. Mortality was determined by the presence of septic shock. RmpA gene was associated with the induction of the hypermucoviscosity phenotype. These results reveal unique roles of bacterial phenotypes on the patient's clinical condition in K. pneumoniae bacteremia.

  4. Glucose: archetypal biomarker in diabetes diagnosis, clinical management and research.

    Science.gov (United States)

    Krentz, Andrew J; Hompesch, Marcus

    2016-10-13

    The clinical utility of diabetes biomarkers can be considered in terms of diagnosis, management and prediction of long-term vascular complications. Glucose satisfies all of these requirements. Thresholds of hyperglycemia diagnostic of diabetes reflect inflections that confer a risk of developing long-term microvascular complications. Degrees of hyperglycemia (impaired fasting glucose, impaired glucose tolerance) that lie below the diagnostic threshold for diabetes identify individuals at risk of progression to diabetes and/or development of atherothrombotic cardiovascular disease. Self-measured glucose levels usefully complement hemoglobin A1c levels to guide daily management decisions. Continuous glucose monitoring provides detailed real-time data that is of value in clinical decision making, assessing response to new diabetes drugs and the development of closed-loop artificial pancreas technology.

  5. Role of organic volatile profiles in clinical diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Zlatkis, A. (Univ. of Houston, TX); Brazell, R.S.; Poole, C.F.

    1981-06-01

    The organic volatile constituents of biological fluids contain clinically useful diagnostic information for the recognition of metabolic disorders in man. To gain access to this information, it was necessary to develop the methodology for reproducibly stripping the trace concentrations of volatiles from biological fluids (dynamic headspace, gas phase-stripping, solvent extraction, and the transevaporator technique), to separate the complex extracts by high-resolution capillary column gas chromatography, and to develop computer-aided data-handling and pattern-recognition techniques for analyzing the immense amount of information generated. The normal and pathological organic volatiles identified by gas chromatography-mass spectrometry in urine, serum, and breast milk are tabulated. Clinical applications of the above techniques to the study and diagnosis of diabetes mellitus, respiratory virus infection, renal insufficiency, and cancer are described.

  6. Ischemic colitis:Clinical practice in diagnosis and treatment

    Institute of Scientific and Technical Information of China (English)

    Angeliki Theodoropoulou; Ioannis E Koutroubakis

    2008-01-01

    Ischemic colitis is the most common form of ischemic injury of the gastrointestinal tract and can present either as an occlusive or a non-occlusive form.It accounts for 1 in 1000 hospitalizations but its incidence is underestimated because it often has a mild and transient nature.The etiology of ischemic colitis is multifactorial and the clinical presentation variable.The diagnosis is based on a combination of clinical suspicion,radiographic,endoscopic and histological findings.Therapy and outcome depends on the severity of the disease.Most cases of the non-gangrenous form are transient and resolve spontaneously without complications.On the other hand,high morbidity and mortality and urgent operative intervention are the hallmarks of gangrenous ischemic colitis.

  7. Spondylodiscitis as the only clinical manifestation of the onset of psoriatic spondyloarthritis

    Directory of Open Access Journals (Sweden)

    V. Bruzzese

    2011-06-01

    Full Text Available Psoriatic arthritis falls within the family of seronegative spondyloarthritis given that the involvement of the spine, whether in combination with peripheral arthritis or not, is one of the most common clinical fi ndings of the disease. Symptomatological polymorphism of the disease, however, still includes several clinical subsets ranging from peripheral arthritis, mono-, oligo- and polyarticular, to enthesitis and dactylitis, all the way to crippling arthritis. Despite the frequent

  8. Clinical manifestations of Helicobacter-associated chronic gastroduodenitis in children with giardiasis

    OpenAIRE

    Sokolnyk, S.V.

    2016-01-01

    Objective. To evaluate the nature of the clinical course of chronic gastroduodenitis (CGD) in children with giardiasis invasion. Patients and methods. A complex clinical, instrumental and laboratory examination of children in the age 7–18 years with Helicobacter-associated chronic gastroduodenitis is conducted. The first group consisted of 62 children with CGD without giardiasis invasion, the second group consisted of 43 children with CGD and giardiasis. Results. In the presence of giardiasis...

  9. Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.

    Science.gov (United States)

    Büscher, Rainer; Büscher, Anja K; Weber, Stefanie; Mohr, Julia; Hegen, Bianca; Vester, Udo; Hoyer, Peter F

    2014-10-01

    Autosomal recessive polycystic kidney disease (ARPKD), although less frequent than the dominant form, is a common, inherited ciliopathy of childhood that is caused by mutations in the PKHD1-gene on chromosome 6. The characteristic dilatation of the renal collecting ducts starts in utero and can present at any stage from infancy to adulthood. Renal insufficiency may already begin in utero and may lead to early abortion or oligohydramnios and lung hypoplasia in the newborn. However, there are also affected children who have no evidence of renal dysfunction in utero and who are born with normal renal function. Up to 30 % of patients die in the perinatal period, and those surviving the neonatal period reach end stage renal disease (ESRD) in infancy, early childhood or adolescence. In contrast, some affected patients have been diagnosed as adults with renal function ranging from normal to moderate renal insufficiency to ESRD. The clinical spectrum of ARPKD is broader than previously recognized. While bilateral renal enlargement with microcystic dilatation is the predominant clinical feature, arterial hypertension, intrahepatic biliary dysgenesis remain important manifestations that affect approximately 45 % of infants. All patients with ARPKD develop clinical findings of congenital hepatic fibrosis (CHF); however, non-obstructive dilation of the intrahepatic bile ducts in the liver (Caroli's disease) is seen at the histological level in only a subset of patients. Cholangitis and variceal bleeding, sequelae of portal hypertension, are life-threatening complications that may occur more often in advanced cases of liver disease. In this review we focus on common and uncommon kidney-related and non-kidney-related phenotypes. Clinical management of ARPKD patients should include consideration of potential problems related to these manifestations.

  10. Tattoo complaints and complications: diagnosis and clinical spectrum.

    Science.gov (United States)

    Serup, Jørgen; Carlsen, Katrina Hutton; Sepehri, Mitra

    2015-01-01

    Tattoos cause a broad range of clinical problems. Mild complaints, especially sensitivity to sun, are very common and seen in 1/5 of cases. Medical complications are dominated by allergy to tattoo pigment haptens or haptens generated in the skin, especially in red tattoos but also in blue and green tattoos. Symptoms are major and can be compared to cumbersome pruritic skin diseases. Tattoo allergies and local reactions show distinct clinical manifestations, with plaque-like, excessive hyperkeratotic, ulcero-necrotic, lymphopathic, neuro-sensory, and scar patterns. Reactions in black tattoos are papulo-nodular and non-allergic and associated with the agglomeration of nanoparticulate carbon black. Tattoo complications include effects on general health conditions and complications in the psycho-social sphere. Tattoo infections with bacteria, especially staphylococci, which may be resistant to multiple antibiotics, may be prominent and may progress into life-threatening sepsis. Contaminated tattoo ink is an open-window risk vector that can lead to epidemic tattoo infections across national borders due to contaminated bulk production. Hepatitis B and C and human immunodeficiency virus (HIV) transferred by tattooing remain a significant risk needing active prevention. It is noteworthy that cancer arising in tattoos, in regional lymph nodes, and in other organs due to tattoo pigments and ingredients has not been detected or noted as a significant clinical problem hitherto, despite millions of people being tattooed for decennia. Clinical observation and epidemiology disagree with register data, which indicate an increased risk of cancer due to chemical carcinogens present in some inks. Registers rely on chronic dosaging of cell lines and animals. However, tattooing in humans is essentially a single-dose exposure, which might explain the observed discrepancy.

  11. Diagnosis and clinical features of trigemino-autonomic headaches.

    Science.gov (United States)

    May, Arne

    2013-10-01

    Although severe short-lasting headaches are rare, they can be considered disabling conditions with a major impact on the quality of life of patients. These headaches can divided broadly in to those associated with autonomic symptoms, so called trigeminal autonomic cephalgias (TACs), and those with few or no autonomic symptoms. The TACs include cluster headache, paroxysmal hemicranias, hemicrania continua, and short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms as well as short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome. In all of these syndromes, half-sided head pain and ipsilateral cranial autonomic symptoms such as lacrimation or rhinorrhea are prominent. The paroxysmal hemicranias have, unlike cluster headaches, a very robust response to indomethacin, leading to a notion of indomethacin-sensitive headaches. The diagnosis of TACs is exclusively a clinical task. Because of the fact that cluster headache is strictly half-sided, typically involves the region around the eye and temple and often starts in the upper jaw, most patients first consult a dentist or ophthalmologist. No single instrumental examination has yet been able to define, or ensure, the correct diagnosis, or differentiate idiopathic headache syndromes. It is crucial that a trained neurologist sees these patients early so that management can be optimized and unnecessary procedures can be avoided. Although TACS are, in comparison to migraine, quite rare, they are nevertheless clinically very important for the neurologist to consider as they are easy to diagnose and the treatment is very effective in most patients.

  12. Small Renal Masses: Incidental Diagnosis, Clinical Symptoms, and Prognostic Factors

    Directory of Open Access Journals (Sweden)

    F. M. Sánchez-Martín

    2008-01-01

    Full Text Available Introduction. The small renal masses (SRMs have increased over the past two decades due to more liberal use of imaging techniques. SRMs have allowed discussions regarding their prognostic, diagnosis, and therapeutic approach. Materials and methods. Clinical presentation, incidental diagnosis, and prognosis factors of SRMs are discussed in this review. Results. SRMs are defined as lesions less than 4 cm in diameter. SRM could be benign, and most malignant SMRs are low stage and low grade. Clinical symptoms like hematuria are very rare, being diagnosed by chance (incidental in most cases. Size, stage, and grade are still the most consistent prognosis factors in (RCC. An enhanced contrast SRM that grows during active surveillance is clearly malignant, and its aggressive potential increases in those greater than 3 cm. Clear cell carcinoma is the most frequent cellular type of malign SRM. Conclusions. Only some SRMs are benign. The great majority of malign SRMs have good prognosis (low stage and grade, no metastasis with open or laparoscopic surgical treatment (nephron sparing techniques. Active surveillance is an accepted attitude in selected cases.

  13. Etiopathogenetic consideration and definition of the clinical manifestation of erosive dental defects

    Directory of Open Access Journals (Sweden)

    Stojšin Ivana M.

    2007-01-01

    Full Text Available Dental defects of erosive nature are defined as irreversible losses of dental tissue, caused by long lasting and repeated action of acids that dissolve top layer of hydroxyapatite and fluorideapatites crystal structure, under assumption that aggressive factor is not of bacterial nature. Acids that cause changes on teeth according to their origin are gastric, dietetic, or they are of environmental origin. Current way of life, as well as nutritional habits create potentially dangerous conditions for the hard dental tissue, for prevention of mineralization process causes defects of oral system homeostasis. Defects occur on primary teeth, as well as on permanent teeth. However, this happens once and a half time more frequently on primary teeth due to the weaker primary maturation. In initial phases, changes are localized in enamel and by their development the bottom locates in dentine. Defects appear as smooth, shiny, round concavities on caries immune positions, or as cupping of occlusal surfaces. The depth of an eroded lesion consists of the depth of the crater plus the depth of tissue demineralization at the base of the lesion. Early verification of the etiological factor, together with good knowledge of the manifested shape change has influence to the prevention of the crown of tooth loss, complete occlusion, mastication and speech.

  14. Clinical application of fluorescence in situ hybridization for prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Shu-fang JIANG

    2012-07-01

    Full Text Available Objective To establish and optimize the procedures of fluorescence in situ hybridization(FISH), and evaluate its clinical value in rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. Methods Amniotic fluid or fetal blood was sampled by routine invasive procedures. After the amniotic fluid cells or fetal blood cells were separated and sequentially processed with hypotonic solution, fixation solution, smear and high temperature, they were hybridized in situ with two panels of specific fluorescence probes to detect numerical abnormality of chromosomes 21, 18, 13, X, Y. All the samples were also cultured and analyzed for their karyotype by conventional methods. Results When it was used as a diagnostic criterion of chromosomal number that the fluorescence signals were observed in ≥90% cells, GLP 13/GLP 21 probe panel showed 2 green/2 red fluorescence signals and CSP18/CSP X/CSP Y probe panel showed 2 blue/2 yellow (female or 2 blue/1 yellow/1 red fluorescence signals (male under normal condition. The test reports of all 196 cases were sent out in 72-96 hours, and 7 cases of Down syndrome, 2 cases of trisomy 18 and 1 case of sex chromosomal numerical abnormality were detected, which were accordant with karyotype analysis results reported one month later. Conclusions FISH has potential for clinical application, and is applicable to rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. The rapid FISH, together with conventional karyotyping, offer a valuable means for prenatal diagnosis of fetal aneuploidies.

  15. Comparison of clinical features and health manifestations in lean vs. obese Indian women with polycystic ovarian syndrome

    Directory of Open Access Journals (Sweden)

    Abha Majumdar

    2009-01-01

    Full Text Available Aims: To study the prevalence of clinical manifestations in obese and lean polycystic ovarian syndrome (PCOS women and their health hazards. Settings and Design: This prospective study was carried out in a tertiary care infertility clinic from 1.7.2005 till 31.12.2007. Materials and Methods: These women were diagnosed to have PCOS by the European Society of Human Reproduction and Embryology and the American Society of Reproductive Medicine, Rotterdam 2003 criteria. They were further divided into two groups according to their body mass index (BMI: Group A (n = 300, overweight and obese with BMI> 23 and Group B (n = 150, normal weight and lean with BMI ≤23. Stastical Analysis and Results: The prevalence of menstrual irregularities [79.2% vs. 44%, P = 0.000, 95% confidence interval (CI = 0.26-0.44] and clinical hyperandrogenism (74.2% vs. 50.6%, P = 0.000, 95% CI=0.14-0.32 was signifi cantly higher in the obese group, whereas android central obesity (waist to hip ratio> 0.85 was similar in both groups, irrespective of body weight (47.7% vs. 38%, P = 0.056, 95% CI=0.06 to +0.18. Comparative data of various health manifestations in lean vs. obese women with POCS [Table 4]. Of the health risk manifestations, hypertension occurred in both groups with a similar frequency (41% vs. 35.5%, P = 0.261, 95% CI=0.03 to +0.15. Group A showed an increased prevalence of IGT (25% vs. 10%, P = 0.000, 95% CI= 0.13-0.29 and type two diabetes mellitus (11.7% vs. 6%, P = 0.000, 95% CI= 0.13-0.29 as compared with group B. endometrial hyperplasia (EH also showed an increase prevalence in Group A compared with Group B (5.6% vs. 2%, P = 0.055, 95% CI= 0.01-0.08, although not statistically significant. Conclusion: PCOS emerges as a clinically heterogeneous condition with increased prevalence of health risks such as hypertension, diabetes and EH. Of these, diabetes and EH appear to be more prevalent in the obese, putting them at a greater risk of morbid problems at a much

  16. 以胃肠道出血首发的小肠间质瘤17例%Diagnosis and treatment of intestinal stromal tumors initially manifesting as gastrointestinal hemorrhage:an analysis of 17 cases

    Institute of Scientific and Technical Information of China (English)

    唐彤丹; 朱磊

    2011-01-01

    AIM: To improve the understanding, early diagnosis and treatment of intestinal stromal tumors initially manifesting as gastrointestinal bleeding.METHODS: The clinical data for 17 patients with intestinal stromal tumors initially manifesting as gastrointestinal hemorrhage were analyzed retrospectively, including clinical manifestations,hemoglobin concentration, intestinal computed tomography (CT) imaging data, pathological data, immunohistochemistry data, and followup data.RESULTS: Intestinal stromal tumors initially manifesting as gastrointestinal bleeding occurred more frequently in elderly patients whose average age was 58 years. Males were slightly more likely to suffer from the disease than females. Hematochezia and varying degrees of anemia were the major clinical manifestations.CT scan of the intestine was helpful for finding the tumors showing exophytic growth without lymphatic metastasis. Intestinal tumors, which presented as low-density, sharply marginated,lobulated or unlobulated soft masses, were found in 16 patients on CT scan. These tumors had an average computed tomographic value of 32 Hounsfield units. Enhanced CT scan showed that the majority of tumors exhibited inhomogeneous enhancement. All patients were positive for CD117. Histopathology and immunohisto-chemistry can help establish a confirmative diagnosis and conduct risk classification. Surgery was the first choice of treatment for the disease.CONCLUSION: CT scan is helpful in finding intestinal stromal tumors initially manifesting as gastrointestinal bleeding. The prognosis of intestinal stromal tumors could be improved by surgery and biological targeted therapy.%目的:提高对以胃肠道出血首发的小肠间质瘤的了解和早期诊治.方法:回顾性分析17例以胃肠道出血首发的小肠间质瘤患者的临床表现、血红蛋白水平、小肠CT表现、手术病理、免疫组织化学以及随访结果等临床资料.结果:以胃肠道出血首发的小肠间质瘤多

  17. Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up

    Directory of Open Access Journals (Sweden)

    Erica Dorigatti de-Avila

    2015-02-01

    Full Text Available Nevoid basal cell carcinoma (NBCCS or Gorlin-Goltz syndrome (GS is a multidisciplinary problem, the early diagnosis of which allows secondary prophylaxis that follows an appropriate regimen to delay progression of the syndrome. The aim of this study was to present a case of delayed diagnosis of GS in a young patient who received multidisciplinary treatment 5 years after onset. The patient presented for evaluation with painless swelling of the left maxilla. Histological examination confirmed the diagnosis of a keratocyst odontogenic tumor (KOT that was enucleated. On presentation, the patient's symptoms and clinical signs were not related to complications of GS, and the possibility of GS was initially rejected, as he did not have a family history of the syndrome. Four years after the first surgery to remove the lesion, the patient came to our clinic with a brown, pigmented lesion. Computed tomography revealed ectopic lamellar calcification of the falx cerebri, which was the conclusive factor for the diagnosis of GS. It is important that clinicians recognize the clinical signs of GS, which mainly manifests itself as multiple basal cell carcinomas in the skin. [Arch Clin Exp Surg 2015; 4(1.000: 49-53

  18. Herpes Simplex Virus Infection in a University Health Population: Clinical Manifestations, Epidemiology, and Implications

    Science.gov (United States)

    Horowitz, Robert; Aierstuck, Sara; Williams, Elizabeth A.; Melby, Bernette

    2010-01-01

    Objective: The authors described clinical presentations of oral and genital herpes simplex virus (HSV) infections in a university health population and implications of these findings. Participants and Methods: Using a standardized data collection tool, 215 records of patients with symptomatic culture-positive HSV infections were reviewed. Results:…

  19. Evaluation of Clinical Manifestations and Therapeutic and Diagnostic Progression of Dyspepsia in Children Referred to Boo-Ali Hospital of Sari in 2005-2

    Directory of Open Access Journals (Sweden)

    H. Karami, M.D.

    2007-09-01

    Full Text Available Background and purpose: Chronic abdominal pain is a common clinical problem in children. Apleys reported the incidence of 10-15% of chronic abdominal pain in school age children, but recent studies reported 20% of that type of pain. The aim of this study was determining the spectrum of clinical manifestations of dyspeptic children and to identify the relation between some clinical symptoms, organic or functional dyspepsia, and long term follow up of functional type.Materials and Methods: This descriptive case series study was done on 232 children between 4 and 18 years of age complaining about chronic abdominal pain chiefly who had referred to pediatric gastroenterology department of Boo-Ali Hospital of sari in 2005-2006. A checklist composed of patient demographic criteria and pain characteristics was prepared. Physical exam and laboratory tests such as AST, ALT, U/A, U/C, S/E, ESR, CBC were performed for all patients. If there were any alarming signs of organic abdominal pain-persistence or recurrence of symptoms and severe disability despite the use of H-blockers-upper GI endoscopies was indicated. Recorded data were analyzed by SPSS software and Chi- square tests.Results: 102 of 232 patients had dyspepsia; 59 were girls (9.2y/o, and 43 were boys (7.5y/o. 65 out of 102 patients had dominant abdominal pain and the rest had flatulence, vomiting and early fullness. 64 of them went under UGI endoscopies. 28 of 64 had mucosal erosion.Conclusion: Because the functional or organic abdominal pain has not unique diagnostic criteria, and the data about pathological change in children are fewer than that of adults we recommend the clinical findings and biochemical change of mucosa for differential diagnosis in children.

  20. Neurological Manifestations of Takayasu Arteritis

    Institute of Scientific and Technical Information of China (English)

    Li-xin Zhou; Jun Ni; Shan Gao; Bin Peng; Li-ying Cui

    2011-01-01

    Objective To investigate the clinical neurological manifestations of Takayasu arteritis (TA).Methods A retrospective study was conducted with 63 consecutive TA cases admitted to Peking Union Medical College Hospital from January 2009 to May 2010.All the patients fulfilled the diagnostic criteria of TA by the American College of Rheumatology.Among the 63 TA patients,27 with neurological manifestations were included in the present study.All the patients were evaluated using standardized neurological examination,sonography,computed tomography (CT) angiography,and cerebral CT or magnetic resonance imaging.Results Dizziness and visual disturbance were the most common symptoms,which occurred in 20 (74.1%) and 16 (59.3%) patients respectively.Another common symptom was headache,observed in 15 (55.6%) patients.Six (22.2%) patients had suffered from ischemic stroke; 7 (25.9%) patients had epileptic seizures.Two (7.4%) patients were diagnosed as reversible posterior encephalopathy syndrome (RPES) based on typical clinical and imaging manifestations.Conclusions Neurological manifestations are common symptoms in TA patients in the chronic phase,including dizziness,visual disturbance,headache,ischemic stroke,seizures,and some unusual ones such as RPES.We suggested RPES be included into the differential diagnosis of acute neurological changes in TA.

  1. Long-Term Clinical Outcomes According to Previous Manifestations of Atherosclerotic Disease (from the FAST-MI 2010 Registry).

    Science.gov (United States)

    Puymirat, Etienne; Aissaoui, Nadia; Lemesle, Gilles; Cottin, Yves; Coste, Pierre; Schiele, François; Ferrières, Jean; Simon, Tabassome; Danchin, Nicolas

    2017-03-01

    The prognosis of patients with acute myocardial infarction (AMI) has notably improved in the past 20 years. Using the French Registry of ST-Elevation and Non-ST-elevation Myocardial Infarction (FAST-MI) 2010 registry, we investigated whether previous manifestations of atherosclerotic disease (i.e., previous MI, or a history of any form of atherosclerotic disease) are at truly increased risk compared with those in whom AMI is the first manifestation of the disease. FAST-MI 2010 is a nationwide French registry including 3,079 patients with AMI, among whom 1,062 patients had a history of cardiovascular atherosclerotic disease and 498 patients had a history of MI. Overall, patients with a history of atherosclerotic disease (or MI) were older compared with patients without known cardiovascular disease (71 ± 13 vs 63 ± 14 years) and had higher cardiovascular risk profiles and co-morbidities. Using fully adjusted Cox multivariate analysis, previous manifestations of atherosclerotic disease were associated with higher 3-year mortality (hazard ratio 1.80, 95% confidence interval 1.40 to 2.31; p <0.001) as history of previous MI alone (hazard ratio 1.32, 95% confidence interval 1.00 to 1.73; p = 0.048). Similar results were found in patients discharged alive. In conclusion, previous cardiovascular atherosclerotic disease represents 1/3 of patients with AMI and are strongly associated with worse long-term clinical outcomes. Intensive follow-up and therapy should be encouraged in this high-risk population.

  2. CLINICAL AND IMMUNOLOGICAL FEATURES OF KIDNEY TRANSPLANT RECIPIENTS WITH CYTOMEGALOVIRUS INFECTION MANIFESTATION IN THE EARLY POSTOPERATIVE PERIOD

    Directory of Open Access Journals (Sweden)

    L. V. Limareva

    2013-01-01

    Full Text Available Aim. To optimize the management of postoperative renal allograft recipients through the introduction of methods for predicting risk of manifestation of cytomegalovirus infection on the basis of a comprehensive assessment of the clinical and immunological status. Materials and methods. We retrospectively analyzed the medical records of 303 patients with end-stage renal disease, among them – were the recipients of renal allograft – 136, among whom 29 within 2 months after the operation had clinical signs of CMV infection. Assessable "CMV syndrome", laboratory evidence of CMV infection, the incidence of antigens (genes of HLA A, B and DRB *1, calculated goodness of fit χ2 and relative risk RR, changes MCP-1 in urine. Results. In renal allograft recipients with clinical and laboratory evidence of CMV infection in the early postoperative period, significantly more (χ2 > 3,8 met antigen B35. A positive association with CMV infection was detected also for DRB1 * 08, B21, B22, B41, A24 (9, B51 (5, DRB1*14 and DRB1*15. Protective effects possessed antigens / alleles of genes A26 (10, B14, B38 (16 B61 (40 and DRB1*16. MCP-1 levels in this group of recipients were raised to 2174,7 ± 296,3 pg/ml with a strong negative correlation with the levels of urea and creatinine in serum (r = 0,9, p < 0.001. Conclusion. Immunological markers of risk manifestation of CMV infection in recipients of kidneys in the early postoperative period are: the carriage of В35 и В55,56(22, В49(21, В41, DRB1*08 и DRB1*15, an increase of levels of MCP-1 in urine without increasing the levels of urea and creatinine in the serum. 

  3. Polymorphic sites at the immunoregulatory CTLA-4 gene are associated with chronic chagas disease and its clinical manifestations.

    Directory of Open Access Journals (Sweden)

    Fabrício C Dias

    Full Text Available BACKGROUND: Chagas disease affects approximately 10 million people mainly in Latin America. The immune regulation by the host seems to be an essential factor for disease evolution, and immune system inhibitory molecules such as CTLA-4 and PD-1 favor the maintenance of peripheral tolerance. Considering that polymorphisms at the immunoregulatory CTLA-4 and PDCD1 genes may alter their inhibitory function, we investigated the association of alleles, genotypes and haplotypes of polymorphic sites observed at the CTLA-4 and PDCD1 genes with different clinical manifestations of chronic Chagas disease (indeterminate, cardiac, digestive and mixed. METHODS: The polymorphisms at the CTLA-4 (-1722T/C, -318C/T and +49A/G and PDCD1 (PD-1.3G/A genes were typed using TaqMan methodology in 277 chronic Chagas disease patients classified into four groups, according to clinical characteristics, and 326 non-infected controls. RESULTS: Our results showed that CTLA-4 -1722CC genotype (22%, -1722C allele (27% and CTLA-4 TCG (8.6%, TCA (26% and CCA (15% haplotypes were strongly associated with the indeterminate form, while the CTLA-4-318CT genotype (82% and CTLA-4-318T allele (47% were found mainly in patients with the mixed form of the disease. The CTLA-4 TCG haplotype (10.2% was associated with the digestive form. On the other hand, the PD-1.3G/A polymorphism was not associated with chronic Chagas disease and its clinical manifestations. CONCLUSIONS: Here, we showed that alleles, genotypes and haplotypes reported to increase the expression of the regulatory molecule CTLA-4 were associated with the indeterminate form of the disease. Taken together, our data support the idea that polymorphic sites at immunoregulatory genes may influence the development of Chagas disease variants.

  4. Clinical and allergological analysis of ocular manifestations of sick building syndrome

    Science.gov (United States)

    Saeki, Yusuke; Kadonosono, Kazuaki; Uchio, Eiichi

    2017-01-01

    Purpose The disease concept of sick building syndrome (SBS) is still unclear. Ocular mucous membrane irritation is one of the major symptoms of SBS. However, the immunological aspects of the ocular complications of SBS are not yet clarified. The clinical and allergological aspects of SBS cases with ocular disorders with special reference to allergic conjunctival diseases (ACD) were analyzed, especially with respect to local immunological features. Methods Twelve cases of SBS with ocular findings and 49 cases of ACD (allergic conjunctivitis [AC], atopic keratoconjunctivitis [AKC], and vernal keratoconjunctivitis [VKC]) for comparison were evaluated. The clinical findings in SBS and ACD were scored, and tear film breakup time (BUT) was measured. Cytokine (interferon-γ [IFN-γ], interleukin [IL]-2, IL-4, IL-5, IL-6, IL-8, and IL-13) concentrations in tears were analyzed by cytometric bead arrays. Eosinophil count in peripheral blood, total IgE in serum, and multiple allergen simultaneous test (MAST) for antigen-specific IgE were also measured. Results In SBS, conjunctival lesions were observed in all cases, and corneal abnormalities were found in two-thirds of the cases. Limbal lesions were observed in 2 pediatric cases. Mean serum total IgE level in SBS was significantly higher than that in AC; however, it was significantly lower than that in AKC and VKC. Eosinophil count in peripheral blood and number of positive allergens in MAST were significantly lower in SBS than in AKC and VKC. Significant elevation of tear IL-4 was observed in SBS and ACD. However, in contrast to ACD, elevation of other cytokines in tears was not observed in SBS. Mean tear BUT in SBS was in the normal range. Conclusion From these results, SBS is thought to be partially induced by an allergic response. However, clinical dissociation of the ocular clinical findings and local immunological features in tear cytokines may suggest that SBS belongs to a different entity from ACD. PMID:28352150

  5. Zika and Spondweni Viruses: Historic Evidence of Misidentification, Misdiagnosis and Serious Clinical Disease Manifestations

    Science.gov (United States)

    2016-10-01

    3-5). Consequently, the clinical case 42 reports by MacNamara (2), the work by Bearcroft (6) involving the experimental infection of a 43 human ...and utilize a mosquito/host (non- human 52 primate and/or human ) transmission cycle. ZIKV has a wide geographic distribution that 53 includes East...unlimited. UNCLASSIFIED 5 reproductive years. The extent of cross-protection exhibited within the Spondweni Serogroup is 70 unknown, and cross

  6. Correlation between radiologic and ultrasonographic patterns and clinical manifestations in symptomatic hip osteoarthritis

    Directory of Open Access Journals (Sweden)

    A. Alimonti

    2011-09-01

    Full Text Available Increasing amounts of data have recenlty been published regarding ultrasonographic (US findings of osteoarthritic joints, but very few data concern hip joints. In the current study we described US patterns concerning 490 patients affected by symptomatic hip osteoarthritis (OA who underwent to intra-articular injections of hyaluronic products under US guidance. All patients were studied by US and X-ray of hip, clinical evaluation was assessed by the followings indexes: Lequesne, pain VAS, ICED, Global Physician Assessment and Global Patient Assessment. US findings were summarized in four main patterns, effusion and synovial proliferation were also detected. The aim of this study was to correlate US findings with clinical assessment and radiographic findings (according to Kellegren- Lawrence classification. Pearson’s r correlation coefficient were computed and come out significant and positive between X ray and US patterns and between clinical indexes and US patterns. Also the correlation between K-L score and US patterns showed a significant positive correlation indicating that higher K-L scores are associated with increasing abnormal US findings. Our data suggest that ultrasonography of the hip may give useful information about the state of synovial membrane, synovial fluid, joint margins and bone profile in hip OA. Further studies are needed to evaluate their prevalence in hip OA symptomatic and not-symptomatic patients and their correlation to treatment outcome.

  7. Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Lakdawala, Neal K; Thune, Jens J; Colan, Steven D;

    2012-01-01

    Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere ...

  8. Anti-TNFα-therapy as an evidence-based treatment option for different clinical manifestations of psoriatic arthritis.

    Science.gov (United States)

    Köhm, Michaela; Burkhardt, Harald; Behrens, Frank

    2015-01-01

    The development programmes of different TNF-blocking agents in psoriatic arthritis (PsA) not only provided substantial evidence for the therapeutic benefits of the specific treatment options, but also enabled new insights into the differential treatment effects on distinct disease manifestations. For the first time, specific robust evidence for distinctive effects on different manifestations of PsA, as a distinct entity separate from rheumatoid arthritis (RA), has been generated in a standardized way. The clearest evidence was shown for an effect on peripheral arthritis (polyarticular) with ACR20 response rates from 45 up to 58% (vs. 9-24% for placebo), and an inhibition of radiographic progression demonstrated for the first time for a treatment principle in PsA. However, as PsA does not remain confined to the peripheral joints, it was necessary to address diverse patterns of PsA-subtypes in the outcome measurements of the anti-TNF trials. Accordingly, the results of the clinical studies on anti-TNF treatment also have demonstrated efficacy on enthesitis, dactylitis and skin psoriasis, either in sub analysis of results from phase III RCTs, or in additional prospective studies.

  9. Cutaneous Leishmaniasis in Khyber Pakhtunkhwa Province of Pakistan: Clinical Diversity and Species-Level Diagnosis

    Science.gov (United States)

    Khan, Nazma Habib; Bari, Arfan ul; Hashim, Rizwan; Khan, Inamullah; Muneer, Akhtar; Shah, Akram; Wahid, Sobia; Yardley, Vanessa; O'Neil, Brighid; Sutherland, Colin J.

    2016-01-01

    This study primarily aimed to identify the causative species of cutaneous leishmaniasis (CL) in the Khyber Pakhtunkhwa Province of Pakistan and to distinguish any species-specific variation in clinical manifestation of CL. Diagnostic performance of different techniques for identifying CL was assessed. Isolates of Leishmania spp. were detected by in vitro culture, polymerase chain reaction (PCR) on DNA extracted from dried filter papers and microscopic examination of direct lesion smears from patients visiting three major primary care hospitals in Peshawar. A total of 125 CL patients were evaluated. Many acquired the disease from Peshawar and the neighboring tribal area of Khyber Agency. Military personnel acquired CL while deployed in north and south Waziristan. Leishmania tropica was identified as the predominant infecting organism in this study (89.2%) followed by Leishmania major (6.8%) and, unexpectedly, Leishmania infantum (4.1%). These were the first reported cases of CL caused by L. infantum in Pakistan. PCR diagnosis targeting kinetoplast DNA was the most sensitive diagnostic method, identifying 86.5% of all samples found positive by any other method. Other methods were as follows: ribosomal DNA PCR (78.4%), internal transcribed spacer 2 region PCR (70.3%), culture (67.1%), and microscopy (60.5%). Clinical examination reported 14 atypical forms of CL. Atypical lesions were not significantly associated with the infecting Leishmania species, nor with “dry” or “wet” appearance of lesions. Findings from this study provide a platform for species typing of CL patients in Pakistan, utilizing a combination of in vitro culture and molecular diagnostics. Moreover, the clinical diversity described herein can benefit clinicians in devising differential diagnosis of the disease. PMID:27601518

  10. Uncommon manifestations of scrub typhus encephalitis in two cases: Clinical and magnetic resonance imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Heo, Young Jin; Jeong, Hae Woong [Dept. of Radiology, Inje University Busan Paik Hospital, Busan (Korea, Republic of)

    2015-11-15

    Scrub typhus is a well-known acute febrile illness caused by Orientia tsutsugamushi. This disease has multiorgan involvement, which includes the lungs, heart, liver, spleen, and the central or peripheral nervous system. Scrub typhus involving the central nervous system (CNS) is not rare. However, meningitis and meningoencephalitis can cause changes in mentation and death and are therefore associated with a poor prognosis. We report two consecutive cases of scrub typhus with CNS involvement. One patient presented with extensive white matter involvement, similar to that observed in acute disseminated encephalomyelitis, whereas the other patient presented with subependymal enhancement along the lateral ventricles. To the best of our knowledge, scrub typhus encephalitis, with extensive white matter involvement and subependymal enhancement, are very rarely described findings in the previous literature. Our patients did not show complete recovery, but the symptoms resolved with treatment. Recognizing these uncommon radiologic findings of scrub typhus may be helpful in the early diagnosis of scrub typhus with CNS involvement, which may alter the prognoses of patients.

  11. Current approach to masked hypertension: From diagnosis to clinical management.

    LENUS (Irish Health Repository)

    Dolan, Eamon

    2013-11-28

    The term masked hypertension phenomenon was first described by the late Professor Thomas Pickering and is commonly defined as having a normal clinic blood pressure (BP) but an elevated "out of office" reading. In the main these elevated readings have been provided through ambulatory blood pressure monitoring (ABPM) but sometimes home BP monitoring is used. It is now largely accepted that ABPM gives a better classification of risk than clinic BP. Thus the elevated ABPM levels should relate to higher cardiovascular risk and it follows that these people might be regarded as being genuinely hypertensive and at higher cardiovascular risk. The problem for clinical practice is how to identify and manage these subjects. The phenomenon should be suspected in subjects who have had an elevated clinic BP at some time, in young subjects with normal or normal-high clinic BP who have early left ventricular hypertrophy, in subjects with a family history of hypertension in both parents, patients with multiple risks for cardiovascular disease and perhaps diabetic patients. It appears to be more prevalent in subjects of male gender, with younger age, higher heart rate, obesity or high cholesterol levels and in smokers. Those with masked hypertension are at higher risk of events such as stroke and have a higher prevalence of target organ damage, for example, nephropathy. In conclusion most of the debate around this topic relates to its reliable identification. Given the higher ambulatory readings there is an increases cardiovascular risk making this diagnosis important. This article is protected by copyright. All rights reserved.

  12. Clinical diagnosis versus autopsy findings in polytrauma fatalities

    Directory of Open Access Journals (Sweden)

    Fakler Johannes K

    2010-10-01

    Full Text Available Abstract Objectives The aim of the study was to determine if differences in clinical diagnosis versus autopsy findings concerning the cause of death in polytrauma fatalities would be detected in 19 cases of fatal polytrauma from a Level 1 trauma centre. Methods Clinical diagnoses determining the cause of death in 19 cases of fatal polytrauma (2007 - 2008 from a Level 1 trauma centre were correlated with autopsy findings. Results In 13 cases (68%, the clinical cause of death and the cause of death as determined by autopsy were congruent. Marginal differences occurred in three (16% patients while obvious differences in interpreting the cause of death were found in another three (16% cases. Five fatalities (three with obvious differences and two with marginal differences were remarked as early death (1-4 h after trauma and one fatality with marginal differences as late death (>1 week after trauma. Obvious and marginal discrepancies mostly occurred in the early phase of treatment, especially when severely injured patients were admitted to the emergency room undergoing continued cardiopulmonary resuscitation, i. e. limiting diagnostic procedures, and thus the clinical cause of death was essentially determined by basic emergency diagnostics. Conclusions Autopsy as golden standard to define the cause of death in fatal polytrauma varies from the clinical point of view, depending on the patient's pre-existing condition, mechanism of polytrauma, necessity of traumatic cardiopulmonary resuscitation, survival time, and thus the possibility to perform emergency diagnostics. An autopsy should be performed at least in cases of early fatal polytrauma to help establishing the definite cause of death. Moreover, autopsy data should be included in trauma registries as a quality assessment tool.

  13. Novel Cutaneous Manifestations of Pleuroparenchymal Fibroelastosis.

    Science.gov (United States)

    Lowther, Christopher M; Morrison, Annie O; Candelario, Nicole M; Khalafbeigi, Sheva; Cockerell, Clay J

    2016-10-01

    Pleuroparenchymal fibroelastosis (PPFE) is a rare progressive disease that manifests as parenchymal fibrosis of the upper lobe and pleura. Approximately 100 cases have been reported. Cutaneous manifestations of PPFE have not previously been described. Diagnosis is dependent on histologic identification of fibrosis with atypical elastic fibers, necessitating an invasive peripheral lung wedge biopsy.A 68-year-old male with a history of pleuroparenchymal fibroelastosis presented with an asymptomatic, telangiectatic erythematous eruption on bilateral lower extremities. Biopsies demonstrated a subtle perivascular infiltrate with marked increase in atypical elastic fibers, similar to the elastosis in the patient's lungs.This is the first documented case of cutaneous manifestations in PPFE. Clinicians need to be aware that cutaneous eruptions clinically simulating telangiectasia macularis eruptiva perstans but lacking a mast cell infiltrate histologically, may have increased abnormal elastic fibers. Thus, early recognition of these lesions in patients with an undefined restrictive lung disorder, may facilitate the diagnosis of PPFE in some patients.

  14. Clinical diagnosis and management in early Huntington's disease: a review

    Directory of Open Access Journals (Sweden)

    Schiefer J

    2015-03-01

    Full Text Available Johannes Schiefer,1,* Cornelius J Werner,1,* Kathrin Reetz1,2 1Euregional Huntington Center, 2Jülich Aachen Research Alliance (JARA – Translational Brain Medicine, Department of Neurology, RWTH Aachen University, Aachen, Germany *These authors contributed equally to this work Abstract: This review focuses on clinical diagnosis and both pharmacological and nonpharmacological therapeutic options in early stages of the autosomal dominant inherited neurodegenerative Huntington's disease (HD. The available literature has been reviewed for motor, cognitive, and psychiatric alterations, which are the three major symptom domains of this devastating progressive disease. From a clinical point of view, one has to be aware that the HD phenotype can vary highly across individuals and during the course of the disease. Also, symptoms in juvenile HD can differ substantially from those with adult-onset of HD. Although there is no cure of HD and management is limited, motor and psychiatric symptoms often respond to pharmacotherapy, and nonpharmacological approaches as well as supportive care are essential. International treatment recommendations based on study results, critical statements, and expert opinions have been included. This review is restricted to symptomatic and supportive approaches since all attempts to establish a cure for the disease or modifying therapies have failed so far. Keywords: Neurodegeneration, clinical picture, early symptoms, therapy, treatment

  15. Temporal bone trauma: correlative study between CT findings and clinical manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung Hee; Kim, Hyung Jin; Kim, Jae Hyoung [College of Medicine, Gyeongsang National University, Jinju (Korea, Republic of)

    1994-11-15

    To assess how accurately computed tomography (CT) can demonstrate the abnormal findings which are believed to cause the clinical signs and symptoms of hearing loss (HL), vertigo and facial paralysis (FP) in patients with temporal bone trauma. The authors studied CT scans of 39 ears in 35 patients with temporal bone trauma. CT scans were performed with 1-1.5 mm slice thickness and table incrementation. Both axial and coronal scans were obtained in 32 patients and in three patients only axial scans were obtained. We analyzed CT with special reference to the structural abnormalities of the external auditory canal, middle ear cavity, bony labyrinth, and facial nerve canal, and correlated these findings with the actual clinical signs and symptoms. As to hearing loss, we evaluated 32 ears in which pure tone audiometry or brainstem evoked response audiometry had been performed. With respect to the specific types of HL, CT accurately showed the abnormalities in 84% (16/19) in conductive HL, 100% (2/2) in sensorineural HL, and 25% (2/8) for mixed HL. When we categorized HL simply as conductive and sensorineural, assuming that mixed be the result of combined conductive and sensorineural HL, CT demonstrated the abnormalities in 89% (24/27) for conductive HL and 50% (5/10) for sensorineural HL. Concerning vertigo and FP, CT demonstrated abnormalities in 67%(4/6), and 29% (4/14), respectively. Except for conductive HL, CT seems to have a variable degree of limitation for the demonstration of the structural abnormalities resulting sensorineural HL, vertigo or facial paralysis. It is imperative to correlate the CT findings with the signs and symptoms in those clinical settings.

  16. A SONOGRAPHIC SHORT CERVIX AS THE ONLY CLINICAL MANIFESTATION OF INTRA-AMNIOTIC INFECTION

    Science.gov (United States)

    HASSAN, SONIA; ROMERO, ROBERTO; HENDLER, ISRAEL; GOMEZ, RICARDO; KHALEK, NAHLA; ESPINOZA, JIMMY; NIEN, JYH KAE; BERRY, STANLEY M.; BUJOLD, EMMANUEL; CAMACHO, NATALIA; SOROKIN, YORAM

    2006-01-01

    OBJECTIVE A sonographically short cervix is a powerful predictor of spontaneous preterm delivery. However, the etiology and optimal management of a patient with a short cervix in the mid-trimester of pregnancy remain uncertain. Microbial invasion of the amniotic cavity (MIAC) and intra-amniotic inflammation are frequently present in patients with spontaneous preterm labor or acute cervical insufficiency. This study was conducted to determine the rate of MIAC and intra-amniotic inflammation in patients with a cervical length <25 mm in the mid-trimester. STUDY DESIGN A retrospective cohort study was conducted of patients referred to our high risk clinic because of a sonographic short cervix or a history of a previous preterm birth. Amniocenteses were performed for the evaluation of MIAC and for karyotype analysis in patients with a short cervix. Fluid was cultured for aerobic and anaerobic bacteria, as well as genital mycoplasmas. Patients with MIAC were treated with antibiotics selected by their physician. RESULTS Of 152 patients with a short cervix at 14–24 weeks, 57 had amniotic fluid analysis. The prevalence of MIAC was 9% (5/57). Among these patients, the rate of preterm delivery (<32 weeks) was 40% (2/5). Microorganisms isolated from amniotic fluid included Ureaplasma urealyticum (n=4) and Fusobacterium nucleatum (n=1). Patients with a positive culture for Ureaplasma urealyticum received intravenous Azithromycin. Three patients with Ureaplasma urealyticum had a sterile amniotic fluid culture after treatment, and subsequently delivered at term. The patient with Fusobacterium nucleatum developed clinical chorioamnionitis and was induced. CONCLUSION 1) Sub-clinical MIAC was detected in 9% of patients with a sonographically short cervix (<25 mm); and 2) maternal parenteral treatment with antibiotics can eradicate MIAC caused by Ureaplasma urealyticum. This was associated with delivery at term in the three patients whose successful treatment was documented by

  17. VGKC-complex/LGI1-antibody encephalitis: clinical manifestations and response to immunotherapy.

    Science.gov (United States)

    Shin, Yong-Won; Lee, Soon-Tae; Shin, Jung-Won; Moon, Jangsup; Lim, Jung-Ah; Byun, Jung-Ick; Kim, Tae-Joon; Lee, Keon-Joo; Kim, Young-Su; Park, Kyung-Il; Jung, Keun-Hwa; Lee, Sang Kun; Chu, Kon

    2013-12-15

    Leucine-rich glioma inactivated 1 (LGI1) was recently identified as a target protein in autoimmune synaptic encephalitis, a rare condition associated with autoantibodies against structures in the neuronal synapse. Studies dealing with LGI1 are small in number and the various outcomes of different therapeutic regimens are not well studied. Here, we analyzed clinical characteristics of 14 patients with LGI1 antibodies, and outcomes according to therapeutic strategies. Most patients exhibited abnormal brain positron emission tomography and that patients treated with steroids alone were more likely to relapse and had less favorable outcomes than those treated with steroids and intravenous immunoglobulins.

  18. Progress in the research of genetics and clinical manifestation of paroxysmal kinesigenic dyskinesia

    Directory of Open Access Journals (Sweden)

    HUANG Xiao-jun

    2013-05-01

    Full Text Available Paroxysmal kinesigenic dyskinesia (PKD is a disorder characterized by recurrent and brief attacks that are induced by sudden voluntary movement with highly clinical and genetic heterogeneity. Familial PKD are mostly autosomal dominant inherited and proline-rich transmembrare protein 2 (PRRT2 gene has been identified as the causative gene for PKD. So far 56 mutations have been documented and most of them are nonsense ones. No obvious genotype-phenotype correlation has been observed and the function of PRRT2 is still unclear, but the interaction between PRRT2 and synaptosomal-associated protein 25 (SNAP25 will shed the light on the research of PKD mechanism.

  19. Acromegaly with Normal Insulin-Like Growth Factor-1 Levels and Congestive Heart Failure as the First Clinical Manifestation.

    Science.gov (United States)

    Lee, Hyae Min; Lee, Sun Hee; Yang, In Ho; Hwang, In Kyoung; Hwang, You Cheol; Ahn, Kyu Jeung; Chung, Ho Yeon; Hwang, Hui Jeong; Jeong, In Kyung

    2015-09-01

    The leading cause of morbidity and mortality in patients with acromegaly is cardiovascular complications. Myocardial exposure to excessive growth hormone can cause ventricular hypertrophy, hypertension, arrhythmia, and diastolic dysfunction. However, congestive heart failure as a result of systolic dysfunction is observed only rarely in patients with acromegaly. Most cases of acromegaly exhibit high levels of serum insulin-like growth factor-1 (IGF-1). Acromegaly with normal IGF-1 levels is rare and difficult to diagnose. Here, we report a rare case of an acromegalic patient whose first clinical manifestation was severe congestive heart failure, despite normal IGF-1 levels. We diagnosed acromegaly using a glucose-loading growth hormone suppression test. Cardiac function and myocardial hypertrophy improved 6 months after transsphenoidal resection of a pituitary adenoma.

  20. Acromegaly with Normal Insulin-Like Growth Factor-1 Levels and Congestive Heart Failure as the First Clinical Manifestation

    Directory of Open Access Journals (Sweden)

    Hyae Min Lee

    2015-09-01

    Full Text Available The leading cause of morbidity and mortality in patients with acromegaly is cardiovascular complications. Myocardial exposure to excessive growth hormone can cause ventricular hypertrophy, hypertension, arrhythmia, and diastolic dysfunction. However, congestive heart failure as a result of systolic dysfunction is observed only rarely in patients with acromegaly. Most cases of acromegaly exhibit high levels of serum insulin-like growth factor-1 (IGF-1. Acromegaly with normal IGF-1 levels is rare and difficult to diagnose. Here, we report a rare case of an acromegalic patient whose first clinical manifestation was severe congestive heart failure, despite normal IGF-1 levels. We diagnosed acromegaly using a glucose-loading growth hormone suppression test. Cardiac function and myocardial hypertrophy improved 6 months after transsphenoidal resection of a pituitary adenoma.

  1. Surface Plasmon Resonance for Cell-Based Clinical Diagnosis

    Directory of Open Access Journals (Sweden)

    Yuhki Yanase

    2014-03-01

    Full Text Available Non-invasive real-time observations and the evaluation of living cell conditions and functions are increasingly demanded in life sciences. Surface plasmon resonance (SPR sensors detect the refractive index (RI changes on the surface of sensor chips in label-free and on a real-time basis. Using SPR sensors, we and other groups have developed techniques to evaluate living cells’ reactions in response to stimuli without any labeling in a real-time manner. The SPR imaging (SPRI system for living cells may visualize single cell reactions and has the potential to expand application of SPR cell sensing for clinical diagnosis, such as multi-array cell diagnostic systems and detection of malignant cells among normal cells in combination with rapid cell isolation techniques.

  2. Juvenile idiopathic arthritis: clinically relevant imaging in diagnosis and monitoring

    Energy Technology Data Exchange (ETDEWEB)

    Southwood, Tauny [Birmingham Children' s Hospital NHS Foundation Trust, Department of Rheumatology, Birmingham (United Kingdom)

    2008-06-15

    The role of plain radiographs in monitoring the disease process in JIA is being increasingly superseded by MRI. The use of ultrasound by clinicians is contentious, but has the potential to corroborate and supplement the clinical impression of individual joint inflammation and it can be very useful for localising intra-articular treatment at the bedside. There are exciting developments in MRS technology which may eventually allow in vivo evaluation of the acute inflammatory process, measurement of early responses to treatment and detection of residual inflammation. The aim of this article is to describe a clinician's view of the current role of imaging in the diagnosis and monitoring of JIA. (orig.)

  3. Dementia with Parkinson's disease: Clinical diagnosis, neuropsychological aspects and treatment

    Directory of Open Access Journals (Sweden)

    Jorge Lorenzo Otero

    Full Text Available Abstract Dementia with Parkinson's disease represents a controversial issue in the complex group of alpha-synucleinopathies. The author acknowledges the concept of a "continuum" between Parkinson disease's (PD, Lewy body dementia (LBD, and dementia in Parkinson's disease (PDD. However, the practicing neurologist needs to identify the phenotypic signs of each dementia. The treatment and prognosis are different in spite of the overlaps between them. The main aim of this review was to characterize the clinical diagnoses of dementia associated with Parkinson's disease (PDD. Secondarily, the review discussed some epidemiological and neuropsychological issues. Selection of articles was not systematic and reflects the author's opinion, where the main text selected was the recommendations from the Movement Disorder Society Task Force for PDD diagnosis. The Pub Med, OVID, and Proquest data bases were used for the search.

  4. SLAP lesions: Anatomy, clinical presentation, MR imaging diagnosis and characterization

    Energy Technology Data Exchange (ETDEWEB)

    Chang, Debra [University of California San Diego, Department of Radiology, 200 W. Arbor Drive, San Diego, CA 92103 (United States); VA Healthcare System San Diego, Department of Radiology, 3350 La Jolla Village Drive, La Jolla, CA 92161 (United States); MedRay Imaging and Fraser Health Authority, Vancouver, BC (Canada)], E-mail: cbchung@ucsd.edu; Mohana-Borges, Aurea; Borso, Maya; Chung, Christine B. [University of California San Diego, Department of Radiology, 200 W. Arbor Drive, San Diego, CA 92103 (United States); VA Healthcare System San Diego, Department of Radiology, 3350 La Jolla Village Drive, La Jolla, CA 92161 (United States)

    2008-10-15

    ABSTRACT: Superior labral anterior posterior (SLAP) tears are an abnormality of the superior labrum usually centered on the attachment of the long head of the biceps tendon. Tears are commonly caused by repetitive overhead motion or fall on an outstretched arm. SLAP lesions can lead to shoulder pain and instability. Clinical diagnosis is difficult thus imaging plays a key diagnostic role. The normal anatomic variability of the capsulolabral complex can make SLAP lesions a diagnostic challenge. Concurrent shoulder injuries are often present including rotator cuff tears, cystic changes or marrow edema in the humeral head, capsular laxity, Hill-Sachs or Bankart lesion. The relevant anatomy, capsulolabral anatomic variants, primary and secondary findings of SLAP tears including MR arthrography findings, types of SLAP lesions and a practical approach to labral lesions are reviewed.

  5. CLINICAL AND LABORATORY MANIFESTATIONS OF THROMBOCYTOPENIA IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS

    Directory of Open Access Journals (Sweden)

    I. Salehi.

    1997-06-01

    Full Text Available In systemic lupus erythematosus- (SLE various antibodies are produced against cells including platelets and result in thrombocytopenia. In the literature, the incidence of thrombocytopenia varied from 7% to 52%, in seven series of SLE patients with a mean cumulative percentage of 14.5% (1-5. SLE patients referred to the Lupus Unit of the Rheumatology Research Center, Tehran University for Medical Sciences (Shariati Hospital during the period of 1975 to 1977 were included in this study. T/irombocytopenic patients were selected and 72 items were studied. Tiie incidence of thrombocytopenia in Iranian SLE patients was 16.6%, which is similar to the mean cumulative percentage mentioned above. There was no difference in sex ratio between thrombocytopenic ami nonthrombocytopenic patients: Tiie same was true for the mean age at the onset of the disease. In 70% of patients there was mild to moderate thrombocytopenia (platelet from 50000 to lS0000/mm3. the remaining (30% had severe to very severe thrombocytopenia. In 1.9% of patients had a previous diagnosis of idiopathic thrombocytopenic purpura (ITP. the following symptoms were seen more oflen in thrombocy¬topenic patients than in others: Hemolytic anemia (p<0.001, leukopenia (p<0.001, lymphopenia (p<0.001, splenomegaly (p<0.00007, and abortion (p<0.0006. For the fallowings the p value was less than 0.05: ESR> 700, positive FANA, positive Anti-dsDNA antibodies, positive VDRL, and positive anticardiolipin antibodies. All thrombocytopenic patients' except one (previously sptenectomized were controlled by the medical treatment. Severe and very severe thrombocytopenia were controlled in 86% of cases by moderate to high dose steroids, with or without cytotoxic drugs: In 10% of cases, thrombocytopenia was controlled by a combination of chloroquine and low dose steroid (< 15 mg prednisolone daily. In 4%, other medical treatments (Danazol, etc. were needed.

  6. A survey of clinical manifestations and risk factors in women with Dupuytren's disease.

    Science.gov (United States)

    Degreef, Ilse; Steeno, Pieter; De Smet, Luc

    2008-08-01

    Dupuytren's disease is very common, with a prevalence of up to 40% in the Scandinavian population. Although many epidemiological surveys have been conducted, little is known about its aetiology. Multiple risk factors in Dupuytren's disease have been identified. About 80% of the affected patients are male. Even though recent data suggest similar outcome after surgical treatment in the female patient, recurrence after surgery is more frequent. To assess Dupuytren's disease in women, a record analysis and a survey of risk factors was conducted in 130 female patients surgically treated at our institution between 1988 and 2005. With a response rate of 52%, 65 women were included (6 patients were confirmed dead). The mean age of onset of the disease was 50 years and 6 months. After a mean follow-up of 7 years and 7 months (2y1m to 21y9m), recurrent disease after surgery was reported in 42%. Bilateral disease was present in 54%, unilateral in 26% right and 20% left hands. The fifth finger was involved in 77%, the 4th finger in 48% and the 1st ray in 14%. Ectopic lesions were seen in 19%, with a positive family history in 55%. Only one patient had a confirmed alcohol abuse; 22% were smokers. There were 32% manual workers. Shoulder pain was present in 54% of the patients, with confirmed diagnosis of frozen shoulder syndrome in 45%. High cholesterol was diagnosed in 39% and only 6% had diabetes. Epilepsy was seen in 5%. High disease recurrence and factors related to an aggressive course of the disease are present in female patients with Dupuytren's contracture, with a high family history occurrence, bilateral disease and associated Ledderhose disease. Several known risk factors were present: high cholesterol, smoking and manual work. Frozen shoulder showed a very high prevalence in women with Dupuytren's disease.

  7. Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.

    Science.gov (United States)

    Kim, Ok-Hwa; Jin, Dong-Kyu; Kosaki, Keisuke; Kim, Jung-Wook; Cho, Sung Yoon; Yoo, Won Joon; Choi, In Ho; Nishimura, Gen; Ikegawa, Shiro; Cho, Tae-Joon

    2013-08-01

    Osteogenesis imperfecta (OI) type V is a specific OI phenotype with interosseous membrane calcification of the forearm and hyperplastic callus formation as typical features. The causative gene mutation for OI type V has been recently discovered. The purpose of this report is to review the clinical and radiographic characteristics of mutation confirmed OI type V in detail. Sixteen (nine familial and seven sporadic) patients were enrolled in the study. Blue sclera and dentinogenesis imperfecta were not evident in any patient. However, hypodontia in the permanent teeth, ectopic eruption, and short roots in molars were additionally observed in 11 patients. Of the radiographic abnormalities, cortical thickening and bony excrescence of interosseous margin of the ulna was the most common finding, followed by overgrowth of the olecranon and/or coronoid process of the ulna. Slender ribs and sloping of the posterior ribs with or without fractures were also a consistent finding. Hyperplastic callus was detected in 75% of patients and was commonly encountered at the femur. Heterotopic ossification in the muscles and tendon insertion sites were noted in four patients, which resulted in bony ankylosis or contracture of joints. The current study confirms common clinical and radiographic findings of OI type V and reports additional phenotypic information. These observations provide clues to recognize OI type V more promptly and guide to direct targeted molecular study. © 2013 Wiley Periodicals, Inc.

  8. Epidemiology, clinical manifestations, and outcomes of Streptococcus suis infection in humans.

    Science.gov (United States)

    Huong, Vu Thi Lan; Ha, Ngo; Huy, Nguyen Tien; Horby, Peter; Nghia, Ho Dang Trung; Thiem, Vu Dinh; Zhu, Xiaotong; Hoa, Ngo Thi; Hien, Tran Tinh; Zamora, Javier; Schultsz, Constance; Wertheim, Heiman Frank Louis; Hirayama, Kenji

    2014-07-01

    Streptococcus suis, a bacterium that affects pigs, is a neglected pathogen that causes systemic disease in humans. We conducted a systematic review and meta-analysis to summarize global estimates of the epidemiology, clinical characteristics, and outcomes of this zoonosis. We searched main literature databases for all studies through December 2012 using the search term "streptococcus suis." The prevalence of S. suis infection is highest in Asia; the primary risk factors are occupational exposure and eating of contaminated food. The pooled proportions of case-patients with pig-related occupations and history of eating high-risk food were 38.1% and 37.3%, respectively. The main clinical syndrome was meningitis (pooled rate 68.0%), followed by sepsis, arthritis, endocarditis, and endophthalmitis. The pooled case-fatality rate was 12.8%. Sequelae included hearing loss (39.1%) and vestibular dysfunction (22.7%). Our analysis identified gaps in the literature, particularly in assessing risk factors and sequelae of this infection.

  9. Functional state of kidneys in patients with clinical manifestations of hypothyroidism

    Directory of Open Access Journals (Sweden)

    Marina M. Orlova

    2013-05-01

    Full Text Available The research goal is to study the function of kidneys and serum concentration of immunoregulatory cytokines (IL-1ß, IL-6, IL-8, IL-10 in conditions of thyroid hormone deficit. Methods – The character and severity of renal dysfunction were investigated in patients with primary hypothyroidism. The clinical examination included study of serum concentration of creatinine, urea level, potassium and natrium in blood serum, blood and urine analyses, total cholesterol, high and low density lipoproteins, daily microalbuminuria, the performing of Zimnitsky test, urinary excretion of chemokines MCP-1, RANTES, rate calculation of glomerular filtration, thyroid hormone state. Results – The renal function in clinical hypothyroidism without concomitant kidney disturbances was characterized by normal parameters of the concentrational kidney function, reduction of glomerular filtration rate, increased of serum creatinine, urea excretion level of chemokineMCP-1 and level of cytokines IL-6, IL-8 in patients with autoimmune hypothyroidism were revealed. Conclusion – It was revealed that autoimmune hypothyroidism effected balance disturbance of cytokine-producing activity of Th1 and Th2 type therefore developing autoimmune state and disease progression.

  10. Functional state of kidneys in patients with clinical manifestations of hypothyroidism

    Directory of Open Access Journals (Sweden)

    Rodionova T.I.

    2012-06-01

    Full Text Available The research goal is to study the function of kidneys and serum concentration of immunoregulatory cytokines (IL-1ГА, IL-6, IL-8, IL-10 in conditions of thyroid hormone deficit. Methods: The character and severity of renal dysfunction were investigated in patients with primary hypothyroidism. The clinical examination included study of serum concentration of creatinine, urea level, potassium and natrium in blood serum, blood and urine analyses, total cholesterol, high and low density lipoproteins, daily microalbuminuria, the performing of Zimnitsky test, urinary excretion of chemokines MCP-1, RANTES, rate calculation of glomerular filtration, thyroid hormone state. Results: The renal function in clinical hypothyroidism without concomitant kidney disturbances was characterized by normal parameters of the concentra-tional kidney function, reduction of glomerular filtration rate, increased of serum creatinine, urea excretion level of chemokine MCP-1 and level of cytokines IL-6, IL-8 in patients with autoimmune hypothyroidism were revealed. Conclusion: It was revealed that autoimmune hypothyroidism effected balance disturbance of cytokine-producing activity of Th1 and Th2 type therefore developing autoimmune state and disease progression

  11. Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog.

    Science.gov (United States)

    Zucconi, Eder; Valadares, Marcos Costa; Vieira, Natássia M; Bueno, Carlos R; Secco, Mariane; Jazedje, Tatiana; da Silva, Helga Cristina Almeida; Vainzof, Mariz; Zatz, Mayana

    2010-01-01

    Of the various genetic homologues to Duchenne Muscular Dystrophy (DMD), the Golden Retriever Muscular Dystrophy (GRMD) dog, which presents a variable but usually severe and progressive muscle weakness, has the closest relevance to DMD in both clinical severity and histopathological change. Among 77 GRMD dogs born in our colony in Brazil, we have identified a very mildly affected dog, Ringo, born July 2003. Among his descendants, at least one male, Suflair, is also showing a mild course. In an attempt to better characterize these two dogs, we studied the pattern of muscle proteins expression in Ringo and Suflair, as compared to severely affected and normal control dogs. Dystrophin was absent in both and utrophin was overexpressed in a pattern similar to the observed in severely affected dogs. Understanding the mechanism that is protecting Ringo and Suflair from the deleterious effect of the dystrophin gene mutation is of utmost interest. In addition it points out that the clinical impact of therapeutic trials should be interpreted with caution.

  12. The relevance of "non-criteria" clinical manifestations of antiphospholipid syndrome: 14th International Congress on Antiphospholipid Antibodies Technical Task Force Report on Antiphospholipid Syndrome Clinical Features.

    Science.gov (United States)

    Abreu, Mirhelen M; Danowski, Adriana; Wahl, Denis G; Amigo, Mary-Carmen; Tektonidou, Maria; Pacheco, Marcelo S; Fleming, Norma; Domingues, Vinicius; Sciascia, Savino; Lyra, Julia O; Petri, Michelle; Khamashta, Munther; Levy, Roger A

    2015-05-01

    The purpose of this task force was to critically analyze nine non-criteria manifestations of APS to support their inclusion as APS classification criteria. The Task Force Members selected the non-criteria clinical manifestations according to their clinical relevance, that is, the patient-important outcome from clinician perspective. They included superficial vein thrombosis, thrombocytopenia, renal microangiopathy, heart valve disease, livedo reticularis, migraine, chorea, seizures and myelitis, which were reviewed by this International Task Force collaboration, in addition to the seronegative APS (SN-APS). GRADE system was used to evaluate the quality of evidence of medical literature of each selected item. This critical appraisal exercise aimed to support the debate regarding the clinical picture of APS. We found that the overall GRADE analysis was very low for migraine and seizures, low for superficial venous thrombosis, thrombocytopenia, chorea, longitudinal myelitis and the so-called seronegative APS and moderate for APS nephropathy, heart valve lesions and livedo reticularis. The next step can be a critical redefinition of an APS gold standard, for instance derived from the APS ACTION registry that will include not only current APS patients but also those with antiphospholipid antibodies not meeting current classification criteria.

  13. Mucocutaneous manifestations of helminth infections: Nematodes.

    Science.gov (United States)

    Lupi, Omar; Downing, Christopher; Lee, Michael; Pino, Livia; Bravo, Francisco; Giglio, Patricia; Sethi, Aisha; Klaus, Sidney; Sangueza, Omar P; Fuller, Claire; Mendoza, Natalia; Ladizinski, Barry; Woc-Colburn, Laila; Tyring, Stephen K

    2015-12-01

    In the 21st century, despite increased globalization through international travel for business, medical volunteerism, pleasure, and immigration/refugees into the United States, there is little published in the dermatology literature regarding the cutaneous manifestations of helminth infections. Approximately 17% of travelers seek medical care because of cutaneous disorders, many related to infectious etiologies. This review will focus on the cutaneous manifestations of helminth infections and is divided into 2 parts: part I focuses on nematode infections, and part II focuses on trematode and cestode infections. This review highlights the clinical manifestations, transmission, diagnosis, and treatment of helminth infections. Nematodes are roundworms that cause diseases with cutaneous manifestations, such as cutaneous larval migrans, onchocerciasis, filariasis, gnathostomiasis, loiasis, dracunculiasis, strongyloidiasis, ascariasis, streptocerciasis, dirofilariasis, and trichinosis. Tremadotes, also known as flukes, cause schistosomiasis, paragonimiasis, and fascioliasis. Cestodes (tapeworms) are flat, hermaphroditic parasites that cause diseases such as sparganosis, cysticercosis, and echinococcus.

  14. Serum Vaspin Levels Are Associated with the Development of Clinically Manifest Arthritis in Autoantibody-Positive Individuals.

    Directory of Open Access Journals (Sweden)

    Karen I Maijer

    Full Text Available We have previously shown that overweight may increase the risk of developing rheumatoid arthritis (RA in autoantibody positive individuals. Adipose tissue could contribute to the development of RA by production of various bioactive peptides. Therefore, we examined levels of adipokines in serum and synovial tissue of subjects at risk of RA.Fifty-one individuals positive for immunoglobulin M rheumatoid factor (IgM-RF and/or anti-citrullinated protein antibodies (ACPA, without arthritis, were included in this prospective study. Levels of adiponectin, vaspin, resistin, leptin, chemerin and omentin were determined in baseline fasting serum samples (n = 27. Synovial tissue was obtained by arthroscopy at baseline and we examined the expression of adiponectin, resistin and visfatin by immunohistochemistry.The development of clinically manifest arthritis after follow-up was associated with baseline serum vaspin levels (HR1.5 (95% CI 1.1 to 2.2; p = 0.020, also after adjustment for overweight (HR1.7 (95% CI 1.1 to 2.5; p = 0.016. This association was not seen for other adipokines. Various serum adipokine levels correlated with BMI (adiponectin r = -0.538, leptin r = 0.664; chemerin r = 0.529 and systemic markers of inflammation such as CRP levels at baseline (adiponectin r = -0.449, omentin r = -0.557, leptin r = 0.635, chemerin r = 0.619, resistin r = 0.520 and ESR (leptin r = 0.512, chemerin r = 0.708, p-value<0.05. Synovial expression of adiponectin, resistin and visfatin was not associated with development of clinically manifest arthritis.In this exploratory study, serum adipokines were associated with an increased inflammatory state in autoantibody-positive individuals at risk of developing RA. Furthermore, serum vaspin levels may assist in predicting the development of arthritis in these individuals.

  15. Hypofibrinolytic State in Subjects with Type 2 Diabetes Mellitus Aggravated by the Metabolic Syndrome before Clinical Manifestations of Atherothrombotic Disease

    Science.gov (United States)

    Aburto-Mejía, Elsa; Santiago-Germán, David; Martínez-Marino, Manuel; María Eugenia Galván-Plata; Almeida-Gutiérrez, Eduardo; Hernández-Juárez, Jesús; Alvarado-Moreno, Antonio; Leaños-Miranda, Alfredo

    2017-01-01

    Background. Metabolic and genetic factors induce plasminogen activator inhibitor type-1 (PAI-1) overexpression; higher PAI-1 levels decrease fibrinolysis and promote atherothrombosis. Aim. To assess PAI-1 antigen levels among subjects with type 2 diabetes mellitus (T2DM) plus Metabolic Syndrome (MetS) before clinical manifestations of atherothrombosis and the contribution of metabolic factors and 4G/5G polymorphism of PAI-1 gene on the variability of PAI-1. Methods. We conducted an observational, cross-sectional assay in a hospital in Mexico City from May 2010 to September 2011. MetS was defined by the International Diabetes Federation criteria. PAI-1 levels and 4G/5G polymorphism were determined by ELISA and PCR-RFLP analysis. Results. We enrolled 215 subjects with T2DM plus MetS and 307 controls. Subjects with T2DM plus MetS had higher PAI-1 levels than the reference group (58.4 ± 21 versus 49.9 ± 16 ng/mL, p = 0.026). A model with components of MetS explained only 12% of variability on PAI-1 levels (R2 = 0.12; p = 0.001), with β = 0.18 (p = 0.03) for hypertension, β = −0.16 (p = 0.05) for NL HDL-c, and β = 0.15 (p = 0.05) for NL triglycerides. Conclusion. Subjects with T2DM plus MetS have elevated PAI-1 levels before clinical manifestations of atherothrombotic disease. Metabolic factors have a more important contribution than 4G/5G polymorphism on PAI-1 plasma variability. PMID:28271069

  16. Hypofibrinolytic State in Subjects with Type 2 Diabetes Mellitus Aggravated by the Metabolic Syndrome before Clinical Manifestations of Atherothrombotic Disease

    Directory of Open Access Journals (Sweden)

    Elsa Aburto-Mejía

    2017-01-01

    Full Text Available Background. Metabolic and genetic factors induce plasminogen activator inhibitor type-1 (PAI-1 overexpression; higher PAI-1 levels decrease fibrinolysis and promote atherothrombosis. Aim. To assess PAI-1 antigen levels among subjects with type 2 diabetes mellitus (T2DM plus Metabolic Syndrome (MetS before clinical manifestations of atherothrombosis and the contribution of metabolic factors and 4G/5G polymorphism of PAI-1 gene on the variability of PAI-1. Methods. We conducted an observational, cross-sectional assay in a hospital in Mexico City from May 2010 to September 2011. MetS was defined by the International Diabetes Federation criteria. PAI-1 levels and 4G/5G polymorphism were determined by ELISA and PCR-RFLP analysis. Results. We enrolled 215 subjects with T2DM plus MetS and 307 controls. Subjects with T2DM plus MetS had higher PAI-1 levels than the reference group (58.4 ± 21 versus 49.9 ± 16 ng/mL, p=0.026. A model with components of MetS explained only 12% of variability on PAI-1 levels (R2 = 0.12; p=0.001, with β=0.18 (p=0.03 for hypertension, β=-0.16 (p=0.05 for NL HDL-c, and β=0.15 (p=0.05 for NL triglycerides. Conclusion. Subjects with T2DM plus MetS have elevated PAI-1 levels before clinical manifestations of atherothrombotic disease. Metabolic factors have a more important contribution than 4G/5G polymorphism on PAI-1 plasma variability.

  17. Nephrotic syndrome as a clinical manifestation of graft-versus-host disease (GVHD) in a marrow transplant recipient after cyclosporine withdrawal.

    Science.gov (United States)

    Oliveira, J S; Bahia, D; Franco, M; Balda, C; Stella, S; Kerbauy, J

    1999-01-01

    GVHD is one of the most frequent complications of BMT and recently nephrotic syndrome (NS) has been described as a manifestation of chronic GVHD. Here, we present an AA patient who developed NS 1 year after BMT when cyclosporine was stopped. Renal biopsy showed focal sclerosis associated with membranous deposits. He also had other clinical manifestations of chronic GVHD: sicca-like syndrome and colestasis. After 15 days of CsA therapy, he experienced a remarkable improvement in the NS and GVHD as a whole. We comment on immunological mechanisms that could be involved in the pathogenesis of this manifestation.

  18. An analysis of the demographic profile, clinical manifestations, investigations and outcome of paediatric myelodysplastic syndrome: A single centre, cross-sectional study

    Directory of Open Access Journals (Sweden)

    Appaji Lingegowda

    2015-09-01

    Full Text Available Purpose: Pediatric myelodysplastic syndrome (MDS is a relatively rare entity, with distinct clinical features and more aggressive course than its adult counterpart. The aim of this study was to analyze the incidence of pediatric myelodysplastic syndrome at a tertiary cancer care center in southern India along with clinical manifestations, investigations and outcome.Methods: On retrospective analysis of 1094 cases of pediatric hematological malignancies over a five-year period from September 2009 to August 2014, a total of seven cases of pediatric myelodysplastic syndrome were identified. Presenting complaints, physical examination, investigations including haemogram, biochemistry, bone marrow examination and cytogenetics were reviewed. The diagnosis of MDS was made if there was dysplasia in at least 10% of cells in two or more cell lineages. All patients were risk stratified using the revised IPSS. Results: Out of 1094 cases of pediatric hematological malignancies presenting at our institute within the study period, there were only seven cases of pediatric MDS with an incidence of 0.65%. There were no genetic predispositions nor any cases of therapy related MDS. The most common presentation was with fever and all patients had significant splenomegaly. All patients had anemia (Median-6.2 gm / dL with elevated WBC counts (Median-30,900 / uL and thrombocytopenia (Median-50,000 / uL. The marrow cytogenetics was normal in five patients. Most patients fell into the high and very high-risk category of the revised IPSS, with only two patients of low risk. All seven patients were given only supportive care but one progressed to AML for which he was treated with remission induction. Only two patients were alive at the time of analysis and median survival was 9 months. Conclusion: Pediatric MDS is a rare disease with a short clinical history, aggressive course and generally poor outcomes as compared to the adult variant. A hematopoietic stem cell

  19. Imaging manifestations and clinical application of subacromial impingement syndrome%肩峰下撞击综合征的影像表现与临床应用

    Institute of Scientific and Technical Information of China (English)

    李志磊; 李黎; 全勇

    2012-01-01

    目的 明确肩峰下撞击综合征的诊治方法及影像学检查的实际临床应用.方法 对27例肩峰下撞击综合征患者的临床和影像学资料进行回顾性分析.结果 肩峰下撞击邻近骨质增生硬化明显,钩型肩峰8例,冈上肌腱撕裂10例;保守治疗18例,手术9例;Neer评分优5例,满意17例.结论 肩峰下撞击综合征在临床诊断的基础上结合实际有效的影像学检查能够进行有效的针对性治疗.%Objective To clear the diagnose and treatment of subacromial impingement syndrome and the actual clinical application of imaging examination.Methods Retrospectivly analyzed the clinical manifestation and imaging data of 27 patients with subacromial impingement syndrome.Results Near the site subacromial impingement bone sclerosis obvious,hook acromion in 8 cases,supraspinatus tendon rupture in 10 cases.Eighteen cases with conservative treatment,9 cases with operation.Neer score,5 cases were excellent,17 cases were satisfactory.Conclusions The subacromial impingement syndrome based on clinical diagnosis,the actual effective imaging examination,we can carry on the effective targeted therapy.

  20. DIFFERENTIAL DIAGNOSIS OF ORGANIC ACIDEMIA: CLINICAL AND NEUROIMAGING FINDINGS

    Directory of Open Access Journals (Sweden)

    Mahmoud Reza ASHRAFI

    2012-03-01

    Full Text Available Clinical differential DiagnosisThe organic acidemias are important in the differential diagnosis of metabolic and neurologic derangement in the neonate and of new-onset neurologic signs in the older child.A-Organic aciduriaSeveral disorders, not classified as primary disorders of organic acid metabolism, have a characteristic urinary organic acid profile that suggests the appropriate diagnosis.• Mevalonicaciduria, a disorder of cholesterol biosynthesis, shows mevalonic acid in the urine.• Glutaricacidemia type II, a disorder of fatty acid oxidation, has multiple organic acids in abnormal concentration in urine. These organic acids include ethylmalonic acid, glutaric acid, dicarboxylic acids, and glycine conjugates of medium chain dicarboxylic acids.• The fatty acylCoA-glycine conjugates that signal incomplete fatty acid oxidation and serves as signals to the diagnosis of MCAD defeciency and other disorders of fatty acid oxidation and transport.• Biotinidase deficiency, a disorder of biotin recycling, results in the urinary excretion of several unusual organic acids, including 3-hydroxy-isovaleric, 3-hydroxypropionic, 3-hydroxybutyric acids, and acetoacetate. Propionyl glycine may also be seen.• Mitochondrial diseases with disordered oxidative phosphorylation often demonstrate the presence of abnormal organic acids in the urine.B-AcidosisNon-genetic conditions, such as shock, sepsis, DKA, liver and kidney failure, thiamine deficiency, RTA, some drug intoxication cause acidosis- genetic conditions are include: inherited metabolic disorders of lactate and pyruvate metabolism and oxidative phosphorylation, disorders of the Krebs cycle such as fumarase deficiency.C-HyperammonemiaDisorders of the urea cycle and the hyperammonemia-hypoglycemia syndrome.Neuroimaging• A variety of MRI abnormalities have been described in the organic academia, including distinctive basal ganglia lesions in glutaricacidemia type I (GA I, white matter changes in

  1. Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years.

    Science.gov (United States)

    Khan, Naheed L; Horta, Wagner; Eunson, Louise; Graham, Elizabeth; Johnson, Janel O; Chang, Shannon; Davis, Mary; Singleton, Andrew; Wood, Nicholas W; Lees, Andrew J

    2005-04-01

    We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow-up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent.

  2. Blastocystis and urticaria: Examination of subtypes and morphotypes in an unusual clinical manifestation.

    Science.gov (United States)

    Casero, Rodolfo Daniel; Mongi, Florencia; Sánchez, Angie; Ramírez, Juan David

    2015-08-01

    Blastocystis is a human common enteric protist that may colonize a large variety of non-human hosts linked to symptoms and diseases such as abdominal pain, constipation, diarrhea, urticaria, flatulence and irritable bowel syndrome (IBS). Blastocystis exhibits remarkable genetic diversity and multiple subtypes (STs) within the genus with no absolute associations with clinical symptomatology. Here we analyzed fecal samples from Argentinean patients (n=270) belonging to symptomatic (urticaria and non-specific gastrointestinal symptoms, n=39) and asymptomatic control (n=28). Those patients infected with Blastocystis (n=67) were submitted for morphological analysis, DNA extraction, 18S PCR, sequencing and STs identification according to DNA barcoding. Blastocystis vacuolar forms were the predominant morphotype (75%), ameboid-like forms were evidenced in 1.5% of samples. Blastocystis ST3 was detected in 71.6% (n=48), of which 71.4%, (n=35) and 28.6% (n=14) belonged to symptomatic and asymptomatic respectively. Other subtypes identified were ST1 (14.9%), ST6 (7.5%) and ST2 (5.9%). Blastocystis 18S barcoding evidenced in non-urticaria symptomatic patients and asymptomatic control group the presence of allele 134 (ST3) (p<0.0001), while allele 34 (ST3) was detected in 85.7% (18/21) of symptomatic uricaria as compared with control group (1/21) (p<0.0001). The presence of a particular allele (a34) significantly associated with urticaria patients was detected and the clinical implications of these findings are herein discussed.

  3. Extrahepatic manifestations of HCV.

    Science.gov (United States)

    Grignoli, R; Goossens, N; Negro, F

    2015-03-01

    The hepatic consequences of an infection with the hepatitis C virus (HCV) are well recognised, but extrahepatic manifestations of HCV may be just as severe. Here we have reviewed various extrahepatic manifestations of HCV such as mixed cryoglobulinemia, lymphoma, metabolic features and neurologic consequences and we discuss pathogenesis and management of these clinical problems. We concluded with important aspects of therapy with novel anti-HCV agents and its effects on extrahepatic manifestations.

  4. Diagnosis of brain death: confirmatory tests after clinical test

    Institute of Scientific and Technical Information of China (English)

    Su Yingying; Yang Qinglin; Liu Gang; Zhang Yan; Ye Hong; Gao Daiquan; Zhang Yunzhou

    2014-01-01

    Background The brain death confirmation tests occupy a different position in each country's diagnostic criteria (or guideline); the choices of tests are also different.China brain death criteria include clinical judgment and confirmation tests.This study aimed to confirm the preferred confirmatory test and complementary confirmatory tests.Methods We did a clinical brain death determination on deep coma patients,and then divided them into brain death group and non-brain death group.According to the Chinese standards for determining brain death,both the groups accepted confirmatory tests including electroencephalograph (EEG),somatosensory evoked potentials (SEP),and transcranial Doppler (TCD).The sensitivity,specificity,false positive rate,and false negative rate were calculated to evaluate the accuracy of the confirmatory tests.Results Among the 131 cases of patients,103 patients met the clinical criteria of brain death.Respiratory arrest provocation test was performed on 44 cases and 32 cases (73%) successfully completed and confirmed that they have no spontaneous breathing.Of the three confirmation tests,EEG had the highest completion rate (98%) and good sensitivity (83%) and specificity (97%); TCD had followed completion rate (54%) and not good sensitivity (73%) and specificity (75%); SEP had the lowest completion rate (49%),good sensitivity (100%),and not good specificity (78%).After the combination of SEP or TCD with EEG,the specificity can increase to 100%.Conclusions The completion rate of respiratory arrest provocation test remains a problem in the clinical diagnosis of brain death.If the test cannot be completed,whether to increase a confirmatory test is debatable.SEP had an ideal sensitivity,and the specificity will reach 100% after combining with TCD or EEG.When a confirmed test was uncertain,we suggest increasing another confirmatory test.

  5. Clinical and Imaging Manifestation of 65 Cases of Tuberculosis Meningitis in Children%65例小儿结核性脑膜炎的临床表现

    Institute of Scientific and Technical Information of China (English)

    陈凤民; 任纯明

    2011-01-01

    Objective To investigate the clinical diagnosis method for pediatric tuberculosis meningitis. Methods Each patient underwent routine cerebrospinal fluid examination, PPD test, chest X - ray, CT or MRI, 11 patients underwent a mycobacterium tuberculosis - specific antigen ( ESAT -6) determination. Results PPD test had positive rate of 47. 9% and ESAT -6 test 81. 8% . While the rates of both the cerebrospinal fluid sugar and chloride reducing were 72. 3% . Rate of chest X ray abnormality were 32. 3% , and rates of head CT, MRI abnormalities were 75.4% and 100%. Conclusion The clinical manifestations of tuberculosis meningitis in children's diversity and the lack of specific screening method caused great difficulties for early diagnosis. Improved understanding of the disease, actively looking for evidence of TB infection, dynamic observation of cerebrospinal fluid and cranial CT, MRI changes, can improve the correct diagnosis of this disease, and is important for improring prognosis.%目的 探讨小儿结核性脑膜炎的临床诊断方法.方法 对每例患者常规做脑脊液检查、PPD试验、X线胸片、头颅CT或MRI,11例患者做了结核分枝杆菌特异性抗原(ESAT -6)测定.结果 PPD试验阳性率47.9%,ESAT -6试验阳性率81.8%,脑脊液糖和氯化物同时降低者72.3%,X线胸片异常率为32.3%,头颅CT、MRI异常率分别为75.4%、100%.结论 小儿结核性脑膜炎临床表现的多样性及缺乏特异性的检查方法,给早期诊断带来很大困难,提高对本病的认识,积极寻找结核感染的证据,动态观察脑脊液及头颅CT、MRI变化,可以提高本病的正确诊断率,对改善预后有重要意义.

  6. Effectiveness of MRI for the diagnosis and clinical significance of empty sella

    Energy Technology Data