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Sample records for clinical feature pathogenesis

  1. Infantile hemangiomas: from pathogenesis to clinical features

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    Rosenblatt A

    2012-06-01

    Full Text Available Adena Rosenblatt,1 Erin F Mathes,2 Kristina W Rosbe31Department of Pediatrics, University of California, San Francisco, 2Division of Pediatric Dermatology, Departments of Dermatology and Pediatrics, University of California, San Francisco, 3Division of Pediatric Otolaryngology, Department of Otolaryngology – Head and Neck Surgery, University of California, San Francisco, CA, USAAbstract: Infantile hemangiomas (IH are benign vascular tumors consisting of a collection of immature cells, including progenitor stem cells and disorganized blood vessels. They are the most common benign tumors in childhood. Recently, there have been significant, exciting advancements in the understanding of the pathogenesis and treatment of infantile hemangiomas, which are discussed in this review. The decision to initiate treatment for IH is based on many factors, including size and location, functional compromise, psychosocial implications, and risks and benefits of the proposed therapy. For most families of children with hemangiomas, education about the natural history of IH and reassurance are often the only "treatment" required. A minority of patients with large, complex lesions or lesions that cause functional compromise require early intervention. These patients and families benefit from a multidisciplinary approach to care in vascular birthmark centers. Ongoing multi-institutional clinical trials will provide further important data on the efficacy and safety of hemangioma treatments.Keywords: progenitor stem cell, glucose transporter 1, PHACES, LUMBAR, infantile hemangioma

  2. Pilonidal sinus disease - Etiological factors, pathogenesis and clinical features

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    Kazim Duman

    2016-12-01

    Full Text Available and lsquo;Pilonidal sinus' disease, which is most commonly seen in reproductive populations, such as young adults - mostly in males who are in their twenties - is actually a controversial disease in that there is no consensus on its many facets. It is sometimes seen as an infected abscess draining from an opening or a lesion extending to the perineum. It may also present as a draining fistula opening to skin. In terms of etiological factors, various theories (main theories being congenital and acquired have been established since it was first described, no universal understanding achieved. A long and significant post-operative care period with different lengths of recovery depending on the type of operation are quite prevalent with regards to recurrence and complication status. In order to prevent recurrence and improve the quality of life, etiological and predisposing factors as well as clinical features of sacrococcygeal pilonidal disease should be well known, a detailed differential diagnosis should be made, and a suitable and timely intervention should be performed. It was aimed here to explain the etiological factors, pathogenesis and clinical features of the disease that may present with various clinical symptoms. [Arch Clin Exp Surg 2016; 5(4.000: 228-232

  3. [Vascular malformations (I). Concept, classification, pathogenesis and clinical features].

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    Redondo, P

    2007-04-01

    Vascular malformations are anomalies always present at birth that, contrary to hemangiomas, never regress and may grow during lifetime. Clinical presentation of vascular malformations is extremely variable and ranges from asymptomatic spots of mere aesthetic concern to lesions with high blood flow or located in critical sites that may be life-threatening. Given the low incidence of these disorders it is difficult to establish therapeutic guidelines. In addition to a correct classification of vascular anomalies, it is necessary a multidisciplinary approach for the follow-up and management of these patients. The first part of this review focuses on the different classifications of vascular anomalies, maintaining as reference the one proposed by the International Society for the Study of Vascular Anomalies (ISSVA). Additionally, clinical features of the different subtypes of vascular anomalies as well as their association in certain syndromes are reviewed.

  4. Ocular Tuberculosis I: Epidemiology, Pathogenesis and Clinical Features

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    Sumru Önal

    2011-06-01

    Full Text Available The World Health Organization has declared tuberculosis (TB to be a global emergency, as it remains the most common single cause of morbidity and mortality worldwide. TB is caused by the acid-fast bacillus Mycobacterium tuberculosis and primarily affects the lungs [pulmonary TB (PTB]. It can also affect any other part of the body [extrapulmonary TB (EPTB]. It is estimated that 1.4% of patients with PTB will eventually develop ocular disease; however, in the majority of cases of ocular TB, PTB may not be documented. Ocular TB infection is usually a result of hematogenous spread during PTB or EPTB. Symptomatic disease most commonly develops after reactivation of dormant foci in the ocular tissue rather than being the manifestation of the initial infection. Immune-mediated ocular TB can occur due to hypersensitivity to M. tuberculosis antigens from a distant focus (such as lungs, despite the absence of the bacterium in the eye. The most common clinical presentation of intraocular inflammation (uveitis due to TB appears to be posterior uveitis, followed by anterior uveitis, panuveitis and intermediate uveitis. The absence of uniform diagnostic criteria for intraocular TB has led to confusion regarding its diagnosis and management. Recent studies on the clinical importance of purified protein derivative (PPD skin test, interferon-gamma release assays, chest computed tomography and polymerase chain reaction have provided a new approach to diagnosing ocular TB. This review series focuses on the clinical features, diagnostic techniques, diagnostic criteria, and treatment modalities in the light of recent literature. (Turk J Ophthalmol 2011; 41: 171-81

  5. Pathogenesis, clinical features and pathology of chronic arsenicosis

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    Sengupta Sujit

    2008-01-01

    Full Text Available Arsenicosis is a multisystem disorder, with virtually no system spared from its vicious claw; though its predominant manifestations are linked to cutaneous involvement. Cutaneous effects take the form of pigmentary changes, hyperkeratosis, and skin cancers (Bowen′s disease, squamous cell carcinoma, and basal cell epithelioma. Peripheral vascular disease (blackfoot disease, hypertension, ischemic heart disease, noncirrhotic portal hypertension, hepatomegaly, peripheral neuropathy, respiratory and renal involvement, bad obstetrical outcome, hematological disturbances, and diabetes mellitus are among the other clinical features linked to arsenic toxicity. The effects are mediated principally by the trivalent form of arsenic (arsenite, which by its ability to bind with sulfhydryl groups present in various essential compounds leads to inactivation and derangement of body function. Though the toxicities are mostly linked to the trivalent state, arsenic is consumed mainly in its pentavalent form (arsenate, and reduction of arsenate to arsenite is mediated through glutathione. Body attempts to detoxify the agent via repeated oxidative methylation and reduction reaction, leading to the generation of methylated metabolites, which are excreted in the urine. Understandably the detoxification/bio-inactivation process is not a complete defense against the vicious metalloid, and it can cause chromosomal aberration, impairment of DNA repair process, alteration in the activity of tumor suppressor gene, etc., leading to genotoxicity and carcinogenicity. Arsenic causes apoptosis via free radical generation, and the cutaneous toxicity is linked to its effect on various cytokines (e.g., IL-8, TGF-β, TNF-α, GM-CSF, growth factors, and transcription factors. Increased expression of cytokeratins, keratin-16 (marker for hyperproliferation and keratin-8 and -18 (marker for less differentiated epithelial cells, can be related to the histopathological findings of

  6. Nail psoriasis: clinical features, pathogenesis, differential diagnoses, and management

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    Haneke E

    2017-10-01

    Full Text Available Eckart Haneke1–4 1Department of Dermatology, Inselspital, University of Bern, Bern, Switzerland; 2Dermatology Practice Dermaticum, Freiburg, Germany; 3Centro de Dermatología Epidermis, Instituto CUF, Porto, Portugal; 4Department of Dermatology, University Hospital, Gent, Belgium Abstract: Psoriasis is the skin disease that most frequently affects the nails. Depending on the very nail structure involved, different clinical nail alterations can be observed. Irritation of the apical matrix results in psoriatic pits, mid-matrix involvement may cause leukonychia, whole matrix affection may lead to red lunulae or severe nail dystrophy, nail bed involvement may cause salmon spots, subungual hyperkeratosis, and splinter hemorrhages, and psoriasis of the distal nail bed and hyponychium causes onycholysis whereas that of the proximal nail fold causes psoriatic paronychia. The more extensive the involvement, the more severe is the nail destruction. Pustular psoriasis may be seen as yellow spots under the nail or, in case of acrodermatitis continua suppurativa, as an insidious progressive loss of the nail organ. Nail psoriasis has a severe impact on quality of life and may interfere with professional and other activities. Management includes patient counseling, avoidance of stress and strain to the nail apparatus, and different types of treatment. Topical therapy may be tried but is rarely sufficiently efficient. Perilesional injections with corticosteroids and methotrexate are often beneficial but may be painful and cannot be applied to many nails. All systemic treatments clearing widespread skin lesions usually also clear the nail lesions. Recently, biologicals were introduced into nail psoriasis treatment and found to be very effective. However, their use is restricted to severe cases due to high cost and potential systemic adverse effects. Keywords: nail psoriasis, etiology, pathology, quality of life, impact, treatment

  7. Basal Cell Carcinoma: Pathogenesis, Epidemiology, Clinical Features, Diagnosis, Histopathology, and Management

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    Marzuka, Alexander G.; Book, Samuel E.

    2015-01-01

    Basal cell carcinoma (BCC) is the most common malignancy. Exposure to sunlight is the most important risk factor. Most, if not all, cases of BCC demonstrate overactive Hedgehog signaling. A variety of treatment modalities exist and are selected based on recurrence risk, importance of tissue preservation, patient preference, and extent of disease. The pathogenesis, epidemiology, clinical features, diagnosis, histopathology, and management of BCC will be discussed in this review. PMID:26029015

  8. Erythema multiforme: a review of epidemiology, pathogenesis, clinical features, and treatment.

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    Samim, Firoozeh; Auluck, Ajit; Zed, Christopher; Williams, P Michele

    2013-10-01

    Erythema multiforme (EM) is an acute, immune-mediated disorder affecting the skin and/or mucous membranes, including the oral cavity. Target or iris lesions distributed symmetrically on the extremities and trunk characterize the condition. Infections are the most common cause of EM and the most frequently implicated infectious agent causing clinical disease is the herpes simplex virus. The diagnosis of EM is typically based on the patient's history and clinical findings. Management involves controlling the underlying infection or causative agent, symptom control, and adequate hydration. The epidemiology, pathogenesis, clinical features, diagnosis, and treatment of EM are reviewed in this article. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. Paraneoplastic Pemphigus: Insight into the Autoimmune Pathogenesis, Clinical Features and Therapy

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    Giovanni Paolino

    2017-11-01

    Full Text Available Paraneoplastic pemphigus is a rare autoimmune skin disease that is always associated with a neoplasm. Usually, oral, skin, and mucosal lesions are the earliest manifestations shown by paraneoplastic pemphigus patients. The pathogenesis of paraneoplastic pemphigus is not yet completely understood, although some immunological aspects have been recently clarified. Because of its rarity, several diagnostic criteria have been proposed. Besides, several diagnostic procedures have been used for the diagnosis, including indirect immunofluorescence, direct immunofluorescence, and ELISA. We reviewed the most recent literature, searching on PubMed “paraneoplastic pemphigus”. We included also papers in French, German, and Spanish. We found 613 papers for “paraneoplastic pemphigus”. Among them, 169 were review papers. Because of its varying clinical features, paraneoplastic pemphigus still represents a challenge for clinicians. Furthermore, diagnosis and management of paraneoplastic pemphigus requires close collaboration between physicians, including dermatologist, oncologist, and otorhinolaryngologist.

  10. Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions

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    Ashley, Claire N.; Hoang, Kelly D.; Lynch, David R.; Perlman, Susan L.; Maria, Bernard L.

    2013-01-01

    Childhood ataxia is characterized by impaired balance and coordination primarily due to cerebellar dysfunction. Friedreich ataxia, a form of childhood ataxia, is the most common multisystem autosomal recessive disease. Most of these patients are homozygous for the GAA repeat expansion located on the first intron of the frataxin gene on chromosome 9. Mutations in the frataxin gene impair mitochondrial function, increase reactive oxygen species, and trigger redistribution of iron in the mitochondria and cytosol. Targeted therapies for Friedreich ataxia are undergoing testing. In addition, a centralized database, patient registry, and natural history study have been launched to support clinical trials in Friedreich ataxia. The 2011 Neurobiology of Disease in Children symposium, held in conjunction with the 40th annual Child Neurology Society meeting, aimed to (1) describe clinical features surrounding Friedreich ataxia, including cardiomyopathy and genetics; (2) discuss recent advances in the understanding of the pathogenesis of Friedreich ataxia and developments of clinical trials; (3) review new investigations of characteristic symptoms; (4) establish clinical and biochemical overlaps in neurodegenerative diseases and possible directions for future basic, translational, and clinical studies. PMID:22859693

  11. The pathogenesis of the clinical features of oral-facial-digital syndrome type I

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    Wael M. AlKattan

    2015-11-01

    Full Text Available Oral-facial-digital syndrome type I (OFDI is an X-linked syndrome, which has several craniofacial and limb features; and hence, patients frequently present to craniofacial and plastic surgeons. Oral-facial-digital syndrome type I is caused by mutations in the CXORF5 gene. The gene product is one of the basal body proteins of a slim microtubule-based organelle called the “primary cilium”. Most of the clinical features of OFDI patients are related to dysfunctions of the primary cilium leading to abnormal Hedgehog signal transduction, depressed planar cell polarity pathway, and errors in cell cycle control.

  12. Multiple, sclerosis: clinical feature, pathogenesis and current therapeutical approaches; Encephalomyelitis disseminata: Klinik, Pathogenese und aktuelle Therapiekonzepte

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    Merkelbach, S.; Koelmel, C.; Schimrigk, K. [Universitaet des Saarlandes, Homburg/Saar (Germany). Neurologische Klinik

    2000-11-01

    Multiple sclerosis (MS) is considered as a T-cell mediated autoimmune disease. Caused by central nervous system demyelination and axonal damage varying clinical signs do occur either with relapsing-remitting or with chronic progressive course. Based on pathogenetic considerations immunomodulative and immunosuppressive therapeutical approaches are used to limit the disease progression. Clinical symptoms, diagnostic criteria, pathogenetical considerations, and consecutive therapeutical interventions are summarized. (orig.) [German] Die Encephalomyelitis disseminata oder Multiple Sklerose (ED oder MS) gilt als T-Zell-vermittelte Autoimmunerkrankung. Schubfoermig oder chronisch progredient kommt es im Zentralnervensystem infolge einer Demyelinisierung der weissen Substanz und axonaler Schaedigungen zu einer Vielzahl neurologischer Symptome. Basierend auf pathogenetischen Erkenntnissen werden derzeit immunmodulative und immunsuppressive Therapien eingesetzt, die den Krankheitsverlauf zumindest bremsen. Klinische Symptome, diagnostische Kriterien, pathogenetische Ueberlegungen und sich daraus ableitende Therapiekonzepte werden zusammenfassend dargestellt. (orig.)

  13. Lyme arthritis: pathogenesis, clinical presentation, and management.

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    Puius, Yoram A; Kalish, Robert A

    2008-06-01

    Arthritis is one of the most prominent features of Lyme disease, the tick-borne illness caused by Borrelia burgdorferi. Although the pathogenesis of Lyme arthritis is complex and still under study, the clinical presentation and natural history have been established by long-term observation of untreated and treated patients. This review addresses the clinical presentation of Lyme arthritis as a mono- or oligoarticular relapsing/remitting arthritis primarily affecting the large joints and describes presentations in which arthralgias rather than arthritis are seen. Strategies for diagnosis and treatment are discussed, and methods are reviewed for addressing treatment-refractory Lyme arthritis and arthralgias that may occur after treatment of Lyme disease (sometimes as a component of what is known as the post-Lyme disease syndrome).

  14. [Hypertensive crisis: pathogenesis, clinic, treatment].

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    Vertkin, A L; Topolianskiĭ, A V; Abdullaeva, A U; Alekseev, M A; Shakhmanaev, Kh A

    2013-01-01

    Contemporary data on mechanisms of development, types, and clinical picture of hypertensive crisis (HC) are presented. Algorithms of rational therapy of uncomplicated and complicated HC are considered. Appropriateness of the use in HC of antihypertensive drugs with multifactorial action is stressed. These drugs include urapidil - an antihypertensive agent with complex mechanism of action. Blocking mainly the postsynaptic 1-adrenoreceptors urapidil attenuates vasoconstrictor effect of catecholamines and decreases total peripheral resistance. Stimulation of 5HT1-receptors of medullary vasculomotor center promotes lowering of elevated vascular tone and prevents development of reflex tachycardia.

  15. [EBOLA HEMORRHAGIC FEVER; ETIOLOGY, EPIDEMIOLOGY, PATHOGENESIS, AND CLINICAL SYMPTOMS].

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    Zhdanov, K W; Zakharenko, S M; Kovalenko, A N; Semenov, A V; Fusin, A Ya

    2015-01-01

    The data on the prevalence of disease caused by Ebola virus, biological features of its pathogen, character of the epidemiological process, pathogenesis and clinical symptoms are presented. The disease is characterized by suppression of protective immunological mechanisms and systemic inflammatory reaction accounting for the lesions of vascular endothelium, hemostatic and immune systems. It eventually leads to polyorgan insufficiency and severe shock. Lethality amounts to 50%.

  16. MDS: Recent progress in molecular pathogenesis and clinical aspects.

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    Harada, Hironori

    2017-01-01

    Myelodysplastic syndromes (MDS) are defined as hematopoietic stem cell disorders caused by various gene abnormalities. Recent analysis using next generation sequencing has provided great progress in identifying relationships between gene mutations and clinical phenotypes of MDS. It is estimated that one or more gene mutations occur in greater than 90% of MDS patients. More than 50 gene mutations affecting RNA splicing machinery, DNA methylation, histone modifications, transcription factors, signal transduction proteins, and components of the cohesion complex participate in the pathogenesis of MDS. The sequential accumulation of additional cooperating mutations drives disease evolution from clonal hematopoiesis of indeterminate potential (CHIP) to symptomatic MDS and from MDS to acute myelogenous leukemia (AML). Mutations in RNA splicing and DNA methylation occur early and are considered founding mutations, whereas others that occur later are regarded as subclonal mutations. RUNX1 mutations are more likely to be subclonal; however, they apparently play a pivotal role in familial MDS. In addition, large alterations of chromosomes are involved in the pathogenesis of MDS. 5q- syndrome, which leads to haploinsufficiency of the located genes, has consistent clinical features. Understanding gene abnormalities of MDS patients can provide clinical information, including diagnosis, prognostic score, and prediction of response to therapy.

  17. Syringomyelia as a presenting feature of shunt dysfunction: Implications for the pathogenesis of syringomyelia

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    Natarajan Muthukumar

    2012-01-01

    Full Text Available The pathogenesis of syringomyelia continues to be an enigma. The patency of the central canal and its role in the pathogenesis of communicating syringomyelia continues to elicit controversy. The case reported here provides an opportunity to retest some of the hypotheses of syringomyelia. A 33 year old female presented with sensory disturbances over the left upper extremity and trunk and was diagnosed to have panventriculomegaly with communicating syringomyelia. She was initially treated with ventriculoperitoneal shunting. As there was no change in her neurological status following shunt, this was followed by foramen magnum decompression with excision of an arachnoid veil covering the fourth ventricular outlet. She had clinical and radiological improvement after foramen magnum decompression. Five months later she had reappearance of the symptoms of syringomyelia and was found to have shunt dysfunction and holocord syrinx. She improved following shunt revision. This case is being reported to highlight the following points: 1. In patients with communicating syringomyelia and hydrocephalus, shunt dysfunction can present with symptoms of syringomyelia without the classical clinical features of shunt dysfunction, 2. In patients with communicating syringomyelia, the central canal of the spinal cord acts as an "exhaust valve" for the ventricular system, and, 3. studies about the patency of the central canal are reviewed in the context of this case and the role of the central canal in the pathogenesis of communicating syringomyelia is reviewed.

  18. [Celiac disease : Pathogenesis, clinics, epidemiology, diagnostics, therapy].

    Science.gov (United States)

    Schuppan, Detlef

    2016-07-01

    Celiac disease is induced by the consumption of gluten containing cereals (wheat, spelt, barley, rye). With a prevalence of ~ 1 %, it is the most common non-infectious chronic inflammatory intestinal disease worldwide. It manifests in all age groups, either classically with abdominal pain, diarrhoea and growth failure or weight loss, more commonly with indirect consequences of malabsorption, such as anaemia and osteoporosis, or with associated autoimmune diseases like type 1 diabetes, autoimmune thyroiditis or dermatitis herpetiformis. The pathogenesis of celiac disease is well explored. Gluten, the cereal storage protein, is not completely digested and reaches the intestinal mucosa where it activates inflammatory T cells, which cause atrophy of the resorptive villi. This T‑cell activation requires a genetic predisposition (the molecules HLA-DQ2 or -DQ8 on antigen-presenting immune cells). Moreover, the enzyme tissue transglutaminase (TG2) which is released in the mucosa increases the immunogenicity of the gluten peptides by a deamidation reaction. The test for serum antibodies to the autoantigen TG2 is one of the best diagnostic markers in medicine, which in combination with endoscopically obtained biopsies, secures the diagnosis of celiac disease. Despite these tools celiac disease is severely underdiagnosed, with 80-90 % of those affected being undetected. The untreated condition can lead to grave complications. These include the consequences of malabsorption, cancers (especially intestinal T‑cell lymphoma), and likely also the promotion of autoimmune diseases. The therapy of celiac disease, a strict gluten-free diet, is difficult to maintain and not always effective. Alternative, supporting pharmacological therapies are urgently needed and are currently in development.

  19. Recent advances in dengue pathogenesis and clinical management.

    Science.gov (United States)

    Simmons, Cameron P; McPherson, Kirsty; Van Vinh Chau, Nguyen; Hoai Tam, D T; Young, Paul; Mackenzie, Jason; Wills, Bridget

    2015-12-10

    This review describes and commentates on recent advances in the understanding of dengue pathogenesis and immunity, plus clinical research on vaccines and therapeutics. We expand specifically on the role of the dermis in dengue virus infection, the contribution of cellular and humoral immune responses to pathogenesis and immunity, NS1 and mechanisms of virus immune evasion. Additionally we review a series of therapeutic intervention trials for dengue, as well as recent clinical research aimed at improving clinical diagnosis, risk prediction and disease classification. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  20. [Dengue fever: clinical features].

    Science.gov (United States)

    Dellamonica, P

    2009-10-01

    The vector for dengue fever and chikungunya, Aedes albopictus, was recently identified in Southeastern France, although the usual vector for dengue fever is Aedes aegypti, raising the possibility of cases occurring among the local population via viraemic individuals returning from endemic areas. Dengue fever is usually transmitted by Aedes aegypti. It is due to an arbovirus-flavivirus of which four different serotypes are known: Den 1 to 4. Each serotype is responsible for specific prolonged immunity but no cross-reactivity exists between serotypes. Clinically, the onset is abrupt with frontal headache, retro-orbital pain, myalgia, joint pain, prostration and, in many cases, a macular rash usually sparing the face and extremities. Haemorrhagic signs may occur, such as petechiae, purpura, epistaxis or bleeding gingivae. Two severe forms of dengue fever, particularly among children below 3 years of age, include dengue haemorrhagic fever (DHF) and DHF with shock (dengue shock syndrome). If a case is suspected in metropolitan France, the diagnosis should be systematically confirmed by positive specific IgM, RT-PCR or viral isolation. Treatment of dengue fever, whether in its uncomplicated form or with hemorrhagic manifestations or shock, remains symptomatic. There is no specific anti-viral treatment. A case should be notified to allow French health authorities to take the appropriate measures for vector control.

  1. Antiphospholipid antibody: laboratory, pathogenesis and clinical manifestations

    OpenAIRE

    T. Ziglioli; S. Cartella; Casu, C.; Tincani, A; Cattaneo, R

    2011-01-01

    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 ass...

  2. Candidiasis: pathogenesis, clinical characteristics, and treatment.

    Science.gov (United States)

    Appleton, S S

    2000-12-01

    Candida organisms live on the skin and mucous membranes of up to 75 percent of the population. They can live commensally without causing harm or can change to an aggressive form and invade tissue, causing both acute and chronic disease in the host. Oropharyngeal candidiasis manifests clinically as acute pseudomembranous, acute atrophic, chronic atrophic, chronic hypertrophic/hyperplastic, and angular cheilitis. Systemic infection leading to candidemia can be devastating and cause up to a 60 percent mortality rate in medical or post-surgical intensive care wards. Oral nystatin, clotrimazole, and fluconazole usually provide appropriate therapy; although resistance to medications is increasing, particularly in immunocompromised hosts.

  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. Spinal dural arteriovenous fistulas: Pathogenesis, clinical manifestations, diagnosis, treatment

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    G. Yu. Evzikov

    2015-01-01

    Full Text Available The paper describes spinal dural arteriovenous fistulas (SDAVF, the most common type of spinal cord vascular anomalies. SDAVFs account for 60–80% of the spinal cord vascular anomalies. The causes of SDAVFs, the specific features of their hemodynamics, and their classification remain the subject matter of disputes.SDAVFs form in dura mater tissue, on the dorsal surface of radicular cuffs. The pathogenesis of neurological disorders in SDAVF has determined the name «venous hypertensive myelopathy», a spinal cord injury occurring in their presence. Pain and paresthesias, cacesthesia (more commonly in their distal parts, and motor disorders as flail legs are observed at the onset of SDAVF in typical cases. On average, 12 to 44 months elapse to establish its diagnosis. In addition of motor and sensory disorders, sphincter impairments and sexual dysfunction are detected in the patients at the time of diagnosis. By this time, most patients have already neurological disability.The paper presents the history of studying SDAVF, the existing classifications of arteriovenous malformations and fistulas, the clinical manifestations of venous hypertensive myelopathy in SDAVF, neuroimaging findings, and treatment options.

  5. Large granular lymphocytic leukemia: molecular pathogenesis, clinical manifestations, and treatment.

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    Zhang, Dan; Loughran, Thomas P

    2012-01-01

    Large granular lymphocyte (LGL) leukemia represents a spectrum of rare lymphoproliferative diseases defined by clonal amplification of either CD3(+) cytotoxic T-lymphocytes or CD3(-) natural killer cells. This chapter focuses on the T-cell form of LGL leukemia. Clinical features include neutropenia, anemia, and rheumatoid arthritis. LGL leukemia is thought to arise from chronic antigenic stimulation, with the long-term survival of LGL being promoted by constitutive activation of multiple survival signaling pathways, such as the JAK/STAT3, sphingolipid, and Ras/MEK/ERK pathways. Therefore, these lead to global deregulation of apoptosis and resistance to normal pathways of activation-induced cell death. The majority of LGL leukemia patients eventually need treatment. Treatment of leukemic LGL is based on immunosuppressive therapy, primarily using low doses of methotrexate or cyclophosphamide. However, no standard therapy has been established because of the lack of large, prospective trials. In addition, because some patients are refractory to currently available treatments and none of these therapeutic modalities can cure LGL leukemia, new therapeutic options are needed. Understanding the current state of the pathogenesis of LGL leukemia may provide insights into novel therapeutic options.

  6. The modern features of pathogenesis-induced prevention of preeclampsia

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    Konkov D.G.

    2016-03-01

    Full Text Available Purpose — the assessment of clinical effectiveness of preventive therapy in pregnant women with high risk of preeclampsia. Patients and methods. In the comparative study on the effectiveness of preventive therapy were participated 110 pregnant women with decidual vasculopathy and endothelial dysfunction, which had high risk of preeclampsia. We investigated the clinical efficacy for medications that containing 75 mg of acetylsalicylic acid and L-arginine. Results. The results of the study have shown that use of preventive treatment (L-arginine and acetylsalicylic acid from 12 weeks, among pregnant women with high risk of preeclampsia, led to a significant decrease of perinatal loss, reduction of clinical manifestations of preeclampsia, preterm delivery, malformations and malpresentation of the placenta, cases of asphyxia of the newborns, perinatal CNS lesions and intra-ventricular hemorrhage. Conclusions. Clinical effectiveness of preventive treatment (L-arginine and ASA among pregnant women with high risk of preeclampsia was proven. Furthermore it was recognized clinically effective use of 75 mg of ASA from 12 weeks of pregnancy. No side effects of drugs in the study were noted.

  7. Pathogenesis, clinical manifestations and management of immune checkpoint inhibitors toxicity.

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    Inno, Alessandro; Metro, Giulio; Bironzo, Paolo; Grimaldi, Antonio M; Grego, Elisabetta; Di Nunno, Vincenzo; Picasso, Virginia; Massari, Francesco; Gori, Stefania

    2017-09-18

    Immune checkpoint inhibitors have emerged as an effective treatment for several tumor types and their use in clinical practice is expected to further increase in the immediate future. Although these agents are well tolerated, they are associated with a peculiar spectrum of toxicity, which is immune mediated and may potentially affect every organ. However, immune-related adverse events are mostly reversible if promptly diagnosed and adequately treated. Therefore, it is crucial that medical oncologists know how to diagnose and treat immune-related adverse events. This review focuses on the pathogenesis, clinical manifestations and management of immune-related toxicity of anti-CTLA-4 and anti-PD-1 antibodies.

  8. Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

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    Muchtar, Eli; Blauwet, Lori A; Gertz, Morie A

    2017-09-15

    Restrictive cardiomyopathy (RCM) is characterized by nondilated left or right ventricle with diastolic dysfunction. The restrictive cardiomyopathies are a heterogenous group of myocardial diseases that vary according to pathogenesis, clinical presentation, diagnostic evaluation and criteria, treatment, and prognosis. In this review, an overview of RCMs will be presented followed by a detailed discussion on 3 major causes of RCM, for which tailored interventions are available: cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis. Each of these 3 RCMs is challenging to diagnose, and recognition of each disease entity is frequently delayed. Clinical clues to promote recognition of cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis and imaging techniques used to facilitate diagnosis are discussed. Disease-specific therapies are reviewed. Early recognition remains a key barrier to improving survival in all RCMs. © 2017 American Heart Association, Inc.

  9. Gestational Trophoblastic Disease: Clinical and Imaging Features.

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    Shaaban, Akram M; Rezvani, Maryam; Haroun, Reham R; Kennedy, Anne M; Elsayes, Khaled M; Olpin, Jeffrey D; Salama, Mohamed E; Foster, Bryan R; Menias, Christine O

    2017-01-01

    Gestational trophoblastic disease (GTD) is a spectrum of both benign and malignant gestational tumors, including hydatidiform mole (complete and partial), invasive mole, choriocarcinoma, placental site trophoblastic tumor, and epithelioid trophoblastic tumor. The latter four entities are referred to as gestational trophoblastic neoplasia (GTN). These conditions are aggressive with a propensity to widely metastasize. GTN can result in significant morbidity and mortality if left untreated. Early diagnosis of GTD is essential for prompt and successful management while preserving fertility. Initial diagnosis of GTD is based on a multifactorial approach consisting of clinical features, serial quantitative human chorionic gonadotropin (β-hCG) titers, and imaging findings. Ultrasonography (US) is the modality of choice for initial diagnosis of complete hydatidiform mole and can provide an invaluable means of local surveillance after treatment. The performance of US in diagnosing all molar pregnancies is surprisingly poor, predominantly due to the difficulty in differentiating partial hydatidiform mole from nonmolar abortion and retained products of conception. While GTN after a molar pregnancy is usually diagnosed with serial β-hCG titers, imaging plays an important role in evaluation of local extent of disease and systemic surveillance. Imaging also plays a crucial role in detection and management of complications, such as uterine and pulmonary arteriovenous fistulas. Familiarity with the pathogenesis, classification, imaging features, and treatment of these tumors can aid in radiologic diagnosis and guide appropriate management. (©)RSNA, 2017.

  10. Feature++: Automatic Feature Construction for Clinical Data Analysis.

    Science.gov (United States)

    Sun, Wen; Hao, Bibo; Yu, Yiqin; Li, Jing; Hu, Gang; Xie, Guotong

    2016-01-01

    With the rapid growth of clinical data and knowledge, feature construction for clinical analysis becomes increasingly important and challenging. Given a clinical dataset with up to hundreds or thousands of columns, the traditional manual feature construction process is usually too labour intensive to generate a full spectrum of features with potential values. As a result, advanced large-scale data analysis technologies, such as feature selection for predictive modelling, cannot be fully utilized for clinical data analysis. In this paper, we propose an automatic feature construction framework for clinical data analysis, namely, Feature++. It leverages available public knowledge to understand the semantics of the clinical data, and is able to integrate external data sources to automatically construct new features based on predefined rules and clinical knowledge. We demonstrate the effectiveness of Feature++ in a typical predictive modelling use case with a public clinical dataset, and the results suggest that the proposed approach is able to fulfil typical feature construction tasks with minimal dataset specific configurations, so that more accurate models can be obtained from various clinical datasets in a more efficient way.

  11. Diabetic polyneuropathy: pathogenesis, classification, clinical presentation, and treatment

    Directory of Open Access Journals (Sweden)

    Marina Valentinovna Nesterova

    2013-01-01

    Full Text Available Diabetes mellitus (DM is a global epidemic followed by late complications as diabetic polyneuropathy (DPN and diabetic foot syndrome, leading to appreciable social and economic consequences. Virtually all patients with DM develop DPN in different periods. There is a clear correlation between the presence and magnitude of painful DPN and the duration of DM and the level of glycosylated hemoglobin and the severity of DPN. In spite of the abundance of theories of the development of DPN, its main identified pathogenetic factor is hyperglycemia. The literature gives no universal classification due to the variability of clinical symptoms. The main goals of treatment are to affect the pathogenesis of the disease and to prescribe symptomatic medications. The pathogenetic treatment of DPN includes compensation for carbohydrate metabolism and use of neurometabolic drugs. Pain from DPN may be controlled with antidepressants, anticonvulsants, local anesthetics and opioid analgesics. Although much evidence for the pathogenesis of peripheral nervous system injury has been recently accumulated, a universal standard for the effective therapy of DPN and the follow-up of these patients has not yet been developed.

  12. Neoplasms associated with dentigerous cyst: An insight into pathogenesis and clinicopathologic features

    Directory of Open Access Journals (Sweden)

    Jitendra V Kalburge

    2015-01-01

    Full Text Available Odontogenic cysts may occur in association with odontogenic tumors. Because neoplastic and hamartomatous aberrations can occur at any stage of odontogenesis, combined features of odontogenic tumors with epithelial and mesenchymal components may arise within odontogenic cysts. One of the most common of these is dentigerous cyst (DC which has neoplastic potential and shows associated pathologies such as ameloblastoma, squamous cell carcinoma, mucoepidermoid carcinoma (MEC, adenomatoid odontogenic tumor (AOT, and odontoma. The authors report four cases of DC and associated lesions exhibiting AOT in two cases while one case each of complex odontome and MEC. Emphasis is placed on pathogenesis and clinicopathologic features of these lesions.

  13. Pathogenesis and clinical and economic consequences of postoperative ileus

    Directory of Open Access Journals (Sweden)

    Anthony J Senagore

    2010-07-01

    Full Text Available Anthony J SenagoreDivision of Colon and Rectal Surgery, University of Southern California Keck School of Medicine, Los Angeles, CA, USAAbstract: Postoperative ileus (POI occurs frequently in patients undergoing major abdominal surgery; and only recently has there been renewed interest in understanding the pathogenesis, etiology, clinical manifestations, and clinical and economic consequences related to POI. This interest has been spurred by the potential access to novel pharmaceutical options for the management of POI. POI has a complex and multimodal pathophysiology including neurogenic, inflammatory, hormonal, and pharmacologic components. The clinical manifestations are clinically obvious and include abdominal distention, pain, nausea, vomiting, and inability to pass stools or tolerate a solid diet. Prolonged ileus has been defined as persistence of these symptoms for more than 4 days after major abdominal surgery; however the goal should be to reduce the incidence of these symptoms immediately after surgery. Clearly, the magnitude of the surgical stress and usage of opioid analgesia are the predominant causes of POI. The unappreciated sequelae of POI include increased rates in adverse surgical wound healing, reduced ambulation, atelectasis, pneumonia, urinary infections, and deep vein thrombosis. The secondary impact of these complications includes increased hospital length of stay, resource use, and healthcare costs. POI is common and the impact is underestimated. The addition of alvimopan as the first in class µ-opioid inhibitor has demonstrated consistent benefit in reducing the incidence and impact of POI with reductions in length of hospital stay. POI is a common, and underappreciated complication of major abdominal surgery, and clinicians should be aware of the clinical care options, including novel pharmaceutical agents, that can successfully reduce the incidence of this postoperative complication.Keywords: alvimopan, postoperative

  14. DIFFERENTIATION SYNDROME IN PROMYELOCYTIC LEUKEMIA : CLINICAL PRESENTATION, PATHOGENESIS AND TREATMENT

    Directory of Open Access Journals (Sweden)

    Eduardo Magalhães Rego

    2011-10-01

    Full Text Available Differentiation syndrome (DS represents a life-threatening complication in patients with acute promyelocytic leukemia (APL undergoing induction therapy with all-trans retinoic acid (ATRA or arsenic trioxide (ATO. It affects about 20-25% of all patients and there are no definitive diagnostic criteria. Clinically, DS is characterized by weight gain, fever not attributable to infection, respiratory distress, cardiac involvement, hypotension, and/or acute renal failure. At the histological point of view, there is an extensive interstitial and intra-alveolar pulmonary infiltration by maturing myeloid cells, endothelial cell damage, intra-alveolar edema, inter-alveolar hemorrhage, and fibrinous exsudates. DS pathogenesis is not completely understood, but it is believed that an excessive inflammatory response is the main phenomenon involved, which results in increased production of chemokines and expression of adhesion molecules on APL cells. Due to the high morbidity and mortality associated with DS, its recognition and the prompt initiation of the treatment is of utmost importance. Dexamethasone is considered the mainstay of treatment of DS, and the recommended dose is 10 mg twice daily by intravenous route until resolution of DS. In severe cases (respiratory or acute renal failure it is recommended the discontinuation of ATRA or ATO until recovery.

  15. Pathogenesis and clinical spectrum of primary sclerosing cholangitis

    Science.gov (United States)

    Gidwaney, Neelam G; Pawa, Swati; Das, Kiron M

    2017-01-01

    Primary sclerosing cholangitis (PSC) is a disease of the biliary tract, which has been documented in the literature since 1867. This disease has a strong predilection for affecting men and can be seen in individuals as young as 2 years of age. PSC has a strong associated with inflammatory bowel disease, more commonly with ulcerative colitis, and is also part of the clinical spectrum of IgG4-related diseases. Small-duct PSC, a variant of PSC, also has an association with inflammatory bowel disease. The exact pathogenesis of PSC is not well understood at present, however, is likely a combination of a genetic predisposition with alteration of the molecular structure of the gut. Abnormal serum liver chemistry and presence of certain autoimmune markers are usually the first indicators leading to a diagnosis of PCS, however, these may often be normal in early stages of this disease. The diagnosis is made by cholangiography, which is now considered the gold standard. PSC is a known pre-malignant condition. Such patients have an increased risk of developing cholangiocarcinoma, gallbladder neoplasia, and colon cancer. Many new treatment modalities have emerged in the recent past, including anti-tumor necrosis factor- α and anti-integrins; however, liver transplantation is the only known cure for PSC. Despite past and present research, PSC remains an enigmatic biliary disease with few viable treatment options. PMID:28465630

  16. Hyper-IgE syndromes: recent advances in pathogenesis, diagnostics and clinical care.

    Science.gov (United States)

    Farmand, Susan; Sundin, Mikael

    2015-01-01

    This review provides an overview on recent data regarding pathogenesis, diagnostics and clinical care of hyper-IgE syndromes (HIES). HIES are a group of primary immunodeficiencies with overlapping and distinct features, most frequently caused by deficiency in signal transducer and activator of transcription 3 (STAT3) or dedicator of cytokinesis 8 (DOCK8). Particular progress has been made in deciphering the relevance of STAT3 and DOCK8 for B-cell, T-cell and natural killer-cell immunity as well as in understanding allergic features. Multisystemic features of STAT3-deficient HIES, for example, recurrent fractures and osteopenia, a high degree of vasculopathy and brain white matter hyperintensities, have been thoroughly characterized. IgG replacement may add to the clinical care in STAT3-deficient HIES. In DOCK8-deficient HIES, the high morbidity and deaths in early age seem to justify allogeneic hematopoietic stem cell transplantation. New HIES entities have also been reported. The recent advances expand our understanding of HIES, and improve the diagnostics and clinical care. Yet, more research is required to fully elucidate the specific infection susceptibilities and lung complications, particularly in STAT3-deficient HIES. Future studies also need to focus on clinical care and treatment of nonimmunologic features of HIES, as well as on exploring curative treatments.

  17. CADASIL: pathogenesis, clinical and radiological findings and treatment

    Energy Technology Data Exchange (ETDEWEB)

    Andre, Charles [Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, RJ (Brazil). School of Medicine

    2010-04-15

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic cause of ischemic strokes and a most important model for the study of subcortical vascular dementia. This unrelentlessly progressive disease affects many hundreds of families all over the world but is not well studied in Brazil. This manuscript reviews pathogenetic, clinical, radiological and therapeutic features of CADASIL. The causal mutations are now very well known, but the same can not be said about its intimate pathogenetic mechanisms. The variable clinical presentation should lead physicians to actively pursue the diagnosis in many settings and to more thoroughly investigate family history in first degree relatives. A rational approach to genetic testing is however needed. Treatment of CADASIL is still largely empiric. High-quality therapeutic studies involving medications and cognitive interventions are strongly needed in CADASIL. (author)

  18. 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. Copyright © 2015 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.

  19. [Pathogenesis, clinical picture, and current therapy of rosacea].

    Science.gov (United States)

    Gonser, L I; Gonser, C E; Schaller, M

    2016-01-01

    Rosacea is a common chronic inflammatory disease, especially in patients with fair skin and positive family history. Typical locations are forehead, nose, cheeks and chin; the periorbital region is usually not involved. Clinical features can be very heterogeneous. Besides different subtypes (erythematotelangiectatic rosacea, papulopustular rosacea, phymatous rosacea), which often overlap, various special forms of rosacea exist. Up to 60% of patients with cutaneous rosacea suffer from ocular rosacea. In Germany, brimonidine, metronidazol, azelaic acid, and ivermectin are approved for topical therapy of rosacea; for systemic therapy, doxycycline at a subantimicrobial dose (40 mg/day) is the only approved substance. In case of resistance to this therapy, contraindications or side effects, various alternative therapies are available, however off-label.

  20. Clinical features of hepatitis D.

    Science.gov (United States)

    Farci, Patrizia; Niro, Grazia Anna

    2012-08-01

    Hepatitis D is caused by infection with hepatitis D virus (HDV), a defective RNA virus that requires the obligatory helper function of hepatitis B virus (HBV) for its in vivo transmission. Thus, HDV is acquired only by coinfection with HBV or by superinfection of an HBV carrier. The clinical outcome of hepatitis D differs according to the modality of infection. Whereas coinfection evolves to chronicity in only 2% of the cases, superinfection results in chronic infection in over 90% of the cases. HDV is a highly pathogenic virus that causes acute, often fulminant hepatitis, as well as a rapidly progressive form of chronic viral hepatitis, leading to cirrhosis in 70 to 80% of the cases. The clinical picture of HDV disease is evolving as a consequence of a significant change in the epidemiology of HDV infection, which has led to a significant decline in incidence in Western countries, mainly as a result of universal HBV vaccination programs. However, in the face of a declining prevalence in areas of old endemicity like Europe, immigration poses a threat of HDV resurgence. The interaction of HDV with other hepatitis viruses or human immunodeficiency virus is complex and may lead to different patterns in terms of virologic expression and immunologic responses. Multiple viral infections are associated with rapid progression of liver fibrosis and eventually with the development of hepatocellular carcinoma. Hepatitis D is not a vanishing disease, and continuous efforts should be made to improve its prevention and treatment. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  1. The clinical features of PML.

    Science.gov (United States)

    Berger, Joseph R

    2011-11-01

    The symptoms associated with progressive multifocal leukoencephalopathy (PML) reflect the location of pathologic brain lesions. These symptoms include visual deficits, cognitive impairment, and motor weakness; in patients with acquired immunodeficiency syndrome (AIDS), presenting signs can also include gait disturbance, dysarthria, dysphasia, and ocular palsy. Recently, PML has been observed in patients treated with biologic agents; natalizumab recipients currently represent the second largest group of patients with PML (behind patients with AIDS). Although brain biopsy is the most accurate and reliable method for diagnosing PML, it is rarely used today. Diagnosis is usually based on detection of JC virus in the cerebrospinal fluid by polymerase chain reaction, the clinical presentation, and demonstration of PML brain lesions on magnetic resonance imaging. With immune reconstitution, the prognosis of PML has improved markedly.

  2. Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

    Directory of Open Access Journals (Sweden)

    Lorenzo Maggi

    2016-08-01

    Full Text Available LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing. Laminopathies are associated with a wide range of disease phenotypes, including neuromuscular, cardiac, metabolic disorders and premature aging syndromes. The most frequent diseases associated with mutations in the LMNA gene are characterized by skeletal and cardiac muscle involvement. This review will focus on genetics and clinical features of laminopathies affecting primarily skeletal muscle. Although only symptomatic treatment is available for these patients, many achievements have been made in clarifying the pathogenesis and improving the management of these diseases.

  3. [Colonic diverticulosis and its complications: pathogenesis, classification and clinical implications].

    Science.gov (United States)

    von Rahden, B H A; Germer, C-T

    2013-12-01

    Current understanding of the pathogenesis of colonic diverticulosis and its complications has certain implications for current therapy concepts, which are summarised here. Colonic diverticula in the Western world are pseudodiverticula predominating in the sigmoid colon. Pathogenesis is multifactorial and includes low-fibre diet, dysmotility, increased intraluminal pressure and morphological changes. Uncomplicated diverticulitis results from microperforations, contradicting the hypothesis of the "abscessed diverticulum". Administration of antibiotics for treatment is controversial. Complicated sigmoid diverticulitis is characterised by an intensive inflammatory infiltrate with macrophages. Immunosuppression and especially steroid intake are identified as risk factors. Nowadays, elective or emergency resection is generally recommended as therapy of first choice. However, contrary concepts with merely conservative treatment or drainage--even for perforated diverticulitis--are emerging. The pathogenesis of chronically recurrent diverticulitis is poorly understood and concepts are changing. Resection after the second episode is replaced by a risk-adapted strategy. Diverticular bleeding occurs due to rupture of a vas rectum at the fundus of the diverticulum. Conservative and endoscopic management is the first line and surgical resection plays a role as salvage-strategy in case of recurrent and life-threatening bleeding. Localising the bleeding, i.e., with angiography, is crucial prior to surgery. The pathophysiology of colonic diverticulosis is complex and incompletely understood and linked with several controversial issues, regarding treatment strategies. Georg Thieme Verlag KG Stuttgart · New York.

  4. Concepts of pathogenesis in psoriatic arthritis: genotype determines clinical phenotype.

    LENUS (Irish Health Repository)

    FitzGerald, Oliver

    2015-05-07

    This review focuses on the genetic features of psoriatic arthritis (PsA) and their relationship to phenotypic heterogeneity in the disease, and addresses three questions: what do the recent studies on human leukocyte antigen (HLA) tell us about the genetic relationship between cutaneous psoriasis (PsO) and PsA - that is, is PsO a unitary phenotype; is PsA a genetically heterogeneous or homogeneous entity; and do the genetic factors implicated in determining susceptibility to PsA predict clinical phenotype? We first discuss the results from comparing the HLA typing of two PsO cohorts: one cohort providing the dermatologic perspective, consisting of patients with PsO without evidence of arthritic disease; and the second cohort providing the rheumatologic perspective, consisting of patients with PsA. We show that these two cohorts differ considerably in their predominant HLA alleles, indicating the heterogeneity of the overall PsO phenotype. Moreover, the genotype of patients in the PsA cohort was shown to be heterogeneous with significant elevations in the frequency of haplotypes containing HLA-B*08, HLA-C*06:02, HLA-B*27, HLA-B*38 and HLA-B*39. Because different genetic susceptibility genes imply different disease mechanisms, and possibly different clinical courses and therapeutic responses, we then review the evidence for a phenotypic difference among patients with PsA who have inherited different HLA alleles. We provide evidence that different alleles and, more importantly, different haplotypes implicated in determining PsA susceptibility are associated with different phenotypic characteristics that appear to be subphenotypes. The implication of these findings for the overall pathophysiologic mechanisms involved in PsA is discussed with specific reference to their bearing on the discussion of whether PsA is conceptualised as an autoimmune process or one that is based on entheseal responses.

  5. Clinical Features and Treatments of Odontogenic Sinusitis

    National Research Council Canada - National Science Library

    Lee, Kyung Chul; Lee, Sung Jin

    2010-01-01

    The aim of this study was to investigate how clinical features such as sex, age, etiologic factors, and presenting symptoms of odontogenic sinusitis are differentiated from other types of sinusitis...

  6. Diagnostic clinical features of atopic dermatitis

    Directory of Open Access Journals (Sweden)

    Sharma Lata

    2001-01-01

    Full Text Available Atopic dermatitis is a common disease which varies widely in clinical presentation at different ages and places. Although authors working in western countries on white races have suggested many criteria, there is no uniform set which can be used in large population studies in this part of the world. Hence keeping in mind differences in environment and ethnicity of population, the present study was carried out. Seventy- three patients of atopic dermatitis and 71 age matched controls were studied. All the subjects were examined using a set of 34 potentially useful clinical features selected from different studies, including features for evaluation of photosensitivity. Multiple regression technique was used for analysing the data. It was found that 6 clinical features were diagnostic, 1. presence of itch, 2. history of flexural involvement, 3. history of dry skin, 4. family history of atopy, 5. personal history of diagnosed asthma and 6, visible flexural dermatitis. Photosensitivity was not a significant feature.

  7. Juvenile myoclonic epilepsy: clinical and EEG features

    DEFF Research Database (Denmark)

    Pedersen, S B; Petersen, K A

    1998-01-01

    We aimed to characterize the clinical profile and EEG features of 43 patients with juvenile myoclonic epilepsy. In a retrospective design we studied the records of, and re-interviewed, 43 patients diagnosed with JME from the epilepsy clinic data base. Furthermore, available EEGs were re...... were sleep deprivation (84%), stress (70%), and alcohol consumption (51%). EEG findings included rapid spike-wave and polyspike-wave....

  8. Clinical Features of Osteogenesis Imperfecta in Taiwan

    Directory of Open Access Journals (Sweden)

    Hsiang-Yu Lin

    2009-07-01

    Conclusion: Nine of the 11 clinical features examined—height, weight, BMD, dentinogenesis imperfecta, bone deformity, scoliosis, walking ability, fracture rate, and family history—were significantly different among the three types of OI patients. This finding may be of help in evaluating patients and establishing their prognosis.

  9. PERIVENTRICULAR LEUCOMALACIA: ETIOLOGY, PATHOGENESIS, CLINICAL SIGNS, OUTCOMES COMMENTS ON THE ARTICLE E.F. YUSUPOVA, D.D. GAYNETDINOVA «PERIVENTRICULAR LEUCOMALACIA: ETIOLOGY, PATHOGENESIS, CLINICAL SIGNS, OUTCOMES»

    Directory of Open Access Journals (Sweden)

    E.F. Yusupova

    2010-01-01

    Full Text Available The problem of perinatal periventricular brain lesions in newborns, playing leading role in forming of disability and disadaptation of nervous system, is discussed in this article. Authors present literature data on periventricular leucomalacia: modern information on etiology and pathogenesis, morphology, clinical symptoms and outcomes.Key words: periventricular leucomalacia, infantile cerebral paralysis, perinatal lesions of brain.(Voprosy sovremennoi pediatrii — Current Pediatrics. – 2010;9(4:68-72

  10. Pharmacogenomic and clinical data link non-pharmacokinetic metabolic dysregulation to drug side effect pathogenesis

    DEFF Research Database (Denmark)

    Zielinski, Daniel C.; Filipp, F. V.; Bordbar, A.

    2015-01-01

    Drug side effects cause a significant clinical and economic burden. However, mechanisms of drug action underlying side effect pathogenesis remain largely unknown. Here, we integrate pharmacogenomic and clinical data with a human metabolic network and find that non-pharmacokinetic metabolic pathways...

  11. 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. PMID:26120146

  12. Chikungunya fever: epidemiology, clinical syndrome, pathogenesis and therapy.

    Science.gov (United States)

    Thiberville, Simon-Djamel; Moyen, Nanikaly; Dupuis-Maguiraga, Laurence; Nougairede, Antoine; Gould, Ernest A; Roques, Pierre; de Lamballerie, Xavier

    2013-09-01

    Chikungunya virus (CHIKV) is the aetiological agent of the mosquito-borne disease chikungunya fever, a debilitating arthritic disease that, during the past 7years, has caused immeasurable morbidity and some mortality in humans, including newborn babies, following its emergence and dispersal out of Africa to the Indian Ocean islands and Asia. Since the first reports of its existence in Africa in the 1950s, more than 1500 scientific publications on the different aspects of the disease and its causative agent have been produced. Analysis of these publications shows that, following a number of studies in the 1960s and 1970s, and in the absence of autochthonous cases in developed countries, the interest of the scientific community remained low. However, in 2005 chikungunya fever unexpectedly re-emerged in the form of devastating epidemics in and around the Indian Ocean. These outbreaks were associated with mutations in the viral genome that facilitated the replication of the virus in Aedes albopictus mosquitoes. Since then, nearly 1000 publications on chikungunya fever have been referenced in the PubMed database. This article provides a comprehensive review of chikungunya fever and CHIKV, including clinical data, epidemiological reports, therapeutic aspects and data relating to animal models for in vivo laboratory studies. It includes Supplementary Tables of all WHO outbreak bulletins, ProMED Mail alerts, viral sequences available on GenBank, and PubMed reports of clinical cases and seroprevalence studies. Copyright © 2013 Elsevier B.V. All rights reserved.

  13. Depressive and paradepressive symptoms clinical features in patients with schizophrenia

    Directory of Open Access Journals (Sweden)

    K. A. Sincha

    2016-01-01

    Full Text Available Aim. Depressive symptoms in patients with schizophrenia, etiology and pathogenesis of which is still not completely uncovered and cause number of complications, decrease quality of life and hinder rehabilitation of the patients. Materials and metods. In order to establish depression and paradepressive symptoms features in patients with schizophrenia the next methods were used: clinical- psychopathological, anamnestic and catamnestic methods. 107 patients with schizophrenia (F20 and 30 patients with schizoaffective disorder, mixed type (F25 were examined. Conclusion. Correlative relationship between depressive, hallucinatory-delusional, deficits and neuroleptic manifestations symptoms has been indicated. factors of induction and amplification of depressive symptoms in patients with schizophrenia were determined. Ethiopsychopathogenic variants of depressive symptoms in patients with schizophrenia were obtained.

  14. Barrett's esophagus: clinical features, obesity, and imaging.

    LENUS (Irish Health Repository)

    Quigley, Eamonn M M

    2011-09-01

    The following includes commentaries on clinical features and imaging of Barrett\\'s esophagus (BE); the clinical factors that influence the development of BE; the influence of body fat distribution and central obesity; the role of adipocytokines and proinflammatory markers in carcinogenesis; the role of body mass index (BMI) in healing of Barrett\\'s epithelium; the role of surgery in prevention of carcinogenesis in BE; the importance of double-contrast esophagography and cross-sectional images of the esophagus; and the value of positron emission tomography\\/computed tomography.

  15. Pathogenesis and clinical implications of optic disk hemorrhage in glaucoma.

    Science.gov (United States)

    Suh, Min Hee; Park, Ki Ho

    2014-01-01

    The association between optic disk hemorrhage and glaucoma has been studied for many years. Recently, randomized clinical trials have confirmed that disk hemorrhage is a risk factor for development and progression of glaucoma. Disk hemorrhage is more commonly detected in open-angle glaucoma with normal tension than in open-angle glaucoma with high tension. Development of disk hemorrhage possibly is associated with the biomechanical properties of the lamina cribrosa and surrounding tissues, including the intraocular pressure (IOP)-cerebrospinal pressure gradient, arterial pressure, and venous pressure. Disk hemorrhage may be a marker of rapid glaucoma progression, in that localized subclinical structural change predisposes to disk hemorrhage, after which subsequent disease progression is accelerated, and recurrent optic disk hemorrhages are related to rapid structural progression of glaucomatous damage. IOP-lowering therapy can be helpful in halting post-hemorrhage glaucoma progression. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. Mercury-induced membranous nephropathy: clinical and pathological features.

    Science.gov (United States)

    Li, Shi-Jun; Zhang, Su-Hua; Chen, Hui-Ping; Zeng, Cai-Hong; Zheng, Chun-Xia; Li, Lei-Shi; Liu, Zhi-Hong

    2010-03-01

    Long-term contact with mercury may induce membranous nephropathy (MN); however, the clinical pathologic features and pathogenesis of mercury-induced MN have not been investigated. The present study retrospectively evaluated 11 cases of mercury-induced MN to analyze its causes and its clinical and pathologic features. A total of 10 women and 1 man ages 15 to 45 years were enrolled in the present study. Mercury exposure was caused by mercury-containing pills (five patients), skin lightening cream (four patients), hair-dyeing agents (one patient), and mercury vapor (one patient). The duration of contact with mercury ranged from 2 to 60 months, and the urinary mercury concentrations were 1.5 to 50 times higher than reference values. All patients presented with proteinuria and normal renal function; three had nephrotic syndrome. Light microscopy revealed thickened glomerular basement membrane and mildly proliferative mesangial cells. Acute tubulointerstitial injury occurred in three patients. The immunofluorescence findings showed granular deposits of IgG and C3 along the glomerular capillary wall, mostly accompanied by deposits of C4 and C1q. IgG1 and IgG4 (predominantly IgG1) deposits were observed along the glomerular capillary loops. Nine patients reached complete remission in follow-up after withdrawal from mercury exposure. Deposits of IgG1 subclasses in renal tissues indicated that the pathogenesis of mercury-induced MN differs from that of idiopathic MN. It is important that clinicians are aware that mercury exposure should be considered a possible cause of membranous nephropathy.

  17. Subcortical laminar heterotopia in two sisters and their mother : MRI, clinical findings and pathogenesis

    NARCIS (Netherlands)

    van der Valk, PHM; Snoeck, [No Value; Meiners, LC; des Portes, [No Value; Chelly, J; Pinard, JM; Ippel, PF; van Nieuwenhuizen, O

    MR imaging, clinical data and underlying pathogenesis of subcortical laminar heterotopia (SCLH), also known as band heterotopia, in two sisters and their mother are presented. On MR imaging a different degree of SCLH was found in all three affected family-members. The inversion recovery sequence was

  18. Goldenhar syndrome: clinical features with orofacial emphasis.

    Science.gov (United States)

    Martelli, Hercílio; Miranda, Roseli Teixeira de; Fernandes, Cassandro Moreira; Bonan, Paulo Rogério Ferreti; Paranaíba, Lívia Máris Ribeiro; Graner, Edgard; Coletta, Ricardo D

    2010-12-01

    Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a brief review of the literature about this genetic disorder is presented. All patients demonstrated the classical triad of GS, including mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies. In addition, renal and gastrointestinal abnormalities were observed in 2 patients. Regarding the oral involvement, 2 patients presented cleft lip and palate, and 1 patient had temporomandibular joint malformation. Malocclusion was found in all patients. Our orofacial findings correlate with the reported cases in the literature, and point out that after diagnosis GS patients need to be examined for systemic abnormalities.

  19. Goldenhar syndrome: clinical features with orofacial emphasis

    Directory of Open Access Journals (Sweden)

    Hercílio Martelli-Júnior

    2010-12-01

    Full Text Available OBJECTIVES: Goldenhar syndrome (GS is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. MATERIAL AND METHODS: The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a brief review of the literature about this genetic disorder is presented. RESULTS: All patients demonstrated the classical triad of GS, including mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies. In addition, renal and gastrointestinal abnormalities were observed in 2 patients. Regarding the oral involvement, 2 patients presented cleft lip and palate, and 1 patient had temporomandibular joint malformation. Malocclusion was found in all patients. CONCLUSION: Our orofacial findings correlate with the reported cases in the literature, and point out that after diagnosis GS patients need to be examined for systemic abnormalities.

  20. Histomorphological Features of Intestinal Atresia and its Clinical Correlation.

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    Subbarayan, Devi; Singh, Meeta; Khurana, Nita; Sathish, Agarwal

    2015-11-01

    Intestinal atresia accounts for approximately one third of all cases of neonatal intestinal obstruction. There is controversy regarding pathogenesis of congenital atresia and stenosis of small bowel. Studies regarding clinical manifestations and specific histopathological features of neonatal intestinal atresia are scarce in Indian literature. To understand the histomorphological features and thus suggest pathophysiology of cases with Intestinal Atresia. Out of 147 cases, of intestinal obstruction in newborn studied over a period of 5 years, 39 cases of intestinal atresia were found. Their histomorphological details with clinical manifestations were studied. Type II was the commonest type of atresia. Associated anomalies noted were gastroschisis, volvulus, anal stenosis, microcolon, annular pancreas, meconium cyst and duplication cyst. Histological changes observed were ulceration, flattening, abnormal villous configuration, luminal obliteration, narrowing, haemangiomatous proliferation of blood vessels, fibrosis, haemorrhage, calcification, and mesenchymal condensation around the blood vessels. Gangrene and perforation has also noted in some cases. An intrauterine intestinal ischemia due to vascular pathology followed by resorption of the bowel is the possible explanation for the development of intestinal atresia.

  1. Medulloepithelioma: A triad of clinical features

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    Ani Peshtani

    2014-01-01

    Full Text Available Background: Intraocular medulloepithelioma arises from the primitive medullary epithelium and is diagnosed at a median age of five years. This tumor most commonly appears as a white, gray, or yellow-colored ciliary body tumor. The growth of medulloepithelioma is slow and it is locally invasive. Poor vision and pain are the most common presenting symptoms. The most common clinical signs include cyst or mass in iris, anterior chamber or ciliary body, glaucoma, and cataract. Case: A 22-month-old Caucasian female twin presented with leukocoria and poor vision in OS. Examination revealed normal findings OD and a mass in OS. Based on the clinical features of leukocoria, lens changes and a white cystic ciliary body mass in a young child, ultrasonographic, and transillumination features, the lesion was diagnosed as a non-pigmented ciliary epithelial medulloepithelioma. After enucleation, the diagnosis of malignant teratoid medulloepithelioma of the non-pigmented ciliary epithelium was confirmed. There was no evidence of tumor recurrence or systemic metastasis at three years follow-up. Conclusion: Medulloepithelioma in a child can present as a clinical triad of leukocoria, lens changes, and a white cystic ciliary body mass.

  2. [Clinical and pathologic features of gastric schwannoma].

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    Wang, Zhan-bo; Shi, Huai-yin; Yuan, Jing; Chen, Wei; Wei, Li-xin

    2012-02-01

    To study the clinical and pathologic features of gastric schwannomas. The macroscopic and microscopic features of 9 cases of gastric schwannoma were analyzed. Immunohistochemical study for S-100 protein, CD117, CD34, neurofilament, desmin, nestin, glial fibrillary acidic protein, platelet derived growth factor-alpha (PDGFR-α) and vimentin was carried out. Mutation analysis of c-kit gene (exon 9, 11, 13 and 17) and PDGFR-α gene (exon 12 and 18) in 1 case was examined by PCR amplification and direct sequencing. The patients included 5 males and 4 females. The age of patients ranged from 42 to 81 years (median = 56.5 years). The size of the tumors ranged from 2 to 9 cm in greatest diameter. Follow-up data in 8 cases (from 1 month to 65 months) showed no evidence of recurrence or metastasis. Gross examination showed that gastric schwannomas were homogeneous, firm, yellow-white and bore no true fibrous capsule. Histologically, all cases were composed of fascicles of spindle cells associated with nuclear palisading, Verocay body formation and peripheral cuff of reactive lymphoid aggregates. Some of them showed degenerative changes including cyst formation, calcification, hemorrhage, necrosis and hyalinization. Immunohistochemical study showed that the tumor cells were strongly positive for S-100 protein and vimentin. There was various degree of staining for nestin (8/9) and glial fibrillary acidic protein (6/9). They were negative for CD117, CD34, neurofilament, desmin and smooth muscle actin. One case showed focal positivity for PDGFR-α (1/9), with no mutations found. Gastric schwannomas share similar histologic features with conventional soft tissue schwannomas, in addition to the presence a reactive lymphoid cuff. The clinical, macroscopic, histologic and immunohistochemical features of gastric schwannomas were different from those of gastrointestinal stromal tumors and leiomyomas.

  3. Clinical features of pure hereditary spastic paraplegia

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    WEI Qian-qian

    2013-07-01

    Full Text Available Objective To study the clinical features and diagnostic methods of patients with pure hereditary spastic paraplegia (HSP. Methods Patients diagnosed with pure HSP from October 2006 to February 2013 admitted to Department of Neurology, West China Hospital, Sichuan University were included. The patients were assessed by the Spastic Paraplegia Rating Scale and the clinical features were reviewed. Results Thirty-three HSP patients (21 men and 12 women were included in the study. Thirteen patients (39.39% had family history of HSP and the most common genetic mode of the familial cases were autosomal dominant inheritance (11/13. The mean age of onset were (20.35 ± 15.55 years and the mean disease duration were (12.77 ± 9.83 years. All of the included patients presented with signs of impairment of the pyramidal tract such as increased muscular tone, tendon hyperreflexia and positive Babinski's sign of the lower limbs. Impairment of the pyramidal tract also presented in the upper limbs in some patients. Scissors gait appeared in 29 patients and feet deformity in 5 patients. Atrophy of thoracic cord on MRI were presented in 5 patients while 2 patients complicated with peripheral nerve damage. Four patients had a novel exon 10-17 deletion in SPG4 gene. There were no differences in onset age, disease duration and mean score of the Spastic Paraplegia Rating Scale between male and female patients as well as between patients with and without family history (P > 0.05, for all. Conclusion The onset age of pure HSP is variational and males are more common than females. The most common inheritance mode is autosomal dominant and most of the cases are characterized by impairment of the pyramidal tract of the lower limbs and occasionally bladder dysfunction and peripheral nerve damage. Gender and family history do not affect the clinical features. Clinical features, family history and spinal cord MRI will assist the correct diagnosis, and making a definite

  4. [Clinical and hematologic features of pediatric leukemias].

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    Hasanbegović, Edo

    2006-01-01

    to present main clinical and hematologic features of pediatric leukemias treated at Hematooncologic department of Pediatric Clinic in Sarajevo during last 7 years. In retrospective study we followed up children with leukemia aged 0-15 who were treated during period of 01.01.1997-31.12.2003. at Hematooncologic department on Pediatric Clinic in Sarajevo. A total number of patient with leukemia was 130 of them 112 (83.2%) had acute lymphoblastic leukemia (ALL), 16 (12.3%) of them had acute myeloid leukemia (AML) and 2 (1.5%) patients had chronic myeloid leukemia (CML). There were 84 (64.6%) boys and 46 (35.4%) girls. Median age of newly diagnosed patients was 6 years and 4 months. Dominant clinical signs were: high temperature-72.9%, fatigue and paleness-74.8% and bone pain-87.9%. Most of the children had leucocitosis (51.5%), anemia (56.1%) and trombocitopenia (57.5%). Most frequent signs at the beginning of the illness are general symptoms like fatigue, unclear febrile state and accented bone pains. Those united signs with complete blood picture finding should be enough reason for suspicion under possible leukemia.

  5. [Clinical features of atypical refractory anemia (RA)].

    Science.gov (United States)

    Matsuda, A; Jinnai, I; Kusumoto, S; Shiramatsu, F; Bessho, M; Saito, M; Hirashima, K

    1991-08-01

    Twenty-three patients with bicytopenia or pancytopenia were retrospectively studied. The patients with underlying disorders, blast count of more than 5% on bone marrow (BM) aspirate, blast count of more than 1% on peripheral blood or ringed sideroblast count of more than 15% on BM aspirate were excluded. According to Yoshida's criteria, 23 patients were classified into 6 subtypes [AA (aplastic anemia)1: typical AA, AA2: atypical AA, MDS (myelodysplastic syndrome)3: typical RA (refractory anemia, MDS4-6: atypical RA], and AA1 7 cases; AA2 2 cases; MDS3 5 cases; MDS4 1 case; MDS5 2 cases; MDS6 6 cases. To clarify the clinical features of atypical RA group (MDS4-6), we investigated ferrokinetics, RBC life span, karyotype, serum Epo (erythropoietin) concentration, response to therapy and prognosis. Results were as follows: 1) all three RA patients who were younger than 30 years old were included in atypical RA group, 2) in ferrokinetics study PID (plasma iron disappearance time) values of MDS4 and MDS6 patients ranged between those of AA1 and those of MDS3 patients (5 of 7 patients), 3) two cases who developed leukemia belonged to typical RA group, 4) patients with atypical RA showed response to therapy and their prognosis were better than those with typical RA. These observations suggest that atypical RA have different clinical features from typical RA.

  6. Mulibrey nanism: clinical features and diagnostic criteria.

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    Karlberg, N; Jalanko, H; Perheentupa, J; Lipsanen-Nyman, M

    2004-02-01

    Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. In this work, we analysed the clinical characteristics of 85 Finnish patients with MUL, most of whom were homozygous for the Finn major mutation of TRIM37. The patients' hospital records from birth to the time of the diagnosis at age 0.02-52 years (median 2.1 years) were retrospectively analysed. All except four of the patients (95%) had a prenatal onset growth failure without postnatal catch up growth. The mean length standard deviation score (SDS) was -3.1 and -4.0 at birth and at diagnosis, respectively. In infancy, feeding difficulties, and respiratory tract infections were the most common problems. Congestive heart failure and pericardial constriction were diagnosed during infancy in 12% and 6% of the patients, respectively. At the time of the diagnosis, characteristic craniofacial features of scaphocephaly, facial triangularity, high and broad forehead, and low nasal bridge were evident in over 90% of the patients. In addition, practically all patients were gracile and had thin extremities. Other findings included a peculiar high-pitched voice (96%), yellowish dots in ocular fundi (79%), cutaneous naevi flammei (65%), hepatomegaly (45%), and fibrous dysplasia of long bones (25%). Mild muscular hypotonicity (68%) was the only neurological abnormality. The clinical features of the Finnish patients with MUL formed a distinct entity. The most consistent findings were growth failure and characteristic craniofacial features. However, organ manifestations varied considerably in early childhood. Based on these findings, we propose new diagnostic criteria for MUL.

  7. Anticonvulsant hypersensitivity syndrome: clinical and laboratory features.

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    Mansur, Ayşe Tülin; Pekcan Yaşar, Sirin; Göktay, Fatih

    2008-11-01

    Anticonvulsant hypersensitivity syndrome (AHS) is a severe adverse drug reaction with multiorgan involvement. Aromatic anticonvulsants are the most frequently involved drugs. This study was aimed to highlight the clinical and laboratory findings of AHS. The medical records of 31 patients diagnosed as AHS in a 12-year period were evaluated retrospectively. The syndrome was related to carbamazepine in 48.38%, phenytoin in 35.48%, lamotrigine in 9.6% and cotreatment with lamotrigine and valproic acid in 6.45% of cases. Symptoms appeared 2-86 (mean: 35.96) days after ingestion of the offending agent. The type of skin rash was maculopapular and/or erythrodermic in 77.42% of patients, bullous in 19.35%, and erythematopustular in 3.22%. Fever and peripheral lymphadenopathy were detected in 61.29% and 54.82% of cases, respectively. Laboratory investigations revealed elevation of hepatic enzymes in 70.96%, leucocytosis in 43.3%, and peripheral eosinophilia in 64.3% of patients. Our analysis showed that carbamazepine and phenytoin are still the major causes of AHS, with lamotrigine being the third etiologic agent. Valproic acid and benzodiazepines are safe alternatives of the causative anticonvulsants. As there are yet no strict diagnostic criteria, the constellation of clinical and laboratory features that occur within 3 months of the associated anticonvulsant agents helps to recognize the disorder. The risk of seizure due to withdrawal or changing of the anticonvulsant drug and the potentially serious clinical features often necessitates providing care and treatment in an inpatient setting.

  8. Clinical features and prognosis of Reye's syndrome.

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    Glasgow, J F

    1984-01-01

    Twenty three sporadic cases of Reye's syndrome diagnosed according to widely accepted criteria were seen between 1979 and 1982. The patients were younger than those reported from North America (median age 9 months), girls were twice as common as boys, and the syndrome presented twice as frequently in the summer 6 months. The annual incidence was 1.4 cases/100 000 among children aged less than 4 years. The prodrome consisted of upper respiratory symptoms in 61% of the children and even less specific features in more than 25%; two patients had varicella. Six of the 23 patients presented after a prodrome of less than 24 hours with 'acute collapse', simulating 'near miss' cot death associated with profound hypoglycaemia, and in four of these there was an unfavourable outcome. Intensive care methods including judicious fluid restriction coupled with 'prophylactic' hyperventilation (87%), direct monitoring of intracranial pressure (70%), and barbiturate coma (52%) achieved neurologically intact survival in 74% of patients. Failure to recognise the syndrome early enough or to manage it appropriately resulted in four deaths. To help reduce overall mortality in the United Kingdom paediatricians have a duty to acquaint family doctors and emergency department staff of the earliest clinical features of Reye's syndrome and of the need for immediate hospital referral. PMID:6712271

  9. Clinical features of multiple spontaneous intracerebral hemorrhages

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    Tao CHANG

    2016-01-01

    Full Text Available Objective To analyze the clinical features of multiple spontaneous intracerebral hemorrhages (MICH. Methods Conservative therapy, puncture and drainage, hematoma removal and/or decompressive craniectomy were used in the treatment of 630 intracerebral hemorrhage (ICH patients, who were divided into 2 groups: 30 cases with MICH and another 600 cases with solitary intracerebral hemorrhage (SICH. Three months after onset, modified Rankin Scale (mRS was used to evaluate the prognosis of all cases. Results Compared with patients in SICH group, the occurrence rate of hypertension > 5 years (P = 0.008, diabetes mellitus (P = 0.024, hypercholesterolemia (P = 0.050 and previous ischemic stroke (P = 0.026 were all significantly higher in MICH group. The mean arterial pressure (MAP level (P = 0.002 and the incidence of limb movement disorder (P = 0.000 were significantly higher in patients with MICH than those with SICH. Basal ganglia and thalamus were the predilection sites of hematoma (P = 0.001. Patients with MICH had worse prognosis compared to those with SICH 3 months after onset (P = 0.006. Conclusions Hypertension > 5 years, diabetes mellitus, hypercholesterolemia and ischemic stroke were identified to be the pathophysiological basis of MICH in this study. All patients with MICH had more serious clinical manifestations after onset and worse prognosis. DOI: 10.3969/j.issn.1672-6731.2016.01.008

  10. Inflammation, Autophagy, and Obesity: Common Features in the Pathogenesis of Pancreatitis and Pancreatic Cancer

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    Gukovsky, Ilya; Li, Ning; Todoric, Jelena; Gukovskaya, Anna; Karin, Michael

    2013-01-01

    Inflammation and autophagy are cellular defense mechanisms. When these processes are deregulated (deficient or overactivated) they produce pathologic effects, such as oxidative stress, metabolic impairments, and cell death. Unresolved inflammation and disrupted regulation of autophagy are common features of pancreatitis and pancreatic cancer. Furthermore, obesity, a risk factor for pancreatitis and pancreatic cancer, promotes inflammation and inhibits or deregulates autophagy, creating an env...

  11. Clinical and microbiological features of cryptococcal meningitis

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    Lucia Kioko Hasimoto e Souza

    2013-06-01

    Full Text Available Introduction In this study, the clinical features, underlying diseases and clinical outcomes of patients with cryptococcosis were investigated. In addition, a molecular analysis of the Cryptococcus neoformans species complex isolated from these patients was performed. Methods A prospective study of 62 cases of patients with cryptococcal infection was conducted at the Hospital de Doenças Tropicais de Goiás Dr. Anuar Auad from 2009-2010. Cryptococcal meningitis cases were diagnosed by direct examination and cerebrospinal fluid (CSF sample culture. The profiling of these patients was assessed. The CSF samples were submitted to India ink preparation and cultured on Sabouraud dextrose agar, and C. neoformans was identified by the production of urease, a positive phenoloxidase test and assimilation of carbohydrates. C. neoformans and C. gattii isolates were distinguished by growth on L-canavanine-glycine-bromothymol blue medium, and molecular analysis was conducted via PCR fingerprinting reactions using M13 and (GACA4 primers. Results From the 62 patients with cryptococcosis, 71 isolates of CSF were obtained; 67 (94.4% isolates were identified as C. neoformans var. grubii/VNI, and 4 (5.6% were identified as C. gattii/VGII. Of these patients, 53 had an HIV diagnosis. The incidence of cryptococcosis was higher among patients 20-40 years of age, with 74.2% of the cases reported in males. Cryptococcus-related mortality was noted in 48.4% of the patients, and the symptoms were altered sensorium, headache, fever and stiff neck. Conclusions The high morbidity and mortality observed among patients with cryptococcosis demonstrate the importance of obtaining information regarding the epidemiological profile and clinical course of the disease in the State of Goiás, Brazil.

  12. Clinical and Molecular Genetic Features of Autoinflammatory Syndromes in Children

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    Е. I. Alexeeva

    2015-01-01

    Full Text Available Objective: Our aim was to study the prevalence and clinical features of autoinflammatory syndromes among patients with systemic juvenile idiopathic arthritis. Methods: A prospective nonrandomized study was conducted. All its members have been studied for mutations in TNFRSF1A and NLRP3 genes by the sequencing method. Results: 90 children (27 boys, 63 girls aged from 1 to 17 (average age 8.2 years, with a guide diagnosis: «Systemic juvenile idiopathic arthritis», were examined. As a result, 10 (14% patients showed mutations in TNFRSF1A gene, leading to the development of TRAPS-syndrome (8 had the most common mutation of R92Q; 3 — not previously described mutations in NLRP3 gene. 2 patients had the diagnosis of CINCA/NOMID Syndrome, 1 — Muckle–Wells Syndrome. In three cases, mutations leading to the development of TRAPS-syndromethe were identified in the first line of descent. Classical examples of autoinflammatory syndromes such as cryopyrin-associated periodic syndrome (CAPS, and tumor necrosis factor receptor associated periodic syndrome (TRAPS. The data about their pathogenesis, clinical features, diagnosis and treatment is presented. Conclusion: It is shown that early detection and adequate treatment of patients with autoinflammatory syndromes, characterized by severe disease and serious prognosis, is difficult due to lack of awareness of pediatricians and unavailability of genetic diagnosis of these syndromes. The necessity of the development of a universal model of the diagnostic algorithm for identification of autoinflammatory syndromes using next-generation sequencing technologies is grounded. 

  13. Clinical Features of Refractory Ascites in Outpatients

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    Wanda Regina Caly

    Full Text Available OBJECTIVES: To present the clinical features and outcomes of outpatients who suffer from refractory ascites. METHODS: This prospective observational study consecutively enrolled patients with cirrhotic ascites who submitted to a clinical evaluation, a sodium restriction diet, biochemical blood tests, 24 hour urine tests and an ascitic fluid analysis. All patients received a multidisciplinary evaluation and diuretic treatment. Patients who did not respond to the diuretic treatment were controlled by therapeutic serial paracentesis, and a transjugular intrahepatic portosystemic shunt was indicated for patients who required therapeutic serial paracentesis up to twice a month. RESULTS: The most common etiology of cirrhosis in both groups was alcoholism [49 refractory (R and 11 non-refractory ascites (NR]. The majority of patients in the refractory group had Child-Pugh class B cirrhosis (p=0.034. The nutritional assessment showed protein-energy malnutrition in 81.6% of the patients in the R group and 35.5% of the patients in the NR group, while hepatic encephalopathy, hernia, spontaneous bacterial peritonitis, upper digestive hemorrhage and type 2 hepatorenal syndrome were present in 51%, 44.9%, 38.8%, 38.8% and 26.5% of the patients in the R group and 9.1%, 18.2%, 0%, 0% and 0% of the patients in the NR group, respectively (p=0.016, p=0.173, p=0.012, p=0.012, and p=0.100, respectively. Mortality occurred in 28.6% of the patients in the R group and in 9.1% of the patients in the NR group (p=0.262. CONCLUSION: Patients with refractory ascites were malnourished, suffered from hernias, had a high prevalence of complications and had a high postoperative death frequency, which was mostly due to infectious processes.

  14. An update on Kawasaki disease II: clinical features, diagnosis, treatment and outcomes.

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    Yim, Deane; Curtis, Nigel; Cheung, Michael; Burgner, David

    2013-08-01

    This is the second of two updates on Kawasaki disease. The first review focused on epidemiology and aetio-pathogenesis. Here, we review the clinical features and diagnosis of Kawasaki disease, as well as recent evidence on treatment, follow-up and cardiovascular outcomes. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  15. The Specific Features of the Pathogenesis and Correction of Critical Conditions in Obstetric Care

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    Yu. S. Podolsky

    2012-01-01

    Full Text Available Objective: to analyze the research areas determining the pathogenesis and correction of critical conditions in obstetric care in the past 15 years on the basis of the dissertations made at the V. A. Negovsky Research Institute of General Reanimatology. Subjects and methods. Nine hundred and twenty-nine pregnant women, parturients, and puerperas were examined; the latter were allocated to comparison groups in terms of age, weight, comorbidity, performed intensive therapy and underwent both retrospective and prospective analysis from 1981 to 2010. The comparison group comprised 44 nonobstetric patients while examining multiple organ dysfunction (MOD in the purperas. The latter with massive blood loss were separately identified when evaluating the impaired oxygen status in patients with systemic inflammatory response syndrome and MOD. According to the pathology and indicators under study, the puerperas with MOD were examined in a few steps (2 to 7. Water sectoral disorders were detected in three steps: on days 1, 3, and 5; these were identified in four steps in case of eclamptic coma (EC, regional anesthesia, and impaired oxygen status. Results. The findings are suggestive of significant impairments in central hemodynamics (CHD in the severe forms of gestosis, which are caused by reductions in cardiac index and circulating blood volume, the basis for these is hypovolemia. Dyshidrosis appears as an increased extracellular sector mainly due to interstitial hyperhydration. The low values of arterial blood oxygen, its delivery and uptake, oxygen extract coefficient and the high value of oxygen debt (OD confirmed blood shunting or circulatory centralization, which was indicative of visceral hypoxia. Determination of the level of cerebral blood flow (CBF in puerperas with coma showed its diminution due to reduced blood flow in the cortical structures. Regional anesthesia in complicated pregnancy and delivery stabilized CHD, dropped the level of

  16. Clinical features of bilateral acute idiopathic maculopathy.

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    Nakazawa, Toru; Yamaguchi, Katsuhiro; Shimura, Masahiko; Yoshida, Madoka; Yoshioka, Yuki; Tamai, Makoto

    2003-01-01

    To describe the clinical course of bilateral acute idiopathic maculopathy (BAIM), and to analyze its pathophysiology. A 33-year-old Japanese woman presented with a sudden, severe, bilateral visual disturbance following a flu-like illness. She was examined by fluorescein angiography (FA), indocyanine green angiography (IA), scanning laser ophthalmoscopy (SLO), optical coherence tomography (OCT), and multifocal electroretinography (mfERG). A diagnosis of BAIM was made in this patient based on typical ophthalmoscopic features, which included a pathognomonic yellowish-white foveal lesion. FA demonstrated a breakdown of the outer blood-retinal barrier, with the size and location corresponding to the white lesion, and IA disclosed a choroidal circulatory disturbance. SLO demonstrated that the deep retinal and choroidal layers were disorganized, and OCT showed retinal edema. Electrophysiological dysfunction was detected by mfERGs. After steroid therapy, the patient's visual acuity recovered to normal. The pooling of fluorescein dye and the OCT-determined retinal edema were resolved. However, the physiological dysfunction detected by mfERGs remained. We conclude that the major abnormality in BAIM is an alteration of the retinal pigment epithelium causing severe edema.

  17. Inflammation, autophagy, and obesity: common features in the pathogenesis of pancreatitis and pancreatic cancer.

    Science.gov (United States)

    Gukovsky, Ilya; Li, Ning; Todoric, Jelena; Gukovskaya, Anna; Karin, Michael

    2013-06-01

    Inflammation and autophagy are cellular defense mechanisms. When these processes are deregulated (deficient or overactivated) they produce pathologic effects, such as oxidative stress, metabolic impairments, and cell death. Unresolved inflammation and disrupted regulation of autophagy are common features of pancreatitis and pancreatic cancer. Furthermore, obesity, a risk factor for pancreatitis and pancreatic cancer, promotes inflammation and inhibits or deregulates autophagy, creating an environment that facilitates the induction and progression of pancreatic diseases. However, little is known about how inflammation, autophagy, and obesity interact to promote exocrine pancreatic disorders. We review the roles of inflammation and autophagy, and their deregulation by obesity, in pancreatic diseases. We discuss the connections among disordered pathways and important areas for future research. Copyright © 2013 AGA Institute. Published by Elsevier Inc. All rights reserved.

  18. Clinical features of acute retinal pigment epitheltis

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    Xue Yao

    2015-01-01

    Full Text Available AIM: To analyze of the clinical features of acute retinal pigment epitheltis(ARPE. METHODS: The clinical data of 36 ARPE patients(40 eyesattending this center from January 2008 to January 2014 were reviewed retrospectively. Of them, 21 patients(58.3%were male(male:female=1:0.71. The mean age was 40.92±7.13 years old(range:17~60y. The mean best-corrected visual acuity(BCVAwas 0.50±0.26 with a range of 0.3~1.0. Thirty-two patients were unilateral cases. All the patients were examined for BCVA, funds photography, fluorescein fundus angiography(FFA, optical coherence tomography(OCT. FFA was shown as three types: type Ⅰ to multiple "black light" or "grape variety" fluorescent spot; Type Ⅱ for I lesions visible fluorescence leakage; Type Ⅲ lesions with choroid neovascularization(CNV. OCT was the following three forms: multiple RPE lesions layer reflection intermittent, proliferation(type Ⅰ; pigment epithelial detachment with limitations neural epithelium(type Ⅱ; types I and II with CNV(type Ⅲ.RESULTS: Ocular fundus showed that the lesions were multiple dark-gray spots with a dark circumscribed area at the macular or nearby in all 40 eyes. FFA showed: 21 eyes were type Ⅰ, 17 eyes were type Ⅱ and 2 eyes were type Ⅲ, BCVA between type Ⅰ and type Ⅱ was statistically significant(PP>0.05. OCT showed 21 eyes wwere type Ⅰ, 17 eyes were type Ⅱ and type Ⅲ 2 eyes. BCVA average between type Ⅰ and Ⅱ was statistically significant(PP>0.05.CONCLUSION: ARPE fundus demonstrated the multiple dark gray discrete lesions, the degree of visual impairment related with the presence of pigment epithelial barrier and lesion location. OCT and FFA characterized three types. FFA is shown as "black light" or "grape variety" fluorescent spot, and is the basis of diagnosis. OCT can display the lesions organization form of each layer clearly. It plays a more and more important role in the diagnosis and differential diagnosis of ARPE.

  19. Clinical Features and Treatments of Odontogenic Sinusitis

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    Lee, Sung Jin

    2010-01-01

    Purpose The aim of this study was to investigate how clinical features such as sex, age, etiologic factors, and presenting symptoms of odontogenic sinusitis are differentiated from other types of sinusitis. Also, this study was designed to find methods for reducing the incidence of odontogenic sinusitis. Materials and Methods A retrospective chart analysis was completed on twenty-seven patients with odontogenic sinusitis. They were all treated at Kangbuk Samsung Hospital between February 2006 and August 2008. The study protocol and informed consent forms were approved by the institutional review boards for human beings at Kangbuk Samsung Hospital. Results Ten patients (37.0%) had dental implant related complications and 8 (29.6%) had dental extraction related complications. Unilateral purulent nasal discharge was the most common symptom (66.7%). The therapeutic modality included transnasal endoscopic sinus surgery in 19 (70.4%) patients, and a Caldwell-Luc operation in two (7.4%) patients. Conclusion In our study, there was no significant difference in the incidence between genders. The average age of the patients was 42.9 years. The incidence was highest in the fourth decade. There were no significant differences between the symptoms of odontogenic sinusitis and that of other types of sinusitis. However, almost all of the patients with odontogenic sinusitis had unilateral symptoms. Iatrogenic causes, which include dental implants and dental extractions, were the most common etiologic factors related to the development of odontogenic sinusitis. Therefore, a preoperative consultation between a rhinologist and a dentist prior to the dental procedure should be able to reduce the incidence of odontogenic sinusitis. PMID:20879062

  20. Clinical and immunological features of retinal vasculitis in systemic diseases

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    Paović Jelena

    2009-01-01

    Full Text Available Background/Aim. Vasculitis is a clinical, pathologic process characterized by inflammation and necrosis of blood vessel occurring anywhere in the body. The aim of the study was to present some clinical and immunologic features of retinal vasculitis in systemic diseases: systemic lupus erythematosus, multiple sclerosis, sarcoidosis, Behcet's diseases, and others. Methods. A total of 1 254 patients with uveitis were included in the study. The immunochemical diagnostic methods were used to determine the pathogenesis of ocular manifestations. Ocular manifestations were examined using biomicroscope, direct or indirect ophtalmoscopy. Results. Primary retinal vasculitis was diagnosed in 85/1254 (6.8% of total uveitis. In more than half of the cases of vasculitis (58.8%, both arteries and veins were involved in inflammatory process. Periphlebitis was diagnosed far more commonly (36.5% than periarteritis (4.7%. Retinal vasculitis associated with systemic lupus erythematosus was characterized by microinfarctions and the consequent foci of inflammatory cells or diseases of large arteries manifesting in vasospasm and occlusions. Cotton wool spots occurred in 38.3% and retinal hemorrhages in 34% of the cases. In this study periphlebitis of the retina was one of the less frequent ocular manifestations of multiple sclerosis. Comparing with the other changes of the retinal blood vessels, venous sheating occurred in 25.1% and occlusion and vein trombosis in 43.75% of the cases. Retinal vasculitis associated with chronic sarcoidosis occured in 37.5% of patients with sarcoidosis. The most frequent manifestation of ocular sarcoidosis was intermediary uveitis (43.75%. Anterior granulomatous uveitis occured in 37.5% of patients with sarcoidoses. Immune complexes occurred in 13/20 (65% of the patients. Antiretinal anti-S antibody in the serum occurred in 73% of the patients with retinal detachment as a complication of primary disease and in 25% those with vasculitis

  1. Clinical features of Klebsiella pneumoniae liver abscess

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    CHEN Fan

    2016-04-01

    Full Text Available ObjectiveTo analyze the clinical data of Klebsiella pneumoniae liver abscess (KPLA, and to provide a reference for early diagnosis and proper treatment. MethodsThe etiological features of 156 patients with bacterial liver abscess (BLA and positive culture results who were hospitalized in The First Hospital Affiliated to Nanjing Medical University from March 2009 to July 2015 were analyzed retrospectively. According to the culture results, BLA patients were divided into KPLA group (81 patients and non-KPLA (NKPLA group (61 patients, and other positive strains including Escherichia coli were found in the other 14 patients with positive culture results for Klebsiella pneumoniae. The clinical, laboratory, and imaging data of KPLA and NKPLA were compared. The t-test was applied for comparison of normally distributed continuous data between groups, and the Mann-Whitney U test was applied for continuous data with skewed distribution between groups; the chi-square test or Fisher′s exact test was applied for comparison of categorical data between groups. ResultsThe most common pathogenic bacteria for BLA were Klebsiella pneumonia. In comparison with the NKPLA group, the KPLA group had a significantly higher proportion of male patients (χ2=4.50, P=0.03, a significantly higher proportion of patients with diabetes (χ2=27.28,P<0.001, and a significantly lower proportion of patients who complained of abdominal pain (χ2=5.24, P=0.02. In the aspects of underlying diseases, the prevalence of biliary tract diseases, previous abdominal surgery, and a history of intraperitoneal tumors showed significant differences between the NKPLA group and the KPLA group (χ2=18.38, 20.87, and 21.68, all P<0.001. As for laboratory examination, the NKPLA group had a significantly greater reduction in hemoglobin compared with the KPLA group (t=4.903, P<0.001. In terms of imaging examination, most BLA patients showed a single lesion in the right lobe of the liver, but

  2. Crimean-Congo hemorrhagic fever: history, epidemiology, pathogenesis, clinical syndrome and genetic diversity.

    Science.gov (United States)

    Bente, Dennis A; Forrester, Naomi L; Watts, Douglas M; McAuley, Alexander J; Whitehouse, Chris A; Bray, Mike

    2013-10-01

    the features of CCHF, including the clinical syndrome, diagnosis, treatment, pathogenesis, vaccine development and laboratory animal models of CCHF. The paper ends with a discussion of the possible future geographic range of the virus. For the benefit of researchers, we include a Supplementary Table listing all published reports of CCHF cases and outbreaks in the English-language literature, plus some principal articles in other languages, with total case numbers, case fatality rates and all CCHFV strains on GenBank. Copyright © 2013 Elsevier B.V. All rights reserved.

  3. Clinical and laboratory features of hepatocellular carcinoma

    Directory of Open Access Journals (Sweden)

    Andrés Cárdenas

    2007-02-01

    have electrolyte disturbances like hyponatremia, hypokalemia, and metabolic alkalosis, associated with defective water handling or with diuretic use. Serum aminotransferases, alkaline phosphatase and gammaglutamyl transpeptidase are often abnormal in a nonspecific pattern. Some serum markers are useful in diagnosis of HCC. The most commonly used is alpha-fetoprotein (AFP. AFP is a glycoprotein that is normally produced during gestation by the fetal liver and the yolk sac.

    In adults, normal values are less than 20 ng/ml and AFP is often elevated in patients with HCC. Serum concentrations of AFP do not correlate with clinical features of HCC, such as size, stage and prognosis but is generally accepted that serum levels greater than 500 ng/ml in a high risk patient is diagnosis of HCC.

    Other serum markers - Because of the limitations of serum AFP measurements, other serum markers of HCC used alone or in combination with the serum AFP have been evaluated for diagnosis or determining prognosis in patients with HCC. These include lens culinaris agglutinin-reactive AFP and des-gamma carboxyprothrombin, glypican-3, human hepatocyte growth factor, and insulin-like growth factor.

     

  4. Clinical features and patient management of Lujo hemorrhagic fever.

    Directory of Open Access Journals (Sweden)

    Nivesh H Sewlall

    Full Text Available In 2008 a nosocomial outbreak of five cases of viral hemorrhagic fever due to a novel arenavirus, Lujo virus, occurred in Johannesburg, South Africa. Lujo virus is only the second pathogenic arenavirus, after Lassa virus, to be recognized in Africa and the first in over 40 years. Because of the remote, resource-poor, and often politically unstable regions where Lassa fever and other viral hemorrhagic fevers typically occur, there have been few opportunities to undertake in-depth study of their clinical manifestations, transmission dynamics, pathogenesis, or response to treatment options typically available in industrialized countries.We describe the clinical features of five cases of Lujo hemorrhagic fever and summarize their clinical management, as well as providing additional epidemiologic detail regarding the 2008 outbreak. Illness typically began with the abrupt onset of fever, malaise, headache, and myalgias followed successively by sore throat, chest pain, gastrointestinal symptoms, rash, minor hemorrhage, subconjunctival injection, and neck and facial swelling over the first week of illness. No major hemorrhage was noted. Neurological signs were sometimes seen in the late stages. Shock and multi-organ system failure, often with evidence of disseminated intravascular coagulopathy, ensued in the second week, with death in four of the five cases. Distinctive treatment components of the one surviving patient included rapid commencement of the antiviral drug ribavirin and administration of HMG-CoA reductase inhibitors (statins, N-acetylcysteine, and recombinant factor VIIa.Lujo virus causes a clinical syndrome remarkably similar to Lassa fever. Considering the high case-fatality and significant logistical impediments to controlled treatment efficacy trials for viral hemorrhagic fever, it is both logical and ethical to explore the use of the various compounds used in the treatment of the surviving case reported here in future outbreaks

  5. Clinical Features of Restless Legs Syndrome

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2004-12-01

    Full Text Available Clinical characteristics of childhood-onset restless legs syndrome (RLS were studied in 32 (5.9% patients, <18 years of age, diagnosed with the disorder among 538 who attended the Pediatric Sleep Disorders Center with sleep-wake complaints, between January 2000 and March 2004, at the Mayo Clinic, Rochester, MN.

  6. [The role of adipose tissue in the pathogenesis and clinical manifestation of Graves' orbitopathy].

    Science.gov (United States)

    Janusz, Przemysław; Pawlak-Adamska, Edyta; Kochanowska, Iwona Ewa; Daroszewski, Jacek

    2013-12-02

    Graves' orbitopathy (GO) is a inflammatory disease of connective tissue with autoimmune background considered as extrathyroidal component of the Graves' disease. Despite a progress in understanding of some elements of the pathogenesis it still remains one of the most complex topics of clinical endocrinology. Clinical symptoms of the orbitopathy derive from the discrepancy between limited space of the orbit and expansion of pathologically affected orbital tissues. In present paper the current state of knowledge concerning the role of orbital adipose tissue in a multifaceted manifestation of the disease as well as its importance in the immune and inflammatory reaction have been reviewed. The role of the major orbital auto antigens (TSHR and IGF1R) as well as hypotheses concerning the putative link connecting pathology of thyroid gland and orbital tissues were discussed.

  7. Clinical manifestations and pathogenesis of cutaneous lymphomas: current status and future directions.

    Science.gov (United States)

    Rubio-Gonzalez, Belen; Zain, Jasmine; Rosen, Steven T; Querfeld, Christiane

    2017-01-01

    The primary cutaneous lymphomas are a heterogeneous group of T-, Natural Killer- and B- cell neoplasms with a wide range of clinical and pathological presentations, and with very different prognoses compared to systemic lymphomas. Recent studies have shown that the skin microenvironment, which is composed of various immune cell subsets as well as their spatial distribution and T-cell interactions through different chemokines and cytokines, has an important role in the development and pathogenesis of cutaneous lymphomas and has assisted in the development of novel and more effective immunotherapies. The following review will focus on the major subtypes of primary cutaneous lymphomas, including the clinical and histological patterns, molecular hallmarks, and current and future treatment strategies. © 2016 John Wiley & Sons Ltd.

  8. Clinical features and diagnosis of venous thrombosis

    Energy Technology Data Exchange (ETDEWEB)

    Hirsh, J.; Hull, R.D.; Raskob, G.E.

    1986-12-01

    The clinical diagnosis of venous thrombosis is inaccurate because the clinical findings are both insensitive and nonspecific. The sensitivity of clinical diagnosis is low because many potentially dangerous venous thrombi are clinically silent. The specificity of clinical diagnosis is low because the symptoms or signs of venous thrombosis all can be caused by nonthrombotic disorders. A current approach to the diagnosis of clinically suspected venous thrombosis favors the use of impedance plethysmography over Doppler ultrasonography as the main test for this disorder. This is because impedance plethysmography is precise and objective, whereas the interpretation of Doppler ultrasonography is subjective and requires considerable skill and experience to form reliable diagnoses. The use of serial impedance plethysmography has been evaluated recently in a prospective study. The rationale of repeated impedance plethysmography evaluation is based on the premise that calf vein thrombi are only clinically important when they extend into the proximal veins, at which point detection with impedance plethysmography is possible. Therefore, by performing repeated examinations with impedance plethysmography in patients with clinically suspected venous thrombosis, it is possible to identify patients with extending calf vein thrombosis who can be treated appropriately. Impedance plethysmography is performed immediately on referral; if it is positive in the absence of clinical conditions that are known to produce falsely positive results, the diagnosis of venous thrombosis is established, and the patient is treated accordingly. If the result of the initial impedance plethysmography evaluation is negative, anticoagulant therapy is withheld, and impedance plethysmography is repeated the following day, again on day 5 to 7 and on day 10 to 14. 87 references.

  9. Clinical features, epidemiology, and therapy of lymphangioleiomyomatosis

    Directory of Open Access Journals (Sweden)

    Taveira-DaSilva AM

    2015-04-01

    only affect the activity of mTOR complex 1, therapies targeting RhoA GTPases with simvastatin, which inhibits Rho GTPases and promotes apoptosis, are being investigated. As in the case of cancer, LAM may be best treated with multiple drugs targeting signaling pathways considered important in the pathogenesis of disease.   Keywords: lymphangioleiomyomatosis, tuberous sclerosis, TSC1 and TSC2 mutations, mammalian target of rapamycin signaling pathway

  10. Modern scleral lenses part I: clinical features.

    NARCIS (Netherlands)

    Visser, E.S.; Visser, R.; Lier, H.J.J. van; Otten, H.M.

    2007-01-01

    PURPOSE: To evaluate the indications for modern scleral lenses and their clinical performance in patients who were fitted with scleral lenses at the authors' practices. METHODS: In this cross-sectional survey, all the necessary data were obtained at the first follow-up visit during the 5-month study

  11. Cachexia: clinical features when inflammation drives malnutrition.

    Science.gov (United States)

    Laviano, Alessandro; Koverech, Angela; Mari, Alessia

    2015-11-01

    Cachexia is a clinically relevant syndrome which impacts on quality of life, morbidity and mortality of patients suffering from acute and chronic diseases. The hallmark of cachexia is muscle loss, which is triggered by disease-associated inflammatory response. Cachexia is a continuum and therefore a staging system is needed. Initially, a three-stage system (i.e. pre-cachexia, cachexia and refractory cachexia) was proposed. More recent evidence supports the use of a five-stage classification system, based on patient's BMI and severity of weight loss, to better predict clinical outcome. Also, large clinical trials in cancer patients demonstrated that cachexia emerging during chemotherapy has greater influence on survival than weight loss at baseline. Therefore, becoming widely accepted is the importance of routinely monitoring patients' nutritional status to detect early changes and diagnose cachexia in its early phases. Although cachexia is associated with the presence of anabolic resistance, it has been shown that sustained yet physiological hyperaminoacidaemia, as well as the use of specific nutrients, is able to overcome impaired protein synthesis and revert catabolism. More importantly, clinical evidence demonstrates that preservation of nutritional status during chemotherapy or improvement of body weight after weight loss is associated with longer survival in cancer patients.

  12. Dysbetalipoproteinaemia-clinical and pathophysiological features ...

    African Journals Online (AJOL)

    Highly effective therapy is available and affected families also benefit from genetic counselling. We present a review of our experience with dysbetalipoproteinaemia at the lipid clinic of Groote Schuur Hospital to enhance awareness of this serious condition, for which the index of suspicion should be raised. Design.

  13. Clinical Features of Ehlers-Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Jui-Lung Yen

    2006-01-01

    Conclusion: The results of this study emphasize the importance of echocardiographic monitoring of aortic size and valvular condition, and assessment of bone mineral density in patients with EDS. Clinical evaluation and counseling should be undertaken prior to pregnancy in patients with EDS because of the risk from labor and vaginal delivery in patients with type IV and the inability to distinguish EDS subtypes in Taiwan due to the unavailability of biochemical assay or molecular mutation analysis as part of standard care.

  14. Coeliac disease: clinical features in adult populations.

    Science.gov (United States)

    Fernández, A; González, L; de-la-Fuente, J

    2010-07-01

    coeliac disease (CD) is a chronic disease of the small intestine, which is caused by gluten intolerance, producing malabsorption of nutrients and vitamins. Clinical manifestations of CD in adults are highly variable, including intestinal and extra-intestinal symptoms. The disease may also occur in individuals who are asymptomatic. our objective is to describe the incidence and clinical manifestations of CD in adults. a retrospective study was carried out in patients diagnosed of CD between January 1990 and December 2008. Diagnosis was based on serologic tests and duodenal biopsy, which were compatible with CD in all of them. sixty eight adult patients were diagnosed of CD in this period. Mean age was 33 (18-65) years and 50 (74%) were women. The clinical manifestations were diarrhoea in 38 (55%), abdominal pain in 27 (40%), loss of weight in 15 (22%), dyspepsia in 13 (19%). Analytical results showed a slight increase of transaminases in 26 (38%), ferropenic anaemia in 33 (48.5%) cases, sub-clinical hypothyroidism in 3 (4.5%) patients, and folic acid deficiency in 16 (23.5%) cases. Almost all patients were diagnosed between 2000 and 2008: 60 (87%). Population-based incidence of CD in adults had increased from 0.7-2/100,000 per year in the nineties to 3.5-10.3/100,000 in the last years. CD can appear at any age and with a wide manifestation spectrum, which can be atypical in some cases. Patients with ferropenic anaemia and a negative response to treatment or those with an unexplained increase in transaminases should be screening for CD. Atypical manifestations and low suspect index can delay diagnosis even during years. There is a marked increase in the incidence-rates of CD in adults over time.

  15. Clinical features of laryngeal tuberculosis in Iran.

    Directory of Open Access Journals (Sweden)

    Mehrdad Hasibi

    2013-09-01

    Full Text Available Tuberculosis is a major health problem in Iran and its laryngeal involvement is not uncommon. Laryngeal tuberculosis is so infectious and delay in diagnosis and treatment could result spread of disease and causes divesting complications. We reviewed clinical and para-clinical characteristics of patients with laryngeal tuberculosis in Iran. In a cross sectional study, patients with laryngeal tuberculosis were studied and followed. All patients admitted from May 2000 to Dec 2011 in Amir-Alam hospital, a referral center for laryngeal diseases in Tehran. We studied 19 cases of laryngeal tuberculosis with typical histopathology (chronic granulomatous inflammation with caseous necrosis and langhans-type giant cells and 6 cases of laryngeal tuberculosis with atypical histopathology (chronic granulomatous inflammation or chronic inflammation without necrosis. They had laryngeal symptoms and signs from 2 to 12 months before definitive diagnosis. Macroscopic appearances of laryngeal lesions were exophytic in 11 cases and ulcerative in 14 cases. True vocal cords were involved in 22 cases. The primary clinical diagnosis was malignancy in 17 cases, tuberculosis in 5 cases, and nonspecific inflammation in 3 cases. The chest x-ray findings were compatible with tuberculosis in 14 patients. The response to anti-tuberculosis therapy was desirable in all patients. In endemic area, tuberculosis should be considered as an important diagnosis in patients with laryngeal lesions even when histopathology of laryngeal lesions is not typical. Association with pulmonary tuberculosis helps for diagnosis.

  16. Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesis.

    Science.gov (United States)

    van der Valk, P H; Snoeck, I; Meiners, L C; des Portes, V; Chelly, J; Pinard, J M; Ippel, P F; van Nieuwenhuizen, O; Peters, A C

    1999-06-01

    MR imaging, clinical data and underlying pathogenesis of subcortical laminar heterotopia (SCLH), also known as band heterotopia, in two sisters and their mother are presented. On MR imaging a different degree of SCLH was found in all three affected family-members. The inversion recovery sequence was considered most useful in the demonstration of the heterotopic band of gray matter and the assessment of cortical thickness. The younger sister presented with epileptic seizures at the age of five months and a delayed achievement of developmental milestones. The older sister of seven years had epileptic seizures since the age of one year, and developmental delay. Their mother has only had one seizure-like episode at the age of 39. Her psychomotor development had been normal. Investigation of DNA samples of the three female family-members revealed a mutation in the X-linked doublecortin gene. Within families with band heterotopia, this gene has also been related to male family members with lissencephaly.

  17. [Advances in Pathogenesis and Related Clinical Research of Thromboembolism in Patients with Thalassemia after Splenectomy].

    Science.gov (United States)

    Sun, Na; Cheng, Peng; Deng, Dong-Hong

    2016-06-01

    Thalassemia is the most common human hereditary hemolytic anemia. Due to splenomegaly and hypersp-lenism, splenectomy can be used as a means of treatment for thalassemia. Various complications following splenectomy, however, especially thromboembolic complications are remarkable. This review summarizes the incidence, clinical manifestations and development time of thromboembolism. The pathogenesis of thromboembolism after splenectomy in thalassemia, such as abnormal platelet number and function, changes in red cell membrane, endothelial cell damage, dysfunction of other procoagulant and anticoagulant factors, and local factors associated with splenectomy are elaborated and the trategies to prevent and treat the thromboembolic events in thalassemia after splenectomy, including the attention to risk factors associated with splenectomy, a reassessment of splenectomy, regular blood transfusion to reduce the ratio of abnormal red blood cells, treatment with anticoagulant and antiplatelet drugs, application of hydroxyurea and stem cell transplantation are discussed.

  18. The epigenomics of polycystic ovarian syndrome: from pathogenesis to clinical manifestations

    DEFF Research Database (Denmark)

    Li, Shuxia; Zhu, Dongyi; Duan, Hongmei

    2016-01-01

    Polycystic ovarian syndrome (PCOS) is a complex condition of ovarian dysfunction and metabolic abnormalities with widely varying clinical manifestations resulting from interference of the genome and the environment through integrative biological mechanisms with the emerging field of epigenetics...... offering an appealing tool for studying the nature and nurture of the disease. We review the current literature of epigenetic studies on PCOS from disease development to the association analysis of the DNA methylome and to exploratory studies on the molecular mechanisms of disease heterogeneity...... and comorbidity. Recent data based on profiling of the DNA methylome of PCOS in different tissues provided consistent molecular evidence in support of epidemiological findings on disease comorbidity suggesting a possible autoimmune basis in the pathogenesis of the disease. We show that the field of epigenetics...

  19. Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility

    Science.gov (United States)

    Ye, Byong Duk; McGovern, Dermot P.B.

    2016-01-01

    Epidemiological and clinical studies have suggested that the pathogenesis of inflammatory bowel disease (IBD) is strongly influenced by genetic predisposition. Beyond the limitations of linkage analysis, multiple genome-wide association studies, their meta-analyses, and targeted genotyping array techniques have broadened our understanding of the genetic architecture of IBD. Currently, over 200 single nucleotide polymorphisms are known to be associated with susceptibility to IBD and through functional analysis of genes and loci, a substantial proportion of pathophysiologic mechanisms have been revealed. However, because only a modest fraction of predicted heritability can be explained by known genes/loci, additional strategies are needed including the identification of rare variants with large effect sizes to help explain the missing heritability. Considerable progress is also being made on applying outcomes of genetic research in diagnostics, classification, prognostics, and the development of new therapeutics of IBD. PMID:27156530

  20. Clinical Features and Outcome of Mucormycosis

    Directory of Open Access Journals (Sweden)

    Carlos Rodrigo Camara-Lemarroy

    2014-01-01

    Full Text Available Mucormycosis (MCM is a life-threatening infection that carries high mortality rates despite recent advances in its diagnosis and treatment. The objective was to report 14 cases of mucormycosis infection and review the relevant literature. We retrospectively analyzed the demographic and clinical data of 14 consecutive patients that presented with MCM in a tertiary-care teaching hospital in northern Mexico. The mean age of the patients was 39.9 (range 5–65. Nine of the patients were male. Ten patients had diabetes mellitus as the underlying disease, and 6 patients had a hematological malignancy (acute leukemia. Of the diabetic patients, 3 had chronic renal failure and 4 presented with diabetic ketoacidosis. All patients had rhinocerebral involvement. In-hospital mortality was 50%. All patients received medical therapy with polyene antifungals and 11 patients underwent surgical therapy. Survivors were significantly younger and less likely to have diabetes than nonsurvivors, and had higher levels of serum albumin on admission. The clinical outcome of patients with MCM is poor. Uncontrolled diabetes and age are negative prognostic factors.

  1. Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis.

    Science.gov (United States)

    Kim, Jong S

    2016-01-01

    Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology remains unknown, recent genetic studies identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. Possibly because of genetic differences, MMD is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. The prevalence of MMD appears to be slightly lower among Chinese, compared to Koreans or Japanese. There are two peaks of incidence with different clinical presentations, at around 10 years and 30-40 years. The peak appears to occur later in women than men. In children, ischemic symptoms, especially transient ischemic attacks, are predominant. Intellectual decline, seizures, and involuntary movements are also more common in this age group. In contrast, adult patients present with intracranial hemorrhage more often than pediatric patients. In patients with MMD, intracerebral hemorrhage is more often accompanied by intraventricular hemorrhage than in patients with hypertensive intracerebral hemorrhage. These different age peaks and different clinical presentations in each age group are also observed in MMD patients in the USA. Catheter angiography is the diagnostic method of choice. Magnetic resonance (MR) angiography and computed tomographic angiography are noninvasive diagnostic methods. High-resolution vessel wall MR imaging also helps diagnose MMD by revealing concentric vessel wall narrowing with basal collaterals.

  2. Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

    Science.gov (United States)

    Kim, Jong S.

    2016-01-01

    Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology remains unknown, recent genetic studies identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. Possibly because of genetic differences, MMD is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. The prevalence of MMD appears to be slightly lower among Chinese, compared to Koreans or Japanese. There are two peaks of incidence with different clinical presentations, at around 10 years and 30-40 years. The peak appears to occur later in women than men. In children, ischemic symptoms, especially transient ischemic attacks, are predominant. Intellectual decline, seizures, and involuntary movements are also more common in this age group. In contrast, adult patients present with intracranial hemorrhage more often than pediatric patients. In patients with MMD, intracerebral hemorrhage is more often accompanied by intraventricular hemorrhage than in patients with hypertensive intracerebral hemorrhage. These different age peaks and different clinical presentations in each age group are also observed in MMD patients in the USA. Catheter angiography is the diagnostic method of choice. Magnetic resonance (MR) angiography and computed tomographic angiography are noninvasive diagnostic methods. High-resolution vessel wall MR imaging also helps diagnose MMD by revealing concentric vessel wall narrowing with basal collaterals. PMID:26846755

  3. [Myelodysplastic syndromes: pathophysiology, clinical and biological features].

    Science.gov (United States)

    Becha, Mohamed; Braham Jmili, Néjia

    2015-01-01

    Myelodysplastic syndromes (MDS) are hemopathies very common in geriatric practice. They are characterized by qualitative morphological abnormalities of one or more myeloid lineages responsible for an ineffective hematopoiesis, and therefore cytopenias of central origin contrasting with a usually rich bone marrow wealth. The MDS are asymptomatic in half of the cases and their discovery is a result of systematic blood analysis or tests to explore another disease. The evolution is marked by worsening cytopenias, and the risk of acute myeloid leukemia transformation with poor prognosis because frequently chemoresistant. The diagnosis of MDS is pronounced after a clinico-biological confrontation to discuss the differential diagnosis taking into account all clinical and cytological data, results of conventional cytogenetics and evolution after vitamin therapy. Knowledge more depth on MDS refine MDS classification criteria by developing successive classifications (FAB 1982, WHO 2001 and 2008) which aim the identification of MDS groups with clinical, biological and common prognostic. The treatment of MDS is essentially symptomatic. The development of new targeted therapeutic strategies enables high hopes in a context where treatment options are a difficult choice, because the advanced age of most patients. Finally, detailed knowledge of risk factors and prognostic scores are very useful to make the best treatment decisions.

  4. Hepatobiliary Fascioliasis: Clinical and Radiological Features

    Directory of Open Access Journals (Sweden)

    K Aghazade

    2007-08-01

    Full Text Available Fascioliasis is a worldwide but unevenly distributed zoonosis caused by the trematode Fasciola hepatica that infects do­mesti­cated herbivores. Fasciolosis also occurs accidentally in humans by ingestion of metacercaria-laden freshwater or water plants. Human infections are common in developing countries and are not rare in Europe. The clinical course has been con­ventionally described in two phases: an acute phase of hepatic parenchymal invasion of an immature worm larva (parenchy­mal phase and a stationary phase after residence in the bile duct and production of eggs (ductal phase. We report a 34 years old woman from Ilam, western Iran with hepatic disorder, RUQ pain, and jaundice. The diagnosis was made by sonography, CT scan and serologic studies. Serologic exam (ELISA was positive & CT findings were compatible with fascioliasis.

  5. Schnitzler syndrome: clinical features and histopathology

    Directory of Open Access Journals (Sweden)

    Dingli D

    2015-06-01

    Full Text Available David Dingli,1,2 Michael J Camilleri3 1Division of Hematology, Department of Internal Medicine, 2Department of Molecular Medicine, 3Department of Dermatology, Mayo Clinic, Rochester, MN, USA Abstract: Schnitzler syndrome is a rare and underrecognized syndrome characterized by chronic urticaria, a monoclonal protein, and a variety of other symptoms, including fever, bone pain, organomegaly, and evidence of an acute phase response. Biopsy of an involved area of the skin shows a neutrophilic infiltrate without evidence of vasculitis or hemorrhage. Although the etiology of the syndrome is unknown, current evidence suggests this is an autoinflammatory syndrome. Recognition of this syndrome is critical since it is highly responsive to anakinra. Keywords: neutrophilic urticarial dermatosis, autoinflammatory syndrome, monoclonal gammopathy, neutrophilic dermatosis, anakinra 

  6. Parkinson’s Disease – the Debate on the Clinical Phenomenology, Aetiology, Pathology and Pathogenesis

    Science.gov (United States)

    Jenner, Peter; Morris, Huw R.; Robbins, Trevor W.; Goedert, Michel; Hardy, John; Ben-Shlomo, Yoav; Bolam, Paul; Burn, David; Hindle, John V.; Brooks, David

    2014-01-01

    The definition of Parkinson’s disease (PD) is changing with the expansion of clinical phenomenology and improved understanding of environmental and genetic influences that impact on the pathogenesis of the disease at the cellular and molecular level. This had led to debate and discussion with as yet, no general acceptance of the direction that change should take either at the level of diagnosis or of what should and should not be sheltered under an umbrella of PD. This article is one contribution to this on-going discussion. There are two different themes running through the article - widening the definition of PD/LBD/synucleinopathies and the heterogeneity that exists within PD itself from a clinical, pathological and genetic per-spective. The conclusion reached is that in the future, further diagnostic categories will need to be recognized. These are likely to include - Parkinson’s syndrome, Parkinson’s syndrome likely to be Lewy body PD, clinical PD (defined by QSBB criteria), Lewy body disease (PD, LBD, REM SBD) and synucleinopathies (including LBD, MSA). PMID:23938306

  7. Transsexualism: Clinical Features and Legal Issues

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2015-12-01

    Full Text Available Although the epidemiological data is generally obtained from the patients that applied for gender reassignment surgery, it is known that transsexualism is not seen as rarely as it was estimated in the past and should be evaluated in detail because of its psychological and social consequences. Etiology remains to be unclear and biological and psychosocial factors are thought to be responsible for its development. Gender identity stabilizes approximately in 3-4 ages and it is impossible to change it after these ages. For this reason the aim of treatment approaches is to improve the conformity of individuals to their identity and life, but not to change the gender identity. The World Professional Association for Transgender Health [WPATH] published a guideline including standards of care [SOC] and SOC provide clinical guidance in follow-up and treatment of transsexual individuals. There is a detailed code in civil law about gender reassignment but when this code implemented strictly, the use of it is very limited and it is clear that a new arrangement is needed in this issue.

  8. [Narcolepsy: etiology, clinical features, diagnosis and treatment].

    Science.gov (United States)

    Zawilska, Jolanta B; Woldan-Tambor, Agata; Płocka, Anna; Kużajska, Katarzyna; Wojcieszak, Jakub

    2012-10-24

     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.

  9. 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.

  10. [Clinical Features and Treatment of Hashimoto Encephalopathy].

    Science.gov (United States)

    Maki, Yoshimitsu; Takashima, Hiroshi

    2016-09-01

    Hashimoto encephalopathy (HE) is characterized by heterogeneous neurological symptoms. HE is diagnosed based on three criteria-the presence of antithyroid antibodies, neurological symptoms from the cerebrum and/or cerebellum, and a positive response to immunotherapy. We clinically analyzed 18 patients (3 men, 15 women; age range, 38-81years) diagnosed with HE in our hospital from May 2013 to January 2016. Eleven patients showed sensory abnormalities such as strong pain, deep muscle pain, dysesthesia, paresthesia, or neuralgia. Surprisingly, the majority of the pain was distributed in a manner that was not explainable anatomically. Seventeen patients showed motor disturbances, such as weakness, paresis of extremities, or dexterity movement disorder, and eight patients showed give-way weakness, which is disruption of continuous muscle contraction. Other symptoms indicative of brain-related anomalies such as tremor, dystonia, involuntary movements, cerebellar ataxia, parkinsonism, memory loss, and chronic fatigue were also seen. In most patients, such motor, sensory, or higher brain functions were markedly improved with immunosuppressive therapies such as prednisolone, azathioprine, or immunoadsorption therapy. Although give-way weakness and anatomically unexplainable pain are typically considered as being psychogenic in origin, the presence of these symptoms is indicative of HE. HE exhibits diffuse involvement of the entire brain and thus, these symptoms are explainable. We propose that physicians should not diagnose somatoform disorders without first excluding autoimmune encephalopathy.

  11. Clinical Features of Late-Onset Seizures

    Directory of Open Access Journals (Sweden)

    Eda Derle

    2016-12-01

    Full Text Available INTRODUCTION: We aimed to evaluate the types of seziures, etiological factors, effectiveness and adverse effects of antiepileptic treatment in the elderly. METHODS: We evaluated the medical data of the 138 patients, who had their first seizure above the age of 65, and admitted to our clinic between years 2011-2013. We determined the type of seizure, etiological factors, seizure reccurence, antiepileptic treatment, adverse effects of the treatment and the rate of patients who were seizure free at the last visit RESULTS: In the 138 patients, whose mean age was 75,62±7.2 years at the time of first seizure, we found the most common seizure type was generalized seizure and the most common etiologic factor was cerebrovascular diseases. Levetirasetam was the most used antiepileptic drug, and for the overall group the rate of adverse effect of the antiepileptic drugs were 20.3%. At the last visit, 89.9% of the patients were seizure free with a mean time of 17.8±22.7 months. DISCUSSION AND CONCLUSION: In conclusion, symptomatic seizures were common in elderly with better response to antiepileptic drugs and usually monotheraphy was sufficent for maintanence of the seizure free period. The side effects and drug interactionsmust be taken into account while choosing the antiepileptic treatment, since the comorbid diseases and multiple drug usage is common in elderly

  12. Gray matter heterotopias: MR and clinical features

    Energy Technology Data Exchange (ETDEWEB)

    Moon, Tae Myung; Yoon, Jeong Hee; Chung, Chun Phil [Maryknoll Hospital, Busan (Korea, Republic of)

    1995-04-15

    To evaluate types of gray matter heterotopias, associated brain anomalies, and its correlation with the patterns of seizure. We evaluated retrospectively 19 patients (male:female=10:9, mean age 21 years) with gray matter heterotopias on brain MRI. Using 1.0T superconducting MR unit, spin echo T1-, proton -density and T2-weighted images in axial, coronal and sagittal planes were obtained. Types of gray matter heterotopias were single subependymal in four patients, multiple subependymal in one, focal subcortical in eight, diffuse subcortical in two, mixed multiple subependymal and focal subcortical in four. Associated anomalies were seen in 11 patients: other neuronal migration anomalies in eight patients, corpus callosum agenesis in two, and combined holoprosencephaly and Dandy-Walker malformation in one. Fifteen patients had seizure. The patterns of seizure were not correlated with the types of heterotopias. In addition to subependymal, focal subcortical, and diffuse subcortical types, gray matter heterotopias included mixed variant of multiple subependymal and subcortical type. Schizencephaly was the most common form of accompanying anomalies, and patterns of seizure were not correlated with types of gray matter heterotopias, even though main clinical manifestation was seizure.

  13. Benign Occipital Epilepsies of Childhood: Clinical Features and Genetics

    Science.gov (United States)

    Taylor, Isabella; Berkovic, Samuel F.; Kivity, Sara; Scheffer, Ingrid E.

    2008-01-01

    The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. Our aim was to explore the clinical features, classification and clinical genetics of these syndromes using twin and multiplex family studies to determine whether…

  14. Clinical Features and Pattern of Presentation of Breast Diseases in ...

    African Journals Online (AJOL)

    of breast diseases. This is a prospective study of the clinical features and pattern of presentation of breast diseases in surgical outpatient clinic of our hospital. .... and four patients with clinical diagnosis of breast cancer. Table 1: Presenting breast complaints in 121 patients. Complaints. Frequency. Percentage. Lump. 111.

  15. 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

  16. 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

  17. Age-Related Differences in Clinical Features of Neurocysticercosis

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-11-01

    Full Text Available Clinical, radiologic, and inflammatory features of neurocysticercosis (NC in 92 pediatric (<15 years and 114 adult Mexican patients were compared in a study at three hospitals in Mexico City.

  18. Laryngeal tumours: clinical features and management challenges as ...

    African Journals Online (AJOL)

    Laryngeal tumours: clinical features and management challenges as seen in two centres in Port Harcourt, Nigeria. ... The commonest mode of presentation was hoarseness (100%). Twenty ... Keywords: Challenges, Management, Laryngeal tumours, Squamous cell carcinoma, Papillomas, Total laryngectomy, Port Harcourt ...

  19. Malaria in South Sudan 2: clinical features and diagnosis

    African Journals Online (AJOL)

    specific symptoms such as malaise. • arthralgia (joint pain). • myalgia (muscle pain) .... more severe clinical disease. Post- partum they are at higher risk of anaemia (7). differential diagnosis. Viral illnesses can present with a variety of features.

  20. Epidemiology and clinical features of patients with hepatocellular ...

    African Journals Online (AJOL)

    2016-02-28

    Feb 28, 2016 ... Background: This study describes the epidemiology and clinical features of hepatocellular carcinoma ... cases seen in SA are the result of underlying chronic ..... may be necessary to explain the occurrence of HCC among.

  1. Autoimmune Thyroiditis: Clinical Course Features and Principles of Differential Therapy

    Directory of Open Access Journals (Sweden)

    L.Ye. Bobyryova

    2014-03-01

    Full Text Available Constant increase in the incidence of autoimmune thyroiditis (AIT in different regions of Ukraine puts this problem in actual number that determines the need to identify features of the clinical course of AIT, the principles of differentiated treatment depending on the nature of the metabolic changes and taking into account regional differences in thyroid pathology, particularly AIT. The paper presents data on the study of features of clinical course and complex treatment of AIT.

  2. The epigenomics of polycystic ovarian syndrome: from pathogenesis to clinical manifestations.

    Science.gov (United States)

    Li, Shuxia; Zhu, Dongyi; Duan, Hongmei; Tan, Qihua

    2016-12-01

    Polycystic ovarian syndrome (PCOS) is a complex condition of ovarian dysfunction and metabolic abnormalities with widely varying clinical manifestations resulting from interference of the genome and the environment through integrative biological mechanisms with the emerging field of epigenetics offering an appealing tool for studying the nature and nurture of the disease. We review the current literature of epigenetic studies on PCOS from disease development to the association analysis of the DNA methylome and to exploratory studies on the molecular mechanisms of disease heterogeneity and comorbidity. Recent data based on profiling of the DNA methylome of PCOS in different tissues provided consistent molecular evidence in support of epidemiological findings on disease comorbidity suggesting a possible autoimmune basis in the pathogenesis of the disease. We show that the field of epigenetics and epigenomics could serve to link molecular regulatory mechanisms with disease development and disease manifestation which could contribute to PCOS prevention and treatment and eventually promote reproductive health in fertile age women. We summarize the up-to-date findings and discuss the implications of various studies and point to new avenues of research on PCOS in the rapidly developing field of epigenetics and epigenomics.

  3. Role of inflammation and infection in the pathogenesis of human acute liver failure: Clinical implications for monitoring and therapy.

    Science.gov (United States)

    Donnelly, Mhairi C; Hayes, Peter C; Simpson, Kenneth J

    2016-07-14

    Acute liver failure is a rare and devastating clinical condition. At present, emergency liver transplantation is the only life-saving therapy in advanced cases, yet the feasibility of transplantation is affected by the presence of systemic inflammation, infection and resultant multi-organ failure. The importance of immune dysregulation and acquisition of infection in the pathogenesis of acute liver failure and its associated complications is now recognised. In this review we discuss current thinking regarding the role of infection and inflammation in the pathogenesis of and outcome in human acute liver failure, the implications for the management of such patients and suggest directions for future research.

  4. Clinical features of emergency department patients with depression ...

    African Journals Online (AJOL)

    Clinical features of poisoning patient with depression. 42. Nigerian Journal of Clinical Practice • Jan-Feb ... existence of depression among the patients presented with a history of poisoning, the largest portion of the .... According to the research result that selective serotonin reuptake inhibitor, an antidepressant drug, may ...

  5. Clinical Features Of Pelvic Inflammatory Disease In Gombe, Nigeria ...

    African Journals Online (AJOL)

    The objective of the study was to evaluate the symptoms and signs of pelvic inflammatory disease among women attending gynaecological clinics. It was retrospective of the clinical features presented by patients over a one year period. Four hundred and eight – nine case of pelvic inflammatory disease were reviewed.

  6. 'Clinical features of women with gout arthritis' : a systematic review

    NARCIS (Netherlands)

    Dirken-Heukensfeldt, K.J.; Teunissen, T.A.M.; Lisdonk, E.H. van de; Lagro-Janssen, A.L.M.

    2010-01-01

    Clinically, gout is generally considered as a preferential male disease. However, it definitely does not occur exclusively in males. Our aim was to assess differences in the clinical features of gout arthritis between female and male patients. Five electronic databases were searched to identify

  7. Visual aggregate analysis of eligibility features of clinical trials.

    Science.gov (United States)

    He, Zhe; Carini, Simona; Sim, Ida; Weng, Chunhua

    2015-04-01

    To develop a method for profiling the collective populations targeted for recruitment by multiple clinical studies addressing the same medical condition using one eligibility feature each time. Using a previously published database COMPACT as the backend, we designed a scalable method for visual aggregate analysis of clinical trial eligibility features. This method consists of four modules for eligibility feature frequency analysis, query builder, distribution analysis, and visualization, respectively. This method is capable of analyzing (1) frequently used qualitative and quantitative features for recruiting subjects for a selected medical condition, (2) distribution of study enrollment on consecutive value points or value intervals of each quantitative feature, and (3) distribution of studies on the boundary values, permissible value ranges, and value range widths of each feature. All analysis results were visualized using Google Charts API. Five recruited potential users assessed the usefulness of this method for identifying common patterns in any selected eligibility feature for clinical trial participant selection. We implemented this method as a Web-based analytical system called VITTA (Visual Analysis Tool of Clinical Study Target Populations). We illustrated the functionality of VITTA using two sample queries involving quantitative features BMI and HbA1c for conditions "hypertension" and "Type 2 diabetes", respectively. The recruited potential users rated the user-perceived usefulness of VITTA with an average score of 86.4/100. We contributed a novel aggregate analysis method to enable the interrogation of common patterns in quantitative eligibility criteria and the collective target populations of multiple related clinical studies. A larger-scale study is warranted to formally assess the usefulness of VITTA among clinical investigators and sponsors in various therapeutic areas. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Variability of clinical features in attacks of migraine with aura

    DEFF Research Database (Denmark)

    Hansen, Jakob M; Goadsby, Peter J; Charles, Andrew C

    2016-01-01

    BACKGROUND: There is significant variability in the clinical presentation of migraine, both among patients, and between attacks in an individual patient. We examined clinical features of migraine with aura in a large group of patients enrolled in a clinical trial, and compared retrospective...... migraine attack characteristics reported upon enrollment in the trial with those recorded prospectively in the trial. METHODS: Patients with migraine (n = 267) with typical visual aura in more than 30% of their attacks were enrolled from 16 centers for a clinical trial. Upon enrollment, patients provided...... a detailed retrospective description of the clinical features of their attacks of migraine. During the trial, clinical symptoms in migraine attacks starting with aura were recorded prospectively in 861 attacks. RESULTS: Retrospectively reported visual aura symptoms were variable and often overlapping...

  9. Bench-to-bedside review: Bacterial pneumonia with influenza - pathogenesis and clinical implications

    NARCIS (Netherlands)

    van der Sluijs, K.F.; van der Poll, T.; Lutter, R.; Juffermans, N.P.; Schultz, M.J.

    2010-01-01

    Seasonal and pandemic influenza are frequently complicated by bacterial infections, causing additional hospitalization and mortality. Secondary bacterial respiratory infection can be subdivided into combined viral/bacterial pneumonia and post-influenza pneumonia, which differ in their pathogenesis.

  10. Pathogenesis of acne vulgaris: what's new, what's interesting and what may be clinically relevant.

    Science.gov (United States)

    Bellew, Susun; Thiboutot, Diane; Del Rosso, James Q

    2011-06-01

    Acne vulgaris is the most common skin disorder seen in dermatology and primary care offices today with significant associated morbidity. The pathogenesis of acne is complex and multifactorial, and there continues to be an influx of new information to increase our understanding of this chronic disease. Recent advances in acne pathogenesis will be discussed, including theories regarding the sequence of events in acne formation, the functions of P. acnes, TLR involvement and role of the sebaceous gland and factors influencing sebum production.

  11. Psoriasis: Epidemiology, clinical features, co-morbidities, and clinical scoring

    Directory of Open Access Journals (Sweden)

    Sunil Dogra

    2016-01-01

    Full Text Available On the basis of current evidence derived from hospital-based studies, mostly from North India, the prevalence of psoriasis in adults varies from 0.44 to 2.8%, with a much lower prevalence in children. The peak age at onset in adults is in the third and fourth decade of life, with a slight male preponderance. It is recommended that population-based large epidemiologic studies should be undertaken in different parts of the country for estimating the correct prevalence of psoriasis in general population. Chronic plaque-type psoriasis is the most common morphologic presentation of psoriasis, accounting for more than 90% of all cases. Other morphologic variants that deserve special mention include palmoplantar psoriasis, pustular psoriasis, and recalcitrant psoriasis.For epidemiologic purposes, psoriasis can be classified into early and late onset psoriasis. Psoriasis can be classified on the basis of morphology and extent of involvement into localized and widespread disease.For the purpose of clinical trials, psoriasis may be classified as mild psoriasis, moderate psoriasis, and severe psoriasis. The literature shows that there is a significant risk of psoriatic arthritis (7–48% in patients with plaque-type psoriasis. Hence, it is recommended to evaluate for its presence by detailed history taking and clinical examination, and if necessary, by appropriate radiological investigations. Evidence on the association between plaque-type psoriasis and cardiovascular disease risk factors and ischemic heart disease isinconsistent.On the basis ofavailable evidence, it is prudent to proactively look for metabolic syndrome, dyslipidemia, and obesity, especially in patientswith severe psoriasis (Level 1+ evidence based on systematic reviews and meta-analysis. Based on the current evidence, the psoriasis area severity index appears to be the most valid and reproducible clinical severity score in the management of adult patients with plaque-type psoriasis.

  12. Psychosomatic regularities of psychotic disorders of women in involution (pathogenesis, clinics, psychodynamic psychotherapy

    Directory of Open Access Journals (Sweden)

    М. М. Pustovoyt

    2017-08-01

    Full Text Available The problem of psychotic disorders with onset in the age of involution from broader perspective, guided by modern multidimensional paradigm, was never discussed before. Involutional psychosis is considered as a constellation of the biological changes that are irrefutable in this age period. Certain personality traits and coping strategies can be predisposing to psychotic response, as well as typical features of the “life curve” and external stressors that can run a psychotic reaction. The paper presents the result of our study. This study pays much attention to study of premorbid personality, with emphasis on characteristic features, peculiarities of the emotional reaction and motivation-behavioral area, which completely coincided with characteristics of the narcissistic personality disorder listed in DSM-V (2013. Aim: To explore the psychosomatic pathogenetic connections inherent involutionary psychosis, given pathogenic and pathoplastic impact of premorbid personality structure their syndromic form and dynamics, determine their place on the psychosomatic continuum and develop adequate and pathogenetic justified method of therapy. Methods. Data obtained by the clinical method were confirmed by the results of experimental psychological and neuropsychological researches. Results. Clinical characteristics of psychotic disorders in the patient population showed in the structure of psychosis the existence of two oppositely directed continuums: affective (depressive and delusional. This allows to allocate four main clinical forms of psychosis and their tendency to unite in two clusters that differed each other by the features, and also by their response to therapy and, therefore, by the prognosis. Conclusions: The psychodynamic approach to understanding the involutional psychosis, that was introduced by the author, got natural development in the proposed method of treatment that included complex medication and psychotherapy. The schemes of

  13. The microcephaly-capillary malformation syndrome in two brothers with novel clinical features.

    Science.gov (United States)

    Pavlović, Milen; Neubauer, David; Al Tawari, Asma; Heberle, Lada Cindro

    2014-10-01

    Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth. Recently, mutations in the STAMBP gene have been identified as causative in the pathogenesis of this syndrome. We describe two brothers (ages 7 and 12 years) from consanguineous parents of Saudi ancestry. Along with the established main clinical features of this syndrome, these boys exhibited certain novel and distinctive phenotypic features (congenital hypothyroidism and autistic-like behavior with intermittent repetitive hand-flapping movements). Genetic studies revealed the presence of homozygous pathogenic STAMPB mutation. This report presents the longest follow-up of patients with microcephaly-capillary syndrome so far reported and emphasize the syndrome's phenotype variability. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Clinical Features of Pulmonary Sarcoidosis Complicated by Lung Cancer

    OpenAIRE

    Iijima, Yuki; Sugiyama, Yukihiko; Sawahata, Michiru; Nakayama, Masayuki; Bando, Masashi

    2017-01-01

    Objective For lung cancer complicated with sarcoidosis, there are no exact features that indicate whether lymphadenopathy is metastatic. This makes the validity of surgery uncertain for clinicians. The aim of this study was to clarify the clinical features of pulmonary sarcoidosis complicated by lung cancer, especially from the viewpoint of evaluating lymphadenopathy. Methods We retrospectively reviewed medical records from 2004 to 2013 at our institution, and 18 patients who were diagnosed w...

  15. The biology, pathogenesis and clinical aspects of acute lymphoblastic leukemia in children with Down syndrome.

    Science.gov (United States)

    Lee, P; Bhansali, R; Izraeli, S; Hijiya, N; Crispino, J D

    2016-09-01

    Children with Down syndrome (DS) are at a 20-fold increased risk for acute lymphoblastic leukemia (DS-ALL). Although the etiology of this higher risk of developing leukemia remains largely unclear, the recent identification of CRLF2 (cytokine receptor like factor 2) and JAK2 mutations and study of the effect of trisomy of Hmgn1 and Dyrk1a (dual-specificity tyrosine phosphorylation-regulated kinase 1A) on B-cell development have shed significant new light on the disease process. Here we focus on the clinical features, biology and genetics of ALL in children with DS. We review the unique characteristics of DS-ALL on both the clinical and molecular levels and discuss the differences in treatments and outcomes in ALL in children with DS compared with those without DS. The identification of new biological insights is expected to pave the way for novel targeted therapies.

  16. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.

    Science.gov (United States)

    Tanna, Preena; Strauss, Rupert W; Fujinami, Kaoru; Michaelides, Michel

    2017-01-01

    Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4 Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies. The aims of this review are to describe the detailed phenotypic and genotypic characteristics of the disease, conventional and novel imaging findings, current knowledge of animal models and pathogenesis, and the multiple avenues of intervention being explored. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  17. Human heterotaxy syndrome – from molecular genetics to clinical features, management, and prognosis – .

    Science.gov (United States)

    Shiraishi, Isao; Ichikawa, Hajime

    2012-01-01

    Human heterotaxy syndrome is characterized by a wide variety of cardiac and extracardiac congenital malformations that are primarily induced by disorders of the left-right axis determination during early embryonic development. The cellular and molecular mechanisms of the left-right asymmetry have been extensively investigated in the past decade and the developmental mechanisms of the syndrome have been considerably elucidated. Medical and surgical management and treatment of heterotaxy syndrome have advanced as well. However, prognosis of the disease still remains unsatisfactory because the syndrome is often associated with a combination of complicated congenital heart diseases. Management of heterotaxy patients, particularly those who have undergone the Fontan procedure, is now one of the most important issues in pediatric and adult congenital heart disease clinics. In this review, we focus on the recent advances in knowledge of the genetic and molecular pathogenesis of heterotaxy syndrome, as well as its clinical features, management, and prognosis.

  18. [Porcine stress syndrome and PSE meat: clinical symptoms, pathogenesis, etiology and animal rights aspects].

    Science.gov (United States)

    Wendt, M; Bickhardt, K; Herzog, A; Fischer, A; Martens, H; Richter, T

    2000-05-01

    A review is given about the clinical symptoms, pathogenesis and aetiology of the porcine stress syndrome, furthermore aspects of animal welfare are discussed. The current breeding programmes of pig industry in Germany in many cases include animals with a mutation of the ryanodine-receptor (RYR-1)-gene--homozygous or heterozygous. This situation is the result of an intensive breeding of pigs during the last decades with the intention of increased lean carcass content and corresponding proceeds. The homozygous pigs are more stress susceptible (porcine stress syndrome) and produce meat of poor quality (PSE), which is also the case to some extend in heterozygous animals. The clinical symptoms of this muscle disease are characterised by a deficit of oxygen and a rapid glycolysis accompanied by a production of lactic acid and acidosis primarily in II B white muscle fibres. There is no doubt that a very close causal relation exists between the mutation of the RYR-1 and the porcine stress syndrome as well as the poor meat quality. The present knowledge of this disease, the genetic background, the physiology and pathophysiology of the mutation of the RYR-1 leads to the imperative conclusion to eliminate this mutated RYR-1 by selection of healthy pigs, which has been done successfully in other countries with important pig production. This conclusion is also supported by simple economic reasons because fertility, reproduction and daily weight gain are significantly reduced in stress susceptible pigs. Furthermore, it should be emphasised that regular breeding with the mutated RYR-1 is also a matter of animal welfare. The evident correlation between the mutated RYR-1 and the porcine stress syndrome, which includes degeneration of the muscle, pain and even life threatening malignant hyperthermia, can easily lead to the accusation in the public that diseased animals are used for pig meat production. Consequently, the authors would like to urge the breeding companies and the

  19. Clinical features of situational and nonsituational major depression.

    Science.gov (United States)

    Joffe, R T; Levitt, A J; Bagby, R M; Regan, J J

    1993-01-01

    Clinical lore has long supported the subtype of situational or reactive depression. To date, however, there has been limited empirical research support for this subtype of major depression. We examined demographic, clinical and personality features of situational and nonsituational depression in 89 outpatients with unipolar nonpsychotic major depressive disorder. Situational depressives had a less recurrent course of illness and appeared to respond more completely to the antidepressant used for their current episode. Demographic and personality measures did not distinguish situational and nonsituational depression.

  20. Clinical and Radiological Features of Multiple Myeloma Patients at ...

    African Journals Online (AJOL)

    Objectives: To evaluate the clinical and radiological features of Multiple Myeloma at presentation in patients presenting at the University Teaching Hospital (UTH), Lusaka, Zambia. Design: Descriptive study. Methods and Results: Record files of patients diagnosed with MM from 2008-2015 April were reviewed. Data was ...

  1. Clinical features of malaria parasiteamia among children in parts of ...

    African Journals Online (AJOL)

    This study was carried out to investigate the prevalence of malaria parasitamiae and its clinical features in children aged 0-5 years in parts of Delta State of Nigeria. Blood samples were randomly collected from the thumb of each child using the finger prick method. A total of 600 blood samples (360 males and 240 females) ...

  2. Clinical and dermoscopic features of congenital melanocytic nevi

    Directory of Open Access Journals (Sweden)

    Murat Orhan Oztas

    2010-06-01

    Conclusions: Our study describes the normal clinical and dermoscopic features of CMN. It should be kept in mind that, CMNs are quite common lesions, and melanomas can arise from them. Knowing and being familiar with the normal properties of these common nevi will help us determine whether a nevus is suspicious or not.

  3. Autism in Children: Clinical Features, Management and Challenges ...

    African Journals Online (AJOL)

    Objective: This paper highlights the clinical features and management of autism. It also discusses current challenges of autism and its management. Method: Data was sourced from literature in world health organization (WHO) and published articles on autism and internet Medline publications. Results: Autism is ...

  4. Clinical and Biochemical Features of Type 2 Diabetic Patients in ...

    African Journals Online (AJOL)

    ... obesity and micro- or macroalbuminuria. HbA1c%, ALP, cholesterol, triglycerides and LDLC were higher in diabetics than controls. In contrast, urea, creatinine and HDLC were lower in diabetics. Keywords: Clinical and Biochemical Features, Gaza Strip, Type 2 Diabetes, Lipids, albuminuria, Family history, complications.

  5. Clinical and echocardiographic features of children with rheumatic ...

    African Journals Online (AJOL)

    Clinical and echocardiographic features of children with rheumatic carditis: correlation with high sensitivity C-reactive protein. ... Mitral regurgitation (MR) was found in 65 patients (98%), it was severe in 42 patients (64%), combined with aortic regurgitation (AR) in 27 patients (41%) and with Mitral stenosis (MS) in 3 patients ...

  6. the prevalence, clinical features, risk factors and outcome ...

    African Journals Online (AJOL)

    East African Medical Journal Vol. 87 No. 12 December 2010. THE PREVALENCE, CLINICAL FEATURES, RISK FACTORS AND OUTCOME ASSOCIATED WITH CRYPTOCOCCAL. MENINGITIS IN HIV POSITIVE PATIENTS IN KENYA. R. Mdodo, MS, DrPH, University of Alabama at Birmingham (UAB) School of Public ...

  7. Tuberculous anal fistulas – prevalence and clinical features in an ...

    African Journals Online (AJOL)

    Introduction. The aim of this study was to determine the prevalence of tuberculosis (TB) in anal fistulas at a referral hospital in Cape Town, and to document the clinical features and course of patients with tuberculous anal fistulas. Patients and methods. This was a prospective study of all patients who underwent surgery for ...

  8. Neurocognitive impairment in plwha: clinical features and assessment

    African Journals Online (AJOL)

    AIDS (PLWHA), depending on the severity of the NCI and the stage of the disease. The clinical features and definitions have evolved over the past two decades. HIV-associated neurocognitive disorder (HAND) is a new term used to describe the ...

  9. 2. Clinical and Radiological Features of Multiple Myeloma Patients ...

    African Journals Online (AJOL)

    ESEM

    46 record ... Background: Multiple myeloma (MM) is the second most common blood cancer after lymphomas, thereby accounting for 10% of all haematological malignancies. Objectives: To evaluate the clinical and radiological features of Multiple Myeloma at presentation in patients presenting at the University Teaching ...

  10. Chronic Fatigue Syndrome in Adolescents: treatment, clinical features and epidemiology

    NARCIS (Netherlands)

    Nijhof, S.L.

    2013-01-01

    This thesis describes the treatment, epidemiology and clinical features of the adolescent chronic fatigue syndrome (CFS). Fatigue is a common complaint among adolescents, with a reported incidence of up to 20% in girls. This fatigue however is not chronic, does not debilitate and has an identifiable

  11. Epidemiology and clinical features of patients with hepatocellular ...

    African Journals Online (AJOL)

    2016-02-28

    Feb 28, 2016 ... Background: This study describes the epidemiology and clinical features of hepatocellular carcinoma (HCC), and it investigates any association between Child‑Pugh's classification and HCC. Materials and Methods: A retrospective chart review was performed for HCC cases diagnosed between 2008 and ...

  12. Epidemiology and clinical features of patients with hepatocellular ...

    African Journals Online (AJOL)

    Background: This study describes the epidemiology and clinical features of hepatocellular carcinoma (HCC), and it investigates any association between Child‑Pugh's classification and HCC. Materials and Methods: A retrospective chart review was performed for HCC cases diagnosed between 2008 and 2014 at King ...

  13. Chronic actinic dermatitis - A study of clinical features

    Directory of Open Access Journals (Sweden)

    Somani Vijay

    2005-01-01

    Full Text Available Background: Chronic actinic dermatitis (CAD, one of the immune mediated photo-dermatoses, comprises a spectrum of conditions including persistent light reactivity, photosensitive eczema and actinic reticuloid. Diagnostic criteria were laid down about 20 years back, but clinical features are the mainstay in diagnosis. In addition to extreme sensitivity to UVB, UVA and/or visible light, about three quarters of patients exhibit contact sensitivity to several allergens, which may contribute to the etiopathogenesis of CAD. This study was undertaken to examine the clinical features of CAD in India and to evaluate the relevance of patch testing and photo-aggravation testing in the diagnosis of CAD. Methods: The clinical data of nine patients with CAD were analyzed. Histopathology, patch testing and photo-aggravation testing were also performed. Results: All the patients were males. The average age of onset was 57 years. The first episode was usually noticed in the beginning of summer. Later the disease gradually tended to be perennial, without any seasonal variations. The areas affected were mainly the photo-exposed areas in all patients, and the back in three patients. Erythroderma was the presenting feature in two patients. The palms and soles were involved in five patients. Patch testing was positive in seven of nine patients. Conclusions: The diagnosis of CAD mainly depended upon the history and clinical features. The incidence of erythroderma and palmoplantar eczema was high in our series. Occupation seems to play a role in the etiopathogenesis of CAD.

  14. Aetiological agents, clinical features and outcome of septicaemia in ...

    African Journals Online (AJOL)

    Summary. The present study sought to determine the preva- lence, clinical features and bacterial aetiological agents of septicaemia in post~neonatal infants (age 1—12 months) presenting with fever at the University College Hospital,. Ibadan, Nigeria. Study Setting: It was carried out at the Otunba Tunwase. Children ...

  15. Clinical Features Of Malaria And Typhoid Fever | Mba | Journal of ...

    African Journals Online (AJOL)

    Features to distinguish Malaria from Typhoid fever. These can be discerned from a good and detailed clinical history, in addition to a thorough physical examination. The following would help. The paroxysms of malaria fever as against the step ladder pattern fever of typhoid fever. The prominence of headaches in typhoid ...

  16. Clinical and audiometric features of presbycusis in Nigerians

    African Journals Online (AJOL)

    EB

    There was positive history of ototoxic drugs usage in 24.6 %, family history in 11.6 %, hypertension in 34.8% and ... Keywords: Presbycusis, Nigerians, Audiometry, Clinical features, Elderly ... presence of other chronic diseases like diabetes, hypertension .... hearing threshold levels in adults suggested that age related high ...

  17. Clinical features and respiratory complications in Myhre syndrome

    NARCIS (Netherlands)

    McGowan, Ruth; Gulati, Ramkumar; McHenry, Pamela; Cooke, Alexander; Butler, Sandra; Keng, Wee Teik; Murday, Victoria; Whiteford, Margo; Dikkers, Frederik G.; Sikkema-Raddatz, Brigit; van Essen, Ton; Tolmie, John

    2011-01-01

    We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male's mother had short stature, some facial features

  18. Adult Chronic Rhinosinusitis: Spectrum of Clinical features and ...

    African Journals Online (AJOL)

    Chronic rhinosinusitis occurs when this inflammation and the symptoms persist for more than 3 months. The objective of this study was to evaluate the clinical features and management of adult chronic rhinosinusitis in a tertiary health institution and to review the literature for its current modalities of management. Methods: ...

  19. PATHOGENESIS AND CLINICAL FEATURES OF ANEMIA OF INFLAMMATION IN CHILDREN, DURING CHRONIC HBV INFECTION

    OpenAIRE

    INOYATOVA FLORA ILYASOVNA; IKRAMOVA NODIRA ANVAROVNA; INOGAMOVA GULNOZA ZAXIDJANOVNA

    2016-01-01

    Examination of 125 children with chronic hepatitis B (CHB) and concomitant anemia has ascertained the frequency of refractory variants of anemia (52.5%). The disease progressed seriously on the background of anemia, that was indicated the prevalence of CHB with severe activity forms (71.4%). The pathognomonic symptoms of anemic processes were revealed. Two pathogenetic variants of the anemia inflammation genesis at children with CHB are being considered: the first is defined by veritable iron...

  20. Clinical Relevance of Environmental Factors in the Pathogenesis of Autoimmune Thyroid Disease

    NARCIS (Netherlands)

    Wiersinga, Wilmar M.

    2016-01-01

    Genetic factors contribute for about 70% to 80% and environmental factors for about 20% to 30% to the pathogenesis of autoimmune thyroid disease (AITD). Relatives of AITD patients carry a risk to contract AITD themselves. The 5-year risk can be quantified by the so-called Thyroid Events

  1. Clinical and radiological features of hypertensive brainstem encephalopathy

    Directory of Open Access Journals (Sweden)

    Xiao-qiu LI

    2015-07-01

    Full Text Available Objective To discuss the diagnosis and treatment of hypertensive brainstem encephalopathy. Methods  The clinical and imaging data of 3 cases of hypertensive brainstem encephalopathy were summarized and analyzed for the purpose of improving the acumen in diagnosis and treatment. Results All the 3 patients showed relatively mild clinical symptoms, and they were misdiagnosed in different degrees during the treatment, but their clinical symptoms were improved by rapid and effective antihypertensive therapy. Cerebral CT and MRI scans revealed extensive abnormal signals in brain stem, with or without supratentorial lesions and brain stem hemorrhage. The lesions as revealed by imaging were improved significantly after treatment. Conclusions Clinical-radiographic dissociation is the classic feature of hypertensive brainstem encephalopathy. The clinical symptoms and lesions as shown by imaging could be improved after active treatment. DOI: 10.11855/j.issn.0577-7402.2015.06.03

  2. Clinical and Anamnestic Features of Hepatic Steatosis in Children

    Directory of Open Access Journals (Sweden)

    N.Yu. Zavgorodnia

    2015-11-01

    Full Text Available The article is devoted to the study of clinical and anamnestic features of hepatic steatosis in children. The results of a comparative analysis of survey data of patients with evidence of hepatic steatosis and patients without steatosis were shown. The presence and degree of hepatic steatosis was found using FibroScan-touch-502 by measuring controlled attenuation parameter (CAP. The features of lifestyle and nutrition of children with steatosis were determined: hypodynamic lifestyle, the prevalence of fast food habits, insufficient consumption of liquid. It was established that hepatic steatosis is closely associated with obesity and hypothalamic disorders, increased both blood pressure and serum levels of atherogenic lipids.

  3. Evaluation of clinical features of 11 cases with DRESS syndrome

    Directory of Open Access Journals (Sweden)

    Selma Emre

    2013-12-01

    Full Text Available Background and design: DRESS (Drug Rash with Eoshinophilia and Systemic Symptoms syndrome is a severe reaction induced by drugs and accompanied by cutaneous, hematologic and solid organ involvement. Since the syndrome requires specific treatments and has high mortality rates, early diagnosis is very important. In our country, any descriptive study has not been reported about patients with DRESS syndrome except for a few case presentations. Therefore, we aimed to investigate the clinical characteristics of patients with DRESS syndrome diagnosed and treated in our inpatient clinic. Material and method: The records of patients diagnosed as DRESS syndrome or drug eruption were retrospectively analyzed. Scoring system created by a RegiSCAR group was used. Patients with certain, probable and possible DRESS syndrome were identified. Clinical features, laboratory findings and etiological factors were noted. Results: Seven males and 4 females with DRESS syndrome were enrolled. Nine patients were identified as definite case and two were probable DRESS syndrome. Aromatic anticonvulsants were the only responsible drugs (phenytoin in 5, carbamezepine in 3, lamotrigine in 3 patients. All patients had cutaneous manifestations and hematological abnormalities. Fever, liver function impairment, lymphadenopathy, renal disease and pneumonia were the clinical findings in order of frequency. Cessation of responsible drugs and treatment with systemic corticosteroids achieved full remission in all patients. Conclusion: DRESS syndrome may present with various clinical manifestations. Because signs and symptoms form the basis for recognition of the disease, good knowledge of clinical features is important in early diagnosing of DRESS syndrome and reduction of mortality and morbidity.

  4. Neurodegenerative 'overlap' syndrome: Clinical and pathological features of Parkinson's disease, motor neuron disease, and Alzheimer's disease.

    Science.gov (United States)

    Uitti, R J; Berry, K; Yasuhara, O; Eisen, A; Feldman, H; McGeer, P L; Calne, D B

    1995-07-01

    Parkinson's disease (PD), Alzheimer's disease (AD), and motor neuron disease (MND) share epidemiological, clinical, and pathological features. Few studies have reported comprehensively on individuals who demonstrate a neurodegenerative 'overlap' syndrome, comprising idiopathic parkinsonism, dementia, and motor neuron dysfunction. We describe clinical, electrophysiological, and pathological features in six patients with neurodegenerative 'overlap' syndrome. All had cardinal features of PD (duration 6-26 years), and any mixture of dementia (slowly advancing), fasciculations, hyperreflexia, Babinski signs and mild atrophy and weakness of distal muscles (slowly progressive). EMG often demonstrated a lack of denervation in conjunction with abnormal MEPs (high thresholds). Patients had either 6FD-PET or pathological studies consistent with PD. Pathological studies also demonstrated moderate numbers of neurofibrillary tangles and plaque formation, typically with sparing of motor neurons in the spinal cord. We conclude that neurodegenerative 'overlap' syndrome may represent forme frustes of traditionally accepted diagnostic categories. Patients with parkinsonism, fasciculations, hyperreflexia and mild atrophy are unlikely to demonstrate active denervation on EMG; their prognosis is better than for classical MND. Neurodegenerative overlap syndrome (clinicopathological mixtures of PD, AD, and MND) may develop in some individuals as a reflection of common etiology, pathogenesis or susceptibility.

  5. Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome.

    Science.gov (United States)

    Sztriha, László; Guerrini, Renzo; Harding, Brian; Stewart, Fiona; Chelloug, Nora; Johansen, Johan G

    2004-06-15

    Polymicrogyria is a brain malformation due to abnormal cortical organization. Two histological types, unlayered or four-layered can be distinguished. Polymicrogyria is a rare manifestation of chromosome 22q11 deletion syndrome. We report two boys with chromosome 22q11 deletion syndrome and polymicrogyria, and describe the neuropathological features of the malformation in one of them. Clinical examinations, EEG, brain MRI, chromosomal analysis with FISH, and neuropathological studies of surgically resected cortical tissue were performed. Both patients showed severe developmental delay with cardiovascular malformations and one of them had drug resistant epilepsy. Polymicrogyria was found in the frontal, parietal, and temporal areas, unilaterally in one patient and bilaterally in the other. Histology revealed four-layered polymicrogyria. The pathogenesis of polymicrogyria in 22q11 deletion syndrome is discussed. Copyright 2004 Wiley-Liss, Inc.

  6. Clinical features and management of hereditary spastic paraplegia.

    Science.gov (United States)

    Faber, Ingrid; Servelhere, Katiane R; Martinez, Alberto R M; D'Abreu, Anelyssa; Lopes-Cendes, Iscia; França-Jr, Marcondes C

    2014-03-01

    Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions.

  7. Clinical features and management of hereditary spastic paraplegia

    Directory of Open Access Journals (Sweden)

    Ingrid Faber

    2014-03-01

    Full Text Available Hereditary spastic paraplegia (HSP is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions.

  8. Catatonia as presenting clinical feature of subacute sclerosing panencephalitis.

    Science.gov (United States)

    Dayal, Prabhoo; Balhara, Yatan Pal Singh

    2014-01-01

    Catatonia is not a usual clinical presentation of subacute sclerosing panencephalitis (SSPE), especially in the initial stages of illness. However, there is only one reported case of SSPE presenting as catatonia among children. In this report, however, there were SSPE-specific changes on EEG and the catatonia failed to respond to lorazepam. We describe a case of SSPE in a child presenting as catatonia that presented with clinical features of catatonia and did not have typical EEG findings when assessed at first contact. He responded to lorazepam and EEG changes emerged during the course of follow-up.

  9. Neurofibromatosis: Evaluation of Clinical Features of 11 Cases

    Directory of Open Access Journals (Sweden)

    Gülşen Akoğlu

    2013-12-01

    Full Text Available Objective: Neurofibromatosis (NF is one of the most commonly seen autosomal dominantly inherited neurocutaneous syndromes. The most common subtypes are NF1 and NF2. The clinical course of NF may be heterogeneous.In this study, clinical features of patients with NF and its rare manifestations were described. Methods: Records of 11 patients with NF diagnosed between May 2008 and August 2011 were retrospectively reviewed. Demographic and clinical features of patients were detailed. Results: Six female and 5 male patients were enrolled. Patients' ages ranged between 1.5 and 58 years. Seven of them had positive family history for NF. A 1.5-year-old baby presented early appearance of Lisch nodules. One female patient had unilateral segmentally distributed pigmentary macules with bilateral Lisch nodules. Severe scoliosis and multiple painful neurofibromas were observed in a male patient. An asymptomatic arachnoid cyst was detected incidentally in a female patient. A male patient with NF1 had diffuse large B cell lymphoma and glioblastoma multiforme. Conclusion: Patients with NF may present with diverse clinical manifestations. Since patients may first apply to a dermatology outpatient clinic with only cutaneous complaints, early diagnosis of NF both in the patients and in their first degree relatives by careful dermatological and ophthalmological examinations and radiological evaluations can be possible.

  10. [Clinical features and comorbidities of Asperger syndrome in children].

    Science.gov (United States)

    Fu, Xiao-Yan; Xie, Xiao-Tian; Mei, Zhu; Cheng, Wen-Hong

    2013-09-01

    To investigate and summarize the clinical features and comorbidities of Asperger syndrome (AS) in children and to provide a theoretical basis for improving the understanding and diagnosis of AS. Inquiry of medical history, physical examination, behavioral observation, psychiatric examination, questionnaire survey, and the Wechsler Intelligence Scale were used to summarize and analyse the clinical data of 95 children with AS, including chief complaint, symptoms, perinatal and familial conditions, family genetic history, and common comorbidities. AS was more common in male children, with hyperactivity, inattention, and social withdrawal as frequent chief complaints. The main clinical manifestations included poor communication skills (95%), restricted interest (82%), repetitive and stereotyped patterns of behavior (77%), semantic comprehension deficit (74%), and indiscipline (68%). Verbal IQ was higher than performance IQ in most patients. The comorbidities of AS included attention deficit hyperactivity disorder (ADHD) (39%), emotional disorder (18%), and schizophrenia (2%); emotional disorder was more common in patients aged 13-16 years, while ADHD was more common in patients aged 7-16 years. Among these patients, 61% had fathers with introverted personality, 43% had mothers with introverted personality, and 19% had a family history of mental illness. AS has specific clinical manifestations. It is essential to know more about the clinical features and comorbidities of AS, which is helpful for early identification and diagnosis of AS.

  11. Clinical and psychopathological features of depressions with panic attacks

    Directory of Open Access Journals (Sweden)

    N. N. Ivanets

    2017-01-01

    Full Text Available Objective: to study the clinical and psychopathological features of depressions with panic attacks.Patients and methods. A total of 100 in- and outpatients aged 18 to 60 years, who had been treated in the S.S. Korsakov Clinic of Psychiatry for mild and moderate depression with panic attacks, were clinically examined using the psychometric scales: the Montgomery–Asberg Depression Rating Scale, the Atypical Depression Diagnostic Scale, and the Sheehan Clinical Anxiety Rating Scale.Results. The clinical and psychopathological picture of depression with panic attacks differed significantly in three identified groups of patients with neurotic depression (ND, recurrent depressive disorder (RDD, and bipolar affective disorder (BAD. NDs with panic attacks were characterized by insignificant short-term symptoms of dreariness, indistinct anhedonia with the maximum manifestation of personality sensitivity, and a tendency to alcohol abuse. DDRs with panic attacks were inherent in melancholic and dreary symptoms, anhedonia, classical circadian mood fluctuations, and the most marked reactivity of mood. Depressions with panic attacks within BAD were typical of apathetic manifestations, hypersomnia, hyperphagia, and alcohol craving.Conclusion. Depressions with panic attacks have psychopathological features depending on whether they develop within ND, RDR, or BAD.

  12. Features of the Clinical Course of Adrenal Incidentalomas

    Directory of Open Access Journals (Sweden)

    G.A. Alimukhamedova

    2014-04-01

    Full Text Available The objective of the study was to examine the clinical features of adrenal incidentalomas. 98 clinical observations of patients with adrenal incidentalomas receiving in- and out-patient treatment in the clinic of Republican Specialized Scientific and Practical Medical Centre of Endocrinology of Ministry of Healthcare of Republic of Uzbekistan were analyzed. Of them, 51 % — males, 49 % — females. General clinical observation included: thorough gaining of complaints; anamnesis morbi and vitae; assessment of somatic and endocrine statuses; clinical examination with measurement of blood pressure and body mass index; urinalysis; biochemical blood analysis. In addition, all patients underwent complete blood count with determination of blood potassium, sodium, chlorine, lipid profile, fasting blood glucose and oral glucose tolerance test, creatinine and urea; hormonal blood tests, including studies of plasma aldosterone and plasma renin activity in a horizontal position, adrenocorticotropic hormone, blood cortisol, as well as the daily excretion of catecholamines with urine. For topical diagnosis we used ultrasound, CT of adrenals. It was found that adrenal incidentalomas were detected in 37.8 % as a result of searching for the reason of arterial hypertension, in 23.5 % — of obesity and hypothalamus dysfunction, in 14.2 % — in abdominal pathology, in 12.2 % — of non-specific complaints, in 8.1 % — in exclusion of adrenal diseases, and in 4 % — in clinical supervision. Clinically they are characterized with nonspecific features with predominance of arterial hypertension (76.5 %, which is associated with adrenal pathology only 18.4 % of cases. Analysis of metabolic disorders revealed clinically significant changes as well. Of 98 examined patients, 70 % had metabolic disorders.

  13. Wilms's tumour and aniridia: clinical and cytogenetic features.

    OpenAIRE

    Shannon, R S; Mann, J R; Harper, E; Harnden, D. G.; Morten, J E; Herbert, A.

    1982-01-01

    A survey carried out to detect children with aniridia/Wilms's tumour syndrome identified 8 living and 3 dead children. The incidence of aniridia was found to be 1 in 43 among Wilms's tumour patients in the UK. The clinical features included complete bilaterial aniridia, cataracts, glaucoma, mental retardation, hyperkinesis, hypospadias, and undescended testes. A high incidence of bilateral tumours (36%), male sex, presentation at a young age, and advanced maternal age appeared to be associate...

  14. Analysis of clinical features of five multiple sclerosis patients with positive serum aquaporin 4 antibody

    Directory of Open Access Journals (Sweden)

    Yang HE

    2015-03-01

    Full Text Available Objective To investigate the clinical features of multiple sclerosis (MS patients with positive serum aquaporin 4 (AQP4 antibody.  Methods A total of 18 MS patients who had been diagnosed in accord with McDonald Criteria (2010 were enrolled and were divided into AQP4 positive group (N = 5 and AQP4 negative group (N = 13. In combination with accessory examination, clinical features and laboratory data of MS patients were correlatively studied between 2 groups in association with follow-up study in Outpatient Clinic.  Results Five seropositive patients, including 2 men and 3 women, were collected. The median age of onset was 43 years and the median clinical course was 4 months. Compared with patients with negative AQP4 antibody, MS patients with positive AQP4 antibody demonstrated increased spinal cord lesions and optic nerve involvement. MRI revealed multiple abnormal long T1 and long T2 signals in brain and cervicothoracic spinal cord (3/5, and multiple  abnormal long T1 and long T2 signals in cervicothoracic spinal cord (2/5 in seropositive group. Relatively more patients in seropositive group had increased cerebral spinal fluid (CSF IgG index (4/4 and 24 h intrathecal IgG synthesis rate (3/4, and positive oligoclonal bands (OBs, 3/4. Two patients presented with positive anti-nuclear antibody (ANA and one Sjögren's syndrome (SS in seropositive group.  Conclusions There were some differences in clinical features between AQP4 antibody positive MS and classical MS, suggesting distinctive pathogenesis may exist between these two entities, which need to be emphasized and treated accordingly from the diagnostic and therapeutic points of view. HE Yang and YANG Ting-ting contributed equally to this studyDOI: 10.3969/j.issn.1672-6731.2015.03.012

  15. Obesity and psoriatic arthritis: from pathogenesis to clinical outcome and management.

    Science.gov (United States)

    Russolillo, Anna; Iervolino, Salvatore; Peluso, Rosario; Lupoli, Roberta; Di Minno, Alessandro; Pappone, Nicola; Di Minno, Matteo Nicola Dario

    2013-01-01

    PsA is an axial and/or peripheral inflammatory arthritis associated with psoriasis, included in the group of spondylarthritides. It has been suggested that PsA could be a systemic disease, involving even coronary arteries and the heart. An increased prevalence of vascular risk factors has been found in PsA subjects as compared with the general population and psoriatic subjects. Moreover, PsA patients exhibit an increased prevalence of liver steatosis, a marker of metabolic syndrome, and of obesity. Interestingly, many reports demonstrate that adipose tissue is metabolically active, representing a source of inflammatory mediators, known as adipokines. The latter include TNF-α, macrophage chemoattractant protein-1, plasminogen activator inhibitor-1 (PAI-1), IL-6, leptin and adiponectin, leading to a pro-inflammatory status in obese subjects. This evidence supports the idea of obesity as a low-grade inflammatory disease. Accordingly, obesity might be associated with some rheumatic diseases. In particular, it seems to affect several features of PsA, such as its development, cardiovascular risk and clinical outcome. Recent data suggest that increased BMI in early adulthood increases the risk of PsA development in psoriatic patients, supporting a link between fat-mediated inflammation and joint involvement. Obesity may represent an additive cardio-metabolic risk factor in PsA subjects. Abdominal obesity may also determine an increased risk of not achieving minimal disease activity in PsA patients, highlighting the role of abdominal fat accumulation as a negative predictor of good clinical response to biologic agents. This review assesses the relationship between obesity and PsA according to the available literature.

  16. [Clinical features of early newborn infants with congenital heart disease].

    Science.gov (United States)

    Yu, Guoping; Mao, Liangyuan; Chen, Shaozhi

    2014-06-01

    To analyze the clinical feature of early newborn infants with congenital heart disease. We retrospectively analyzed the clinical features of 477 newborn infants with congenital heart disease born within seven days out of 28 050 live births in Shaoxing women and children hospital from October 1, 2009 to September 30, 2012. Infants with congenital heart disease were divided into single malformation group (240 cases), composite deformity group (199 cases) and multiple malformations group (38 cases). Differences of clinical feature were compared between the three groups. Atrial septal defect was the most malformation 91.6% (437/477) .Incidence of preterm birth was higher in newborn inants with congenital heart disease [512.23/10 000(134/2 616)] than infants without without congenital heart disease [134.86/10 000 (343/25 434) , P congenital heart disease groups was similar (P > 0.05) . The incidence of small for gestational age in congenital heart disease group (10.90%, 52/477) was also significantly higher than those without congenital heart disease group (5.91%, 1 630/27 573, P congenital heart disease of complex malformations, multiple malformations groups was higher than that in the single malformation group (P congenital heart disease. The incidence of preterm is higher in newborn infants with congenital heart disease. Complex and multiple malformations are linked with small for gestational age birth weight.

  17. Spinal cord ischemia: aetiology, clinical syndromes and imaging features

    Energy Technology Data Exchange (ETDEWEB)

    Weidauer, Stefan [Frankfurt Univ., Sankt Katharinen Hospital Teaching Hospital, Frankfurt am Main (Germany). Dept. of Neurology; Hattingen, Elke; Berkefeld, Joachim [Frankfurt Univ., Frankfurt am Main (Germany). Inst. of Neuroradiology; Nichtweiss, Michael

    2015-03-01

    The purpose of this study was to analyse MR imaging features and lesion patterns as defined by compromised vascular territories, correlating them to different clinical syndromes and aetiological aspects. In a 19.8-year period, clinical records and magnetic resonance imaging (MRI) features of 55 consecutive patients suffering from spinal cord ischemia were evaluated. Aetiologies of infarcts were arteriosclerosis of the aorta and vertebral arteries (23.6 %), aortic surgery or interventional aneurysm repair (11 %) and aortic and vertebral artery dissection (11 %), and in 23.6 %, aetiology remained unclear. Infarcts occurred in 38.2 % at the cervical and thoracic level, respectively, and 49 % of patients suffered from centromedullar syndrome caused by anterior spinal artery ischemia. MRI disclosed hyperintense pencil-like lesion pattern on T2WI in 98.2 %, cord swelling in 40 %, enhancement on post-contrast T1WI in 42.9 % and always hyperintense signal on diffusion-weighted imaging (DWI) when acquired. The most common clinical feature in spinal cord ischemia is a centromedullar syndrome, and in contrast to anterior spinal artery ischemia, infarcts in the posterior spinal artery territory are rare. The exclusively cervical location of the spinal sulcal artery syndrome seems to be a likely consequence of anterior spinal artery duplication which is observed preferentially here. (orig.)

  18. Prevalence and Clinical Features of Atopic Dermatitis in China

    Directory of Open Access Journals (Sweden)

    Xin Wang

    2016-01-01

    Full Text Available Background. The epidemiology of atopic dermatitis (AD in Chinese outpatients is yet to be clarified. Objectives. To investigate population-based prevalence and clinical features of AD in Chinese outpatients. Methods. A multicenter cross-sectional study was conducted in outpatients with eczema or dermatitis from 39 tertiary hospitals in 15 provinces. Results. This study included 682 patients diagnosed with AD, with the mean age of 28.8±20.1 years and the median course of 5.3±6.9 years. AD patients had more severe itching (30.4% versus 13.8%, p<0.001 and clinically suspected bacterial infection (21.7% versus 16.1%, p<0.001 than those of other types of dermatitis. Older patients were more susceptible to have a history of flexion dermatitis (p<0.001, bacterial infection (p=0.005, and severe itching (p<0.001. Outpatients with clinically suspected bacterial infection had 3.53-fold increased risk of AD than those without it (p<0.001. The morbidity rate of AD in the (20–25°N region is 2.86 times higher than that in the (40–45°N region [OR (95% CI: 0.352 (0.241–0.514, p<0.001]. Conclusions. AD is characterized by unique clinical/demographic features. Bacterial infection and latitude region may have an impact on the incidence of AD in China.

  19. Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders.

    Science.gov (United States)

    Ng, J; Heales, S J R; Kurian, M A

    2014-08-01

    Childhood neurotransmitter disorders are increasingly recognised as an expanding group of inherited neurometabolic syndromes. They are caused by disturbance in synthesis, metabolism, and homeostasis of the monoamine neurotransmitters, including the catecholamines (dopamine, norepinephrine, and epinephrine) and serotonin. Disturbances in monoamine neurotransmission will lead to neurological symptoms that often overlap with clinical features of other childhood neurological disorders (such as hypoxic ischaemic encephalopathy, cerebral palsy, other movement disorders, and paroxysmal conditions); consequently, neurotransmitter disorders are frequently misdiagnosed. The diagnosis of neurotransmitter disorders is made through detailed clinical assessment, analysis of cerebrospinal fluid neurotransmitters, and further supportive diagnostic investigations. Early and accurate diagnosis of neurotransmitter disorders is important, as many are amenable to therapeutic intervention. The principles of treatment for monoamine neurotransmitter disorders are mainly directly derived from understanding these metabolic pathways. In disorders characterized by enzyme deficiency, we aim to increase monoamine substrate availability, boost enzyme co-factor levels, reduce monoamine breakdown, and replace depleted levels of monoamines with pharmacological analogs as clinically indicated. Most monoamine neurotransmitter disorders lead to reduced levels of central dopamine and/or serotonin. Complete amelioration of motor symptoms is achievable in some disorders, such as Segawa's syndrome, and, in other conditions, significant improvement in quality of life can be attained with pharmacotherapy. In this review, we provide an overview of the clinical features and current treatment strategies for childhood monoamine neurotransmitter disorders.

  20. Prevalence and clinical features of pigmented oral lesions.

    Science.gov (United States)

    Hassona, Yazan; Sawair, Faleh; Al-Karadsheh, Omar; Scully, Crispian

    2016-09-01

    To examine the relative prevalence, types, and clinical features of pigmented lesions of the oral mucosa in 1275 patients attending a university hospital for dental care. Patients attending dental clinics at The University of Jordan Hospital over a 1-year period were examined for the presence of oral pigmentations. Histopathological examination was performed on focally pigmented lesions with a suspicious or uncertain clinical diagnosis. A total of 386 (30.2%) patients were found to have oral pigmentations. Of these, racial pigmentation (39.9%) and smokers' melanosis (32.9%) were the most common causes of oral pigmentations. Other causes included amalgam tattoo (18.9%), focal melanotic macules (5.7%), postinflammatory pigmentation (1.6%), pigmentation due to medications or systemic disease (0.52%), heavy metal deposits (0.26%), and oral nevus (0.26%). Gingivae and buccal mucosae were the most common sites for oral pigmentations. Pigmentations of the oral mucosa are common. Gingivae and buccal mucosae are the most common sites for oral pigmentations. Proper history and recognition of clinical features are important for effective management. © 2015 The International Society of Dermatology.

  1. Lymphocytic Panhypophysitis: Its Clinical Features in Japanese Cases

    Directory of Open Access Journals (Sweden)

    Yoshiharu Wada

    2011-01-01

    Full Text Available Lymphocytic hypophysitis is divided into three forms according to the involved tissues, lymphocytic adenohypophysitis, lymphocytic infundibulo-neurohypophysitis, and lymphocytic panhypophysitis (LPH. The term LPH was first proposed by us in 1995, although its entity and pathogenesis still remain controversial. Here we report five cases of LPH, who visited our clinics during 1994 to 2009. All cases were female of 20 to 77 years of age, and one case was associated with pregnancy. They presented with polyuria (n = 4, headache (n = 3, general malaise, polydipsia (n = 2, blunted vision, diplopia, amenorrhea or appetite loss (n = 1. Magnetic resonance imaging showed the pituitary swelling, the thickened stalk, the loss of the T1 hyperintense neurohypophysis (n = 4, or the atrophic pituitary (n = 1. Endocrinological examinations revealed deficiencies of TSH, ADH in all cases, GH, ACTH in three cases, LH, PRL in two cases, and FSH in one case, respectively. The severity of ADH deficiency varied among the cases. Anti-pituitary antibody was not detected in the cases examined. The biopsy of the pituitary lesions was performed except for one case, all of which revealed the diffuse lymphocytic infiltration. These results suggest that LPH is characterized by the female predominance, the atypical patterns of anterior pituitary hormone deficiencies and the variable degrees of diabetes insipidus in Japanese.

  2. [Oxidative stress, rRNA genes, and antioxidant enzymes in pathogenesis of schizophrenia and autism: modeling and clinical advices].

    Science.gov (United States)

    Porokhovnik, L N; Pasekov, V P; Egolina, N A; Tsvetkova, T G; Kosiakova, N V; Gorbachevskaia, N L; Sukhotina, N K; Kozlovskaia, G V; Sorokin, A B; Korovina, N Iu; Liapunova, N A

    2013-01-01

    Ribosomal genes (RG), or genes for rRNA, are represented by multiple tandem repeats in eukaryotic genomes, and just a part of them is transcriptionally active. The quantity of active copies is a stable genome feature which determines the cell's capability for rapid synthesis of proteins, necessary to cope with stress conditions. Low number of active RG copies leads to reduced stress resistance and elevated risk of multifactorial disorders (MFD). Oxidative stress (OS) in the brain cells is believed to be involved in the pathogenesis of infantile autism (IA) and schizophrenia, i.e., MFDs with a manifested genetic predisposition. With autism, OS markers are found almost in every research, whilst with schizophrenia, the OS data are contradictory. Earlier, in a sample of patients with schizophrenia, we have found significantly higher quantity of active RG copies than at the average in healthy population. Here we have estimated the number of active RG copies in a sample of patients with IA (n = 51) and revealed significantly lower mean value than in healthy population. A novel mathematical model of the dynamic pattern of OS has been proposed. The model is realized as an ordinary differential equation system, supposing induction of antioxidant protection enzymes being mediated by reactive oxygen species (ROS), with the subsequent decrease of ROS content in a cell. The rate of synthesis of antioxidant protection enzymes is limited by the ribosome synthesis rate which depends on the number of active RG copies. Analysis of the model showed that the system always approaches a single stable equilibrium point along a damped oscillation trajectory, which in some degree resembles the dynamics of 'predator-prey' interaction in Lotka-Volterra model. The stationary ROS level inversely depends on the number of active RG copies. Our study explains the inconsistency of clinical data of OS in schizophrenia and suggests a novel criterion for discriminative cytogenetic diagnostics of

  3. Clinical features and course of ocular toxocariasis in adults.

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    Seong Joon Ahn

    2014-06-01

    Full Text Available PURPOSE: To investigate the clinical features, clinical course of granuloma, serologic findings, treatment outcome, and probable infection sources in adult patients with ocular toxocariasis (OT. METHODS: In this retrospective cohort study, we examined 101 adult patients diagnosed clinically and serologically with OT. Serial fundus photographs and spectral domain optical coherence tomography images of all the patients were reviewed. A clinic-based case-control study on pet ownership, occupation, and raw meat ingestion history was performed to investigate the possible infection sources. RESULTS: Among the patients diagnosed clinically and serologically with OT, 69.6% showed elevated immunoglobulin E (IgE levels. Granuloma in OT involved all retinal layers and several vitreoretinal comorbidities were noted depending on the location of granuloma: posterior pole granuloma was associated with epiretinal membrane and retinal nerve fiber layer defects, whereas peripheral granuloma was associated with vitreous opacity. Intraocular migration of granuloma was observed in 15 of 93 patients (16.1%. Treatment with albendazole (400 mg twice a day for 2 weeks and corticosteroids (oral prednisolone; 0.5-1 mg/kg/day resulted in comparable outcomes to patients on corticosteroid monotherapy; however, the 6-month recurrence rate in patients treated with combined therapy (17.4% was significantly lower than that in patients treated with corticosteroid monotherapy (54.5%, P=0.045. Ingestion of raw cow liver (80.8% or meat (71.2% was significantly more common in OT patients than healthy controls. CONCLUSIONS: Our study discusses the diagnosis, treatment, and prevention strategies for OT. Evaluation of total IgE, in addition to anti-toxocara antibody, can assist in the serologic diagnosis of OT. Combined albendazole and corticosteroid therapy may reduce intraocular inflammation and recurrence. Migrating feature of granuloma is clinically important and may further suggest

  4. Clinical features of otolith organ-specific vestibular dysfunction.

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    Fujimoto, Chisato; Suzuki, Sayaka; Kinoshita, Makoto; Egami, Naoya; Sugasawa, Keiko; Iwasaki, Shinichi

    2018-01-01

    To elucidate the clinical features and vestibular symptoms of patients with otolith organ dysfunction in the presence of normal function of the semicircular canals. We reviewed the clinical records of 277 consecutive new patients with balance disorders who underwent testing of cervical and ocular vestibular evoked myogenic potentials (cVEMPs and oVEMPs) as well as caloric testing and video head impulse testing (vHIT). We identified 76 patients who showed normal caloric responses and normal vHIT findings in each SCC plane, but abnormal responses in cVEMP and/or oVEMP testing. Benign paroxysmal positional vertigo (BPPV) was the most common diagnosis. 37% of patients could not be categorized into any of the established clinical entities that could cause a balance disorder and did not show sensorineural hearing loss. The most common clinical manifestation in the idiopathic cases was recurrent rotatory vertigo with a duration of 1-12 h. The most common diagnosis of otolith organ-specific vestibular dysfunction was BPPV. The most common clinical manifestation in the idiopathic cases was recurrent rotatory vertigo. Specific dysfunction of the otolith organs occurs in association with some of the undiagnosed patients with recurrent rotatory vertigo. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  5. Clinical features of avian vacuolar myelinopathy in American coots

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    Larsen, R.S.; Nutter, F.B.; Augspurger, T.; Rocke, T.E.; Tomlinson, L.; Thomas, N.J.; Stoskopf, M.K.

    2002-01-01

    Objectivea??To characterize clinical features of avian vacuolar myelinopathy (AVM) in American coots. Designa??Case-control study. Animalsa??26 AVM-affected American coots and 12 unaffected coots. Proceduresa??Complete physical, neurologic, hematologic, and plasma biochemical evaluations were performed. Affected coots received supportive care. All coots died or were euthanatized, and AVM status was confirmed via histopathologic findings. Resultsa??3 severely affected coots were euthanatized immediately after examination. Seventeen affected coots were found dead within 7 days of admission, but 5 affected coots survived > 21 days and had signs of clinical recovery. Abnormal physical examination findings appeared to be related to general debilitation. Ataxia (88%), decreased withdrawal reflexes (88%), proprioceptive deficits (81%), decreased vent responses (69%), beak or tongue weakness (42%), and head tremors (31%), as well as absent pupillary light responses (46%), anisocoria (15%), apparent blindness (4%), nystagmus (4%), and strabismus (4%) were detected. Few gross abnormalities were detected at necropsy, but histologically, all AVM-affected coots had severe vacuolation of white matter of the brain. None of the control coots had vacuolation. Conclusions and Clinical Relevancea??Although there was considerable variability in form and severity of clinical neurologic abnormalities, clinical signs common in AVM-affected birds were identified. Clinical recovery of some AVM-affected coots can occur when supportive care is administered. Until the etiology is identified, caution should be exercised when rehabilitating and releasing coots thought to be affected by AVM.

  6. STEVENS-JOHNSON SYNDROME — TOXIC EPIDERMAL NECTROLYSIS IN CHILDREN. PART I. DETERMINATION, ETIOLOGY, PATHOGENESIS, CLINICAL MANIFESTATIONS, SYSTEMIC TREATMENT

    Directory of Open Access Journals (Sweden)

    V.F. Zhernosek

    2011-01-01

    Full Text Available Part I of the literature review provides modern terminology and classification of Stevens-Johnson syndrome (SJS and toxic epidermal necrolysis (TEN, which is now considered different ways of treating the single pathological process induced in children by infections, drugs, malignant and autoimmune diseases. It illustrates in detail the latest data on pathogenesis, describes clinical manifestations of both scenarios and their transition forms. Special emphasis is made on the organisation of care for patients with SJS and TEN. It details various aspects of systemic therapy.Key words: Stevens-Johnson syndrome, toxic epidermal necrolysis, systemic treatment, children.

  7. Malignant melanoma of sun-protected sites: a review of clinical, histological, and molecular features.

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    Merkel, Emily A; Gerami, Pedram

    2017-06-01

    In most cases of cutaneous melanoma, ultraviolet (UV) radiation is recognized as a prominent risk factor. Less is known regarding the mechanisms of mutagenesis for melanoma arising in sun-protected sites, such as acral and mucosal melanoma. Acral and mucosal melanoma share many common features, including a late age of onset, a broad radial growth phase with prominent lentiginous growth, the presence of field cancerization cells, and, in most cases, lack of a precursor nevus. In addition to early chromosomal instability, many of the same genes are also involved in these two distinct melanoma subtypes. To better understand non-UV-mediated pathogenesis in melanoma, we conducted a joint literature review of clinical, histological, and molecular features in acral and mucosal melanoma. We also reviewed the current literature regarding aberrations in KIT, PDGFRA, TERT, and other commonly involved genes. By comparing common features of these two subtypes, we suggest potential mechanisms underlying acral and/or mucosal melanoma and offer direction for future investigations.

  8. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.

    Science.gov (United States)

    Kumaran, Neruban; Moore, Anthony T; Weleber, Richard G; Michaelides, Michel

    2017-09-01

    Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms. The vast genetic heterogeneity of inherited retinal disease has been established over the last 10 - 20 years, with disease-causing variants identified in 25 genes to date associated with LCA/EOSRD, accounting for 70-80% of cases, with thereby more genes yet to be identified. There is now far greater understanding of the structural and functional associations seen in the various LCA/EOSRD genotypes. Subsequent development/characterisation of LCA/EOSRD animal models has shed light on the underlying pathogenesis and allowed the demonstration of successful rescue with gene replacement therapy and pharmacological intervention in multiple models. These advancements have culminated in more than 12 completed, ongoing and anticipated phase I/II and phase III gene therapy and pharmacological human clinical trials. This review describes the clinical and genetic characteristics of LCA/EOSRD and the differential diagnoses to be considered. We discuss in further detail the diagnostic clinical features, pathophysiology, animal models and human treatment studies and trials, in the more common genetic subtypes and/or those closest to intervention. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  9. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

    Science.gov (United States)

    Kumaran, Neruban; Moore, Anthony T; Weleber, Richard G; Michaelides, Michel

    2017-01-01

    Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms. The vast genetic heterogeneity of inherited retinal disease has been established over the last 10 - 20 years, with disease-causing variants identified in 25 genes to date associated with LCA/EOSRD, accounting for 70–80% of cases, with thereby more genes yet to be identified. There is now far greater understanding of the structural and functional associations seen in the various LCA/EOSRD genotypes. Subsequent development/characterisation of LCA/EOSRD animal models has shed light on the underlying pathogenesis and allowed the demonstration of successful rescue with gene replacement therapy and pharmacological intervention in multiple models. These advancements have culminated in more than 12 completed, ongoing and anticipated phase I/II and phase III gene therapy and pharmacological human clinical trials. This review describes the clinical and genetic characteristics of LCA/EOSRD and the differential diagnoses to be considered. We discuss in further detail the diagnostic clinical features, pathophysiology, animal models and human treatment studies and trials, in the more common genetic subtypes and/or those closest to intervention. PMID:28689169

  10. Overlapping Clinical Features Between NAFLD and Metabolic Syndrome in Children

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    Anna Alisi

    2014-05-01

    Full Text Available Non-alcoholic fatty liver disease (NAFLD is a cluster of pathological liver conditions of emerging importance in overweight and obese children. NAFLD is associated with central obesity, insulin resistance, and dyslipidaemia, which are considered to be the main features of metabolic syndrome (MetS. Prevention of the adverse outcomes of NAFLD, as well as the risk of MetS, depends on the identification of genetic background and environmental factors that modulate susceptibility to these diseases. However, several lines of evidence highlight the strong correlation and co-currency of these two chronic diseases, both in children and in adults. In the present review, we provide an overview of the current clinical proofs on the link between NAFLD and MetS in children, with particular focus on all the possible overlapping features that connect them at paediatric age.

  11. [The post-traumatic embitterment disorder: clinical features].

    Science.gov (United States)

    Belaise, Carlotta; Bernhard, Letizia Maria; Linden, Michael

    2012-01-01

    In the last decade, post-traumatic embitterment disorder (PTED) has been internationally recognised as a specific form of adjustment disorder which arises after severe and negative, but not life threatening, life events (conflicts at work, unemployment, death of a relative, divorce, severe illness). More recent research on its specific symptomatologic features, its chronic course, and the difficulties of treatment, have lead to the definition of distinct diagnostic criteria for PTED. The aim of this paper is to describe its main clinical features for both diagnostic and therapeutic purposes. The literature that is available allows to define specific psychopathological symptoms and etiology, and to distinguish PTED from post-traumatic stress, adjustment disorders and irritable mood. PTED is a disorder with a specific psychopathological framework. The introduction of PTED in the diagnostic manuals of mental disorders would be of help to better diagnose the spectrum of disorders following negative life events.

  12. Mastitis in Ettawa Crossbred Goat (Pe Caused by Staphylococcus Aureus: Epidemiology, Clinical Signs, Pathogenesis, Diagnosis and Control

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    Widodo Suwito

    2016-02-01

    Full Text Available Mastitis in Ettawa crossbred goat is commonly found and caused economic loss. Staphylococcus aureus is one of bacteria caused clinical mastitis or subclinical mastitis in Ettawa crossbred goat. The aim of this review was to provide an overview of clinical and subclinical mastitis in the Ettawa crossbred goat caused by S. aureus from epidemiological aspect, clinical symptoms, pathogenesis, diagnosis, treatment, prevention and control. Mastitis should be eliminated because it lead to death for the goats and lambs. In addition, S. aureus has greater risk for contamination in milk because it produces heat-stable toxin. Isolation and identification bacteria with total of somatic cell counts are important as a reference to determine the actions to decrease the occurrence of mastitis. Some preventive measures for mastitis include clean milking, dipping the teats with a disinfectant and antibiotic treatment during dry lactation.

  13. [Clinical features and outcomes of patients with Hashimoto's encephalopathy].

    Science.gov (United States)

    Tang, Yi; Xing, Yi; Zhang, Jin; Jia, Jianping

    2014-03-11

    As an ill-defined syndrome consisting of heterogeneous neurological symptoms and high serum antithyroid antibody titers, Hashimoto's encephalopathy typically responds to steroids. More serial clinical studies are required to characterize the clinical, laboratory and imaging features and outcomes. We analyzed retrospectively the clinical, laboratory, and imaging features and outcomes of 15 consecutive patients with Hashimoto's encephalopathy diagnosed at our hospital from 2005 to 2011. Cognitive impairment (11/15) and psychiatric symptoms (5/15) were the most frequent manifestations. Seizure (4/15) and myoclonus (1/15) were less common than previously described. Three (3/15) patients showed abnormal signals in hippocampus or temporal lobe related to memory disorders. Among 10 patients on steroid therapy, there were recovery (n = 5), improvement with residual deficits (n = 2) and relapse or no effect (n = 3). Among 5 patients on non-steroid, there were stable remission with antiepileptic drugs or general neurotrophic therapy (n = 3) and continuous deterioration (n = 2). Most patients respond well to steroids while someone improves without steroid therapy. In light of its reversible course, we recommend that Hashimoto's encephalopathy should always be considered in the differential diagnosis while evaluating disorders of central nervous system, even disorders those without manifestations of encephalopathy.

  14. Clinical Features of Pulmonary Sarcoidosis Complicated by Lung Cancer.

    Science.gov (United States)

    Iijima, Yuki; Sugiyama, Yukihiko; Sawahata, Michiru; Nakayama, Masayuki; Bando, Masashi

    2017-01-01

    Objective For lung cancer complicated with sarcoidosis, there are no exact features that indicate whether lymphadenopathy is metastatic. This makes the validity of surgery uncertain for clinicians. The aim of this study was to clarify the clinical features of pulmonary sarcoidosis complicated by lung cancer, especially from the viewpoint of evaluating lymphadenopathy. Methods We retrospectively reviewed medical records from 2004 to 2013 at our institution, and 18 patients who were diagnosed with sarcoidosis and lung cancer were thus found to be eligible. We investigated the relationship between the clinical and pathological findings of their swollen lymph nodes. Results Of 18 patients, 11 conducted surgery, and the postoperative pathological evaluation of swollen lymph nodes was done in 8 of the patients. Postoperative N factor in all these patients was 0, even though lymphatic metastasis had been suspected preoperatively because of the unbalanced distribution of lymphadenopathy or the accumulation of fluorodeoxyglucose. Conclusion In patients with lung cancer complicated by sarcoidosis, the clinical assessment of the state of lymphadenopathy is difficult to make. However, as many of them tend to be benign, we suggest that surgical resection should be considered for a complete cure in the absence of any remote metastasis.

  15. Hemicrania Continua: Functional Imaging and Clinical Features With Diagnostic Implications.

    Science.gov (United States)

    Sahler, Kristen

    2013-04-10

    This review focuses on summarizing 2 pivotal articles in the clinical and pathophysiologic understanding of hemicrania continua (HC). The first article, a functional imaging project, identifies both the dorsal rostral pons (a region associated with the generation of migraines) and the posterior hypothalamus (a region associated with the generation of cluster and short-lasting unilateral neuralgiform headache with conjunctival injection and tearing [SUNCT]) as active during HC. The second article is a summary of the clinical features seen in a prospective cohort of HC patients that carry significant diagnostic implications. In particular, they identify a wider range of autonomic signs than what is currently included in the International Headache Society criteria (including an absence of autonomic signs in a small percentage of patients), a high frequency of migrainous features, and the presence of aggravation and/or restlessness during attacks. Wide variations in exacerbation length, frequency, pain description, and pain location (including side-switching pain) are also noted. Thus, a case is made for widening and modifying the clinical diagnostic criteria used to identify patients with HC. © 2013 American Headache Society.

  16. Clinical features of Crohn disease concomitant with ankylosing spondylitis

    Science.gov (United States)

    Liu, Song; Ding, Jie; Wang, Meng; Zhou, Wanqing; Feng, Min; Guan, Wenxian

    2016-01-01

    Abstract Extraintestinal manifestations (EIMs) cause increased morbidity and decreased quality of life in Crohn disease (CD). Ankylosing spondylitis (AS) belongs to EIMs. Very little is known on the clinical features of CD concomitant with AS. This study is to investigate the clinical features of CD patients with AS. We retrospectively collected all CD patients with AS in our hospital, and established a comparison group (CD without AS) with age, sex, and duration of Crohn disease matched. Clinical information was retrieved for comparison. Eight CD + AS patients were identified from 195 CD patients. Sixteen CD patients were randomly selected into comparison group. All CD + AS patients were male, HLA-B27 (+), and rheumatoid factor (−) with an average age of 40.8 ± 4.52 years. Significant correlation between disease activity of CD and AS was revealed (r = 0.857, P = 0.011). Significant correlation between disease activity of CD and functional limitation associated with AS was identified (r = 0.881, P Crohn disease activity index (CDAI), Bath AS disease activity index, and Bath AS functional index(BASFI) scores (r = 0.73–0.93, P Disease activity of CD correlates with disease activity of AS and functional limitation caused by AS. CRP, ESR, and Alb/Glo may serve as biomarkers for disease activity and functional limitation in CD patients concomitant with AS, although future studies are expected. PMID:27428240

  17. Clinical and microbiologic features of dacryocystitis-related orbital cellulitis.

    Science.gov (United States)

    Wladis, Edward J; Shinder, Roman; LeFebvre, Daniel R; Sokol, Jason A; Boyce, Michelle

    2016-10-01

    Dacryocystitis-related orbital cellulitis is a relatively rare condition, and large case series of this clinical entity have been reported. This study was undertaken to identify a larger cohort of patients with this ailment, with the intent of defining its clinical and microbiologic features. Case logs from four institutions were reviewed to identify patients that suffered from dacryocystitis-related orbital cellulitis. A retrospective chart review was then performed to identify clinical features, management strategies, microbiologic features, and outcomes. A dedicated statistical software package was utilized to identify correlations between these variables. 13 patients (7 females, 6 males; mean age = 57.2 years, range = 7-89 years) were identified. One patient carried a diagnosis of immunosuppressive disease. All patients underwent emergent surgical drainage and received intravenous antibiotics. Primary acquired nasolacrimal duct obstruction was found to be the underlying etiology in nine cases (69.2%), whereas four patients suffered from specific causes of their obstructions. An average of 1.07 organisms/patient (standard deviation = 0.49 organisms/patient) were recovered from microbiologic cultures, and Gram-positive bacteria represented the majority of cultured organisms. All patients experienced either stable or improved vision upon discharge. The relationships between a specific etiology and the possibility of vision loss or the number of organisms cultured, between the number of organisms cultured and vision loss, and immunosuppression and vision loss or the number of organisms cultured were all not statistically significant (p > 0.05). Dacryocystitis-related orbital cellulitis most commonly occurs in adult patients who do not carry immunosuppressive diagnoses and suffer from primary obstructions. Multiple microbiologic species may cause this problem, although Gram-positive organisms are most common. With appropriate management, stable or improved vision

  18. Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38).

    Science.gov (United States)

    Borroni, Barbara; Di Gregorio, Eleonora; Orsi, Laura; Vaula, Giovanna; Costanzi, Chiara; Tempia, Filippo; Mitro, Nico; Caruso, Donatella; Manes, Marta; Pinessi, Lorenzo; Padovani, Alessandro; Brusco, Alfredo; Boccone, Loredana

    2016-07-01

    SCA38 (MIM 611805) caused by mutations within the ELOVL5 gene, which encodes an enzyme involved in the synthesis of long-chain fatty acids with a high and specific expression in Purkinje cells, has recently been identified. The present study was aimed at describing the clinical and neuroimaging features, and the natural history of SCA38. We extended our clinical and brain neuroimaging data on SCA38 including 21 cases from three Italian families. All had the ELOVL5 c.689G > T (p.Gly230Val) missense mutation. Age at disease onset was in the fourth decade of life. The presenting features were nystagmus (100% of cases) and slowly progressive gait ataxia (95%). Frequent signs and symptoms included pes cavus (82%) and hyposmia (76%); rarer symptoms were hearing loss (33%) and anxiety disorder (33%). The disease progressed with cerebellar symptoms such as limb ataxia, dysarthria, dysphagia, and ophtalmoparesis followed in the later stages by ophtalmoplegia. Peripheral nervous system involvement was present in the last phase of disease with sensory loss. Dementia or extrapyramidal signs were not detected. Significant loss of abilities of daily living was reported only after 20 years of the disease. Brain imaging documented cerebellar atrophy with sparing of cerebral cortex and no white matter disease. SCA38 is a rare form of inherited ataxia with characteristic clinical features, including pes cavus and hyposmia, that may guide genetic screening and prompt diagnosis in light of possible future therapeutic interventions. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

  19. Clinical features of allergic rhinitis in children of Shanghai, China.

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    He, S; Li, Y J; Chen, J

    2016-05-09

    The aims of the current study were to assess the clinical features of allergic rhinitis (AR) in children in Shanghai. Serum-specific IgE (sIgE) tests were performed on samples from patients with AR symptoms from January 2011 to December 2014. A disease-related questionnaire was completed after AR diagnosis. The allergen profile and clinical features of AR were analyzed. In total, 2713 AR patients were enrolled in this study. Dermatophagoides pteronyssinus was found to be the most common offending allergen in the study population. With increasing age, the prevalence of sIgE against inhalant allergens was significantly increased; however, the opposite trend was observed for food allergens. Additionally, the proportion of children with high levels of sIgE against D. pteronyssinus increased with age. Of the AR cases, 8.6% were classified as intermittent mild, 4.2% as persistent mild, 40.5% as intermittent moderate-severe, and 46.7% as persistent moderate-severe. A family history of allergies and a patient history of allergies within 6 months of birth were significantly associated with the duration and severity of AR symptoms. The occurrence of co-morbidities, such as allergic conjunctivitis, cough, and asthma, gradually increased from intermittent mild, persistent mild, and intermittent moderate-severe to persistent moderate-severe. The most frequently used drugs were topical corticosteroids and oral antihistamines, which were used by 86.7 and 79.0% of patients, respectively. These results confirm the adequacy of the Allergic Rhinitis and its Impact on Asthma (ARIA) guidelines for classifying AR patients, and advance the understanding of clinical features of AR in children in Shanghai, China.

  20. Oxidative Stress and Erythrocyte Membrane Alterations in Children with Autism: Correlation with Clinical Features.

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    Alessandro Ghezzo

    Full Text Available It has been suggested that oxidative stress may play a role in the pathogenesis of Autism Spectrum Disorders (ASD, but the literature reports somewhat contradictory results. To further investigate the issue, we evaluated a high number of peripheral oxidative stress parameters, and some related issues such as erythrocyte membrane functional features and lipid composition. Twenty-one autistic children (Au aged 5 to 12 years, were gender and age-matched with 20 typically developing children (TD. Erythrocyte thiobarbituric acid reactive substances, urinary isoprostane and hexanoyl-lysine adduct levels were elevated in Au, thus confirming the occurrence of an imbalance of the redox status of Au, whilst other oxidative stress markers or associated parameters (urinary 8-oxo-dG, plasma radical absorbance capacity and carbonyl groups, erythrocyte superoxide dismutase and catalase activities were unchanged. A very significant reduction of Na(+/K(+-ATPase activity (-66%, p<0.0001, a reduction of erythrocyte membrane fluidity and alteration in erythrocyte fatty acid membrane profile (increase in monounsaturated fatty acids, decrease in EPA and DHA-ω3 with a consequent increase in ω6/ω3 ratio were found in Au compared to TD, without change in membrane sialic acid content. Some Au clinical features appear to be correlated with these findings; in particular, hyperactivity score appears to be related with some parameters of the lipidomic profile and membrane fluidity. Oxidative stress and erythrocyte membrane alterations may play a role in the pathogenesis of ASD and prompt the development of palliative therapeutic protocols. Moreover, the marked decrease in NKA could be potentially utilized as a peripheral biomarker of ASD.

  1. Clinical and Biological Features of Interval Colorectal Cancer.

    Science.gov (United States)

    Lee, Yu Mi; Huh, Kyu Chan

    2017-05-01

    Interval colorectal cancer (I-CRC) is defined as a CRC diagnosed within 60 months after a negative colonoscopy, taking into account that 5 years is the "mean sojourn time." It is important to prevent the development of interval cancer. The development of interval colon cancer is associated with female sex, old age, family history of CRC, comorbidities, diverticulosis, and the skill of the endoscopist. During carcinogenesis, sessile serrated adenomas/polyps (SSA/Ps) share many genomic and colonic site characteristics with I-CRCs. The clinical and biological features of I-CRC should be elucidated to prevent the development of interval colon cancer.

  2. Evaluating the clinical and demographic features of extrafacial granuloma faciale.

    Science.gov (United States)

    Mookadam, Martina; Mesinkovska, Natasha; Bridges, Alina G

    2017-07-01

    Granuloma faciale (GF) is an uncommon cutaneous disease of uncertain etiology that predominantly affects the face. Extrafacial lesions are rare. The purpose of this study was to describe the clinical and demographic features of a series of patients with extrafacial manifestations of GF who were diagnosed and treated at a single center over more than 5 decades. We performed a retrospective medical record analysis for all patients diagnosed with extrafacial GF who were treated at Mayo Clinic (Rochester, Minnesota) from 1959 through 2013. During the study period, extrafacial GF was diagnosed in 10 patients (6 men, 4 women), all of whom were white. The mean age was 58.7 years (range, 26-87 years). Seven patients presented with both facial and extrafacial lesions. Although extrafacial lesions are rare in GF, this condition should be included in the differential diagnosis of well-demarcated plaques and nodules found on the arms and legs.

  3. Clinical Features of Miller-Fisher Syndrome in Pregnancy

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    Masanori Ono

    2015-01-01

    Full Text Available Miller-Fisher syndrome (MFS is recognized as a variant of Guillain-Barré syndrome (GBS. MFS is a rare disorder that is characterized by the acute onset of ophthalmoplegia, ataxia, and areflexia/hyporeflexia. MFS has a higher incidence in Asia, where the incidence is estimated to be 18%–26% of GBS compared with 3%–5% in the West. The differential diagnosis of MFS includes Wernicke’s encephalopathy (WE which is characterized by a clinical triad (nystagmus and ophthalmoplegia, mental status changes, and ataxia, myasthenia gravis, and brainstem stroke. The association between MFS and pregnancy has not been reported previously. Here, we describe the clinical features of a pregnant woman in early pregnancy with MFS. This case highlights the fact that it is necessary to establish an accurate diagnosis based on the details from the patient’s history on appropriate complementary testing in a pregnant patient with MFS.

  4. Clinical features and natural history of ulcerative colitis in Korea.

    Science.gov (United States)

    Park, Sang Hyoung; Kim, Young Min; Yang, Suk-Kyun; Kim, Sai-Hui; Byeon, Jeong-Sik; Myung, Seung-Jae; Cho, Yun Kyung; Yu, Chang-Sik; Choi, Kwi-Sook; Chung, Jun-Won; Kim, Benjamin; Choi, Kee Don; Kim, Jin-Ho

    2007-03-01

    The clinical characteristics of ulcerative colitis (UC) in Asian populations have not been well characterized. We therefore investigated the clinical features and natural history of UC in Korea. We retrospectively analyzed 304 Korean patients with UC first diagnosed at the Asan Medical Center between June 1989 and August 2005. The male-to-female ratio of the patients was 0.94:1, and their median age at diagnosis was 40.0 years (range, 12-72 years). At diagnosis, proctitis was noted in 134 patients (44.1%), left-sided colitis in 69 patients (22.7%), and extensive colitis in 101 patients (33.2%). Disease activity at diagnosis was mild in 149 patients (49.0%), moderate in 125 patients (41.1%), and severe in 26 patients (8.6%). In addition, 4 asymptomatic patients (1.3%) were detected as a result of a screening colonoscopy. Clinical remission after the first attack was documented in 97.4% of patients. The cumulative relapse rate after 1, 5, and 10 years was 30.2%, 72.0%, and 88.4%, respectively. The cumulative risk of proximal extension in patients with proctitis or left-sided colitis was 33.0% after 5 years and 44.5% after 10 years. The cumulative probability of colectomy was 2.0% after 1 year, 2.8% after 3 years, and 3.3% after 5 to 15 years. The cumulative survival rate after 1, 5, and 10 years was 100%, 99.4%, and 97.4%, respectively. The clinical features of Korean UC patients at diagnosis are similar to those of Westerners. However, UC in Koreans may have a milder course than in Westerners, as indicated by the lower rate of colectomy among Koreans.

  5. [Risk factors and clinical features of ectopic pregnancy].

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    Escobar-Padilla, Beatriz; Perez-López, Carlos A; Martínez-Puon, Horacio

    2017-01-01

    Ectopic pregnancy (EP) is the most frequent cause of maternal death in the first trimester of pregnancy. The objective was to establish the clinical features and risk factors associated with EP. Observational, retrospective, transversal and analytic case-control study. Two groups were included: the cases group (28 patients) and the control group (56 postpartum patients). Univariate and bivariate descriptive statistical analysis were carried out using the Pearson chi-square test, p < 0.05, with odds ratios (OR) and 95% confidence intervals (95% CI). Statistically significant values (OR) were: smoking: 18.33, history of EP: 11.96, IUD use: 11.9, abdominal surgery: 5.87, being multigravid: 3.80, and having two or more sexual partners: 2. The most common clinical symptom was pelvic pain with 57.1% (16), right ruptured EP 53.6%, tubal pregnancy 82.1% (23), unruptured EP 60.7% (17), hemoperitoneum 60.7% (17). Gestational age for EP was of 4-8 weeks (75%) and surgical treatment 96.4%. The frequency of EP found in our population was 1 in every 122 live births. Risk factors associated with ectopic pregnancy with statistically higher values were: smoking, being multigravid, having a clinical record of EP, IUD use before conception, abdominal surgery. The more frequent clinical characteristics were pelvic pain, right EP, tubal pregnancy, EP with no ruptures, hemoperitoneum < 750 ml, a gestational age between four and eight weeks.

  6. [Clinical features of respiratory diseases in late preterm neonates].

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    Cui, Yun-Pu; Tong, Xiao-Mei; Han, Tong-Yan; Tang, Ya-Nan

    2012-01-01

    To evaluate the clinical features of respiratory diseases of late preterm neonates. Six hundred and thirty late preterm infant(gestational age: 34~36+6weeks),4401 cases of term infants and 328 early preterm infants who were born at the obstetrical department of Peking University 3rd Hospital from January 2009 to December 2010 were enrolled. Among them 84 late preterm infants, 135 term infants and 182 early preterm infants developed respiratory diseases. The incidence of respiratory diseases,clinical features and the severity of the diseases were compared among the three groups. The incidence and mortality rates of respiratory diseases and the percentage of severe cases were significantly higher in the late preterm group than in the term group, but lower than in the early preterm group (Parterial oxyhemoglobin saturation, systolic arterial pressure, 5 minute Apgar score and gestational age, and increased blood urea nitrogen, heart rate and respiratory rate. Late preterm infants are more likely to develop respiratory diseases than term infants, and to develop a more severe condition and need a more intensive respiratory support treatment. Tachypnea is a common presentation of dyspnea in late preterm infants and occurs earlier than in term infants but later than in early preterm infants. It may usually indicate a serious condition when dyspnea, abnormal heart rate and blood pressure, and multisystem damages occur in late preterm infants.

  7. Cockayne syndrome: Clinical features, model systems and pathways.

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    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne; Croteau, Deborah L; Bohr, Vilhelm A

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been ascribed to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility for molecular interventions in CS, and by extrapolation, possibly in aging. Published by Elsevier B.V.

  8. Clinical features and management of herb-induced aconitine poisoning.

    Science.gov (United States)

    Lin, Chih-Chuan; Chan, Thomas Y K; Deng, Jou-Fang

    2004-05-01

    We define the potential sources, clinical manifestations, and treatment of aconitine poisoning. The database of the National Poison Center in Taiwan was retrospectively searched for the diagnosis of aconitine poisoning for 1990 to 1999. The reasons for taking the aconite roots, the clinical features, management, and possible predisposing factors were noted. A total of 17 cases occurred and consisted of 9 men and 8 women aged 30 to 70 years. Thirteen patients ingested aconite roots as treatment for rheumatism and wounds. Two patients volunteered to test the effects of aconite roots in a drug study. Two patients accidentally ingested the aconite roots. After a latent period of 10 to 90 minutes, patients developed a combination of neurologic (n=17), cardiovascular (n=14), gastrointestinal (n=9), and other (n=5) features typical of aconitine poisoning. Four patients developed ventricular tachycardia. All patients received supportive treatment. Patients with ventricular tachycardia were also treated with charcoal hemoperfusion. All patients made a complete recovery. Life-threatening ventricular tachycardia can occur after the consumption of aconite roots. The risk is higher with inadequately processed aconite roots, large doses, or tincture preparations. With increasing popularity of herbal medicines, herb-induced aconitine poisoning may also be seen in Western countries.

  9. Clinical and epidemiological features of AIDS/tuberculosis comorbidity

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    Song Alice Tung Wan

    2003-01-01

    Full Text Available Considering the relevance of AIDS/tuberculosis comorbidity worldwide, especially in Brazil, this study was developed to describe the clinical and epidemiological features of the comorbid cases identified from 1989 to 1997 by the epidemiology service of the Hospital das Clínicas of the Universidade de São Paulo. METHODS: Databases containing information on all identified AIDS/tuberculosis cases cared for at the hospital were used to gather information on comorbid cases. RESULTS: During the period, 559 patients were identified as presenting with AIDS/tuberculosis comorbidity. Risk behavior for AIDS was primarily heterosexual contact (38.9%, followed by intravenous drug use (29.3% and homosexual/bisexual contact (23.2%. Regarding clinical features, there were higher rates of extrapulmonary tuberculosis when compared to tuberculosis without comorbidity. There was an increase in reporting of AIDS by ambulatory units during the period. Epidemiologically, there was a decrease in the male/female ratio, a predominance in the 20 to 39 year-old age group, and a majority of individuals who had less than 8 years of schooling and had low professional qualifications. CONCLUSIONS: High rates of AIDS/tuberculosis cases at our hospital indicate the need for better attention towards early detection of tuberculosis, especially in its extrapulmonary form. Since the population that attends this hospital tends to be of a lower socioeconomic status, better management of AIDS and tuberculosis is required to increase the rates of treatment adherence and thus lower the social costs.

  10. Clinical features and multidisciplinary approaches to dementia care

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    Gr

    2011-05-01

    pathological burden. Future research goals are outlined, with a call to action for social policy initiatives that promote preventive lifestyle behaviors, and healthcare programs that will support the growing number of individuals affected by dementia.Keywords: dementia, Alzheimer’s disease, clinical features, multidisciplinary care, BPSD, prodromal dementia

  11. Clinical Features and Management of a Median Cleft Lip

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    Kyung S. Koh

    2016-05-01

    Full Text Available BackgroundMedian cleft lip is a rare anomaly consisting of a midline vertical cleft through the upper lip. It can also involve the premaxillary bone, the nasal septum, and the central nervous system. In our current report, we present the clinical features of 6 patients with a median cleft lip and their surgical management according to the accompanying anomalies.MethodsFrom December 2010 to January 2014, 6 patients with a median cleft lip were reviewed. Five of these cases underwent surgical correction; alveolar bone grafting was performed in a patient with a median alveolar cleft. The surgical technique included inverted-U excision of the upper lip and repair of the orbicularis oris muscle. The mean follow-up period was 20.4 months (range, 7.4–44.0 months.ResultsThe study patients presented various anomalous features. Five patients received surgical correction, 4 with repair of the median cleft lip, and one with iliac bone grafting for median alveolar cleft. A patient with basal sphenoethmoidal meningocele was managed with transoral endoscopic surgery for repair of the meningocele. Successful surgical repair was achieved in all cases with no postoperative complications.ConclusionsRelatively mild forms of median cleft lip can be corrected with inverted-U excision with good aesthetic outcomes. In addition, there is a broad spectrum of clinical features and various anomalies, such as nasal deformity, alveolar cleft, and short upper frenulum, which require close evaluation. The timing of the operation should be decided considering the presence of other anomalies that can threaten patient survival.

  12. Clinical Features and Management of a Median Cleft Lip

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    Kim, Do Yeon; Oh, Tae Suk

    2016-01-01

    Background Median cleft lip is a rare anomaly consisting of a midline vertical cleft through the upper lip. It can also involve the premaxillary bone, the nasal septum, and the central nervous system. In our current report, we present the clinical features of 6 patients with a median cleft lip and their surgical management according to the accompanying anomalies. Methods From December 2010 to January 2014, 6 patients with a median cleft lip were reviewed. Five of these cases underwent surgical correction; alveolar bone grafting was performed in a patient with a median alveolar cleft. The surgical technique included inverted-U excision of the upper lip and repair of the orbicularis oris muscle. The mean follow-up period was 20.4 months (range, 7.4–44.0 months). Results The study patients presented various anomalous features. Five patients received surgical correction, 4 with repair of the median cleft lip, and one with iliac bone grafting for median alveolar cleft. A patient with basal sphenoethmoidal meningocele was managed with transoral endoscopic surgery for repair of the meningocele. Successful surgical repair was achieved in all cases with no postoperative complications. Conclusions Relatively mild forms of median cleft lip can be corrected with inverted-U excision with good aesthetic outcomes. In addition, there is a broad spectrum of clinical features and various anomalies, such as nasal deformity, alveolar cleft, and short upper frenulum, which require close evaluation. The timing of the operation should be decided considering the presence of other anomalies that can threaten patient survival. PMID:27218021

  13. Clinical features of bacterial vaginosis in a murine model of vaginal infection with Gardnerella vaginalis.

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    Gilbert, Nicole M; Lewis, Warren G; Lewis, Amanda L

    2013-01-01

    Bacterial vaginosis (BV) is a dysbiosis of the vaginal flora characterized by a shift from a Lactobacillus-dominant environment to a polymicrobial mixture including Actinobacteria and gram-negative bacilli. BV is a common vaginal condition in women and is associated with increased risk of sexually transmitted infection and adverse pregnancy outcomes such as preterm birth. Gardnerella vaginalis is one of the most frequently isolated bacterial species in BV. However, there has been much debate in the literature concerning the contribution of G. vaginalis to the etiology of BV, since it is also present in a significant proportion of healthy women. Here we present a new murine vaginal infection model with a clinical isolate of G. vaginalis. Our data demonstrate that this model displays key features used clinically to diagnose BV, including the presence of sialidase activity and exfoliated epithelial cells with adherent bacteria (reminiscent of clue cells). G. vaginalis was capable of ascending uterine infection, which correlated with the degree of vaginal infection and level of vaginal sialidase activity. The host response to G. vaginalis infection was characterized by robust vaginal epithelial cell exfoliation in the absence of histological inflammation. Our analyses of clinical specimens from women with BV revealed a measureable epithelial exfoliation response compared to women with normal flora, a phenotype that, to our knowledge, is measured here for the first time. The results of this study demonstrate that G. vaginalis is sufficient to cause BV phenotypes and suggest that this organism may contribute to BV etiology and associated complications. This is the first time vaginal infection by a BV associated bacterium in an animal has been shown to parallel the human disease with regard to clinical diagnostic features. Future studies with this model should facilitate investigation of important questions regarding BV etiology, pathogenesis and associated complications.

  14. Clinical features of bacterial vaginosis in a murine model of vaginal infection with Gardnerella vaginalis.

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    Nicole M Gilbert

    Full Text Available Bacterial vaginosis (BV is a dysbiosis of the vaginal flora characterized by a shift from a Lactobacillus-dominant environment to a polymicrobial mixture including Actinobacteria and gram-negative bacilli. BV is a common vaginal condition in women and is associated with increased risk of sexually transmitted infection and adverse pregnancy outcomes such as preterm birth. Gardnerella vaginalis is one of the most frequently isolated bacterial species in BV. However, there has been much debate in the literature concerning the contribution of G. vaginalis to the etiology of BV, since it is also present in a significant proportion of healthy women. Here we present a new murine vaginal infection model with a clinical isolate of G. vaginalis. Our data demonstrate that this model displays key features used clinically to diagnose BV, including the presence of sialidase activity and exfoliated epithelial cells with adherent bacteria (reminiscent of clue cells. G. vaginalis was capable of ascending uterine infection, which correlated with the degree of vaginal infection and level of vaginal sialidase activity. The host response to G. vaginalis infection was characterized by robust vaginal epithelial cell exfoliation in the absence of histological inflammation. Our analyses of clinical specimens from women with BV revealed a measureable epithelial exfoliation response compared to women with normal flora, a phenotype that, to our knowledge, is measured here for the first time. The results of this study demonstrate that G. vaginalis is sufficient to cause BV phenotypes and suggest that this organism may contribute to BV etiology and associated complications. This is the first time vaginal infection by a BV associated bacterium in an animal has been shown to parallel the human disease with regard to clinical diagnostic features. Future studies with this model should facilitate investigation of important questions regarding BV etiology, pathogenesis and

  15. Acute chorioamnionitis and funisitis: definition, pathologic features, and clinical significance.

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    Kim, Chong Jai; Romero, Roberto; Chaemsaithong, Piya; Chaiyasit, Noppadol; Yoon, Bo Hyun; Kim, Yeon Mee

    2015-10-01

    -term complications (ie, sterile inflammation in fetuses, neonatal sepsis, bronchopulmonary dysplasia, periventricular leukomalacia, and cerebral palsy). This article reviews the definition, pathogenesis, grading and staging, and clinical significance of the most common lesions in placental disease. Illustrations of the lesions and diagrams of the mechanisms of disease are provided. Published by Elsevier Inc.

  16. Eosinophilic Esophagitis: Clinical Features, Endoscopic Findings and Response to Treatment

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    Robert Enns

    2010-01-01

    Full Text Available Eosinophilic esophagitis (EE is a motility disorder of the esophagus that typically presents with dysphagia. The objective of the present study was to explore patient characteristics, clinical and endoscopic features, and response to treatment of patients with EE. Patients were selected retrospectively based on a review of biopsy results from previous endoscopies performed between 2004 and 2008. A total of 54 patients (41 men and 13 women with biopsy-proven EE were included in the study. Further information regarding the patients’ clinical and endoscopic features, and response to treatment were obtained through chart reviews and patient telephone interviews. The mean age of the patients at symptom onset was 30 years. All patients complained of dysphagia, 81% had a history of bolus obstruction, 43% had a history of asthma and 70% had a history of environmental allergies. Thirty-three per cent had a family history of asthma, while 52% had a family history of food or seasonal allergies. The most common endoscopic findings were rings and/or corrugations, which were found in 63% of patients. Swallowed fluticasone therapy resulted in symptom resolution in 74% of patients; however, 79% of these patients relapsed after discontinuing fluticasone therapy and required repeat treatments. Esophageal dilation was complication free and resulted in improvement in 80% of patients. However, 83% of those reporting improvement relapsed within one year. The clinical and endoscopic findings were similar to those found in the literature, with most patients requiring ongoing, repeated therapies. Further studies are needed to assess the safety and efficacy of treatment modalities ideally suited to patients with EE.

  17. Clinical characteristics and MR imaging features of nonalcoholic Wernicke encephalopathy.

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    Fei, G-Q; Zhong, C; Jin, L; Wang, J; Zhang, Yuhao; Zheng, X; Zhang, Yuwen; Hong, Z

    2008-01-01

    Nonalcoholic Wernicke encephalopathy (WE) is prone to be underestimated in clinical practice. The purpose of this study was to improve its awareness and early accurate diagnosis. We conducted a retrospective review of the cases of 12 patients with nonalcoholic WE, consisting of clinical characteristics and MR imaging features as well as follow-up after administration of thiamine. Patients with mild coma or lethargy (7/12) exhibited typical MR features of symmetric brain paraventricular damage. Patients without disturbances of consciousness or who only had drowsiness (3/12) exhibited a lesion of the periaqueductal area only. In addition to typical MR manifestations, symmetric cortical involvement was observed in 2 of 12 patients with deep coma. Gadolinium enhancement of the mammillary bodies was observed in 2 of 3 patients. No atrophy of the mammillary bodies and cerebellar vermis was found in any patients. Of 10 patients without deep coma and cortical damage, 2 missed the follow-up and 8, who recovered clinically, also showed accordant resolution of abnormal hyperintense signal intensity on T2-weighted and fluid-attenuated inversion recovery images within 2 weeks to 1 year after thiamine supplementation. Two patients with deep coma and cortical damage showed a poor prognosis:1 patient died 15 days after being diagnosed with WE, and the other entered a persistent vegetative state during a follow-up of 2 years. Typical symmetric damage of the mammillary bodies and brain paraventricular regions may permit a specific diagnosis of nonalcoholic WE. In all patients, no atrophy of the mammillary bodies and cerebellar vermis was found. Cortical involvement in patients with nonalcoholic WE may be indicative of irreversible lesions and a poor prognosis.

  18. [Right displacement of the abomasum in cattle. 1. Pathogenesis, clinical course and prognosis].

    Science.gov (United States)

    Kümper, H

    1995-08-01

    A report is given about 462 cases (1989-1994) of abomasal displacement (RDA, n = 275) and abomasal volvulus (AV, n = 187) in cattle. The pathogenesis and the functional disturbances of abomasal hypotony, displacement, and volvulus are described. A right and dorsally displaced abomasum easily performs an additional rotation around a vertical axis. In 99% of all cases this rotation is performed to the left (counter-clockwise, seen from rear) and the duodenum twines round the abomasal fundus, where it is compressed and trapped between the abomasum and the omasum. The intestinal passage becomes obstructed. As long as the abomasal twist does not exceed 180 degrees, functional disturbances are caused mainly by a reduced abomasal outflow, resulting in dehydration and in disturbances of blood acid-base-balance (hypochloremic alcalosis). These cases have a very good prognosis (success of treatment 91.3%), when surgery is performed immediately. When the twist of the abomasum exceeds 180 degrees (abomasal volvulus), the twine gets more contracted, strangulating the abomasal nerves and blood vessels. Serious cases like this (n = 136) were treated successfully in 64.7%. When the abomasal volvulus is complicated by an omasal (RDAO, n = 31) or an omasal and reticular involvement (RDAOR, n = 20) the success of therapy decreases to about 40%.

  19. Clinical features of idiopathic inflammatory polymyopathy in the Hungarian Vizsla.

    Science.gov (United States)

    Tauro, Anna; Addicott, Diane; Foale, Rob D; Bowman, Chloe; Hahn, Caroline; Long, Sam; Massey, Jonathan; Haley, Allison C; Knowler, Susan P; Day, Michael J; Kennedy, Lorna J; Rusbridge, Clare

    2015-04-21

    A retrospective study of the clinicopathological features of presumed and confirmed cases of idiopathic inflammatory polymyopathy in the Hungarian Vizsla dog and guidelines for breeding. 369 medical records were reviewed (1992-2013) and 77 Hungarian Vizslas were identified with a case history consistent with idiopathic inflammatory polymyopathy. Inclusion criteria were: group 1 (confirmed diagnosis); histopathology and clinical findings compatible with an inflammatory polymyopathy and group 2 (probable diagnosis); clinical findings compatible with a polymyopathy including dysphagia, sialorrhea, temporal muscle atrophy, elevated serum creatine kinase (CK) activity, and sufficient clinical history to suggest that other neuromuscular disorders could be ruled out. Some group 2 dogs had muscle biopsy, which suggested muscle disease but did not reveal an inflammatory process. The mean age of onset was 2.4 years; male dogs were slightly overrepresented. Common presenting signs were dysphagia, sialorrhea, masticatory muscle atrophy, and regurgitation. Common muscle histopathological findings included degenerative and regenerative changes, with multifocal mononuclear cell infiltration with lymphoplasmacytic myositis of variable severity. A positive response to immunosuppressive treatment supported an immune-mediated aetiology. The mean age at death and survival time were 6.4 and 3.9 years, respectively. Recurrence of clinical signs and aspiration pneumonia were common reasons for euthanasia. Diagnosis of Vizsla idiopathic inflammatory polymyopathy can be challenging due to lack of specific tests, however the presence of dysphagia, regurgitation and masticatory muscle atrophy in this breed with negative serological tests for masticatory muscle myositis and myasthenia gravis, along with muscle biopsies suggesting an inflammatory process, support the diagnosis. However, there is an urgent need for a more specific diagnostic test. The average of inbreeding coefficient (Co

  20. An International MDS/MPN Working Group’s perspective and recommendations on molecular pathogenesis, diagnosis and clinical characterization of myelodysplastic/myeloproliferative neoplasms

    Science.gov (United States)

    Mughal, Tariq I.; Cross, Nicholas C.P.; Padron, Eric; Tiu, Ramon V.; Savona, Michael; Malcovati, Luca; Tibes, Raoul; Komrokji, Rami S.; Kiladjian, Jean-Jacques; Garcia-Manero, Guillermo; Orazi, Attilio; Mesa, Ruben; Maciejewski, Jaroslaw P.; Fenaux, Pierre; Itzykson, Raphael; Mufti, Ghulam; Solary, Eric; List, Alan F.

    2015-01-01

    In the 2008 WHO classification, chronic myeloid malignancies that share both myelodysplastic and myeloproliferative features define the myelodysplastic/myeloproliferative group, which includes chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, atypical chronic myeloid leukemia, refractory anemia with ring sideroblasts and thrombocytosis, and myelodysplastic/myeloproliferative unclassified. With the notable exception of refractory anemia with ring sideroblasts and thrombocytosis, there is much overlap among the various subtypes at the molecular and clinical levels, and a better definition of these entities, an understanding of their biology and an identification of subtype-specific molecular or cellular markers are needed. To address some of these challenges, a panel comprised of laboratory and clinical experts in myelodysplastic/myeloproliferative was established, and four independent academic MDS/MPN workshops were held on: 9th March 2013, in Miami, Florida, USA; 6th December 2013, in New Orleans, Louisiana, USA; 13th June 2014 in Milan, Italy; and 5th December 2014 in San Francisco, USA. During these meetings, the current understanding of these malignancies and matters of biology, diagnosis and management were discussed. This perspective and the recommendations on molecular pathogenesis, diagnosis and clinical characterization for adult onset myelodysplastic/myeloproliferative is the result of a collaborative project endorsed and supported by the MDS Foundation. PMID:26341525

  1. Genetic epidemiology, hematological and clinical features of hemoglobinopathies in Iran.

    Science.gov (United States)

    Rahimi, Zohreh

    2013-01-01

    There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. β-Thalassemia is more prevalent in northern and southern Iran. Among 52 different β-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of α-thalassemia alleles has been detected among Iranians with -α(3.7 kb) as the most prevalent α-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous β-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of β-thalassemia in Iran will be discussed.

  2. The clinical features of the overlap between COPD and asthma

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    Schroeder Joyce D

    2011-09-01

    Full Text Available Abstract Background The coexistence of COPD and asthma is widely recognized but has not been well described. This study characterizes clinical features, spirometry, and chest CT scans of smoking subjects with both COPD and asthma. Methods We performed a cross-sectional study comparing subjects with COPD and asthma to subjects with COPD alone in the COPDGene Study. Results 119 (13% of 915 subjects with COPD reported a history of physician-diagnosed asthma. These subjects were younger (61.3 vs 64.7 years old, p = 0.0001 with lower lifetime smoking intensity (43.7 vs 55.1 pack years, p = 0.0001. More African-Americans reported a history of asthma (33.6% vs 15.6%, p Conclusion Subjects with COPD and asthma represent a relevant clinical population, with worse health-related quality of life. They experience more frequent and severe respiratory exacerbations despite younger age and reduced lifetime smoking history. Trial registration ClinicalTrials.gov: NCT00608764

  3. Clinical features and etiology of retinal vasculitis in Northern Thailand

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    Supanut Apinyawasisuk

    2013-01-01

    Full Text Available Purpose: To report on the clinical features and etiology of patients with retinal vasculitis (RV. Materials and Methods: We reviewed medical records of 47 patients (75 affected eyes diagnosed with RV. Clinical presentations, ocular complications, associated systemic diseases, and treatment regimens were registered. Results: Etiology of RV included infectious causes in 10/47, (21% while an association with systemic and/or ocular non-infectious disorders was noted in 22/47 (47%. Eales′ disease and Behcet′s disease represented the most common clinical entities in non-infectious group while tuberculosis-associated RV was diagnosed in 6/10 (60% among those with infectious disorders. RV was bilateral in 28/47 (60% patients. Retinal veins were most commonly affected (72%, 34/47. Involvement of arteries was present in 12/47 (25% and was associated with viral infections and Behcet′s disease. Ocular complications developed in 60/75 (80% eyes. The most common complications were elevated intraocular pressure and/or glaucoma (33/75, 44%. Retinal detachment, vitreous hemorrhage, and cystoid macular edema developed in similar percentages (15%. Conclusions: RV in Thailand manifested mostly in male patients, was typically bilateral and involved mostly veins. Involvement of arteries was observed in patients with viral infections and Behcet′s disease. Tuberculosis was the most common infectious cause.

  4. Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

    Science.gov (United States)

    Rahimi, Zohreh

    2013-01-01

    There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. β-Thalassemia is more prevalent in northern and southern Iran. Among 52 different β-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of α-thalassemia alleles has been detected among Iranians with −α 3.7 kb as the most prevalent α-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous β-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of β-thalassemia in Iran will be discussed. PMID:23853772

  5. The clinical and cerebrospinal fluid cytological features of tuberculous meningitis

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    YANG Xiao

    2012-04-01

    Full Text Available Objective To analyze the clinical and cerebrospinal fluid (CSF cytological features of patients with tuberculous meningitis (TBM, to improve early diagnostic accuracy and treatment of TBM. Methods Clinical presentations, etiology and biochemical and cytological features of CSF were analyzed retrospectively among 60 adult cases with TBM hospitalized at Neurology Department of General Hospital of Ningxia Medical University from January 2005 to May 2011. Results Most patients (58/60, 96.67% had fever and headache at onset. In some patients, disturbance of consciousness (9/60, 15.00%, seizure (5/60, 8.33% occurred in 1 week and focal neurological signs developed during the course. Forty?four patients (73.33% had pulmonary tuberculosis history. In CSF examination, acid?fast bacillus positive was found in 8 patients. Positive acid ? fast myobacterium tuberculous culture was detected in 5 patients and positive myobacterium tuberculosis DNA were seen in 5 patients. The main changes of CSF were intracranial hypertension, increase of protein, and decrease of glucose. CSF presented mixed cellular response with predominace in the increasing of leucocytes. During early stage the mean percentage of neutrophil in CSF was less than 40%. After short term (as long as 2 months of regular antituberculotic therapy no significant changes in total cell count and the proportion of neutrophils were seen. In 60 patients, 44 patients were ameliorated, 11 were not healed or were discharged or transferred to other hospital and 5 were dead. Prognosis of patients treated within 3 weeks after onsets was superiorly to those treated at more than 3 weeks after onset. Conclusion There are no specific clinical features in TBM and it is hard to perform early diagnosis for TBM, particularly, existing of low efficiency in pathogenic detection, but pulmonary tuberculosis is of accessary value to diagnose TBM. Whereas mixed cellular response may complementarily provide the diagnosis of

  6. Clinical features of unspecified functional bowel disorder in servicemen from a Chinese army unit

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    Xin YAO

    2017-02-01

    Full Text Available Objective To investigate clinical manifestation of unspecified functional bowel disorder (UFBD, the features of coexistence with functional gastrointestinal disorder (FGID and its relationship with psychological factors and sleep disturbance in the Chinese Army servicemen. Methods cFGIDs were diagnosed based on the Rome Ⅲ Modular Questionnaire. The subjects were 189 servicemen with UFBD (UFBD group and 372 without FGID (control group. All subjects completed symptom checklist 90 (SCL-90 and Pittsburgh Sleep Quality Index (PSQI questionnaire. Results 'Have to rush to the toilet when having a desire to defecate' was the most frequent symptom of UFBD (93.7%. More than one half of UFBD patients had the symptom 'a feeling of incomplete emptying as bowel movements' or 'straining during bowel movements'. Twenty-eight percent of UFBD subjects had combined FGID (namely cFGID. Among them, the most frequent was proctalgia fugax (7.9%, followed by cyclic vomiting syndrome (6.3%, functional fecal incontinence (6.3%, functional dyspepsia (4.8% and belching (4.8%. The UFBD group scored significantly higher than the control group in the global severity index (GSI and in all SCL-90 subscales (P0.05. Conclusion Pathogenesis of UFBD may be closely correlated with psychiatric and psychological factors and sleep disturbance. cFGID are associated with an increased severity of psychopathological features. DOI: 10.11855/j.issn.0577-7402.2017.01.15

  7. Critical roles of Kupffer cells in the pathogenesis of alcoholic liver disease: from basic science to clinical trials

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    Tao Zeng

    2016-11-01

    Full Text Available Alcoholic liver disease (ALD encompasses a spectrum of liver injury ranging from steatosis to steatohepatitis, fibrosis, and finally cirrhosis. Accumulating evidences have demonstrated that Kupffer cells (KCs play critical roles in the pathogenesis of both chronic and acute ALD. It has become clear that alcohol exposure can result in increased hepatic translocation of gut-sourced endotoxin/lipopolysaccharide (LPS, which is a strong M1 polarization inducer of KCs. The activated KCs then produce a large amount of reactive oxygen species (ROS, proinflammatory cytokines, and chemokines, which finally lead to liver injury. The critical roles of KCs and related inflammatory cascade in the pathogenesis of ALD make it as promising targets in pharmaceutical drug developments for ALD treatment. Several drugs (such as rifaximin, pentoxifylline, infliximab, etc have been evaluated or are under evaluation for ALD treatment in randomized clinical trials. Furthermore, screening pharmacological regulators for KCs towards M2 polarization may provide additional therapeutic agents. The combination of these potentially therapeutic drugs with hepatoprotective agents (such as zinc, melatonin, silymarin, etc may bring encouraging results.

  8. Clinical features of choroidal metastases from carcinoid tumour.

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    She, Huaning; Zheng, Yuping; Wang, Xiaohua; Quan, Yanlong; Sun, Naixue

    2004-03-01

    To report ophthalmologic and angiographic features of choroidal metastases from carcinoid tumor and analyze their common clinical manifestation. Ophthalmologic examinations and fundus fluorescein angiography (FFA) were performed in 30 patients suffered from carcinoid tumor, and four patients diagnosed of breast cancer (2 cases), lung cancer (1 case) and maxillary sinus cancer (1 case) were confirmed with choroidal metastases. Choroidal metastases were found as the initial manifestations of the malignant tumors on 2 patients whose initial and chief complaints were decreasing vision, their fundus lesions were mainly presented in the posterior pole and FFA showed high density of fluorescence of the lesions. This study indicated choroidal metastasis might be the first sign of metastases for patients with cancer. For patients with unknown metastasic cancers, examinations of the choroids may be useful for diagnosis and prognosis.

  9. Epidemiology, pathophysiology, and clinical features of obstructive sleep apnea.

    Science.gov (United States)

    Madani, Mansoor; Madani, Farideh

    2009-11-01

    The normal cycle of respiration includes a unique balancing force between many upper airway structures that control its dilation and closure. Alteration of this delicate equilibrium, possibly by an increased airflow resistance, can cause various degrees of obstructive sleep apnea (OSA). OSA is now recognized as a major illness, an important cause of medical morbidity and mortality affecting millions of people worldwide, and a major predisposing factor for several systemic conditions, such as hypertension, cardiovascular disease, stroke, diabetes, and even sexual dysfunction. Initial evaluation for possible OSA may be done by dental professionals who can provide guidance for its comprehensive evaluation and management. Because of the complexity of the disease, factors contributing to its development must be identified. Some factors caused by the patient's anatomic structures are slightly easier to rectify, whereas others may relate to the patient's age, sex, habits, or associated illnesses, including obesity. In this article, various epidemiologic, pathophysiologic, and clinical features of OSA are discussed.

  10. Clinical and echocardiographic features of aorto-atrial fistulas

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    Ananthasubramaniam Karthik

    2005-01-01

    Full Text Available Abstract Aorto-atrial fistulas (AAF are rare but important pathophysiologic conditions of the aorta and have varied presentations such as acute pulmonary edema, chronic heart failure and incidental detection of the fistula. A variety of mechanisms such as aortic dissection, endocarditis with pseudoaneurysm formation, post surgical scenarios or trauma may precipitate the fistula formation. With increasing survival of patients, particularly following complex aortic reconstructive surgeries and redo valve surgeries, recognition of this complication, its clinical features and echocardiographic diagnosis is important. Since physical exam in this condition may be misleading, echocardiography serves as the cornerstone for diagnosis. The case below illustrates aorto-left atrial fistula formation following redo aortic valve surgery with slowly progressive symptoms of heart failure. A brief review of the existing literature of this entity is presented including emphasis on echocardiographic diagnosis and treatment.

  11. Radiological and clinical features of adult non-puerperal mastitis

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    Tan, H; Li, R; Liu, H; Gu, Y; Shen, X

    2013-01-01

    Objective: To describe the radiological and clinical features of adult non-puerperal mastitis and to determine the most accurate method of preventing unnecessary surgical procedures. Methods: Clinical and imaging findings were retrospectively reviewed in 51 females with non-puerperal mastitis, which was confirmed by biopsy/surgical pathology. All 51 patients had pre-operative MRI; 45 patients also had sonograms and 25 also had mammograms, pre-operatively. Results: Of the 51 cases with non-puerperal mastitis, 94.1% (48/51) were confirmed as having acute or chronic inflammation, and the other 3 had plasma cell mastitis; areola papillaris inflammation was found in 39.2% (20/51) of the cases. Overall, 6 of the 25 cases that were examined with mammography and 2 of the 45 cases that were examined with sonography appeared normal, but all 51 lesions were positively identified on MRI. Asymmetrical density (12/25) on mammograms and solitary or separated/contiguous, clustered, hypoechoic mass-like lesions (31/45) on ultrasound were the most common signs of non-puerperal mastitis. On enhanced MRI, 90.2% (46/51) of patients showed non-mass-like enhanced lesions. Multiple regional enhancements in the pattern of distribution (32/46) and separated or contiguous, clustered, rim-like enhancements in the pattern of internal enhancement (29/46) were the most common manifestations in non-mass-like enhanced lesions. Of the 51 patients, mastitis Type 1 and Type 2 in the time–signal intensity curve were detected in 47.1% and 51.0% of the patients, respectively. The breast imaging reporting and data system categories with the highest number of patients were Category 0 (9/25) on mammography, Category 4a on sonography (18/45) and Category 4a on MRI (29/51). Conclusion: The findings from mammography and ultrasound are non-specific; therefore, using MR can be helpful in the diagnosis, especially in the presence of non-mass-like enhancements that are multiple, regional, separated, or

  12. Clinical and genetic features of ataxia-telangiectasia

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    Bundey, S. [Birmingham Maternity Hospital (United Kingdom). Clinical Genetics Unit

    1994-12-01

    There are several variants of ataxia-telangiectasia (A-T): classical A-T with marked radiation sensitivity; classical A-T with intermediate levels of radiation sensitivity; mild A-T with intermediate levels of radiation sensitivity; A-T without telangiectasia; A-T without oculomoto apraxia; and A-T with microcephaly. These disorders are probably caused by different allelic mutations, because affected sibs resemble the index patients, and because there is an association of certain haplo-types of 11q22-23 with specific phenotypes. The Nijmegen Breakage Syndrome, with its lack of ataxia, seems on clinical grounds to be a different disorder. Although A-T is almost always inherited as an autosomal recessive, there are some unusual features; an unexpectedly low parental consanguinity rate, an incidence in sibs that is < 0.25, and occurrence of disease in many different races and in the offspring of mixed race unions. Moreover, looking at haplotypes from 63 UK patients, there is a remarkably low incidence of homozygosity. An autosomal recessive condition that is deficient in parental consanguinity, and in homozygosity for the region around the gene, can be explained by J.H. Edwards` hypothesis that homozygosity for alleles at a neighbouring locus are lethal early in embryogenesis. Other possible mechanisms to explain the unusual genetic features are discussed. (author).

  13. Malignant clinical features of anaplastic gliomas without IDH mutation.

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    Shibahara, Ichiyo; Sonoda, Yukihiko; Shoji, Takuhiro; Kanamori, Masayuki; Saito, Ryuta; Inoue, Tomoo; Kawaguchi, Tomohiro; Yamashita, Yoji; Watanabe, Takashi; Kumabe, Toshihiro; Watanabe, Mika; Suzuki, Hiroyoshi; Tominaga, Teiji

    2015-01-01

    Diagnosis of WHO grade III anaplastic gliomas does not always correspond to its clinical outcome because of the isocitrate dehydrogenase (IDH) gene status. Anaplastic gliomas without IDH mutation result in a poor prognosis, similar to grade IV glioblastomas. However, the malignant features of anaplastic gliomas without IDH mutation are not well understood. The aim of this study was to examine anaplastic gliomas, in particular those without IDH mutation, with regard to their malignant features, recurrence patterns, and association with glioma stem cells. We retrospectively analyzed 86 cases of WHO grade III anaplastic gliomas. Data regarding patient characteristics, recurrence pattern, and prognosis were obtained from medical records. We examined molecular alterations such as IDH mutation, 1p19q loss, TP53 mutation, MGMT promoter methylation, Ki67 labeling index, and CD133, SOX2, and NESTIN expression. Of the 86 patients with anaplastic gliomas, 58 carried IDH mutation, and 40 experienced recurrence. The first recurrence was local in 25 patients and distant in 15. Patients without IDH mutation exhibited significantly higher CD133 and SOX2 expression (P = .025 and .020, respectively) and more frequent distant recurrence than those with IDH mutation (P = .022). Patients with anaplastic gliomas without IDH mutation experienced distant recurrence and exhibited glioma stem cell markers, indicating that this subset may share some malignant characteristics with glioblastomas. © The Author(s) 2014. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  14. Corpus Luteum Cyst Rupture - US Findings and Clinical Features

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    Shin, Shang Hun; Lee, Jong Hwa; Kang, Byeong Seong; Yang, Myeon Jun; Jeong, Yoong Ki [Ulsan University Hospital, Ulsan (Korea, Republic of); Kim, Yong Hwan [Dongsan Medical Center, Keimyung University College of Medicine, Daegu (Korea, Republic of); Lee, Jae Hung [Dong Kang General Hospital, Ulsan (Korea, Republic of)

    2006-09-15

    To describe the US findings of corpus luteum cyst rupture in order to elucidate the associated clinical features. Twenty patients with proven corpus luteum cyst rupture were included in this study. The US findings of these patients were retrospectively analyzed in terms of the presence of designable cyst, size of the cyst, thickness and blood flow of the cyst wall, extension and echogenicity of peritoneal fluid, and involved site (right or left ovary). We also surveyed the clinical features such as the onset period according to the menstrual cycle, and the presence of suspectable cause. Fourteen of the 20 patients revealed designable cysts (mean diameter of 2.6 cm) with thick walled cysts (mean thickness, 4.6 mm, 2.4-6.8 mm) and increased blood flow. Six patients didn't reveal any cyst but only hematoma in adnexa. All patients had hemoperitoneum in the pelvic cavity, and the hemoperitoneum was extended to Morrison's pouch in 8 patients and to the subphrenic space in 6. The cysts occurred in the right adnexa in 15 patients and in the left in 5. Mean interval from the last menstrual period (LMP) was 26 days (13-44 days) and 6 of the 8 patients for whom it had been possible to obtain detailed history taking had had coitus just before the occurrence of symptom. When women who are hospitalized for acute abdomen and who are in luteal phase reveal US findings of hematoma or thick-walled cyst in adnexa and hemoperitoneum, a corpus luteum cyst rupture is highly suspected. In our case study the corpus luteum cyst rupture predominantly occurred in the right side, and the most suspectable cause was trauma such as coitus in the luteal phase

  15. Clinical Features of Hemorrhagic Moyamoya Disease in China.

    Science.gov (United States)

    Ge, Peicong; Zhang, Qian; Ye, Xun; Liu, Xingju; Deng, Xiaofeng; Li, Hao; Wang, Rong; Zhang, Yan; Zhang, Dong; Cao, Yong; Wang, Shuo; Zhao, Jizong

    2017-10-01

    To elucidate the clinical features of patients with hemorrhagic moyamoya disease (MMD) in China. We retrospectively reviewed 471 patients with hemorrhagic MMD at Beijing Tiantan Hospital. Clinical features and radiologic findings were analyzed. The mean age at diagnosis was 35.3 ± 11.5 years, with 1 peak distribution in patients from 35 to 39 years of age. The ratio of women to men was 1.2:1. Familial occurrence was 3.8%. The primary symptoms at initial presentation were intraventricular hemorrhage (42.0%), intracerebral hemorrhage (23.6%), intracerebral hemorrhage with intraventricular hemorrhage (18.3%), and subarachnoid hemorrhage (16.1%). Before the diagnosis, 68 patients experienced a second episode of bleeding. Rebleeding tends to be common within 6 years after the first bleeding (83.8%). The second bleeding episode was characterized by a change in which hemisphere bleeding occurred in 7 patients (10.3%) and by the type of bleeding in 23 patients (33.8%). Most patients presented with Suzuki stage 3 or 4 MMD (61.7%). Posterior cerebral artery involvement was observed in 28 (18.4%) patients. Forty-three intracranial aneurysms were identified in 39 patients (8.3%). A 1-peak pattern in age distribution and mild female dominance in sex distribution were observed in patients with hemorrhagic MMD. Rebleeding tends to be common within 6 years after the first bleeding; however, some cases of rebleeding occur after a long period. Furthermore, the second bleeding episode was characterized frequently by a change in hemisphere and the type of bleeding. Early surgical treatment in both hemispheres is recommended. Copyright © 2017 Elsevier Inc. All rights reserved.

  16. HYPERPHAGIA REACTIONS WITHIN EATING DISORDERS. CLINICAL FEATURES AND THERAPY

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    O. A. Gladyshev

    2014-01-01

    Full Text Available Aim. To evaluate clinical features of hyperphagia reactions, their significance in attraction abnormities within eating disorders and treatment options for these conditions with escitalopram.Material and methods. Mental state of 39 women (age 19-50 years with psychogenic overeating and obesity (body mass index of 30 to 53 kg/m2 was studied. Patients were admitted to the Institute of Nutrition of the Russian Academy of Medical Sciences. Diagnostic criteria for International Classification of Diseases, 10th edition, as well as Eating Disorder Inventory (EDI, Hospital Anxiety and Depression Scale (HADS and Ferreri Anxiety Rating Diagram (FARD were used for syndrome qualifications. Patient Global Impression of Change was also studied using a 4-point scale of results (excellent, good, fair, and negative.Results. Clinical features of hyperphagic reactions were found. Escitalopram treatment course was completed with excellent and good results in 80% of patients. 50%-reduction in HADS score for anxiety was found in 74% of patients, for depression – in 63%, and for Ferreri scale – in 68% of patients. Escitalopram promoted more intensive body weight loss: 11% vs 8% of baseline weight in active and control groups, respectively. Adverse events occurred only in 7 (36% patients; they were transient and did not require therapy discontinuation.Conclusion: Significant differences of premanifest disorders were often observed in patients history. Escitalopram in these patients showed efficacy in improvement of both mental and somatic symptoms of anxiety. It decreased dependence on food as a factor mitigating affect and stress, thus provided better results in body weight reduction.

  17. HYPERPHAGIA REACTIONS WITHIN EATING DISORDERS. CLINICAL FEATURES AND THERAPY

    Directory of Open Access Journals (Sweden)

    O. A. Gladyshev

    2015-09-01

    Full Text Available Aim. To evaluate clinical features of hyperphagia reactions, their significance in attraction abnormities within eating disorders and treatment options for these conditions with escitalopram.Material and methods. Mental state of 39 women (age 19-50 years with psychogenic overeating and obesity (body mass index of 30 to 53 kg/m2 was studied. Patients were admitted to the Institute of Nutrition of the Russian Academy of Medical Sciences. Diagnostic criteria for International Classification of Diseases, 10th edition, as well as Eating Disorder Inventory (EDI, Hospital Anxiety and Depression Scale (HADS and Ferreri Anxiety Rating Diagram (FARD were used for syndrome qualifications. Patient Global Impression of Change was also studied using a 4-point scale of results (excellent, good, fair, and negative.Results. Clinical features of hyperphagic reactions were found. Escitalopram treatment course was completed with excellent and good results in 80% of patients. 50%-reduction in HADS score for anxiety was found in 74% of patients, for depression – in 63%, and for Ferreri scale – in 68% of patients. Escitalopram promoted more intensive body weight loss: 11% vs 8% of baseline weight in active and control groups, respectively. Adverse events occurred only in 7 (36% patients; they were transient and did not require therapy discontinuation.Conclusion: Significant differences of premanifest disorders were often observed in patients history. Escitalopram in these patients showed efficacy in improvement of both mental and somatic symptoms of anxiety. It decreased dependence on food as a factor mitigating affect and stress, thus provided better results in body weight reduction.

  18. Clinical features of HIV/AIDS patients with digestive diseases

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    YIN Fei

    2016-07-01

    Full Text Available ObjectiveTo analyze the clinical data of patients admitted with an initial diagnosis of digestive diseases who have human immunodeficiency virus (HIV/acquired immune deficiency syndrome (AIDS, and to guide clinical diagnosis. MethodsThe clinical data of HIV/AIDS patients who were hospitalized due to digestive system symptoms from January 1, 2013 to December 31, 2014 were collected, including epidemiological data, clinical symptoms and signs, auxiliary examinations, and complications. The features of each parameter were observed. The t-test was used for comparison of continuous data between groups, and the chi-square test was used for comparison of categorical data between groups. ResultsA total of 95 HIV/AIDS patients with digestive diseases were enrolled, and the male/female ratio was 1.4∶1. Among these patients, 57 (60% were aged 30-50 years, 85 (89.47% were Yi people, and 86 (90.53% were farmers. Of all patients, 46 (48.42% were infected via sexual transmission and 44 (46.32% were infected via intravenous drug use. In these patients, common clinical symptoms included abdominal pain (71.58%, pyrexia (43.16%, and diarrhea (17.89%, and common signs included ascites (28.42%, superficial lymphadenectasis (21.05%, and hepatosplenomegaly (16.84%. The auxiliary examination showed a significant increase in globulin. The proportion of patients with opportunistic infection reached 83.16%, mainly lung and digestive tract infections. Among the patients who underwent gastroscopy, 31.58% had mycotic esophagitis. Chronic non-atrophic gastritis, electrolyte disturbance, and intestinal obstruction were commonly seen in patients with noninfectious complications. Of all HIV/AIDS patients, 5474% (52/95 were complicated by HBV and/or HCV infection, and the liver function parameters globulin, total bilirubin, aspartate aminotransferase, alanine aminotransferase, and A/G showed significant differences between these patients and the patients with HIV infection

  19. Fat necrosis of the breast: clinical, mammographic and sonographic features

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    Bilgen, Isil Guenhan; Ustun, Esin Emin; Memis, Aysenur

    2001-08-01

    Objective: the purpose of this study was to describe and quantitate the clinical, mammographic and sonographic (US) features and to evaluate the evolution of fat necrosis in the breast. Materials and methods: a retrospective review of the clinical, mammographic and US findings of 126 fat necrosis lesions in 94 patients, diagnosed between 1989 and 1999, was done. All the cases included in the study had at least 3 years follow-up mammograms. In addition, 48 patients with a total of 62 fat necrosis lesions, also had an US follow-up. Fat necrosis was diagnosed on the basis of histologic (n=25) and initial or follow-up imaging (n=69) findings. Results: the predominant mammographic features of the 114 lesions apparent on mammograms were radiolucent oil cyst (n=34, 26.9%), round opacity (n=16, 12.6%), asymmetrical opacity or heterogenicity of the subcutaneous tissues (n=20, 15.8%), dystrophic calcifications (n=34, 26.9%), clustered pleomorphic microcalcifications (n=5, 3.9%), and suspicious speculated mass (n=5, 3.9%). In five patients with 12 (9.5%) palpable masses, mammograms were normal. The predominant US features of the 112 lesions apparent on sonograms were solid (n=18, 14.2%), anechoic with posterior acoustic enhancement (n=21, 16.6%), anechoic with posterior acoustic shadowing (n=20, 15.8%), cystic with internal echoes (n=14, 11.1%), cystic with mural nodule (n=5, 3.9%) and increased echogenicity of the subcutaneous tissues (n=34, 26.9%). In five patients with 14 (11.1%) lesions, sonographic examination was normal. Mammographic follow-up showed that five of the radiolucent oil cysts developed curvilinear calcifications, six of the round opacities decreased in size and density, and another two disappeared. Eleven of the dystrophic calcifications became even more coarse. Six of the asymmetrical opacities became vague and one developed an oil cyst and coarse calcifications. The only nonoperated speculated mass developed a typical small radiolucent oil cyst in the

  20. Characteristics, clinical features and treatment of supernumerary teeth.

    Science.gov (United States)

    Yassin, Othman M; Hamori, Eman

    2009-01-01

    To determine the characteristics, clinical features and treatment of supernumerary teeth in a general district hospital in the North of Jordan. This retrospective study was conducted at Prince Rashid Al-Hassan Hospital in Irbid. The medical records of 139 patients who were diagnosed to have supernumerary teeth during the period April 1993 - June 2007 were reviewed. Clinical data on the location, number eruption status, stages of development, and the types of supernumerary teeth were recorded, along with information on demographics, treatment, associated systemic syndromes, effects on adjacent teeth, and treatment. The male to female ratio was 2.2:1. Of the 186 supernumerary teeth investigated (65.0%) were conical, (23.7%) supplemental, (10.8%) tuberculate and (0.5%) odontoma. Two-thirds of the supernumeraries were erupted. Of this sample (21.6%) patients had multiple supernumerary teeth. The most frequent location was at the premaxilla level. The most common effect on adjacent teeth was delayed eruption (23.1%). Simple and surgical extractions of supernumerary teeth were done for (81.7%) of the cases and orthodontic treatment was needed in (74.1%) of patients. Supernumerary teeth are an uncommon dental entity. An early diagnosis prevents or reduces the risk of complications and when combined with an earlier removal has a better prognosis.

  1. Anthropometric Standards and Clinical Features of Obesity in Children

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    T.V. Sorokman

    2015-01-01

    Full Text Available This paper examines the prevalence of overweight and obesity in children from Chernivtsi region. Material and Methods. 325 children aged 10 to 18 years were examined. The control group consisted of 80 apparently healthy children of the same age. Methods of investigation included medical history, anthropometry (height, weight, body mass index, waist circumference, hip circumference, laboratory and instrumental examination. Results. It is shown that overweight and obesity are more often detected in boys (60 % aged 15–18 years and girls (40 % aged 12–15 years. The habitants of city reasonably more often suffer from overweight and obesity. Overweight was detected in both parents of 45 (15.7 % patients had excessive body weight, and only in one parent of 80 (28.1 % patients (in mothers more often than in fathers. 86.9 % of patients had relatives who suffer from obesity. The feature of clinical course of overweight and obesity in children is a combination with numerous nosologies, that determines the appearance of large amount of various clinical symptoms. Conclusions. Due to the high comorbidity, the problem of overweight and obesity should be in the focus of not only pediatric endocrinologists, but also related professionals to prevent further progression and development of complications.

  2. Clinical features of primary cicatricial alopecia in Chinese patients

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    Shiling Qi

    2014-01-01

    Full Text Available Background: There have been few reports on primary cicatricial alopecias (PCR especially from Asia (PCA. Aims: To study the clinical, pathological and dermoscopic characteristics of PCA among Chinese patients. Methods: A retrospective analysis of the clinical data of 59 patients with PCA was conducted and the dermoscopic, pathological, treatment and prognosis characteristics analyzed. Fisher′s Chi-square exact test, Kruskal-Wallis and Spearman rank correlation test were performed. Results: The ratio of neutrophilic to lymphocytic cicatricial alopecias was about 1.3:1 in this group. The most frequent disorder was folliculitis decalvans. Follicular openings were absent on dermoscopy in all cases except alopecia mucinosa. Patulous follicular openings were characterisitc of alopecia mucinosa. After treatment, an increase in short vellus hairs was the earliest feature, while telangiectasia, epidermal scale, follicular hyperkeratosis, pustules and hair diameter diversity gradually decreased or even disappeared. Improvement in the areas of hair loss after treatment was seen more often in discoid lupus erythematosus, folliculitis decalvans and dissecting cellulitis than in patients with classic pseudopelade of Brocq. Nine patients (13.6% relapsed after cessation of therapy. Female patients needed longer treatment times. Long duration, large areas of hair loss and shorter treatment courses were the major factors in relapses. Conclusions: Dermatoscopy provides a rapid, practical and useful aid for the diagnosis of PCA and also to assess disease activity. Patulous follicular openings are a specific dermoscopic sign of alopecia mucinosa. Lichen planopilaris is less common in China than in the West.

  3. Clinical features of endemic community-acquired psittacosis

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    J.M. Branley

    2014-01-01

    Full Text Available Following a large outbreak of community-acquired psittacosis in 2002 in residents of the Blue Mountains, New South Wales, Australia, we reviewed new cases in this area over a 7-year period from 2003 to 2009. Using the 2010 criteria from the Centers for Disease Control National Notifiable Diseases Surveillance System, 85 patients with possible psittacosis were identified, of which 48 were identified as definite or probable infection. Clinical features of these cases are summarized. In addition to Chlamydia-specific serology, specimens, where available, underwent nucleic acid testing for chlamydial DNA using real-time PCR. Chlamydophila psittaci DNA was detected in samples from 23 patients. Four of 18 specimens were culture positive. This is the first description of endemic psittacosis, and is characterized in this location by community-acquired psittacosis resulting from inadvertent exposure to birds. The disease is likely to be under-diagnosed, and may often be mistaken for gastroenteritis or meningitis given the frequency of non-respiratory symptoms, particularly without a history of contact with birds. Clinical characteristics of endemic and outbreak-associated cases were similar. The nature of exposure, risk factors and reasons for the occurrence of outbreaks of psittacosis require further investigation.

  4. Clinical features and pathomechanisms of syringomyelia associated with spinal arachnoiditis.

    Science.gov (United States)

    Koyanagi, Izumi; Iwasaki, Yoshinobu; Hida, Kazutoshi; Houkin, Kiyohiro

    2005-04-01

    Syringomyelia is a common intramedullary lesion associated with spinal arachnoiditis and obstruction of the foramen magnum such as in Chiari's malformation. Disturbance of cerebrospinal fluid flow around the spinal cord has an important role in the development of syringomyelia due to spinal arachnoiditis; however, the exact mechanisms have not been clarified. The purpose of this retrospective study is to understand the clinical features and pathomechanisms of syringomyelia secondary to spinal arachnoiditis and to provide the current choice of surgical treatment in this difficult clinical entity. Clinical and radiological findings in 15 patients with syringomyelia associated with spinal arachnoiditis who underwent surgical treatment in our institutes between 1982 and 2000 were reviewed. All patients presented with paraparesis or tetraparesis on admission. Magnetic resonance imaging (MRI) or computed tomography-myelography revealed that the syrinx predominantly existed at the thoracic levels. Five patients showed complete block of the thoracic subarachnoid space by conventional myelography. T2-weighted MRI showed diffuse intramedullary hyperintensity at the level of arachnoiditis. As the first surgical treatment, 10 patients underwent syringo-peritoneal shunt placement. Three patients were treated with a syringo-subarachnoid shunt, and 2 patients were treated with a ventriculoperitoneal shunt. Eight patients required further shunting operations for syringomyelia 2 months to 12 years after the first surgery. Neurologic improvement was obtained in 9 patients (60%) with decreased size of the syrinx. One patient remained stable; 5 patients showed gradual deterioration. The syrinx originated from the thoracic levels where severe adhesion of the subarachnoid space was present. The mechanisms of syrinx formation may be based on the increased interstitial fluid in the spinal cord. Shunting procedures were effective in some population of the patients. Decompression procedures

  5. Clinical and polysomnographic features of sleep-related eating disorder.

    Science.gov (United States)

    Winkelman, J W

    1998-01-01

    Sleep-related eating disorder is a recently described clinical syndrome that combines characteristics of both eating and sleep disorders. Nocturnal partial arousals are followed by rapid ingestion of food and subsequent poor memory for the episode. Only two case series examining this disorder have been published, and both are from the same sleep disorders center in a general hospital. The author describes 23 consecutive cases of sleep-related eating disorder that presented to the Sleep Disorders Center at McLean Hospital. All patients were administered at a standardized clinical sleep disorders evaluation followed by a semistructured interview to elicit information regarding characteristics of sleep-related eating disorder. Polysomnographic evaluation was performed on all patients with clinical histories of sleep-related eating disorder. Eighty-three percent (N = 19) of the 23 patients were female. For most of the patients, the disorder had begun in adolescence (mean +/- SD = 21.6 +/- 10.9 years) and had been chronic, with a mean duration of 15.8 +/- 11.2 years. Nearly all patients reported eating on a nightly basis (1-6 times per night), and all episodes followed a period of sleep. All patients described their eating as "out of control," and two thirds stated that they "binged" during the night. Over 90% (21/23) reported their state at the time of nocturnal eating as "half-awake, half-asleep" or "asleep", and over 90% reported "consistent" or "occasional" amnesia for the event. Nearly half (11/23) of the sample were given a polysomnographic diagnosis of somnambulism. Thirty-five percent (8/23) had a lifetime eating disorder diagnosis. Sleep-related eating disorder appears to be a relatively homogeneous syndrome combining features of somnambulism and daytime eating disorders. However, no current nosology accurately characterizes these patients. Physicians should be aware of the existence of the disorder and the value of referring patients with sleep-related eating

  6. [The clinical features and surgical treatment strategies of cervical kyphosis].

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    Fang, Jia-hu; Jia, Lian-shun; Zhou, Xu-hui; Song, Li-jun; Cai, Wei-hua; Li, Xiang

    2010-10-15

    To analyze the clinical characteristics and the surgical treatment strategy of cervical kyphosis. From March 2006 to October 2009, 31 cases of cervical kyphosis were treated. According to the clinical features and imaging findings, different treatment methods were used. There were 9 patients in operation group, including 4 male and 5 female patients, aged from 17 to 72 years (average age of 35 years). Among them, 5 cases were idiopathic kyphosis and 4 cases were caused by laminectomy or other reasons. There were 22 patients in conservative treatment group, including 11 male and 11 female patients, aged from 14 to 40 years (average age of 29 years), who were all idiopathic cervical kyphosis. Before and 1 week after operation, clinical assessment were taken for the patients in operation group using Spinal Cord Injuries Classification Standard of American Spinal Injury Association (AISA). During the periodic review, the anteroposterior, normal sagittal films of cervical spine were taken. At 1 week and every 6 months after operation, MRI films were also taken. These films were studied to evaluate the effects of the operations. In the conservative group, assessment of treatment results by studying anteroposterior and normal lateral views of cervical spine were were taken every month. The clinical characteristics and the surgical treatment strategies of these patients were analyzed. In operation group, 9 cases were followed up for 6 to 18 months, all patients did not failed in internal fixation and fusion. AISA neurological score and neurological function significantly improved. Three days after operation the average Cobb angle was -1.29 ° (preoperative 54.24 °). In conservative group, the average Cobb angle was -5.41 ° (before treatment 11.20 °) 4 months after the treatment. The symptoms of neck shoulder and back pain disappeared, and all patients were followed up for 3 to 24 months, with no recurrence of symptoms. In the early period of cervical kyphosis, adopt

  7. Pathogenesis of microbial keratitis.

    Science.gov (United States)

    Lakhundi, Sahreena; Siddiqui, Ruqaiyyah; Khan, Naveed Ahmed

    2017-03-01

    Microbial keratitis is a sight-threatening ocular infection caused by bacteria, fungi, and protist pathogens. Epithelial defects and injuries are key predisposing factors making the eye susceptible to corneal pathogens. Among bacterial pathogens, the most common agents responsible for keratitis include Staphylococcus aureus, Pseudomonas aeruginosa, Streptococcus pneumonia and Serratia species. Fungal agents of corneal infections include both filamentous as well as yeast, including Fusarium, Aspergillus, Phaeohyphomycetes, Curvularia, Paecilomyces, Scedosporium and Candida species, while in protists, Acanthamoeba spp. are responsible for causing ocular disease. Clinical features include redness, pain, tearing, blur vision and inflammation but symptoms vary depending on the causative agent. The underlying molecular mechanisms associated with microbial pathogenesis include virulence factors as well as the host factors that aid in the progression of keratitis, resulting in damage to the ocular tissue. The treatment therefore should focus not only on the elimination of the culprit but also on the neutralization of virulence factors to minimize the damage, in addition to repairing the damaged tissue. A complete understanding of the pathogenesis of microbial keratitis will lead to the rational development of therapeutic interventions. This is a timely review of our current understanding of the advances made in this field in a comprehensible manner. Coupled with the recently available genome sequence information and high throughput genomics technology, and the availability of innovative approaches, this will stimulate interest in this field. Copyright © 2017 Elsevier Ltd. All rights reserved.

  8. Pemphigus: Epidemiology and Pathogenesis

    Directory of Open Access Journals (Sweden)

    Yelda Karıncaoğlu

    2008-08-01

    Full Text Available Pemphigus, a group of bullous diseases affecting the oral mucosa and the skin, is caused by antibody-mediated autoimmune reaction to desmogleins (Dsg, desmosomal transmembrane glycoproteins, leading to acantholysis. Pemphigus has a worldwide distribution but the incidence in patients of Jewish origin is higher. The disease has a peak incidence of occurrence between the 4th and 6th decades. While various environmental factors have been implicated as triggering agents, HLA association is probably the most important predisposing factor. Pemphigus, is caused by antibody-mediated autoimmune reaction to desmosomal cadherins, Dsg1, and Dsg3. Recent molecular studies have shown that acantholysis can occur also in the presence of antibodies against 9a nicotinic acetylcholine receptor. Pemphigus is currently divided into three distinct varieties, i.e., pemphigus vulgaris (PV, pemphigus foliaceus (PF and other variants of pemphigus, depending on clinical features, the level of separation in the epidermis, and immunologic characteristics of auto-antigens. Blistering pathogenesis differ for each of the types of pemphigus. PV is characterized by IgG autoantibodies against Dsg 3, whereas the target of PF is Dsg1, although about 50% of PV patients also have Dsg1 autoantibodies. Lesion distribution is related to the location of the antigen (Dgs 3 and/or Dgs 1 in the epithelium and specific autoantibody production. This article reviews the epidemiology and pathogenesis of pemphigus.

  9. Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

    DEFF Research Database (Denmark)

    Hastings, Rob; Cobben, Jan-Maarten; Gillessen-Kaesbach, Gabriele

    2011-01-01

    Bohring-Opitz syndrome (BOS) is a rare congenital disorder of unknown etiology diagnosed on the basis of distinctive clinical features. We suggest diagnostic criteria for this condition, describe ten previously unreported patients, and update the natural history of four previously reported patien...

  10. Clinical features of 58 Japanese patients with mosaic neurofibromatosis 1.

    Science.gov (United States)

    Tanito, Katsumi; Ota, Arihito; Kamide, Ryoichi; Nakagawa, Hidemi; Niimura, Michihito

    2014-08-01

    Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutation in the NF1 tumor-suppressor gene, and may sometimes manifest in a mosaic form. "Segmental NF1" is generally assumed to be the result of somatic mosaicism for a NF1 mutation, and patients with mosaic NF1 have typical features of NF1 limited to specific body segments. The clinical features of 58 patients (42 females and 16 males; aged 1-69 years; mean age, 23.4 years) with mosaic NF1 seen at the Jikei University Hospital during 2004-2007 and at the Jikei University Daisan Hospital during 2007-2011, were retrospectively studied. Somatic or gonosomal mosaicism was not investigated. Patients were classified into four groups: (i) pigmentary changes (café-au-lait spots and freckling) only (n = 32); (ii) neurofibromas only (n = 5); (iii) neurofibromas and pigmentary changes (n = 13); and (iv) solitary plexiform neurofibromas (n = 8). The area of involvement was variable. The majority of patients were asymptomatic, except patients with plexiform neurofibromas who presented most commonly with pain or tenderness. Lisch nodules were rarely seen. Only four of our 58 patients (6.9%) had specific NF1 complications, including language delay (n = 1) and bone deformity (n = 3). Two patients were ascertained through their children with generalized NF1. Patients with mosaic NF1 are at low risk of developing disease-associated complications, except patients with plexiform neurofibromas. However, they need to be aware of the small risk of having a child with generalized NF1. © 2014 Japanese Dermatological Association.

  11. Systemic thromboembolism in endomyocardial fibrosis (EMF): clinical observations, aetio-pathogenesis and treatment.

    Science.gov (United States)

    Andy, J J; Ekott, J U; Ansa, V O

    2010-09-01

    Mural thrombi and thromboemboli are very common in idiopathic hypereosinophilic syndrome (HES), whose cardiac pathology is indistinguishable from endomyocardial fibrosis (EMF). Although mural thrombi are common in EMF cases, and post mortem embolic infarcts are frequently seen; clinical recognition of thromboembolism in EMF is unusual. We report here 4 cases of clinically recognized thromboembolism among 106 consecutive cases of EMF (including a case with a sudden onset of vascular occlusion and a below knee infarction and auto-amputation of the right leg). Two of the 4 cases had hypereosinophilia that was probably induced by microfilaria. The mechanisms of mural thrombosis and thromboembolic infarcts in EMF cases are discussed, and the possibility shown that helminth induced eosinophilic myocarditis can induce similar acute mural thrombosis and thromboembolism. The place of anticoagulant therapy in EMF is discussed.

  12. Clinical and epidemiological features of patients with clonorchiasis.

    Science.gov (United States)

    Wang, Ke-Xia; Zhang, Rong-Bo; Cui, Yu-Bao; Tian, Ye; Cai, Ru; Li, Chao-Pin

    2004-02-01

    To study the clinical and epidemiological features of patients with clonorchiasis so as to provide scientific evidences for the diagnosis and prevention of clonorchiasis. Stools from 282 subjects suspected of having clonorchiasis were examined for helminth eggs with modified Kato's thick smear and sedimentation methods, and their sera were tested for HAV-DNA, HBV-DNA, HCV-RNA, HDV-RNA and HEV-RNA with polymerase chain reaction (PCR). Clinical symptoms of patients with clonorchiasis only were analyzed, and their blood samples were tested for circulating antigen (CAg) with Dot-ELISA, eosinophilic granulocyte count, and alanine aminotransferase (ALT). Meanwhile, they were asked to provide data of occupation, eating habit, hygienic habit and knowledge of clonorchiasis. In addition, the ecosystem of the environment in epidemic areas was surveyed. Among the 282 patients, 61 (21.43%) were infected with clonorchis sinensis only, 97 (34.64%) were co-infected with clonorchis sinensis and other pathogens, 92 (32.86%) were infected with hepatitis virus only and 31 (11.07%) neither with clonorchis sinensis nor hepatitis virus. Among the 61 patients with clonorchiasis only, there were 14 (22.95%) subjects with discomfort over hepatic region or epigasfrium, 12 (19.67%) with general malaise or discomfort and inertia in total body, 6 (9.84%) with anorexia, indigestion and nausea, 4 (6.56%) with fever, dizziness and headache (6.56%), and 25 (40.98%) without any symptoms; sixty one (100%) with CAg (+), 98.33% (59/60) with eosinophilic granulocytes increased and 65.00% (39/60) with ALT increased. B-mode ultrasonography revealed 61 cases with dilated and thickened walls of intrahepatic bile duct, and blurred patchy echo acoustic image in liver. Twenty-six cases had stones in the bile duct, 39 cases had slightly enlarged liver with diffuse coarse spots in liver parenchyma. Twenty cases had enlarged gallbladder with thickened coarse wall and image of floating plagues, 9 cases had

  13. Analysis of clinical features and visual outcomes of pars planitis.

    Science.gov (United States)

    Berker, Nilufer; Sen, Emine; Elgin, Ufuk; Atilgan, Cemile Ucgul; Dursun, Erdem; Yilmazbas, Pelin

    2017-04-07

    To evaluate the demographic characteristics, clinical features, treatment and outcomes of patients with pars planitis in a tertiary referral center in Turkey. Medical records of patients with pars planitis were retrospectively reviewed. The data including demographic and ocular features and treatment outcomes were recorded. The distribution of clinical findings and complications were evaluated according to age and gender groups. The changes in final BCVA compared to the initial BCVA were noted. Statistical analysis was performed using SPSS software (Version 18.0, SPSS Inc., Chicago, USA). Twenty-seven patients (54 eyes) were included in this study. 16 patients were male (59.3%), and 11 were female (40.7%). Mean age at diagnosis was 12.84 ± 8.26 (range 4-36) years. Mean follow-up period was 61.3 ± 52.15 (range 9-172) months. Mean BCVA was 0.58 ± 0.36 (range 0.03-1.00) (0.40 ± 0.45 logMAR) at presentation, and 0.81 ± 0.28 (range 0.10-1.00) (0.14 ± 0.27 logMAR) at final visit (P = 0.001). Vitreous inflammation (100%), vitreous haze (92.6%), snowballs (74.1%), snowbanks (66.7%), anterior chamber cells (66.7%) and peripheral retinal vascular sheathing (48.1%) were the most common presentations. Ocular complications included vitreous condensation (51.9%), cystoid macular edema (22.2%), cataract (18.5%), inferior peripheral retinal detachment (11.1%), glaucoma (5.6%) and vitreous hemorrhage (3.7%). Treatments included topical, periocular, intravitreal and systemic corticosteroids, immunosuppressives, peripheral laser photocoagulation and pars plana vitrectomy when needed. Pars planitis is an idiopathic chronic intermediate uveitis mostly affecting children and adolescents. In spite of its chronic nature with high potential of causing ocular complications, adequate treatment and close follow-up lead to favorable visual outcomes.

  14. [The characteristics of clinical features of pulmonary tuberculosis in female].

    Science.gov (United States)

    Matsushita, Y; Ikeda, N; Kurasawa, T; Sato, A; Nakatani, K; Inoue, T; Ikeda, T; Sakatani, M; Kobayashi, C; Ozawa, S; Kanai, K; Suruta, N

    1996-06-01

    We studied the clinical features of culture-positive, previously untreated patients with pulmonary tuberculosis (77 in females and 200 in males), with special reference on the gender differences in clinical features. The mean age was 50.8 y.o. for female and 54.4 y.o. for male, and the age distribution was almost similar to that of newly-registered patients of whole Japan in 1993, namely, small peak in 20s decade and large peaks in the age group over 50 in female, and gradual increase up to 50 years and get to plateau in male. Thirty-nine % in female and fifty-four % in male had various past histories and/or complications which might affect to the deterioration of tuberculosis, such as diabetes mellitus, liver function distress, respiratory failure, malignancy, stomach resection and so on. The rates with each complication were, in general, higher in male than in female. The positive rate to Mantoux reaction was higher in female than in male, and stronger reactions were observed in female than in male. According to the classification of pulmonary tuberculosis designed by the Japanese Society for Tuberculosis (GAKKAI classification), the site(s) of affected lung, the stage and the extent of lesions were more advanced in male than in female, and the positive rate and the amount of bacilli on smear were higher in male than in female. The most marked difference was the location of the main lesions, 80% in the apical and posterior segments of upper lobe (S1,2) and 8% in the superior segments of lower lobe (S6) in male, while 60% in S1,2 and 25% in S6 in female. The rate of complete resistance against to anti-tuberculosis agents was higher in male than in female, but the combination chemotherapy of isoniasid and refampicin with streptomycin or ethambutol was almost equally effective both in males and females, and almost all patients converted to bacilli negative within three months after the initiation of the chemotherapy, except in a few male patients.

  15. Clinical features and treatment status of hemifacial spasm in China.

    Science.gov (United States)

    Wang, Lin; Hu, Xingyue; Dong, Hongjuan; Wang, Wenzhao; Huang, Yue; Jin, Lingjing; Luo, Yumin; Zhang, Weixi; Lian, Yajun; Liang, Zhanhua; Shang, Huifang; Feng, Yabo; Wu, Yiwen; Chen, Jun; Luo, Weifeng; Wan, Xinhua

    2014-01-01

    Hemifacial spasm (HFS) is a facial nerve disorder characterized by episodic involuntary ipsilateral facial muscle contraction. Information on Chinese patients with HFS has not been well-characterized. This study aimed to evaluate the clinical feature and the treatment status of HFS across China. A cross-sectional study including 1003 primary HFS patients had been carried out in 15 movement disorder clinics in China in 2012. The investigated information was acquired from questionnaires and medical records including demographic data, site of onset, aggravating and relieving factors, treatments prior to the investigation, etc. In this study, the ratio of male to female was 1.0:1.8, the mean age at onset was (46.6 ± 11.5) years. About 1.0% patients were bilaterally affected. The most often site of initial onset was the orbicularis oculi muscle. The most often affected sites were orbicularis oculi, zygomatic, and orbicularis oris muscles. Stress/anxiety and relaxation were most often aggravating and relieving factors, respectively; 2.3% patients had family history, 28.4% cases were combined with hypertension, and 1.4% patients were with trigeminal neuralgia. Botulinum toxin type A (BTX-A) injection was the most commonly used treatment, followed by acupuncture and oral medication. BTX-A maintained the highest repeat treatment ratio (68.7%), while 98.4% patients gave up acupuncture. The mean latency of BTX-A effect was (5.0 ± 4.7) days, the mean total duration of the effect was (19.5 ± 11.7) weeks, and 95.9% patients developed improvements no worse than moderate in both severity and function. The most common side effect was droopy mouth. The onset age of HFS in China is earlier than that in western countries. The most often used two treatments are BTX-A injection and acupuncture, while the latter kept the poor repeat treatment ratio because of dissatisfactory therapeutic effect.

  16. Age-related distance esotropia: Clinical features and therapeutic outcomes.

    Science.gov (United States)

    Gómez de Liaño Sánchez, P; Olavarri González, G; Merino Sanz, P; Escribano Villafruela, J C

    2016-12-01

    To describe the clinical characteristics and surgical outcomes of a group of patients with age-related distance esotropia (ARDE). A retrospective study was conducted on a consecutive case series of 16 adult patients diagnosed with ARDE between 2008 and 2015. The clinical features evaluated included mean age and gender, primary position deviations at distance and near, measured in prism dioptres (pd), treatment offered in each case, and post-surgical deviations. Ductions and versions were full, with no evidence of lateral rectus paresis. None of these patients had any obvious underlying neurological disorder, such as, high myopia or thyroid disease. A good result is considered to be the disappearance of diplopia in all positions of gaze. A total of 16 patients (11 females [68.8%]) were identified. The mean age at diagnosis was 78.19±6.77 years. The mean initial esodeviation was 2.25±3.08 pd at near (-4 to +8 pd) and 9.5±4.18 pd at distance (2 to 18 pd). Treatment was not necessary in 5 cases because the symptoms were intermittent or well-tolerated. Of the 11 patients with symptoms, one was corrected with an external base therapeutic prism. Botulinum toxin was administered in another patient, without satisfactory results. Unilateral medial rectus muscle recession was performed on one patient, and unilateral lateral rectus plication on 7 patients, indicating prisms before surgery. One patient refused surgery despite continuous diplopia in far vision. After a mean follow-up of 16.5 months, all operated patients were asymptomatic. Not all patients with ARDE require treatment, as the tolerance to diplopia varies from one subject to another. Both medial rectus weakening and lateral rectus strengthening provides excellent results. Crown Copyright © 2016. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Clinical features, management, and prognosis of spontaneous coronary artery dissection.

    Science.gov (United States)

    Tweet, Marysia S; Hayes, Sharonne N; Pitta, Sridevi R; Simari, Robert D; Lerman, Amir; Lennon, Ryan J; Gersh, Bernard J; Khambatta, Sherezade; Best, Patricia J M; Rihal, Charanjit S; Gulati, Rajiv

    2012-07-31

    Spontaneous coronary artery dissection (SCAD) is an acute coronary event of uncertain origin. Clinical features and prognosis remain insufficiently characterized. A retrospective single-center cohort study identified 87 patients with angiographically confirmed SCAD. Incidence, clinical characteristics, treatment modalities, in-hospital outcomes, and long-term risk of SCAD recurrence or major adverse cardiac events were evaluated. Mean age was 42.6 years; 82% were female. Extreme exertion at SCAD onset was more frequent in men (7 of 16 versus 2 of 71; P<0.001), and postpartum status was observed in 13 of 71 women (18%). Presentation was ST-elevation myocardial infarction in 49%. Multivessel SCAD was found in 23%. Initial conservative management (31 of 87) and coronary artery bypass grafting (7 of 87) were associated with an uncomplicated in-hospital course, whereas percutaneous coronary intervention was complicated by technical failure in 15 of 43 patients (35%) and 1 death. During a median follow-up of 47 months (interquartile range, 18-106 months), SCAD recurred in 15 patients, all female. Estimated 10-year rate of major adverse cardiac events (death, heart failure, myocardial infarction, and SCAD recurrence) was 47%. Fibromuscular dysplasia of the iliac artery was identified incidentally in 8 of 16 femoral angiograms (50%) undertaken before closure device placement and in the carotid arteries of 2 others with carotid dissection. SCAD affects a young, predominantly female population, frequently presenting as ST-elevation myocardial infarction. Although in-hospital mortality is low regardless of initial treatment, percutaneous coronary intervention is associated with high rates of complication. Risks of SCAD recurrence and major adverse cardiac events in the long term emphasize the need for close follow-up. Fibromuscular dysplasia is a novel association and potentially causative factor.

  18. Clinical features and psychiatric comorbidity of epicrania fugax

    Directory of Open Access Journals (Sweden)

    K Rammohan

    2018-01-01

    Full Text Available Background: Epicrania fugax (EF is a rare newly described primary headache characterized by paroxysms of unilateral pain radiating across one hemicranium. Aim: We aimed to describe 10 new cases of EF and assess the psychiatric comorbidity. Materials and Methods: Cases of EF were identified from patients attending the neurology outpatient department of a tertiary level referral and teaching hospital by the first author during a period extending from January 1, 2015 to April 31, 2017. Case ascertainment was done as per ICHD 3 beta criteria from among patients presenting with complaints of headache after detailed history and clinical examination. Clinical and demographic features were noted and patients were subjected to Mini Neuropsychiatric Interview to screen for psychiatric comorbidity followed by Becks Anxiety/Depression Inventory. Results: A total of 10 subjects were obtained during the study period, 4 males, and 6 females. Mean age of subjects was 45.3 years (standard deviation-10. Seventy percent had anteroposterior, and 30% had posteroanterior radiation of pain. The most common character of pain was stabbing (50% followed by electrical (40% and pressing (10%. None of the subjects had autonomic symptoms or focal symptoms in the scalp while 30% subjects had hyperesthesia in the affected area of the scalp.Six subjects (60% patients had episodic course while 40% had chronic course. Sixty percent had comorbid anxiety while one (10% had comorbid depression. A significant relation was obtained between duration of disease and occurrence of anxiety as well as Becks Anxiety Inventory scores while there was no correlation with attack duration. There was also a nonsignificant correlation between visual analog score and occurrence of anxiety symptoms. Conclusions: Our study conclusively proves the existence of EF as a rare, distinct primary headache syndrome in our study population. It has a significant psychiatric comorbidity consisting of 60% of

  19. Focal choroidal excavation-morphological features and clinical correlation.

    Science.gov (United States)

    Chung, C Y; Li, S H; Li, K K W

    2017-09-01

    PurposeTo describe and correlate the morphological and clinical features of focal choroidal excavation (FCE).MethodsThis is a consecutive case series from the review of the 4436 optical coherence tomography scans performed by Kowloon East Cluster Ophthalmic Service from 1 August 2014-31 January 2016. Statistical analysis was performed on SPSS 18.0 (SPSS, Chicago, IL, USA). A significance level of P<0.05 was taken.ResultsAll 16 patients with FCE had unilateral involvement. The mean age of diagnosis was 52.56±14.00. The mean greatest linear dimension (GLD) of FCE was 636.25±265.11 μm. The mean choroidal thickness was 183.63±52.39 μm. Fourteen FCEs (87.5%) were conforming and two were non-conforming (12.5%). In the eyes with FCE, concurrent macular pathology was present in four cases (25.0%). Tractional pathologies of macular pucker and macular scar corresponded to the two non-conforming FCEs in the series. Polypoidal choroidal vasculopathy (PCV) and lacquer crack had a close topographic relationship with the FCE. The mean GLD was significantly larger in eyes with concurrent macular pathology than those without (878.00 vs 555.67 μm, P=0.029). In the fellow eyes, concurrent macular pathology was present in 5 cases (31.3%): PCV in 3 cases and chronic central serous chorioretinopathy in 2 cases.ConclusionAs a significant proportion of FCE is associated with concurrent macular pathology in the involved or fellow eye, angiography for both eyes is recommended even for asymptomatic cases. The GLD of FCE may have clinical value in risk stratification.

  20. Clinical features of cervical pyogenic spondylitis and intraspinal abscess.

    Science.gov (United States)

    Miyazaki, Masashi; Yoshiiwa, Toyomi; Kodera, Ryuzo; Tsumura, Hiroshi

    2011-10-01

    Retrospective study. The purpose of the present study was to elucidate the clinical features of cervical pyogenic spondylitis and intraspinal abscess and to use this knowledge for early diagnosis and treatment. Cervical pyogenic spondylitis and intraspinal abscess are relatively rare diseases in which accurate diagnosis is difficult at early stage. However, because both diseases can cause severe paralysis and vital crisis at advanced stages, early diagnosis and treatment are very important. Fourteen patients (men: 9, women: 5; average age at treatment: 65.4 y; age range: 49-89 y) with cervical pyogenic spondylitis and/or intraspinal abscess were treated in our hospital. We analyzed their initial symptoms, initial diagnosis, duration between the appearance of initial symptoms and final diagnosis, symptoms at final diagnosis, level of the affected cervical spine, predisposing factors, organisms, and treatments. Initial symptoms included neck pain with fever (n=7), neck pain without fever (n=3), pharyngeal pain with fever (n=1), muscle weakness in both the upper and lower extremities (n=1), gait disturbance (n=1), and numbness of the lower extremities (n=1). Patients were initially diagnosed with meningitis (n=4), fever of unknown origin (n=2), cervical spondylosis (n=2), polymyalgia rheumatica (n=1), upper respiratory tract inflammation (n=1), metastatic spinal tumor (n=1), cervical spondylotic myelopathy (n=1), and cervical disc herniation (n=1). Of the 14 patients, 1 was correctly diagnosed with cervical pyogenic spondylitis. The initial symptoms of cervical pyogenic spondylitis and intraspinal abscess varied and neck pain with fever was not essential. Therefore, doctors should consider the possibility of cervical pyogenic spondylitis and repeat the assessments of the clinical examination for early diagnosis of this disease.

  1. Clinical Features and Outcomes of Pasteurella multocida Infection.

    Science.gov (United States)

    Giordano, Antonio; Dincman, Toros; Clyburn, Benjamin E; Steed, Lisa L; Rockey, Don C

    2015-09-01

    Pasteurella multocida, a zoonotic infectious organism, has most often been described in patients after an animal bite. Here, we characterize the clinical features and outcomes of P multocida infection in a large cohort of patients according to the presence or absence of an animal bite.We retrospectively searched MUSC's laboratory information system for all patients with positive P multocida cultures from 2000 to 2014. Extensive data were abstracted, including clinical and outcome data. The Charlson comorbidity index (CCI) was used to assess comorbidities among patients.We identified 44 patients with P multocida infections, including 25 with an animal bite. The average age was 64 years and the majority of patients were women (N = 30). There was no difference in age and sex distribution among those with and without a bite (P = 0.38 and 0.75, respectively). A CCI ≥1 was significantly associated with the absence of a bite (P = 0.006). Patients presenting without a bite were more frequently bacteremic (37% vs 4%, respectively, P = 0.001), and were hospitalized more often (84% vs 44%, respectively, P = 0.012). Of the 8 patients who required intensive care unit (ICU)-based care, 7 were non-bite-related. There were 4 deaths, all occurring in patients not bitten.P multocida infections not associated with an animal bite were often associated with bacteremia, severe comorbidity(ies), immune-incompetent states, the need for ICU management, and were associated with substantial mortality.

  2. Clinical and Treatment Features of Orbital Neurogenic Tumors

    Directory of Open Access Journals (Sweden)

    Pınar Bingöl Kızıltunç

    2013-10-01

    Full Text Available Purpose: To evaluate the clinical and treatment features of orbital neurogenic tumors. Material and Method: The records of 35 patients with orbital neurogenic tumors who were diagnosed and treated at Ankara University Faculty of Medicine, Department of Ophthalmology, between 1998 and 2011 were evaluated retrospectively. Results: Orbitotomy via a cutaneous approach was performed in 21 (60% cases and orbitotomy via a transconjunctival approach was performed in 7 (20% cases. Three (8% cases had been operated at different centers. Four (12% cases were diagnosed clinically. Total excisional biopsy was performed in 11 (31.4% cases, subtotal excisional biopsy was performed in 7 (20%, and incisional biopsy was performed in 10 (28.6% cases. 14 (40% 35 cases were diagnosed as meningioma, 12 (34% as peripheral nerve sheath tumor, and 9 (26% cases were diagnosed as optic nerve glioma. Six (43% meningioma cases were optic nerve sheath meningioma, 5 (36% were sphenoid wing meningioma, 2 (14% were ectopic meningioma, and 1 (7% was perisellar meningioma. Six (50% of peripheral nerve sheath tumors were schwannoma, 2 (16% were solitary neurofibroma, 4 (34% were plexiform neurofibroma. External beam radiotherapy was performed in 15 (42.8% cases, cyberknife radiosurgery in 1 (2.8% , chemotherapy in 1 (2.8%, and enucleation ( because of neovascular glaucoma and vitreous hemorrhage was performed in 1 (2.8% case. Discussion: The most common orbital neurogenic tumors are meningioma, peripheral nerve sheath tumor, and optic nerve glioma. For meningioma and glioma, external beam radiotherapy is required; for schwannoma and solitary neurofibroma, total excisional biopsy is the preferred treatment. The success of visual and anatomic results are high after treatment. (Turk J Ophthalmol 2013; 43: 335-9

  3. Visible aging signs as risk markers for ischemic heart disease: Epidemiology, pathogenesis and clinical implications.

    Science.gov (United States)

    Christoffersen, Mette; Tybjærg-Hansen, Anne

    2016-01-01

    Association of common aging signs (i.e., male pattern baldness, hair graying, and facial wrinkles) as well as other age-related appearance factors (i.e., arcus corneae, xanthelasmata, and earlobe crease) with increased risk of ischemic heart disease was initially described in anecdotal reports from clinicians observing trends in the physical appearance of patients with ischemic heart disease. Following these early observations numerous epidemiological studies have reported these associations. Since the prevalences of both visible aging signs and ischemic heart disease have a strong correlation with increasing age, it has been extensively debated whether the observed associations could be entirely explained by a common association with age. Furthermore, the etiologies of the visible aging signs are rarely fully understood, and pathophysiological explanations for these associations remain controversial, and are mostly speculative. As a consequence of inconsistent findings and lack of mechanistic explanations for the observed associations with ischemic heart disease, consensus on the clinical importance of these visible aging signs has been lacking. The aim of this review is for each of the visible aging signs to (i) review the etiology, (ii) to discuss the current epidemiological evidence for an association with risk of ischemic heart disease, and (iii) to present possible pathophysiological explanations for these associations. Finally this review discusses the potential clinical implications of these findings. Copyright © 2015 Elsevier B.V. All rights reserved.

  4. Skin Lesions in Swine with Decompression Sickness: Clinical Appearance and Pathogenesis

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    Long Qing

    2017-07-01

    Full Text Available Skin lesions are visual clinical manifestations of decompression sickness (DCS. Comprehensive knowledge of skin lesions would give simple but strong clinical evidence to help diagnose DCS. The aim of this study was to systematically depict skin lesions and explore their pathophysiological basis in a swine DCS model. Thirteen Bama swine underwent simulated diving in a hyperbaric animal chamber with the profile of 40 msw-35 min exposure, followed by decompression in 11 min. After decompression, chronological changes in the appearance of skin lesions, skin ultrasound, temperature, tissue nitric oxide (NO levels, and histopathology were studied. Meanwhile bubbles and central nervous system (CNS function were monitored. All animals developed skin lesions and two died abruptly possibly due to cardiopulmonary failure. A staging approach was developed to divide the appearance into six consecutive stages, which could help diagnosing the progress of skin lesions. Bubbles were only seen in right but not left heart chambers. There were strong correlations between bubble load, lesion area, latency to lesion appearance and existence of cutaneous lesions (P = 0.007, P = 0.002, P = 0.004, respectively. Even though local skin temperature did not change significantly, skin thickness increased, NO elevated and histological changes were observed. Increased vessel echo-reflectors in lesion areas were detected ultrasonically. No CNS dysfunction was detected by treadmill walking and evoked potential. The present results suggest skin lesions mainly result from local bubbles and not CNS injuries or arterial bubbles.

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

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    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.

  6. Clinical Features of Functional Dyspepsia in Combination with Bronchial Asthma

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    M.V. Rostoka-Reznikova

    2015-03-01

    Full Text Available The objective of the study was to determine the clinical features of dyspepsia in case of combination with bronchial asthma. We examined 152 patients with functional dyspepsia, 102 of them were diagnosed with bronchial asthma. In patients with functional dyspepsia combined with bronchial asthma we detected worsening of functional dyspepsia (significantly higher levels of epigastric pain, feeling of fullness after eating and nausea and significant gender differences of its course in comparison with patients with functional dyspepsia without bronchial asthma. There was a significant prevalence of postprandial distress syndrome in women vs. men with functional dyspepsia and bronchial asthma. Among women in this group, there were also a higher rates of dyspeptic complaints generally and pain syndrome particularly, with more significant polymorphism of complaints in terms of pain nature (fasting pain and night pain, pain through the abdomen and/or with radiation to the back, the connection with spicy food and psychoemotional stress, whereas men from this group significantly more often complained only of the limosis.

  7. Clinical and radiologic features of submandibular triangle hemangioma.

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    Cho, Jung-Hae; Nam, In-Chul; Park, Jun-Ook; Kim, Min-Sik; Sun, Dong-Il

    2012-07-01

    The clinical and radiologic features of submandibular triangle hemangioma have not been systematically reported. Hemangiomas in the submandibular triangle are very rare and are often misdiagnosed as other benign cystic masses or inflammatory conditions. We retrospectively reviewed the medical records of 5 patients who underwent surgery for submandibular triangle hemangioma between January 2006 and April 2011. All patients presented with fluctuating swelling with or without pain in the submandibular triangle. Computed tomographic (CT) scans showed cystic masses around the submandibular glands and calcified nodules in the lesions. Ill-defined vascular lesions and variably sized hard nodules were identified during surgery. Bleeding was controlled by early ligation of feeding vessels. The submandibular gland was removed for surgical exposure in 4 patients. Pathologic review of each specimen revealed that all were cavernous hemangiomas with thrombosis and phleboliths. Complications included 1 temporary marginal mandibular nerve paresis and 1 postoperative hematoma. No recurrence after surgery was seen during a follow-up period of 4 to 52 months. The possibility of submandibular triangle hemangioma should first be considered when a cystic mass around the submandibular gland and multiple calcifications are present on CT. Ligation of feeding vessels and resection of the submandibular gland may be needed to obtain surgical exposure and prevent massive bleeding.

  8. Clinical and histological features of nonalcoholic steatohepatitis in Iranian patients

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    Haghpanah Babak

    2003-10-01

    Full Text Available Abstract Background Although several studies have been performed on risk factors and natural course of NASH, it seems that NASH tends to be more than a disease confined to strict boundaries. The objective of this study was to assess the clinical and paraclinical features and risk factors for non-alcoholic steatohepatitis (NASH patients in an Iranian population Methods Patients with histologically confirmed NASH who had elevated liver aminotransaminases, negative serologic markers of viral or autoimmune hepatitis and no findings in favor of metabolic liver disease were enrolled. A careful history was taken regarding alcohol intake. Results 53 patients consisting of 32 male and 21 female entered the study. The mean age was 37.8 ± 11.3 years. Twenty-six patients (55.3% were overweight, 15 (31.9% obese, 40 (75.5% dyslipidemic, and three patients (5.7% were diabetic. Liver biopsy showed mild steatosis in 35.7%, moderate steatosis in 53.6%, and severe forms in 10.7%. In 80.2% of patients, portal inflammation was present, and 9.4% had cirrhosis. The amount of increase in liver enzymes bore no relationship with fibrosis, portal inflammation, and degree of steatosis. Conclusions The patients in our study showed a male predominancy and were somewhat younger than other studies.

  9. Clinical and neurocognitive features of the post Lyme syndrome.

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    Bujak, D I; Weinstein, A; Dornbush, R L

    1996-08-01

    To evaluate neurocognitive impairment in patients with persistent arthralgia, fatigue, and subjective memory loss in patients after Lyme disease (post-Lyme syndrome, PLS). We compared the clinical, neurocognitive, and psychological features of 23 patients with PLS to 23 age, sex, and education matched recovered patients (REC). All met Centers for Disease Control criteria for Lyme disease, were ELISA positive at onset of Lyme disease and were previously treated with standard antibiotic regimens. Of the patients with PLS, 7 (30%) had fibromyalgia (FM), 3 (13%) had chronic fatigue syndrome, and 10 (43%) had similar but milder symptoms but did not meet the criteria for either. 22 of 23 patients with PLS complained of decreased memory or concentration problems. Patients with PLS had significantly lower scores on the attention/concentration scale (p = 0.012) of the Wechsler Memory Scale-Revised (WMS-R), indicating lowered attention/concentration. 52% of patients with PLS and 35% in the REC group had significantly lower (p treatment, a sequelae of Lyme disease may be a PLS characterized by persistent arthralgia, fatigue, and neurocognitive impairment that is probably induced by Lyme disease.

  10. Clinical and genetic features of human metapneumovirus infection in children.

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    Park, Ji Young; Yun, Ki Wook; Lim, Jae Woo; Lee, Mi Kyung; Lim, In Seok; Choi, Eung Sang

    2016-01-01

    Human metapneumovirus (hMPV) is one of the main pathogens responsible for respiratory tract infection in children. From 2011 to 2013, nasopharyngeal aspirates were obtained from Korean children and tested for hMPV on reverse transcription-polymerase chain reaction (RT-PCR). The genotype of hMPV in each sample was identified on PCR-restriction length polymorphism analysis of the fusion gene. We divided patients into three groups according to degree of fever. Patients with fever peaking at >39.5°C or lasting >7 days were classified as the high fever (HF) group; those with fevers peaking at features of hMPV infection were compared between the HF and LF groups. We classified 80 subjects into the HF group and 84 subjects into the LF group. Mean absolute neutrophil count (5625 ± 4418 vs 4072 ± 3076/μL, P = 0.010) and C-reactive protein (2.39 ± 3.39 vs 0.96 ± 1.77 mg/dL, P = 0.001) were higher in the HF group. Wheezing (5.0% vs 32.1%, P < 0.001) and dyspnea (2.5% vs 15.5%, P = 0.010) were more frequently seen in the LF group. Genotype distribution was similar in the two groups. Two distinct clinical presentations of hMPV infection were identified in this study. © 2015 Japan Pediatric Society.

  11. Recurrent Miller Fisher syndrome: clinical and laboratory features.

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    Heckmann, J G; Dütsch, M

    2012-07-01

    To present two patients with Miller Fisher syndrome (MFS) recurrence after 35 and 44 years and review of the literature on recurring MFS. All identified cases with recurrent MFS were evaluated. Age, gender, clinical features of first and recurrent MFS, course of disease, laboratory findings, therapy and outcome were transformed into tables. Twenty-eight patients (16 men, 12 women; mean age at the first episode 34 years (range 13-57 years); mean age at the latest episode 47 years (range 21-66 years) with a total of 70 MFS episodes were identified. Twenty-one patients had a single recurrence, five patients had two recurrences, one patient had four recurrences and one patient had seven recurrences. The mean interval between attacks was 9.45 years (3 months to 44 years). In 76% of the initial episodes and in 81% of the recurrent episodes, an infectious disease preceded MFS. Additional facial and bulbar symptoms and autonomic disturbances were frequent findings. Cerebrospinal fluid (CSF) and electrodiagnostic findings were unspecific. If tested, autoantibodies against GQ1b had been positive in all episodes. In about half of the patients, immunotherapy was applied. The outcome was favourable in most patients. Recurrence of MFS is a rare quite uniform condition with a mostly favourable prognosis. © 2011 The Author(s) European Journal of Neurology © 2011 EFNS.

  12. Clinical Features and Outcomes Differ between Skeletal and Extraskeletal Osteosarcoma

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    Sheila Thampi

    2014-01-01

    Full Text Available Background. Extraskeletal osteosarcoma (ESOS is a rare subtype of osteosarcoma. We investigated patient characteristics, overall survival, and prognostic factors in ESOS. Methods. We identified cases of high-grade osteosarcoma with known tissue of origin in the Surveillance, Epidemiology, and End Results database from 1973 to 2009. Demographics were compared using univariate tests. Overall survival was compared with log-rank tests and multivariate analysis using Cox proportional hazards methods. Results. 256/4,173 (6% patients with high-grade osteosarcoma had ESOS. Patients with ESOS were older, were more likely to have an axial tumor and regional lymph node involvement, and were female. Multivariate analysis showed ESOS to be favorable after controlling for stage, age, tumor site, gender, and year of diagnosis [hazard ratio 0.75 (95% CI 0.62 to 0.90; p=0.002]. There was an interaction between age and tissue of origin such that older patients with ESOS had superior outcomes compared to older patients with skeletal osteosarcoma. Adverse prognostic factors in ESOS included metastatic disease, larger tumor size, older age, and axial tumor site. Conclusion. Patients with ESOS have distinct clinical features but similar prognostic factors compared to skeletal osteosarcoma. Older patients with ESOS have superior outcomes compared to older patients with skeletal osteosarcoma.

  13. [The clinical features of indium-related lung diseases].

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    Guo, Kongrong; Liu, Jia; Zhang, Jingbo; Sun, Daoyuan

    2015-08-01

    To discuss the clinical features of Indium-related lung diseases. We searched database of Chinese and Pubmed, Embase, Web of Science to collect research data of indium-related lung diseases from Jan. 1998 to Aprl. 2014. Case reports, exposure histories and lab results were analysed and summarized. 1998 to Mar 2010, ten cases of indium-related lung diseases were published. Seven cases of interstitial pneumonia were reported in Japan, two cases of pulmonary alveolar proteinosis (PAP) were reported in the USA and one case of PAP reported in China. Chest computer tomography (CT) showed diffuse or local ground glass appearance (GGA) in 8 cases, 3 of which also showed centrilobular nodules; Pulmonary function test were normal only in one out of 8 cases. Cholesterol clefts were found in 4 cases of interstitial pneumonia. 3 cases died among 6 cases who were followed-up. Occupational exposure to indium compounds are contributory to different pulmonary diseases, which are composed of interstitial pneumonia and pulmonary alveolar proteinosis. The relationships between In-C, In-S and these pulmonary diseases are unclear.

  14. The clinical features and treatment of pediatric intracranial aneurysm.

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    Liang, Jiantao; Bao, Yuhai; Zhang, Hongqi; Wrede, Karsten Henning; Zhi, Xinglong; Li, Meng; Ling, Feng

    2009-03-01

    Intracranial aneurysms are relatively rare in the pediatric population. The objective of this study was to highlight the clinical and radiological features and the therapeutic outcome and clarify the choice of therapeutic strategies for pediatric intracranial aneurysms. Twenty-four consecutive children (age aneurysms in our institute in the last 23 years were included in this study. There were nine (36%) patients with posterior circulation aneurysms and eight (32%) with giant aneurysms. Eleven (46%) patients presented with subarachnoid hemorrhage. Fifteen patients underwent endovascular treatment, and four received microsurgical therapy. Five patients were treated conservatively. Ninety-two percent (n=22) of the patients showed favorable outcomes. Pediatric intracranial aneurysms differ in many ways from those in adults: male predominance; high incidence of giant, dissecting, and fusiform aneurysms; high incidence of aneurysms in the posterior circulation; high incidence of spontaneous thrombosis; better Hunt-Hess grades at presentation; and better therapeutic outcome. For children with intracranial aneurysms, both microsurgical approaches and endovascular treatment were effective. For many complex aneurysms, endovascular therapy was the best choice.

  15. Glutaric aciduria type 1: neuroimaging features with clinical correlation

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    Mohammad, Shaimaa Abdelsattar; Ahmed, Khaled A. [Ain-Shams University, Department of Radiodiagnosis, Faculty of Medicine, Cairo (Egypt); Abdelkhalek, Heba Salah; Zaki, Osama K. [Ain-Shams University, Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Cairo (Egypt)

    2015-10-15

    Glutaric aciduria type 1 is a rare neurometabolic disease with high morbidity. To describe the MR imaging abnormalities in glutaric aciduria type 1 and to identify any association between the clinical and imaging features. MRI scans of 29 children (mean age: 16.9 months) with confirmed diagnosis of glutaric aciduria type 1 were retrospectively reviewed. Gray matter and white matter scores were calculated based on a previously published pattern-recognition approach of assessing leukoencephalopathies. Hippocampal formation and opercular topography were assessed in relation to the known embryological basis. MRI scores were correlated with morbidity score. The most consistent MRI abnormality was widened operculum with dilatation of the subarachnoid spaces surrounding underdeveloped frontotemporal lobes. Incomplete hippocampal inversion was also seen. The globus pallidus was the most frequently involved gray matter structure (86%). In addition to the central tegmental tract, white matter abnormalities preferentially involved the central and periventricular regions. The morbidity score correlated with the gray matter abnormality score (P = 0.004). Patients with dystonia had higher gray matter and morbidity scores. Morbidity is significantly correlated with abnormality of gray matter, rather than white matter, whether secondary to acute encephalopathic crisis or insidious onset disease. (orig.)

  16. Pathogenesis of percutaneous infection of goats with Burkholderia pseudomallei: clinical, pathologic, and immunological responses in chronic melioidosis

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    Soffler, Carl; Bosco-Lauth, Angela M; Aboellail, Tawfik A; Marolf, Angela J; Bowen, Richard A

    2014-01-01

    Melioidosis is a severe suppurative to granulomatous infection caused by Burkholderia pseudomallei. The disease is endemic to South-East Asia and Northern Australasia and is also of interest as a potential biological weapon. Natural infection can occur by percutaneous inoculation, inhalation or ingestion, but the relative importance of each route is unknown. Experimental infection models using mice have shown inhalation to be the most lethal route of exposure, but few studies have examined the pathogenesis of percutaneous infection despite its presumptive importance in natural disease. Caprine models are useful in the study of melioidosis because goats are susceptible to natural infection by B. pseudomallei, display similar epizootiology/epidemiology to that of humans within the endemic range and develop similar pathologic lesions. Percutaneous inoculation with 104 CFU of B. pseudomallei produced disease in all experimental animals with rapid dissemination to the lungs, spleen and kidneys. Initial fever was brief, but temperatures did not return to pre-infection levels until day 18, concurrent with a dramatic lymphocytosis and the transition to chronic disease. Distribution and appearance of gross pathologic and radiographic lesions in goats were similar to caprine aerosol infection and to reported human disease. The similarities seen despite different routes of infection suggest that host or bacterial factors may be more important than the route of infection in disease pathogenesis. The nature of melioidosis in goats makes it amenable for modelling additional risk factors to produce acute clinical disease, which is important to the study of human melioidosis. PMID:24571408

  17. Clinical, epidemiologic, histopathologic and molecular features of an unexplained dermopathy.

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    Pearson, Michele L; Selby, Joseph V; Katz, Kenneth A; Cantrell, Virginia; Braden, Christopher R; Parise, Monica E; Paddock, Christopher D; Lewin-Smith, Michael R; Kalasinsky, Victor F; Goldstein, Felicia C; Hightower, Allen W; Papier, Arthur; Lewis, Brian; Motipara, Sarita; Eberhard, Mark L

    2012-01-01

    Morgellons is a poorly characterized constellation of symptoms, with the primary manifestations involving the skin. We conducted an investigation of this unexplained dermopathy to characterize the clinical and epidemiologic features and explore potential etiologies. A descriptive study was conducted among persons at least 13 years of age and enrolled in Kaiser Permanente Northern California (KPNC) during 2006-2008. A case was defined as the self-reported emergence of fibers or materials from the skin accompanied by skin lesions and/or disturbing skin sensations. We collected detailed epidemiologic data, performed clinical evaluations and geospatial analyses and analyzed materials collected from participants' skin. We identified 115 case-patients. The prevalence was 3.65 (95% CI = 2.98, 4.40) cases per 100,000 enrollees. There was no clustering of cases within the 13-county KPNC catchment area (p = .113). Case-patients had a median age of 52 years (range: 17-93) and were primarily female (77%) and Caucasian (77%). Multi-system complaints were common; 70% reported chronic fatigue and 54% rated their overall health as fair or poor with mean Physical Component Scores and Mental Component Scores of 36.63 (SD = 12.9) and 35.45 (SD = 12.89), respectively. Cognitive deficits were detected in 59% of case-patients and 63% had evidence of clinically significant somatic complaints; 50% had drugs detected in hair samples and 78% reported exposure to solvents. Solar elastosis was the most common histopathologic abnormality (51% of biopsies); skin lesions were most consistent with arthropod bites or chronic excoriations. No parasites or mycobacteria were detected. Most materials collected from participants' skin were composed of cellulose, likely of cotton origin. This unexplained dermopathy was rare among this population of Northern California residents, but associated with significantly reduced health-related quality of life. No common underlying medical

  18. Clinical, epidemiologic, histopathologic and molecular features of an unexplained dermopathy.

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    Michele L Pearson

    Full Text Available BACKGROUND: Morgellons is a poorly characterized constellation of symptoms, with the primary manifestations involving the skin. We conducted an investigation of this unexplained dermopathy to characterize the clinical and epidemiologic features and explore potential etiologies. METHODS: A descriptive study was conducted among persons at least 13 years of age and enrolled in Kaiser Permanente Northern California (KPNC during 2006-2008. A case was defined as the self-reported emergence of fibers or materials from the skin accompanied by skin lesions and/or disturbing skin sensations. We collected detailed epidemiologic data, performed clinical evaluations and geospatial analyses and analyzed materials collected from participants' skin. RESULTS: We identified 115 case-patients. The prevalence was 3.65 (95% CI = 2.98, 4.40 cases per 100,000 enrollees. There was no clustering of cases within the 13-county KPNC catchment area (p = .113. Case-patients had a median age of 52 years (range: 17-93 and were primarily female (77% and Caucasian (77%. Multi-system complaints were common; 70% reported chronic fatigue and 54% rated their overall health as fair or poor with mean Physical Component Scores and Mental Component Scores of 36.63 (SD = 12.9 and 35.45 (SD = 12.89, respectively. Cognitive deficits were detected in 59% of case-patients and 63% had evidence of clinically significant somatic complaints; 50% had drugs detected in hair samples and 78% reported exposure to solvents. Solar elastosis was the most common histopathologic abnormality (51% of biopsies; skin lesions were most consistent with arthropod bites or chronic excoriations. No parasites or mycobacteria were detected. Most materials collected from participants' skin were composed of cellulose, likely of cotton origin. CONCLUSIONS: This unexplained dermopathy was rare among this population of Northern California residents, but associated with significantly reduced health

  19. [Clinical and pathological features in children with progressive muscular dystrophy].

    Science.gov (United States)

    Cheng, Sheng-Quan; Qiang, Huan; Cao, Yu-Hong; Li, Qin-Long; Chen, Cai-Ping

    2013-08-01

    To investigate the clinical and pathological features of progressive muscular dystrophy (PMD) in children and to provide help for the early and accurate diagnosis of PMD. Retrospective analysis was performed on the clinical data of 99 hospitalized children with PMD, including clinical manifestations, age of onset, family history, creatase, electromyogram (EMG) and pathological changes of muscles. Of the 99 children with PMD, the age of onset was 0.5-14.5 (4.7 ± 3.1) years. Eleven cases (11%) had a family history of PMD. Twenty-six (26%) were misdiagnosed as other diseases. All patients presented with muscle weakness when seeing the doctor, and 66 (67%) of them had muscle atrophy and/or hypertrophy. All patients had elevated creatine kinase (CK) levels. The 2-7-year-old group (n=51) had a mean CK level of 9965 ± 8876 U/L, and the 7-15-year-old group (n=48) had a mean CK level of 5110 ± 4498 U/L, with a significant difference between the two groups (Patrophy and hypertrophy of muscle fibers, hyaline degeneration and granular degeneration. Electron microscopy showed that muscle fibers were different in thickness, some atrophic or hypertrophic; muscle cell nuclei moved inwardly, myofilaments dissolved and disappeared mildly under the sarcolemma, there were scattered melting lesions within muscle fibers, the numbers of glycogen granules and mitochondria increased, mild hyperplasia and expansion of sarcoplasmic reticulum were seen, and a small number of muscle fibers had necrosis. Weakness of both lower extremities remains the main reason for PMD patients seeing the doctor. CK is the main laboratory indicator for diagnosis of PMD. PMD is mainly manifested as myogenic damage in the early stage and may be accompanied by neurogenic damage in the late stage, according to the EMG examination. With a high misdiagnosis rate, PMD may be misdiagnosed as many other diseases. Pathological examination under light microscope and electron microscope is the main means for confirming

  20. Possible role of apoptosis in the pathogenesis and clinical evolution of radicular cyst: an immunohistochemical study.

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    Loreto, C; Galanti, C; Leonardi, R; Musumeci, G; Pannone, G; Palazzo, G; Rusu, M C

    2013-07-01

    To investigate whether the apoptotic cascade is activated through the extrinsic pathway in epithelial lining and connective tissue of radicular cysts. Fifteen radicular cysts were fixed in formalin, embedded in paraffin wax and processed for immunohistochemistry to evaluate the expression of polyclonal antibodies against Tumour necrosis factor-related apoptosis-inducing ligand (TRAIL), DR5 and caspase-3. Immunocomplexes were treated with the secondary antibodies and finally detected using the avidin-biotin-peroxidase complex. Immunoreactivity was visualized by development with 3,3'-diaminobenzidine. Data were analysed using the Mann-Whitney U-test; P radicular cysts; TRAIL and DR5 immunoexpression was significantly greater (P radicular cysts, demonstrated by the immunoexpression patterns of TRAIL, DR5 and caspase-3 in lining epithelium and connective tissue, may explain their bland clinical aggressiveness and slow, benign evolution. © 2012 International Endodontic Journal. Published by John Wiley & Sons Ltd.

  1. Genetics of Type 2 Diabetes: Insights into the Pathogenesis and Its Clinical Application

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    Xue Sun

    2014-01-01

    Full Text Available With rapidly increasing prevalence, diabetes has become one of the major causes of mortality worldwide. According to the latest studies, genetic information makes substantial contributions towards the prediction of diabetes risk and individualized antidiabetic treatment. To date, approximately 70 susceptibility genes have been identified as being associated with type 2 diabetes (T2D at a genome-wide significant level (P<5×10-8. However, all the genetic loci identified so far account for only about 10% of the overall heritability of T2D. In addition, how these novel susceptibility loci correlate with the pathophysiology of the disease remains largely unknown. This review covers the major genetic studies on the risk of T2D based on ethnicity and briefly discusses the potential mechanisms and clinical utility of the genetic information underlying T2D.

  2. Clinical and imaging features of intracranial arterial aneurysms in the pediatric population.

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    Aeron, Gunjan; Abruzzo, Todd A; Jones, Blaise V

    2012-01-01

    Intracranial arterial aneurysms (IAAs) are rare in children. Nevertheless, IAAs account for at least 10%-15% of hemorrhagic strokes during the first 2 decades of life. Traditional vascular risk factors, which are common in the adult population, are generally absent in the pediatric population, engendering distinct modes of IAA pathogenesis. Classification of pediatric IAAs according to the pathogenetic mechanism shows eight distinct categories: idiopathic, traumatic, those due to excessive hemodynamic stress, vasculopathic, infectious, noninfectious inflammatory, oncotic, and familial. Pathogenetic mechanism is the best predictor of the clinical course of the disease, response to treatment, and long-term prognosis. The pathogenetic subtypes of pediatric IAA show characteristic and variably overlapping features. In most cases, IAAs manifesting during the first 2 decades of life are idiopathic. IAAs that are idiopathic, traumatic (second most common type), or due to excessive hemodynamic stresses (third most common type) account for more than 80% of IAAs in the pediatric age group. Most of the remaining pediatric IAAs are the result of congenital cerebral aneurysmal arteriopathies or infection. Multiple IAAs are unusual in young children except in those with acquired (secondary to immune deficiency states) or congenital cerebral aneurysmal arteriopathies or infectious IAAs. RSNA, 2012

  3. A STUDY OF AETIOLOGY, CLINICAL FEATURES, ECG, ECHOCARDIOGRAPHIC FEATURES OF CARDIAC TAMPONADE

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    Y. V. Subba Reddy

    2017-01-01

    Full Text Available BACKGROUND Cardiac tamponade is a life-threatening, slow or rapid compression of the heart due to the pericardial accumulation of fluid, pus, blood, because of effusion, trauma or rupture of the heart. It was an observational study and included 40 patients with cardiac tamponade. We looked for incidence of Beck’s triad and pulsus paradoxus, electrocardiographic presence of electrical alternans, echocardiographic evidence of cardiac tamponade and aetiology of cardiac tamponade. MATERIALS AND METHODS This was a single-centre observational study that included 40 patients diagnosed with cardiac tamponade between January 2014 and January 2015. All patients were assessed concerning the clinical features, aetiology, electrocardiographic details and echocardiographic findings and quantification. RESULTS Total 25 patients were females; 34 (85.0% patients presented with pulsus paradoxus. Malignancy (42.5% was the most common aetiology for cardiac tamponade. Paradoxical hypertension was noted among five patients. Cardiac tamponade due to hypothyroidism was present in 7 patients. 39 patients presented with electrical alternans on ECG. Most of the patients had large pericardial effusion (50.0%. All patients were treated with pericardiocentesis and there was no in-hospital complication or mortality. CONCLUSION It can be concluded that malignancy is increasing as an aetiology for cardiac tamponade (42.5% followed by tuberculosis. Hypothyroidism as an aetiology for cardiac tamponade is not that rare (17.5%. Beck’s triad is not seen in all cases. JVP is raised in all patients. Hypertension at the time of presentation doesn’t rule out cardiac tamponade. Both ECG and echocardiography can be efficiently used in the diagnosis of cardiac tamponade. Pericardiocentesis is a noteworthy method for treatment of cardiac tamponade.

  4. Impact of the clinical use of ROCK inhibitor on the pathogenesis and treatment of glaucoma.

    Science.gov (United States)

    Honjo, Megumi; Tanihara, Hidenobu

    2018-02-14

    Rho-associated protein kinase (ROCK), a ubiquitously expressed signaling messenger and downstream effector of Rho, is activated by several bioactive factors in the aqueous humor (AH). Rho-ROCK signaling regulates a wide spectrum of fundamental cellular events, including cell adhesion, motility, proliferation, differentiation, and apoptosis. Previous studies, including our own, found that ROCK inhibitor lowers intraocular pressure (IOP) via a direct effect on the conventional AH outflow pathway, by regulation of contractile properties, fibrotic activity, and permeability of the trabecular meshwork (TM) and Schlemm's canal (SC) tissues, influencing extracellular matrix (ECM) production. Recently, a novel ROCK inhibitor, ripasudil, has been introduced in Japan. Other ROCK inhibitors are now in clinical trials as new IOP-lowering drugs for glaucoma patients. To date, ripasudil, administered together with other glaucoma medications, has proved safe and efficient in lowering IOP as well as additional effects such as prostaglandin analogs, beta-blockers, and carbonic anhydrase inhibitors, all of which help lower IOP by different mechanisms. In addition, we found that long-term treatment with ripasudil exerted an additional IOP-lowering effect, especially in eyes with high IOP, suggesting that late-onset remodeling of the ECM in glaucomatous eyes may elicit mild and delayed changes in IOP levels. ROCK inhibitors have also shown several additional effects, including increased retinal blood flow, direct protection of neurons against various types of stress, and regulation of wound healing; these benefits may potentially be useful in glaucoma treatment.

  5. Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.

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    Iolascon, Achille; Esposito, Maria Rosaria; Russo, Roberta

    2012-12-01

    Congenital dyserythropoietic anemias belong to a group of inherited conditions characterized by a maturation arrest during erythropoiesis with a reduced reticulocyte production in contrast with erythroid hyperplasia in bone marrow. The latter shows specific morphological abnormalities that allowed for a morphological classification of these conditions mainly represented by congenital dyserythropoietic anemias types I and II. The identification of their causative genes provided evidence that these conditions have different molecular mechanisms that induce abnormal cell maturation and division. Some altered proteins seem to be involved in the chromatin assembly, such as codanin-1 in congenital dyserythropoietic anemia I. The gene involved in congenital dyserythropoietic anemia II, the most frequent form, is SEC23B. This condition seems to belong to a group of diseases attributable to defects in the transport of newly synthesized proteins from endoplasmic reticulum to the Golgi. This review will analyze recent insights in congenital dyserythropoietic anemias types I and II. It will also attempt to clarify the relationship between mutations in causative genes and the clinical phenotype of these conditions.

  6. Selected clinical chemistry analytes correlate with the pathogenesis of inclusion body hepatitis experimentally induced by fowl aviadenoviruses.

    Science.gov (United States)

    Matos, Miguel; Grafl, Beatrice; Liebhart, Dieter; Schwendenwein, Ilse; Hess, Michael

    2016-10-01

    In the present study, clinical chemistry was applied to assess the pathogenesis and progression of experimentally induced inclusion body hepatitis (IBH). For this, five fowl aviadenovirus (FAdV) strains from recent IBH field outbreaks were used to orally inoculate different groups of day-old specific pathogen-free chickens, which were weighed, sampled and examined during necropsy by sequential killing. Mortalities of 50% and 30% were recorded in two groups between 6 and 9 days post-infection (dpi), along with a decreased weight of 23% and 20%, respectively, compared to the control group. Macroscopical changes were seen in the liver and kidney between 6 and 10 dpi, with no lesions being observed in the other organs. Histological lesions were observed in the liver and pancreas during the same period. Plasma was collected from killed birds of each group at each time point and the following clinical chemistry analytes were investigated: aspartate aminotransferase (AST), glutamate dehydrogenase (GLDH), bile acids, total protein, albumin, uric acid and lipase. Plasma protein profile, AST and GLDH, together with bile acids values paralleled the macroscopical and histopathological lesions in the liver, while plasma lipase activity levels coincided with lesions observed in pancreas. In agreement with the histology and clinical chemistry, viral load in the target organs, liver and pancreas, was highest at 7 dpi. Thus, clinical chemistry was found to be a valuable tool in evaluating and monitoring the progression of IBH in experimentally infected birds, providing a deeper knowledge of the underlying pathophysiological mechanisms of a FAdV infection in chickens.

  7. Inflammatory fibroid polyps of the gastrointestinal tract: spectrum of clinical, morphologic, and immunohistochemistry features.

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    Liu, Ta-Chiang; Lin, Ming-Tseh; Montgomery, Elizabeth A; Singhi, Aatur D

    2013-04-01

    Inflammatory fibroid polyps (IFPs) are rare, benign tumors that can arise throughout the gastrointestinal tract. Although the molecular pathogenesis of these lesions has been well characterized, their morphologic features often vary. We report the clinicopathologic findings of the largest series of IFPs to date. A total of 83 IFPs seen at our institution were collected between 1999 and 2012. The specimens included 64 biopsies and 19 resections. A review of the clinical features identified a modest female predominance (47 women and 36 men) with patients ranging in age from 26 to 87 years (mean, 60 y). Involved sites included the esophagus (n=2), stomach (n=31; mainly antrum), small intestines (n=17), appendix (n=1), large intestines (n=31; majority within the rectosigmoid), and anal canal (n=1). Although most patients had a nonspecific presentation, those with small intestinal lesions frequently presented with intussusception. Grossly, the tumors ranged in size from 0.2 to 4.2 cm (mean, 1.7 cm). Histologically, IFPs were centered within the submucosa in all resection specimens, but mucosal extension was found in 74 of 83 (89%) cases. The tumors varied in both cellularity and degree of vascularity. However, the characteristic feature of perivascular onion skinning was present in only 54% (45/83) of the cases. In addition, a short fascicular growth pattern was also noted in 36% (30 of 83) of cases, whereas both features were present in 14 cases (17%). Eosinophils were present in 94% (78 of 83) of cases but varied widely in number from abundant (20/hpf) to sparse (1/hpf). Interestingly, in those cases with sparse eosinophils, prominent hyalinization was also present (11 of 78, 13%). In addition, although the majority of IFPs expressed CD34, 6 of 44 (14%) were negative. No associated dysplasia or malignancy was seen. IFPs represent a diverse set of submucosal-based lesions that commonly extend into the mucosa, making them amenable to endoscopic biopsy. Although their

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

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    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

  9. Chronic traumatic encephalopathy: clinical-biomarker correlations and current concepts in pathogenesis.

    Science.gov (United States)

    Gandy, Sam; Ikonomovic, Milos D; Mitsis, Effie; Elder, Gregory; Ahlers, Stephen T; Barth, Jeffrey; Stone, James R; DeKosky, Steven T

    2014-09-17

    Chronic traumatic encephalopathy (CTE) is a recently revived term used to describe a neurodegenerative process that occurs as a long term complication of repetitive mild traumatic brain injury (TBI). Corsellis provided one of the classic descriptions of CTE in boxers under the name "dementia pugilistica" (DP). Much recent attention has been drawn to the apparent association of CTE with contact sports (football, soccer, hockey) and with frequent battlefield exposure to blast waves generated by improvised explosive devices (IEDs). Recently, a promising serum biomarker has been identified by measurement of serum levels of the neuronal microtubule associated protein tau. New positron emission tomography (PET) ligands (e.g., [18 F] T807) that identify brain tauopathy have been successfully deployed for the in vitro and in vivo detection of presumptive tauopathy in the brains of subjects with clinically probable CTE. Major academic and lay publications on DP/CTE were reviewed beginning with the 1928 paper describing the initial use of the term CTE by Martland. The major current concepts in the neurological, psychiatric, neuropsychological, neuroimaging, and body fluid biomarker science of DP/CTE have been summarized. Newer achievements, such as serum tau and [18 F] T807 tauopathy imaging, are also introduced and their significance has been explained. Recent advances in the science of DP/CTE hold promise for elucidating a long sought accurate determination of the true prevalence of CTE. This information holds potentially important public health implications for estimating the risk of contact sports in inflicting permanent and/or progressive brain damage on children, adolescents, and adults.

  10. Farber disease: clinical presentation, pathogenesis and a new approach to treatment

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    Roth Johannes

    2007-06-01

    Full Text Available Abstract Background Farber Disease is an autosomal-recessively inherited, lysosomal storage disorder caused by acid ceramidase deficiency and associated with distinct clinical phenotypes. Children with significant neurological involvement usually die early in infancy, whereas patients without or only mild neurological findings suffer from progressive joint deformation and contractures, subcutaneous nodules, inflammatory, periarticular granulomas, a hoarse voice and finally respiratory insufficiency caused by granuloma formation in the respiratory tract and interstitial pneumonitis leading to death in the third or fourth decade of live. As the inflammatory component of this disorder is caused by some kind of leukocyte dysregulation, allogeneic hematopoietic stem cell transplantation can restore a healthy immune system and thus may provide a curative option in Farber Disease patients without neurological involvement. Previous stem cell transplantations in two children with severe neurological involvement had resulted in a disappointing outcome, as both patients died of progressive deterioration of their neurological status. As a consequence, stem cell transplantation does not appear to be able to abolish or even reduce the neurotoxic effects of the abundant ceramide storage in the brain. Methods After myeloablative, busulfan-based preparative regimens, four Farber Disease patients without neurological involvement received an allogeneic hematopoietic stem cell transplantation from related and unrelated donors. Stem cell source was BM in three patients and PBSC in one patient; GvHD-prophylaxis consisted of CsA and short course MTX. Results and discussion In all patients, HSCT resulted in almost complete resolution of granulomas and joint contractures, considerable improvement of mobility and joint motility without relevant therapy-related morbidities. All patients are alive and well at this point with stabile donor cell chimerism and without

  11. Clinical features of tuberous sclerosis complex in children with epilepsy

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    Dong LI

    2014-12-01

    Full Text Available Objective To explore the clinical features of tuberous sclerosis complex (TSC in children with epilepsy.  Methods The clinical data of 36 TSC children complicated with epilepsy were analyzed retrospectively.  Results All children had epilepsy as first symptom: 23 cases of seizures happened on age less than one year old (63.89%, 8 cases on age 1-3 years old (22.22%, and 5 cases on age more than 3 years old (13.89% . Main attack types were as follows: 12 cases with focal seizures (33.33% , 5 cases with generalized seizures (13.89% , 7 cases with spasms (19.44% and 12 cases (33.33% with mixed seizures. Mental retardation was found in 19 cases (67.86%. Among 30 cases who received brain MRI examination, all had subependymal nodules, 26 cases (86.67% were complicated with cortical and subcortical nodules, 2 cases (6.67% with subependymal giant cell astrocytoma (SEGA, one case (3.33% with pachygyria. EEG examination showed interictal epileptiform discharges in 34 cases (94.44% , including multifocal discharges in 12 patients (35.29% , generalized discharges in 8 patients (23.53% , focal discharges and hypsarrhythmia in 7 patients (20.59% respectively. Seizures were monitored in 8 patients, and the types included spasms in 4 cases, focal seizures in 3 cases, and myoclonic seizures in one case. Seventeen cases (47.22% took one single antiepileptic drug, 12 cases (33.33% took two drugs, and 7 cases (19.44% took three drugs, while one of them underwent surgical treatment. After 0.50-10 year follow-up, seizures free happened in 7 cases (19.44%, improved in 16 cases (44.44%, and invalid in 13 cases (36.11%.  Conclusions Epilepsy is the most common nervous system performance in children TSC, and most seizures begin to happen in infants. The main types of onset are partial seizures and spasms. Most of the patients get improved with antiepileptic drugs. doi: 10.3969/j.issn.1672-6731.2014.12.011

  12. Clinical and neuroradiological features of syringomyelia associated with Chiari malformation

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    Isu, Toyohiko; Iwasaki, Yoshinobu; Akino, Minoru; Abe, Hiroshi; Tashiro, Kunio; Sudo, Kazumasa; Miyasaka, Kazuo (Hokkaido Univ., Sapporo (Japan). School of Medicine); Saito, Hisatoshi

    1990-01-01

    The clinical presentation and radiological features were analyzed in 30 cases of syringomyelia associated with Chiari malformation. None of the patients had spinal dysraphism. The age on admission ranged from 6 to 59 years with a mean of 27 years. Syringomyelia was diagnosed by CT myelography and or MRI from 1982 to 1988. The initial symptoms were skeletal abnormality (43%) such as scolisis (12 cases) or pescavus (one case), unilateral pain or numbness (40%) and unilateral motor weakness (17%). Frequently seen signs on admission were sensory deficit (100%), scoliosis (57%), muscle weakness (57%), muscle atrophy (37%) and lower cranial nerve palsy (40%). The neurological findings were asymmetrical in all patients. The characteristic neurological findings in the cases presenting under 20 years of age were unilateral sensory and motor deficits (61%) with decreased or absent deep tendon reflex on the same side. The localization of the syrinx in axial section varied according to the level even in the same case. In 15 cases with unilateral sensory disturbance or unilateral sensory and motor deficit, the syrinx was located in the region corresponding to the posterolateral portion on the same side as that of sensory disturbance in the cervical or thoracic level. On the other hand, in 15 cases with bilateral sensory and motor deficit, the syrinx was located in the central portion and extended into the posterolateral portion of the more affected side. The authors think that the syrinx which originates from the unilateral posterolateral portion, extends to involve the gray matter around the central canal and the posterolateral portion of the other side with progression of the syrinx to cause bilateral disturbance. As a result, unilateral neurological symptoms also become bilateral with progression of the syrinx. (author).

  13. Difference of clinical features in childhood Mycoplasma pneumoniae pneumonia

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    Kang Jin-Han

    2010-07-01

    Full Text Available Abstract Background M. pneumoniae pneumonia (MP has been reported in 10-40% of community-acquired pneumonia cases. We aimed to evaluate the difference of clinical features in children with MP, according to their age and chest radiographic patterns. Methods The diagnosis of MP was made by examinations at both admission and discharge and by two serologic tests: the indirect microparticle agglutinin assay (≥1:40 and the cold agglutinins titer (≥1:32. A total of 191 children with MP were grouped by age: ≤2 years of age (29 patients, 3-5 years of age (81 patients, and ≥6 years of age (81 patients. They were also grouped by pneumonia pattern: bronchopneumonia group (96 patients and segmental/lobar pneumonia group (95 patients. Results Eighty-six patients (45% were seroconverters, and the others showed increased antibody titers during hospitalization. Among the three age groups, the oldest children showed the longest duration of fever, highest C-reactive protein (CRP values, and the most severe pneumonia pattern. The patients with segmental/lobar pneumonia were older and had longer fever duration and lower white blood cell (WBC and lymphocyte counts, compared with those with bronchopneumonia. The patient group with the most severe pulmonary lesions had the most prolonged fever, highest CRP, highest rate of seroconverters, and lowest lymphocyte counts. Thrombocytosis was observed in 8% of patients at admission, but in 33% of patients at discharge. Conclusions In MP, older children had more prolonged fever and more severe pulmonary lesions. The severity of pulmonary lesions was associated with the absence of diagnostic IgM antibodies at presentation and lymphocyte count. Short-term paired IgM serologic test may be mandatory for early and definitive diagnosis of MP.

  14. Clinical features of Korean patients with congenital aniridia.

    Science.gov (United States)

    Park, Shin Hae; Park, Young Gun; Lee, Mee Yon; Kim, Man Soo

    2010-10-01

    To investigate the clinical features of Korean patients with congenital aniridia. This retrospective study focused on 60 eyes from 31 patients who were diagnosed with congenital aniridia at Kangnam St. Mary's Hospital from 1996 to 2007. Patient age, gender, visual acuity (VA), family history, and previous ocular history were recorded. The presence of keratopathy, glaucoma, cataract, foveal hypoplasia, and other ocular or systemic anomalies were evaluated for each patient. The proportion of sporadic cases was 29.0%. Cataract (82.5%), glaucoma (51.6%), keratopathy (71.6%), and foveal hypoplasia (81.8%) commonly accompanied aniridia. Thirty-four (60.7%) eyes had VAs less than 20/200 and 20 eyes (35.7%) had VAs between 20/200 and 20/60. In patients without a past history of ocular surgery, the mean central corneal thickness was 643.05 ± 37.67 µm and the mean endothelial cell count was 3,349.44 ± 408.17 cells/mm(2). Ocular surface surgeries were performed in 6 eyes. The clarity of the transplanted corneal graft vanished in 5 eyes with the progression of peripheral neovascularization and subepithelial fibrosis. The mean age of cataract surgery in 8 eyes was 29.8 ± 5.9 years. Postoperative worsening of corneal clouding and glaucomatous damage were observed in 4 eyes. Two infants had bilateral congenital glaucoma. Two children with sporadic aniridia were identified to have Wilm's tumors. Congenital aniridia is a progressive congenital disorder that is commonly accompanied by complications that can lead to impaired vision. Regular, careful examinations for these accompanying complications should be performed in all patients with congenital aniridia.

  15. Clinical features of polyhydramnios associated with fetal anomalies.

    Science.gov (United States)

    Hara, Kikue; Kikuchi, Akihiko; Miyachi, Keiko; Sunagawa, Sorahiro; Takagi, Kimiyo

    2006-12-01

    The purpose of this study was to examine the clinical features of pregnancy complicated by polyhydramnios associated with fetal anomalies. Sixty-nine patients with a singleton pregnancy complicated by polyhydramnios were retrospectively analyzed. Based on prenatal ultrasonographic findings, 13 cases were considered to have idiopathic polyhydramnios and the remaining 56 cases were associated with fetal anomalies. Between these two groups, no significant difference was found in the gestational weeks when polyhydramnios developed. However, significant difference was noted in the maximum amniotic fluid index (AFI) values during the pregnancy period; 25.4 +/- 2.7 cm in the former, and 30.6 +/- 8.9 cm in the latter (P = 0.0004). In all of 13 cases with idiopathic polyhydramnios, AFI values remained less than 30 cm until delivery. Twenty-two patients (39%) with fetal anomalies required a prenatal treatment such as amnioreduction and tocolysis, whereas only one patient (7.7%) with idiopathic polyhydramnios needed tocolysis therapy (P = 0.03). There was a significant risk of premature delivery with fetal anomalies (35.6 +/- 3.9 weeks' gestation vs. 38.8 +/- 1.5 weeks' gestation, P = 0.004) because of refractory polyhydramnios, rupture of membranes, non-reassuring fetal status, and intrauterine fetal death, and although most infants with idiopathic polyhydramnios were appropriate-for-dates, many of the infants with congenital anomalies were small-for-dates. Significant risk of fetal anomalies should be considered in pregnant women with severe polyhydramnios (AFI > or = 30 cm), an increased trend of amniotic fluid during the pregnancy period, polyhydramnios requiring a prenatal treatment, or fetal growth restriction. On the other hand, based on our experience, a fetus without these conditions seems to have a low risk of congenital anomalies even if polyhydramnios is noted.

  16. Pseudotumour cerebri in children: Aetiology, clinical features, and progression.

    Science.gov (United States)

    Mosquera Gorostidi, A; Iridoy Zulet, M; Azcona Ganuza, G; Gembero Esarte, E; Yoldi Petri, M E; Aguilera Albesa, S

    2017-01-09

    The definition, associated aetiologies, diagnosis, and treatment of idiopathic intracranial hypertension, or pseudotumour cerebri (PTC), are constantly being revised in the paediatric population. Our study included children younger than 15 years old with PTC and attended at a reference hospital in the past 12 years. We analysed the clinical and epidemiological features of our sample and the diagnostic and treatment approaches. PTC was defined as presence of intracranial hypertension (CSF opening pressure>25cmH 2 O) and absence of space-occupying lesions in brain MR images. A total of 12 children with PTC were included; mean age was 10 years and 90% were girls. Weight was normal in all patients. Eighty-two percent of the patients had symptoms: headache (66%), diplopia (8%), and visual loss (8%). All of them displayed papilloedema (17% unilaterally). Lumbar puncture (LP) provided the diagnosis in all cases and 91% showed no relevant MRI findings. A potential cause of PTC was identified in 5 cases: pharmacological treatment in 2 and infection (Mycoplasma pneumoniae [M. pneumoniae]) in 3. Ninety-one per cent of the patients received treatment: 75% underwent several LPs and 42% received acetazolamide and/or prednisone. Outcomes were favourable in all cases. The incidence of PTC was estimated at approximately 1 case per 100 000 children/years, in line with data reported by previous studies. Overweight was not found to be a risk factor for PTC in this population. M. pneumoniae infection may trigger PTC and cause recurrences at later stages. The absence of symptoms seems to be independent from the degree of intracranial hypertension. Acetazolamide treatment is effective in most cases, and it represents a viable alternative to repeated LP. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Clinical features of atypical odontalgia; three cases and literature reviews.

    Science.gov (United States)

    Takenoshita, Miho; Miura, Anna; Shinohara, Yukiko; Mikuzuki, Rou; Sugawara, Shiori; Tu, Trang Thi Huyen; Kawasaki, Kaoru; Kyuragi, Takeru; Umezaki, Yojiro; Toyofuku, Akira

    2017-01-01

    Atypical odontalgia (AO) is a disease characterized by continuous pain affecting the teeth or tooth sockets after extraction in the absence of any identifiable cause on clinical or radiographic examination. Antidepressants, such as amitriptyline, are reported to be effective in the treatment of AO; however, their efficacy varies depending on the case. In this article, we report three types of AO and discuss its heterogeneity and management. In the first case, a 58-year-old woman presented with a heavy, splitting pain in the four maxillary front post-crown teeth, as if they were being pressed from the side. Her symptoms abated with 20 mg of amitriptyline. In the second case, a 39-year-old woman presented with a feeling of heaviness pain on the right side of maxillary and mandibular molar teeth, face, whole palate, and throat. She was unable to function because of her pain. Her symptoms drastically subsided with 3 mg of aripiprazole. In the third case, a 54-year-old woman presented with a tingling sensation on the left mandibular second premolar and first molar, and an uncomfortable feeling on her provisional prosthesis that made it unbearable to keep the caps on. Her symptoms diminished with 2 mg of aripiprazole added to 30 mg of mirtazapine. AO shows various features and responses to drugs. It is considered not only a purely sensory problem, but also a considerably complex psychological problem, such as rumination about the pain. Investigating the difference in pharmacotherapeutic responses might help to advance the treatment of AO.

  18. Clinical features and follow-up of congenital syphilis.

    Science.gov (United States)

    Lago, Eleonor G; Vaccari, Alessandra; Fiori, Renato M

    2013-02-01

    The aim of this study was to investigate clinical features and outcomes of children treated for congenital syphilis (CS). Infants born alive in the public sector of São Lucas Hospital, Porto Alegre, Brazil, 1997 to 2004, whose mothers had syphilis and neonates with CS born in other facilities and admitted during this period were included. Follow-up was performed from birth up to 5 years. Among 24,920 live births, 379 (1.5%) met the criteria for CS. A further 19 infants born in other hospitals were included, for a total of 398 with CS. We compared infants with CS with 120 infants whose mothers received adequate treatment of syphilis before delivery (total sample, 518 infants). Congenital syphilis was associated with delivery before 34 weeks, low birth weight, and small for gestational age. During the study period, 37 stillbirths with CS were detected. Result from the serum venereal disease research laboratory test was negative at birth in 17.5% of the neonates with CS, and in 4 infants, it became positive after the second day. Thirty percent of the infants with CS were reevaluated between 8 and 60 months, and most had a good outcome when managed according to standard guidelines. Sixteen infants (13.3%) had sequelae. Of these, 8 were symptomatic in the neonatal period, and 13 (81%) of 16 had laboratory/x-ray findings. All asymptomatic and 78% of symptomatic infants had nonreactive fluorescent treponemal antibody absorption test after 12 months of age. Congenital syphilis remains an impacting disease that causes fetal and neonatal deaths, prematurity, low birth weight, and severe and irreversible sequelae in some children. This study confirms the value of standard guidelines for its management.

  19. Clinical and microbiological features of bacteremia caused by Enterococcus faecalis.

    Science.gov (United States)

    Ceci, Mónica; Delpech, Gastón; Sparo, Mónica; Mezzina, Vito; Sánchez Bruni, Sergio; Baldaccini, Beatriz

    2015-11-30

    Enterococcus faecalis is a frequent etiologic agent of invasive infections in hospitalized patients. The aim of this study was to analyze clinical and microbiological features of bacteremia caused by E. faecalis. Between 2011 and 2013, significant bacteremia caused by E. faecalis in hospitalized patients was studied. Patient characteristics, comorbid conditions, and 14-day mortality were recorded. Virulence genes esp, gelE, and cylA; opsonophagocytosis resistance; resistance to bactericidal effect of normal serum; beta lactamase production; and susceptibility to ampicillin, vancomycin, teicoplanin, gentamicin, and streptomycin were investigated. E. faecalis strains were recovered from 33 bacteremic patients. Polymicrobial bacteremia was diagnosed in 2 patients; 10 patients died. Virulence genes were found in strains from both deceased patients and survivors. Sources of bacteremia included urinary tract infections (36.4%), vascular catheters (15.1%), abscesses (9.1%), and unknown (48.5%). Underlying diseases included cancer (30.3%), diabetes (36.4%), cirrhosis (6.1%), renal (36.4%), and chronic obstructive pulmonary disease (2.0%). Co-morbidities included alcohol use (26.1%); glucocorticoid therapy (19.0%); prior antibiotic therapy (60.6%); and central venous (21.2%), arterial (12.1%), and urinary (63.6%) catheters. Also, 57.6% of patients came from the intensive care unit (ICU); 33.3% had mechanical ventilation. Significant mortality-associated conditions included polymicrobial bacteremia, oncological disease, APACHE II score ≤ 20, ICU stay, renal disease, central venous catheter, and mechanical ventilation. Outcome of patients was associated with their status and not with the presence of virulence genes in E. faecalis strains. A significant percentage of bacteremia had undetermined origin. An alternate origin may be the gastrointestinal tract, through translocation.

  20. Psychopathy: clinical features, developmental basis and therapeutic challenges.

    Science.gov (United States)

    Thompson, D F; Ramos, C L; Willett, J K

    2014-10-01

    Psychopathy is a personality disorder characterized by deficits in personality and behaviour. Personality deficits are marked by interpersonal and affective facets, including pathological lying, grandiose sense of self-worth, lack of remorse and callousness. Behavioural deficits are defined by lifestyle and antisocial deficits, including impulsivity, parasitic lifestyle and poor behavioural controls. The objective of this review is to provide clinicians with (i) an appreciation of the clinical features of psychopathy, (ii) an understanding of the structural and functional derangements and the genetic and environmental factors which serve as the basis for the development of psychopathy and (iii) a summary of published reports of pharmacological approaches to the management of this disorder. A literature search of MEDLINE/PubMed (1966-present) was conducted using the MeSH search terms psychopathy and antisocial personality disorder alone and in combination with the subheading drug therapy. Additional databases included Web of Science (1945-present) and International Pharmaceutical Abstracts (1970-present) using the text words psychopath and antisocial personality were searched. A search of Amazon books using the search terms psychopathy and sociopathy was also performed. Bibliographies of relevant articles were searched for additional citations. All data sources in English were considered for inclusion. For background information, broad subject headings were searched for review articles first. Human and animal drug therapy articles were evaluated giving preference to those papers using a controlled trial methodology. Psychopathy is a personality disorder characterized by a lack of conscience, pathologic lying, manipulative behaviour and often superficial charm. The incidence of psychopathy in the general population is generally considered to be 0·6-4% with a higher proportion of males to females. Brain imaging studies of psychopaths suggest a smaller and less active

  1. Exertional dyspnea in mitochondrial myopathy: clinical features and physiological mechanisms.

    Science.gov (United States)

    Heinicke, Katja; Taivassalo, Tanja; Wyrick, Phil; Wood, Helen; Babb, Tony G; Haller, Ronald G

    2011-10-01

    Exertional dyspnea limits exercise in some mitochondrial myopathy (MM) patients, but the clinical features of this syndrome are poorly defined, and its underlying mechanism is unknown. We evaluated ventilation and arterial blood gases during cycle exercise and recovery in five MM patients with exertional dyspnea and genetically defined mitochondrial defects, and in four control subjects (C). Patient ventilation was normal at rest. During exercise, MM patients had low Vo(2peak) (28 ± 9% of predicted) and exaggerated systemic O(2) delivery relative to O(2) utilization (i.e., a hyperkinetic circulation). High perceived breathing effort in patients was associated with exaggerated ventilation relative to metabolic rate with high VE/VO(2peak), (MM = 104 ± 18; C = 42 ± 8, P ≤ 0.001), and Ve/VCO(2peak)(,) (MM = 54 ± 9; C = 34 ± 7, P ≤ 0.01); a steeper slope of increase in ΔVE/ΔVCO(2) (MM = 50.0 ± 6.9; C = 32.2 ± 6.6, P ≤ 0.01); and elevated peak respiratory exchange ratio (RER), (MM = 1.95 ± 0.31, C = 1.25 ± 0.03, P ≤ 0.01). Arterial lactate was higher in MM patients, and evidence for ventilatory compensation to metabolic acidosis included lower Pa(CO(2)) and standard bicarbonate. However, during 5 min of recovery, despite a further fall in arterial pH and lactate elevation, ventilation in MM rapidly normalized. These data indicate that exertional dyspnea in MM is attributable to mitochondrial defects that severely impair muscle oxidative phosphorylation and result in a hyperkinetic circulation in exercise. Exaggerated exercise ventilation is indicated by markedly elevated VE/VO(2), VE/VCO(2), and RER. While lactic acidosis likely contributes to exercise hyperventilation, the fact that ventilation normalizes during recovery from exercise despite increasing metabolic acidosis strongly indicates that additional, exercise-specific mechanisms are responsible for this distinctive pattern of exercise ventilation.

  2. Foot Drop Caused by Lumbar Degenerative Disease: Clinical Features, Prognostic Factors of Surgical Outcome and Clinical Stage: e80375

    National Research Council Canada - National Science Library

    Kun Liu; Wei Zhu; Jiangang Shi; Lianshun Jia; Guodong Shi; Yuan Wang; Ning Liu

    2013-01-01

      Objective The purpose of this study was to analyze the clinical features and prognostic factors of surgical outcome of foot drop caused by lumbar degenerative disease and put forward the clinical stage...

  3. Discrepant clinical and haematological features in siblings of ...

    African Journals Online (AJOL)

    Haemoglobins consist of different combinations of α-, β-, γ- and δ-chains encoded by genes on chromosomes 11 and 16. Many naturally occurring, genetically determined variants of human haemoglobin (Hb) exist (>750); some of these are harmless but others have serious clinical implications. Clinical syndromes due to ...

  4. Clinical features and antinuclear antibodies profile among adults ...

    African Journals Online (AJOL)

    Introduction: Limited data is available regarding the clinical manifestations and pattern of Systemic Lupus Erythematosus (SLE) in Sudan. This study aimed to determine the clinical manifestations and Antinuclear Antibodies (ANA) profile among Sudanese adults with SLE and lupus nephritis (LN). Methods: A descriptive ...

  5. Clinical Features Of Primary Glaucoma In Ibadan | Ashaye | Nigerian ...

    African Journals Online (AJOL)

    Severe cupping and atrophy of optic nerve heads, severe field loss and high intraocular pressure were the typical presentations. Eyes examined with a gonioscope revealed that 15% had closed, 26.2% had narrow and 58.8% had wide open angle glaucomas. Angle closure glaucoma did not present with acute features in ...

  6. Clinical and radiologic features of extraskeletal myxoid chondrosarcoma including initial presentation, local recurrence, and metastases

    Directory of Open Access Journals (Sweden)

    Kapoor Neena

    2014-09-01

    Full Text Available Background. The aim of the study was to evaluate the clinical and imaging features of extraskeletal myxoid chondrosarcoma (EMC including initial presentation, recurrence, and metastases.

  7. Clinical Features of Patients with Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Hai Chen

    2016-01-01

    Conclusion: The different CSF features combined with clinical, magnetic resonance imaging, and serum characteristics between Chinese patients with MS and NMOSD could assist in the differential diagnosis.

  8. Gastrointestinal problems in modern wars: clinical features and possible mechanisms.

    Science.gov (United States)

    Wang, Wei-Feng; Guo, Xiao-Xu; Yang, Yun-Sheng

    2015-01-01

    Gastrointestinal problems are common during wars, and they have exerted significant adverse effects on the health of service members involved in warfare. The spectrum of digestive diseases has varied during wars of different eras. At the end of the 20th century, new frontiers of military medical research emerged due to the occurrence of high-tech wars such as the Gulf War and the Kosovo War, in which ground combat was no longer the primary method of field operations. The risk to the military personnel who face trauma has been greatly reduced, but disease and non-battle injuries (DNBIs) such as neuropsychological disorders and digestive diseases seemed to be increased. Data revealed that gastrointestinal symptoms such as constipation, diarrhea, dyspepsia, and noncardiac chest pain are common among military personnel during modern wars. In addition, a large number of deployed soldiers and veterans who participated in recent wars presented with chronic gastrointestinal complaints, which fulfilled with the Rome III criteria for functional gastrointestinal disorders (FGIDs). It was also noted that many veterans who returned from the Gulf War suffered not only from chronic digestive symptoms but also from neuropsychological dysfunction; however, they also showed symptoms of other systems. Presently, this broad range of unexplained symptoms is known as "Gulf War syndrome". The mechanism that underlies Gulf War syndrome remains unclear, but many factors have been associated with this syndrome such as war trauma, stress, infections, immune dysfunction, radiological factors, anthrax vaccination and so on. Some have questioned if the diagnosis of FGIDs can be reached given the complexity of the military situation. As a result, further studies are needed to elucidate the pathogenesis of gastrointestinal disease among military personnel.

  9. Acute epiploic appendagitis: Radiologic and clinical features of 12 patients

    Directory of Open Access Journals (Sweden)

    Nadida Dali

    2016-01-01

    Conclusion: For its non-specific clinical presentation, that can mimic other surgical affections, and its rather non-operative treatment, the diagnosis of epiploic appendagitis is crucial. Ultrasound and especially CT scan imaging are necessary for an accurate diagnosis.

  10. Proteus syndrome review: molecular, clinical, and pathologic features.

    Science.gov (United States)

    Cohen, M Michael

    2014-02-01

    Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this mosaic disorder, including: (i) disproportionate, asymmetric, and distorting overgrowth; (ii) bone abnormalities different from those observed in other disorders; (iii) a characteristic cerebriform connective tissue nevus made up of highly collagenized connective tissue; (iv) epidermal nevi in early life, consisting of acanthosis and hyperkeratosis; (v) vascular malformations of the capillary, venous, or lymphatic types; (vi) dysregulated adipose tissue including lipomas, lipohypoplasia, fatty overgrowth, and localized fat deposits; (vii) other unusual features, including bullous lung alterations; specific neoplasms; a facial phenotype associated with intellectual disability and/or seizures, and/or brain malformations; and (viii) deep vein thrombosis, resulting in premature death. Concluding remarks address diagnostic criteria, natural history, management, psychosocial issues, and differential diagnosis. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Bortezomib-associated demyelinating neuropathy--clinical and pathologic features.

    Science.gov (United States)

    Thawani, Sujata P; Tanji, Kurenai; De Sousa, Eduardo A; Weimer, Louis H; Brannagan, Thomas H

    2015-06-01

    Bortezomib is a proteasome inhibitor that is frequently used for multiple myeloma and lymphoma. A sensory predominant axonal neuropathy is associated with bortezomib treatment but a demyelinating neuropathy is also described primarily based on electrodiagnostic findings. We report a series of patients treated with bortezomib who developed peripheral neuropathy and were found to have demyelinating features on electrodiagnostic testing. Four patients who developed a bortezomib-induced peripheral neuropathy underwent electrophysiological testing, and 1 patient had a nerve biopsy. The four patients with bortezomib-induced peripheral neuropathy had demyelinating features on their electrophysiological testing. The nerve biopsy performed in 1 patient demonstrated a demyelinating component in a background of axonal degeneration. Although most toxic neuropathies are symmetrical axonal neuropathies, bortezomib is part of a small list of agents that may cause a demyelinating polyneuropathy and axonal degeneration. These findings have been confirmed by nerve biopsy.

  12. Dementia Pugilistica with clinical features of Alzheimer's disease

    OpenAIRE

    Renata Areza-Fegyveres; Sergio Rosemberg; Castro, Rosa Maria R.P.S.; Claudia Sellitto Porto; Valéria Santoro Bahia; Paulo Caramelli; Ricardo Nitrini

    2007-01-01

    A 61-year-old ex-boxer presented with a three-year history of progressive memory decline. During a seven-year follow-up period, there was a continuous cognitive decline, very similar to that usually observed in Alzheimer's disease. Parkinsonian, pyramidal or cerebellar signs were conspicuously absent. Neuropathological examination revealed the typical features of dementia pugilistica: cavum septi pellucidi with multiple fenestrations, numerous neurofibrillary tangles in the cerebral isocortex...

  13. Extracting BI-RADS Features from Portuguese Clinical Texts

    Science.gov (United States)

    Nassif, Houssam; Cunha, Filipe; Moreira, Inês C.; Cruz-Correia, Ricardo; Sousa, Eliana; Page, David; Burnside, Elizabeth; Dutra, Inês

    2013-01-01

    In this work we build the first BI-RADS parser for Portuguese free texts, modeled after existing approaches to extract BI-RADS features from English medical records. Our concept finder uses a semantic grammar based on the BIRADS lexicon and on iterative transferred expert knowledge. We compare the performance of our algorithm to manual annotation by a specialist in mammography. Our results show that our parser’s performance is comparable to the manual method. PMID:23797461

  14. [FEATURES OF CLINICAL COURSE OF INFECTIOUS MONONUCLEOSIS IN CHILDREN DEPENDENT ON ETIOLOGY].

    Science.gov (United States)

    Kharchenko, Iu P; Zarets'ka, A V; Slobodnichenko, L M; Iurchenko, I V

    2015-01-01

    The article highlights the clinical features of infectious mononucleosis in children (based on the analysis of the data for children of different ages treated in Odessa clinical hospital of infectious diseases in connection with infectious mononucleosis) based on etiological factors.

  15. Drug reaction with eosinophilia and systemic symptoms: A drug-induced hypersensitivity syndrome with variable clinical features

    Directory of Open Access Journals (Sweden)

    Yi-Chun Chen

    2013-12-01

    Full Text Available Drug reaction with eosinophilia and systemic symptoms (DRESS or drug-induced hypersensitivity syndrome (DIHS involves a unique and severe adverse drug reaction. Patients present with fever, rash, lymphadenopathy, hematological abnormalities, systemic illness, and may suffer from prolonged courses. Although the precise pathogenesis of DRESS/DIHS is not fully understood, it is widely considered to be an immunological reaction to a drug or drug metabolites. In this review article, we discuss the historical aspects of nosology, variable clinical and histopathological features, advantages and disadvantages of using an international Registry of Severe Cutaneous Adverse Reactions (RegiSCAR and Japanese DIHS criteria, pathogenesis, treatment, and long-term sequelae of DRESS/DIHS. Early recognition of this syndrome, withdrawal of suspected culprit drugs, and adequate supportive care are mainstays of improving patient prognosis and reducing morbidities and mortality. Moreover, some DRESS/DIHS patients may develop long-term sequelae, especially autoimmune diseases and end organ failure. Physicians should be aware of these possibilities in patients after DRESS/DIHS and cautiously follow-up symptoms and laboratory tests for early detection of these sequelae.

  16. [Emotional stress as a clinical model to study the pathogenesis of the initial phase of the general adaptation syndrome].

    Science.gov (United States)

    Anikhovskaya, I A; Dvoenosov, V G; Zhdanov, R I; Koubatiev, A A; Mayskiy, I A; Markelova, M M; Meshkov, M V; Oparina, O N; Salakhov, I M; Yakovlev, M Yu

    2015-01-01

    General adaptation syndrome (GAS), the basis of the development of which is stress phenomenon, is an essential component of the pathogenesis of many diseases and syndromes. However, the patho genesis of GAS hitherto is considered exclusively from the endocrinological viewpoint. This relates primarily to the initial phase of the GAS, a clinical model for the study of which may be psycho-emotional stress (PES), which we studied using three groups of volunteers. The first one consists of 25 students who were waiting for unaccustomed physical activity (17 men) and play debut on the stage (8 women). The second group consists of 48 children (2-14 years) who expected for "planned" surgery. The third group of volunteers is made up of 80 students (41 women and 39 men) during the first exam. The concentration of cortisol, endotoxin (ET), the activity of antiendotoxin immunity (AEI) and the haemostatic system parameters were determined in the blood serum of volunteers in various combinations. We found laboratory evidence for PES at 92% of students of the first group, 58% of children of the second one and in 21% of students of the third group of volunteers (mostly women). The concentration of ET increased at 13 (52%) volunteers of the first group with a significant increase of average indicators in the whole group (from 0.84 ± 0.06 to 1.19 ± 0.04 EU/ml). At children of the second group, the average concentration of ET increased even more significantly (from 0.42 ± 0.02 to 1.63 ± 0.11 EU/ml), which was accompanied by the activation of the hemostasis system. A degree of the activation was directly dependent on the level of ET in the general circulation and on an activity of AEI. Examination stress in the third group of volunteers is accompanied by activation of plasma hemostasis (increased initial thrombosis rate and reduced the time it starts, lag-period) in 26% of female students and 15% of male students. We suggest that it is possible to use the PES as a clinical model

  17. Primary hyperparathyroidism: epidemiology, clinical features, diagnostic tools and current management

    Directory of Open Access Journals (Sweden)

    Andrea Percivale

    2015-12-01

    Full Text Available Primary hyperparathyroidism (PHPT is a clinical condition characterized by overactive parathyroid gland secretion of parathyroid hormone with concurrent alteration of the phosphocalcemic metabolism. We present a literature review on primary hyperparathyroidism addressing key on clinical presentation, causes, medical and surgical treatment at the best of our knowledge. Based on this review we confirm the role of serum calcium and serum level examination, as well as we define the definitive treatment for PHPT being parathyroidectomy. In case of contraindication for surgery, medical treatment can play a relevant role.

  18. CLINICAL AND FUNCTIONAL FEATURES OF PANCREAS STATE IN RHEUMATOID ARTHRITIS

    Directory of Open Access Journals (Sweden)

    O. O. Basieva

    2000-01-01

    Full Text Available Aim of study: complex pancreas study in rheumatoid arthritis (RA. Material and methods: 120 RA pts were examined clinically Pancreas US-and biochemical study (level of a-amylase and lipase of blood serum by kinetic-calorimetric method was performed in this grouh. Results: 50.8% of pts demonstrated increase of pancreas echo, in 23.3%- widened Wirsung s duct, in 45%- single small focal indurations, more often in the body and cauda pancreatis. Decrease of lipolitic and amylolytic pancreas activity is characteristic for RA, especially in systemic process and long-term disease. Clinical and functional disturbances are connected with morphological changes.

  19. CLINICAL AND LABORATORY FEATURES OF PARVOVIRUS INFECTION IN CHILDREN

    Directory of Open Access Journals (Sweden)

    E. V. Sharipova

    2013-01-01

    Full Text Available The article is devoted to the study of clinical symptoms and laboratory changes at parvovirus B19 infection in children during the rise of the incidence of infectious erythema. 44 children ailing with laboratory confirmed parvovirus B19 infection aging from 2 months to 14 years were complexly examined. It was established that the disease occurs mainly in boys of preschool and early school age, with a seasonal rise in April and May. General infectious syndrome and syndrome of exanthema dominate the clinical picture. Infectious erythema has benign course.

  20. Clinical, dermoscopic, and histopathologic features of body hair disorders.

    Science.gov (United States)

    Panchaprateep, Ratchathorn; Tanus, Aline; Tosti, Antonella

    2015-05-01

    Dermoscopic examination of hair and scalp, also named "trichoscopy," is an essential tool in diagnosis of hair and scalp diseases. Trichoscopy is fast and noninvasive and can be used to evaluate hair disorders in all body areas. Body hair disorders are uncommon, and most publications on their dermoscopic features are limited to case reports or series. In this review we present the available information on the dermoscopic diagnosis of body hair disorders including keratosis pilaris, trichostasis spinulosa, pili multigemini, circle hairs, rolled hairs, eruptive vellus hair cyst, and ingrown hairs. Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  1. The Diagnostic importance of clinical and radiologic features of the Multiple Cemento-osseous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Han, M. R.; Kim, Y. H.; Kang, B. C. [College of Dentistry, Chonam National University, Kwangju (Korea, Republic of)

    1998-02-15

    This case was diagnosed as multiple cementoosseous dysplasia on the basis of clinical and radiological features but was diagnosed as ossifying fibroma on the basis of histopathological feature. The histopathologic features of the multiple cementoosseous dysplasia and cementoossifying fibroma have common features of cementum, fibrous network and bone. Multiple cementoosseous dysplasia is reactive lesion and shows restricted lesion size, occurred on anterior and posterior tooth of the mandible and needs no treatment except periodic follow up. But Cementoossifying fibroma is the true neoplasm and grows continuously and needs surgical removal. The final diagnosis of the multiple cementoosseous dysplasia requires good correlation of the clinical histopathological, and radiological features.

  2. Neurocognitive impairment in plwha: clinical features and assessment

    African Journals Online (AJOL)

    People with HAND have impairment on multiple cognitive domains, including attention, concentration, memory, executive function, motor functioning and speed of information processing, and sensory perceptual/motor skills deficits. The milder forms of HAND are easily missed. Diagnosis can be made on clinical grounds in ...

  3. Risk Factors, Clinical Features and Management Of Children With ...

    African Journals Online (AJOL)

    In spite of the diarrhoeal disease control Programme of WHO and campaign efforts of the Nigerian government in the prevention and management ofdiarrhoea, the disease still remains a major causes of death among children under 5 years in Nigerian. Hence this study was aimed at assessing the risk factors, clinical ...

  4. Latex allergy at Groote Schuur hospital prevalence, clinical features ...

    African Journals Online (AJOL)

    Workers who were symptomatic had Immunocap RAST (CAP RAST) or skin-prick tests to confirm latex sensitivity. Latexavoidance measures were implemented in positive subjects. One hundred symptomatic, sensitised individuals were followed up 3 months after intervention to assess their clinical status. A further cohort of ...

  5. Clinical Features, Complications and Treatment Outcome of Brucella ...

    African Journals Online (AJOL)

    Erah

    Purpose: Brucellosis is a multi-systemic infection that is endemic in some parts of the world. The purpose of this study was to examine the epidemiology as well as the clinical and haematological characteristics, complications, and treatment outcome of patients with brucellosis at the King Fahd. Hospital of the University ...

  6. Clinical Features, Complications and Treatment Outcome of Brucella ...

    African Journals Online (AJOL)

    Purpose: Brucellosis is a multi-systemic infection that is endemic in some parts of the world. The purpose of this study was to examine the epidemiology as well as the clinical and haematological characteristics, complications, and treatment outcome of patients with brucellosis at the King Fahd Hospital of the University ...

  7. Clinical features of diabetes retinopathy in elderly patients with type ...

    African Journals Online (AJOL)

    2014-11-29

    Nov 29, 2014 ... Objective: The objective was to estimate the prevalence and clinical characteristics of diabetes retinopathy (DR) in elderly individuals with type 2 diabetes mellitus in Northern Chinese. Materials and Methods: 595 eligible subjects (263 men, 332 women) assisted by the community health service center.

  8. Clinical and biochemical features of acute viral hepatitis | Spearman ...

    African Journals Online (AJOL)

    Viral hepatitis is a major cause of mortality and morbidity worldwide. Acute viral hepatitis, although a generalised systemic infection, presents with clinical manifestations relating directly to inflammation of the liver with hepatocellular dysfunction and jaundice. The most important causes of acute and chronic hepatitis are the ...

  9. Triploid pregnancies, genetic and clinical features of 158 cases

    DEFF Research Database (Denmark)

    Joergensen, Mette W; Niemann, Isa; Rasmussen, Anders A

    2014-01-01

    OBJECTIVE: The purpose of this study was to analyze the correlation between the genetic constitution and the phenotype in triploid pregnancies. STUDY DESIGN: One hundred fifty-eight triploid pregnancies were identified in hospitals in Western Denmark from April 1986 to April 2010. Clinical data a...

  10. Socio-Demographic and Clinical features of Adolescents Attending ...

    African Journals Online (AJOL)

    Conclusion: In view of large number of adolescent who attended the out-patient psychiatric clinic of this hospital, it was concluded that government should lay more emphasis on the improvement of the mental health status of adolescents by creating an enabling socio-economic environment through better youth employment ...

  11. Key Clinical Features to Identify Girls with "CDKL5" Mutations

    Science.gov (United States)

    Bahi-Buisson, Nadia; Nectoux, Juliette; Rosas-Vargas, Haydee; Milh, Mathieu; Boddaert, Nathalie; Girard, Benoit; Cances, Claude; Ville, Dorothee; Afenjar, Alexandra; Rio, Marlene; Heron, Delphine; Morel, Marie Ange N'Guyen; Arzimanoglou, Alexis; Philippe, Christophe; Jonveaux, Philippe; Chelly, Jamel; Bienvenu, Thierry

    2008-01-01

    Mutations in the human X-linked cyclin-dependent kinase-like 5 ("CDKL5") gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of…

  12. Clinical and audiometric features of presbycusis in Nigerians ...

    African Journals Online (AJOL)

    Background: Presbycusis is the most common sensory impairment associated with ageing and it presents with variability of symptoms. Physicians need to recognize early clinical and audiometric signs of presbycusis in order to render adequate and quality care to patients and reduce associated morbidities. Objective: To ...

  13. Clinical features of acute myocardial infarction: A report from Halibet ...

    African Journals Online (AJOL)

    studies have reported low disease burden from AMI in. Africa, and the scarcity has been largely ... factors and non-modifiable factors (age, gender, family history of CHD) are the ... Methods: Clinical records of all confirmed cases of AMI admitted to Halibet Hospital in Asmara, Eritrea, were reviewed, criteria for diagnosis set ...

  14. Clinical features of diabetes retinopathy in elderly patients with type ...

    African Journals Online (AJOL)

    2014-11-29

    Nov 29, 2014 ... Objective: The objective was to estimate the prevalence and clinical characteristics of diabetes retinopathy (DR) in ... Conclusions: Diabetes retinopathy in elderly diabetes patients in Northern Chinese is prevalent and associated with ..... Chennai Urban Rural Epidemiology Study (CURES) Eye Study 4.

  15. PATTERN OF CLINICAL FEATURES OF CHRONIC SIMPLE RHINO-'

    African Journals Online (AJOL)

    hearing impairment, tinnitus, photophobia, eye pain, dental pain, sore throat, cough and hoarseness 1'6. The symptom complex for each patient is different. Diagnosis of this disease is done largely on clinical grounds. Serological, immunological and radiological tests are useful for confirmation and determining the extent of ...

  16. Clinical Features and Patterns of Imaging in Cerebral Venous Sinus ...

    African Journals Online (AJOL)

    ... pregnancy, puerperium and oral contraceptive use. The most common clinical finding in patients with CVST is headache, followed by seizures, neck pain, neurological deficits and visual disturbance. Infective cause is much more common in our population and other developed countries compared to the developed world.

  17. Clinical Features of Primary Glaucoma in South East Nigeria ...

    African Journals Online (AJOL)

    Background: The clinical course of glaucoma depends on the type, onset, severity and response to treatment. The intraocular pressure and heredity also play a role in its presentation as members of the same family tend to have the same type of glaucoma. This paper seeks to address the problem of primary open angle ...

  18. Clinical and pathological features of papillary renal cell carcinoma ...

    African Journals Online (AJOL)

    M.M. Gargouri

    2016-08-21

    Aug 21, 2016 ... M.M. Gargouri et al. Conclusion: PRCC represents the second most common histological type of renal cancer. It has no clinical ... cancer at our institution were diagnosed with PRCC. Data were obtained from the .... Delahunt B, Brunelli M, et al. Molecular genetic evidence for the independent origin of multi-.

  19. Clinical features of diabetes retinopathy in elderly patients with type ...

    African Journals Online (AJOL)

    Objective: The objective was to estimate the prevalence and clinical characteristics of diabetes retinopathy (DR) in elderly individuals with type 2 diabetes mellitus in Northern Chinese. Materials and Methods: 595 eligible subjects (263 men, 332 women) assisted by the community health service center in Beijing, China ...

  20. Clinical and ultrasonographic features of amoebic liver abscess In a ...

    African Journals Online (AJOL)

    ... of the liver while 5 were on the left lobe. Entamoeba Histolytica were absent in the stool of 17 patients with amebic liver abscess. Conclusion: The triad of fever, hepatomegaly and jaundice remains the classical presentation of amoebic liver abscess.. Response to metronidazole monotherapy was quite clinical effective.

  1. Clinical and haematological features of stress induced Babesiusis in ...

    African Journals Online (AJOL)

    Studies on actively stressedB. equi infected premuned indigenous polo horses, manifested severe clinical syndromes characterised by partial anorexia, hyperthermia, lethergy, extreme weakness, marked dehydration, ecchymotic third eye lid, pale mucous membranes, sternal recumbency and coma. Some horses showed ...

  2. Obsessive compulsive symptoms in schizophrenia: frequency and clinical features.

    Science.gov (United States)

    Byerly, Matthew; Goodman, Wayne; Acholonu, Wilfred; Bugno, Rhiannon; Rush, A John

    2005-07-15

    Prior studies have evaluated the occurrence and clinical effects of obsessive-compulsive (OC) symptoms in schizophrenia with varied results. This study systematically assessed the frequency and clinical impact of OC symptoms among outpatients with schizophrenia and schizoaffective disorder. One hundred subjects with schizophrenia or schizoaffective disorder were evaluated with a 20-question detailed screen for the presence of OC symptoms. The severity of OC symptoms was assessed with the Yale Brown Obsessive-Compulsive Scale (Y-BOCS). Fifty-eight patients participated in subsequent assessments comparing schizophrenia severity (Positive and Negative Syndrome Scale) functional status (Social and Occupational Functioning Scale) and resource utilization (psychiatric hospitalization) of OC (N=21) and non-OC (N=37) patients. Thirty percent of patients exhibited two or more OC symptoms, and 19% had at least moderate OC symptoms (Y-BOCS score >or= 16). Twenty-three percent met full DSM-IV criteria for OCD. There were no differences observed between the OC and non-OC groups on any of the clinical outcomes. OC symptoms were developed prior to the onset of schizophrenia in only 28% of patients. Nearly one-third of patients exhibited clinically significant OC symptoms in this systematic, cross-sectional assessment. However, OC symptoms did not appear to impact the clinical outcome of patients. In most cases, OC symptoms began concurrently with or after the onset of the psychotic disorder. Studies are needed to define the relevance and pathological basis for the co-occurrence of OC symptoms in persons with schizophrenia.

  3. Clinical features and multidisciplinary approaches to dementia care

    Science.gov (United States)

    Grand, Jacob HG; Caspar, Sienna; MacDonald, Stuart WS

    2011-01-01

    Dementia is a clinical syndrome of widespread progressive deterioration of cognitive abilities and normal daily functioning. These cognitive and behavioral impairments pose considerable challenges to individuals with dementia, along with their family members and caregivers. Four primary dementia classifications have been defined according to clinical and research criteria: 1) Alzheimer’s disease; 2) vascular dementias; 3) frontotemporal dementias; and 4) dementia with Lewy bodies/Parkinson’s disease dementia. The cumulative efforts of multidisciplinary healthcare teams have advanced our understanding of dementia beyond basic descriptions, towards a more complete elucidation of risk factors, clinical symptoms, and neuropathological correlates. The characterization of disease subtypes has facilitated targeted management strategies, advanced treatments, and symptomatic care for individuals affected by dementia. This review briefly summarizes the current state of knowledge and directions of dementia research and clinical practice. We provide a description of the risk factors, clinical presentation, and differential diagnosis of dementia. A summary of multidisciplinary team approaches to dementia care is outlined, including management strategies for the treatment of cognitive impairments, functional deficits, and behavioral and psychological symptoms of dementia. The needs of individuals with dementia are extensive, often requiring care beyond traditional bounds of medical practice, including pharmacologic and non-pharmacologic management interventions. Finally, advanced research on the early prodromal phase of dementia is reviewed, with a focus on change-point models, trajectories of cognitive change, and threshold models of pathological burden. Future research goals are outlined, with a call to action for social policy initiatives that promote preventive lifestyle behaviors, and healthcare programs that will support the growing number of individuals affected by

  4. Early-Onset Psychoses: Comparison of Clinical Features and Adult Outcome in 3 Diagnostic Groups

    Science.gov (United States)

    Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo

    2009-01-01

    A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a…

  5. Diagnosis of Distant Metastasis of Lung Cancer: Based on Clinical and Radiomic Features

    Directory of Open Access Journals (Sweden)

    Hongyu Zhou

    2018-02-01

    Full Text Available OBJECTIVES: To analyze the distant metastasis possibility based on computed tomography (CT radiomic features in patients with lung cancer. METHODS: This was a retrospective analysis of 348 patients with lung cancer enrolled between 2014 and February 2015. A feature set containing clinical features and 485 radiomic features was extracted from the pretherapy CT images. Feature selection via concave minimization (FSV was used to select effective features. A support vector machine (SVM was used to evaluate the predictive ability of each feature. RESULTS: Four radiomic features and three clinical features were obtained by FSV feature selection. Classification accuracy by the proposed SVM with SGD method was 71.02%, and the area under the curve was 72.84% with only the radiomic features extracted from CT. After the addition of clinical features, 89.09% can be achieved. CONCLUSION: The radiomic features of the pretherapy CT images may be used as predictors of distant metastasis. And it also can be used in combination with the patient's gender and tumor T and N phase information to diagnose the possibility of distant metastasis in lung cancer.

  6. LEPROSY NEPHROPATHY: A REVIEW OF CLINICAL AND HISTOPATHOLOGICAL FEATURES

    Directory of Open Access Journals (Sweden)

    Geraldo Bezerra da Silva Junior

    2015-02-01

    Full Text Available Leprosy is a chronic disease caused by Mycobacterium leprae, highly incapacitating, and with systemic involvement in some cases. Renal involvement has been reported in all forms of the disease, and it is more frequent in multibacillary forms. The clinical presentation is variable and is determined by the host immunologic system reaction to the bacilli. During the course of the disease there are the so called reactional states, in which the immune system reacts against the bacilli, exacerbating the clinical manifestations. Different renal lesions have been described in leprosy, including acute and chronic glomerulonephritis, interstitial nephritis, secondary amyloidosis and pyelonephritis. The exact mechanism that leads to glomerulonephritis in leprosy is not completely understood. Leprosy treatment includes rifampicin, dapsone and clofazimine. Prednisone and non-steroidal anti-inflammatory drugs may be used to control acute immunological episodes.

  7. CLINICAL AND MORPHOLOGICAL FEATURES OF HEREDITARY OVARIAN CANCER

    Directory of Open Access Journals (Sweden)

    K. B. Kotiv

    2017-01-01

    Full Text Available Germ-line mutations in BRCA1 and BRCA2 genes are the most established risk factors for hereditary breast and ovarian cancers. The purpose of the study was to analyze BRCA1/2 testing in ovarian cancer patients. Materials and methods. We analyzed 222 patients with ovarian cancer (OC who underwent genetic testing. Results. Recurrent Slavic mutations in these genes were detected in 60/222 (27% patients.104 patients lacked any clinical signs of hereditary form of the disease, however BRCA1/2 genetic defects were identified among 11 (11% of these women. BRCA1/2-associated carcinomas were characterized by more advanced stage at diagnosis and predominance of high-grade serous histological tumor subtype. Conclusion. These results emphasize the need for BRCA1/2 testing for all patients with OC. BRCA1/2-associated carcinomas have clinical and pathological cgaracteristics, which should be considered while planning therapy. 

  8. Clinical feasibility of rapid confocal melanoma feature detection

    Science.gov (United States)

    Hennessy, Ricky; Jacques, Steve; Pellacani, Giovanni; Gareau, Daniel

    2010-02-01

    In vivo reflectance confocal microscopy shows promise for the early detection of malignant melanoma. One diagnostic trait of malignancy is the presence of pagetoid melanocytes in the epidermis. For automated detection of MM, this feature must be identified quantitatively through software. Beginning with in vivo, noninvasive confocal images from 10 unequivocal MMs and benign nevi, we developed a pattern recognition algorithm that automatically identified pagetoid melanocytes in all four MMs and identified none in five benign nevi. One data set was discarded due to artifacts caused by patient movement. With future work to bring the performance of this pattern recognition technique to the level of the clinicians on difficult lesions, melanoma diagnosis could be brought to primary care facilities and save many lives by improving early diagnosis.

  9. Clinical Features of 294 Turkish Patients with Chronic Myeloproliferative Neoplasms

    OpenAIRE

    Neslihan Andıç; Mustafa Ünübol; Eren Yağcı; Olga Meltem Akay; İrfan Yavaşoğlu; Vefki Gürhan Kadıköylü; Ali Zahit Bolaman

    2016-01-01

    Objective: Myeloproliferative neoplasms (MPNs) share common clonal stem cells but show significant differences in their clinical courses. The aim of this retrospective study was to evaluate thrombotic and hemorrhagic complications, JAK2 status, gastrointestinal and cardiac changes, treatment modalities, and survival in MPNs in Turkish patients. Materials and Methods: Medical files of 294 patients [112 essential thrombocythemia (ET), 117 polycythemia vera (PV), 46 primary myelofibrosis, and 19...

  10. Acute hepatitis E presenting with clinical feature of autoimmune hepatitis

    OpenAIRE

    Patel, Ishan; Ching Companioni, Rafael; Bansal, Raghav; Vyas, Neil; Catalano, Carmine; Aron, Joshua; Walfish, Aaron

    2016-01-01

    A 32-year-old immigrant man presented with new onset jaundice. His past medical history was significant for type 2 diabetes mellitus, hypertension, and hyperlipidemia. His initial laboratory finding and liver biopsy were suggestive of autoimmune hepatitis (AIH). The plan was to start steroids pending negative results for viral serology, but it came back positive for hepatitis E virus. The patient’s liver function test and clinical condition improved significantly on conservative management ov...

  11. Atypical lymphoproliferative disorder-clinical and pathological features

    OpenAIRE

    Wilmas, Kelly; Duvic, Madeleine; Oki, Yasuhiro

    2016-01-01

    Definitive diagnosis of cutaneous lymphoproliferative disorders is one of the most challenging issues in dermatopathology owing to the broad spectrum of clinical and histopathological presentations. We report a case of a 73-year-old woman who presented with a single, asymptomatic plaque limited to her left collarbone. This was followed by the appearance of several plaques and patches in addition to a tumor. Her initial biopsy suggested a CD4/CD8 double negative mycosis fungoides (MF). However...

  12. Clinical and audiometric features of presbycusis in Nigerians.

    Science.gov (United States)

    Sogebi, O A; Olusoga-Peters, O O; Oluwapelumi, O

    2013-12-01

    Presbycusis is the most common sensory impairment associated with ageing and it presents with variability of symptoms. Physicians need to recognize early clinical and audiometric signs of presbycusis in order to render adequate and quality care to patients and reduce associated morbidities. To characterize the clinical modes of presentation and the typical audiometric tracings among patients with presbycusis. This descriptive, prospective hospital-based study was conducted in the Ear, Nose and Throat (ENT) clinic of Olabisi Ona hing Hospital, (OOUTH) Sagamu, Nigeria. Patients with clinical diagnosis of presbycusis confirmed with bilateral sensorineural hearing loss (SNHL) on diagnostic audiometry were administered with questionnaires. Information obtained was analyzed using SPSS statistical package version 17.0 and presented in descriptive forms as percentages, means and graphs. Sixty-nine patients were diagnosed with presbycusis (M:F =1.6:1). Modal age group was 71-80 years. Hearing loss 88.4%, tinnitus 79.7% and vertigo 33.3% were the major symptoms on presentation. The average duration of symptoms before presentation was 2.6 years. There was positive history of ototoxic drugs usage in 24.6 %, family history in 11.6 %, hypertension in 34.8% and osteoarthritis in 13.0%. The most common type of audiometric pattern was strial. Hearing losses increased with age both at the speech and at the higher frequencies of sounds. We found hearing impairment affected both speech and higher frequencies and the strial type of audiometric pattern was most common. The need for screening for hearing impairment from early middle age in symptomatic individuals is emphasized.

  13. CLINICAL AND PATHOHISTOLOGICAL FEATURES OF BREAST CANCER IN ELDERLY WOMEN

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    Dragana Buđevac

    2005-12-01

    Full Text Available Breast cancer in elderly women is the major health issue and therapeutic challenge. The aim of the study was to determine specific characteristics of breast cancer biology in elderly patients. Retrospectively, we followed: breast cancer clinical and pathohistological characteristics of patients treated during the 5-year period at the Surgical Clinic in Nis. Patients were divided into study (≥65 years and control group (<65 years The study involved 1098 women (431 from the study group; 667 from the control group. The mean age was 71, 3 years in the study group, and 50, 7 years in the control group. Ductal carcinoma was the most frequently observed histological early-stage type (70,3% vs. 61,92%; p = 0.5236. The majority of our patients presented with an early-stage disease (69,02% vs. 60,20%. Estrogen receptor positive tumors occurred in 67.88% of elderly patients versus 28.42% of young cases (p < 1x10-8, while negative axillary lymph nodes were observed in 45,78% and 34,40% of patients in the elderly and young group, respectively. There are some clinical and pathohistological breast cancer specifics in elderly patients. This study showed similar pathohistological tumor characteristics. Our results confirm that elderly patients present with more favorable prognostic factors (estrogen receptor positive tumors, negative axillary lymph nodes.

  14. Somatization in major depression--clinical features and genetic associations.

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    Klengel, T; Heck, A; Pfister, H; Brückl, T; Hennings, J M; Menke, A; Czamara, D; Müller-Myhsok, B; Ising, M

    2011-10-01

    To identify clinical variables and genetic variations within monoaminergic genes known to be implicated in pain perception that are associated with the occurrence of somatization symptoms in patients with major depression. Somatization was evaluated using the respective subscale of the Symptom Checklist SCL-90-R. Six monoaminergic genes were identified showing an involvement in pain perception and somatization according to the literature: COMT, HTR2A, SLC6A2, SLC6A4, DRD4, and TPH1. One hundred and eighteen single nucleotide polymorphisms (SNPs) within these genes were genotyped using Illumina BeadChips in a sample of 398 at least moderately to severely depressed in-patients participating in the Munich Antidepressant Response Signature (MARS) project. Thirty SNPs exhibit nominally significant associations with somatization. One SNP (rs9534505) located in intron 2 of the HTR2A gene withstood correction for multiple testing. Clinical data provide further evidence for strong impact of somatization on the presentation of depressive symptoms and description of a patient subgroup with unfavorable clinical outcome. Our results demonstrate the influence of a HTR2A polymorphism on aspects of somatization in major depression, which co-occurs with an unfavorable antidepressant treatment outcome. These results confirm and expand previous findings on somatization as a risk factor for treatment outcome in major depression. © 2011 John Wiley & Sons A/S.

  15. Whipple's disease. Report of five cases with different clinical features

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    FERRARI Maria de Lourdes de Abreu

    2001-01-01

    Full Text Available Whipple's disease (WD is a rare systemic disease of infectious etiology which involves the small intestine but can virtually affect any organ. We present here five cases (four males and one female ranging in age from 20 to 59 years. All patients had intestinal involvement associated or not with clinical manifestations linked to this organ. Vegetation in the tricuspid valve was observed in one patient, suggesting endocarditis caused by Tropheryma whippelii, with disappearance of the echocardiographic alterations after treatment. In one of the male patients the initial clinical manifestation was serologically negative spondylitis, with no diarrhea occurring at any time during follow-up. Ocular involvement associated with intestinal malabsorption and significant weight loss were observed in one case. In the other two cases, diarrhea was the major clinical manifestation. All patients were diagnosed by histological examination of the jejunal mucosa and, when indicated, of extraintestinal tissues by light and electron microscopy. After antibiotic treatment, full remission of symptoms occurred in all cases. A control examination of the intestinal mucosa performed after twelve months of treatment with sulfamethoxazole-trimethoprim revealed the disappearance of T. whippelii in four patients. The remaining patient was lost to follow-up.

  16. Clinical, Demographic and Laboratory Features of Children with Alopecia Areata

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    Nursel Dilek

    2014-09-01

    Full Text Available Objective: Alopecia areata (AA is an inflammatory skin disease with an unknown etiology and characterized by loss of hair without scar formation. In this study we aimed to investigate the clinical and demographic characteristics of pediatric patients with AA. Methods: Clinical data of 131 children patients with AA who admitted to Dermatology Department of Recep Tayyip Erdogan University Training and Research Hospital in July 2010-July 2013 period were analyzed retrospectively. Results: Age of patients were between 2-16 years. Seventy four of 131 patients (56.5% were males and 57 (43.5% were females and the mean age was 8.95±3.85 years. 28 of the patients (21.4% had a history of atopy and were highly correlated with the severity of AA (p=0.00. The severity of AA was found to be associated with duration of the disease (p=0.02. A significant correlation was found between the severity of AA and nail involvement (p=0.00. Anemia was detected in 20.5% of the patients but this finding was not related to with severity of AA (p>0.05. Conclusion: In the child who admitted to our clinic with AA, the extensiveness of the lesions were less than 25%. The duration of AA, presence of atopy, and the nail involvement are associated with the severity of AA. There is no relationship between anemia and the severity of AA.

  17. Tuberculous spondylodiscitis: epidemiology, clinical features, treatment, and outcome.

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    Trecarichi, E M; Di Meco, E; Mazzotta, V; Fantoni, M

    2012-04-01

    Tuberculous spondylodiscitis (TS) is a rare but serious clinical condition which may lead to severe deformity and early or late neurological complications. To discuss certain aspects of the approach to TSs, focusing upon epidemiology, diagnosis, and treatment outcome. For the purpose of this review, a literature search was performed using the Pubmed database through to 19th October 2011 to identify studies published in the last 20 years, concerned in epidemiological, clinical, diagnostic, and therapeutical aspects of TS in adults. Only studies drafted in English language and reporting case series of more than 20 patients have been included. TS has been reported to accounts for 1-5% of all TB cases, and for about 50% of the cases of articulo-skeletal TB infections. Despite the actual availability of more effective diagnostic tools, early recognition of TS remains difficult and a high index of suspicion is needed due to the chronic nature of the disease and its insidious and variable clinical presentation. A prompt diagnosis is required to improve long term outcome, and a microbiological confirmation is recommended to enable appropriate choice of anti-mycobacterial agents. Surgery has an important role in alleviating pain, correcting deformities and neurological impairment, and restoring function. Further studies are required to assess the appropriate duration of anti-microbial treatment, also in regarding of a combined surgical approach.

  18. Evaluation of Clinical Features of Female Patients with Macroprolactinemia

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    Göksun Ayvaz

    2011-09-01

    Full Text Available Aim: Macroprolactin is a high-molecular-weight form of prolactin. It has been suggested that macroprolactin has no clinical importance because of its decreased or limited bioactivity. Although screening for macroprolactinemia is recommended especially in patients with idiopathic hyperprolactinemia; recent studies reported that patients with macroprolactinemia may have some hyperprolactinemia symptoms. Currently, the causes of the symptoms as well as the treatment and follow-up of this group of patients are not clear. In our study, we aimed to retrospectively evaluate and compare the clinical characteristics and gonadal hormone levels of patients with macroprolactinemia and hyperprolactinemia.Materials and Methods: Forty patients with macroprolactinemia and 15 patients with hyperprolactinemia who referred to Obstetrics and Gynecology Hospital were examined.Results: We observed that the patients with macroprolactinemia had similar menstrual disturbances (oligomenorrhea/amenorrhea to the patients with hyperprolactinemia. There was no statistically significant difference between the two groups with respect to FSH, LH and estradiol levels. The frequencies of galactorrhea (p=0.002, headache (p=0.04 and positive radiological finding (p=0.001 were higher in patients with hyperprolactinemia. Infertility rate was found to be increased in women with macroprolactinemia (p=0.02.Conclusion: Patients with macroprolactinemia may have very similar clinic symptoms to those with hyperprolactinemia. Therefore, macroprolactin levels should be measured regardless of the symptoms of hyperprolactinemia in patients with elevated prolactin levels. Türk Jem 2011; 15: 62-5

  19. Clinical features and diagnosis of epidermolysis bullosa acquisita.

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    Vorobyev, Artem; Ludwig, Ralf J; Schmidt, Enno

    2017-02-01

    Epidermolysis bullosa acquisita (EBA) is a rare autoimmune blistering disease of skin and mucous membranes. EBA is caused by autoantibodies against type VII collagen, which is a major component of anchoring fibrils, attaching epidermis to dermis. Binding of autoantibodies to type VII collagen leads to skin fragility and, finally, blister formation. The clinical picture of EBA is polymorphic, with several distinct phenotypes being described. Despite recent progress in understanding the pathophysiology of EBA, its diagnosis is still challenging. Areas covered: This review provides an update on the clinical manifestations and diagnostic methods of EBA. We searched PubMed using the terms 'epidermolysis bullosa acquisita' covering articles in English between 1 January 2005 and 31 May 2016. Relevant older publications were retrieved form cited literature. Expert commentary: While the clinical picture is highly variable, diagnosis relies on direct immunofluorescence (IF) microscopy of a perilesional skin biopsy. Linear deposits of IgG, IgA and/or C3 along the dermal-epidermal junction with an u-serrated pattern are diagnostic for EBA alike the detection of serum autoantibodies against type VII collagen. Several test systems for the serological diagnosis of EBA have recently become widely available. In some patients, sophisticated diagnostic approaches only available in specialized centers are required.

  20. Clinical features and genetic analysis of tuberous sclerosis pedigrees

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    LI Ya-qin

    2012-06-01

    Full Text Available Objective In order to understand tuberous sclerosis complex better, the clinical manifestation, imaging characteristics, and genetic characteristics of tuberous sclerosis complex from 3 pedigrees were investigated. Methods The clinical data of patients from 3 tuberous sclerosis families were collected. The gene mutation type of TSC2 of proband in pedigree one was determined by PCR and direct gene sequencing. Results All of the 3 probands went to our clinic for the reason of epilepsy. Brain imaging examination noted intracranial nodular calcification. EEG showed comprehensive spines and slow waves, sharp waves. The pedigree 1 has family history, two male patients and 3 female patients, all had facial angiofibromas and epilepsy. Gene mutation analysis of TSC2 demonstrated the c.1444-2A > C mutation in index patient. All the 3 index patients had mental retardation, autism and hypopigmented macule. Conclusion For infants and young children with epilepsy as the first symptom, accompanied by mental retardation, autism, facial angiofibromas or hypopigmented macule and other skin abnormalities, brain imaging examination noted intracranial nodular calcification are highly suggestive of tuberous sclerosis complex. TSC1 and TSC2 gene analysis contribute to the diagnosis of this disease, genentic counseling and prenatal diagnosis.

  1. The early clinical features of dengue in adults: challenges for early clinical diagnosis.

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    Jenny G H Low

    Full Text Available BACKGROUND: The emergence of dengue throughout the tropical world is affecting an increasing proportion of adult cases. The clinical features of dengue in different age groups have not been well examined, especially in the context of early clinical diagnosis. METHODOLOGY/PRINCIPAL FINDINGS: We structured a prospective study of adults (≥ 18 years of age presenting with acute febrile illness within 72 hours from illness onset upon informed consent. Patients were followed up over a 3-4 week period to determine the clinical outcome. A total of 2,129 adults were enrolled in the study, of which 250 (11.7% had dengue. Differences in the rates of dengue-associated symptoms resulted in high sensitivities when the WHO 1997 or 2009 classification schemes for probable dengue fever were applied to the cohort. However, when the cases were stratified into age groups, fewer older adults reported symptoms such as myalgia, arthralgia, retro-orbital pain and mucosal bleeding, resulting in reduced sensitivity of the WHO classification schemes. On the other hand, the risks of severe dengue and hospitalization were not diminished in older adults, indicating that this group of patients can benefit from early diagnosis, especially when an antiviral drug becomes available. Our data also suggests that older adults who present with fever and leukopenia should be tested for dengue, even in the absence of other symptoms. CONCLUSION: Early clinical diagnosis based on previously defined symptoms that are associated with dengue, even when used in the schematics of both the WHO 1997 and 2009 classifications, is difficult in older adults.

  2. Pathogenesis of Ovarian Clear Cell Adenofibroma, Atypical Proliferative (Borderline Tumor, and Carcinoma: Clinicopathologic Features of Tumors with Endometriosis or Adenofibromatous Components Support Two Related Pathways of Tumor Development

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    Chengquan Zhao, Lee Shu-Fune Wu, Ross Barner

    2011-01-01

    Full Text Available The clinicopathologic features of 472 ovarian epithelial clear cell neoplasms (4 adenofibromas [AFs], 41 atypical proliferative [borderline] tumors [APTs], and 427 carcinomas [CAs] were studied in order to elucidate the morphologic steps involved in the pathogenesis of these tumors and determine whether clear cell CA is a type I or type II tumor in the dualistic model of ovarian carcinogenesis. Thirty-three percent of the CAs had an adenofibromatous background [CA(AF+], and 67% did not [CA(AF-]. Endometriosis was found in all types of tumors, but tumors arising in endometriotic cysts were more frequent with CA(AF-s (p<0.0001. The subset of women with CA(AF-s with endometriosis were younger (p<0.0001, their tumors were more frequently cystic (p<0.0001, they more commonly had a mixed carcinoma component of non-clear cell type (p=0.006, and they were more frequently oxyphilic (p=0.015 compared with CA(AF+s. The architecture of the former tumors was more commonly papillary compared to tubulocystic in the latter (p=0.0006. Atypical endometriosis was more common in CA(AF-s than in AFs, APTs, and CC(AF+s [p=0.004]. The subset of CA(AF-s without endometriosis presented more frequently in advanced stage (>I and were higher grade compared to CA(AF+s or CA(AF- with endometriosis (p-values, <0.0001 to 0.0071. All AFs and APTs were stage I compared to 79% of CA(AF+s. An increase in mean tumor size correlated with each respective tumor category from AF (6.8 cm to CA(AF+ [12.9 cm]. Notable nuclear atypia was absent in all AFs but was focally present in 27% of APTs and in the adenofibromatous background of 24% of the CA(AF+s. An increase in the proportion of carcinoma in the CA(AF+s correlated with an increase in grade and advanced stage. In summary, ovarian clear cell CA appears to develop along two pathways, both of which are related to endometriosis. We speculate that, in one, epithelial atypia arises in an endometriotic cyst and then evolves into clear cell

  3. The clinical and prognostic correlation of HRNPM and SLC1A5 in pathogenesis and prognosis in epithelial ovarian cancer.

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    Bjersand, Kathrine; Seidal, Tomas; Sundström-Poromaa, Inger; Åkerud, Helena; Skirnisdottir, Ingiridur

    2017-01-01

    To evaluate the prognostic effect of the Heterogeneous nuclear ribonucleoprotein type M (HNRPM) and Solute carrier 1A5 (SLC1A5) in FIGO-stages I-II epithelial ovarian cancer. A retrospective cohort study was designed to investigate the prognostic effect of HNRPM and SLC1A5, and the association with clinical-pathologic characteristics in 131 patients with FIGO-stages I-II epithelial ovarian cancer. Tissue microarrays were constructed and protein levels were assessed by immunohistochemistry (IHC). Positive HRNPM status was associated with positive staining for PUMA (P = 0.04), concomitant PUMA and p21 staining (P = 0.005), and VEGF-R2 (P = 0.003). Positive SLC1A5 staining was associated with positive staining of p27 (P = 0.030), PUMA (P = 0.039), concomitant PUMA and p27 staining, and VEGF-R2 (P = 0.039). In non-serous tumors (n = 72), the SLC1A5 positivity was associated with recurrent disease (P = 0.01). In a multivariable logistic regression analysis FIGO-stage (OR = 12.4), tumor grade (OR = 5.1) and SLC1A5 positivity (OR = 0.1) were independent predictive factors for recurrent disease. Disease-free survival (DFS) in women with SLC1A5-positive non-serous tumors was 92% compared with of 66% in patients with SLC1A5-negative non-serous tumors (Log-rank = 15.343; P = 0.008). In Cox analysis with DFS as endpoint, FIGO-stage (HR = 4.5) and SLC1A5 status (HR = 0.3) were prognostic factors. As the proteins HRNPM and SLC1A5 are associated with the cell cycle regulators p21 or p27, the apoptosis regulators PTEN and PUMA, and the VEGF-R2 it is concluded that both proteins have role in the pathogenesis of ovarian cancer. In patients with non-serous ovarian cancer SLC1A5 protects from recurrent disease, presumably by means of biological mechanisms that are unrelated to cytotoxic drug sensitivity.

  4. Clinical Features of Alzheimer Disease With and Without Lewy Bodies

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    Chung, Eun Joo; Babulal, Ganesh M.; Monsell, Sarah E.; Cairns, Nigel J.; Roe, Catherine M.; Morris, John C.

    2015-01-01

    IMPORTANCE Lewy bodies are a frequent coexisting pathology in late-onset Alzheimer disease (AD). Previous studies have examined the contribution of Lewy bodies to the clinical phenotype of late-onset AD with variable findings. OBJECTIVE To determine whether the presence of Lewy body pathology influences the clinical phenotype and progression of symptoms in longitudinally assessed participants with AD. DESIGN, SETTING, AND PARTICIPANTS Retrospective clinical and pathological cohort study of 531 deceased participants who met the neuropathologic criteria for intermediate or high likelihood of AD according to the National Institute on Aging–Ronald Reagan Institute guidelines for the neuropathologic diagnosis of AD. All participants had a clinical assessment within 2 years of death. The data were obtained from 34 AD centers maintained by the National Alzheimer Coordinating Center and spanned from September 12, 2005, to April 30, 2013. EXPOSURES Standardized neuropathologic assessment and then brain autopsy after death. MAIN OUTCOMES AND MEASURES Clinical and neuropsychiatric test scores. RESULTS The mean (SD) age at death was statistically significantly younger for participants who had AD with Lewy bodies (77.9 [9.5] years) than for participants who had AD without Lewy bodies (80.2 [11.1] years) (P = .01). The mean (SD) age at onset of dementia symptoms was also younger for participants who had AD with Lewy bodies (70.0 [9.9] years) than for participants who had AD without Lewy bodies (72.2 [12.3] years) (P = .03). More men than women had AD with Lewy bodies (P = .01). The frequency of having at least 1 APOE ε4 allele was higher for participants who had AD with Lewy bodies than for participants who had AD without Lewy bodies (P = .03). After adjusting for age, sex, education, frequency of plaques (neuritic and diffuse), and tangle stage, we found that participants who had AD with Lewy bodies had a statistically significantly higher mean (SD) Neuropsychiatric

  5. Clinical and spatial features of Zika virus in Mexico.

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    Haque, Ubydul; Ball, Jacob D; Zhang, Wenyi; Khan, Md Mobarak Hossain; Treviño C, Jesús A

    2016-10-01

    Zika virus (ZIKV) is an emerging arbovirus transmitted to humans by Aedes mosquitoes, the same vectors that transmit dengue virus and chikungunya. Recent work has suggested that prior infection with dengue could lead to more severe clinical disease in ZIKV patients. Here, we describe the spatial distribution of and clinical symptoms experienced by ZIKV cases in Mexico. We performed Fisher's Exact test and Pearson's Chi-Square tests on data from Mexico's national surveillance system on the demographic and clinical characteristics of ZIKV patients (N=84), and then a multivariate logistic regression analysis to determine demographic risk factors for patients presenting with at least 9 symptoms. We also mapped the cases to describe the spatial distribution of ZIKV in Mexico. Results from the multivariate logistic regression analysis indicate that, controlling for all covariates, sex (male) is a significant protective factor in reporting a high number of symptoms (OR=0.36, 95% CI: 0.14, 0.92), and that a one-year increase in age is associated with a 4% increase in odds of having at least 9 symptoms (95% CI: 1.00, 1.08). Spatial analysis revealed more than 50% cases reported within 50km of railways. We found that sex and age are both significant risk factors for ZIKV infection severity, using number of reported symptoms as a proxy. The presence of cases along railways indicates that transportation networks within Mexico may be relevant for the national and international spread of the disease. Copyright © 2016 Elsevier B.V. All rights reserved.

  6. The Retrospective Evaluation of Childhood Psoriasis Clinically and Demographic Features

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    Ayşe Serap Karadağ

    2013-03-01

    Full Text Available Objective: This study was aimed to define the clinical and demographic findings of psoriasis in childhood. Methods: In this retrospective study, the data from 64 children with psoriasis admitted at the our dermatology clinic between January 2007 and January 2011 were included whose data were fully. Results: Of the patients, 37 (57.8% were boys and 27 (42.2% were girls. Mean age of the children was 10.08 ±3.98 years (3-16. In 10 (15% cases, a positive family history was detected. The most frequent localizations at onset were trunk (46.9%, scalp (28.1%, knee-elbow (10.9% and extremities (7.9%, respectively. The most commonly seen clinical types were plaque (68.8%, guttate (20.3%, palmoplantar (9.4%, pustular (1.6%, respectively. Nine children had nail involvement. Out of all patients, 21.9% had upper respiratory tract infections and 9.4% had emotional stres. Four cases were diagnosed with depression. Of the cases, two cases were on non-steroid anti-inflammatory medication, and 4 of them were on antibiotics. Systemic treatments were given to 21.9% of the cases besides topical treatments. Conclusion: The epidemiological studies of psoriasis during childhood period for different countries have been reported. In this study, the ratio shows differences when compared to those previous studies. There are few epidemiologic studies for Turkey. We believe that further epidemiological studies including large number of patients' groups will contribute the diagnosis and treatment of the disease.

  7. First Chikungunya Outbreak in Suriname; Clinical and Epidemiological Features

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    van Genderen, Farah T.; Krishnadath, Ingrid; Sno, Rachel; Grunberg, Meritha G.; Zijlmans, Wilco; Adhin, Malti R.

    2016-01-01

    Background In June 2014, Suriname faced the first Chikungunya outbreak. Since international reports mostly focus on hospitalized patients, the least affected group, a study was conducted to describe clinical characteristics of mainly outpatients including children. In addition, the cumulative incidence of this first epidemic was investigated. Methodology During August and September 2014, clinically suspected Chikungunya cases were included in a prospective follow-up study. Blood specimens were collected and tested for viral RNA presence. Detailed clinical information was gathered through multiple telephone surveys until day 180. In addition, a three stage household-based cluster with a cross-sectional design was conducted in October, December 2014 and March 2015 to assess the cumulative incidence. Principal Findings Sixty-eight percent of symptomatic patients tested positive for Chikungunya virus (CHIKV). Arthralgia and pain in the fingers were distinctive for viremic CHIKV infected patients. Viremic CHIKV infected children (≤12 years) characteristically displayed headache and vomiting, while arthralgia was less common at onset. The disease was cleared within seven days by 20% of the patients, while 22% of the viremic CHIKV infected patients, mostly women and elderly reported persistent arthralgia at day 180. The extrapolated cumulative CHIKV incidence in Paramaribo was 249 cases per 1000 persons, based on CHIKV self-reported cases in 53.1% of the households and 90.4% IgG detected in a subset of self-reported CHIKV+ persons. CHIKV peaked in the dry season and a drastic decrease in CHIKV patients coincided with a governmental campaign to reduce mosquito breeding sites. Conclusions/Significance This study revealed that persistent arthralgia was a concern, but occurred less frequently in an outpatient setting. The data support a less severe pathological outcome for Caribbean CHIKV infections. This study augments incidence data available for first outbreaks in the

  8. Clinical features of gout in a cohort of Italian patients

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    M.A. Cimmino

    2011-06-01

    Full Text Available Objective: To assess the clinical characteristics of gout and its diagnostic approach in a group of Italian patients. Methods: In a retrospective analysis, we evaluated 72 consecutive gouty patients examined in the years 2000-2007.We recorded demographic data, family history, comorbidities and disease characteristics (seasonality of the attacks, joints affected, serum uric acid concentration, and treatment. Result: 63/72 (87.5% patients were men and 9 women, with mean age 61.9±13.7 years. 8/72 (11.1% patients reported a familial history of gout. The first attack occurred mainly in the months of June, July and December. The first metatarsophalangeal joint was affected in 59.7% of patients and the hand in 25%. Treatment changed over the follow- up period, with a decreased use of NSAIDs (p<0.0001 and an increased use of colchicine (p=0.015 and allopurinol (p<0.0001. In 9 (12.5% patients, joint aspiration was performed and monosodium urate crystals were found in synovial fluid or tophi. 42/72 (58.3% patients fulfilled a minimum of 6 clinical criteria of the American College of Rheumatology, necessary for gout diagnosis. 47/72 (65.3% patients, met the EULAR recommendations and had an 82% probability of being affected by gout. Conclusions: The diagnosis of gout is not always easy because of its changing clinical spectrum. Identification of MSU crystals in joint aspirates was obtained only in a minority of patients. In this setting the diagnosis with gout was often based on the observation of an acute intermittent monoarthritis involving mainly the first metatarsophlangeal joint, associated with hyperuricaemia and responsive to colchicine.

  9. Clinical features of limbic encephalitis with LGI1 antibody

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    Wang ML

    2017-06-01

    Full Text Available Meiling Wang,1,2,* Xiaoyu Cao,2,* Qingxin Liu,2 Wenbin Ma,1,2 Xiaoqian Guo,1,3 Xuewu Liu1 1Department of Neurology, Qilu Hospital of Shandong University, Jinan, 2Department of Neurology, Binzhou Medical University Hospital, Binzhou, 3Department of Neurology, Jining First People’s Hospital, Jining, Shandong, People’s Republic of China *These authors contributed equally to this work Objective: The objective of this study was to analyze the clinical manifestation, course, evolution, image manifestation, and treatments of LGI1 limbic encephalitis (LE. Patients and methods: Studies confirmed that LE with the complex antibody of voltage-gated potassium channels is LGI1 LE. Since then, LE cases have been reported. In this study, 10 typical LE cases were searched in PubMed. These cases and one additional case, which we reported herein, were retrospectively analyzed. Results: All the patients suffered from recent memory deterioration. The following cases were observed: eight with faciobrachial dystonic seizures (FBDS, six with different kinds of epileptic seizures (four complex partial seizures, one myoclonus seizure, and one generalized tonic–clonic seizure, four with FBDS and different kinds of epileptic seizures at the same time, five with mental disorders (one visual hallucination, one paranoia, one depression, one anxiety, and one dysphoria, five with hyponatremia, and two with sleep disorder. The brain MRI of nine patients revealed abnormalities in the mediotemporal lobe and the hippocampus. The LGI1 antibodies in the blood and/or cerebrospinal fluid (CSF were positive. The content of the CSF protein of two patients increased slightly. The tumor marker of all the patients was normal, but capitate myxoma was detected in the combined pancreas duct of one patient. Gamma globulin and hormone treatments were administered to nine patients. Of these patients, six received a combination of antiepileptic drugs. The clinical symptoms of all the

  10. Eruption cysts : a series of 66 cases with clinical features

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    ?en Tunç, Emine; Açikel, Hatice; ?aro?lu Sönmez, I??l; Bayrak, ?ule; Tülo?lu, Nuray

    2017-01-01

    Background An eruption cyst (EC) is a benign, developmental cyst associated with a primary or permanent tooth. This paper presents 66 ECs in 53 patients who reported to 3 different centers in Turkey between 2014-2015. Material and Methods 53 patients (31 male, 22 female) with 66 ECs were diagnosed and treated over a 1-year period. The mean age of patients was 5.4 years (minimum 5 months, maximum 11 years). Clinical examination and periapical radiographs were used to establish diagnosis. Age, ...

  11. Diagnosis and clinical features of epidermolysis bullosa acquisita.

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    Caux, Frédéric

    2011-07-01

    Epidermolysis bullosa acquisita (EBA) is a rare autoimmune subepidermal blistering disease characterized by immune deposits on anchoring fibrils of cutaneous and mucosal basement membrane zones. It is due to circulating antibodies directed to type VII collagen. Clinical manifestations include a classical form with skin fragility, blisters and scars on trauma-prone surfaces, an inflammatory form, and a cicatricial pemphigoid-like form. Specialized tests available in only certain laboratories are necessary to confirm a diagnosis of EBA, such as immunoelectron microscopy, immunoblotting, or ELISA using recombinant proteins. A frequent association between EBA and Crohn disease has been observed. Copyright © 2011 Elsevier Inc. All rights reserved.

  12. Pancreatitis before pancreatic cancer: clinical features and influence on outcome.

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    Dzeletovic, Ivana; Harrison, M Edwyn; Crowell, Michael D; Pannala, Rahul; Nguyen, Cuong C; Wu, Qing; Faigel, Douglas O

    2014-10-01

    Pancreatitis is considered a possible risk factor for and a presentation of pancreatic adenocarcinoma (PA). We aimed to evaluate a large PA patient registry to determine whether prior history of pancreatitis influenced survival. We retrospectively analyzed the Mayo Clinic Biospecimen Resource for Pancreas Research database from January 1992 to September 2011. Data collected included demographic characteristics, history of tobacco or alcohol use, diabetes mellitus (DM), cholelithiasis, pseudocyst, and details regarding PA. Clinical characteristics and outcomes of PA patients with pancreatitis were compared with PA patients without pancreatitis history. We analyzed 2573 patients with PA diagnosis. Among these patients, 195 (8%) were identified who had pancreatitis diagnosis ≥ 10 days before PA diagnosis. The cohort with pancreatitis history included more patients with DM (30% vs. 18%; Ppancreatitis history, these patients received diagnoses of PA at a younger age (63 vs. 65 y; P=0.005) and earlier stage (stages I and II; 52% vs. 37%; Ppancreatitis had more weight loss and DM, but had PA diagnosis at an earlier stage, were more likely to have pancreatic surgery, and therefore better survival than PA patients without pancreatitis, likely due to the earlier diagnosis. Further studies are needed to evaluate whether screening for PA in patients with pancreatitis history would provide survival benefit.

  13. Thalassemia: essential radiographic and clinical features of interest to dentistry

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    Luiz Roberto Coutinho Manhães Junior

    2008-01-01

    Full Text Available Thalassemia is a type of hereditary anemia that predominantly affects individuals born in or descendents of countries bathed by the Mediterranean Sea, such as Italy and Greece. Also known as Cooley’s anemia and Mediterranean anemia, the disease causes alterations in hemoglobin formation and malformations of the cranium, long bones, maxilla and mandible. It presents two distinct clinical conditions: one severe, called “major” thalassemia, and the other mild, denominated “minor” thassalemia. Hematologic exam diagnoses the two forms of the disease. Its clinical and radiographic manifestations include hepatosplenomegalia, lymphadenopathy, augmented mandible, increase in medullary spaces, thick bone trabeculae and in lower quantity, resembling a “spider web”, displacement of the mandibular canal, with loss of detail of its superior and inferior corticals and a radiographic aspect of “hair standing on end” at the surface of the cranium. Some of these manifestations are so characteristic and capable of being observed in radiographs that they form part of the dentist’s routine. This case report discusses the alterations observed in the panoramic radiograph of a patient with thalassemia diagnosed by means of hematologic exam.

  14. Intracranial Hypertension in Children: Etiologies, Clinical Features, and Outcome.

    Science.gov (United States)

    Masri, Amira; Jaafar, Amani; Noman, Rasha; Gharaibeh, Almutez; Ababneh, Osama H

    2015-10-01

    This retrospective study aimed to describe the clinical presentations, possible causes, and outcomes of children with idiopathic intracranial hypertension who presented to the authors' clinic. The mean age at onset of symptoms in the authors' cohort of 19 children was 6 years (range: 7 months to 12 years). Most patients (90%) were under 11 years old and (84.2%) symptomatic. The probable cause was identified in 7/19 (37.0%) patients. The most common cause was vitamin D deficiency (26.3%). Other associated probably coincidental comorbidities included sinusitis (5/19, 26.3%), hypophosphatasia (1/19), Pyle disease (1/19), and measles vaccine (1/19). Apart from 2 patients who required lumboperitoneal shunt, the cerebrospinal fluid pressure returned to normal in all patients within a period of 6 weeks to 1 year (average, 5 months). Of those who followed up with the authors' ophthalmologist, 30.7% developed optic atrophy or pallor; 75% of these patients had previous ocular comorbidities. © The Author(s) 2015.

  15. Clinical and genetic features of Huntington disease in Sri Lanka.

    Science.gov (United States)

    Sumathipala, Dulika S; Jayasekara, Rohan W; Dissanayake, Vajira H W

    2013-12-05

    Huntington disease was one of the first neurological hereditary diseases for which genetic testing was made possible as early as 1993. The study describes the clinical and genetic characteristics of patients with Huntington disease in Sri Lanka. Data of 35 consecutive patients tested from 2007 to 2012 at the Human Genetics Unit, Faculty of Medicine, University of Colombo was analyzed retrospectively. Clinical data and genetic diagnostic results were reviewed. Statistical analysis was performed using descriptive statistics. Thirty patients had fully penetrant (FP) CAG repeat mutations and 5 had reduced penetrant (RP) CAG repeat mutations. In the FP group mean ages of onset and diagnosis were 37.5 and 40.4 years, while in the RP group it was 63.0 and 64.8 years respectively. The age of diagnosis ranged from 15 to 72 years, with 2 patients with Juvenile onset (60 years) Huntington disease. The symptoms at diagnosis were predominantly motor (32/35 -91%). Three patients had psychiatric and behavioral disorders. The age difference between onset and genetic diagnosis showed significant delay in females compared to males (p Huntington disease in the Sri Lankan study population were similar to that previously reported in literature.

  16. Nontyphoid Salmonella Infection: Microbiology, Clinical Features, and Antimicrobial Therapy

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    Hung-Ming Chen

    2013-06-01

    Full Text Available Nontyphoid Salmonella is the most common bacterial pathogen causing gastrointestinal infection worldwide. Most nontyphoid Salmonella infection is limited to uncomplicated gastroenteritis that seldom requires antimicrobial treatment. Nevertheless, invasive infections, such as bacteremia, osteomyelitis, and meningitis, may occur and require antimicrobial therapy. Continuous genetic and genomic evolution in Salmonella leading to increased virulence and resistance to multiple drugs are of significant public health concern. Two major changes in the epidemiology of nontyphoid salmonellosis in Europe and in the USA occurred in the second half of the 20th century: the emergence of foodborne human infections caused by Salmonella enterica serotype Enteriditis and by multidrug-resistant strains of Salmonella enterica serotype Typhimurium. In the 21st century, a worsening situation is the increasing resistance to fluoroquinolones and third-generation cephalosporins in nontyphoid Salmonella. Clinical isolates showing carbapenem resistance also have been identified. Although antimicrobial therapy is usually not indicated for uncomplicated Salmonella gastroenteritis, recent studies indicated that a short-course ceftriaxone therapy (3–5 days for patients with severe gastroenteritis would lead to a faster clinical recovery. Continuous surveillance of Salmonella in both humans and animals is mandatory. A better understanding of the mechanisms that lead to the emergence of antimicrobial resistance in Salmonella may help in the devising of better interventional strategies to reduce the spread of resistant Salmonella between humans and reservoirs along the food chain.

  17. Stress fractures: pathophysiology, clinical presentation, imaging features, and treatment options.

    Science.gov (United States)

    Matcuk, George R; Mahanty, Scott R; Skalski, Matthew R; Patel, Dakshesh B; White, Eric A; Gottsegen, Christopher J

    2016-08-01

    Stress fracture, in its most inclusive description, includes both fatigue and insufficiency fracture. Fatigue fractures, sometimes equated with the term "stress fractures," are most common in runners and other athletes and typically occur in the lower extremities. These fractures are the result of abnormal, cyclical loading on normal bone leading to local cortical resorption and fracture. Insufficiency fractures are common in elderly populations, secondary to osteoporosis, and are typically located in and around the pelvis. They are a result of normal or traumatic loading on abnormal bone. Subchondral insufficiency fractures of the hip or knee may cause acute pain that may present in the emergency setting. Medial tibial stress syndrome is a type of stress injury of the tibia related to activity and is a clinical syndrome encompassing a range of injuries from stress edema to frank-displaced fracture. Atypical subtrochanteric femoral fracture associated with long-term bisphosphonate therapy is also a recently discovered entity that needs early recognition to prevent progression to a complete fracture. Imaging recommendations for evaluation of stress fractures include initial plain radiographs followed, if necessary, by magnetic resonance imaging (MRI), which is preferred over computed tomography (CT) and bone scintigraphy. Radiographs are the first-line modality and may reveal linear sclerosis and periosteal reaction prior to the development of a frank fracture. MRI is highly sensitive with findings ranging from periosteal edema to bone marrow and intracortical signal abnormality. Additionally, a brief description of relevant clinical management of stress fractures is included.

  18. Cystic synovial sarcomas: imaging features with clinical and histopathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Nakanishi, Hirofumi; Araki, Nobuhito [Department of Orthopedic Surgery, Osaka Medical Center for Cancer and Cardiovascular Diseases, 1-3-3, Nakamichi, Higashinari-Ku, 537-8511, Osaka (Japan); Sawai, Yuka [Department of Radiology, Osaka Medical Center for Cancer and Cardiovascular Diseases, Osaka (Japan); Kudawara, Ikuo [Department of Orthopedic Surgery, Osaka National Hospital, Osaka (Japan); Mano, Masayuki; Ishiguro, Shingo [Department of Pathology, Osaka Medical Center for Cancer and Cardiovascular Diseases, Osaka (Japan); Ueda, Takafumi; Yoshikawa, Hideki [Department of Orthopedic Surgery, Osaka University Graduate School of Medicine, Suita, Osaka (Japan)

    2003-12-01

    To characterize the radiological and clinicopathologic features of cystic synovial sarcoma. Seven patients with primary cystic synovial sarcoma were evaluated. Computed tomography (CT) and magnetic resonance (MR) imaging were undertaken at the first presentation. The diagnosis of synovial sarcoma was made on the basis of histological examinations followed by molecular analysis. Radiological and clinicopathologic findings were reviewed. CT showed well-defined soft tissue mass without cortical bone erosion and invasion. Calcification was seen at the periphery of the mass in three cases. T2-weighted MR images showed multilocular inhomogeneous intensity mass in all cases, five of which showed fluid-fluid levels. On gross appearance, old and/or fresh hematomas were detected in six cases. In the one remaining case, microscopic hemorrhage in the cystic lumen was proven. Four cases had poorly differentiated areas. In five cases prominent hemangiopericytomatous vasculature was observed. Histologic grade was intermediate in one tumor and high in six. One case had a history of misdiagnosis for tarsal tunnel syndrome, one for lymphadenopathy, two for sciatica and two for hematoma. All cystic synovial sarcomas demonstrated multilocularity with well-circumscribed walls and internal septae. Synovial sarcoma should be taken into consideration in patients with deeply situated multicystic mass with triple signal intensity on T2-weighted MR imaging. (orig.)

  19. Clinical features and outcome of epinephrine-induced takotsubo syndrome: Analysis of 33 published cases

    Energy Technology Data Exchange (ETDEWEB)

    Y-Hassan, Shams, E-mail: shams.younis-hassan@karolinska.se

    2016-10-15

    Background: Takotsubo syndrome (TS) may be triggered by innumerable physical stress factors including epinephrine administration. The aim of this study is to report on the clinical features and outcome of epinephrine-induced TS (Epi-TS) in a large cohort of published cases. Methods: A computer assisted search of the electronic data base Pubmed was performed from 1990 to 2014. All cases deemed to have Epi-TS were retrieved and compared to the large recent report by Templin et al. (All-TS). Results: Thirty-three cases of Epi-TS were retrieved from the literature and compared to 1750 cases of All-TS. Chest pain as a presenting symptom occurred in 45% of cases. The Epi-TS patients were on average 20.6 years younger than All-TS patients (p < 0.0001). The women were still predominating in Epi-TS but in a significantly lower percentage compared to ALL-TS (73% in Epi-TS vs 89.8% in All-TS, p = 0.0054). One third of the Epi-TS cases had basal pattern of TS compared to 2.2% of cases reported in All-TS. Epi-TS cases were characterized by high complication rates, which occurred in 57.6%. The most important risk factor for the development of TS complication was the accidental administration (P < 0.001) and the dose of >1 mg epinephrine (p = 0.02). In spite of high complication rates, the recovery was rapid with no in-hospital mortality. Conclusion: Epi-TS is characterized by a dramatic rapid onset of symptoms after epinephrine administration. Almost half of the cases had apical sparing and one third basal pattern of TS. In spite of high complication rates, the prognosis was good with no in-hospital mortality. - Highlights: • Published cases of Epinephrine-induced Takotsubo Syndrome (Epi-TS) are reviewed. • Epi-TS is characterized by a dramatic clinical presentation and high complication rates. • In spite of high complication rates, the prognosis of Epi-TS is good. • Almost half of the cases of Epi-TS had apical sparing pattern of TS. • The implications of the findings

  20. Clinical and demographic features of patients with dementia attended in a tertiary outpatient clinic

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    Vale Francisco A.C.

    2002-01-01

    Full Text Available We describe clinical and socio-demographic features of patients with dementia attended in a tertiary outpatient clinic during a three years period (56.9% of the total attendance. Most of them were men, white, from the local community, urban district. Nobody had a job at the moment, two thirds of them got social welfare benefit. They lived with their family, the caregiver being the spouse or a daughter. The education level was very low, a quarter of them being illiterate. They were referred mostly from the public health care service, by neurologists or psychiatrists due to cognitive disorders. Family history as well as individual history of previous neurological/psychiatric disorders were frequent, especially alcoholism, stroke, head trauma and dementia. The neurological exam showed abnormalities in two thirds of cases, chiefly extra-pyramidal and pyramidal signs. Alzheimer's disease was the most frequent cause, followed by cerebrovascular disorder; alcoholism and normal pressure hydrocephalus were also frequent causes. Most patients presented concomitant non-etiological neurological/psychiatric disorders, mainly alcoholism and depression, and non-neurological/psychiatric diseases, predominantly hypertension, cardiopathy and diabetes. Most patients had been referred under medication, frequently politherapy, including psychotropics.

  1. Review of clinical and laboratory features of human Brucellosis

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    Mantur B

    2007-01-01

    Full Text Available Infection with Brucella spp. continues to pose a human health risk globally despite strides in eradicating the disease from domestic animals. Brucellosis has been an emerging disease since the discovery of Brucella melitensis by Sir David Bruce in 1887. Although many countries have eradicated B. abortus from cattle, in some areas B. melitensis and B. suis have emerged as causes of this infection in cattle, leading to human infections. Currently B. melitensis remains the principal cause of human brucellosis worldwide including India. The recent isolation of distinct strains of Brucella from marine mammals as well as humans is an indicator of an emerging zoonotic disease. Brucellosis in endemic and non-endemic regions remains a diagnostic puzzle due to misleading non-specific manifestations and increasing unusual presentations. Fewer than 10% of human cases of brucellosis may be clinically recognized and treated or reported. Routine serological surveillance is not practiced even in Brucella - endemic countries and we suggest that this should be a part of laboratory testing coupled with a high index of clinical suspicion to improve the level of case detection. The screening of family members of index cases of acute brucellosis in an endemic area should be undertaken to pick up additional unrecognised cases. Rapid and reliable, sensitive and specific, easy to perform and automated detection systems for Brucella spp. are urgently needed to allow early diagnosis and adequate antibiotic therapy in time to decrease morbidity / mortality. The history of travel to endemic countries along with exposure to animals and exotic foods are usually critical to making the clinical diagnosis. Laboratory testing is indispensable for diagnosis. Therefore alertness of clinician and close collaboration with microbiologist are essential even in endemic areas to correctly diagnose and treat this protean human infection. Existing treatment options, largely based on

  2. Analysis on early clinical features of behavioral variant frontotemporal dementia

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    Guan-jun LI

    2017-11-01

    Full Text Available Background Although the early behavioral symptoms of behavioral variant frontotemporal dementia (bvFTD are prominent, early diagnosis for bvFTD is difficult due to confusion with other mental disorders, and lack of sensitivity and specificity of diagnostic criteria, etc. In this paper, we summarized the important reviews in recent years and analyzed the clinical characteristics of bvFTD patients to improve the detection of early symptoms in bvFTD. Methods Twenty-three possible or probable bvFTD patients were diagnosed according to International Behavioral Variant Frontotemporal Dementia Criteria Consortium (FTDC. Self-designed questionnaires designed by Shanghai Mental Health Center were used to collect sociodemographic data and general information of patients. Their clinical characteristics were summarized, including abnormal behaviors, cognitive impairment, psychotic symptoms and other symptoms. Mini-Mental State Examination (MMSE, Activities of Daily Living (ADL and Clinical Dementia Rating Scale (CDR were used to make neuropsychological tests and compare with similar overseas studies (control group, N = 66. Results Eleven male patients and 12 female patients were included in our study. Compared with control group, the average age of onset [(50.83 ± 11.55 years vs. (57.00 ± 10.00 years; t = 3.863, P = 0.000] and average age of diagnosis [(53.22 ± 11.55 years vs. (61.00 ± 9.00 years; t = 13.423, P = 0.000] of bvFTD patients were smaller. The study showed that bvFTD patients had more apathy or indolence [95.65% (22/23 vs. 65.15% (43/66; χ2 = 8.057, P = 0.005], loss of sympathy or empathy [95.65% (22/23 vs. 33.33% (22/66; χ2 = 26.499, P = 0.000], while patients in control group showed more derepression behavior [98.48% (65/66 vs. 52.17% (12/23; χ2 = 27.514, P = 0.000] and continuous, stiff, obsessive and/or ritualized behavior [95.45% (63/66 vs. 30.43% (7/23; adjusted χ2 = 39.159, P = 0.000]. For cognitive impairment, bvFTD patients

  3. Differences in clinical features of two immigrant populations with tuberculosis.

    Science.gov (United States)

    Supervía, August; Pallàs, Oriol; Piccari, Lucilla; Herrera Fernández, Sabina; Domínguez Álvarez, Marisol; Cirera, Isabel; del Baño, Francisco

    2015-06-01

    A study was performed to assess differences in the clinical presentation of tuberculosis between two groups of immigrants. Ninety-four patients seen in the emergency room for newly diagnosed tuberculosis between 2006 and 2012 were included. Forty-nine patients were from Asian countries and 45 from Latin America. Mean age [years (SD)] was 35.3 (13) in Asian patients and 33.9 (10) in Latin American patients. Asian subjects were predominantly male (40/49 vs 25/45; P=0.006). Patients from Latin American countries had a higher rate of pulmonary tuberculosis. A higher percentage of Asian patients lived in overcrowded conditions, whereas HIV infection was more frequent among Latin Americans. Most patients were treated with a quadruple regimen. Resistance to isoniazid was documented in two patients from Latin America. Copyright © 2014 SEPAR. Published by Elsevier Espana. All rights reserved.

  4. Radiological and clinical features of the single ventricle

    Energy Technology Data Exchange (ETDEWEB)

    Maisch, B.; Kulke, H.; Marcin, S.; Deeg, P.; Braun, H.; Kochsiek, K.

    1983-03-01

    The case a twenty year old patient is reported, whose chest X-ray demonstrated cardiomegaly with a prominent pulmonary segment. The echocardiographical examination indicated a single ventricle with septal rudiments; heart catherization confirmed the diagnosis of a single ventricle of the right ventricular type with a well-sized left ventricular outlet chamber and the banding of the pulmonary artery. In addition the case of a 17 year old patient is reported, whose chest X-ray demonstrated dextrocardia. Clinical manifestations (cyanosis, elevated hemoglobin, clubbing, 3rd heart sound) as well as one- and two-dimensional echocardiography with echocontrast media confirmed the diagnosis of corrected transposition of the great arteries, pulmonary stenosis and incompetence, single ventricle and dextrocardia, a diagnosis made already 12 years ago by heart catherization.

  5. Moebius syndrome: clinical features, diagnosis, management and early intervention.

    Science.gov (United States)

    Picciolini, Odoardo; Porro, Matteo; Cattaneo, Elisa; Castelletti, Silvia; Masera, Giuseppe; Mosca, Fabio; Bedeschi, Maria Francesca

    2016-06-03

    Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS. The study included 50 children, 21 males and 29 females, aged 1 month to 14 years. The patients entered into a multidisciplinary diagnostic and follow-up protocol that had the specific purpose of detecting clinical and developmental deficits related to MBS. Involvement of the VII cranial nerve (total/partial, bilateral or unilateral) was present in 96 % of patients, and of the VI nerve in 85 %. Two patients were without impairment of the VII nerve and seven patients had no involvement of the VI nerve and were thus classified as Moebius-like because of the involvement of other CNs. Additional affected CNs were numbers III-IV in 16 %, V in 11 %, VIII and X each in 8 %, the XI in 6 %, the IX, most often partially, in 22 %, and the XII in 48 % of cases. Their development was characterized by global delay at one year of age, motor, emotional and speech difficulties at two years of age, a trend toward normalization at three years of age but with weakness in hand-eye coordination, and achieving average results at five years of age. Overall 90 % of children had a normal developmental quotient whereas only 10 % manifested cognitive deficits. Early rehabilitation may enhance the recovery of normal function, particularly in vulnerable areas of development. It is possible that early intervention that integrates sensory and visual information with emotional difficulties can improve the prognosis of the child with MBS.

  6. [Contact lens related corneal ulcers: clinical, microbiological and therapeutic features].

    Science.gov (United States)

    Benhmidoune, L; Bensemlali, A; Bouazza, M; Karami, R; El Mansouri, H; El Belhadji, M; Rachid, R; Chakib, A; Amraoui, A

    2013-09-01

    Corneal ulcers in contact lens wearers are becoming more common, and can sometimes lead to severe complications. The purpose of this study is to define the epidemiological, clinical, microbiological and therapeutic considerations of these ulcers within the above context. We conducted an uncontrolled, descriptive, retrospective study of 51 patients presenting with contact lens related corneal ulcers to the ophthalmology department of the August 20, 1953 Hospital in Casablanca between January 2009 and January 2012. The average age of our patients was 22 years, with a gender ratio of 7.5 female to male. General risk factors (diabetes and tuberculosis) were found in 17.5% of cases. The average length of hospital stay was 15 days. Of our patients, 58.8% wore cosmetic contact lenses and 41.18% wore therapeutic contact lenses. Mean duration prior to consultation was 5 days. The predominant clinical signs were eye pain and redness, with a decrease in visual acuity worse than 1/10 in 82.3% of patients. In 70.6% of cases, the ulcer was central. The average size was 4.3mm. An anterior chamber reaction was found in 47.1%. Corneal bacterial cultures were positive in 47.8%. Pathogens found were Staphylococcus aureus, Pseudomonas aeruginosa and Acanthamœba. Contact lens and solution cultures were positive in 73.6% of cases. Outcomes were favorable with local and systemic antibiotic treatment adapted to microbiological results in only 41.2% of cases. In the remaining patients, significant secondary opacities persisted. Cosmetic and therapeutic contact lens wear is a major cause of corneal ulcer. Delayed consultation results in severe sequelae with persistently decreased visual acuity. The ophthalmologist plays an important role in preventing complications of contact lens wear, through better hygiene instruction and follow-up of his or her patients. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  7. Clinical features of bipolar spectrum with binge eating behaviour.

    Science.gov (United States)

    McElroy, Susan L; Crow, Scott; Blom, Thomas J; Cuellar-Barboza, Alfredo B; Prieto, Miguel L; Veldic, Marin; Winham, Stacey J; Bobo, William V; Geske, Jennifer; Seymour, Lisa R; Mori, Nicole; Bond, David J; Biernacka, Joanna M; Frye, Mark A

    2016-09-01

    To determine whether bipolar spectrum disorder with binge eating behavior (BE) is an important clinical sub-phenotype. Prevalence rates and correlates of different levels of BE were assessed in 1114 bipolar spectrum patients participating in a genetic biobank. BE and eating disorders (EDs) were assessed with the Eating Disorder Diagnostic Scale (EDDS). Psychiatric illness burden was evaluated with measures of suicidality, psychosis, mood instability, anxiety disorder comorbidity, and substance abuse comorbidity. Medical illness burden was evaluated with body mass index (BMI) and the Cumulative Index Rating Scale (CIRS). Thirty percent of patients had any BE and 27% had BE plus an ED diagnosis. Compared with bipolar spectrum patients without BE, bipolar spectrum patients with BE were younger and more likely to be female; had significantly higher levels of eating psychopathology, suicidality, mood instability, and anxiety disorder comorbidity; had a significantly higher mean BMI and a significantly higher rate of obesity; and had a significantly higher medical illness burden. Bipolar spectrum patients with BE but no ED diagnosis were more similar to bipolar spectrum patients without BE than to those with an ED. Nonetheless, the positive predictive value and specificity of BE predicting an ED was 0.90 and 0.96, respectively. As only two patients had co-occurring anorexia nervosa, these results may not generalize to bipolar spectrum patients with restricting EDs. Bipolar spectrum disorder with broadly-defined BE may not be as clinically relevant a sub-phenotype as bipolar spectrum disorder with an ED but may be an adequate proxy for the latter when phenotyping large samples of individuals. Copyright © 2016. Published by Elsevier B.V.

  8. CLINICAL FEATURES OF CHILDREN WITH DIPHTHERIA ON SOETOMO HOSPITAL

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    Dwiyanti Puspitasari

    2017-04-01

    Full Text Available Introduction: Diphtheria is an important disease in children that could lead to fatal disease. East Java Province was declared to have Diphtheria outbreak in 2011 with increasing morbidity and mortality, including on Soetomo Hospital. Our paper aimed to describe the profi le of diphtheria cases in children admitted at dr Sutomo Hospital. Method: This descriptive study reviewed all medical records of diphtheritic patients admitted to Dr. Soetomo Hospital, January 2004–December 2010, of concerns were clinical presentations, age, sex, immunizations status, complications, and outcomes. Result: From 148 diphtheria cases, 22.3% were bacteriologically proven; 53.4% were male with sex ratio 1.1:1. The age proportion of ≤ 5 years old, 5- ≤ 10 years old, and > 10 years old were 61.5%, 31.8%, and 6.7%. Fever occurred in 99% cases, sore throat, stridor and bullneck occurred respectively in 62.2%, 39.9%, and 29.7% cases. There were 56.8% severe and 41.9% moderate diphtheria. Subjects were immunized in 84%, but none of them have adequate immunization. Myocarditis, being one of the commonest complications occurred in 11.4% cases and tracheostomy was the second (4.0%. All of the death cases (7.9% were unvaccinated and in severe form. Discussion: The mostly prevalent clinical manifestations in diphtheria children were fever and sore throat. Half of the cases came with severe diphtheria and most cases were inadequately vaccinated. Death occurred in the unvaccinated and severe form.

  9. Primary Sjögren's syndrome: oral aspects on pathogenesis, diagnostic criteria, clinical features and approaches for therapy

    DEFF Research Database (Denmark)

    Pedersen, A.M.; Nauntofte, Birgitte

    2001-01-01

    diagnostic criteria, labial salivary gland histopathology, primary Sjögren's syndrome, salivary gland function, therapy, xerostomia......diagnostic criteria, labial salivary gland histopathology, primary Sjögren's syndrome, salivary gland function, therapy, xerostomia...

  10. Clinical Features of 294 Turkish Patients with Chronic Myeloproliferative Neoplasms

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    Neslihan Andıç

    2016-08-01

    Full Text Available Objective: Myeloproliferative neoplasms (MPNs share common clonal stem cells but show significant differences in their clinical courses. The aim of this retrospective study was to evaluate thrombotic and hemorrhagic complications, JAK2 status, gastrointestinal and cardiac changes, treatment modalities, and survival in MPNs in Turkish patients. Materials and Methods: Medical files of 294 patients [112 essential thrombocythemia (ET, 117 polycythemia vera (PV, 46 primary myelofibrosis, and 19 unclassified MPN cases] from 2 different universities in Turkey were examined. Results: Older age, higher leukocyte count at diagnosis, and JAK2 mutation positivity were risk factors for thrombosis. Platelet count over 1000x109/L was a risk factor for hemorrhagic episodes. Hydroxyurea treatment was not related to leukemic transformation. Median follow-up time was 50 months (quartiles: 22.2-81.75 in these patients. Patients with primary myelofibrosis had the shortest survival of 137 months when compared with 179 months for ET and 231 months for PV. Leukemic transformation, thromboembolic events, age over 60 years, and anemia were found to be the factors affecting survival. Conclusion: Thromboembolic complications are the most important preventable risk factors for morbidity and mortality in MPNs. Drug management in MPNs is done according to hemoglobin and platelet counts. Based on the current study population our results support the idea that leukocytosis and JAK2 positivity are more important risk factors for thrombosis than hemoglobin and platelet values.

  11. Rasmussen’s encephalitis: clinical features, pathobiology, and treatment advances

    Science.gov (United States)

    Varadkar, Sophia; Bien, Christian G; Kruse, Carol A; Jensen, Frances E; Bauer, Jan; Pardo, Carlos A; Vincent, Angela; Mathern, Gary W; Cross, J Helen

    2014-01-01

    Rasmussen’s encephalitis is a rare chronic neurological disorder, characterised by unilateral inflammation of the cerebral cortex, drug-resistant epilepsy, and progressive neurological and cognitive deterioration. Neuropathological and immunological studies support the notion that Rasmussen’s encephalitis is probably driven by a T-cell response to one or more antigenic epitopes, with potential additional contribution by autoantibodies. Careful analysis of the association between histopathology and clinical presentation suggests that initial damage to the brain is mediated by T cells and microglia, suggesting a window for treatment if Rasmussen’s encephalitis can be diagnosed early. Advances in neuroimaging suggest that progression of the inflammatory process seen with MRI might be a good biomarker in Rasmussen’s encephalitis. For many patients, families, and doctors, choosing the right time to move from medical management to surgery is a real therapeutic dilemma. Cerebral hemispherectomy remains the only cure for seizures, but there are inevitable functional compromises. Decisions of whether or when surgery should be undertaken are challenging in the absence of a dense neurological deficit, and vary by institutional experience. Further, the optimum time for surgery, to give the best language and cognitive outcome, is not yet well understood. Immunomodulatory treatments seem to slow rather than halt disease progression in Rasmussen’s encephalitis, without changing the eventual outcome. PMID:24457189

  12. Clinical Features and Causes of Endogenous Hyperinsulinemic Hypoglycemia in Korea

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    Chang-Yun Woo

    2015-04-01

    Full Text Available BackgroundEndogenous hyperinsulinemic hypoglycemia (EHH is characterized by an inappropriately high plasma insulin level, despite a low plasma glucose level. Most of the EHH cases are caused by insulinoma, whereas nesidioblastosis and insulin autoimmune syndrome (IAS are relatively rare.MethodsTo evaluate the relative frequencies of various causes of EHH in Korea, we retrospectively analyzed 84 patients who were diagnosed with EHH from 1998 to 2012 in a university hospital.ResultsAmong the 84 EHH patients, 74 patients (88%, five (6%, and five (6% were diagnosed with insulinoma, nesidioblastosis or IAS, respectively. The most common clinical manifestation of EHH was neuroglycopenic symptoms. Symptom duration before diagnosis was 14.5 months (range, 1 to 120 months for insulinoma, 1.0 months (range, 6 days to 7 months for nesidioblastosis, and 2.0 months (range, 1 to 12 months for IAS. One patient, who was diagnosed with nesidioblastosis in 2006, underwent distal pancreatectomy but was later determined to be positive for insulin autoantibodies. Except for one patient who was diagnosed in 2007, the remaining three patients with nesidioblastosis demonstrated severe hyperinsulinemia (157 to 2,719 µIU/mL, which suggests that these patients might have had IAS, rather than nesidioblastosis.ConclusionThe results of this study suggest that the prevalence of IAS may be higher in Korea than previously thought. Therefore, measurement of insulin autoantibody levels is warranted for EHH patients, especially in patients with very high plasma insulin levels.

  13. The clinical and immunologic features of pulmonary fibrosis in sarcoidosis

    Science.gov (United States)

    PATTERSON, KAREN C.; HOGARTH, KYLE; HUSAIN, ALIYA N.; SPERLING, ANNE I.; NIEWOLD, TIMOTHY B.

    2014-01-01

    Sarcoidosis is a multisystem, granulomatous disease that most often affects the lungs. The clinical course is highly variable; many patients undergo spontaneous remission, but up to a third of patients progresses to a chronic disease course. The development of pulmonary fibrosis (PF) in a subset of patients with chronic disease has a negative impact on morbidity and mortality. While sarcoidosis-associated PF can be progressive, it is often referred to as “burnt out” disease, a designation reflecting inactive granulomatous inflammation. The immune mechanisms of sarcoidosis-associated PF are not well understood. It is not clear if fibrotic processes are active from the onset of sarcoidosis in predisposed individuals, or whether a profibrotic state develops as a response to ongoing inflammation. Transforming growth factor β (TGF-β) is an important profibrotic cytokine, and in sarcoidosis, distinct genotypes of TGF-β have been identified in those with PF. The overall cytokine profile in sarcoidosis-associated PF has not been well characterized, although a transition from a T helper 1 to a T helper 2 signature has been proposed. Macrophages have important regulatory interactions with fibroblasts, and the role of alveolar macrophages in sarcoidosis-associated PF is a compelling target for further study. Elucidating the natural history of sarcoidosis-associated PF will inform our understanding of the fundamental derangements, and will enhance prognostication and the development of therapeutic strategies. PMID:22683422

  14. Clinical and Endoscopic Features of Metastatic Tumors in the Stomach

    Science.gov (United States)

    Kim, Ga Hee; Ahn, Ji Yong; Jung, Hwoon-Yong; Park, Young Soo; Kim, Min-Ju; Choi, Kee Don; Lee, Jeong Hoon; Choi, Kwi-Sook; Kim, Do Hoon; Lim, Hyun; Song, Ho June; Lee, Gin Hyug; Kim, Jin-Ho

    2015-01-01

    Background/Aims Metastasis to the stomach is rare. The aim of this study was to describe and analyze the clinical outcomes of cancers that metastasized to the stomach. Methods We reviewed the clinicopathological aspects of patients with gastric metastases from solid organ tumors. Thirty-seven cases were identified, and we evaluated the histology, initial presentation, imaging findings, lesion locations, treatment courses, and overall patient survival. Results Endoscopic findings indicated that solitary lesions presented more frequently than multiple lesions and submucosal tumor-like tumors were the most common appearance. Malignant melanoma was the tumor that most frequently metastasized to the stomach. Twelve patients received treatments after the diagnosis of gastric metastasis. The median survival period from the diagnosis of gastric metastasis was 3.0 months (interquartile range, 1.0 to 11.0 months). Patients with solitary lesions and patients who received any treatments survived longer after the diagnosis of metastatic cancer than patients with multiple lesions and patients who did not any receive any treatments. Conclusions Proper treatment with careful consideration of the primary tumor characteristics can increase the survival period in patients with tumors that metastasize to the stomach, especially in cases with solitary metastatic lesions in endoscopic findings. PMID:25473071

  15. Folliculotropic mycosis fungoides: clinical and histologic features in five patients

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    Amir Hooshang Ehsani

    2016-01-01

    Full Text Available Background: Alopecia can be a manifestation of mycosis fungoides (MF; however, the prevalence is unknown. Aims: We sought to describe the clinicopathologic presentation of alopecia in patients with diagnosis of MF. Methods: A retrospective analysis of patients with biopsy-proven MF, who were evaluated at our cancer center from 2002 to 2012, was performed to identify patients with alopecia. Results: Five patients with alopecia were identified from reviewing of 157 patients with MF. The male:female ratio was 3:2, and the mean age of patients was 42.8 years. Two of these patients showed patchy hair loss on scalp which was clinically identical to alopecia areata. In remaining three patients, hair loss was seen in areas of MF lesions, and epidermal changes consisted of patch- and plaque-type lesions of MF, tumors, and follicular lesions (follicular MF were also present. In two of these patients, lymphadenopathy without any visceral involvement was detected. Conclusions: Alopecia was observed in 5 (3.18% patients with MF, which makes it a rare finding, which included alopecia areata-like patchy loss in 2 and alopecia within MF lesions in 3.

  16. Ocular toxoplasmosis II: clinical features, pathology and management

    Science.gov (United States)

    Butler, Nicholas J; Furtado, João M; Winthrop, Kevin L; Smith, Justine R

    2014-01-01

    The term, ocular toxoplasmosis, refers to eye disease related to infection with the parasite, Toxoplasma gondii. Recurrent posterior uveitis is the typical form of this disease, characterized by unilateral, necrotizing retinitis with secondary choroiditis, occurring adjacent to a pigmented retinochoroidal scar and associated with retinal vasculitis and vitritis. Multiple atypical presentations are also described, and severe inflammation is observed in immunocompromised patients. Histopathological correlations demonstrate focal coagulative retinal necrosis, and early in the course of the disease, this inflammation is based in the inner retina. For typical ocular toxoplasmosis, a diagnosis is easily made on clinical examination. In atypical cases, ocular fluid testing to detect parasite DNA by polymerase chain reaction or to determine intraocular production of specific antibody may be extremely helpful for establishing aetiology. Given the high seroprevalence of toxoplasmosis in most communities, serological testing for T. gondii antibodies is generally not useful. Despite a lack of published evidence for effectiveness of current therapies, most ophthalmologists elect to treat patients with ocular toxoplasmosis that reduces or threatens to impact vision. Classic therapy consists of oral pyrimethamine and sulfadiazine, plus systemic corticosteroid. Substantial toxicity of this drug combination has spurred interest in alternative antimicrobials, as well as local forms of drug delivery. At this time, however, no therapeutic approach is curative of ocular toxoplasmosis. PMID:22712598

  17. Clinical and biochemical features of some intravenous iron complexes

    Directory of Open Access Journals (Sweden)

    S. Yu. Abashin

    2014-07-01

    Full Text Available Most anemia cases associated with iron deficiency. There are various therapeutic approaches to compensate iron deficiency. In some cases,a rapid restore of body iron is required, which is only possible with intravenous administration. Now a number of intravenous iron preparations are available, and each of them has not only advantages. Considering the drugs side effects, there was a need for drugs with high efficiency, low immunogenicity, and minimal toxicity. One of the decisions was to create preparations based on maltose and isomaltose. Such new intravenous iron preparations are ferric carboxymaltose and iron isomaltoside. Currently, there are no available clinical data that isomaltose and maltose preparations differ significantly with respect to adverse reactions associated with their immunogenicity. Based on study results isomaltose preparations in patients with dextran sensibilization should be used with caution. This is not completely exclude the possibility that both of these drugs can be an immune response trigger with a different specificity than the one on dextran develops. Preparations based on maltose, sucrose and gluconate were neutral in immunoprecipitation assay with dextran-reactive antibodies that determines their preference for patients with dextran sensibilisation. Other important properties of ferric carboxymaltose are: convenience of application and lack of oxidative stress that are determined by the slow iron release.

  18. Clinical and radiological features of nonfamilial cherubism: A case report

    Science.gov (United States)

    Wagel, Justyna; Łuczak, Klaudiusz; Hendrich, Barbara; Guziński, Maciej; Sąsiadek, Marek

    2012-01-01

    Summary Background: Cherubism is an uncommon hereditary benign fibro-osseous disorder characterized by bilateral enlargement of the mandible and the maxilla that presents with varying degrees of involvement and a tendency toward spontaneous remission. On radiography cherubic lesions appear as cystic multilocular radiolucencies limited to the jaw bones. Case Report: A 5-year-old boy was referred to the Department of Maxillo-Facial Surgery due to deformation of the lower and middle section of the face and displacement or absence of teeth. A panoramic radiograph and a computed tomography revealed extensive multilocular, bilateral radiolucent areas and marked bony expansion in the mandible and maxilla, with sparing of the mandibular condyles. Histopathological evaluation of an incisional biopsy of the left maxilla and genotypic characterization confirmed the diagnosis of cherubism. Conclusions: The radiologic characteristics of cherubism are not pathognomonic but the diagnosis is strongly suggested by bilateral relatively symmetric jaw involvement that is limited to the jaw bones and, together with clinical and histopathologic findings, enables the diagnosis of cherubism. Genotypic characterization confirms the diagnosis. PMID:23049582

  19. Actinomycosis: etiology, clinical features, diagnosis, treatment, and management

    Science.gov (United States)

    Valour, Florent; Sénéchal, Agathe; Dupieux, Céline; Karsenty, Judith; Lustig, Sébastien; Breton, Pierre; Gleizal, Arnaud; Boussel, Loïc; Laurent, Frédéric; Braun, Evelyne; Chidiac, Christian; Ader, Florence; Ferry, Tristan

    2014-01-01

    Actinomycosis is a rare chronic disease caused by Actinomyces spp., anaerobic Gram-positive bacteria that normally colonize the human mouth and digestive and genital tracts. Physicians must be aware of typical clinical presentations (such as cervicofacial actinomycosis following dental focus of infection, pelvic actinomycosis in women with an intrauterine device, and pulmonary actinomycosis in smokers with poor dental hygiene), but also that actinomycosis may mimic the malignancy process in various anatomical sites. Bacterial cultures and pathology are the cornerstone of diagnosis, but particular conditions are required in order to get the correct diagnosis. Prolonged bacterial cultures in anaerobic conditions are necessary to identify the bacterium and typical microscopic findings include necrosis with yellowish sulfur granules and filamentous Gram-positive fungal-like pathogens. Patients with actinomycosis require prolonged (6- to 12-month) high doses (to facilitate the drug penetration in abscess and in infected tissues) of penicillin G or amoxicillin, but the duration of antimicrobial therapy could probably be shortened to 3 months in patients in whom optimal surgical resection of infected tissues has been performed. Preventive measures, such as reduction of alcohol abuse and improvement of dental hygiene, may limit occurrence of pulmonary, cervicofacial, and central nervous system actinomycosis. In women, intrauterine devices must be changed every 5 years in order to limit the occurrence of pelvic actinomycosis. PMID:25045274

  20. Acute arsenic poisoning: clinical, toxicological, histopathological, and forensic features.

    Science.gov (United States)

    Tournel, Gilles; Houssaye, Cédric; Humbert, Luc; Dhorne, Christine; Gnemmi, Viviane; Bécart-Robert, Anne; Nisse, Patrick; Hédouin, Valéry; Gosset, Didier; Lhermitte, Michel

    2011-01-01

    This report describes a suicide case by acute arsenic intoxication via intravenous injection. A 30-year-old woman injected arsenic As (V) (sodium arseniate disodique: Disodium Hydrogena Arsenik RP) in a successful suicide attempt. Three hours following administration, the woman developed severe digestive symptoms. She was admitted to a hospital and transferred to the intensive care unit within 12 h of the massive administration of arsenic. Despite therapeutic efforts, over the next 2 h she developed multiorgan failure and died. A postmortem examination was performed. Pulmonary edema and congestion of liver were apparent. As (V) and As (III) were determined by high performance liquid chromatography and inductively coupled plasma mass spectrometry after mineralization of samples by concentrated nitric acid. Toxicological analysis revealed high concentrations of arsenic in biological fluids as well as in organs. Histopathological examination showed a typical indication of myocarditis. These findings were in agreement with acute arsenic poisoning. The symptoms developed by this young woman (intoxication by intravenous administration) were comparable to oral intoxication. The clinical signs, survival time, and administration type are discussed in light of the literature on acute and chronic arsenic poisoning. © 2010 American Academy of Forensic Sciences.

  1. Familial epilepsy in Algeria: Clinical features and inheritance profiles.

    Science.gov (United States)

    Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; Chaouch, Malika; Hamamy, Hanan; Antonarakis, Stylianos E

    2015-09-01

    To document the clinical characteristics and inheritance pattern of epilepsy in multigeneration Algerian families. Affected members from extended families with familial epilepsy were assessed at the University Hospital of Oran in Algeria. Available medical records, neurological examination, electroencephalography and imaging data were reviewed. The epilepsy type was classified according to the criteria of the International League Against Epilepsy and modes of inheritance were deduced from pedigree analysis. The study population included 40 probands; 23 male (57.5%) and 17 female subjects (42.5%). The mean age of seizure onset was 9.5 ± 6.1 years. According to seizure onset, 16 patients (40%) had focal seizures and 20 (50%) had generalized seizures. Seizure control was achieved for two patients (5%) for 10 years, while 28 (70%) were seizure-free for 3 months. Eleven patients (27.5%) had prior febrile seizures, 12 were diagnosed with psychiatric disorders and four families had syndromic epilepsy. The consanguinity rate among parents of affected was 50% with phenotypic concordance observed in 25 families (62.5%). Pedigree analysis suggested autosomal dominant (AD) inheritance with or without reduced penetrance in 18 families (45%), probable autosomal recessive (AR) inheritance in 14 families (35%), and an X-linked recessive inheritance in one family. This study reveals large Algerian families with multigenerational inheritance of epilepsy. Molecular testing such as exome sequencing would clarify the genetic basis of epilepsy in some of our families. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  2. Czech mass methanol outbreak 2012: epidemiology, challenges and clinical features.

    Science.gov (United States)

    Zakharov, Sergey; Pelclova, Daniela; Urban, Pavel; Navratil, Tomas; Diblik, Pavel; Kuthan, Pavel; Hubacek, Jaroslav A; Miovsky, Michal; Klempir, Jiri; Vaneckova, Manuela; Seidl, Zdenek; Pilin, Alexander; Fenclova, Zdenka; Petrik, Vit; Kotikova, Katerina; Nurieva, Olga; Ridzon, Petr; Rulisek, Jan; Komarc, Martin; Hovda, Knut Erik

    2014-12-01

    Methanol poisonings occur frequently globally, but reports of larger outbreaks where complete clinical and laboratory data are reported remain scarce. The objective of the present study was to report the data from the mass methanol poisoning in the Czech Republic in 2012 addressing the general epidemiology, treatment, and outcomes, and to present a protocol for the use of fomepizole ensuring that the antidote was provided to the most severely poisoned patients in the critical phase. A combined prospective and retrospective case series study of 121 patients with confirmed methanol poisoning. From a total of 121 intoxicated subjects, 20 died outside the hospital and 101 were hospitalized. Among them, 60 survived without, and 20 with visual/CNS sequelae, whereas 21 patients died. The total and hospital mortality rates were 34% and 21%, respectively. Multivariate regression analysis found pH 0.05). Severity of metabolic acidosis, state of consciousness, and serum ethanol on admission were the only significant parameters associated with mortality. The type of dialysis or antidote did not appear to affect mortality. Recommendations that were issued for hospital triage of fomepizole administration allowed conservation of valuable antidote in this massive poisoning outbreak for those patients most in need.

  3. Role of Nutritional Factors at the Early Life Stages in the Pathogenesis and Clinical Course of Type 1 Diabetes

    Directory of Open Access Journals (Sweden)

    Yukiko Kagohashi

    2015-01-01

    Full Text Available Nutrition has been suggested as an important environmental factor other than viruses and chemicals in the pathogenesis of type 1 diabetes (T1D. Whereas various maternal dietary nutritional elements have been suggested and examined in T1D of both humans and experimental animals, the results largely remain controversial. In a series of studies using T1D model nonobese diabetic (NOD mice, maternal dietary n-6/n-3 essential fatty acid ratio during pregnancy and lactation period, that is, early life stages of the offspring, has been shown to affect pathogenesis of insulitis and strongly prevent overt T1D of the offspring, which is consistent with its preventive effects on other allergic diseases.

  4. Prediction of renal mass aggressiveness using clinical and radiographic features: a global, multicentre prospective study

    NARCIS (Netherlands)

    Golan, Shay; Eggener, Scott; Subotic, Svetozar; Barret, Eric; Cormio, Luigi; Naito, Seiji; Tefekli, Ahmet; Pilar Laguna Pes, M.

    2016-01-01

    To examine the ability of preoperative clinical characteristics to predict histological features of renal masses (RMs). Data from consecutive patients with clinical stage I RMs treated surgically between 2010 and 2011 in the Clinical Research Office of Endourology Society (CROES) Renal Mass Registry

  5. Clinical Features and Surgical Results of Right Atrial Myxoma.

    Science.gov (United States)

    Li, Han; Guo, Hongwei; Xiong, Hui; Xu, Jianping; Wang, Wei; Hu, Shengshou

    2016-01-01

    We retrospectively analyzed 367 patients receiving surgical resection of cardiac myxomas in our center over six years, and analyzed the incidence and surgical results of 28 cases of right atrial myxomas. We also compared the age, gender, and attached sites between left atrial myxoma and right atrial myxoma. Between January 2007 and December 2012, 28 patients with right atrial myxomas underwent surgical resection. There were 16 males and 12 females. The mean age was 47.77 ± 13.20 years (range: 8.00-79.00 years). Associated cardiac lesions included moderate and severe tricuspid regurgitation in four, coronary atherosclerotic heart disease in five, and pulmonary embolism in one. Twenty-seven patients (96.43%) were followed from 26 to 94 months (mean 55.78 ± 21.10 months). There was no early death after operation. The incidence of right atrial myxomas among sporadic cardiac myxomas was 7.89%. One patient died of lung cancer 34 months after myxoma resection. Two patients underwent coronary artery stent implantation due to coronary atherosclerotic heart disease during the follow-up period. One patient underwent myxoma resection due to recurrence in the left atrium four years after the first operation. There was no significant difference in the age between left atrial myxoma and right atrial myxoma (p > 0.05). There was a significant difference in the gender between left atrial myxomas and right atrial myxomas (p myxomas and right atrial myxomas are the atrial septum. Surgical resection of the right atrial myxoma results in good clinical outcomes and a decreased incidence of recurrence. © 2015 Wiley Periodicals, Inc.

  6. Male breast disease: clinical, mammographic, and ultrasonographic features

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    Guenhan-Bilgen, Isil E-mail: isilbilgen@hotmail.com; Bozkaya, Halil; Uestuen, Esin Emin; Memis, Aysenur

    2002-09-01

    Purpose: To describe and quantitate the radiological (mammographic and ultrasonographic) characteristics of male breast disease and to report the clinical and pathological findings. Materials and methods: Two-hundred-thirty-six male patients with different male breast diseases, diagnosed at our institution between January 1990 and July 2001, were retrospectively evaluated. The history, physical examination, mammographic and ultrasonographic findings were analyzed. Results: The spectrum of the disease in 236 male patients were gynecomastia (n=206), primary breast carcinoma (n=14), fat necrosis (n=5), lipoma (n=3), subareolar abscess (n=2), epidermal inclusion cyst (n=1), sebaceous cyst (n=1), hematoma (n=1), myeloma (n=1), and metastatic carcinoma (n=2). The distribution of patterns of gynecomastia were; 34% (n=71) nodular, 35% (n=73) dendritic and 31% (n=62) diffuse glandular. Gynecomastia was unilateral in 55% (n=113) and bilateral in 45% (n=93) of the patients. Male breast cancer presented as a mass without microcalcifications in 86% (n=12) and with microcalcifications in 7% (n=1) of patients. The mass was obscured by gynecomastia, partially in two, totally in one patient. The location of the mass was retroareolar in 46% (n=6) and eccentric to the nipple in 54% (n=7) of patients. On ultrasonography (US), the contours were well-circumscribed in 20% (n=3) and irregular in 80% (n=12) of the masses. Conclusion: Male breast has a wide spectrum of diseases, some of which have characteristic radiological appearances that can be correlated with their pathologic diagnosis. In the evaluation of the male breast, mammography and US are essential and should be performed along with physical examination.

  7. Clinical features of mesenteric lymphatic malformation in children.

    Science.gov (United States)

    Kim, Soo-Hong; Kim, Hyun-Young; Lee, Cheol; Min, Hye Sook; Jung, Sung-Eun

    2016-04-01

    Mesenteric lymphatic malformations (MLs) are a heterogeneous group of benign diseases of the lymphatic system that present with cystic dilated lymphatics of the mesentery. MLs are rare and represent less than 5% of all lymphatic malformations. The aims of this study were to analyze the characteristics of MLs in children and to suggest a modified classification. We investigated 25 patients who underwent ML surgery. The clinical data and pathological findings were reviewed retrospectively. We divided the patients into 4 groups according to the operative findings. Group 1 included patients with MLs involving the intestinal walls. Group 2 included patients with pedicle-type MLs with no relationship to the mesenteric vessels. Group 3 patients presented with MLs located in the mesenteric boundaries near the mesenteric vessels. Group 4 patients had multicentric and diffusely infiltrated MLs. The male-to-female ratio was 11:14, and the median age at diagnosis was 5years of age. The most common symptom was abdominal pain. The jejunal mesentery was the most frequently involved site in this study. Five patients showed the macrocystic type and 20 patients showed the mixed cystic type. With the exception of one patient with a large mixed cystic-type ML who underwent incomplete mass excision, 24 patients underwent complete mass excision. The group 1 patients (n=14) underwent mass excision performed with segmental resection of the bowel. The group 2 patients (n=3) only underwent mass excision surgery. The patients in group 3 (n=7) underwent mass excision with segmental resection of the intestine because ML excision altered the blood supply of the adjacent intestines. The group 4 patients (n=1) presented with MLs involving the entire mesentery and underwent incomplete excision. The relationships between MLs and the neighboring organs determine the surgical strategy, and the size and location of MLs affect the operative methods. The modified classification based on these findings

  8. [Clinical and pathological features of 16 patients with Gilbert syndrome and 2 cases with genetic analysis].

    Science.gov (United States)

    Peng, Xiang-xin; Wang, Tai-ling

    2008-05-01

    To summarize the clinical and pathological features of Gilbert syndrome. The clinical features and liver histological findings of 16 cases of Gilbert syndrome were reviewed. Of the 16 cases (13 males and 3 females, with an age range from 14 to 40 years), all had recurrent jaundice, unconjugated hyperbilirubinemia and lipofuscin granules in the hepatocytes around the hepatic perivenular areas. The genetic analysis of the two patients showed that the site of genetic mutations were located at exon 1 (Gly71Arg). The diagnosis of Gilbert disease can be improved by combining the data of clinical features, the genetic analysis findings and the histological changes of the livers of the patients.

  9. Actinomycosis: etiology, clinical features, diagnosis, treatment, and management

    Directory of Open Access Journals (Sweden)

    Valour F

    2014-07-01

    Full Text Available Florent Valour,1–3 Agathe Sénéchal,1,2 Céline Dupieux,2–4 Judith Karsenty,1,2 Sébastien Lustig,2,5 Pierre Breton,2,6 Arnaud Gleizal,2,7 Loïc Boussel,2,8,9 Frédéric Laurent,2–4 Evelyne Braun,1 Christian Chidiac,1–3 Florence Ader,1–3 Tristan Ferry1–3 1Service des Maladies Infectieuses et Tropicales, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France; 2Université Claude Bernard Lyon 1, Lyon, France; 3Centre International de Recherche en Infectiologie, CIRI, INSERM U1111, CNRS UMR5308, ENS de Lyon, UCBL1, Lyon, France; 4Laboratoire de Bactériologie, Centre de Biologie du Nord, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France; 5Chirurgie Orthopédique, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France; 6Stomatologie et Chirurgie Maxillo-faciale, Hospices Civils de Lyon, Groupement Hospitalier Sud, Lyon, France; 7Chirurgie Maxillo-faciale, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France; 8Radiologie, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France; 9Creatis, CNRS UMR 5220, INSERM U1044, Université Lyon 1, INSA Lyon, Lyon, France Abstract: Actinomycosis is a rare chronic disease caused by Actinomyces spp., anaerobic Gram-positive bacteria that normally colonize the human mouth and digestive and genital tracts. Physicians must be aware of typical clinical presentations (such as cervicofacial actinomycosis following dental focus of infection, pelvic actinomycosis in women with an intrauterine device, and pulmonary actinomycosis in smokers with poor dental hygiene, but also that actinomycosis may mimic the malignancy process in various anatomical sites. Bacterial cultures and pathology are the cornerstone of diagnosis, but particular conditions are required in order to get the correct diagnosis. Prolonged bacterial cultures in anaerobic conditions are necessary to identify the bacterium and typical microscopic findings include necrosis with

  10. Epidemiologic, clinical, and therapeutic features of acne in Dakar, Senegal.

    Science.gov (United States)

    Kane, Assane; Niang, Suzanne Oumou; Diagne, Awa Cisse; Ly, Fatimata; Ndiaye, Bassirou

    2007-10-01

    skin, is widely used. The exorbitant cost of oral retinoids considerably limits their use in Senegal. Acne, an adolescent pathology, is increasingly being observed in adults using depigmenting cosmetics. The multiple clinical forms are dominated by inflammatory acne. The many relapses and cost of treatment have a detrimental effect on the quality of life of patients.

  11. Postorgasmic Illness Syndrome (POIS) in 45 Dutch caucasian males: clinical characteristics and evidence for an immunogenic pathogenesis (Part 1).

    Science.gov (United States)

    Waldinger, Marcel D; Meinardi, Marcus M H M; Zwinderman, Aeilko H; Schweitzer, Dave H

    2011-04-01

    Postorgasmic illness syndrome (POIS) is a combination of local allergic symptoms and transient flu-like illness. In this study, the investigators propose five preliminary criteria to establish the diagnosis. To describe the clinical details in 45 males being suspected of having POIS and to test an immunogenic hypothesis as the underlying mechanism of their presentations. Forty-five males were studied according to standardized protocol, including neuropsychiatric and medical sexological evaluations; their complaints were categorized using their own words, and their self-perceived intravaginal ejaculation latency time (IELT). Skin-prick testing with autologous diluted semen in 33 men were also performed. Clinical features of POIS including self-perceived IELTs and the results of skin-prick testing with autologous diluted seminal fluid. Of the 45 included men, 33 subjects consented with skin-prick testing. Of them, 29 (88%) men had a positive skin-prick test with their own (autologous) semen, and four had a negative test. In 87% of men, POIS symptoms started within 30 minutes after ejaculation. Complaints of POIS were categorized in seven clusters of symptoms, e.g., general, flu-like, head, eyes, nose, throat, and muscles. Local allergic reactions of eyes and nose were reported in 44% and 33% of subjects, a flu-like syndrome in 78% of subjects, exhaustion and concentration difficulties in 80% and 87% of subjects. Of all subjects, 58% had an atopic constitution. Lifelong premature ejaculation, defined as self-perceived IELT < 1 minute, was reported in 25 (56%) of subjects. The combination of allergic and systemic flu-like reactions post-ejaculation together with a positive skin-prick test in the majority of males underscores the hypothesis of an "immunogenic" etiology of POIS, e.g., that POIS is caused by Type-1 and Type-IV allergy to the males' own semen, as soon it is triggered by ejaculation. © 2011 International Society for Sexual Medicine.

  12. Clinical practice guidelines for the diagnosis and management of melanoma: melanomas that lack classical clinical features.

    Science.gov (United States)

    Mar, Victoria J; Chamberlain, Alex J; Kelly, John W; Murray, William K; Thompson, John F

    2017-10-16

    A Cancer Council Australia multidisciplinary working group is currently revising and updating the 2008 evidence-based clinical practice guidelines for the management of cutaneous melanoma. While there have been many recent improvements in treatment options for metastatic melanoma, early diagnosis remains critical to reducing mortality from the disease. Improved awareness of the atypical presentations of this common malignancy is required to achieve this. A chapter of the new guidelines was therefore developed to aid recognition of atypical melanomas. Main recommendations: Because thick, life-threatening melanomas may lack the more classical ABCD (asymmetry, border irregularity, colour variegation, diameter > 6 mm) features of melanoma, a thorough history of the lesion with regard to change in morphology and growth over time is essential. Any lesion that is changing in morphology or growing over a period of more than one month should be excised or referred for prompt expert opinion. Changes in management as a result of the guidelines: These guidelines provide greater emphasis on improved recognition of the atypical presentations of melanoma, in particular nodular, desmoplastic and acral lentiginous subtypes, with particular awareness of hypomelanotic and amelanotic lesions.

  13. Clinical features of primary biliary cirrhosis: a clinical analysis of 70 cases

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    LU Weiting

    2013-12-01

    Full Text Available ObjectiveTo investigate the clinical features of patients with primary biliary cirrhosis (PBC. MethodsA retrospective analysis was performed on the clinical data of 70 inpatients diagnosed with PBC from January 2008 to March 2013. The initial symptoms, liver function, and antimitochondrial antibody (AMA subtypes (M2, M4, and M9 of patients, as well as the pathological results of 3 cases, were recorded. The increases in alanine aminotransferase (ALT, aspartate aminotransferase (AST, alanine phosphatase (ALP, and gamma-glutamyl transpeptidase (GGT were analyzed by Wilcoxon rank sum test. ResultsOf all patients, 84.3% were females; the mean age was 59.2±8.7 years. The main clinical manifestations included weakness (25.7%, itching (24.3%, discomfort in the upper right abdominal quadrant (18.6%, and abdominal distension (18.6%. Abnormal liver function was mainly characterized by significant increases in GGT (324.5±250.4 U/L and ALP(381.1±259.0 U/L. The number of patients with more than 5-fold increase in GGT was significantly higher than the numbers of patients with more than 5-fold increases in ALT, AST, and ALP (u=-5.861, P=0000; u=-4.036, P=0.000; u=-4.445, P=0.000. The numbers of patients with more than 2-fold increases in AST and ALP were significantly higher than the number of patients with more than 2-fold increase in ALT (u=-4.405, P=0.000; u=-3.625, P=0.000. Among all patients, 87.1% were positive for antimitochondrial M2 antibody (AM2A, 31.4% were positive for AM4A, and 114% were positive for AM9A. ConclusionPBC, more common in females, is the chronic liver damage characterized by significant increases in GGT and ALP. Detection of AMA subtypes (M2, M4and M9 is valuable for confirming the diagnosis of PBC.

  14. Gene Set-Based Functionome Analysis of Pathogenesis in Epithelial Ovarian Serous Carcinoma and the Molecular Features in Different FIGO Stages

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    Chia-Ming Chang

    2016-06-01

    Full Text Available Serous carcinoma (SC is the most common subtype of epithelial ovarian carcinoma and is divided into four stages by the Federation of Gynecologists and Obstetrics (FIGO staging system. Currently, the molecular functions and biological processes of SC at different FIGO stages have not been quantified. Here, we conducted a whole-genome integrative analysis to investigate the functions of SC at different stages. The function, as defined by the GO term or canonical pathway gene set, was quantified by measuring the changes in the gene expressional order between cancerous and normal control states. The quantified function, i.e., the gene set regularity (GSR index, was utilized to investigate the pathogenesis and functional regulation of SC at different FIGO stages. We showed that the informativeness of the GSR indices was sufficient for accurate pattern recognition and classification for machine learning. The function regularity presented by the GSR indices showed stepwise deterioration during SC progression from FIGO stage I to stage IV. The pathogenesis of SC was centered on cell cycle deregulation and accompanied with multiple functional aberrations as well as their interactions.

  15. Modular Architecture and Unique Teichoic Acid Recognition Features of Choline-Binding Protein L (CbpL) Contributing to Pneumococcal Pathogenesis

    Science.gov (United States)

    Gutiérrez-Fernández, Javier; Saleh, Malek; Alcorlo, Martín; Gómez-Mejía, Alejandro; Pantoja-Uceda, David; Treviño, Miguel A.; Voß, Franziska; Abdullah, Mohammed R.; Galán-Bartual, Sergio; Seinen, Jolien; Sánchez-Murcia, Pedro A.; Gago, Federico; Bruix, Marta; Hammerschmidt, Sven; Hermoso, Juan A.

    2016-12-01

    The human pathogen Streptococcus pneumoniae is decorated with a special class of surface-proteins known as choline-binding proteins (CBPs) attached to phosphorylcholine (PCho) moieties from cell-wall teichoic acids. By a combination of X-ray crystallography, NMR, molecular dynamics techniques and in vivo virulence and phagocytosis studies, we provide structural information of choline-binding protein L (CbpL) and demonstrate its impact on pneumococcal pathogenesis and immune evasion. CbpL is a very elongated three-module protein composed of (i) an Excalibur Ca2+-binding domain -reported in this work for the very first time-, (ii) an unprecedented anchorage module showing alternate disposition of canonical and non-canonical choline-binding sites that allows vine-like binding of fully-PCho-substituted teichoic acids (with two choline moieties per unit), and (iii) a Ltp_Lipoprotein domain. Our structural and infection assays indicate an important role of the whole multimodular protein allowing both to locate CbpL at specific places on the cell wall and to interact with host components in order to facilitate pneumococcal lung infection and transmigration from nasopharynx to the lungs and blood. CbpL implication in both resistance against killing by phagocytes and pneumococcal pathogenesis further postulate this surface-protein as relevant among the pathogenic arsenal of the pneumococcus.

  16. Diagnosis of Hair Loss: Clinical features of common causes of hair loss

    OpenAIRE

    Coupe, Robert L.M.

    1992-01-01

    Common causes of hair loss include androgenic hair loss, alopecia areata, trichotillomania, tinea capitis, telogen effluvium, and traction alopecia. The author discusses their distinguishing clinical features and those of less common alopecias.

  17. Clinical features and management of non-HIV related lipodystrophy in children: A systematic review

    Science.gov (United States)

    Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue. We conducted a systematic review to synthesize data on clinical and metabolic features of lipodystrophy (age at onset, Scopus and Non-Indexe...

  18. Clinical features of dysthyroid optic neuropathy: a European Group on Graves' Orbitopathy (EUGOGO) survey

    NARCIS (Netherlands)

    McKeag, David; Lane, Carol; Lazarus, John H.; Baldeschi, Lelio; Boboridis, Kostas; Dickinson, A. Jane; Hullo, A. Iain; Kahaly, George; Krassas, Gerry; Marcocci, Claudio; Marinò, Michele; Mourits, Maarten P.; Nardi, Marco; Neoh, Christopher; Orgiazzi, Jacques; Perros, Petros; Pinchera, Aldo; Pitz, Susanne; Prummel, Mark F.; Sartini, Maria S.; Wiersinga, Wilmar M.

    2007-01-01

    BACKGROUND: This study was performed to determine clinical features of dysthyroid optic neuropathy (DON) across Europe. METHODS: Forty seven patients with DON presented to seven European centres during one year. Local protocols for thyroid status, ophthalmic examination and further investigation

  19. Serum zinc levels as a predictor of clinical features and outcome of ...

    African Journals Online (AJOL)

    Serum zinc levels as a predictor of clinical features and outcome of paediatric acute lower respiratory infections in Nigeria. RM Ibraheem, WBR Johnson, AA Abdulkarim, MB Abdulkadir, D Oladele, SA Biliaminu ...

  20. Pathogenesis of Idiopathic Pulmonary Fibrosis

    Science.gov (United States)

    Wolters, Paul J.; Collard, Harold R.; Jones, Kirk D.

    2014-01-01

    Idiopathic pulmonary fibrosis (IPF) is a fibrosing interstitial lung disease associated with aging that is characterized by the histopathological pattern of usual interstitial pneumonia. Although an understanding of the pathogenesis of IPF is incomplete, recent advances delineating specific clinical and pathologic features of IPF have led to better definition of the molecular pathways that are pathologically activated in the disease. In this review we highlight several of these advances, with a focus on genetic predisposition to IPF and how genetic changes, which occur primarily in epithelial cells, lead to activation of profibrotic pathways in epithelial cells. We then discuss the pathologic changes within IPF fibroblasts and the extracellular matrix, and we conclude with a summary of how these profibrotic pathways may be interrelated. PMID:24050627

  1. Advances in understanding and managing rosacea: part 1: connecting the dots between pathophysiological mechanisms and common clinical features of rosacea with emphasis on vascular changes and facial erythema.

    Science.gov (United States)

    Del Rosso, James Q

    2012-03-01

    Rosacea is a common inflammatory facial dermatoses affecting primarily adults with fair skin, although all skin types may be affected. The diagnostic term "rosacea" reflects a spectrum of clinical features with the more common presentations characterized by increased blood flow and vasodilation during disease flares, which accentuate central facial erythema. Inflammatory lesions, usually papules and/or pustules are present in some cases. Variations in magnitude of the associated features of rosacea are noted clinically. Over time, other clinical features emerge or may be further accentuated, such as diffuse facial erythema and telangiectasias, as fixed changes in cutaneous vasculature occur. These later findings account for persistent diffuse facial erythema usually accentuated centrally on the inner cheeks, chin, nose, and/or medial forehead. Some patients may also develop phymatous changes and/or have concurrent ocular rosacea. Augmented innate immune response to certain triggers (often exogenous) and neurovascular/neuroimmune dysregulation appear to be involved early in the pathophysiological sequence of cutaneous rosacea and appear to signal other downstream inflammatory or physiochemical cascades that contribute to the pathogenesis of the disorder. In this article, Part 1 of a two-part series, emphasis is placed upon the correlation of clinical features and underlying pathophysiological changes in the more common presentations of rosacea encountered by the clinician. The importance of this information is that some of these pathogenic mechanisms are modulated by available therapies, and others remain as targets for the development of new therapeutic agents or modalities.

  2. Pathogenesis of Varicelloviruses in primates

    Science.gov (United States)

    Ouwendijk, Werner J.D.; Verjans, Georges M.G.M.

    2014-01-01

    Varicelloviruses in primates comprise the prototypic human varicella-zoster virus (VZV) and its non-human primate homologue simian varicella virus (SVV). Both viruses cause varicella as a primary infection, establish latency in ganglionic neurons and reactivate later in life to cause herpes zoster in their respective hosts. VZV is endemic worldwide and although varicella is usually a benign disease in childhood, VZV reactivation is a significant cause of neurological disease in the elderly and in immunocompromised individuals. The pathogenesis of VZV infection remains ill-defined, mostly due to the species restriction of VZV that impedes studies in experimental animal models. SVV infection of non-human primates parallels virological, clinical, pathological and immunological features of human VZV infection, thereby providing an excellent model to study the pathogenesis of varicella and herpes zoster in its natural host. In this review, we discuss recent studies that provided novel insight in both the virus and host factors involved in the three elementary stages of Varicellovirus infection in primates: primary infection, latency and reactivation. PMID:25255989

  3. Pathogenesis of varicelloviruses in primates.

    Science.gov (United States)

    Ouwendijk, Werner J D; Verjans, Georges M G M

    2015-01-01

    Varicelloviruses in primates comprise the prototypic human varicella-zoster virus (VZV) and its non-human primate homologue, simian varicella virus (SVV). Both viruses cause varicella as a primary infection, establish latency in ganglionic neurons and reactivate later in life to cause herpes zoster in their respective hosts. VZV is endemic worldwide and, although varicella is usually a benign disease in childhood, VZV reactivation is a significant cause of neurological disease in the elderly and in immunocompromised individuals. The pathogenesis of VZV infection remains ill-defined, mostly due to the species restriction of VZV that impedes studies in experimental animal models. SVV infection of non-human primates parallels virological, clinical, pathological and immunological features of human VZV infection, thereby providing an excellent model to study the pathogenesis of varicella and herpes zoster in its natural host. In this review, we discuss recent studies that provided novel insight in both the virus and host factors involved in the three elementary stages of Varicellovirus infection in primates: primary infection, latency and reactivation. Copyright © 2014 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  4. Microvascular Coronary Artery Spasm Presents Distinctive Clinical Features With Endothelial Dysfunction as Nonobstructive Coronary Artery Disease

    OpenAIRE

    Ohba, Keisuke; Sugiyama, Seigo; Sumida, Hitoshi; Nozaki, Toshimitsu; Matsubara, Junichi; Matsuzawa, Yasushi; Konishi, Masaaki; Akiyama, Eiichi; Kurokawa, Hirofumi; Maeda, Hirofumi; Sugamura, Koichi; Nagayoshi, Yasuhiro; Morihisa, Kenji; Sakamoto, Kenji; Tsujita, Kenichi

    2012-01-01

    Background Angina without significant stenosis, or nonobstructive coronary artery disease, attracts clinical attention. Microvascular coronary artery spasm (microvascular CAS) can cause nonobstructive coronary artery disease. We investigated the clinical features of microvascular CAS and the therapeutic efficacy of calcium channel blockers. Methods and Results Three hundred seventy consecutive, stable patients with suspected angina presenting nonobstructive coronary arteries (

  5. The clinical features of mania and their representation in modern diagnostic criteria.

    Science.gov (United States)

    Kendler, K S

    2017-04-01

    This review seeks to determine the degree to which modern operationalized diagnostic criteria for mania reflect the clinical features of mania described historically by expert textbook authors. Clinical descriptions of mania appearing in 18 textbooks published between 1899 and 1956 were reviewed and compared to the criteria for mania from six modern operationalized diagnostic systems. Twenty-two prominent symptoms and signs were reported by five or more authors. Two symptoms (elevated mood and grandiosity) and four signs (hyperactivity, pressured speech, irritability, and new activities with painful consequences) were reported by every author. A strong relationship was seen between the frequency with which the clinical features were reported and the likelihood of their inclusion in modern diagnostic systems. However, many symptoms and signs including impulsivity, hypersexuality, mood lability, altered moral standards, increased humor, hypergraphia, and a vigorous physical appearance were not included in any modern criteria. Indeed, DSM-5 contains only eight of the historically noted clinical features. We conclude that modern operationalized criteria for mania well reflect symptoms and signs frequently reported by historical experts. This suggests that the clinical construct of mania has been relatively stable in western Psychiatry since the turn of the 20th century. However, many useful clinical features of mania described in these textbooks are missing from these criteria thereby illustrating the limitations of clinical evaluations restricted to the assessment of only current diagnostic criteria. The disorders we study and treat are considerably richer clinically than is reflected in the DSM criteria which we use to diagnose them.

  6. Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure

    NARCIS (Netherlands)

    Alonso-Perez, Elisa; Suarez-Gestal, Marian; Calaza, Manuel; Witte, Torsten; Papasteriades, Chryssa; Marchini, Maurizio; Migliaresi, Sergio; Kovacs, Attila; Ordi-Ros, Josep; Bijl, Marc; Santos, Maria Jose; Ruzickova, Sarka; Pullmann, Rudolf; Carreira, Patricia; Skopouli, Fotini N.; D'Alfonso, Sandra; Sebastiani, Gian Domenico; Suarez, Ana; Blanco, Francisco J.; Gomez-Reino, Juan J.; Gonzalez, Antonio

    2011-01-01

    Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population

  7. Clinical Features and Outcome in Newly Diagnosed Hodgkin Lymphoma Patients Presenting with PET/CT-Ascertained Focal Skeletal Lesions

    DEFF Research Database (Denmark)

    El-Galaly, Tarec Christoffer; Hutchings, Martin; Juul Mylam, Karen

    Clinical Features and Outcome in Newly Diagnosed Hodgkin Lymphoma Patients Presenting with PET/CT-Ascertained Focal Skeletal Lesions......Clinical Features and Outcome in Newly Diagnosed Hodgkin Lymphoma Patients Presenting with PET/CT-Ascertained Focal Skeletal Lesions...

  8. Association between histological features in temporal artery biopsies and clinical features of patients with giant cell arteritis.

    Science.gov (United States)

    Breuer, Gabriel S; Nesher, Ronit; Reinus, Konstantin; Nesher, Gideon

    2013-06-01

    In most cases of giant cell arteritis (GCA) the diagnosis is confirmed by temporal artery biopsy. Aside from the diagnostic purpose, histological parameters may serve as prognostic markers. To review positive temporal artery biopsies ofGCA in an attempt to correlate various histological parameters with clinical features, disease complications and outcome. Positive biopsies from 65 GCA patients were randomly selected for review by a single pathologist. In each biopsy the following parameters were scored: intensity and location of the inflammatory infiltrate, presence of giant cells and other cell types, fragmentation and calcification of the internal elastic lamina, intimal thickening, and presence of luminal thrombus. Clinical data were obtained from the patients' charts. Intensity of the initial systemic inflammatory reaction (ISIR) at the time of diagnosis was scored by the presence of five parameters: fever, anemia, thrombocytosis, leukocytosis, and sedimentation rate >100 mm/hr. In cases with bilateral positive biopsy (n=27), there was good correlation between the two sides regarding intensity of inflammation (r= 0.65, P< 0.001), location of the infiltrate (r= 0.7, P< 0.001), degree of intimal thickening (r= 0.54, P 0.001), and presence of giant cells (r= 0.83, P< 0.001). The rate of corticosteroid discontinuation tended to be quicker in patients with inflammatory infiltrates confined mainly to the adventitia, but other histological parameters did not affect this rate. Inflammatory infiltrates confined to the adventitia were associated with more neuro-ophthalmic ischemic manifestations, weak/moderate ISIR at the time of diagnosis, and faster rate of corticosteroid discontinuation. No association was found between other temporal artery biopsy histological parameters and clinical features of GCA patients.

  9. The role of abnormally activated microglia in the pathogenesis of Parkinson's disease and its potential clinical application

    Directory of Open Access Journals (Sweden)

    DING Jian-qing

    2013-02-01

    Full Text Available Parkinson's disease (PD is a neurodegenerative disorder which usually affects old-aged people, and the mechanism underling the disease still remains unknown. Recent studies have suggested that abnormally activated microglia plays an important role in the pathogenesis of the disease. Several stimuli, such as α-synuclein, neurotoxins, aging, as well as attenuated or deficient inhibiting signals of endogenous CD200-CD200R can cause the abnormal activation of microglia, which will result in dopaminergic neuron injuries through secreting pro-inflammatory cytokines such as tumor necrosis factor-α (TNF-α and interleukin-1β (IL-1β, activating inducible nitric oxide synthase (iNOS, cyclooxygenase-2 (COX-2 and nicotinamide adenine dinucleotide phosphate oxidase-2 (NOX-2. Therefore, it may be a novel way for PD therapy to inhibit neuroinflammatory injuries by suppressing the abnormal activation of microglia.

  10. Clinical features of acute respiratory viral infections in children in conjunction with pathology of pharyngeal tonsil

    OpenAIRE

    Олександр Іванович Сміян; Євгенія Василівна Дмітрова; Олена Геннадіївна Васильєва

    2015-01-01

    Aim: to study clinical features of the clinical course of an acute respiratory viral infection in conjunction with pathology of pharyngeal tonsil in children of preschool age. Methods: generally clinical;Laboratory and instrumental;Statistical.Separation of viral infection was done using the methods of lumicroscopy and polymerase chain reaction from nasopharynx lavage.Statistical processing of received results was carried out with the help of standard statistical computer system «MicrosoftExc...

  11. Epidemiologic and Clinical Features of Measles and Rubella in a Rural Area in China

    Directory of Open Access Journals (Sweden)

    Youwang Yan

    2005-12-01

    Conclusion: Measles and rubella are 2 common communicable diseases in the children of Jingzhou District, with outbreaks being the main epidemic form. Some clinical features such as temperature, duration of the prodromal stage and exanthema are different in measles and rubella, and they can be useful in distinguishing between the 2 diseases. Accuracy in the clinical diagnosis of measles should be improved by enhancing serologic testing for measles and rubella, and by identifying patients' specific clinical characteristics.

  12. Brucellosis in Kosovo and Clinical Features of Brucellosis at University clinical center of Kosovo

    OpenAIRE

    Emine Qehaja Buçaj; Edmond Puca; Sadie Namani; Muharem Bajrami; Valbon Krasniqi; Lindita Ajazaj Berisha; Xhevat Jakupi; Bahrie Halili; Dhimiter Kraja

    2015-01-01

    Objective: Brucellosis became a remarkable disease in Kosovo. But there is not a comprehensive epidemiological study about pidemiology and clinical course of this disease from Kosovo. The aim of our study is to present demographic and clinical data of patients with brucellosis at University Clinical Center of Kosovo.Methods: A retrospective study was performed for the patients with brucellosis treated in our clinic during years 2011- 2012. The data about demography, history of the disease, cl...

  13. Evaluation of Symptoms and Characteristic Features of Lead Poisoning and their Assistance in Clinical Decision Making

    OpenAIRE

    D'souza HS; Menezes G; Dsouza SA; Venkatesh T

    2015-01-01

    Aim of the present study is to evaluate the symptoms and characteristics features in lead based industrial workers and accessing their reliability in clinical decision making and diagnosing lead toxicity. Study involves 15 industrial workers (exposed) and 15 non-exposed individuals, matched for age, sex and nationality selected from Bangalore, India. Association of various symptoms and characteristic features in exposed and non-exposed groups were evaluated and their association with high ...

  14. Serologic features of primary Sjögren’s syndrome: clinical and prognostic correlation

    Science.gov (United States)

    García-Carrasco, Mario; Mendoza-Pinto, Claudia; Jiménez-Hernández, César; Jiménez-Hernández, Mario; Nava-Zavala, Arnulfo; Riebeling, Carlos

    2013-01-01

    Sjögren’s syndrome (SS) is a chronic inflammatory systemic autoimmune disease. The disease spectrum extends from sicca syndrome to systemic involvement and extraglandular manifestations, and SS may be associated with malignancies, especially non-Hodgkin’s lymphoma. Patients with SS present a broad spectrum of serologic features. Certain serological findings are highly correlated with specific clinical features, and can be used as prognostic markers. PMID:23525186

  15. [Roles of histamine in the pathogenesis of bronchial asthma and reevaluation of the clinical usefulness of antihistamines].

    Science.gov (United States)

    Yamauchi, Kohei; Shikanai, Toshiki; Nakamura, Yutaka; Kobayashi, Hitoshi; Ogasawara, Masahito; Maeyama, Kazutaka

    2011-02-01

    Histamine has been reported to play an important role in pathogenesis of bronchial asthma. However, H1-blockers are not recommended as the first drug for asthma therapy in the guidelines. Histamine may play various roles in allergic airway inflammation through the H1 receptor (H1R), H2R, and H4R in immune cells including T lymphocytes and dendritic cells. We therefore evaluated its role in allergic airway inflammation with the use of histamine-deficient mice. The results suggested that histamine plays a role in the prevention of goblet cell hyperplasia. Organic cation transporter-3 (OCT-3) is thought to be a transporter of histamine. Polymorphism of OCT-3 {R120R (T/C)} was associated with the severity of asthma. Recently, it has been proposed that both asthma and allergic rhinitis should be treated as a single airway disease. Comorbidity of asthma and allergic rhinitis is very high (70-80%) and they share similar allergic inflammation. H1-blockers are recommended as first-line drugs to treat allergic rhinitis in the guidelines. Therefore H1-blockers are strongly recommended for patients with both asthma and allergic rhinitis.

  16. Evaluation of features to support safety and quality in general practice clinical software

    Directory of Open Access Journals (Sweden)

    Schattner Peter

    2011-05-01

    Full Text Available Abstract Background Electronic prescribing is now the norm in many countries. We wished to find out if clinical software systems used by general practitioners in Australia include features (functional capabilities and other characteristics that facilitate improved patient safety and care, with a focus on quality use of medicines. Methods Seven clinical software systems used in general practice were evaluated. Fifty software features that were previously rated as likely to have a high impact on safety and/or quality of care in general practice were tested and are reported here. Results The range of results for the implementation of 50 features across the 7 clinical software systems was as follows: 17-31 features (34-62% were fully implemented, 9-13 (18-26% partially implemented, and 9-20 (18-40% not implemented. Key findings included: Access to evidence based drug and therapeutic information was limited. Decision support for prescribing was available but varied markedly between systems. During prescribing there was potential for medicine mis-selection in some systems, and linking a medicine with its indication was optional. The definition of 'current medicines' versus 'past medicines' was not always clear. There were limited resources for patients, and some medicines lists for patients were suboptimal. Results were provided to the software vendors, who were keen to improve their systems. Conclusions The clinical systems tested lack some of the features expected to support patient safety and quality of care. Standards and certification for clinical software would ensure that safety features are present and that there is a minimum level of clinical functionality that clinicians could expect to find in any system.

  17. Evaluation of features to support safety and quality in general practice clinical software

    Science.gov (United States)

    2011-01-01

    Background Electronic prescribing is now the norm in many countries. We wished to find out if clinical software systems used by general practitioners in Australia include features (functional capabilities and other characteristics) that facilitate improved patient safety and care, with a focus on quality use of medicines. Methods Seven clinical software systems used in general practice were evaluated. Fifty software features that were previously rated as likely to have a high impact on safety and/or quality of care in general practice were tested and are reported here. Results The range of results for the implementation of 50 features across the 7 clinical software systems was as follows: 17-31 features (34-62%) were fully implemented, 9-13 (18-26%) partially implemented, and 9-20 (18-40%) not implemented. Key findings included: Access to evidence based drug and therapeutic information was limited. Decision support for prescribing was available but varied markedly between systems. During prescribing there was potential for medicine mis-selection in some systems, and linking a medicine with its indication was optional. The definition of 'current medicines' versus 'past medicines' was not always clear. There were limited resources for patients, and some medicines lists for patients were suboptimal. Results were provided to the software vendors, who were keen to improve their systems. Conclusions The clinical systems tested lack some of the features expected to support patient safety and quality of care. Standards and certification for clinical software would ensure that safety features are present and that there is a minimum level of clinical functionality that clinicians could expect to find in any system.

  18. CHRONIC URTICARIAL IN CHILDHOOD. CLINICAL FEATURES OF CHRONIC URTICARIA IN CHILDREN. DIFFERENTIAL DIAGNOSTICS (PART II

    Directory of Open Access Journals (Sweden)

    N. A. Sinelnikova

    2013-01-01

    Full Text Available Abstract. Clinical structure of urticaria has been changed over last decade, due to discovery of an autoimmune form of the disease. This clinical form of chronic idiopathic urticaria comprises 30 to 52% of total. Incidence of physical urticaria varies from 17 to 20%, whereas other forms, including allergic urticaria, are diagnosed for < 5% of the patients. Different types of chronic urticaria exhibit their typical immunological features and clinical characteristics. A joint study of European Expert Group for Allergology, Clinical Immunology and Dermatology (EAACI/GA2LEN/EDF/UNEV is going on. Appropriate recommendations are aimed for improvement of diagnosis and management of children with this disease.

  19. Non-Esterified Fatty Acids Profiling in Rheumatoid Arthritis: Associations with Clinical Features and Th1 Response.

    Directory of Open Access Journals (Sweden)

    Javier Rodríguez-Carrio

    Full Text Available Since lipid compounds are known to modulate the function of CD4+ T-cells and macrophages, we hypothesize that altered levels of serum non-esterified fatty acids (NEFA may underlie rheumatoid arthritis (RA pathogenesis.Serum levels of NEFA (palmitic, stearic, palmitoleic, oleic, linoleic, γ-linoleic, arachidonic -AA-, linolenic, eicosapentaenoic -EPA- and docosahexaenoic -DHA- were quantified by LC-MS/MS after methyl-tert-butylether (MTBE-extraction in 124 RA patients and 56 healthy controls (HC. CD4+ phenotype was studied by flow cytometry. TNFα, IL-8, VEGF, GM-CSF, IFNγ, IL-17, CCL2, CXCL10, leptin and resistin serum levels were quantified by immunoassays. The effect of FA on IFNγ production by PBMC was evaluated in vitro.Lower levels of palmitic (p<0.0001, palmitoleic (p = 0.002, oleic (p = 0.010, arachidonic (p = 0.027, EPA (p<0.0001 and DHA (p<0.0001 were found in RA patients, some NEFA being altered at onset. Cluster analysis identified a NEFA profile (hallmarked by increased stearic and decreased EPA and DHA overrepresented in RA patients compared to HC (p = 0.002, being associated with clinical features (RF, shared epitope and erosions, increased IFNγ expression in CD4+ T-cells (p = 0.002 and a Th1-enriched serum milieu (IFNγ, CCL2 and CXCL10, all p<0.005. In vitro assays demonstrated that imbalanced FA could underlie IFNγ production by CD4+ T-cells. Finally, changes on NEFA levels were associated with clinical response upon TNFα-blockade.An altered NEFA profile can be found in RA patients associated with clinical characteristics of aggressive disease and enhanced Th1 response. These results support the relevance of lipidomic studies in RA and provide a rationale for new therapeutic targets.

  20. Clinical Features in a Danish Population-Based Cohort of Probable Multiple System Atrophy Patients

    DEFF Research Database (Denmark)

    Starhof, Charlotte; Korbo, Lise; Lassen, Christina Funch

    2016-01-01

    Background: Multiple system atrophy (MSA) is a rare, sporadic and progressive neurodegenerative disorder. We aimed to describe the clinical features of Danish probable MSA patients, evaluate their initial response to dopaminergic therapy and examine mortality. Methods: From the Danish National...... the criteria for probable MSA. We recorded clinical features, examined differences by MSA subtype and used Kaplan-Meier survival analysis to examine mortality. Results: The mean age at onset of patients with probable MSA was 60.2 years (range 36-75 years) and mean time to wheelchair dependency was 4.7 years...

  1. Ten novel FBN2 mutations in congenital contractural arachnodactyly : Delineation of the molecular pathogenesis and clinical phenotype

    NARCIS (Netherlands)

    Gupta, PA; Putnam, EA; Carmical, SG; Kaitila, [No Value; Steinmann, B; Child, A; Danesino, C; Metcalfe, K; Berry, SA; Chen, E; Delorme, CV; Thong, MK; Ades, LC; Milewicz, DM

    2002-01-01

    Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications that characterize MFS. CCA and MFS result from mutations in highly similar genes, FBN2 and FBN1,

  2. Prolonged urticaria with purpura: the spectrum of clinical and histopathologic features in a prospective series of 22 patients exhibiting the clinical features of urticarial vasculitis.

    Science.gov (United States)

    Lee, Joyce Siong See; Loh, Teck Hiong; Seow, Swee Chong; Tan, Suat Hoon

    2007-06-01

    Biopsy specimens of lesions with clinical features of urticarial vasculitis often show a predominantly lymphocytic infiltrate with eosinophils and red blood cell extravasation. Only occasionally is a leukocytoclastic vasculitis encountered, confirming a diagnosis of urticarial vasculitis. The aim of this study was to assess the clinical presentation and histologic features of patients who meet the clinical criteria for urticarial vasculitis. Patients were recruited who had persistent urticarial lesions individually lasting longer than 24 hours, associated with at least 2 of 3 of the following: pain or tenderness; purpura or dusky changes; and resolution with hyperpigmentation. Patients were interviewed based on a standard questionnaire with regard to their symptoms. Blood tests and chest radiographs were performed to exclude systemic involvement and hypocomplementemia. Skin biopsy specimens were sent for histology and direct immunofluorescence. Of 22 patients recruited, 19 (86.4%) showed a predominantly lymphocytic infiltrate on histology. Three cases (13.6%) had a neutrophil-predominant infiltrate associated with a leukocytoclastic vasculitis. Twenty (90.9%) had a superficial perivascular infiltrate, and two (9.1%) had a superficial and deep perivascular infiltrate. In all, 21 biopsy specimens (95.5%) showed inflammatory cells within dermal blood vessel walls, obscuring the vessel outline in some. Endothelial cell swelling was seen in 20 biopsy specimens (90.9%), erythrocyte extravasation in 17 (77.3%), nuclear dust in 5 (22.7%), and fibrin extravasation in 2 (9.1%). Multivariate analysis revealed the following features to be independently associated with neutrophil predominance: fulfillment of all 3 minor criteria for urticarial vasculitis-like lesions (P = .007); presence of fibrin on histology (P urticarial vasculitis reveal that only a minority of patients has leukocytoclastic vasculitis. The majority has a lymphocyte-predominant histology, associated with

  3. Clinical significance of histological features of thrombi in patients with myocardial infarction.

    Science.gov (United States)

    Sebben, Juliana Canedo; Cambruzzi, Eduardo; Avena, Luisa Martins; Gazeta, Cristina do Amaral; Gottschall, Carlos Antonio Mascia; Quadros, Alexandre Schaan de

    2013-12-01

    Percutaneous Coronary Intervention (PCI) is the most common strategy for the treatment of Acute ST segment elevation Myocardia Infarction (STEMI), and thromboaspiration has been increasingly utilized for removal of occlusive thrombi. To analyze the influence of histopathological features of coronary thrombi in clinical outcomes of patients with STEMI, and the association of these variables with clinical, angiographic, and laboratory features and medications used in hospitalization. Prospective cohort study. All patients were monitored during hospitalization and thirty days after the event. Aspirated thrombi were preserved in formalin and subsequently stained with hematoxylin-eosin and embedded in paraffin. Thrombi were classified as recent and old. The primary outcome was the occurrence of major cardiovascular events within thirty days. During the study period, 1,149 patients were evaluated with STEMI, and 331 patients underwent thrombi aspiration, leaving 199 patients available for analysis. It was identified recent thrombi in 116 patients (58%) and old thrombi in 83 patients (42%). Recent thrombi have greater infiltration of red blood cells than old thrombi (p = 0.02), but there were no statistically significant differences between other clinical, angiographic, laboratory, and histopathological features and medications in both group of patients. The rates of clinical outcomes were similar in both groups. Recent thrombi were identified in 58% of patients with STEMI and it was observed an association with infiltration of red blood cells. There was no association between histopathological features of thrombi and clinical variables and cardiovascular outcomes.

  4. Clinical Significance of Histological Features of Thrombi in Patients with Myocardial Infarction

    Science.gov (United States)

    Sebben, Juliana Canedo; Cambruzzi, Eduardo; Avena, Luisa Martins; Gazeta, Cristina do Amaral; Gottschall, Carlos Antonio Mascia; de Quadros, Alexandre Schaan

    2013-01-01

    Background Percutaneous Coronary Intervention (PCI) is the most common strategy for the treatment of Acute ST segment elevation Myocardial Infarction (STEMI), and thromboaspiration has been increasingly utilized for removal of occlusive thrombi. Objectives To analyze the influence of histopathological features of coronary thrombi in clinical outcomes of patients with STEMI, and the association of these variables with clinical, angiographic, and laboratory features and medications used in hospitalization. Methods Prospective cohort study. All patients were monitored during hospitalization and thirty days after the event. Aspirated thrombi were preserved in formalin and subsequently stained with hematoxylin-eosin and embedded in paraffin. Thrombi were classified as recent and old. The primary outcome was the occurrence of major cardiovascular events within thirty days. Results During the study period, 1,149 patients were evaluated with STEMI, and 331 patients underwent thrombi aspiration, leaving 199 patients available for analysis. It was identified recent thrombi in 116 patients (58%) and old thrombi in 83 patients (42%). Recent thrombi have greater infiltration of red blood cells than old thrombi (p = 0.02), but there were no statistically significant differences between other clinical, angiographic, laboratory, and histopathological features and medications in both group of patients. The rates of clinical outcomes were similar in both groups. Conclusions Recent thrombi were identified in 58% of patients with STEMI and it was observed an association with infiltration of red blood cells. There was no association between histopathological features of thrombi and clinical variables and cardiovascular outcomes. PMID:24162472

  5. Clinical Significance of Histological Features of Thrombi in Patients with Myocardial Infarction

    Energy Technology Data Exchange (ETDEWEB)

    Sebben, Juliana Canedo; Cambruzzi, Eduardo; Avena, Luisa Martins; Gazeta, Cristina do Amaral; Gottschall, Carlos Antonio Mascia; Quadros, Alexandre Schaan de, E-mail: quadros.pesquisa@gmail.com [Instituto de Cardiologia / Fundação Universitária de Cardiologia - IC/FUC, Porto Alegre, RS (Brazil)

    2013-12-15

    Percutaneous Coronary Intervention (PCI) is the most common strategy for the treatment of Acute ST segment elevation Myocardial Infarction (STEMI), and thromboaspiration has been increasingly utilized for removal of occlusive thrombi. To analyze the influence of histopathological features of coronary thrombi in clinical outcomes of patients with STEMI, and the association of these variables with clinical, angiographic, and laboratory features and medications used in hospitalization. Prospective cohort study. All patients were monitored during hospitalization and thirty days after the event. Aspirated thrombi were preserved in formalin and subsequently stained with hematoxylin-eosin and embedded in paraffin. Thrombi were classified as recent and old. The primary outcome was the occurrence of major cardiovascular events within thirty days. During the study period, 1,149 patients were evaluated with STEMI, and 331 patients underwent thrombi aspiration, leaving 199 patients available for analysis. It was identified recent thrombi in 116 patients (58%) and old thrombi in 83 patients (42%). Recent thrombi have greater infiltration of red blood cells than old thrombi (p = 0.02), but there were no statistically significant differences between other clinical, angiographic, laboratory, and histopathological features and medications in both group of patients. The rates of clinical outcomes were similar in both groups. Recent thrombi were identified in 58% of patients with STEMI and it was observed an association with infiltration of red blood cells. There was no association between histopathological features of thrombi and clinical variables and cardiovascular outcomes.

  6. Clinical features of diabetes mellitus in Japan as observed in a hospital outpatient clinic

    Energy Technology Data Exchange (ETDEWEB)

    Wada, Sunao; Toda, Shintaro; Omori, Yoshiaki; Yamakido, Michio; Blackard, W.G.

    1963-04-18

    A university diabetes clinic in Japan was characterized by age at examination, age at onset, sex ratio, microangiopathies, atherosclerotic complications, weight, heredity, and diet. The findings in this clinic, along with those from other diabetes clinics in Japan, were compared with studies on Western diabetics. The similarities between the 2 diabetic populations far outnumbered the dissimilarities. However, diabetes mellitus in Japan is distinguished by infrequent occurrence of juvenile diabetes and ketosis, relative lack of atherosclerotic complications, and reversal of the sex ratio. 39 references, 7 tables.

  7. Molecular mechanisms of rosacea pathogenesis

    Directory of Open Access Journals (Sweden)

    Davydova A.M.

    2013-09-01

    Full Text Available The article presents possible molecular mechanisms for rosacea pathogenesis from current domestic and foreign clinical observations and laboratory research: regulation and expression defects of antimicrobial peptides, vascular endothelial growth factor, the effect of serine proteases, oxidative stress, reactive oxygen species and ferritin on the occurrence and course of rosacea. New developments in molecular biology and genetics are advanced for researching the interaction of multiple factors involved in rosacea pathogenesis, as well as providing the bases for potentially new therapies.

  8. Socio-demographic, Clinical and Laboratory Features of Rotavirus Gastroenteritis in Children Treated in Pediatric Clinic

    OpenAIRE

    Azemi, Mehmedali; Berisha, Majlinda; Ismaili-Jaha, Vlora; Kolgeci, Selim; Avdiu, Muharrem; Jakupi, Xhevat; Hoxha, Rina; Hoxha-Kamberi, Teuta

    2013-01-01

    Aim: The aim of work was presentation of several socio-demographic, clinical and laboratory characteristics of gastroenteritis caused by rotavirus. The examinees and methods: The examinees were children under the age of five years treated at the Pediatric Clinic due to acute gastroenteritis caused by rotavirus. Rotavirus is isolated by method chromatographic immunoassay by Cer Test Biotec. Results: From the total number of patients (850) suffering from acute gastroenteritis, feces test on bac...

  9. Medical Home Features of VHA Primary Care Clinics and Avoidable Hospitalizations.

    Science.gov (United States)

    Yoon, Jean; Rose, Danielle E; Canelo, Ismelda; Upadhyay, Anjali S; Schectman, Gordon; Stark, Richard; Rubenstein, Lisa V; Yano, Elizabeth M

    2013-09-01

    As the Veterans Health Administration (VHA) reorganizes providers into the patient-centered medical home, questions remain whether this model of care can demonstrate improved patient outcomes and cost savings. We measured adoption of medical home features by VHA primary care clinics prior to widespread implementation of the patient-centered medical home and examined if they were associated with lower risk and costs of potentially avoidable hospitalizations. Secondary patient data was linked to clinic administrative and survey data. Patient and clinic factors in the baseline year (FY2009) were used to predict patient outcomes in the follow-up year. 2,853,030 patients from 814 VHA primary care clinics Patient outcomes were measured by hospitalizations for an ambulatory care sensitive condition (ACSC) and their costs and identified through diagnosis and procedure codes from inpatient records. Clinic adoption of medical home features was obtained from the American College of Physicians Medical Home Builder®. The overall mean home builder score in the study clinics was 88 (SD = 13) or 69%. In adjusted analyses an increase of 10 points in the medical home adoption score in a clinic decreased the odds of an ACSC hospitalization for patients by 3% (P = 0.032). By component, higher access and scheduling (P = 0.004) and care coordination and transitions (P = 0.020) component scores were related to lower risk of an ACSC hospitalization, and higher population management was related to higher risk (P = 0.023). Total medical home features was not related to ACSC hospitalization costs among patients with at least one (P = 0.074). Greater adoption of medical home features by VHA primary care clinics was found to be significantly associated with lower risk of avoidable hospitalizations with access and scheduling and care coordination/transitions in care as key factors.

  10. Histological, Immunohistological, and Clinical Features of Merkel Cell Carcinoma in Correlation to Merkel Cell Polyomavirus Status

    Directory of Open Access Journals (Sweden)

    T. Jaeger

    2012-01-01

    Full Text Available Merkel cell carcinoma is a rare, but highly malignant tumor of the skin with high rates of metastasis and poor survival. Its incidence rate rises and is currently about 0.6/100000/year. Clinical differential diagnoses include basal cell carcinoma, cyst, amelanotic melanoma, lymphoma and atypical fibroxanthoma. In this review article clinical, histopathological and immunhistochemical features of Merkel cell carcinoma are reported. In addition, the role of Merkel cell polyomavirus is discussed.

  11. Canavan disease - unusual imaging features in a child with mild clinical presentation

    Energy Technology Data Exchange (ETDEWEB)

    Nguyen, Ho V.; Ishak, Gisele E. [University of Washington, Department of Radiology, Seattle Children' s Hospital, Seattle, WA (United States)

    2015-03-01

    Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features. This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement. (orig.)

  12. Canavan disease - unusual imaging features in a child with mild clinical presentation.

    Science.gov (United States)

    Nguyen, Ho V; Ishak, Gisele E

    2015-03-01

    Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features. This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement.

  13. Pulmonary Mycobacterium kansasii infection: comparison of the clinical features, treatment and outcome with pulmonary tuberculosis.

    OpenAIRE

    Evans, S. A.; Colville, A.; Evans, A J; Crisp, A. J.; Johnston, I. D.

    1996-01-01

    BACKGROUND: In the United Kingdom Mycobacterium kansasii is the most common pulmonary non-tuberculous mycobacteria to cause disease in the non-HIV positive population. METHODS: The clinical features, treatment, and outcome of 47 patients (13 women) of mean (SD) age 58 (17) years with culture positive pulmonary M kansasii infection were compared with those of 87 patients (23 women) of mean (SD) age 57 (16) years with culture positive pulmonary M tuberculosis infection by review of their clinic...

  14. Clinical features and early treatment response of central nervous system involvement in childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Levinsen, Mette; Taskinen, Mervi; Abrahamsson, Jonas

    2014-01-01

    BACKGROUND: Central nervous system (CNS) involvement in childhood acute lymphoblastic leukemia (ALL) remains a therapeutic challenge. PROCEDURE: To explore leukemia characteristics of patients with CNS involvement at ALL diagnosis, we analyzed clinical features and early treatment response of 744...... had higher leukocyte count compared with patients with CNS1 (P symptoms....... Symptoms or clinical findings were present among 27 of 54 patients with CNS3 versus only 7 of 39 patients with CNS2 and 15 of 75 patients with TLP+ (P 

  15. Semantic Role Labeling of Clinical Text: Comparing Syntactic Parsers and Features

    OpenAIRE

    Zhang, Yaoyun; Jiang, Min; Wang, Jingqi; Xu, Hua

    2017-01-01

    Semantic role labeling (SRL), which extracts shallow semantic relation representation from different surface textual forms of free text sentences, is important for understanding clinical narratives. Since semantic roles are formed by syntactic constituents in the sentence, an effective parser, as well as an effective syntactic feature set are essential to build a practical SRL system. Our study initiates a formal evaluation and comparison of SRL performance on a clinical text corpus MiPACQ, u...

  16. Sciatica-like symptoms and the sacroiliac joint: clinical features and differential diagnosis

    NARCIS (Netherlands)

    Visser, L.H.; Nijssen, P.G.; Tijssen, C.C.; Middendorp, J.J. van; Schieving, J.H.

    2013-01-01

    PURPOSE: To compare the clinical features of patients with sacroiliac joint (SIJ)-related sciatica-like symptoms to those with sciatica from nerve root compression and to investigate the necessity to perform radiological imaging in patients with sciatica-like symptoms derived from the SIJ. METHODS:

  17. Clinical features and differential diagnosis of type 2 diabetes mellitus in children

    OpenAIRE

    T. L. Kuraeva; I A Dubinina

    2009-01-01

    This review was designed to evaluate prevalence, specific clinical features, and differential diagnosis of type 2 diabetes mellitus (DM2) in children and adolescents. Special emphasis is laid on the importance of immunological and molecular-genetic studies for the verification of diagnosis and active case detection in h groups.

  18. Differential clinical features and stool findings in shigellosis and amoebic dysentery

    NARCIS (Netherlands)

    Speelman, P.; McGlaughlin, R.; Kabir, I.; Butler, T.

    1987-01-01

    To obtain information that could assist the clinician to differentiate between shigellosis and amoebic dysentery, we compared clinical features and stool findings in 58 adult male patients in Bangladesh. Mean values indicated that patients with invasive amoebiasis were older and had a longer

  19. Clinical and microbiological features of HIV-associated tuberculous meningitis in Vietnamese adults

    NARCIS (Netherlands)

    Torok, M. Estee; Chau, Tran Thi Hong; Mai, Pham Phuong; Phong, Nguyen Duy; Dung, Nguyen Thi; Chuong, Ly Van; Lee, Sue J.; Caws, M.; de Jong, Menno D.; Hien, Tran Tinh; Farrar, Jeremy J.

    2008-01-01

    METHODS: The aim of this prospective, observational cohort study was to determine the clinical and microbiological features, outcome, and baseline variables predictive of death, in Vietnamese adults with HIV-associated tuberculous meningitis (TBM). 58 patients were admitted to the Hospital for

  20. The Clinical and Laboratory Features of Plasma Cell NeoplasiaIn ...

    African Journals Online (AJOL)

    OBJECTIVE: To analyze the clinical and laboratory features of Multiple Myeloma at presentation in a tertiary centre in Port Harcourt, Southern Nigeria. METHODS: The medical records of all patients diagnosed for plasma cell neoplasia within a 10 year period at the University of Port Harcourt Teaching Hospital were ...

  1. Clinical features and X-inactivation in females heterozygous for creatine transporter defect

    NARCIS (Netherlands)

    van de Kamp, J. M.; Mancini, G. M. S.; Pouwels, P. J. W.; Betsalel, O. T.; van Dooren, S. J. M.; de Koning, I.; Steenweg, M. E.; Jakobs, C.; van der Knaap, M. S.; Salomons, G. S.

    2011-01-01

    The creatine transporter defect is an X-linked cause of mental retardation. We investigated the clinical features and pattern of X-inactivation in a Dutch cohort of eight female heterozygotes. We show that symptoms of the creatine transporter defect (mental retardation, learning difficulties, and

  2. High-Resolution Anoscopy: Clinical Features of Anal Intraepithelial Neoplasia in HIV-positive Men

    NARCIS (Netherlands)

    Richel, Olivier; Hallensleben, Nora D. L.; Kreuter, Alexander; van Noesel, Carel J. M.; Prins, Jan M.; de Vries, Henry J. C.

    2013-01-01

    BACKGROUND: High-resolution anoscopy is increasingly advocated to screen HIV+ men who have sex with men for anal cancer and its precursor lesions, anal intraepithelial neoplasia. A systematic comparison between clinical features and the histopathology of suspect lesions is lacking. OBJECTIVE: This

  3. Diabetes co-existing with chronic liver disease: Clinical features and ...

    African Journals Online (AJOL)

    Diabetes co-existing with chronic liver disease: Clinical features and response to therapy. EK Chuhwak, SD Pam. Abstract. No Abstract. Nigerian Journal of Medicine Vol. 16 (2) 2007: pp.156-160. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. Article Metrics. Metrics ...

  4. Demographic and clinical features of glutaric acidemia type 1; a high ...

    African Journals Online (AJOL)

    Osama K. Zaki

    2014-02-01

    Feb 1, 2014 ... Demographic and clinical features of glutaric acidemia type. 1; a high frequency among isolates in Upper Egypt. Osama K. Zaki a,. *, Heba Salah Elabd b. , Shaimaa Gad Ragheb b. ,. Dina A. Ghoraba a. , Ahmed Essam Elghawaby a a Ain Shams University Hospital, College of Medicine, Cairo, Egypt.

  5. [Congenital hyperinsulinism in the north-east Netherlands. Clinical features and DNA diagnostics in 22 children

    NARCIS (Netherlands)

    Verheul, J.C.; Ris-Stalpers, C.; Bikker, H.; Bakker-van Waarde, W.M.; Noordam, C.

    2011-01-01

    OBJECTIVE: To describe the clinical features and relevant genetic mutations in 22 children with congenital hyperinsulinism in the north-east Netherlands. DESIGN: Retrospective, descriptive study. METHOD: Children born between June 1988 and June 2009, who were presented at the academic medical

  6. Clinical Features Differ Substantially Between Caucasian and Asian Populations of Marfan Syndrome

    NARCIS (Netherlands)

    Franken, Romy; den Hartog, Alexander W; van de Riet, Liz; Timmermans, Janneke; Scholte, Arthur J; van den Berg, Maarten P; de Waard, Vivian; Zwinderman, Aeilko H; Groenink, Maarten; Yip, James W; Mulder, Barbara J M

    2013-01-01

    Background: Prevention of aortic dissection and sudden death in patients with Marfan syndrome (MFS) requires accurate diagnosis. MFS is diagnosed by the Ghent criteria, which are primarily based on clinical features of Caucasian MFS populations. We determined whether the Ghent criteria apply to

  7. Clinical features differ substantially between caucasian and asian populations of marfan syndrome

    NARCIS (Netherlands)

    Franken, R.; Hartog, A.W. den; Riet, L. te; Timmermans, J.; Scholte, A.J.; Berg, M.P van den; Waard, V. de; Zwinderman, A.H.; Groenink, M.; Yip, J.W.; Mulder, B.J.

    2013-01-01

    Background: Prevention of aortic dissection and sudden death in patients with Marfan syndrome (MFS) requires accurate diagnosis. MFS is diagnosed by the Ghent criteria, which are primarily based on clinical features of Caucasian MFS populations. We determined whether the Ghent criteria apply to

  8. Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome

    Directory of Open Access Journals (Sweden)

    Hisham Megahed

    2015-03-01

    Conclusions: Mutation screening for MECP2 is a fast and reliable method to diagnose patients clinically suspected to suffer from Rett syndrome or female patients with atypical Rett syndrome features, mental retardation, developmental delay and other neurological abnormalities who do not fit any specific diagnosis. Also, patients with MECP2 mutation presented with a more severe phenotype.

  9. Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

    Directory of Open Access Journals (Sweden)

    Al-Otaibi Faisal

    2012-05-01

    Full Text Available Abstract Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management.

  10. Eccrine Porocarcinoma: Patient Characteristics, Clinical and Histopathologic Features, and Treatment in 7 Cases.

    Science.gov (United States)

    Gómez-Zubiaur, A; Medina-Montalvo, S; Vélez-Velázquez, M D; Polo-Rodríguez, I

    2017-05-01

    Eccrine porocarcinoma is a rare, malignant cutaneous adnexal tumor that arises from the ducts of sweat glands. Found mainly in patients of advanced age, this tumor has diverse clinical presentations. Histology confirms the diagnosis, detects features relevant to prognosis, and guides treatment. Growth is slow, but the prognosis is poor if the tumor metastasizes to lymph nodes or visceral organs. We report 7 cases of eccrine porocarcinoma, describing patient characteristics, the clinical and histopathologic features of the tumors, and treatments used. Our observations were similar to those of other published case series. Given the lack of therapeutic algorithms or protocols for this carcinoma, we propose a decision-making schema based on our review of the literature and our experience with this case series. The algorithm centers on sentinel lymph node biopsy and histologic features. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. [Study on computed tomography features of nasal septum cellule and its clinical significance].

    Science.gov (United States)

    Huang, Dingqiang; Li, Wanrong; Gao, Liming; Xu, Guanqiang; Ou, Xiaoyi; Tang, Guangcai

    2008-03-01

    To investigate the features of nasal septum cellule in computed tomographic (CT) images and its clinical significance. CT scans data of nasal septum in 173 patients were randomly obtained from January 2001 to June 2005. Prevalence and clinical features were summarized in the data of 19 patients with nasal septum cellule retrospectively. (1) Nineteen cases with nasal septum cellule were found in 173 patients. (2) All nasal septum cellule of 19 cases located in perpendicular plate of the ethmoid bone, in which 8 cases located in upper part of nasal septum and 11 located in middle. (3) There were totally seven patients with nasal diseases related to nasal septum cellule, in which 3 cases with inflammation, 2 cases with bone fracture, 1 case with cholesterol granuloma, 1 case with mucocele. Nasal septum cellule is an anatomic variation of nasal septum bone, and its features can provide further understanding of some diseases related to nasal septum cellule.

  12. Brucellosis in Kosovo and Clinical Features of Brucellosis at University clinical center of Kosovo

    Directory of Open Access Journals (Sweden)

    Emine Qehaja Buçaj

    2015-12-01

    Full Text Available Objective: Brucellosis became a remarkable disease in Kosovo. But there is not a comprehensive epidemiological study about epidemiology and clinical course of this disease from Kosovo. The aim of our study is to present demographic and clinical data of patients with brucellosis at University Clinical Center of Kosovo. Methods: A retrospective study was performed for the patients with brucellosis treated in our clinic during years 2011- 2012. The data about demography, history of the disease, clinical presentations, serological test, serum biochemistry and reatment were collected from hospital medical records. The diagnosis of brucellosis based on clinical and laboratory findings. Results: This descriptive study included 47 patients, who 33 of them (70.2% were males. The mean age was 37.9 ± 19.3 years. The route of transmission of the disease was known in 28 59.5% of them. Direct contact with livestock in 22 (46.8% and ingestion of dairy products in six cases (12.7% were reported as the transmission route. The majority of patients (27 patients, 57.4% were from rural area. The main presenting symptoms were atigue, fever and arthralgia. Osteoarticular manifestations were the common forms of localized disease. Regarding to the therapy, 45 (95.7% of patients were treated with streptomycin and doxycycline for the first three weeks. Conclusion: Human brucellosis is not a common in Kosovo but there is a potential risk. Osteoarticular symptoms were the most common presentation reasons. The most effective and preferred treatment regimen was Streptomycin plus Doxycycline for the first three weeks, and Doxycycline plus Rifampicin thereafter. J Microbiol Infect Dis 2015;5(4: 147-150

  13. ANALYSIS OF CLINICAL AND DERMOSCOPIC FEATURES FOR BASAL CELL CARCINOMA NEURAL NETWORK CLASSIFICATION

    Science.gov (United States)

    Cheng, Beibei; Stanley, R. Joe; Stoecker, William V; Stricklin, Sherea M.; Hinton, Kristen A.; Nguyen, Thanh K.; Rader, Ryan K.; Rabinovitz, Harold S.; Oliviero, Margaret; Moss, Randy H.

    2012-01-01

    Background Basal cell carcinoma (BCC) is the most commonly diagnosed cancer in the United States. In this research, we examine four different feature categories used for diagnostic decisions, including patient personal profile (patient age, gender, etc.), general exam (lesion size and location), common dermoscopic (blue-gray ovoids, leaf-structure dirt trails, etc.), and specific dermoscopic lesion (white/pink areas, semitranslucency, etc.). Specific dermoscopic features are more restricted versions of the common dermoscopic features. Methods Combinations of the four feature categories are analyzed over a data set of 700 lesions, with 350 BCCs and 350 benign lesions, for lesion discrimination using neural network-based techniques, including Evolving Artificial Neural Networks and Evolving Artificial Neural Network Ensembles. Results Experiment results based on ten-fold cross validation for training and testing the different neural network-based techniques yielded an area under the receiver operating characteristic curve as high as 0.981 when all features were combined. The common dermoscopic lesion features generally yielded higher discrimination results than other individual feature categories. Conclusions Experimental results show that combining clinical and image information provides enhanced lesion discrimination capability over either information source separately. This research highlights the potential of data fusion as a model for the diagnostic process. PMID:22724561

  14. Hairy cell leukemia: Uncommon clinical features, unusual sites of involvement and some rare associations.

    Science.gov (United States)

    Tadmor, Tamar; Polliack, Aaron

    2015-12-01

    Unusual clinical manifestations and associations with auto-immunity or other systemic disorders are uncommon clinical features of hairy cell leukemia (HCL). The exact prevalence of these rare associations is difficult to determine as they are mostly published as anecdotal case reports and generally not included in larger published series. This chapter deals with uncommon clinical manifestations and rare sites of involvement in HCL. It also summarizes the association with systemic hemato-oncological disorders as well as second malignancies, based on review of the relevant literature and from personal experience. Copyright © 2015 Elsevier Ltd. All rights reserved.

  15. Clinical Laboratory and Epidemiological Features of Sudden Exanthema in Children Saint-Petersburg

    OpenAIRE

    E. V. Sharipova; I. V. Babachenko; Yu. I. Sichkovskaja; Yu. Yu. Chernyshova

    2016-01-01

    The paper studies the clinical and epidemiological features of one of the acute clinical forms of infection caused by the human herpes virus type 6 — «sudden exanthema » — in children of St. Petersburg. The study involved 149 children hospitalized aged 6 months to 15 years in the period from 2012 to 2014. Sudden rash confirmed by molecular genetic studies in 38 children. The disease is mainly observed in patients of the first two years of life. Rash and toxic syndromes dominated in clinical p...

  16. Clinical Laboratory and Epidemiological Features of Sudden Exanthema in Children Saint-Petersburg

    Directory of Open Access Journals (Sweden)

    E. V. Sharipova

    2016-01-01

    Full Text Available The paper studies the clinical and epidemiological features of one of the acute clinical forms of infection caused by the human herpes virus type 6 — «sudden exanthema » — in children of St. Petersburg. The study involved 149 children hospitalized aged 6 months to 15 years in the period from 2012 to 2014. Sudden rash confirmed by molecular genetic studies in 38 children. The disease is mainly observed in patients of the first two years of life. Rash and toxic syndromes dominated in clinical picture.

  17. 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

    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...

  18. Postorgasmic Illness Syndrome (POIS) in 45 Dutch Caucasian Males: Clinical Characteristics and Evidence for an Immunogenic Pathogenesis (Part 1)

    NARCIS (Netherlands)

    Waldinger, Marcel D.; Meinardi, Marcus M. H. M.; Zwinderman, Aeilko H.; Schweitzer, Dave H.

    2011-01-01

    Introduction. Postorgasmic illness syndrome (POIS) is a combination of local allergic symptoms and transient flu-like illness. In this study, the investigators propose five preliminary criteria to establish the diagnosis. Aim. To describe the clinical details in 45 males being suspected of having

  19. Histological and clinical features of primary and recurrent periocular Basal cell carcinoma.

    Science.gov (United States)

    Ben Simon, Guy J; Lukovetsky, Semion; Lavinsky, Fabio; Rosen, Nahum; Rosner, Mordechai

    2012-01-01

    Background. Basal cell carcinoma (BCC) is the most common malignancy of the eyelids. Medial canthal BCCs tends to recur more often. Purpose. To evaluate the clinical and histological features of primary and recurrent periocular BCC, in order to identify any existing associations. Methods. Data from 87 patients (71 primary and 16 recurrent) were analyzed in this study. All patients underwent tumor excision with frozen section margin control at the Goldschleger Eye Institute between 1/1995 to 12/1997. Statistical analysis was performed to identify possible associations between histological and clinical characteristics of primary and recurrent BCC. Main Outcome Measures. Anatomical location, clinical presentation, and histology of peri-ocular BCC. Results. No association was found between histopathological and clinical characteristics of BCC. Similar features with regard to eyelid location and histology were found in primary and recurrent peri-ocular BCCs, whereas recurrent BCCs tended to involve a greater eyelid extent with a longer duration of symptoms. Medial canthal BCCs, morpheaform, or sclerosing histology were not more common in the recurrent BCC group. Conclusions. Similar clinical and histological characteristics were noted in primary and recurrent periocular BCC, implying that incomplete surgical excision rather than anatomical location or histological features is the main cause for recurrence.

  20. Clinical and radiological features of recurrent demyelination following acute disseminated encephalomyelitis (ADEM).

    Science.gov (United States)

    Kariyawasam, Sanduni; Singh, Rahul R; Gadian, Jonathan; Lumsden, Daniel E; Lin, Jean-Pierre; Siddiqui, Ata; Hacohen, Yael; Absoud, Michael; Lim, Ming

    2015-09-01

    To identify clinical and radiological features of children that relapse following an initial presentation of acute disseminated encephalomyelitis (ADEM). Clinical records and neuroimaging of children under the age of 16 years presenting with ADEM to a pediatric neurology referral center between 2006 and 2010 were evaluated. Of the 32 children with ADEM, 24 (7 female) with a median age of 4.8 (range 3-15) had a monophasic course. Eight patients (25%; 4 female) with median age of 6.9 (range 3-16) had relapsing demyelination; 3 relapsing within the 3 month interval (still defined within a monophasic event); 4 with multiphasic disseminated encephalomyelitis (MDEM), and 1 with non-multiple sclerosis recurrent demyelination. Clinical features at presentation could not distinguish the monophasic from the relapsing group. Infratentorial imaging changes (brain stem and cerebellar) were seen more frequently in the relapsing group (8/8 vs. 20/24), although differences were not statistically significant. At relapse, seven of the eight patients had clinical and radiologic infratentorial syndromes involving brainstem and/or cerebellum. Only one patient had more than one relapse. After a median follow up of 27 months (range 0-96) across the whole group, no patients were diagnosed with multiple sclerosis. ADEM patients with infratentorial demyelination are more likely to present with a second infratentorial demyelination, although clinical and radiological features at outset could not predict the relapsing cohort. Copyright © 2015 Elsevier B.V. All rights reserved.

  1. Clinical, dermoscopic and histopathological features of melanocytic nevi in dystrophic epidermolysis bullosa.

    Science.gov (United States)

    Fernandes, Juliana Dumêt; Rivitti-Machado, Maria Cecilia; Nakano, Juliana; de Oliveira Rocha, Bruno; Oliveira, Zilda Najjar P

    2014-03-01

    Epidermolysis bullosa (EB) nevi are acquired pigmented melanocytic lesions which may have clinical and dermoscopic features quite similar to those found in melanoma. More detailed information on this phenomenon is still lacking. To evaluate clinical, dermoscopic, and histopathological features of melanocytic lesions in 13 patients with dystrophic EB (DEB). Patients underwent clinical and dermoscopic evaluation. Suspicious lesions were excised and examined microscopically. There were 12 cases of recessive DEB and one of dominant DEB. Five patients were men; 8 were women; the ages ranged from 2 to 27 years old. All patients had at least 2 atypical melanocytic lesions. Two of the 5 biopsied patients showed an atypical nevus or lentigo on histopathological examination. We observed a high incidence of large and atypical melanocytic lesions in DEB patients. Although the exact explanation for this is still unclear, it seems that re-epithelization and the chronic inflammatory process may stimulate the proliferation of melanocytes, as well as the emergence of lesions with atypical clinical and dermoscopic features. As an unequivocal discrimination from malignant melanoma in vivo is not always possible, regular clinical follow-up and histopathological evaluation of suspicious lesions in EB patients are mandatory. © 2014 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.

  2. Heterogeneity of the clinical manifestations and pathology features in C3 glomerulopathy

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    Jin-quan WANG

    2015-01-01

    Full Text Available C3 glomerulopathy is a kind of glomerular diseases mediated by abnormal activation of alternative complement pathway. As diversity and multiplicity of pathogenic mechanism, heterogeneity exists in the clinical manifestation and pathological features of C3 glomerulopathy. The clinical manifestation of the disease may be shown as abnormality in urine, hypertension, hematuria, nephrotic syndrome, nephritic syndrome, renal insufficiency, etc. Membranoproliferative glomerulonephritis, mesangial proliferation, crescent formation, focal segmental necrosis, diffuse hyperplasia and exudative lesions, etc may be found in renal biopsies. Also, the prognosis of C3 glomerulopathy is not uniform. The clinical manifestations and pathological features of C3 glomerulopathy were reviewed in the present paper. DOI: 10.11855/j.issn.0577-7402.2014.12.15

  3. Thrombocytopenia in pregnancy with different diagnoses: Differential clinical features, treatments, and outcomes.

    Science.gov (United States)

    Wang, Xiaoyue; Xu, Yan; Luo, Wenxiang; Feng, Hui; Luo, Yizhou; Wang, Yanli; Liao, Hui

    2017-07-01

    To investigate the clinical features and perinatal treatment of thrombocytopenia induced by different causes during pregnancy.Clinical data from 195 pregnant women with thrombocytopenia attending 2 tertiary hospitals from January 2014 to October 2016 were retrospectively studied. The obtained data were analyzed with SPSS 19.0 software.There were 117 (60.0%), 55 (28.2%), and 23 cases (11.8%) of pregnancy-associated thrombocytopenia (PAT), idiopathic thrombocytopenia (ITP), and hypertensive disorder in pregnancy (PIH), respectively. The percentage of nulliparous women, gestational age at delivery, date of diagnosis of thrombocytopenia, and delivery mode significantly differed between the patients in these 3 groups (P thrombocytopenia in pregnancy are diverse, and the clinical features vary widely. Timely analysis is needed to determine the primary cause of thrombocytopenia, and appropriate therapy should then be selected to effectively improve the prognosis of pregnancies.

  4. Molecular pathogenesis of intrahepatic cholangiocarcinoma

    DEFF Research Database (Denmark)

    Andersen, Jesper Bøje

    2014-01-01

    Cholangiocarcinoma (CCA) is an orphan cancer of the hepatobiliary tract, the incidence of which has increased in the past decade. The molecular pathogenesis of this treatment-refractory disease is poorly understood. Desmoplasia is a key causal feature of CCA; however, a majority of tumors develop...

  5. From normal response to clinical problem: definition and clinical features of fear of cancer recurrence.

    Science.gov (United States)

    Lebel, Sophie; Ozakinci, Gozde; Humphris, Gerald; Mutsaers, Brittany; Thewes, Belinda; Prins, Judith; Dinkel, Andreas; Butow, Phyllis

    2016-08-01

    Research to date on fear of cancer recurrence (FCR) shows that moderate to high FCR affects 22-87 % of cancer survivors and is associated with higher psychological morbidity (Simard et al J Cancer Surviv 7:300-322, 2013). Despite growing research interest in FCR, the lack of consensus on its definition and characteristics when it reaches a clinical level has impeded knowledge transfer into patient services. In order to address these gaps, expert researchers, policy makers, trainees, and patient advocates attended a 2-day colloquium at the University of Ottawa in August 2015. A Delphi method was used to identify the most relevant definition of FCR, and the attendees generated possible diagnostic characteristics of clinical FCR. After three rounds of discussion and voting, the attendees reached consensus on a new definition of FCR: "Fear, worry, or concern relating to the possibility that cancer will come back or progress." Regarding clinical FCR, five possible characteristics were proposed: (1) high levels of preoccupation, worry, rumination, or intrusive thoughts; (2) maladaptive coping; (3) functional impairments; (4) excessive distress; and (5) difficulties making plans for the future. The new proposed definition of FCR reflects the broad spectrum in which patients experience FCR. A consensual definition of FCR and the identification of the essential characteristics of clinical FCR are necessary to accurately and consistently measure FCR severity and to develop effective interventions to treat FCR. We hope this broad definition can encourage further research and the development of inclusive policies for all cancer patients and survivors who are struggling with this issue.

  6. Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region

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    Nurgul Ceran

    Full Text Available Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, sagittal sinus thrombosis in one case, spinal arachnoiditis in one case, intracranial vasculitis in one case, in addition to meningitis in all cases. Eleven patients were male and seven were female. The most prevalent symptoms were headache (83% and fever (44%. All patients were treated with rifampicin, doxycycline plus trimethoprim-sulfamethoxazole or ceftriaxone. Duration of treatment (varied 3-12 months was determined on basis of the CSF response. In four patients presented with left mild sequelae including aphasia, hearing loss, hemiparesis. In conclusion, although mortality is rare in neurobrucellosis, its sequelae are significant. In neurobrucellosis various clinical and neuroradiologic signs and symptoms can be confused with other neurologic diseases. In inhabitants or visitors of endemic areas, neurobrucellosis should be kept in mind in cases that have unusual neurological manifestations.

  7. Polyarteritis nodosa presenting with clinical and radiologic features suggestive of polymyositis.

    LENUS (Irish Health Repository)

    Haroon, Muhammad

    2011-02-18

    We report a patient who presented with clinical and MRI findings suggestive of polymyositis but, in whom, muscle biopsy disclosed a strikingly different diagnosis. A 65-year-old woman presented with 3-week history of bilateral proximal muscle pain and weakness. Laboratory investigations showed markedly elevated inflammatory markers and mildly elevated muscle enzymes. MRI scans of lower limbs showed features suggestive of polymyositis. However, muscle biopsy showed features of a polyarteritis-type vasculitis affecting an intramuscular blood vessel. Our reports highlight the critical role of muscle biopsy in establishing the correct diagnosis in patients with suspected myositis.

  8. Distinguishing clinical and imaging features of nodular regenerative hyperplasia and large regenerative nodules of the liver

    Energy Technology Data Exchange (ETDEWEB)

    Ames, J.T. [Departments of Radiology, University of Pittsburgh Medical Center Pittsburgh, Pennsylvania (United States); Federle, M.P., E-mail: federle@stanford.ed [Departments of Radiology, University of Pittsburgh Medical Center Pittsburgh, Pennsylvania (United States); Chopra, K. [Departments of Gastroenterology, University of Pittsburgh Medical Center Pittsburgh, Pennsylvania (United States)

    2009-12-15

    Aim: Nodular regenerative hyperplasia (NRH) and large regenerative nodules (LRN) are distinct types of hepatocellular nodules that have been confused in the radiology literature. However, distinction is critical because their clinical significance is quite different. Our purpose was to review the clinical and imaging findings in a series of patients with NRH and LRN in order to identify distinguishing clinical and imaging features. Materials and methods: This was a retrospective case series. The clinical and imaging features were compared in 36 patients with pathological proof of NRH and 23 patients with pathological evidence of LRN. Results: NRH and LRN have different predisposing factors and imaging findings. NRH is often associated with organ transplantation, myeloproliferative disease, or autoimmune processes. Livers with NRH typically do not have enhancing nodules; none of the present patients with NRH had enhancing liver masses. In contrast, LRN are often associated with Budd-Chiari syndrome. Enhancing liver masses were noted in 19 (83%) of the 23 patients with LRN. The p values for the comparisons were less than 0.001 for both enhancing liver masses and hepatic vein thrombosis. Conclusion: NRH and LRN can have distinct clinical presentations and imaging appearances. LRN often result in enhancing liver nodules, whereas NRH usually does not. Clinical and imaging information enables the distinction of LRN and NRH in many cases.

  9. The impact of educational status on the clinical features of major depressive disorder among Chinese women

    Science.gov (United States)

    Gan, Zhaoyu; Li, Yihan; Xie, Dong; Shao, Chunhong; Yang, Fuzhong; Shen, Yuan; Zhang, Ning; Zhang, Guanghua; Tian, Tian; Yin, Aihua; Chen, Ce; Liu, Jun; Tang, Chunling; Zhang, Zhuoqiu; Liu, Jia; Sang, Wenhua; Wang, Xumei; Liu, Tiebang; Wei, Qinling; Xu, Yong; Sun, Ling; Wang, Sisi; Li, Chang; Hu, Chunmei; Cui, Yanping; Liu, Ying; Li, Ying; Zhao, Xiaochuan; Zhang, Lan; Sun, Lixin; Chen, Yunchun; Zhang, Yueying; Ning, Yuping; Shi, Shenxun; Chen, Yiping; Kendler, Kenneth S.; Flint, Jonathan; Zhang, Jinbei

    2012-01-01

    Background Years of education are inversely related to the prevalence of major depressive disorder (MDD), but the relationship between the clinical features of MDD and educational status is poorly understood. We investigated this in 1970 Chinese women with recurrent MDD identified in a clinical setting. Methods Clinical and demographic features were obtained from 1970 Han Chinese women with DSM-IV major depression between 30 and 60 years of age across China. Analysis of linear, logistic and multiple logistic regression models were used to determine the association between educational level and clinical features of MDD. Results Subjects with more years of education are more likely to have MDD, with an odds ratio of 1.14 for those with more than ten years. Low educational status is not associated with an increase in the number of episodes, nor with increased rates of co-morbidity with anxiety disorders. Education impacts differentially on the symptoms of depression: lower educational attainment is associated with more biological symptoms and increased suicidal ideation and plans to commit suicide. Limitations Findings may not generalize to males or to other patient populations. Since the threshold for treatment seeking differs as a function of education there may an ascertainment bias in the sample. Conclusions The relationship between symptoms of MDD and educational status in Chinese women is unexpectedly complex. Our findings are inconsistent with the simple hypothesis from European and US reports that low levels of educational attainment increase the risk and severity of MDD. PMID:21824664

  10. The impact of educational status on the clinical features of major depressive disorder among Chinese women.

    Science.gov (United States)

    Gan, Zhaoyu; Li, Yihan; Xie, Dong; Shao, Chunhong; Yang, Fuzhong; Shen, Yuan; Zhang, Ning; Zhang, Guanghua; Tian, Tian; Yin, Aihua; Chen, Ce; Liu, Jun; Tang, Chunling; Zhang, Zhuoqiu; Liu, Jia; Sang, Wenhua; Wang, Xumei; Liu, Tiebang; Wei, Qinling; Xu, Yong; Sun, Ling; Wang, Sisi; Li, Chang; Hu, Chunmei; Cui, Yanping; Liu, Ying; Li, Ying; Zhao, Xiaochuan; Zhang, Lan; Sun, Lixin; Chen, Yunchun; Zhang, Yueying; Ning, Yuping; Shi, Shenxun; Chen, Yiping; Kendler, Kenneth S; Flint, Jonathan; Zhang, Jinbei

    2012-02-01

    Years of education are inversely related to the prevalence of major depressive disorder (MDD), but the relationship between the clinical features of MDD and educational status is poorly understood. We investigated this in 1970 Chinese women with recurrent MDD identified in a clinical setting. Clinical and demographic features were obtained from 1970 Han Chinese women with DSM-IV major depression between 30 and 60 years of age across China. Analysis of linear, logistic and multiple logistic regression models were used to determine the association between educational level and clinical features of MDD. Subjects with more years of education are more likely to have MDD, with an odds ratio of 1.14 for those with more than ten years. Low educational status is not associated with an increase in the number of episodes, nor with increased rates of co-morbidity with anxiety disorders. Education impacts differentially on the symptoms of depression: lower educational attainment is associated with more biological symptoms and increased suicidal ideation and plans to commit suicide. Findings may not generalize to males or to other patient populations. Since the threshold for treatment seeking differs as a function of education there may an ascertainment bias in the sample. The relationship between symptoms of MDD and educational status in Chinese women is unexpectedly complex. Our findings are inconsistent with the simple hypothesis from European and US reports that low levels of educational attainment increase the risk and severity of MDD. Copyright © 2011 Elsevier B.V. All rights reserved.

  11. Angioimmunoblastic T-Cell lymphoma: A critical analysis of clinical, morphologic and immunophenotypic features

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    Bal Munita

    2010-10-01

    Full Text Available Background: Angioimmunoblastic T-cell lymphoma (AITL, a subtype of peripheral T-cell lymphoma (PTCL, is characterized by unique clinical and biological features. Its diagnosis remains a challenge as clinical presentation as well as pathologic findings are frequently misleading. Material and Methods: We retrospectively analyzed the clinical, morphological and immunophenotypic spectrum of 17 cases of histologically proven AITL. Result: The mean age was 54 years and male to female ratio was 2.4. Common clinical features included generalized lymphadenopathy (60%, hepatomegaly (70%, splenomegaly (50%, anemia (80% and polyclonal hypergammaglobulinemia (100%. Microscopically, three architectural patterns; pattern I (6%, pattern II (41% and pattern III (53% were observed. Bone marrow infiltration was seen in 60% cases and 30% cases revealed plasmacytosis. Absence of follicles, polymorphous infiltrate, extra-follicular follicular dendritic cell (FDC proliferation, high endothelial venules (HEV prominence and neoplastic T-cells were the diagnostic features of AITL. CD10 positivity (47%, clear cells in the background (59% admixture with large size CD20+ B-immunoblasts (35% and bone marrow plasmacytosis (50% were common observations. Conclusion: Awareness of various morphological and immunophenotypic complexities of AITL and distinction from reactive adenopathies and other types of lymphomas that mimic AITL is underscored in this study.

  12. 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...

  13. Exploring the relationship between personality features and teaching self-efficacy in clinical nursing preceptors.

    Science.gov (United States)

    Li, Ai-Tzu; Su, Yu-Wen

    2014-09-01

    The clinical nursing preceptor system, first introduced in the 1960s, is a one-on-one education and practice model. Preceptorship programs assign experienced registered nurses (preceptors) as mentors or role models for new clinical nurses (preceptees). The objective of this study was to delineate the relationship between personality features and teaching self-efficacy in clinical nursing preceptors. In June 2009, clinical nursing preceptors at a county hospital in Taiwan were asked to complete three questionnaires, including (a) background demographics, (b) Eysenck Personality Questionnaire, and (c) the teaching self-efficacy evaluation. A generalized linear model was applied to determine the associations between the six dimensions of teaching self-efficacy (maturity, teaching self-efficacy beliefs, professional skill, teaching strategy effectiveness, quality of interpersonal relationships, and objective teaching evaluation) and four dimensions related to personality features (extraversion, neuroticism, psychoticism, and the lie scale), adjusted for baseline characteristics. One hundred sixteen nurse preceptors (mean age = 31.2 years, range = 25-54 years) participated in this survey. Analysis showed that extraversion was related to higher scores for maturity, teaching self-efficacy beliefs, professional skill, teaching strategy effectiveness, and objective teaching evaluation. A higher neuroticism score was negatively associated with maturity. The psychoticism score had no significant associations. A higher score on the lie scale was related to lower professional skill and less teaching strategy effectiveness. Personality features relate significantly to teaching self-efficacy in nursing preceptors. This study identified personality features that may influence the success of nurses in becoming competent clinical preceptors.

  14. The Assessment of Patient Clinical Outcome: Advantages, Models, Features of an Ideal Model

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    Mou’ath Hourani

    2016-06-01

    Full Text Available Background: The assessment of patient clinical outcome focuses on measuring various aspects of the health status of a patient who is under healthcare intervention. Patient clinical outcome assessment is a very significant process in the clinical field as it allows health care professionals to better understand the effectiveness of their health care programs and thus for enhancing the health care quality in general. It is thus vital that a high quality, informative review of current issues regarding the assessment of patient clinical outcome should be conducted. Aims & Objectives: 1 Summarizes the advantages of the assessment of patient clinical outcome; 2 reviews some of the existing patient clinical outcome assessment models namely: Simulation, Markov, Bayesian belief networks, Bayesian statistics and Conventional statistics, and Kaplan-Meier analysis models; and 3 demonstrates the desired features that should be fulfilled by a well-established ideal patient clinical outcome assessment model. Material & Methods: An integrative review of the literature has been performed using the Google Scholar to explore the field of patient clinical outcome assessment. Conclusion: This paper will directly support researchers, clinicians and health care professionals in their understanding of developments in the domain of the assessment of patient clinical outcome, thus enabling them to propose ideal assessment models.

  15. Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

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    Jennifer L. Roberts

    2014-01-01

    Full Text Available Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3 cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400 K array-based comparative genomic hybridization (aCGH + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband’s phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient’s unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations.

  16. Clinical features of diffuse large B-cell lymphoma with polyploidy.

    Science.gov (United States)

    Shimono, Joji; Miyoshi, Hiroaki; Seto, Masao; Teshima, Takanori; Ohshima, Koichi

    2017-01-01

    Polyploidy, defined as more than two sets of homologous chromosomes, is found in a variety of malignant tumors and is thought to be related to disease pathogenesis. However, there have been no studies that have investigated polyploidy in diffuse large B-cell lymphoma (DLBCL). Here we reviewed clinicopathological features of 16 cases of DLBCL with polypoidy, which was defined as DLBCL with either near-tetraploid or greater number of chromosomes as detected by the G-band method. The frequency of polyploid DLBCL was 2.9 % (16/544), including 15 near-tetraploid and one near-pentaploid case. CD5, CD30 and EBER positive cases were 13 % (2/16), 13 % (2/16) and 6 % (1/16), respectively. Bcl2 positive cases were 75 % (12/16). The numbers of huge and multinucleated cells were higher in polyploid than in non-polyploid DLBCL (P = 0.0029 and P DLBCL included reduced infiltration of extranodal sites (2/15, 13 %) and major lymph node infiltration. Of seven cases that received chemotherapy, six responded to treatment and survived. Our results suggest that polyploid DLBCL represents a clinicopathologically characteristic group of DLBCL. This knowledge can be useful for informing more personalized and targeted management of DLBCL patients. © 2016 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

  17. Socio-demographic, Clinical and Laboratory Features of Rotavirus Gastroenteritis in Children Treated in Pediatric Clinic

    Science.gov (United States)

    Azemi, Mehmedali; Berisha, Majlinda; Ismaili-Jaha, Vlora; Kolgeci, Selim; Avdiu, Muharrem; Jakupi, Xhevat; Hoxha, Rina; Hoxha-Kamberi, Teuta

    2013-01-01

    Aim: The aim of work was presentation of several socio-demographic, clinical and laboratory characteristics of gastroenteritis caused by rotavirus. The examinees and methods: The examinees were children under the age of five years treated at the Pediatric Clinic due to acute gastroenteritis caused by rotavirus. Rotavirus is isolated by method chromatographic immunoassay by Cer Test Biotec. Results: From the total number of patients (850) suffering from acute gastroenteritis, feces test on bacteria, viruses. protozoa and fungi was positive in 425 (49.76%) cases. From this number the test on bacteria was positive in 248 (58.62%) cases, on viruses it was positive in 165 (39.0%), on protozoa in 9 (2.12%) cases and on fungi only one case. Rotavirus was the most frequent one in viral test, it was isolated in 142 (86.06%) cases, adenoviruses were found in 9 (5.45%) cases and noroviruses in only one case. The same feces sample that contained rotavirus and adenoviruses were isolated in five cases, whereas rotavirus with bacteria was isolated in the same feces sample in five cases. The biggest number of cases 62 (43.66%) were of the age 6-12 months, whereas the smallest number 10 (7.04%) cases were of the age 37-60 months. There were 76 (53.52%) of cases of male gender, from rural areas there were 81 (57.04%) cases and there were 58 (40.80%) cases during the summer period. Among the clinical symptoms the most prominent were diarrhea, vomiting, high temperature, whereas the different degree of dehydration were present in all cases (the most common one was moderate dehydration). The most frequent one was isonatremic dehydration in 91 (64.08%) cases, less frequent one was hypernatremic dehydration in 14 (9.85%) cases. The majority of cases (97.89%) had lower blood pH values, whereas 67 (47.17%) cases had pH values that varied from 7.16 -7.20 (curve peak), normal values were registered in only 3 (2.11%) cases. Urea values were increased in 45 (31.07%) cases (the maximum value

  18. Cranial dystonia, blepharospasm and hemifacial spasm: clinical features and treatment, including the use of botulinum toxin.

    Science.gov (United States)

    Kraft, S P; Lang, A E

    1988-01-01

    Blepharospasm, the most frequent feature of cranial dystonia, and hemifacial spasm are two involuntary movement disorders that affect facial muscles. The cause of blepharospasm and other forms of cranial dystonia is not known. Hemifacial spasm is usually due to compression of the seventh cranial nerve at its exit from the brain stem. Cranial dystonia may result in severe disability. Hemifacial spasm tends to be much less disabling but may cause considerable distress and embarrassment. Patients affected with these disorders are often mistakenly considered to have psychiatric problems. Although the two disorders are quite distinct pathophysiologically, therapy with botulinum toxin has proven very effective in both. We review the clinical features, proposed pathophysiologic features, differential diagnosis and treatment, including the use of botulinum toxin, of cranial dystonia and hemifacial spasm. Images Fig. 2 Fig. 3 PMID:3052771

  19. Effective feature selection of clinical and genetic to predict warfarin dose using artificial neural network

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    Mohammad Karim Sohrabi

    2016-03-01

    Full Text Available Background: Warfarin is one of the most common oral anticoagulant, which role is to prevent the clots. The dose of this medicine is very important because changes can be dangerous for patients. Diagnosis is difficult for physicians because increase and decrease in use of warfarin is so dangerous for patients. Identifying the clinical and genetic features involved in determining dose could be useful to predict using data mining techniques. The aim of this paper is to provide a convenient way to select the clinical and genetic features to determine the dose of warfarin using artificial neural networks (ANN and evaluate it in order to predict the dose patients. Methods: This experimental study, was investigate from April to May 2014 on 552 patients in Tehran Heart Center Hospital (THC candidates for warfarin anticoagulant therapy within the international normalized ratio (INR therapeutic target. Factors affecting the dose include clinical characteristics and genetic extracted, and different methods of feature selection based on genetic algorithm and particle swarm optimization (PSO and evaluation function neural networks in MATLAB (MathWorks, MA, USA, were performed. Results: Between algorithms used, particle swarm optimization algorithm accuracy was more appropriate, for the mean square error (MSE, root mean square error (RMSE and mean absolute error (MAE were 0.0262, 0.1621 and 0.1164, respectively. Conclusion: In this article, the most important characteristics were identified using methods of feature selection and the stable dose had been predicted based on artificial neural networks. The output is acceptable and with less features, it is possible to achieve the prediction warfarin dose accurately. Since the prescribed dose for the patients is important, the output of the obtained model can be used as a decision support system.

  20. CLINICAL FEATURES AND SIGNIFICANCE OF CYTOKINE IL-4 IN CHILDREN WITH DENGUE AT A TERTIARY CARE CENTRE

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    Rakesh Manoharan

    2016-12-01

    Full Text Available BACKGROUND Dengue is a mosquito borne viral infection in tropical and subtropical regions caused by one of the four serotypes of dengue viruses (DENV1-DENV4. The consequences of DENV infection range from asymptomatic condition Dengue Fever (DF or severe forms such as Dengue Haemorrhagic Fever (DHF and Dengue Shock Syndrome (DSS. The host immune responses have been considered as the major factor responsible for dengue pathogenesis. Endothelial activation markers such as expression of adhesion molecules and receptors have been found to serve as biomarkers of severe dengue disease. In this study, the cytokine IL-4 is reviewed for its utility as potential biomarker of severe dengue disease. MATERIALS AND METHODS 120 children of paediatric age group from 1 month till 18 years of age with fever for more than 5 days with either dengue NS1 antigen or dengue IgM positive were included. 30 children who were admitted for noninfectious disease (e.g. surgery without fever, any systemic illness and preexisting illness (tuberculosis, asthma in SRMC and RI were taken as controls. Cases were classified as uncomplicated dengue (dengue without warning signs and complicated dengue (dengue with warning signs and severe dengue. Clinical features and IL-4 (ELISA kit were analysed and compared among the study population and statistical analysis done for the obtained data. RESULTS Analysis of clinical features among the study groups revealed children with complicated dengue had persistent vomiting (95%, abdominal pain (80%, decreased urine output (50%, bleeding manifestations (83.3%, hepatomegaly (70%, haemoconcentration with concurrent thrombocytopenia (93.3%, altered coagulation profile (28.3%, ICU stay (54.7%, leucocytosis (15%, leucopenia (66.6% and normal leucocytes (18.4%. Analysis of IL-4 levels revealed children with complicated dengue showed >6 fold elevation in IL-4 levels (p=0.003. Mean IL-4 levels in complicated dengue group was also statistically