Sample records for earliest clinical manifestation
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[Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options].
Martos-Moreno, Gabriel A; Calzada, Joan; Couce, María L; Argente, Jesús
2018-06-01
Hypophosphatasia is a very rare bone metabolism disorder caused by a deficiency in alkaline phosphatase activity, due to mutations in the ALPL gene. Its clinical hallmark is the impairment of skeletal and teeth mineralisation, although extra-skeletal manifestations are frequent. Its phenotypic spectrum is widely variable from a subtype with exclusive odontological impairment (odontohypophosphatasia) to five subtypes with systemic involvement, classified according to the age at the onset of the first symptoms (four of them in the paediatric age range: perinatal lethal, perinatal benign, infant and childhood hypophosphatasia). Those subtypes of hypophosphatasia with an earliest onset usually involve a worse prognosis, due to the risk of developing potentially lethal complications, such as seizures or severe respiratory insufficiency, secondary to rib cage malformations. Due to the extremely low prevalence of the severe forms of hypophosphatasia, its clinical variability and overlapping phenotypic features with several more prevalent conditions, the diagnosis of hypophosphatasia in the clinical setting is challenging. However, its potential lethality and impact on the patient's quality of life, along with the recent availability of an enzyme replacement therapy, increases the relevance of the early and accurate identification of patients affected with hypophosphatasia. On the basis of published evidence and clinical experience, this article suggests an algorithm with practical recommendations for the differential diagnosis of childhood hypophosphatasia, as well as an updated review of current therapeutic options. Copyright © 2017 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.
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Braverman, Nancy E; Raymond, Gerald V; Rizzo, William B; Moser, Ann B; Wilkinson, Mark E; Stone, Edwin M; Steinberg, Steven J; Wangler, Michael F; Rush, Eric T; Hacia, Joseph G; Bose, Mousumi
2016-03-01
Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by mutations in PEX genes responsible for normal peroxisome assembly and functions. As a result of impaired peroxisomal activities, individuals with PBD-ZSD can manifest a complex spectrum of clinical phenotypes that typically result in shortened life spans. The extreme variability in disease manifestation ranging from onset of profound neurologic symptoms in newborns to progressive degenerative disease in adults presents practical challenges in disease diagnosis and medical management. Recent advances in biochemical methods for newborn screening and genetic testing have provided unprecedented opportunities for identifying patients at the earliest possible time and defining the molecular bases for their diseases. Here, we provide an overview of current clinical approaches for the diagnosis of PBD-ZSD and provide broad guidelines for the treatment of disease in its wide variety of forms. Although we anticipate future progress in the development of more effective targeted interventions, the current guidelines are meant to provide a starting point for the management of these complex conditions in the context of personalized health care. Copyright © 2015 Elsevier Inc. All rights reserved.
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[Clinical manifestations of neurocysticercosis].
San-juan Orta, D
2009-06-01
Cysticercosis is a common parasitic infection caused by the larval phase of the Taenia solium, it infects humans as well as pigs. Considered an endemic parasitosis in developing countries including Latin America, Asia and Africa. Clinical manifestations of the disease can be influenced by ambient factors, host individualities and the infectious agent itself. Neurocysticercosis can be asymptomatic or present with various signs and symptoms that can vary in severity. This review is focused on analyzing the various presentations of Neurocysticercosis throughout different age groups, and special populations. We found asymptomatic presentations to be the most common form, followed by various grades of severity including in its most severe form death. The most common alterations include: epilepsy (60-90%), intracraneal hypertension (14-27%), as well as neuropsychiatric symptoms (5-52%), and focal neurological deficits (4-19%). The heterogeneity of the clinical scenario relies upon parasite factors (number, localization and stage of central nervous system [CNS] disease), host particularities (gender, age and immunologic response), and finally environmental factors. The most common form of infection is asymptomatic although there are various forms of clinical manifestations that rely upon different factors including environment, host response and the parasite itself.
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Clinical manifestations of food allergy.
Perry, Tamara T; Pesek, Robbie D
2013-06-01
Adverse reactions to foods are a diverse group of clinical syndromes resulting from immunologic and non-immunologic responses to food ingestion. Symptoms can range from mild, self-limiting reactions to severe, life-threatening reactions depending on the mechanism. This review primarily focuses on the clinical manifestations of immunologically derived adverse food reactions or food allergies.The true prevalence of food allergy is unknown. Up to 25% of the general population believes that they may be allergic to some food; however, the actual prevalence of food allergy diagnosed by a provider appears to be 1.5% to 2% of the adult population and approximately 6% to 8% of children. This discrepancy makes it imperative that clinicians are aware of the different food allergy syndromes. With a clear understanding of the clinical manifestations of food allergies, an accurate diagnosis and treatment plan can be formulated. Failing to do so may result in unnecessary dietary restrictions that may adversely affect nutritional status, growth, and quality of life.Most food allergic reactions are secondary to a limited number of foods, and the most common foods causing allergic reactions in children include milk, egg, peanuts, tree nuts, and fish. In adolescents and adults, allergies to peanuts, tree nuts, fish, and shellfish are most prevalent. Food allergies can result from immunoglobulin E (IgE)-mediated, non-IGE-mediated, or mixed IgE/non-IgE mechanisms. The purpose of this review is to discuss the clinical manifestations of each of these types of food allergy. Copyright 2013, SLACK Incorporated.
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Clinical manifestations of scrub typhus.
Rajapakse, Senaka; Weeratunga, Praveen; Sivayoganathan, Sriharan; Fernando, Sumadhya Deepika
2017-02-01
The mite-borne rickettsial zoonosis scrub typhus is widely prevalent in parts of Southeast and Far East Asia, and northern Australia. The disease is an acute febrile illness, associated with rash and often an eschar, which responds dramatically to treatment with antibiotics. In some cases it results in a serious illness leading to multiple organ involvement and death. The disease manifestations are thought to result from a systemic vasculitis, caused by both direct effects of the organisms as well as an exaggerated immune response, although little is understood about its pathogenesis. A wide spectrum of clinical manifestations, affecting nearly every organ system, have been described with scrub typhus. Some of these manifestations are serious and life threatening. In this systematic review, we summarise the typical and atypical manifestations of scrub typhus reported in the literature. Awareness of these unusual manifestations will hopefully guide clinicians towards diagnosing the condition early, and initiating early appropriate antibiotics and other supportive measures. © The Author 2017. Published by Oxford University Press on behalf of Royal Society of Tropical Medicine and Hygiene. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
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Clinical Manifestations Associated with Neurocysticercosis: A Systematic Review
Carabin, Hélène; Ndimubanzi, Patrick Cyaga; Budke, Christine M.; Nguyen, Hai; Qian, Yingjun; Cowan, Linda Demetry; Stoner, Julie Ann; Rainwater, Elizabeth; Dickey, Mary
2011-01-01
Background The clinical manifestations of neurocysticercosis (NCC) are poorly understood. This systematic review aims to estimate the frequencies of different manifestations, complications and disabilities associated with NCC. Methods A systematic search of the literature published from January 1, 1990, to June 1, 2008, in 24 different electronic databases and 8 languages was conducted. Meta-analyses were conducted when appropriate. Results A total of 1569 documents were identified, and 21 included in the analysis. Among patients seen in neurology clinics, seizures/epilepsy were the most common manifestations (78.8%, 95%CI: 65.1%–89.7%) followed by headaches (37.9%, 95%CI: 23.3%–53.7%), focal deficits (16.0%, 95%CI: 9.7%–23.6%) and signs of increased intracranial pressure (11.7%, 95%CI: 6.0%–18.9%). All other manifestations occurred in less than 10% of symptomatic NCC patients. Only four studies reported on the mortality rate of NCC. Conclusions NCC is a pleomorphic disease linked to a range of manifestations. Although definitions of manifestations were very rarely provided, and varied from study to study, the proportion of NCC cases with seizures/epilepsy and the proportion of headaches were consistent across studies. These estimates are only applicable to patients who are ill enough to seek care in neurology clinics and likely over estimate the frequency of manifestations among all NCC cases. PMID:21629722
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Clinical manifestations associated with neurocysticercosis: a systematic review.
Carabin, Hélène; Ndimubanzi, Patrick Cyaga; Budke, Christine M; Nguyen, Hai; Qian, Yingjun; Cowan, Linda Demetry; Stoner, Julie Ann; Rainwater, Elizabeth; Dickey, Mary
2011-05-01
The clinical manifestations of neurocysticercosis (NCC) are poorly understood. This systematic review aims to estimate the frequencies of different manifestations, complications and disabilities associated with NCC. A systematic search of the literature published from January 1, 1990, to June 1, 2008, in 24 different electronic databases and 8 languages was conducted. Meta-analyses were conducted when appropriate. A total of 1569 documents were identified, and 21 included in the analysis. Among patients seen in neurology clinics, seizures/epilepsy were the most common manifestations (78.8%, 95%CI: 65.1%-89.7%) followed by headaches (37.9%, 95%CI: 23.3%-53.7%), focal deficits (16.0%, 95%CI: 9.7%-23.6%) and signs of increased intracranial pressure (11.7%, 95%CI: 6.0%-18.9%). All other manifestations occurred in less than 10% of symptomatic NCC patients. Only four studies reported on the mortality rate of NCC. NCC is a pleomorphic disease linked to a range of manifestations. Although definitions of manifestations were very rarely provided, and varied from study to study, the proportion of NCC cases with seizures/epilepsy and the proportion of headaches were consistent across studies. These estimates are only applicable to patients who are ill enough to seek care in neurology clinics and likely over estimate the frequency of manifestations among all NCC cases.
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Idiopathic Pulmonary Fibrosis: Diagnosis and Clinical Manifestations
Nakamura, Yutaro; Suda, Takafumi
2015-01-01
Idiopathic pulmonary fibrosis (IPF) is a parenchymal lung disease characterized by progressive interstitial fibrosis. The clinical course of IPF can be unpredictable and may be punctuated by acute exacerbations. Although much progress is being made in unraveling the mechanisms underlying IPF, effective therapy for improving survival remains elusive. Longitudinal disease profiling, especially in terms of clinical manifestations in a large cohort of patients, should lead to proper management of the patients and development of new treatments for IPF. Appropriate multidisciplinary assessment in ongoing registries is required to achieve this. This review summarizes the current status of the diagnosis and clinical manifestations of IPF. PMID:27625576
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[Lyme disease--clinical manifestations and treatment].
Stock, Ingo
2016-05-01
Lyme disease (Lyme borreliosis) is a systemic infectious disease that can present in a variety of clinical manifestations. The disease is caused by a group of spirochaetes--Borrelia burgdorferi sensu lato or Lyme borrelia--that are transmitted to humans by the bite of Ixodes ticks. Lyme disease is the most common arthropode-borne infectious disease in many European countries including Germany. Early localized infection is typically manifested by an erythema migrans skin lesion, in rarer cases as a borrelial lymphocytoma. The most common early disseminated manifestation is (early) neuroborreliosis. In adults, neuroborreliosis appears typically as meningoradiculoneuritis. Neuroborreliosis in children, however, is typically manifested by meningitis. In addition, multiple erythema migrans lesions and Lyme carditis occur relatively frequently. The most common manifestation oflate Lyme disease is Lyme arthritis. Early manifestations (and usually also late manifestations) of Lyme disease can be treated successfully by application of suitable antibacterial agents. For the treatment of Lyme disease, doxycycline, certain penicillins such as amoxicillin and some cephalosporins (ceftriaxone, cefotaxime, cefuroxime axetil) are recommended in current guidelines. A major challenge is the treatment of chronic, non-specific disorders, i. e., posttreatment Lyme disease syndrome and "chronic Lyme disease". Prevention of Lyme disease is mainly accomplished by protecting against tick bites. Prophylactic administration of doxycycline after tick bites is generally not recommended in Germany. There is no vaccine available for human beings.
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MRI and clinical manifestations of delayed encephalopathy after carbon monoxide poisoning.
Wang, Xiahong; Li, Zhenyu; Berglass, Jacqueline; He, Wenlong; Zhao, Jianmin; Zhang, Min; Gao, Chongyang; Zhang, Caixia; Zhang, Huimin; Yi, Xuewei
2016-11-01
To explore the relationship between the clinical manifestations and functional magnetic resonance images of delayed encephalopathy after carbon monoxide intoxication. Six patients received the MRI were diagnosed with delayed encephalopathy after carbon monoxide (CO) poisoning. Clinical manifestations were observed in each patient. MRI revealed multiple lesions. The majority of the lesions were located in the globus pallidus, sub cortical white matter, and basal ganglia. The cognitive injury, akinetic mutism, fecal and uroclepsia, forced crying, forced laughing and extra pyramidal syndromes such as chorea and parkinsonism were manifested in clinic. Cognitive impairment improved greatly while involuntary movements only improved slightly after several months. Meanwhile brain MRI suggested remarkable improvement. Neuroimaging directly correlated with the clinical manifestations.
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Majer, Marcin; Gackowski, Daniel; Różalski, Rafał; Siomek-Górecka, Agnieszka; Oliński, Ryszard; Budzyński, Jacek
2017-01-01
Introduction Endothelial dysfunction is recognized as the earliest disorder in the development of atherosclerosis, in the pathogenesis of which oxidative stress plays a crucial role. The aim of this study was to determine the relationships between non-invasive parameters of vascular dysfunction and oxidative stress. Material and methods Forty-eight individuals without clinical manifestation of atherosclerosis were studied. The plasma concentrations of the following were determined in all 48 subjects: retinol, ascorbic acid, α-tocopherol and uric acid, as well as the products of oxidative DNA damage repair: 8-oxo-7,8-dihydro-2’-deoxyguanosine (8-oxodG) in blood leukocytes and urine, and 8-oxo-7,8-dihydroguanine (8-oxoGua) in urine. The following parameters of vascular dysfunction were also examined: flow- (FMD) and nitroglycerin- (NMD) mediated dilatation of the brachial artery, pulse pressure (PP), distensibility coefficient (DC), pulsation (PI) and resistance (RI) index, carotid intima-media thickness (cIMT), and ankle-brachial index (ABI). Results Individuals with an FMD value of ≥ 8.8% had significantly higher blood concentrations of antioxidative vitamins and lower concentrations of 8-oxodG in their urine and blood leukocytes than their counterparts. Blood concentration of alpha-tocopherol or ascorbic acid positively correlated with FMD, PI, RI, DC and ABI and negatively with PP and cIMT. The reverse was the case for 8-oxodG in urine and leukocytes. In multiple regression analysis, markers of oxidative DNA damage positively determined the variance in PP and ABI. Conclusions In persons without clinical manifestation of atherosclerosis, oxidative stress was an independent factor associated with vascular wall dysfunction, and a better predictor than smoking and blood concentrations of glucose, lipids and creatinine. PMID:29242843
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[Cardiac sarcoidosis - clinical manifestation and diagnosis].
Błaut-Jurkowska, Justyna; Podolec, Piotr; Olszowska, Maria
2016-08-01
Sarcoidosis is a multisystem inflammatory disease defined histologically by the formation of noncaseating granulomas. The etiology of sarcoidosis remains unknown. Heart involvement in the course of sarcoidosis concerns about 5% of patients. The most common manifestation of cardiac sarcoidosis are conduction abnormalities, arrhythmias and heart failure. The diagnostic algorithm includes performing a clinical history, a 12-lead electrocardiogram (ECG) and an echocardiogram. If any of the initial screening investigations yields an abnormality, diagnostics should be continue using advanced imaging techniques: cardiovascular magnetic resonance (CMR) or fluorodeoxyglucose positron emission tomography (FDG-PET). Nowadays endomyocardial biopsy is not performed routinely.The clinical picture of cardiac sarcoidosis is highly variable. Screening for cardiac sarcoidosis should be performed in all patients diagnosed with extracardiac sarcoidosis. Cardiac sarcoidosis should also be suspected in young patients without a diagnosis of sarcoidosis who present with conduction abnormalities of unknown etiology, because cardiac sarcoidosis may be the first or the only manifestation of the disease. © 2016 MEDPRESS.
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Clinical manifestations and diagnosis of acromegaly.
Lugo, Gloria; Pena, Lara; Cordido, Fernando
2012-01-01
Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Acromegaly is a disabling disease that is associated with increased morbidity and reduced life expectancy. The diagnosis is based primarily on clinical features and confirmed by measuring GH levels after oral glucose loading and the estimation of IGF-I. It has been suggested that the rate of mortality in patients with acromegaly is correlated with the degree of control of GH. Adequately treated, the relative mortality risk can be markedly reduced towards normal.
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Clinical Manifestations and Diagnosis of Acromegaly
Lugo, Gloria; Pena, Lara; Cordido, Fernando
2012-01-01
Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Acromegaly is a disabling disease that is associated with increased morbidity and reduced life expectancy. The diagnosis is based primarily on clinical features and confirmed by measuring GH levels after oral glucose loading and the estimation of IGF-I. It has been suggested that the rate of mortality in patients with acromegaly is correlated with the degree of control of GH. Adequately treated, the relative mortality risk can be markedly reduced towards normal. PMID:22518126
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Clinical manifestations of ocular toxoplasmosis.
Delair, Emmanuelle; Latkany, Paul; Noble, A Gwendolyn; Rabiah, Peter; McLeod, Rima; Brézin, Antoine
2011-04-01
Clinical manifestations of ocular toxoplasmosis are reviewed. Findings of congenital and acute acquired ocular toxoplasmosis include retinal scars, white-appearing lesions in the active phase often associated with vitritis. Complications can include fibrous bands, secondary serous or rhegmatogenous retinal detachments, optic neuritis and neuropathy, cataracts, increased intraocular pressure during active infection, and choroidal neovascular membranes. Recurrences in untreated congenital toxoplasmosis occur in teenage years. Manifestations at birth are less severe, and recurrences are fewer in those who were treated promptly early in the course of their disease in utero and in the first year of life. Severe retinal involvement is common at diagnosis of symptomatic congenital toxoplasmosis in the United States and Brazil. Acute acquired infections also may be complicated by toxoplasmic retinochoroiditis, with recurrences most common close to the time of acquisition. Suppressive treatment can reduce recurrent disease.
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[Clinical manifestations of Legionella pneumonia in hematology patients].
Galstian, G M; Kostina, I É; Katrysh, S A; Kliasova, G A; Karpova, T I; Tartakovskiĭ, I S
2014-01-01
To detect the most common clinical manifestations of Legionella pneumonia (LP) in immunocompromized patients. Clinical manifestations, the results of investigation of bronchoalveolar lavage fluid (BALF) and urine, and the data of lung computed tomography (CT) were studied in patients with blood system diseases and acute respiratory failure (ARF). The diagnosis of LP was verified in 8 (10.5%) of 76 patients with blood system diseases and ARF. The disease manifested as fever, higher concentrations of inflammatory markers (procalcitonin, fibrinogen), ARF, hypoxemia, and infiltrative lung injury. Six of the 8 patients were switched to mechanical ventilation. Lung CT showed no pathognomonic signs. Five of the 8 patients were observed to have renal dysfunction. The diagnosis of LP was made on the basis of the results of BALF examination in 7 patients and urinary antigen detection in 1. The disease was caused by Legionella pneumophila serogroup 1 in 3 patients and by L. pneumophila of other serogroups in the other patients. Therapy with respiratory fluoroquinolones was performed in 5 patients. Three patients died from progressive ARF and hypoxemia. BALF results were obtained after their death and therapy for legionellosis was not initiated. The incidence of LP is 10.5% in hematology patients. The clinical manifestations of legionellosis are nonspecific; its diagnosis requires bacteriological and/or serological evidence. Due to the high risk of death, it is reasonable to preuse respiratory fluoroquinolones or macrolides in immunocompromized patients with progressive ARF and suspected Legionella pneumonia before diagnosis.
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Norrie disease: extraocular clinical manifestations in 56 patients.
Smith, Sharon E; Mullen, Thomas E; Graham, Dionne; Sims, Katherine B; Rehm, Heidi L
2012-08-01
Norrie disease (ND) is an X-linked recessive disorder characterized by congenital blindness, progressive sensorineural hearing loss and cognitive impairment. The ocular phenotype has been well described, while the extraocular manifestations of the disorder are not well understood. We present the data from the Norrie Disease Registry, which consists of 56 patients with detailed clinical histories and genotype data. This study represents the largest, detailed investigation into the phenotypic spectrum of ND to date and more importantly expands knowledge of the extraocular clinical manifestations. We identify several novel aspects of the syndrome that will improve the management of these patients. In particular, we expand our understanding of the neurologic manifestations in ND and identify a chronic seizure disorder in approximately 10% of all patients. In addition, details of the hearing phenotype are described including the median age of onset (12 years of age) and how genotype affects onset. Moreover, we find vascular disease to be a significant component of ND; and vascular health should be, in the future, a component of patient clinical care. In summary, the results expand our understanding of the phenotypic variability and genotypic heterogeneity in ND patients. Copyright © 2012 Wiley Periodicals, Inc.
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Manifest Content in the Dreams of Clinical Populations.
ERIC Educational Resources Information Center
Mellen, Ronald R.; And Others
1993-01-01
Reviews relevant literature to examine relationships between dream content and diagnosis of clinical populations. Although many clinical populations remain unexamined in terms of meaningful characterizations of their dream life, relationship between manifest content and differential diagnosis is noted and generalizations are offered for different…
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Anderson, Natalie Elizabeth; Kent, Bridie; Owens, R Glynn
2015-03-01
Death and dying are inevitable life encounters, but a nurse's first experience with patient death may pose considerable cognitive, emotional and clinical challenges. This paper reports the findings of the second phase of a study; the first has been reported elsewhere. This phase explored the earliest memorable patient death experiences of New Zealand registered nurses. A purposeful, self-selected sub-sample of a larger study of New Zealand registered nurses, took part in individual face-to-face semi-structured interviews. Interpretative phenomenological analysis was utilised to seek to understand participants' experiences. Thematic analysis was undertaken to identify emerging themes, with participants' own words used as theme headings, where their phrases provided succinct or powerful descriptors. A diverse participant group of twenty, currently practising, New Zealand registered nurses provided rich and detailed descriptions of their earliest memorable experience with patient death. Participants from a variety of training backgrounds described patient deaths, which occurred in a range of settings - some only a few months prior, others - more than thirty years ago. Seven emergent themes, and features of more positive, or negative experiences were identified: Event Significance; Emotional Challenges; Sharing the Experience; Learning; Feeling Unprepared, Responses to Death and Finding Benefits. For participants in this study, there was considerable evidence that their earliest memorable patient death was a significant event. Furthermore, although most participants' experiences were characterised by emphatic or poignant description, there was most often a balance of challenges and rewards. Copyright © 2014 Elsevier Ltd. All rights reserved.
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[Streptococcus suis infection--clinical manifestations].
Dragojlović, Julijana; Milosević, Branko; Sasić, Neda; Pelemis, Mijomir; Sasić, Milan
2005-01-01
Streptococcus suis is a bacterium causing a disease in pigs and rarely in humans. This zoonosis is mostly found as a sporadic disease in individuals that were in contact with the affected or infected pigs: farmers, veterinarians and workers engaged in fresh pork processing. It is assumed that the bacterium enters the body through a cut abrasion in the skin. Initially, the condition resembles a flu, followed by signs of bacteriemia and sepsis. The most frequent clinical manifestation of Streptococcus suis infection is meningitis, leading to hearing loss in over 75% of patients, and subsequent arthritis, endophtalmitis, endocarditis and pneumonia. Toxic shock syndrome with hemorhagic manifestations rarely develops. This study included five male patients aged 22 to 63 years treated in the Intensive Care Unit of the Institute of Infectious and Tropical Diseases in Belgrade, due to Streptococcus suis infection. The aim of this study was to point to the existence of this bacteria in our environment, to describe clinical manifestations of the disease and to point out the importance of its prevention. All patients had epidemiological evidence of being in contact with pork meat. There were no data about diseased pigs. The estimated incubation period was 4 to 8 days. All patients had meningeal signs. Clinical symptoms included shivering, fever, vomiting, headache, malaise, vertigo and tinitus. Three patients presented with alerterd level of awarrness. Four patients developed very severe bilateral hearing impairment, whereas one endophtalmtis and one developed endocarditis. The cerebrospinal fluid (CSF) was opalescent in four patients, and only one patient presented with clear CSF. CSF examination showed typical changes characteristic for bacterial meningitis. Streptoccocus suis was isolated in CSF in all patients, and in one patient the bacteria was isolated in blood as well. All patients underwent treatement with II and III generation cephalosporins and one with one
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Less common clinical manifestations of atopic dermatitis: prevalence by age.
Julián-Gónzalez, Rolando Elias; Orozco-Covarrubias, Luz; Durán-McKinster, Carola; Palacios-Lopez, Carolina; Ruiz-Maldonado, Ramon; Sáez-de-Ocariz, Marimar
2012-01-01
The common manifestations of atopic dermatitis (AD) appear sequentially with involvement of the cheeks in infancy, flexural extremities in childhood, and hands in adulthood. Although less common clinical manifestations are well described, they have not been the subject of epidemiologic studies to describe their prevalence in specific age groups. This observational, cross-sectional, comparative study included 131 children younger than 18 of both sexes with AD who attended the clinics of the Dermatology Department of the National Institute of Pediatrics in Mexico City. Patients were examined to determine the presence of infrequent clinical manifestations of AD during infancy, preschool and school age, and adolescence and stratified according to sex, age, and number of clinical signs. A chi-square test was used to detect differences according to age and sex. Logistic regression analysis was also performed. The main findings according to age were genital dermatitis and papular-lichenoid dermatitis variant in infants; atopic feet, prurigo-like, nummular pattern, and erythroderma in preschool and school-aged children; and eyelid eczema and nipple dermatitis in adolescents. The risk of development of nipple dermatitis and eyelid eczema increased with age, and the development of genital dermatitis decreased with age. The knowledge of the prevalence of less common clinical manifestations of AD according to age in different populations might be helpful in diagnosing incipient cases of AD. © 2012 Wiley Periodicals, Inc.
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Davis, Joshua S.; Eichenberger, Emily; Holland, Thomas L.
2015-01-01
SUMMARY Staphylococcus aureus is a major human pathogen that causes a wide range of clinical infections. It is a leading cause of bacteremia and infective endocarditis as well as osteoarticular, skin and soft tissue, pleuropulmonary, and device-related infections. This review comprehensively covers the epidemiology, pathophysiology, clinical manifestations, and management of each of these clinical entities. The past 2 decades have witnessed two clear shifts in the epidemiology of S. aureus infections: first, a growing number of health care-associated infections, particularly seen in infective endocarditis and prosthetic device infections, and second, an epidemic of community-associated skin and soft tissue infections driven by strains with certain virulence factors and resistance to β-lactam antibiotics. In reviewing the literature to support management strategies for these clinical manifestations, we also highlight the paucity of high-quality evidence for many key clinical questions. PMID:26016486
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Naveen, Kikkeri Narayanashetty; Tophakane, R S; Hanumanthayya, Keloji; Pv, Bhagawat; Pai, Varadraj V
2011-12-15
To study the various clinical presentations of herpes zoster and to find out the proportion of HIV positivity in these patients. A time bound study was conducted from November 2004 to October 2005. All clinically diagnosed cases of herpes zoster were tested for HIV infection with ELISA and confirmed by Tridot and Coomb AID. Total numbers of 90 zoster cases were recorded. Mean duration of pre herpetic neuralgia was 2.134 (standard deviation=1.424, F=8.951, P<0.001). The thoracic dermatome (46.66%) was most commonly involved, followed by the cranial nerves (18.88%), lumbar (14.44%), cervical (13.33%) and sacral (6.66%) nerves. A substantial proportion, 34 (37.77%) out of 90 cases, were found to be HIV positive. Of these, 64.7 percent of the HIV seropositive herpes zoster patients belonged to the age group of 21-40 years. Out of 39 who had a risk of exposure to STDs and whose ages were less than 50 years, 31 (79.48%) tested positive for HIV infection. The occurrence of zoster in the young age group in patients who report a history of risk factors for HIV, may need testing. Herpes zoster serves as a clinical indicator of HIV seropositivity and one of the earliest manifestations.
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Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations
Kim, Hunmin; Hwang, Hee; Cheong, Hae Il
2011-01-01
Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with mutations in 2 different genes (CACNA1Sp.Arg528His and SCN4A p.Arg672His). Despite the similar clinical manifestations, there were differences in the response to acetazolamide treatment between certain genotypes of SCN4A mutations and CACNA1S mutations. We identified p.Arg672His in the SCN4A gene of patient 2 immediately after the first attack through a molecular genetic testing strategy. Molecular genetic diagnosis is important for genetic counseling and selecting preventive treatment. PMID:22253645
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Acute dacryocystitis: another clinical manifestation of sporotrichosis
Freitas, Dayvison Francis Saraiva; Lima, Iluska Augusta Rocha; Curi, Carolina Lemos; Jordão, Livia; Zancopé-Oliveira, Rosely Maria; do Valle, Antonio Carlos Francesconi; Galhardo, Maria Clara Gutierrez; Curi, Andre Luiz Land
2013-01-01
Sporotrichosis associated with exposure to domestic cats is hyperendemic in Rio de Janeiro, Brazil. A review of the clinical records at our institute revealed four patients with clinical signs of dacryocystitis and a positive conjunctival culture for Sporothrix who were diagnosed with Sporothrix dacryocystitis. Three patients were children (< 13 years of age) and one patient was an adult. Two patients reported contact with a cat that had sporotrichosis. Dacryocystitis was associated with nodular, ulcerated lesions on the face of one patient and with granulomatous conjunctivitis in two patients; however, this condition manifested as an isolated disease in another patient. All of the patients were cured of the fungal infections, but three patients had chronic dacryocystitis and one patient developed a cutaneous fistula. Sporotrichosis is usually a benign disease, but may cause severe complications when the eye and the adnexa are affected. Physicians, especially ophthalmologists in endemic areas, should be aware of the ophthalmological manifestations and complications of sporotrichosis. PMID:24810176
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Acute dacryocystitis: another clinical manifestation of sporotrichosis.
Freitas, Dayvison Francis Saraiva; Lima, Iluska Augusta Rocha; Curi, Carolina Lemos; Jordão, Livia; Zancopé-Oliveira, Rosely Maria; Valle, Antonio Carlos Francesconi do; Galhardo, Maria Clara Gutierrez; Curi, Andre Luiz Land
2014-04-01
Sporotrichosis associated with exposure to domestic cats is hyperendemic in Rio de Janeiro, Brazil. A review of the clinical records at our institute revealed four patients with clinical signs of dacryocystitis and a positive conjunctival culture for Sporothrix who were diagnosed with Sporothrix dacryocystitis. Three patients were children (< 13 years of age) and one patient was an adult. Two patients reported contact with a cat that had sporotrichosis. Dacryocystitis was associated with nodular, ulcerated lesions on the face of one patient and with granulomatous conjunctivitis in two patients; however, this condition manifested as an isolated disease in another patient. All of the patients were cured of the fungal infections, but three patients had chronic dacryocystitis and one patient developed a cutaneous fistula. Sporotrichosis is usually a benign disease, but may cause severe complications when the eye and the adnexa are affected. Physicians, especially ophthalmologists in endemic areas, should be aware of the ophthalmological manifestations and complications of sporotrichosis.
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Clinical Manifestations and Outcomes of West Nile Virus Infection
Sejvar, James J.
2014-01-01
Since the emergence of West Nile virus (WNV) in North America in 1999, understanding of the clinical features, spectrum of illness and eventual functional outcomes of human illness has increased tremendously. Most human infections with WNV remain clinically silent. Among those persons developing symptomatic illness, most develop a self-limited febrile illness. More severe illness with WNV (West Nile neuroinvasive disease, WNND) is manifested as meningitis, encephalitis or an acute anterior (polio) myelitis. These manifestations are generally more prevalent in older persons or those with immunosuppression. In the future, a more thorough understanding of the long-term physical, cognitive and functional outcomes of persons recovering from WNV illness will be important in understanding the overall illness burden. PMID:24509812
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Thong, Wen Yi; Han, Audrey; Wang, S J Furene; Lin, Jeremy; Isa, Mas Suhaila; Koay, Evelyn Siew Chuan; Tay, Stacey Kiat-Hong
2017-04-01
Enterovirus infections in childhood can be associated with significant neurological morbidity. This study aimed to describe the prevalence and range of neurological manifestations, determine the clinical characteristics and assess differences in clinical outcomes for Singaporean children diagnosed with enterovirus infections. In this single-centre, case-control study, clinical data was collected retrospectively from patients admitted to National University Hospital, Singapore, from August 2007 to October 2011 and diagnosed with enterovirus infection, based on the enterovirus polymerase chain reaction test, or cultures from throat and rectal swabs or cerebrospinal fluid samples. The occurrence of neurological manifestations was reviewed and clinical outcomes were assessed. A total of 48 patients (age range: six days-17.8 years) were included in the study. Neurological manifestations were seen in 75.0% of patients, 63.9% of whom presented with aseptic meningitis. Other neurological manifestations included encephalitis, acute cerebellitis, transverse myelitis and autonomic dysfunction. The incidence of neurological manifestations was significantly higher in patients aged > 1 year as compared to younger patients (p = 0.043). In patients without neurological manifestations, a significantly higher proportion presented with hand, foot and mouth disease and poor feeding. Long-term neurological sequelae were seen in 16.7% of patients with neurological manifestations. A wide spectrum of neurological manifestations resulting in a relatively low incidence of long-term neurological sequelae was observed in our study of Singaporean children with enterovirus infections. As some of these neurological morbidities were severe, careful evaluation of children with neurological involvement is therefore necessary. Copyright: © Singapore Medical Association
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Clinical manifestations of tension pneumothorax: protocol for a systematic review and meta-analysis
2014-01-01
Background Although health care providers utilize classically described signs and symptoms to diagnose tension pneumothorax, available literature sources differ in their descriptions of its clinical manifestations. Moreover, while the clinical manifestations of tension pneumothorax have been suggested to differ among subjects of varying respiratory status, it remains unknown if these differences are supported by clinical evidence. Thus, the primary objective of this study is to systematically describe and contrast the clinical manifestations of tension pneumothorax among patients receiving positive pressure ventilation versus those who are breathing unassisted. Methods/Design We will search electronic bibliographic databases (MEDLINE, PubMed, EMBASE, and the Cochrane Database of Systematic Reviews) and clinical trial registries from their first available date as well as personal files, identified review articles, and included article bibliographies. Two investigators will independently screen identified article titles and abstracts and select observational (cohort, case–control, and cross-sectional) studies and case reports and series that report original data on clinical manifestations of tension pneumothorax. These investigators will also independently assess risk of bias and extract data. Identified data on the clinical manifestations of tension pneumothorax will be stratified according to whether adult or pediatric study patients were receiving positive pressure ventilation or were breathing unassisted, as well as whether the two investigators independently agreed that the clinical condition of the study patient(s) aligned with a previously published tension pneumothorax working definition. These data will then be summarized using a formal narrative synthesis alongside a meta-analysis of observational studies and then case reports and series where possible. Pooled or combined estimates of the occurrence rate of clinical manifestations will be calculated using
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Clinical manifestation and molecular genetic characterization of MYH9 disorders.
Provaznikova, Dana; Geierova, Vera; Kumstyrova, Tereza; Kotlin, Roman; Mikulenkova, Dana; Zurkova, Kamila; Matoska, Vaclav; Hrachovinova, Ingrid; Rittich, Simon
2009-08-01
Currently, the May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FTNS) and Epstein (EPS) syndrome are considered to be distinct clinical manifestations of a single disease caused by mutations of the MYH9 gene encoding the heavy chain of non-muscle myosin IIA (NMMHC-IIA). Manifestations of these disorders include giant platelets, thrombocytopenia and combinations of the presence of granulocyte inclusions, deafness, cataracts and renal failure. We examined 15 patients from 10 unrelated families on whom we performed immunostaining of NMMHC-IIA in blood samples. Polymerase chain reaction (PCR) analysis of selected exons of the MYH9 gene revealed mutations in nine samples with one novel mutation. Results of fluorescence and mutational analysis were compared with clinical manifestations of the MYH9 disorder. We also determined the number of glycoprotein sites on the surface of platelets. Most patients had an increased number of glycoproteins, which could be due to platelet size.
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Gromadzka, Graznya; Schmidt, Harmut H J; Genschel, Janine; Bochow, Bettina; Rodo, M; Tarnacka, Beatek; Litwin, Thomas; Chabik, Grzegorz; Członkowska, Anna
2006-02-01
We compared the effect of the p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on the phenotypic expression of Wilson's disease (WD), and assessed whether the clinical phenotype of WD in compound heterozygotes depends on the type of mutation coexisting with the p.H1069Q. One hundred forty-two patients with clinically, biochemically, and genetically diagnosed WD were studied. The mutational analysis of ATP7B was performed by direct sequencing. A total number of 26 mutations in ATP7B were identified. The p.His1069Gln was the most common mutation (allelic frequency: 72%). Seventy-three patients were homozygous for this mutation. Of compound heterozygotes, 37 had frameshift/nonsense mutation, and 20 had other missense mutation on one of their ATP7B alleles. Twelve patients had two non-p.H1069Q mutations. Patients homozygous for the p.H1069Q mutation had the less severe disturbances of copper metabolism and the latest presentation of first WD symptoms. The most severely disturbed copper metabolism and the earliest age at initial disease manifestation was noticed in non-p.H1069Q patients. In compound heterozygotes, the type of mutation coexisting with the p.H1069Q to a small extent influenced WD phenotype. The phenotype of WD varied considerably among patients with the same genotype. The p.H1069Q mutation is associated with late WD manifestation and with a mild disruption of copper metabolism. In compound heterozygotes, the phenotype of WD to a small extent depends on the type of mutation coexisting with the p.H1069Q. Besides genotype, additional modifying factors seem to determine WD manifestations. Copyright (c) 2005 Movement Disorder Society.
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[Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].
Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He
2017-02-10
To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.
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Bahrami-Motlagh, Hooman; Hassanian-Moghaddam, Hossein; Zamini, Hedieh; Zamani, Nasim; Gachkar, Latif
2018-02-01
Little is known about methamphetamine body stuffers and correlation of clinical manifestations with imaging studies. Current study was done to determine abdominopelvic computed tomography findings and clinical manifestations in methamphetamine body stuffers. In an IRB-approved routine data base study, demographic characteristics, clinical findings, and CT results of 70 methamphetamine body stuffers were retrieved. According to the clinical manifestations, the patients were categorized into either benign- or severe-outcome group. Also, they were determined to have positive or negative CT results. In the group with positive results, number and place of the baggies were determined, as well. Results of the CT were compared between the two groups. Almost 43% of the patients had positive abdominopelvic CT results. Mean density of the packs was 176.2 ± 152.7 Hounsfield unit. Based on the clinical grounds, 57% of the patients were in the benign- and 33% were in the severe-outcome group. In the benign group, 45% of the patients had positive CTs while in the severe-risk group, this was 40% (p > 0.05). Except variables defined as severe outcome (seizure, intubation, creatinine level, aspartate aminotransferase level, creatine phosphokinase and troponin level), agitation, on-arrival pulse rate, lactate dehydrogenase, bicarbonate, base excess, loss of consciousness and hospitalization period were correlating factors. But in regression analysis, we could not find a significant variable that prognosticate severe outcome. It seems that there is no relationship between the CT findings and clinical manifestations of the methamphetamine body stuffers. Severe outcomes may be observed even in the face of negative CTs.
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Beyond the CRAB symptoms: a study of presenting clinical manifestations of multiple myeloma.
Talamo, Giampaolo; Farooq, Umar; Zangari, Maurizio; Liao, Jason; Dolloff, Nathan G; Loughran, Thomas P; Epner, Elliot
2010-12-01
Although the typical clinical manifestations of multiple myeloma (MM) are summarized by the CRAB symptoms (hypercalcemia, renal insufficiency, anemia, and bone lesions), a significant proportion of patients with MM present with a variety of other clinical manifestations. We conducted a study evaluating the presenting symptoms that led to the diagnosis of MM. We conducted a retrospective review of 170 consecutive patients with MM seen at the Penn State Hershey Cancer Institute. Among patients with symptomatic MM, 74% presented with CRAB symptoms, 20% presented with non-CRAB manifestations, and 6% had both clinical features. Ten categories of non-CRAB manifestations were found, in order of decreasing frequency: neuropathy (because of spinal cord compression, nerve root compression, or peripheral neuropathy), extramedullary involvement, hyperviscosity syndrome, concomitant amyloidosis (eg, nephrotic syndrome or cardiopathy), hemorrhage/coagulopathy, systemic symptoms (eg, fever or weight loss), primary plasma cell leukemia, infections, cryoglobulinemia, and secondary gout. Kaplan-Meier estimates of survival in patients with non-CRAB manifestations did not show a significant difference from the survival of patients presenting with CRAB symptoms. Presenting symptoms of MM may be grouped in a total of 14 categories, 4 for the CRAB and 10 for the less common non-CRAB features. Grouped together, non-CRAB manifestations do not appear to confer a negative effect on the prognosis of patients with MM.
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[Association between glutathione peroxidase levels and clinical manifestations of dengue].
Rojas, Elsa Marina; Díaz-Quijano, Fredi Alexander; Coronel-Ruiz, Carolina; Martínez-Vega, Ruth Aralf; Rueda, Ernesto; Villar-Centeno, Luis Angel
2007-06-01
Glutathione peroxidase (GP) can be used as a marker of oxidative stress in infectious diseases. To evaluate the association between the levels of glutathione peroxidase (GP) and the manifestations and complications of dengue. Between April 2003 and December 2004, 161 patients with dengue were prospectively evaluated. In the first evaluation, within 48 and 96 hours of disease onset, a plasma sample was obtained to measure the GP levels. The association between GP levels, clinical manifestations and complications was evaluated during the follow up. Mean GP values were 1198 U/L (95% confidence interval 1089-1306). Values greater than 1200 U/L were associated with headache, arthralgias and increased heart rate. There was a negative association between GP levels and serum triglycerides. During follow up, patients with GP >1200 U/L had a higher frequency of spontaneous hemorrhages. In a logistic regression analysis arthralgias, fever and increased heart rate, were independently associated with levels >1200 U/L. GP levels was associated to some of the manifestations of dengue. This finding suggests that the intensity of oxidative stress can influence the clinical presentation of dengue.
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Clinical Profile of Atypical Manifestations of Dengue Fever.
Pothapregada, Sriram; Kamalakannan, Banupriya; Thulasingam, Mahalakshmy
2016-06-01
To study the clinical profile and outcome of the atypical manifestations of dengue fever in children. All children (0-12 y of age) diagnosed and confirmed as dengue fever at a tertiary care hospital at Puducherry, between the 1st of August 2012 and January 31st 2015 were reviewed retrospectively from hospital case records as per the revised World Health Organization (WHO) guidelines 2011 for dengue fever. The diagnosis was confirmed by NS1 antigen-based ELISA test or dengue serology for IgM and IgG antibodies and the data was analyzed using SPSS 16.0 statistical software. Out of 254 children admitted with dengue fever, non-severe dengue and severe dengue were seen in 62.6 % and 37.4 % respectively. Atypical manifestations were seen in 106 cases (41.7 %). Mean age of presentation was 6.9(3.3) y. M: F ratio was 1.2:1. The common manifestations of severe dengue infection were shock (37.4 %), bleeding (20.1 %) and multi-organ dysfunction (2.4 %). The most common atypical manifestations of dengue fever were lymphadenopathy (41.7 %), splenomegaly (21.2 %), biphasic fever (18.1 %), hepatitis (11.4 %), febrile diarrhea (6.3 %), refractory shock (2.4 %) and impaired consciousness (1.9 %). The other atypical manifestations present were portal hypertension, acalculous cholecystitis, appendicitis, acute respiratory distress syndrome (ARDS), myocarditis, pericardial effusion, paroxysmal supraventricular tachycardia (PSVT), myositis, acute kidney injury (AKI), hemophagocytic syndrome and disseminated intravascular coagulopathy (DIC). Platelet count did not always correlate well with the severity of bleeding. There were six deaths (2.4 %) and out of them four presented with impaired consciousness (66.6 %). The common causes for poor outcome were multiorgan failure, encephalopathy and refractory shock. The atypical manifestations of dengue fever are no more a rare entity. Clinicians should have a high index of suspicion and vigilance for atypical manifestations of
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NASA Astrophysics Data System (ADS)
Smithson, T. R.
1989-12-01
AMNIOTES (reptiles, birds and mammals) are distinguished from non-amniote tetrapods (amphibians) by the presence of complex embryonic membranes. One of these, the amnion, gives its name to the group. Very few skeletal characters distinguish amniotes from amphibians1, making it difficult to recognize early amniotes in the fossil record. The earliest amniote fossil identified so far is Hylonomus from the Westphalian (Upper Carboniferous) of Joggins, Nova Scotia2,3, (~300 Myr). I report here the discovery of a much earlier amniote skeleton from the Brigantian (Lower Carboniferous) of Scotland (~338 Myr) 4, which thus represents the earliest occurrence of amniotes in the fossil record. The specimen was collected from the East Kirkton Limestone, near Bathgate, West Lothian4-8, and is part of a unique terrestrial fauna that includes eurypterids, myriapods, scorpions and the earliest-known harvestman spider7,9, together with the earliest known temno-spondyls, a group that may include the ancestors of all living amphibians10. It will make an important contribution to our knowledge of early amniote morphology and the interrelationships of tetrapods.
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Bonciolini, Veronica; Bianchi, Beatrice; Del Bianco, Elena; Verdelli, Alice; Caproni, Marzia
2015-09-15
The dermatological manifestations associated with intestinal diseases are becoming more frequent, especially now when new clinical entities, such as Non-Celiac Gluten Sensitivity (NCGS), are identified. The existence of this new entity is still debated. However, many patients with diagnosed NCGS that present intestinal manifestations have skin lesions that need appropriate characterization. We involved 17 patients affected by NCGS with non-specific cutaneous manifestations who got much better after a gluten free diet. For a histopathological and immunopathological evaluation, two skin samples from each patient and their clinical data were collected. The median age of the 17 enrolled patients affected by NCGS was 36 years and 76% of them were females. On the extensor surfaces of upper and lower limbs in particular, they all presented very itchy dermatological manifestations morphologically similar to eczema, psoriasis or dermatitis herpetiformis. This similarity was also confirmed histologically, but the immunopathological analysis showed the prevalence of deposits of C3 along the dermo-epidermal junction with a microgranular/granular pattern (82%). The exact characterization of new clinical entities such as Cutaneous Gluten Sensitivity and NCGS is an important objective both for diagnostic and therapeutic purposes, since these are patients who actually benefit from a GFD (Gluten Free Diet) and who do not adopt it only for fashion.
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Autoimmune bullous skin diseases. Part 1: Clinical manifestations.
Kneisel, Andrea; Hertl, Michael
2011-10-01
Autoimmune bullous skin diseases are characterized by autoantibodies against adhesion molecules of the skin. Pemphigus is a disorder with an intraepidermal loss of adhesion and is characterized by fragile blisters and erosions. Pemphigus vulgaris often shows extensive lesions of the oral mucosa, while pemphigus foliaceus is commonly restricted to cutaneous involvement with puff pastry-like scale formation. Paraneoplastic pemphigus is obligatorily associated with malignancies and often presents as hemorrhagic stomatitis with multiforme-like exanthems. IgA pemphigus typically presents with pustules and annular plaques but not with mucosal involvement. The clinical spectrum of the pemphigoids includes tense blisters, urticarial plaques, and prurigo- like eczematous lesions. Pemphigoid gestationis mostly occurs during the last trimester of pregnancy and mucous membrane pemphigoid primarily involves the oral mucosa and conjunctivae and leads to scarring. Linear IgA bullous dermatosis manifests with tense blisters in a "cluster of jewels"-like pattern in childhood and is more heterogeneous in adulthood. Classical epidermolysis bullosa acquisita shows extensive skin fragility. Dermatitis herpetiformis is associated with gluten-sensitive enteropathy and manifests clinically with severe itching and papulovesicles on the extensor surfaces of the extremities and the lumbosacral area. The intention of the review is to demonstrate the heterogeneous clinical spectrum of autoimmune bullous disorders. © The Authors • Journal compilation © Blackwell Verlag GmbH, Berlin.
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Clinical Manifestations of Senecavirus A Infection in Neonatal Pigs, Brazil, 2015
Leme, Raquel A.; Oliveira, Thalita E.S.; Alcântara, Brígida K.; Headley, Selwyn A.; Alfieri, Alice F.; Yang, Ming
2016-01-01
We identified new clinical manifestations associated with Senecavirus A infection in neonatal piglets in Brazil in 2015. Immunohistochemical and molecular findings confirmed the association of Senecavirus A with these unusual clinical signs and more deaths. Other possible disease agents investigated were not associated with these illnesses. PMID:27315157
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Clinical Manifestations and Distribution of Cutaneous Leishmaniasis in Pakistan
Afghan, Abaseen Khan; Kassi, Masoom; Kasi, Pashtoon Murtaza; Ayub, Adil; Kakar, Niamatullah; Marri, Shah Muhammad
2011-01-01
Cutaneous leishmaniasis (CL) is a rising epidemic in Pakistan. It is a major public health problem in the country especially alongside regions bordering the neighboring Afghanistan and cities that have had the maximum influx of refugees. The purpose of our paper is to highlight the diverse clinical manifestations of the disease seen along with the geographic areas affected, where the hosts are particularly susceptible. This would also be helpful in presenting the broad spectrum of the disease for training of health care workers and help in surveillance of CL in the region. The increased clinical diversity and the spectrum of phenotypic manifestations noted underscore the fact that the diagnosis of CL should be not only considered when dealing with common skin lesions, but also highly suspected by dermatologists and even primary care physicians even when encountering uncommon pathologies. Hence, we would strongly advocate that since most of these patients present to local health care centers and hospitals, primary care practitioners and even lady health workers (LHWs) should be trained in identification of at least the common presentations of CL. PMID:22174721
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Moon, Shinje; Hong, Yeongseon; Hwang, Kyu-Jam; Kim, Suyeon; Eom, Jihye; Kwon, Donghyok; Park, Ji-Hyuk; Youn, Seung-Ki; Sohn, Aeree
2015-01-01
Lyme borreliosis is one of the most common tick-borne infections in the northern hemisphere. However, the epidemiological features and clinical manifestations of this disease in Korea are unknown. The present study is the first to investigate the characteristics of Lyme borreliosis in Korea. We traced suspected cases of Lyme borreliosis during the period 2005-2012. Of the 16 identified patients with the disease, 11 had acquired autochthonous infection within Korea, while 5 patients were infected outside Korea. The history of past exposure was investigated in 8 of the 11 patients with autochthonous infection; 5 of these 8 patients (62.5%) were suspected to have acquired the infection in the northeastern alpine region. Clinically, of 11 patients with autochthonous infection, 6 (54.5%) showed early skin manifestations, 4 (36.4%) showed neurological manifestations, and 1 (9.1%) showed acrodermatitis chronica atrophicans. In conclusion, Lyme borreliosis could be endemic in the northeastern alpine region of Korea, and neurological and early skin manifestations are likely to be the major clinical characteristics of autochthonous Lyme borreliosis in Korea.
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Oral Manifestations in a Renal Osteodystrophy Patient - A Case Report with Review of Literature
Nisha V, Aarthi; GS, Asokan; CA, Prakash; MM, Varadharaja
2014-01-01
Renal Osteodystrophy (ROD) is a common complication of chronic renal disease (CRD) and is the part of a broad spectrum of disorders of mineral metabolism that occurs in the clinical setting. It occurs early in the course of chronic renal failure and progresses as the kidney function deteriorates. It is an osseous alteration believed to arise from increased parathyroid function associated with inappropriate calcium, phosphorus and vitamin D metabolism. Involvement of the jaws is common and radiographic alterations are often one of the earliest signs of chronic renal failure. Herein, reporting a case of Chronic Renal Failure (Bilateral Grade I Neuropathy) with ROD presenting oral manifestations in an 11-year -old male child. PMID:25302278
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Oral manifestations in a renal osteodystrophy patient - a case report with review of literature.
J, Parthiban; Nisha V, Aarthi; Gs, Asokan; Ca, Prakash; Mm, Varadharaja
2014-08-01
Renal Osteodystrophy (ROD) is a common complication of chronic renal disease (CRD) and is the part of a broad spectrum of disorders of mineral metabolism that occurs in the clinical setting. It occurs early in the course of chronic renal failure and progresses as the kidney function deteriorates. It is an osseous alteration believed to arise from increased parathyroid function associated with inappropriate calcium, phosphorus and vitamin D metabolism. Involvement of the jaws is common and radiographic alterations are often one of the earliest signs of chronic renal failure. Herein, reporting a case of Chronic Renal Failure (Bilateral Grade I Neuropathy) with ROD presenting oral manifestations in an 11-year -old male child.
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[Clinical manifestations related to kitchen biomass smoke in African women].
Kouassi, B; Horo, K; Ahui, B; Godé, C; N'Guessan, L; Anon, J-C; Koffi, N; Ngom, A; Aka-Danguy, E; Koffi, M O; Djè Bi, I H; Ano, A
2012-03-01
Fires of wood and charcoal play an essential part in the cooking of food in Africa. These fires emit thick smoke that has definite health consequences. To determine the clinical manifestations related to kitchen smoke and to identify the type of fire most often incriminated. It was a transverse study comparing the clinical features in women using three types of fire: wood, charcoal and gas. We questioned 200 women in each group who used one type of fire exclusively for five days a week for at least five years. Clinical manifestations associated with the smoke were reported in all the women using wood as opposed to 98.5% using charcoal and 45.5% using gas. More than 80% had physical signs. These comprised 89.1% upper respiratory and 77% pulmonary signs. Upper respiratory signs were the most common, mainly sneezing and nasal obstruction. At the pulmonary level, a predominance of signs was found in women using wood fires (47.3%) and charcoal (36.2%), the difference being statistically significant. The signs included chronic cough, chest pain and dyspnoea. Wheezes were found in 15% of the women. Cooking smoke exposes women to complications which are most frequently associated with the use of wood or charcoal. Copyright © 2012 Elsevier Masson SAS. All rights reserved.
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Clinical and immunological manifestations in 151 SLE patients living in Dubai.
AlSaleh, J; Jassim, V; ElSayed, M; Saleh, N; Harb, D
2008-01-01
To gain better understanding of systemic lupus erythematosus (SLE) in Dubai we studied the clinical and immunological manifestations in a cohort of 151 patients attended Rheumatology Clinic in Dubai Hospital between January 2002 and January 2007. We found that the female to male ratio was 20.5:1, with a mean age of 35.5 years (0.9). The mean age at disease onset was 28.9 years (0.8) and mean disease duration 6.7 years (0.4). Five-year survival rate in our cohort was 94%. The commonest clinical manifestations in this cohort were arthritis (88%), haematological abnormalities (61.6%), and malar rash (60.3%). Leucopenia, fever, hair loss and proteinuria were observed in approximately half of the patients. Anaemia was found in 44.3% but only 9.9% had haemolytic anaemia. Photosensitive rash was seen in 43% of patients. Approximately one-third of the patients had serositis and mouth ulcers, 30.5 and 27.2% respectively. Vasculitis was observed in 19.2% of patients. Neuropsychiatric manifestations (15.9%), discoid lupus lesions (12.6%), and brain infarcts (13.2%) were infrequent. Subacute cutaneous lupus (6%) was also uncommon. Anti-nuclear antibodies were detected in 98%, anti-double stranded DNA antibodies in 88.7%, anti-Sm antibodies in 19.7%, anti-RNP in 40.4%, anti-Ro antibodies in 52.3% and anti-La antibodies in 19.8%. Anti-cardiolipin IgM and IgG were detected in 25.3 and 22.4%, respectively. This study suggests that Arabs with SLE residing in Dubai have comparable clinical features to their counterparts in other Arab countries and Western countries. The high prevalence of positive anti-Ro antibodies among our Arab patients probably reflects a character, that is, commonly seen in SLE patients of Middle East origin.
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Earliest signs of life on land preserved in ca. 3.5 Ga hot spring deposits
Djokic, Tara; Van Kranendonk, Martin J.; Campbell, Kathleen A.; Walter, Malcolm R.; Ward, Colin R.
2017-01-01
The ca. 3.48 Ga Dresser Formation, Pilbara Craton, Western Australia, is well known for hosting some of Earth’s earliest convincing evidence of life (stromatolites, fractionated sulfur/carbon isotopes, microfossils) within a dynamic, low-eruptive volcanic caldera affected by voluminous hydrothermal fluid circulation. However, missing from the caldera model were surface manifestations of the volcanic-hydrothermal system (hot springs, geysers) and their unequivocal link with life. Here we present new discoveries of hot spring deposits including geyserite, sinter terracettes and mineralized remnants of hot spring pools/vents, all of which preserve a suite of microbial biosignatures indicative of the earliest life on land. These include stromatolites, newly observed microbial palisade fabric and gas bubbles preserved in inferred mineralized, exopolymeric substance. These findings extend the known geological record of inhabited terrestrial hot springs on Earth by ∼3 billion years and offer an analogue in the search for potential fossil life in ancient Martian hot springs. PMID:28486437
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Monogenic Autoinflammatory Diseases: Concept And Clinical Manifestations
De Jesus, Adriana Almeida; Goldbach-Mansky, Raphaela
2013-01-01
The objectives of this review are to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary “periodic fever syndromes”, familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) 6. very rare conditions presenting with autoinflammation and immunodeficiency. PMID:23711932
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Anaphylaxis as a clinical manifestation of clonal mast cell disorders.
Matito, A; Alvarez-Twose, I; Morgado, J M; Sánchez-Muñoz, L; Orfao, A; Escribano, L
2014-08-01
Clonal mast cell disorders comprise a heterogeneous group of disorders characterized by the presence of gain of function KIT mutations and a constitutively altered activation-associated mast cell immunophenotype frequently associated with clinical manifestations related to the release of mast cells mediators. These disorders do not always fulfil the World Health Organization (WHO)-proposed criteria for mastocytosis, particularly when low-sensitive diagnostic approaches are performed. Anaphylaxis is a frequent presentation of clonal mast cell disorders, particularly in mastocytosis patients without typical skin lesions. The presence of cardiovascular symptoms, e.g., hypotension, occurring after a hymenoptera sting or spontaneously in the absence of cutaneous manifestations such as urticaria is characteristic and differs from the presentation of anaphylaxis in the general population without mastocytosis.
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Clinical Manifestations among Children with Chronic Functional Constipation
Dehghani, Seyed Mohsen; Kulouee, Niloofar; Honar, Naser; Imanieh, Mohammad-Hadi; Haghighat, Mahmood; Javaherizadeh, Hazhir
2015-01-01
BACKGROUND Constipation is one of the most frequent cause of patient visits to pediatric gastroenterology clinics. Early diagnosis and treatment is important. There are few studies about clinical manifestations of constipation in children. We aimed to find the relative frequency of gastrointestinal manifestations of constipation among constipated children. METHODS This cross-sectional study was carried out on children aged < 18 years old with chronic functional constipation referred to Imam Reza Clinic of Shiraz University of Medical Sciences. Children with organic causes of chronic constipation were excluded from study. Rome III criteria were used for defining constipation. The duration of study was 1 year starting from September 2010. Abdominal pain, fecal mass, rectal bleeding, anorexia, fecal soiling, retentive posture, withholding behavior, anal fissure, and peri-anal erythema were recorded for each case based on history and physical examination. Data were analyzed using SPSS software, version 13.0 (Chicago, IL, USA). RESULTS Of 222 children with functional constipation, 124(55.9%) were girls and 98 (44.1%) were boys with a mean ± SD age of 5±3.12 years. The mean ± SD duration of constipation was 2.2±1.9 years. Large and hard stool was present in 93.7% of the patients. Painful defecation and withholding behavior were seen in 92.3% and 91.9% of the patients, respectively. Fecal impaction was more frequent among boys compared with girls (p<0.01). Fecal soiling was present in 40.8% of the boys and 28.2% of the girls (p=0.04). CONCLUSION Large and hard stool, painful defecation and withholding behavior were the most frequent signs or symptoms among children with chronic functional constipation. Fresh rectal bleeding and anal fissure were the least frequent signs and symptoms in this group. PMID:25628851
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Clinical Manifestations among Children with Chronic Functional Constipation.
Dehghani, Seyed Mohsen; Kulouee, Niloofar; Honar, Naser; Imanieh, Mohammad-Hadi; Haghighat, Mahmood; Javaherizadeh, Hazhir
2015-01-01
BACKGROUND Constipation is one of the most frequent cause of patient visits to pediatric gastroenterology clinics. Early diagnosis and treatment is important. There are few studies about clinical manifestations of constipation in children. We aimed to find the relative frequency of gastrointestinal manifestations of constipation among constipated children. METHODS This cross-sectional study was carried out on children aged < 18 years old with chronic functional constipation referred to Imam Reza Clinic of Shiraz University of Medical Sciences. Children with organic causes of chronic constipation were excluded from study. Rome III criteria were used for defining constipation. The duration of study was 1 year starting from September 2010. Abdominal pain, fecal mass, rectal bleeding, anorexia, fecal soiling, retentive posture, withholding behavior, anal fissure, and peri-anal erythema were recorded for each case based on history and physical examination. Data were analyzed using SPSS software, version 13.0 (Chicago, IL, USA). RESULTS Of 222 children with functional constipation, 124(55.9%) were girls and 98 (44.1%) were boys with a mean ± SD age of 5±3.12 years. The mean ± SD duration of constipation was 2.2±1.9 years. Large and hard stool was present in 93.7% of the patients. Painful defecation and withholding behavior were seen in 92.3% and 91.9% of the patients, respectively. Fecal impaction was more frequent among boys compared with girls (p<0.01). Fecal soiling was present in 40.8% of the boys and 28.2% of the girls (p=0.04). CONCLUSION Large and hard stool, painful defecation and withholding behavior were the most frequent signs or symptoms among children with chronic functional constipation. Fresh rectal bleeding and anal fissure were the least frequent signs and symptoms in this group.
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Clinical manifestations of reported Lyme disease cases in Ontario, Canada: 2005–2014
Nelder, Mark P.; Russell, Curtis; Li, Ye; Badiani, Tina; Sander, Beate; Sider, Douglas; Patel, Samir N.
2018-01-01
Lyme disease (LD) is the most common vector-borne disease in Ontario, Canada. We describe the epidemiology and clinical manifestations of LD in Ontario and examine trends in the incidence of non-disseminated and disseminated LD. LD surveillance data from the integrated Public Health Information System (iPHIS) from 2005–2014 were mapped to symptoms according to syndrome groups (erythema migrans (EM), flu-like, cardiac, neurologic or arthritic) and disease stages (early localized, early disseminated or late disseminated). During the study period, 1,230 cases due to Borrelia burgdoferi were reported in Ontario with annual incidence rates ranging from 0.32 (2006) to 2.16 (2013) cases per 100,000 population. Seventy percent of cases had EM and the proportion of cases with EM increased over time. Other clinical manifestations included flu-like (75%), arthritic (42%), neurologic (41%) and cardiac (6%) symptoms. Early localized disease (n = 415) manifested with EM (87%) and flu-like (57%) symptoms; early disseminated disease (n = 216) manifested with neurologic (94%), cardiac (10%) and EM (63%) symptoms; and late disseminated disease (n = 475) manifested with EM (62%), neurologic (55%), cardiac (9%), and arthritic symptoms (i.e., arthralgia (93%) and arthritis (7%)). Early localized and early disseminated cases (88% each) occurred primarily from May through September, compared to late disseminated cases (81%). The proportion of cases reported to public health within 30 days of illness onset increased during the study period, while the proportion of cases reported within 1–3 months and >3 months decreased. Geographical variations characterized by higher incidence of early localized disease and earlier public health notification (within 30 days of illness onset) occurred in regions with established or recently established LD risk areas, while later public health notification (>3 months after illness onset) was reported more frequently in regions with recently established
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Clinical Features and Extraintestinal Manifestations of Crohn Disease in Children
Lee, Young Ah; Chun, Peter; Hwang, Eun Ha; Mun, Sang Wook; Lee, Yeoun Joo
2016-01-01
Purpose The aim of this study was to investigate the clinical features and extraintestinal manifestations (EIMs) of Crohn disease (CD) in Korean pediatric patients. Methods The medical records of 73 children diagnosed with CD were retrospectively reviewed. Data regarding baseline demographic and clinical characteristics, including CD phenotype at diagnosis based on the Montreal classification, and clinical features and course of EIMs were investigated. Results Fifty-two (71.2%) of the patients were males. The mean age of the patients was 12.5 years. The mean follow-up period was 3.4 years. The disease location was ileal in 3 (4.1%) of the patients, colonic in 13 (17.8%), ileocolonic in 56 (76.7%). The clinical behavior was inflammatory in 62 (84.9%) of the patients, stricturing in 8 (11.0%), and penetrating in 3 (4.1%). Perianal abscesses or fistulas were found in 37 (50.7%) of the patients. EIMs observed during the study period were anal skin tag in 25 patients (34.2%), hypertransaminasemia in 20 (27.4%), peripheral arthritis in 2 (2.7%), erythema nodosum in 2 (2.7%), vulvitis in 1 (1.4%), uveitis in 1 (1.4%), and pulmonary thromboembolism in 1 (1.4%). Conclusion Perianal diseases and manifestations were present in more than half of Korean pediatric CD patients at diagnosis. Inspection of the anus should be mandatory in Korean children with suspicious CD, as perianal fistulas, abscesses, and anal skin tags may be the first clue to the diagnosis of CD. PMID:28090468
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[Free radicals in the origin and clinical manifestation of Down's syndrome].
Arbuzova, S B
1996-01-01
The high level of free radicals and antioxidant protection disbalancing cause the chromosome nondisjunction in meiosis, appearance of trisomy 21 and fetuses with Down's syndrome, age-dependent pathology, of parent's mosaic clone, clinical manifestations of the syndrome, diseases in relatives, recurrent cases of trisomy 21. The comparative analysis of clinical traits of Down's syndrome and pathological changes in families with after-effects of radiation exposure was carried out. The factors causing an increase in the level of free radicals were considered.
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Arango-Dávila, Cesar A; Rincón-Hoyos, Hernán G
A high proportion of depressive disorders are accompanied by anxious manifestations, just as depression and anxiety often present with many painful manifestations, or conversely, painful manifestations cause or worsen depressive and anxious expressions. There is increasingly more evidence of the pathophysiological, and neurophysiological and technical imaging similarity of pain and depression. Narrative review of the pathophysiological and clinical aspects of depression and chronic pain comorbidity. Research articles are included that emphasise the most relevant elements related to understanding the pathophysiology of both manifestations. The pathological origin, physiology and clinical approach to these disorders have been more clearly established with the latest advances in biochemical and cellular techniques, as well as the advent of imaging technologies. This information is systematised with comprehensive images and clinical pictures. The recognition that the polymorphism of inflammation-related genes generates susceptibility to depressive manifestations and may modify the response to antidepressant treatments establishes that the inflammatory response is not only an aetiopathogenic component of pain, but also of stress and depression. Likewise, the similarity in approach with images corroborates not only the structural, but the functional and pathophysiological analogy between depression and chronic pain. Knowledge of depression-anxiety-chronic pain comorbidity is essential in the search for effective therapeutic interventions. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.
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Santiago-Casas, Yesenia; Vilá, Luis M.; McGwin, Gerald; Cantor, Ryan S.; Petri, Michelle; Ramsey-Goldman, Rosalind; Reveille, John D.; Kimberly, Robert P.; Alarcón, Graciela S.; Brown, Elizabeth E.
2013-01-01
Objective To determine the clinical manifestations and disease damage associated with discoid rash in a large multiethnic systemic lupus erythematosus (SLE) cohort. Methods SLE patients (per ACR criteria), age ≥ 16 years, disease duration ≤ 10 years at enrollment, and defined ethnicity (African American, Hispanic or Caucasian), from a longitudinal cohort were studied. Socioeconomic-demographic features, clinical manifestations and disease damage [as per the Systemic Lupus International Collaborating Clinics Damage Index (SDI)] were determined. The association of DLE with clinical manifestations and disease damage was examined using multivariable logistic regression. Results A total of 2,228 SLE patients were studied. The mean (standard deviation, SD) age at diagnosis was 34.3 (12.8) years and the mean (SD) disease duration was 7.9 (6.0) years; 91.8% were women. Discoid lupus was observed in 393 (17.6%) of patients with SLE. In the multivariable analysis, patients with discoid lupus were more likely to be smokers and of African-American ethnicity, and to have malar rash, photosensitivity, oral ulcers, leukopenia and vasculitis. DLE patients were less likely to be of Hispanic (from Texas) ethnicity, and to have arthritis, end-stage renal disease (ESRD), and antinuclear, anti-dsDNA and anti-phospholipid antibodies. Patients with DLE had more damage accrual, particularly chronic seizures, scarring alopecia, scarring of the skin, and skin ulcers. Conclusion In this cohort of SLE patients, discoid lupus was associated with several clinical features including serious manifestations such as vasculitis and chronic seizures. PMID:22190480
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Karateev, A E; Movsiian, A E; Anan'eva, M M; Radenska-Lopovok, S G
2014-01-01
Oesophageal lesion is the commonest visceral manifestation of systemic scleroderma (SSD) affecting the quality of life and fraught with serious complications. The aim of this study was to evaluate clinical, endoscopic andmorphological manifestations of oesophageal lesion in systemic scleroderma and its relationships with other clinical symptoms and pharmacotherapy of the disease. 479 patients with SSD (93.7% women, 6.3% men, mean age 48.7 +/- 19.2 yr). All of them underwent EGDS in 2005-2010. 123 patients were examined for the detection of Barrett's oesophagus (BO), total screening regardless of complaints was conducted in 2010. Control group included 1018 age and sex-matched patients with RA who underwent EGDS in 2008-2009. Oesophageal lesions occurred much more frequently in SSD than in RA. Oesophageal symptoms were documented in 70.0 and 29.9% cases, non-erosive oesopahgitis in 28.8 and 1.5%, erosive esophagitis in 22.5 and 2.2% ulcers in 0.8 and 0% (p < 0.001). BO manifested as intestinal metaplasia (histological study of mucosal biopsy) was found in 30 SSD patients (4.2%). Screening revealed BO in 8.9% of the patients. The development of erosive oesophagitis was unrelated to the age of the patients, duration of the disease and its form (localized or diffusive), lung pathology or Sjogren's syndrome. Cytotoxic medicines significantly increased the frequency of erosive oesophagitis, it tended to increase under effect of NSAID and low doses of aspirin. Long-term intake of PPI did not reduce the risk of oesophagitis and BO. Half of the patients with SSD have oesophagitis. Over 20% of them suffer its complications (erosion and ulcers) and 9% have BO. All such patients need endoscopic study ofoesophagus regardless of clinical symptoms.
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Clinical Manifestations of Human Brucellosis: A Systematic Review and Meta-Analysis
Dean, Anna S.; Crump, Lisa; Greter, Helena; Hattendorf, Jan; Schelling, Esther; Zinsstag, Jakob
2012-01-01
Background The objectives of this systematic review, commissioned by WHO, were to assess the frequency and severity of clinical manifestations of human brucellosis, in view of specifying a disability weight for a DALY calculation. Methods/Principal Findings Thirty three databases were searched, with 2,385 articles published between January 1990–June 2010 identified as relating to human brucellosis. Fifty-seven studies were of sufficient quality for data extraction. Pooled proportions of cases with specific clinical manifestations were stratified by age category and sex and analysed using generalized linear mixed models. Data relating to duration of illness and risk factors were also extracted. Severe complications of brucellosis infection were not rare, with 1 case of endocarditis and 4 neurological cases per 100 patients. One in 10 men suffered from epididymo-orchitis. Debilitating conditions such as arthralgia, myalgia and back pain affected around half of the patients (65%, 47% and 45%, respectively). Given that 78% patients had fever, brucellosis poses a diagnostic challenge in malaria-endemic areas. Significant delays in appropriate diagnosis and treatment were the result of health service inadequacies and socioeconomic factors. Based on disability weights from the 2004 Global Burden of Disease Study, a disability weight of 0.150 is proposed as the first informed estimate for chronic, localised brucellosis and 0.190 for acute brucellosis. Conclusions This systematic review adds to the understanding of the global burden of brucellosis, one of the most common zoonoses worldwide. The severe, debilitating, and chronic impact of brucellosis is highlighted. Well designed epidemiological studies from regions lacking in data would allow a more complete understanding of the clinical manifestations of disease and exposure risks, and provide further evidence for policy-makers. As this is the first informed estimate of a disability weight for brucellosis, there is a
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Enzootic origins for clinical manifestations of Lyme borreliosis.
Jahfari, Setareh; Krawczyk, Aleksandra; Coipan, E Claudia; Fonville, Manoj; Hovius, Joppe W; Sprong, Hein; Takumi, Katsuhisa
2017-04-01
Both early localized and late disseminated forms of Lyme borreliosis are caused by Borrelia burgdorferi senso lato. Differentiating between the spirochetes that only cause localized skin infection from those that cause disseminated infection, and tracing the group of medically-important spirochetes to a specific vertebrate host species, are two critical issues in disease risk assessment and management. Borrelia burgdorferi senso lato isolates from Lyme borreliosis cases with distinct clinical manifestations (erythema migrans, neuroborreliosis, acrodermatitis chronica atrophicans, and Lyme arthritis) and isolates from Ixodes ricinus ticks feeding on rodents, birds and hedgehogs were typed to the genospecies level by sequencing part of the intergenic spacer region. In-depth molecular typing was performed by sequencing eight additional loci with different characteristics (plasmid-bound, regulatory, and housekeeping genes). The most abundant genospecies and genotypes in the clinical isolates were identified by using odds ratio as a measure of dominance. Borrelia afzelii was the most common genospecies in acrodermatitis patients and engorged ticks from rodents. Borrelia burgdorferi senso stricto was widespread in erythema migrans patients. Borrelia bavariensis was widespread in neuroborreliosis patients and in ticks from hedgehogs, but rare in erythema migrans patients. Borrelia garinii was the dominant genospecies in ticks feeding on birds. Spirochetes in ticks feeding on hedgehogs were overrepresented in genotypes of the plasmid gene ospC from spirochetes in erythema migrans patients. Spirochetes in ticks feeding on hedgehogs were overrepresented in genotypes of ospA from spirochetes in acrodermatitis patients. Spirochetes from ticks feeding on birds were overrepresented in genotypes of the plasmid and regulatory genes dbpA, rpoN and rpoS from spirochetes in neuroborreliosis patients. Overall, the analyses of our datasets support the existence of at least three
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Functional speech disorders: clinical manifestations, diagnosis, and management.
Duffy, J R
2016-01-01
Acquired psychogenic or functional speech disorders are a subtype of functional neurologic disorders. They can mimic organic speech disorders and, although any aspect of speech production can be affected, they manifest most often as dysphonia, stuttering, or prosodic abnormalities. This chapter reviews the prevalence of functional speech disorders, the spectrum of their primary clinical characteristics, and the clues that help distinguish them from organic neurologic diseases affecting the sensorimotor networks involved in speech production. Diagnosis of a speech disorder as functional can be supported by sometimes rapidly achieved positive outcomes of symptomatic speech therapy. The general principles of such therapy are reviewed. © 2016 Elsevier B.V. All rights reserved.
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[Pathological features and clinical manifestations in 313 children with nephropathy under 6].
Dang, Xi-qiang; Cao, Yan; Yi, Zhu-wen; Xu, Zi-chuan; He, Xiao-jie; Huang, Dan-lin
2008-03-01
To explore the relationship between pathological features and clinical manifestations in children with nephropathy under 6 years old. Renal biopsy by rapid percutaneous puncturation was performed on 313 children under 6 who were all diagnosed clinically as kidney diseases of 14 different kinds. The specimens were divided into 3 parts for microscope, electron microscope and immuno fluorescence examination respectively and processed by HE, PAS, PASM, and Masson staining. Immunofluorescence was used to detect the deposition of IgG, IgM, IgA, C3, C4, C1q, and Fb in the renal tissues. Additional examinations were done to detect HBs-Ag, HBeAg and HBcAg deposition in some cases with positive serum HBs-Ag. Altogether 290 of the specimens (290/313, 92.65%) were examined by electron microscope. All the renal biopsy performances were successful. The clinical manifestations comprised of persistent haematuria (32.92%, 103/313), idiopathic nephritic syndrome (26.1%, 82/313), acute nephritic syndrome (20.14%, 63/313), Henoch Schonlein purpura nephritis (8.32%, 26/313), HBV-nephritis (4.79%, 15/313), and isolated proteinuria (2.56%, 8/313). The main pathological patterns of glomerular disease were identified as mesangial proliferation (51.75%, 162/313), IgM nephropathy (8.31%,26/313), minor and minimal change (7.99%, 25/313), IgA nephropathy (7.35%, 23/313), endocapillary proliferative glomerulonephritis (5.11%, 16/313), focus segmental glomerulosclerosis (4.47%, 14/313), thin basement membrane nephropathy (4.47%, 14/313), and membrane nephropathy (4.47%, 14/313). Alport syndrome, congenital nephrotic syndrome, and thin basement membrane nephropathy can be diagnosed by electron microscope, white IgA nephropathy, IgM nephropathy and C1q nephropathy by immunopathology. Similar clinical manifestations may differ in the pathology and the clinical features of one pathological diagnosis may vary greatly. Renal biopsy is of great help to the diagnosis, treatment and the prognosis
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Clinical diagnostic dilemma of intracranial germinoma manifesting as wide skull base extension.
Zhou, Zhi-hang; Zhang, Hai-bo; Rao, Jun; Bian, Xiu-wu
2014-09-01
The aims of this study were to present an uncommon intracranial germinoma manifesting as skull base extension and analyze its clinical characteristics to give valuable insight into such uncommon radiologic variant. This is a clinical study of a 15-year-old girl with intracranial germinoma manifesting as skull base extension. Clinical characteristics, magnetic resonance imaging scan observations, pathologic findings, and flow of the treatment procedure were presented and analyzed. She had a 5-month history of diuresis and diplopia. magnetic resonance imaging observation displayed a neoplasm located in the right-side central skull base and suprasellar area with wide extension into the cavernous sinus, intraorbital region, ethmoidal sinus, sphenoid sinus, and pituitary fossa. After administration of contrast medium, strong and heterogeneous enhancement of the mass was observed, with a dural tail sign along the right cerebellar tentorial. Right pterional approach was performed, and intraoperative histologic examination suspected the diagnosis of germinoma; partial resection was achieved, and postoperative radiotherapy was administered. Cranial nerve palsy improved greatly 6 months postoperatively. Although highly unusual, germinoma should be included in the differential diagnosis of all masses with extension along the midline region of skull base, especially when it happens in young female patients.
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Hollm-Delgado, Maria-Graciela; Allard, Robert; Pilon, Pierre A.
2005-01-01
We identified 306 invasive group A streptococcal infections (IGASI) by passive population-based surveillance in Montreal, Canada, from 1995 to 2001. The average yearly reported incidence was 2.4 per 100,000 persons, with a 14% death rate. Among clinical manifestations, incidence of pneumonia increased from 0.06 per 100,000 in 1995 to 0.50 per 100,000 in 2000. Over a span of 7 years, the odds of developing pneumonia increased (odds ratio [OR] = 1.21, 95% confidence interval [CI] 1.0–1.5), while they decreased for soft-tissue infections (OR = 0.86, 95% CI 0.7–1.0). Serotypes M1 and M3 accounted for 30% of IGASI. However, neither serotype was significantly associated with specific clinical manifestations, which suggests that manifestation development among IGASI might be attributable to host or environmental factors rather than the pathogen. In our study, these factors included age, gender, underlying medical conditions, and living environment, yet none explained temporal changes in risk for pneumonia and soft-tissue infections. PMID:15705326
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Atypical Clinical Manifestations of Graves' Disease: An Analysis in Depth
Hegazi, Mohamed Osama; Ahmed, Sherif
2012-01-01
Over the past few decades, there has been an increase in the number of reports about newly recognized (atypical or unusual) manifestations of Graves' disease (GD), that are related to various body systems. One of these manifestations is sometimes the main presenting feature of GD. Some of the atypical manifestations are specifically related to GD, while others are also similarly seen in patients with other forms of hyperthyroidism. Lack of knowledge of the association between these findings and GD may lead to delay in diagnosis, misdiagnosis, or unnecessary investigations. The atypical clinical presentations of GD include anemia, vomiting, jaundice, and right heart failure. There is one type of anemia that is not explained by any of the known etiological factors and responds well to hyperthyroidism treatment. This type of anemia resembles anemia of chronic disease and may be termed GD anemia. Other forms of anemia that are associated with GD include pernicious anemia, iron deficiency anemia of celiac disease, and autoimmune hemolytic anemia. Vomiting has been reported as a presenting feature of Graves' disease. Some cases had the typical findings of hyperthyroidism initially masked, and the vomiting did not improve until hyperthyroidism has been detected and treated. Hyperthyroidism may present with jaundice, and on the other hand, deep jaundice may develop with the onset of overt hyperthyroidism in previously compensated chronic liver disease patients. Pulmonary hypertension is reported to be associated with GD and to respond to its treatment. GD-related pulmonary hypertension may be so severe to produce isolated right-sided heart failure that is occasionally found as the presenting manifestation of GD. PMID:22132347
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Granulomatous slack skin. Histopathology diagnosis preceding clinical manifestations by 12 years.
Goldsztajn, Karen O; Moritz Trope, Beatriz; Ribeiro Lenzi, Maria Elisa; Cuzzi, Tullia; Ramos-E-Silva, Marcia
2012-12-31
Granulomatous slack skin is a very rare subtype of T-cell cutaneous lymphoma, characterized by the slow development of cutaneous sagging, especially on flexural areas. Its behavior is indolent and the treatment, in the majority of cases, disappointing. We report a 54-year-old black patient with granulomatous slack skin, who at the beginning of the investigation showed intense xeroderma and generalized lymph node enlargement. The diagnosis was established based on histopathologic findings long before the disease's characteristic clinical presentation appeared. During the twelve years of follow-up, the clinical manifestation evolved to marked skin looseness, most predominant in flexural regions, illustrating the clinical hallmark of granulomatous slack skin, long after first histological abnormalities were observed.
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Psychogenic dysphonia: diversity of clinical and vocal manifestations in a case series.
Martins, Regina Helena Garcia; Tavares, Elaine Lara Mendes; Ranalli, Paula Ferreira; Branco, Anete; Pessin, Adriana Bueno Benito
2014-01-01
Psychogenic dysphonia is a functional disorder with variable clinical manifestations. To assess the clinical and vocal characteristics of patients with psychogenic dysphonia in a case series. The study included 28 adult patients with psychogenic dysphonia, evaluated at a University hospital in the last ten years. Assessed variables included gender, age, occupation, vocal symptoms, vocal characteristics, and videolaryngostroboscopic findings. 28 patients (26 women and 2 men) were assessed. Their occupations included: housekeeper (n=17), teacher (n=4), salesclerk (n=4), nurse (n=1), retired (n=1), and psychologist (n=1). Sudden symptom onset was reported by 16 patients and progressive symptom onset was reported by 12; intermittent evolution was reported by 15; symptom duration longer than three months was reported by 21 patients. Videolaryngostroboscopy showed only functional disorders; no patient had structural lesions or changes in vocal fold mobility. Conversion aphonia, skeletal muscle tension, and intermittent voicing were the most frequent vocal emission manifestation forms. In this case series of patients with psychogenic dysphonia, the most frequent form of clinical presentation was conversion aphonia, followed by musculoskeletal tension and intermittent voicing. The clinical and vocal aspects of 28 patients with psychogenic dysphonia, as well as the particularities of each case, are discussed. Copyright © 2014 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.
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Alharthy, Nesrin; Al Queflie, Sulaiman; Alyousef, Khalid; Yunus, Faisel
2015-01-01
Computed tomography (CT) used in pediatric pediatrics brain injury (TBI) to ascertain neurological manifestations. Nevertheless, this practice is associated with adverse effects. Reports in the literature suggest incidents of morbidity and mortality in children due to exposure to radiation. Hence, it is found imperative to search for a reliable alternative. The aim of this study is to find a reliable clinical alternative to detect an intracranial injury without resorting to the CT. Retrospective cross-sectional study was undertaken in patients (1-14 years) with blunt head injury and having a Glasgow Coma Scale (GCS) of 13-15 who had CT performed on them. Using statistical analysis, the correlation between clinical examination and positive CT manifestation is analyzed for different age-groups and various mechanisms of injury. No statistically significant association between parameteres such as Loss of Consciousness, 'fall' as mechanism of injury, motor vehicle accidents (MVA), more than two discrete episodes of vomiting and the CT finding of intracranial injury could be noted. Analyzed data have led to believe that GCS of 13 at presentation is the only important clinical predictor of intracranial injury. Retrospective data, small sample size and limited number of factors for assessing clinical manifestation might present constraints on the predictive rule that was derived from this review. Such limitations notwithstanding, the decision to determine which patients should undergo neuroimaging is encouraged to be based on clinical judgments. Further analysis with higher sample sizes may be required to authenticate and validate findings.
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NASA Astrophysics Data System (ADS)
Putranti, A.; Asmarawati, T. P.; Rachman, B. E.; Hadi, U.; Nasronudin
2018-03-01
The purpose of this study was to determine the characteristics of HIV/AIDS patients with oral candidiasis as its clinical manifestation at Airlangga University Hospital Surabaya. This is a descriptive analytic research with cross-sectional design using Chi-Square statistic test. Samples of this study consist of 34 patients using total sampling methods. Those patients were all HIV/AIDS infected patients with oral candidiasis clinical manifestations, who were admitted to Airlangga University Hospital Surabaya from January 2016 to September 2017. Results showed that mostly HIV/AIDS patients with oral candidiasis are male (79.4%), old age (40-75years) total amounted to 58.8%, heterosexual as main risk factor (70%), clinical stadium mostly in stage IV (61.8%), 26% of patients with chronic diarrhea and 56% with pulmonary TB, clinical stages of patients have a significant relation to the incidence of oral candidiasis infection (p=0.024). The most common oral lesions found in people with HIV are Candidiasis. The best management is through routine dental examination and dental precautions to maintain health and achieve a better quality of life.
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Do clinical manifestations of Systemic Lupus Erythematosus in Pakistan correlate with rest of Asia?
Rabbani, Malik Anas; Siddiqui, Bilal Karim; Tahir, Muhammad Hammad; Ahmad, Bushra; Shamim, A; Majid, Shahid; Ali, Syed Sohail; Shah, Syed Mansoor Ahmed; Ahmad, Aasim
2006-05-01
Systemic Lupus Erythematosus (SLE) is known to be different among people with different racial, geographical and socio-economic back grounds. Asia has diverse ethnic groups broadly, Orientals in the East and Southeast Asia, Indians in South Asia and Arabs in the Middle East. These regions differ significantly from the Caucasians with reference to SLE. The purpose of this study was, therefore, to delineate the clinical pattern and disease course in Pakistani patients with SLE and compare it with Asian data. Patients with SLE fulfilling the clinical and laboratory criteria of the American Rheumatism Association admitted at the Aga Khan University Hospital between 1986 and 2001 were studied by means of a retrospective review of their records. The results were compared with various studies in different regions of Asia. Demographically, it was seen that SLE is a disease predominantly of females in their third decade, which is generally consistent with Asian data. There was less cutaneous manifestations, arthritis, serositis, haematological and renal involvement compared to various regions in Asia. The neurological manifestations of SLE, however, place Pakistani patients in the middle of a spectrum between South Asians and other Asian races. This study has shown that the clinical characteristics of SLE patients in our country may be different to those of other Asian races. Although our population is similar to South Asians, but clinical manifestations of our SLE patients are considerably different, suggesting some unknown etiology. Further studies are required to confirm the above results and to find statistically sounder associations.
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Camilo-Araújo, Roberta Faria; Amancio, Olga Maria Silverio; Figueiredo, Maria Stella; Cabanãs-Pedro, Ana Carolina; Braga, Josefina Aparecida Pellegrini
2014-01-01
Objectives To analyze the frequency of βS-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia. Method The frequency of βS-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3–71 months. The confirmation of hemoglobin SS and determination of the haplotypes were achieved by polymerase chain reaction-restriction fragment length polymorphism, and alpha-thalassemia genotyping was by multiplex polymerase chain reaction (single-tube multiplex-polymerase chain reaction). Results The genotype distribution of haplotypes was 43 (36.7%) Central African Republic/Benin, 41 (35.0%) Central African Republic/Central African Republic, 20 (17.0%) Rare/atypical, and 13 (11.1%) Benin/Benin. The frequency of the α3.7 deletion was 1.71% as homozygous (−α3.7/−α3.7) and 11.9% as heterozygous (−α3.7/αα). The only significant association in respect to haplotypes was related to the mean corpuscular volume. The presence of alpha-thalassemia was significantly associated to decreases in mean corpuscular volume, mean corpuscular hemoglobin and reticulocyte count and to an increase in the red blood cell count. There were no significant associations of βS-globin haplotypes and alpha-thalassemia with clinical manifestations. Conclusions In the study population, the frequency of alpha-thalassemia was similar to published data in Brazil with the Central African Republic haplotype being the most common, followed by the Benin haplotype. βS-globin haplotypes and interaction between alpha-thalassemia and sickle cell anemia did not influence fetal hemoglobin concentrations or the number of clinical manifestations. PMID:25305165
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Advances in hepatitis E - II: Epidemiology, clinical manifestations, treatment and prevention.
Goel, Amit; Aggarwal, Rakesh
2016-09-01
Infection with hepatitis E virus (HEV) is the commonest cause of acute hepatitis worldwide. This infection, with fecal-oral transmission, was previously thought to be limited to humans residing in developing countries with poor sanitation, spreading via contaminated drinking water. In recent years, our understanding of epidemiology and clinical spectrum of this infection have changed markedly. This article reviews the epidemiology, including routes of transmission, and clinical manifestations of HEV infection around the world. In addition, recent findings on transmission-associated HEV infection, extrahepatic manifestations of hepatitis E and chronic infection with HEV, and treatment and prevention of this infection are discussed. Expert commentary: HEV infection has two distinct epidemiologic forms and clinical patterns of disease: (i) acute epidemic or sporadic hepatitis caused by fecal-oral (usually water-borne) transmission of genotype 1 and 2 HEV from a human reservoir in areas with poor hygiene and frequent water contamination, and (ii) infrequent sporadic hepatitis E caused by zoonotic infection, possibly from an animal source through ingestion of undercooked animal meal, of genotype 3 or 4 virus. In disease-endemic areas, pregnant women are at a particular risk of serious disease and high mortality. In less-endemic areas, chronic infection with HEV among immunosuppressed persons is observed. HEV can also be transmitted through Transfusion of blood and blood products. Ribivirin treatment is effective in chronic hepatitis E. Two efficacious vaccines have been tried in humans; one of these has received marketing approval in its country of origin.
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Choi, Chan-Bum; Liang, Matthew H; Bae, Sang-Cheol
2016-01-06
Since the 2002 Dusseldorf meeting, one new agent, Benlysta, has been approved by the US Food and Drug Administration for systemic lupus erythematosus. Experiences from the field in conducting trials of all the agents tested during this period have provided valuable practical insights. There has been incremental progress in defining the minimal clinically important difference (MCID) of key disease manifestations and the view is largely that of the health care providers and not that of the person suffering the disease. This basic methodological work on the MCID should improve the efficiency and the clinical relevance of future trials and their design.
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Tian, Y; Li, J X; Wang, H H; Li, R Y; Liu, X G
2016-07-01
To investigate the cutaneous manifestations in patients with ulcerative colitis (UC) and related factors. Patients admitted to Department of Gastroenterology Peking University First Hospital from January 1994 to December 2014 and diagnosed as UC were retrospectively enrolled in this study. Skin disorders were confirmed by the dermatologists. Clinical data were collected and compared between patients with and without cutaneous manifestations. Among the total 373 UC patients, there were 34 cases (9.1%) with cutaneous manifestations, including 11 pyoderma gangrenosum, 8 erythema nodosum, 6 eczema, 3 psoriasis, 2 pemphigus, 1 granulomatous cheilitis, 1 ichthyosis, 1 acne rosacea, and 1 impetigo. The skin manifestations may occur after the diagnosis, simultaneously or even before the diagnosis of UC, which were 24, 7 and 3 patients respectively. The mean age in patients with skin lesions was (47.2±12.1) years, male to female ratio 0.79∶1. More patients with skin manifestations had severe activity of UC compared with non-skin group [50.0%(17/34) vs 25.1%(85/339), P=0.01]. In addition, the proportion of extensive colitis in skin lesion group was significantly higher than that in non-skin group [76.5%(26/34) vs 54.6%(185/339), P=0.04]. The cutaneous manifestations associated with UC are polymorphic, erythema nodosums and pyoderma gangrenosums are the most common skin lesions seen in UC patients. Skin lesions occur concurrently, pre or post the diagnosis of UC. Skin lesions in UC patients suggest more severe disease activity. Clinicians need to pay more attention to this group.
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Cardiovascular manifestations of phaeochromocytoma.
Prejbisz, Aleksander; Lenders, Jacques W M; Eisenhofer, Graeme; Januszewicz, Andrzej
2011-11-01
Clinical expression of phaeochromocytoma may involve numerous cardiovascular manifestations, but usually presents as sustained or paroxysmal hypertension associated with other signs and symptoms of catecholamine excess. Most of the life-threatening cardiovascular manifestations of phaeochromocytoma, such as hypertensive emergencies, result from a rapid and massive release of catecholamines from the tumour. More rarely, patients with phaeochromocytoma present with low blood pressure or even shock that may then precede multisystem crisis. Sinus tachycardia, with palpitations as the presenting symptom, is the most prevalent abnormality of cardiac rhythm in phaeochromocytoma, but tumours can also be associated with more serious ventricular arrhythmias or conduction disturbances. Reversible dilated or hypertrophic cardiomyopathy are well established cardiac manifestations of phaeochromocytoma, with more recent attention to an increasing number of cases with Takotsubo cardiomyopathy. This review provides an update on the cause, clinical presentation and treatment of the cardiovascular manifestations of phaeochromocytoma. As the cardiovascular complications of phaeochromocytoma can be life-threatening, all patients who present with manifestations that even remotely suggest excessive catecholamine secretion should be screened for the disease.
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29 CFR 4022.10 - Earliest PBGC Retirement Date.
Code of Federal Regulations, 2010 CFR
2010-07-01
... after the date the participant reaches age 55, the Earliest PBGC Retirement Date for the participant is... reaches age 55, the Earliest PBGC Retirement Date for the participant is the date the participant reaches... participant reaches age 55, the PBGC will make a determination, under the facts and circumstances, as to...
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29 CFR 4022.10 - Earliest PBGC Retirement Date.
Code of Federal Regulations, 2011 CFR
2011-07-01
... after the date the participant reaches age 55, the Earliest PBGC Retirement Date for the participant is... reaches age 55, the Earliest PBGC Retirement Date for the participant is the date the participant reaches... participant reaches age 55, the PBGC will make a determination, under the facts and circumstances, as to...
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Cardiac manifestations of sarcoidosis: diagnosis and management.
Birnie, David H; Kandolin, Riina; Nery, Pablo B; Kupari, Markku
2017-09-14
Approximately 5% of patients with sarcoidosis will have clinically manifest cardiac involvement presenting with one or more of ventricular arrhythmias, conduction abnormalities, and heart failure. Cardiac presentations can be the first (and/or an unrecognized) manifestation of sarcoidosis in a variety of circumstances. Cardiac symptoms are usually dominant over extra-cardiac as most patients with clinically manifest disease have minimal extra-cardiac disease and up to two-thirds have isolated cardiac sarcoidosis (CS). It is estimated that another 20-25% of pulmonary/systemic sarcoidosis patients have asymptomatic cardiac involvement (clinically silent disease). The extent of left ventricular dysfunction seems to be the most important predictor of prognosis among patients with clinically manifest CS. In addition, the extent of myocardial late gadolinium enhancement is emerging as an important prognostic factor. The literature shows some controversy regarding outcomes for patients with clinically silent CS and larger studies are needed. Immunosuppression therapy (usually with corticosteroids) has been suggested for the treatment of clinically manifest CS despite minimal data supporting it. Fluorodeoxyglucose Positron Emission Tomography imaging is often used to detect active disease and guide immunosuppression. Patients with clinically manifest disease often need device therapy, typically with implantable cardioverter defibrillators. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2016. For permissions please email: journals.permissions@oup.com.
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Gallstone disease. The clinical manifestations of infectious stones.
Smith, A L; Stewart, L; Fine, R; Pellegrini, C A; Way, L W
1989-05-01
Gallstones from 82 patients were examined under a scanning electron microscope for evidence of bacteria, and the findings were compared with the clinical manifestations of the disease. Bacteria were present in 68% of pigment stones and the pigment portions of 80% of composite stones. These gallstones were referred to as infectious stones. No bacteria were found in cholesterol gallstones. Acute cholangitis was diagnosed in 52% of patients with infectious stones and in 18% of patients with noninfectious stones. Over half of the patients with noninfectious stones presented with mild symptoms. Infectious stones were more often associated with a previous common duct exploration, an urgent operation, infected bile, a common duct procedure, and complications. These data show that gallstone disease is more virulent in patients whose gallstones contain bacteria.
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Clinical manifestations and laboratory findings of 496 children with brucellosis in Van, Turkey.
Parlak, Mehmet; Akbayram, Sinan; Doğan, Murat; Tuncer, Oğuz; Bayram, Yasemin; Ceylan, Nesrin; Özlük, Suat; Akbayram, Hatice Tuba; Öner, Abdurrahman
2015-08-01
Brucellosis is the most common zoonotic disease worldwide and remains an important human disease especially in developing countries. The aim of the present study was to evaluate clinical manifestations and laboratory findings of childhood brucellosis in Van province of Eastern Turkey. To our knowledge, this is the largest series of childhood brucellosis reported in the literature. In this retrospective study, 496 children with brucellosis were assessed for the clinical manifestations and laboratory findings from July 2009 through December 2013. The diagnosis of brucellosis was based on clinical findings and a standard tube agglutination test (titer ≥ 1:160). Data were analyzed using Minitab version 16. The study included 496 children (boys, 60.5%) with a mean age of 10.0 ± 3.95 years (range, 1-16 years). The most frequent clinical symptoms were arthralgia (46.2%), fever (32.1%), and abdominal pain (17.1%) and the most common clinical signs were peripheral arthritis (10.1%), splenomegaly (2.2%) and hepatomegaly (1.8%). The most contagious seasons were summer and autumn (63.3%). Elevated lactate dehydrogenase and C-reactive protein and erythrocyte sedimentation rate were reported in 63.1%, 58.7%, and 55.2% of the patients, respectively. Anemia (20.4%), thrombocytopenia (15.5%), and leukopenia (12.1%) were the most common hematologic findings. Brucellosis remains a serious public health problem in Turkey. The clinical and laboratory characteristics of childhood brucellosis have been described in order to assist clinicians in diagnosing and monitoring the disease. © 2015 Japan Pediatric Society.
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Unusual clinical manifestation of pheochromocytoma in a MEN2A patient.
Guerrieri, M; Filipponi, S; Arnaldi, G; Giovagnetti, M; Lezoche, E; Mantero, F; Taccaliti, A
2002-01-01
A case of unusual clinical manifestation of pheochromocytoma in a type 2A multiple endocrine neoplasia (MEN2A) patient is presented. A 27-year-old man affected by MEN2A syndrome, complaining of anxiety and depression, was admitted in our Division. Past medical history included a total thyroidectomy for medullary carcinoma in 1985, and left adrenalectomy for pheochromocytoma in 1994. Blood pressure was 130/ 85 mmHg without orthostatic hypotension and pulse rate was 72 beats/min. Laboratory data revealed thyroid hormones and carcinoembryonic antigen (CEA) in the normal range and high basal serum calcitonin levels (158 pg/ml). Plasma catecholamines and vanillylmandelic acid resulted in normal levels but epinephrine/norepinephrine ratio was elevated (0.65). The glucagon stimulation test showed positive clinical and biochemical response. Magnetic resonance imaging (MRI) and meta-iodobenzylguanidine (MIBG) scintiscan confirmed the presence of bilateral adrenal masses. Bilateral adrenalectomy by laparoscopic anterior approach was performed. Histology was consistent with adrenal pheochromocytomas. After surgical approach, psychiatric findings disappeared and did not recur at follow-up in spite of no medication for two years. In conclusion, bilateral pheochromocytoma is more frequent in MEN2A syndrome and probably understimated if the follow-up is not prolonged. In these cases clinical features are often aspecific and basal hormonal data may be normal in a great number of patients. Therefore long-term observation is justified in these patients. Pheochromocytoma was described as the "great mimic" for the numerous subjective manifestations. Differential diagnosis among typical features of neuropsychiatric disorders and pheochromocytoma must be considered.
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Oral Manifestations of Secondary Syphilis.
de Paulo, Luiz Fernando Barbosa; Servato, João Paulo Silva; Oliveira, Maiolino Thomaz Fonseca; Durighetto, Antonio Francisco; Zanetta-Barbosa, Darceny
2015-06-01
Known as "the great imitator," secondary syphilis may clinically manifest itself in myriad ways, involving different organs including the oral mucosa, and mimicking, both clinically and histologically, several diseases, thereby making diagnosis a challenge for clinicians. We highlight the clinical aspects of oral manifestation in 7 patients with secondary syphilis. Clinicians should consider secondary syphilis in the differential diagnosis of ulcerative and/or white oral lesions. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.
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[Clinical extraintestinal manifestations in patients with ulcerative colitis].
Toader, Elena
2007-01-01
Ulcerative colitis (UC) is a chronic disease clinically manifest either by bowel symptoms alone or extraintestinal symptoms. Our prospective study included 635 patients with ulcerative colitis (334 males and 301 females, mean age 37.54 +/- 13.84, range 20-70 years). The presence of the common extraintestinal symptoms (ES) was analyzed. Of the 635 investigated patients, these symptoms were found in 83 (13%, 49 males and 34 females, mean age 41.6 +/- 13.95 range 21-70). Patients with ES suffered longer from UC on the average, that is 60.6 years. Most commonly ES involved the joints, 38 (45.8%) patients, hepatobiliary, 28 patients (33.7%), skin, 10 patients (12%) and eyes, 7 patients (8.4%). In 18% of the patients two or more ES were present. ES were clinically detectable after the intestinal symptoms in 81% patients. An increased tendency of ES to occur in patients with a more extensive disease was noticed. The prevalence of ES in the UC patients from NE Romania is in agreement with data from other countries. The number of ES supports the need for complex follow-up in these patients.
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Reinstein, Dan Z; Yap, Timothy E; Carp, Glenn I; Archer, Timothy J; Gobbe, Marine
2014-03-01
To measure and compare the interobserver reproducibility of manifest refraction according to a standardized protocol for normal preoperative patients in a refractive surgery practice. Private clinic, London, United Kingdom. Retrospective case series. This retrospective study comprised patients attending 2 preoperative refractions before laser vision correction. The first manifest refraction was performed by 1 of 7 optometrists and the second manifest refraction by 1 of 2 surgeons, all trained using a standard manifest refraction protocol. Spherocylindrical data were converted into power vectors for analysis. The dioptric power differences between observers were calculated and analyzed. One thousand nine hundred twenty-two consecutive eyes were stratified into a myopia group and a hyperopia group and then further stratified by each surgeon-optometrist combination. The mean surgeon-optometrist dioptric power difference was 0.21 diopter (D) (range 0.15 to 0.32 D). The mean difference in spherical equivalent refraction was 0.03 D, with 95% of all refractions within ±0.44 D for all optometrist-surgeon combinations. The severity of myopic or hyperopic ametropia did not affect the interobserver reproducibility of the manifest refraction. There was close agreement in refraction between surgeons and optometrists using a standard manifest refraction protocol of less than 0.25 D. This degree of interobserver repeatability is similar to that in intraobserver repeatability studies published to date and may represent the value of training and the use of a standard manifest refraction protocol between refraction observers in a refractive surgery practice involving co-management between surgeons and optometrists. Copyright © 2014 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.
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NASA Astrophysics Data System (ADS)
Perdhana, S. A. P.; Susilo, R. S. B.; Arifin; Redhono, D.; Sumandjar, T.
2018-03-01
Leptospirosis is a potentially fatal zoonosis that is endemic in many tropical regions and causes large epidemics after heavy rainfall and flooding. Severe disease is estimated 5–15% of all human infections. Its mortality rate is 5-40%. MAT, isolation of the organism, or leptospiral DNA in PCR are used to confirm Leptospirosis. This cross-sectional analytic study recruited 26 hospitalized leptospirosis patients admitted to Dr. Moewardi Hospital Surakarta. The diagnosis was based on clinical, laboratory and epidemiological findings. The onset of the disease was the date when the first symptom started, and the end of the analysis was the date when the patient died or discharged. Modified Faine’s score ≥ 25 tend to die (45.5%) while modified Faine’s score 20 – 24 tend to heal (60%) (OR 1.250; CI 0.259-6.029; p=1.0). Seropositive IgM predicts mortality 7.8 times higher than seronegative IgM (OR 7.800; CI 1.162-52.353; p=0.038). MAT positive predict mortality 10.667 times higher than MAT negative (OR 10.667; CI 1.705-66.720; p=0.015). Clinical manifestation, MAT, and serologic marker are all correlated with mortality in Leptospirosis. However, statistically, clinical manifestation has an insignificant correlation.
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Clinical manifestations of sleep apnea
2015-01-01
Obstructive sleep apnea (OSA) may manifest in a number of ways from subtle intrusion into daily life to profound sleepiness, snoring, witnessed apneas and other classic symptoms. Although there is increasing evidence suggesting OSA can adversely affect health in a variety of ways, this disorder remains underdiagnosed. The most well-escribed health consequences of OSA relate to the cardiovascular system. Hypertension and arrhythmias have a strong association with OSA, and evidence suggests that treatment of OSA in patients with refractory hypertension and in patients planning cardioversion for atrial fibrillation may be of particularly importance. Significant associations between heart failure and OSA as well as complex sleep apnea have also been well-described. Cerebrovascular insult, impaired neurocognition, and poorly controlled mood disorder are also associated with in OSA. Therapy for OSA may ameliorate atherosclerotic progression and improve outcomes post-cerebrovascular accident (CVA). OSA should be considered in patients complaining of poor concentration at work, actual or near-miss motor vehicle accidents, and patients with severe sleepiness as a component of their co-morbid mood disorders. The metabolic impact of OSA has also been studied, particularly in relation to glucose homeostasis. Also of interest is the potential impact OSA has on lipid metabolism. The adverse effect untreated OSA has on glucose tolerance and lipid levels has led to the suggestion that OSA is yet another constituent of the metabolic syndrome. Some of these metabolic derangements may be related to the adverse effects untreated OSA has on hepatic health. The cardiovascular, neurocognitive, and metabolic manifestations of OSA can have a significant impact on patient health and quality of life. In many instances, evidence exists that therapy not only improves outcomes in general, but also modifies the severity of co-morbid disease. To mitigate the long-term sequela of this disease
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Exarchou, Sofia; Lindström, Ulf; Askling, Johan; Eriksson, Jonas K; Forsblad-d'Elia, Helena; Neovius, Martin; Turesson, Carl; Kristensen, Lars Erik; Jacobsson, Lennart T H
2015-05-09
Prevalence estimates of ankylosing spondylitis vary considerably, and there are few nationwide estimates. The present study aimed to describe the national prevalence of clinically diagnosed ankylosing spondylitis in Sweden, stratified according to age, sex, geographical, and socio-economic factors, and according to subgroups with ankylosing spondylitis-related clinical manifestations and pharmacological treatment. All individuals diagnosed with ankylosing spondylitis according to the World Health Organization International Classification of Disease codes, between 1967 and 2009, were identified from the National Patient Register. Data regarding disease manifestations, patient demographics, level of education, pharmacological treatment, and geographical region were retrieved from the National Patient Register and other national registers. A total of 11,030 cases with an ankylosing spondylitis diagnosis (alive, living in Sweden, and 16 to 64 years old in December 2009) were identified in the National Patient Register, giving a point prevalence of 0.18% in 2009. The prevalence was higher in northern Sweden, and lower in those with a higher level of education. Men had a higher prevalence of ankylosing spondylitis (0.23% versus 0.14%, P < 0.001), a higher frequency of anterior uveitis (25.5% versus 20.0%, P < 0.001) and were more likely to receive tumor necrosis factor inhibitors than women (15.6% versus 11.8% in 2009, P < 0.001). Women were more likely than men to have peripheral arthritis (21.7% versus 15.3%, P < 0.001), psoriasis (8.0% versus 6.9%, P = 0.03), and treatment with oral corticosteroids (14.0% versus 10.4% in 2009, P < 0.001). This nationwide, register-based study demonstrated a prevalence of clinically diagnosed ankylosing spondylitis of 0.18%. It revealed phenotypical and treatment differences between the sexes, as well as geographical and socio-economic differences in disease prevalence.
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Altered brain mechanisms of emotion processing in pre-manifest Huntington's disease.
Novak, Marianne J U; Warren, Jason D; Henley, Susie M D; Draganski, Bogdan; Frackowiak, Richard S; Tabrizi, Sarah J
2012-04-01
Huntington's disease is an inherited neurodegenerative disease that causes motor, cognitive and psychiatric impairment, including an early decline in ability to recognize emotional states in others. The pathophysiology underlying the earliest manifestations of the disease is not fully understood; the objective of our study was to clarify this. We used functional magnetic resonance imaging to investigate changes in brain mechanisms of emotion recognition in pre-manifest carriers of the abnormal Huntington's disease gene (subjects with pre-manifest Huntington's disease): 16 subjects with pre-manifest Huntington's disease and 14 control subjects underwent 1.5 tesla magnetic resonance scanning while viewing pictures of facial expressions from the Ekman and Friesen series. Disgust, anger and happiness were chosen as emotions of interest. Disgust is the emotion in which recognition deficits have most commonly been detected in Huntington's disease; anger is the emotion in which impaired recognition was detected in the largest behavioural study of emotion recognition in pre-manifest Huntington's disease to date; and happiness is a positive emotion to contrast with disgust and anger. Ekman facial expressions were also used to quantify emotion recognition accuracy outside the scanner and structural magnetic resonance imaging with voxel-based morphometry was used to assess the relationship between emotion recognition accuracy and regional grey matter volume. Emotion processing in pre-manifest Huntington's disease was associated with reduced neural activity for all three emotions in partially separable functional networks. Furthermore, the Huntington's disease-associated modulation of disgust and happiness processing was negatively correlated with genetic markers of pre-manifest disease progression in distributed, largely extrastriatal networks. The modulated disgust network included insulae, cingulate cortices, pre- and postcentral gyri, precunei, cunei, bilateral putamena
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Clinical manifestations and growth of patients with urea cycle disorders in Japan.
Nakamura, Kimitoshi; Kido, Jun; Matsumoto, Shirou; Mitsubuchi, Hiroshi; Endo, Fumio
2016-07-01
We have previously examined the clinical manifestations, treatments and prognosis of 177 patients with urea cycle disorders (UCDs) from January 1999 to March 2009 in Japan. In this study, we investigated the incidence of clinical manifestations in different peak blood ammonia level at onset in UCD patients, and examined the growth of OTCD (ornithine transcarbamylase deficiency) patients. The UCD patients who had a high peak blood ammonia level at onset showed significantly high incidence of convulsion and abnormal head computed tomography or magnetic resonance imaging. The patients also showed significantly high incidence of hemodialysis and liver transplantation. Choice of therapeutic agents for long-term treatment is not different between peak blood ammonia levels at the onset, except for the use of special amino-acid formulas. Growth retardation is not affected by high peak blood ammonia level at onset; however, 32% of male and 52% of female OTCD patients over 1 year old were plotted under the 10th percentile, and showed growth failure. The final height of the male and female OTCD patients were 166.2±5.5 and 150.3±7.2 cm, respectively. Although the prognosis of UCDs was improved significantly, it is considered that there are still many difficulties in the UCD patient's life.
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[Relevance of drug use in clinical manifestations of schizophrenia].
Arias Horcajadas, F; Sánchez Romero, S; Padín Calo, J J
2002-01-01
To study the association between drugs use with schizophrenia clinical manifestations. The sample consists of 82 out-patients with schizophrenia, between 18 and 45 years old. They were evaluated with Addiction Severity Index (ASI) and with Positive and Negative Syndrome Scale (PANSS). A 6 months follow up was carried out. 37,8% patients had lifetime drug dependence (including alcohol and others drugs except for tobacco). The prevalence of dependence for the different drugs were: opioids 9,8%, cocaine 11%, alcohol 29,3%, cannabis 24,4%, tobacco 68,3%, caffeine 15,9%. Drug dependent had more family and legal problems. At the multiple regression analysis it was observed that cannabis and tobacco dependence was associated with a decrease in the PANSS negative symptoms subscale, and on the contrary, alcohol dependence produces a similar intensity increase at that scoring. We don't detect any clinical relevance effects over positive symptoms. Cannabis and tobacco may improve schizophrenia negative symptoms or neuroleptic secondary effects or patients with few negative symptoms may have more predisposition to the use, on the contrary alcohol use can impairment those symptoms.
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Earliest English Definitions of Anaisthesia and Anaesthesia.
Haridas, Rajesh P
2017-11-01
The earliest identified English definition of the word anaisthesia was discovered in the first edition (1684) of A Physical Dictionary, an English translation of Steven Blankaart's medical dictionary, Lexicon Medicum Graeco-Latinum. This definition was almost certainly the source of the definition of anaesthesia which appeared in Dictionarium Anglo-Britannicum (1708), a general-purpose English dictionary compiled by the lexicographer John Kersey. The words anaisthesia and anaesthesia have not been identified in English medical or surgical publications that antedate the earliest English dictionaries in which they are known to have been defined.
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Epidemiology and Clinical Manifestations of Enteroaggregative Escherichia coli
Hebbelstrup Jensen, Betina; Olsen, Katharina E. P.; Struve, Carsten; Petersen, Andreas Munk
2014-01-01
SUMMARY Enteroaggregative Escherichia coli (EAEC) represents a heterogeneous group of E. coli strains. The pathogenicity and clinical relevance of these bacteria are still controversial. In this review, we describe the clinical significance of EAEC regarding patterns of infection in humans, transmission, reservoirs, and symptoms. Manifestations associated with EAEC infection include watery diarrhea, mucoid diarrhea, low-grade fever, nausea, tenesmus, and borborygmi. In early studies, EAEC was considered to be an opportunistic pathogen associated with diarrhea in HIV patients and in malnourished children in developing countries. In recent studies, associations with traveler's diarrhea, the occurrence of diarrhea cases in industrialized countries, and outbreaks of diarrhea in Europe and Asia have been reported. In the spring of 2011, a large outbreak of hemolytic-uremic syndrome (HUS) and hemorrhagic colitis occurred in Germany due to an EAEC O104:H4 strain, causing 54 deaths and 855 cases of HUS. This strain produces the potent Shiga toxin along with the aggregative fimbriae. An outbreak of urinary tract infection associated with EAEC in Copenhagen, Denmark, occurred in 1991; this involved extensive production of biofilm, an important characteristic of the pathogenicity of EAEC. However, the heterogeneity of EAEC continues to complicate diagnostics and also our understanding of pathogenicity. PMID:24982324
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Chaos theory for clinical manifestations in multiple sclerosis.
Akaishi, Tetsuya; Takahashi, Toshiyuki; Nakashima, Ichiro
2018-06-01
Multiple sclerosis (MS) is a demyelinating disease which characteristically shows repeated relapses and remissions irregularly in the central nervous system. At present, the pathological mechanism of MS is unknown and we do not have any theories or mathematical models to explain its disseminated patterns in time and space. In this paper, we present a new theoretical model from a viewpoint of complex system with chaos model to reproduce and explain the non-linear clinical and pathological manifestations in MS. First, we adopted a discrete logistic equation with non-linear dynamics to prepare a scalar quantity for the strength of pathogenic factor at a specific location of the central nervous system at a specific time to reflect the negative feedback in immunity. Then, we set distinct minimum thresholds in the above-mentioned scalar quantity for demyelination possibly causing clinical relapses and for cerebral atrophy. With this simple model, we could theoretically reproduce all the subtypes of relapsing-remitting MS, primary progressive MS, and secondary progressive MS. With the sensitivity to initial conditions and sensitivity to minute change in parameters of the chaos theory, we could also reproduce the spatial dissemination. Such chaotic behavior could be reproduced with other similar upward-convex functions with appropriate set of initial conditions and parameters. In conclusion, by applying chaos theory to the three-dimensional scalar field of the central nervous system, we can reproduce the non-linear outcome of the clinical course and explain the unsolved disseminations in time and space of the MS patients. Copyright © 2018 Elsevier Ltd. All rights reserved.
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Sclerodermatomyositis, ocular manifestations.
Pedroza-Seres, M; Serna-Ojeda, J C; Flores-Suárez, L F
2017-07-01
Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. A 57 year-old woman presented with ophthalmological manifestations, including scleral thinning 360°, and the presence of cells in the anterior and posterior chamber. Oriented physical examination and laboratory studies led to the diagnosis, with the need for systemic treatment. Sclerodermatomyositis is a rare disease. Its diagnosis needs thorough clinical and laboratory studies, and its management should be multidisciplinary when inflammatory ocular manifestations may be present. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.
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Myelitis and Lupus: Clinical Manifestations, Diagnosis and Treatment. Review.
Chiganer, Edson Hernán; Hryb, Javier Pablo; Carnero Contentti, Edgar
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple systems. Myelopathy is one of 19 neuropsychiatric syndromes related to SLE defined by the American College of Rheumatology. Although infrequent, it is a severe manifestation, leading to motor and sensory deficits, and sphincter dysfunction. The pathogenesis is not clearly known, but may be related to arterial thrombosis and vasculitis. Diagnosis is based on clinical findings, laboratory tests and the use of gadolinium-enhanced magnetic resonance imaging. The standard therapy is the combination of intravenous cyclophosphamide and glucocorticoids. In refractory disease, other treatments such as plasmapheresis or rituximab have been used. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.
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Bacher, Adrienne; Mittoo, Shikha; Hudson, Marie; Tatibouet, Solène; Baron, Murray
2013-07-01
Certain North American Native (NAN) populations are known to have higher rates of systemic sclerosis (SSc) compared to non-NAN; however, little is known of the specific disease characteristics in this population in Canada. This study compares the clinical and serological manifestations of SSc in NAN and white patients. This cross-sectional, multicenter study included subjects enrolled in the Canadian Scleroderma Research Group registry between September 2004 and June 2012. Subjects were evaluated with complete medical histories, physical examinations, and self-questionnaires. Ethnicity was defined by self-report. Disease characteristics were compared between NAN and white patients and multivariate analyses were performed to determine the independent association between ethnicity and various clinical manifestations. Of 1278 patients, 1038 (81%) were white, 71 (6%) were NAN, and 169 (13%) were classified as non-white/non-NAN. There were important differences between NAN and white subjects with SSc. In multivariate analysis adjusting for socioeconomic differences and smoking status, NAN ethnicity was an independent risk factor for the severity of Raynaud phenomenon and more gastrointestinal symptoms, and was associated with a nonsignificant increase in the presence of digital ulcers. NAN patients with SSc have a distinct clinical phenotype. Our study provides a strong rationale to pursue further research into genetic and environmental determinants of SSc.
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Manifest dream content as a possible predictor of suicidality.
Glucksman, Myron L
2014-12-01
The prediction of suicidal intent remains a clinical problem. This presentation illustrates that a distinction may be made between the manifest dream reports of patients who are potentially or acutely suicidal and those who are not. A review of the literature reveals that the manifest dream reports of clinically depressed, non-suicidal individuals differ from those who are depressed and acutely suicidal. The former contain themes of loss, disappointment, rejection, helplessness, hopelessness, failure, and death. The latter contain themes of dying, death, destruction, and violence directed toward the dreamer or others, as well as hopelessness and helplessness. The author collected manifest dream reports from three clinically depressed, non-suicidal patients and three clinically depressed, potentially or acutely suicidal patients. There are apparent differences between the themes of manifest dream reports in the clinically depressed, non-suicidal patients and the clinically depressed, potentially or acutely suicidal patients. The former contain themes of death, loss, rejection, vulnerability, hopelessness, and helplessness. The latter contain themes of active harm or violence (specifically toward the dreamer), dying or being dead, aloneness, vulnerability, hopelessness, and helplessness. Clinical cases and corresponding manifest dream reports are presented. Although this is a preliminary study, it is possible that manifest dream content may be used as one of the predictors of suicidality, in conjunction with latent dream content, diagnosis, life circumstance, and clinical status.
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Corrales Pinzón, R; Alonso Sánchez, J M; de la Mano González, S; El Karzazi Tarazona, K
2014-01-01
Hepatocellular carcinoma is the most common primary tumor of the liver. Spreading outside the liver usually takes place in advanced stages of the disease, and bone is the third most common site of metastases. We present a case of hepatocellular carcinoma in which the first clinical manifestation was a single metastasis to the carpal bones. The interest of this case lies in the way this hepatocellular carcinoma manifested as well as in the unusual site of the metastasis. Copyright © 2012 SERAM. Published by Elsevier Espana. All rights reserved.
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Food allergy in Catalonia: Clinical manifestations and its association with airborne allergens.
Sánchez-López, J; Gázquez, V; Rubira, N; Valdesoiro, L; Guilarte, M; Garcia-Moral, A; Depreux, N; Soto-Retes, L; De Molina, M; Luengo, O; Lleonart, R; Basagaña, M
Food allergy affects around 6% of the European population and its prevalence worldwide has been increasing in the last decades, but studies focused on investigating food allergy epidemiology in Europe are lacking. The Cibus project was created to register the main culprit foods and their clinical manifestations in food allergic patients in Catalonia. A specific online database was designed. Allergists from eight different Catalan hospitals registered the new diagnoses of food allergy. 618 food allergic patients were included. Egg and milk were the main elicitors in the early ages, while fruits and nuts were the most frequent in patients >14 years old. Fish was more frequent in children, while seafood and Anisakis allergy were more frequent in the >14-year-old group. Overall, peach was the most prevalent food eliciting an allergic reaction (10%). Food allergy diagnosis was reached using compatible clinical history and positive skin prick test to the involved food in 98% of cases. Globally, urticaria was the most frequently reported manifestation in our population (48.2%), followed by oral allergy syndrome (25.6%) and anaphylaxis (24.8%). The Cibus project gives a full overview of the profile of food allergic patients in Catalonia and reinforces the predominance of plant food allergies in the Mediterranean area. Copyright © 2016 SEICAP. Published by Elsevier España, S.L.U. All rights reserved.
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Clinical manifestations and management of Gaucher disease.
Linari, Silvia; Castaman, Giancarlo
2015-01-01
Gaucher disease is a rare multi-systemic metabolic disorder caused by the inherited deficiency of the lysosomal enzyme β-glucocerebrosidase, which leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages with damage to haematological, visceral and bone systems. Anaemia, thrombocytopenia, enlargement of liver and/or spleen, skeletal abnormalities (osteopenia, lytic lesions, pathological fractures, chronic bone pain, bone crisis, bone infarcts, osteonecrosis and skeletal deformities) are typical manifestations of the most prevalent form of the disease, the so-called non-neuronopathic type 1. However, severity and coexistence of different symptoms are highly variable. The determination of deficient β-glucocerebrosidase activity in leukocytes or fibroblasts by enzymatic assay is the gold standard for the diagnosis of Gaucher disease. Comprehensive and reproducible evaluation and monitoring of all clinically relevant aspects are fundamental for the effective management of Gaucher disease patients. Enzyme replacement therapy has been shown to be effective in reducing glucocerebroside storage burden and diminishing the deleterious effects caused by its accumulation. Tailored treatment plan for each patient should be directed to symptom relief, general improvement of quality of life, and prevention of irreversible damage.
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Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy.
Banikazemi, Maryam; Ullman, Thomas; Desnick, Robert J
2005-08-01
Gastrointestinal symptoms are often an early and prominent manifestation of Fabry disease, an X-linked inborn error of metabolism caused by the deficient activity of the lysosomal enzyme, alpha-galactosidase A. This enzyme deficiency results in the progressive accumulation of globotriaosylceramide and other glycosphingolipids in tissue lysosomes throughout the body. In classically affected patients, glycosphingolipid accumulation in the vascular endothelium eventually culminates in life-threatening renal, cardiac, and cerebrovascular disease. In addition, over 50% of patients experience post-prandial abdominal pain and diarrhea that interferes with the ability to work and quality of life. Here, we describe four males aged 17-40 years with classic Fabry disease and severe gastrointestinal symptoms who participated in clinical trials of enzyme replacement therapy with agalsidase beta (Fabrazyme, 1 mg/kg every 2 weeks). Before therapy, the three adult patients experienced post-prandial abdominal pain, bloating, and severe diarrhea with 7-10 bowel movements per day every day and the 17-year-old had weekly episodes of diarrhea with six bowel movements per day. Other symptoms included vomiting, food intolerance, and poor weight gain. All patients took medications for these symptoms (diphenoxylate-atropine [Lomotil], ranitidine hydrochloride [Zantac], or sulfasalazine). After 6-7 months of agalsidase beta therapy, all patients reported "no or only occasional" abdominal pain or diarrhea, had discontinued their gastrointestinal medications, and had gained 3-8 kg. These marked improvements in gastrointestinal symptoms have persisted for over 3 years of treatment. In such patients, enzyme replacement at 1 mg/kg effects an early and significant clinical improvement in the gastrointestinal manifestations of Fabry disease.
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Aspergillus Osteomyelitis: Epidemiology, Clinical Manifestations, Management, and Outcome
Gamaletsou, Maria N.; Rammaert, Blandine; Bueno, Marimelle A.; Moriyama, Brad; Sipsas, Nikolaos V.; Kontoyiannis, Dimitrios P.; Roilides, Emmanuel; Zeller, Valerie; Prinapori, Roberta; Tajaldeen, Saad Jaber; Brause, Barry; Lortholary, Olivier; Walsh, Thomas J.
2014-01-01
Background The epidemiology, pathogenesis, diagnosis, and management of Aspergillus osteomyelitis are not well understood. Methods Protocol-defined cases of Aspergillus osteomyelitis published in the English literature were reviewed for comorbidities, microbiology, mechanisms of infection, clinical manifestations, radiological findings, inflammatory biomarkers, antifungal therapy, and outcome. Results Among 180 evaluable patients, 127 (71%) were males. Possible predisposing medical conditions in 103 (57%) included pharmacological immunosuppression, primary immunodeficiency, and neutropenia. Seventy-three others (41%) had prior open fracture, trauma or surgery. Eighty (44%) followed a hematogenous mechanism, 58 (32%) contiguous infections, and 42 (23%) direct inoculation. Aspergillus osteomyelitis was the first manifestation of aspergillosis in 77%. Pain and tenderness were present in 80%. The most frequently infected sites were vertebrae (46%), cranium (23%), ribs (16%), and long bones (13%). Patients with vertebral Aspergillus osteomyelitis had more previous orthopedic surgery (19% vs 0%; P=0.02), while those with cranial osteomyelitis had more diabetes mellitus (32% vs 8%; P=0.002) and prior head/neck surgery (12% vs 0%; P=0.02). Radiologic findings included osteolysis, soft-tissue extension, and uptake on T2-weighted images. Vertebral body Aspergillus osteomyelitis was complicated by spinal-cord compression in 47% and neurological deficits in 41%. Forty-four patients (24%) received only antifungal therapy, while 121(67%) were managed with surgery and antifungal therapy. Overall mortality was 25%. Median duration of therapy was 90 days (range, 10–772 days). There were fewer relapses in patients managed with surgery plus antifungal therapy in comparison to those managed with antifungal therapy alone (8% vs 30%; P=0.006). Conclusions Aspergillus osteomyelitis is a debilitating infection affecting both immunocompromised and immunocompetent patients. The most
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Localized periorbital edema as a clinical manifestation of sulfite sensitivity.
Park, H S; Nahm, D
1996-08-01
Sulfite is commonly used in pharmaceuticals as a preservative. We report a unique clinical presentation of localized periorbital edema on the left eye after administration of sulfite-containing dexamethasone. The patient's sulfite sensitivity was confirmed by sulfite oral provocation test: periorbital edema on the same site developed after ingestion of 200 mg sodium bisulfite. She was non-atopic and did not complain of any respiratory symptoms. Allergy skin prick test with 100 mg/ml sodium bisulfite showed a negative result. She also has aspirin-sensitive urticaria which was confirmed by oral provocation test. In conclusion, sulfite can induce a localized periorbital edema, an uncommon manifestation in sensitive patients. Further investigations are needed to clarify the pathogenetic mechanisms.
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Localized periorbital edema as a clinical manifestation of sulfite sensitivity.
Park, H. S.; Nahm, D.
1996-01-01
Sulfite is commonly used in pharmaceuticals as a preservative. We report a unique clinical presentation of localized periorbital edema on the left eye after administration of sulfite-containing dexamethasone. The patient's sulfite sensitivity was confirmed by sulfite oral provocation test: periorbital edema on the same site developed after ingestion of 200 mg sodium bisulfite. She was non-atopic and did not complain of any respiratory symptoms. Allergy skin prick test with 100 mg/ml sodium bisulfite showed a negative result. She also has aspirin-sensitive urticaria which was confirmed by oral provocation test. In conclusion, sulfite can induce a localized periorbital edema, an uncommon manifestation in sensitive patients. Further investigations are needed to clarify the pathogenetic mechanisms. PMID:8878807
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Manipulating the reported age in earliest memories.
Wessel, Ineke; Schweig, Theresa; Huntjens, Rafaële J C
2017-11-02
Previous work suggests that the estimated age in adults' earliest autobiographical memories depends on age information implied by the experimental context [e.g., Kingo, O. S., Bohn, A., & Krøjgaard, P. (2013). Warm-up questions on early childhood memories affect the reported age of earliest memories in late adolescence. Memory, 21(2), 280-284. doi: 10.1080/09658211.2012.729598 ] and that the age in decontextualised snippets of memory is younger than in more complete accounts (i.e., event memories [Bruce, D., Wilcox-O'Hearn, L. A., Robinson, J. A., Phillips-Grant, K., Francis, L., & Smith, M. C. (2005). Fragment memories mark the end of childhood amnesia. Memory & Cognition, 33(4), 567-576. doi: 10.3758/BF03195324 ]). We examined the malleability of the estimated age in undergraduates' earliest memories and its relation with memory quality. In Study 1 (n = 141), vignettes referring to events happening at age 2 rendered earlier reported ages than examples referring to age 6. Exploratory analyses suggested that event memories were more sensitive to the age manipulation than memories representing a single, isolated scene (i.e., snapshots). In Study 2 (n = 162), asking self-relevant and public-event knowledge questions about participants' preschool years prior to retrieval yielded comparable average estimated ages. Both types of semantic knowledge questions rendered earlier memories than a no-age control task. Overall, the reported age in snapshots was younger than in event memories. However, age-differences between memory types across conditions were not statistically significant. Together, the results add to the growing literature indicating that the average age in earliest memories is not as fixed as previously thought.
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The epigenomics of polycystic ovarian syndrome: from pathogenesis to clinical manifestations.
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.
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Neuropsychiatric Manifestations of Scrub Typhus.
Mahajan, Sanjay K; Mahajan, Sanyam K
2017-01-01
Scrub typhus is caused by Orientia tsutsugamushi characterized by focal or disseminated vasculitis and perivasculitis which may involve the lungs, heart, liver, spleen and central nervous system. It was thought to have been eradicated from India. Recently it is being reported from many areas of India. The clinical picture and severity of the symptoms varies widely. The neurological manifestations of scrub typhus are not uncommon but are diverse. Meningoencephalitis is classical manifestation of scrub typhus but cerebellitis, cranial nerve palsies, plexopathy, transverse myelitis, neuroleptic malignant syndrome and Guillan-Barré syndrome are other manifestations reported in literature. The availability of literature on the neurological manifestations of scrub typhus is limited to case reports mainly. This article reviews various neurological manifestations of scrub typhus reported in literature.
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Orthostatic hypotension as an unusual clinical manifestation of pheochromocytoma: a case report.
Bortnik, Miriam; Occhetta, Eraldo; Marino, Paolo
2008-08-01
Pheochromocytoma is a rare endocrine tumor which can have a highly variable presentation related to increased catecholamine secretion. We report the case of a 74-year-old man in whom recurrent episodes of syncope due to orthostatic hypotension were the only clinical manifestations of this challenging entity. Diagnosis of pheochromocytoma was achieved by biochemical test samples and computed tomography scans. Surgical excision of the tumor resulted in clinical improvement with normalization of catecholamine concentrations and no more episodes of orthostatic hypotension during a follow-up of 24 months. Although rare, pheochromocytoma may frequently cause disorders of orthostatic tolerance; because of its meaningful implications, screening for this entity should be considered in case of recurrent syncopal episodes due to new-onset orthostatic hypotension.
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Manifestations of Lyme carditis.
Kostić, Tomislav; Momčilović, Stefan; Perišić, Zoran D; Apostolović, Svetlana R; Cvetković, Jovana; Jovanović, Andriana; Barać, Aleksandra; Šalinger-Martinović, Sonja; Tasić-Otašević, Suzana
2017-04-01
The first data of Lyme carditis, a relatively rare manifestation of Lyme disease, were published in eighties of the last century. Clinical manifestations include syncope, light-headedness, fainting, shortness of breath, palpitations, and/or chest pain. Atrioventricular (AV) electrical block of varying severity presents the most common conduction disorder in Lyme carditis. Although is usually mild, AV block can fluctuates rapidly and progress from a prolonged P-R interval to a His-Purkinje block within minutes to hours and days. Rarely, Lyme disease may be the cause of endocarditis, while some studies and reports, based on serological and/or molecular investigations, have suggested possible influence of Borrelia burgdorferi on degenerative cardiac valvular disease. Myocarditis, pericarditis, pancarditis, dilated cardiomyopathy, and heart failure have also been described as possible manifestations of Lyme carditis. The clinical course of Lyme carditis is generally mild, short term, and in most cases, completely reversible after adequate antibiotic treatment. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.
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Fibroadenoma in axilla: another manifestation of ectopic breast
Tiwary, Satyendra K; Kumar, Puneet; Khanna, Ajay Kumar
2015-01-01
Fibroadenoma of an accessory breast is a rare disease. The clinical significance lies in the fact that a number of cystic, inflammatory, neoplastic diseases similar to those of a normal breast have been reported in accessory breasts as well. Vigilant self-assessment and complete clinical examination are always encouraged to detect earliest malignancy in the axilla. We report two cases of ectopic breast fibroadenoma with the relevant literature. PMID:25917072
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Neuropsychiatric Manifestations of Scrub Typhus
Mahajan, Sanjay K.; Mahajan, Sanyam K.
2017-01-01
Scrub typhus is caused by Orientia tsutsugamushi characterized by focal or disseminated vasculitis and perivasculitis which may involve the lungs, heart, liver, spleen and central nervous system. It was thought to have been eradicated from India. Recently it is being reported from many areas of India. The clinical picture and severity of the symptoms varies widely. The neurological manifestations of scrub typhus are not uncommon but are diverse. Meningoencephalitis is classical manifestation of scrub typhus but cerebellitis, cranial nerve palsies, plexopathy, transverse myelitis, neuroleptic malignant syndrome and Guillan-Barré syndrome are other manifestations reported in literature. The availability of literature on the neurological manifestations of scrub typhus is limited to case reports mainly. This article reviews various neurological manifestations of scrub typhus reported in literature. PMID:28694624
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Tessier, C; Sweers, K; Frajerman, A; Bergaoui, H; Ferreri, F; Delva, C; Lapidus, N; Lamaziere, A; Roiser, J P; De Hert, M; Nuss, P
2016-10-04
Schizophrenia is a severe mental condition in which several lipid abnormalities-either structural or metabolic-have been described. We tested the hypothesis that an abnormality in membrane lipid composition may contribute to aberrant dopamine signaling, and thereby symptoms and cognitive impairment, in schizophrenia (SCZ) patients. Antipsychotic-medicated and clinically stable SCZ outpatients (n=74) were compared with matched healthy subjects (HC, n=40). A lipidomic analysis was performed in red blood cell (RBC) membranes examining the major phospholipid (PL) classes and their associated fatty acids (FAs). Clinical manifestations were examined using the positive and negative syndrome scale (PANSS). Cognitive function was assessed using the Continuous Performance Test, Salience Attribution Test and Wisconsin Card Sorting Test. Sphingomyelin (SM) percentage was the lipid abnormality most robustly associated with a schizophrenia diagnosis. Two groups of patients were defined. The first group (SCZ c/SM-) is characterized by a low SM membrane content. In this group, all other PL classes, plasmalogen and key polyunsaturated FAs known to be involved in brain function, were significantly modified, identifying a very specific membrane lipid cluster. The second patient group (SCZ c/SM+) was similar to HCs in terms of RBC membrane SM composition. Compared with SCZ c/SM+, SCZ c/SM- patients were characterized by significantly more severe PANSS total, positive, disorganized/cognitive and excited psychopathology. Cognitive performance was also significantly poorer in this subgroup. These data show that a specific RBC membrane lipid cluster is associated with clinical and cognitive manifestations of dopamine dysfunction in schizophrenia patients. We speculate that this membrane lipid abnormality influences presynaptic dopamine signaling.
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Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.
Ferreli, Caterina; Gasparini, Giulia; Parodi, Aurora; Cozzani, Emanuele; Rongioletti, Franco; Atzori, Laura
2017-12-01
Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations. This article reviews the clinical presentation with emphasis on cutaneous disease, etiopathogenesis, diagnosis, and treatment options available for the different forms of scleroderma firstly and for scleroderma-like disorders, including scleromyxedema, scleredema, nephrogenic systemic fibrosis, eosinophilic fasciitis, chronic graft-versus-host disease, porphyria cutanea tarda, diabetic stiff-hand syndrome (diabetic cheiroartropathy), and other minor forms. This latter group of conditions, termed also scleroderma mimics, sclerodermiform diseases, or pseudosclerodermas, shares the common thread of skin thickening but presents with distinct cutaneous manifestations, skin histology, and systemic implications or disease associations, differentiating each entity from the others and from scleroderma. The lack of Raynaud's phenomenon, capillaroscopic abnormalities, or scleroderma-specific autoantibodies is also important diagnostic clues. As cutaneous involvement is the earliest, most frequent and characteristic manifestation of scleroderma and sclerodermoid disorders, dermatologists are often the first-line doctors who must be able to promptly recognize skin symptoms to provide the affected patient a correct
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Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations
Al Shibli, Amar; Narchi, Hassib
2015-01-01
Bartter and Gitelman syndromes (BS and GS) are inherited disorders resulting in defects in renal tubular handling of sodium, potassium and chloride. Previously considered as genotypic and phenotypic heterogeneous diseases, recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each condition. Although they share some characteristic metabolic abnormalities such as hypokalemia, metabolic alkalosis, hyperplasia of the juxtaglomerular apparatus with hyperreninemia, hyperaldosteronism, the clinical and laboratory manifestations may not always allow distinction between them. Diuretics tests, measuring the changes in urinary fractional excretion of chloride from baseline after administration of either hydrochlorothiazide or furosemide show very little change (< 2.3%) in the fractional excretion of chloride from baseline in GS when compared with BS, except when BS is associated with KCNJ1 mutations where a good response to both diuretics exists. The diuretic test is not recommended for infants or young children with suspected BS because of a higher risk of volume depletion in such children. Clinical symptoms and biochemical markers of GS and classic form of BS (type III) may overlap and thus genetic analysis may specify the real cause of symptoms. However, although genetic analysis is available, its use remains limited because of limited availability, large gene dimensions, lack of hot-spot mutations, heavy workup time and costs involved. Furthermore, considerable overlap exists between the different genotypes and phenotypes. Although BS and GS usually have distinct presentations and are associated with specific gene mutations, there remains considerable overlap between their phenotypes and genotypes. Thus, they are better described as a spectrum of clinical manifestations caused by different gene mutations. PMID:26140272
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Zhou, Jing; Ke, Lu; Yang, Dongliang; Chen, Yizhe; Li, Gang; Tong, Zhihui; Li, Weiqin; Li, Jieshou
Splanchnic venous thrombosis (SVT) is a relatively rare but important complication of necrotizing acute pancreatitis (NAP). Clinical manifestations and severity of this complication in different patients vary greatly, ranging from mild abdominal discomfort even asymptomatic to lethal gastrorrhagia or hepatic failure. The aim of the present study was to develop a model to predict the clinical manifestations of SVT in NAP patients. This retrospective cohort study was conducted in the surgical intensive care unit (SICU) of Jinling Hospital. Patients with the presence of both pancreatic necrosis and SVT were selected for possible inclusion. Both univariate and multivariate logistic regression analyses were applied using 12 indices including age, gender, Acute Physiology and Chronic Health Evaluation II scores (APACHE II), CRP(C - reactive protein) levels, etc to assess potential predictors for symptomatic pancreatic splanchnic venous thrombosis (PSVT) in this cohort. A prognostic nomogram was also applied to develop an easy-to-use prediction model. A total of 104 patients with necrotizing acute pancreatitis (NAP) and splanchnic vein thrombosis (SVT) from January 2012 to December 2013 were enrolled for analysis. A quarter of study subjects (26 of 104, 25%) developed variable symptomatic manifestations including variceal bleeding, persistent ascites and enteral nutrition (EN) intolerance during the disease course. In the multivariable regression model, the following factors were found to be associated with the occurrence of symptomatic SVT: Balthazar's computed tomography (CT) score (OR = 1.818; 95% CI: 1.251-2.641; P = 0.002), intra-abdominal pressure (IAP) (OR = 1.172; 95% CI: 1.001-1.251; P = 0.043 and presence of SMVT (OR = 6.946; 95% CI: 2.290-21.074; P = 0.001). A prediction model incorporating these factors demonstrated an area under the receiver operating characteristic curve of 0.842. Balthazar's CT score, IAP and SMVT are predictors of symptomatic
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NASA Astrophysics Data System (ADS)
Marpaung, B.; Patrick, J.
2018-03-01
Systemic Lupus Erythematosus (SLE) is an autoimmune rheumatic disease characterized by widespread inflammation and affects any organism the body. Many autoimmune diseases result in autoantibody production, but Anti-dsDNA antibodies are highly specific to SLE. Previous study found that Anti-dsDNA antibodies are associated with severe clinical manifestations of lupus. The aim of this study was to examine the relationship between anti-dsDNA level with clinical features and laboratory findings in SLE patients. This cross-sectional study was conducted in Hospital Haji Adam Malik Medan in May-October 2016.We examine anti-dsDNA, clinical features and kidney laboratory profile in all patient. Data were statistically analyzed.81 SLE patients with median level of anti-dsDNA 294 (6.1-1317). There was no significant relationship between increased level of Anti-dsDNA with clinical manifestations (p>0.05). There were significant relationships between increased level of Anti-dsDNA with renal impairment (p=0.049), urea level (p=0.016), urine protein (p=0.042) and hematology disorder (p=0.005). Arthritis is the most frequent clinical manifestation (96.3%) followed by malar rash (77.8%). Elevated anti-dsDNA level was not related with clinical manifestations but there was significant relationship with hematology disorder, urea, creatinine, and proteinuria in SLE patents.
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[Cardiovascular manifestations of human toxocariasis].
Bolívar-Mejía, Adrián; Rodríguez-Morales, Alfonso J; Paniz-Mondolfi, Alberto E; Delgado, Olinda
2013-01-01
Toxocariasis is a parasitic infection produced by helminths that cannot reach their adult stage in humans. For their etiological species (Toxocara canis and Toxocara cati), man is a paratenic host. Infection by such helminths can produce a variety of clinical manifestations, such as: visceral larvae migrans syndrome, ocular larvae migrans syndrome and covert toxocariasis. In the visceral larvae migrans syndrome, the organs that are mainly involved include liver, lungs, skin, nervous system, muscles, kidneys and the heart. Regarding the latter, the importance of cardiovascular manifestations in toxocariasis, as well as its clinical relevance, has increasingly begun to be recognized. The current article is based on a systematic information search, focused mainly on the clinical and pathological aspects of cardiovascular manifestations in toxocariasis, including its pathophysiology, laboratory findings, diagnosis and therapeutical options, with the objective of highlighting its importance as a zoonosis and its relevance to the fields of cardiovascular medicine in adults and children. Copyright © 2012 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.
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Clinical Manifestations and the Natural History of HIV Infection in Adults
Piot, Peter; Colebunders, Robert
1987-01-01
The clinical expression of infection with the human immunodeficiency virus (HIV) appears increasingly complex. It includes manifestations due to opportunistic diseases, as well as illness directly caused by HIV itself. Neurologic disease may include involvement of the brain, spinal cord and peripheral nerves and is probably directly caused by HIV, as is lymphocytic interstitial pneumonia. The etiology of the chronic diarrhea and a papular pruritic skin eruption associated with HIV infection is unclear. Between 2% and 8% of HIV-infected persons progress to the acquired immunodeficiency syndrome (AIDS) per year, with no apparent decrease in the rate of disease progression over time. A chronically activated state secondary to chronic microbial antigenic exposure may increase both the susceptibility to HIV infection and development of disease. Increased HIV gene expression, followed by persistent antigenemia, appear to be triggering factors in clinical deterioration. The role, if any, of environmental and/or genetic cofactors remains unclear. Images PMID:3433753
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Aspergillus osteomyelitis: epidemiology, clinical manifestations, management, and outcome.
Gamaletsou, Maria N; Rammaert, Blandine; Bueno, Marimelle A; Moriyama, Brad; Sipsas, Nikolaos V; Kontoyiannis, Dimitrios P; Roilides, Emmanuel; Zeller, Valerie; Prinapori, Roberta; Taj-Aldeen, Saad J; Brause, Barry; Lortholary, Olivier; Walsh, Thomas J
2014-05-01
The epidemiology, pathogenesis, diagnosis, and management of Aspergillus osteomyelitis are not well understood. Protocol-defined cases of Aspergillus osteomyelitis published in the English literature were reviewed for comorbidities, microbiology, mechanisms of infection, clinical manifestations, radiological findings, inflammatory biomarkers, antifungal therapy, and outcome. Among 180 evaluable patients, 127 (71%) were males. Possible predisposing medical conditions in 103 (57%) included pharmacological immunosuppression, primary immunodeficiency, and neutropenia. Seventy-three others (41%) had prior open fracture, trauma or surgery. Eighty (44%) followed a hematogenous mechanism, 58 (32%) contiguous infections, and 42 (23%) direct inoculation. Aspergillus osteomyelitis was the first manifestation of aspergillosis in 77%. Pain and tenderness were present in 80%. The most frequently infected sites were vertebrae (46%), cranium (23%), ribs (16%), and long bones (13%). Patients with vertebral Aspergillus osteomyelitis had more previous orthopedic surgery (19% vs 0%; P = 0.02), while those with cranial osteomyelitis had more diabetes mellitus (32% vs 8%; P = 0.002) and prior head/neck surgery (12% vs 0%; P = 0.02). Radiologic findings included osteolysis, soft-tissue extension, and uptake on T2-weighted images. Vertebral body Aspergillus osteomyelitis was complicated by spinal-cord compression in 47% and neurological deficits in 41%. Forty-four patients (24%) received only antifungal therapy, while 121 (67%) were managed with surgery and antifungal therapy. Overall mortality was 25%. Median duration of therapy was 90 days (range, 10-772 days). There were fewer relapses in patients managed with surgery plus antifungal therapy in comparison to those managed with antifungal therapy alone (8% vs 30%; P = 0.006). Aspergillus osteomyelitis is a debilitating infection affecting both immunocompromised and immunocompetent patients. The most common sites are vertebrae, ribs, and
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Kumar, Sumit; Singh, Jagmohan; Rattan, Satish; DiMarino, Anthony J; Cohen, Sidney; Jimenez, Sergio A.
2017-01-01
SUMMARY Background Gastrointestinal tract involvement is a common cause of debilitating symptoms in patients with systemic sclerosis. There are no disease modifying therapies for this condition and the treatment remains symptomatic, largely owing to the lack of a clear understanding of its pathogenesis. Aim To investigate novel aspects of the pathogenesis of gastrointestinal involvement in systemic sclerosis To summarize existing knowledge regarding the cardinal clinical gastrointestinal manifestations of systemic sclerosis and its pathogenesis, emphasizing recent investigations that may be valuable in identifying potentially novel therapeutic targets. Methods Electronic (Pubmed/Medline) and manual Google search Results The gastrointestinal tract is the most common internal organ involved in systemic sclerosis. Any part of the gastrointestinal tract from the mouth to the anus can be affected. There is substantial variability in clinical manifestations and disease course and symptoms are non-specific and overlapping for a particular anatomical site. Gastrointestinal involvement can occur in the in the absence of cutaneous disease. Up to 8% of systemic sclerosis patients develop severe gastrointestinal tract symptoms. This subset of patients display increased mortality with only 15% survival at 9 years. Dysmotiity of the gastrointestinal tract causes the majority of symptoms. Recent investigations have identified a novel mechanism in the pathogenesis of gastrointestinal tract dysmotility mediated by functional anti-muscarinic receptor autoantibodies. Conclusion Despite extensive investigation the pathogenesis of gastrointestinal involvement in systemic sclerosis remains elusive. Although treatment currently remains symptomatic, an improved understanding of novel pathogenic mechanisms may allow the development of potentially highly effective approaches including intravenous immunoglobulin and microRNA based therapeutic interventions. PMID:28185291
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Sleep quality, clinical and psychological manifestations in women with systemic lupus erythematosus.
Moraleda, Virginia; Prados, Germán; Martínez, María P; Sánchez, Ana I; Sabio, José M; Miró, Elena
2017-10-01
Sleep problems are a common complaint in systemic lupus erythematosus (SLE) patients. We analyzed sleep quality with subjective and objective measures in a sample with SLE and its possible relationships with the main manifestations of the disease. Twenty-one women with SLE and 20 healthy women participated in the study. All participants were evaluated with actigraphy for a week and they completed self-report instruments of sleep quality, quality of life, fatigue, anxiety, depression and perceived stress. Comparison analyses between the two groups were done using Chi-square and Student's t-tests. The association between sleep quality and the remaining variables was explored using Pearson correlation coefficients. SLE patients had higher fragmentation index in the actigraphic analysis and a perception of poorer sleep quality, more fatigue, anxiety and depression than the control group. Bivariate analyses showed that the perception of more sleep disturbance and daytime dysfunction was associated with a lower health-related quality of life, more fatigue, emotional discomfort and more perceived stress. Also, the fragmentation index in the actigraphy was significantly related to the perception of poorer quality of sleep. SLE women had a poorer sleep quality (objective and subjective). These alterations could play a modulatory role in clinical and psychological manifestations of the disease and affect the quality of life in this population. More research is needed to clarify these relations and to determine the potential benefits of interventions directed to improve sleep in the clinical managing of the patients with SLE. © 2017 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.
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[The clinical characteristics of the early manifestations of radiation exposure in children].
Evdokimov, I K
1993-11-01
The article substantiates the necessity to conduct the thorough study not only of the remote consequences of the Chernobyl APS disaster, but also of the early clinical manifestations of radiation influence in children, as a most vulnerable group in respect to radiation. Age factor is considered to be one of the dominant features which influence upon the absorptive capacity of thyroid gland in respect to radioiodine, and thus provoking a high vulnerability of children in crisis situations. The authors study hematological peculiarities of radioreactions in children and adults. There are recommendations for preventing the reception of radionuclides by babies during lactation.
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[Neurological manifestations of Whipple disease].
Vital Durand, D; Gérard, A; Rousset, H
2002-10-01
Whipple disease is an uncommon chronic bacterial infection due to Tropheryma whipplei. Clinical manifestations are protean (joint pain, fever, weight loss, abdominal pain, lymphadenopathies), and the diagnosis is often delayed. Although previously considered a late manifestation of Whipple disease, neurological involvement is now frequently the initial clinical manifestation and represents the greatest risk for long-term disability. All patients should be treated and monitored as if they had central nervous system disease even if they are asymptomatic. Neurological manifestations include dementia (56 percent), abnormalities of eye movements (33p. cent), involuntary movements (28 percent), seizures, hypothalamic dysfunction, myelopathy, ataxia and psychiatric manifestations. Uveitis, retinitis, optic neuritis and papilloedema may be found. 80 percent of the reported cases of neuro-Whipple had associated systemic symptoms or signs but many patients are presenting without concurrent intestinal manifestation. Thus, the disease may remain undiagnosed or misdiagnosed, as rheumatoid arthritis or sarcoidosis. Traditionally, the diagnostic procedure of choice is biopsy of the duodenal mucosa by demonstrating PAS-positive foamy macrophages. However, not all cases have small bowel infiltration and tissue obtained from sites clinically affected may be helpful. CT and MR images of the central nervous system are normal or not specific: atrophic changes, mass lesions, focal abnormalities and hydrocephalus. The application of a PCR assay against Tropheryma whipplei has transformed the diagnosis. Positive results have been obtained from several tissues and from CSF and PCR is more sensitive than other techniques. All patients must be treated with antibiotics which cross the blood-brain barrier. Most agree that initial treatment with a combination of parenteral penicillin and streptomycin for at least 14 days is appropriate, thereafter cotrimoxazole orally 3 times a day for at least
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Ganji-Arjenaki, Mahboube; Nasri, Hamid; Rafieian-Kopaei, Mahmoud
2017-07-01
The extra-intestinal manifestations of inflammatory bowel disease (IBD) are common and involve other organs or systems for example; urinary system. For this review, we used a variety of sources by searching through Web of Science, PubMed, EMBASE, Scopus and directory of open access journals (DOAJ). Urinary complications may occur in up to 22% of patients and nephrolithiasis or renal/kidney stones have been suggested to be a common manifestation of disease in forms of uric acid, calcium phosphate or calcium oxalate. We performed a meta-analysis on five clinical trials and reported that correlation between IBD and formation of stone in renal system is positive and significant (Fix-effect model; CI: 95%, P <0.001, and randomeffect model; CI: 95%, P = 0.03). Based on the reports of the clinical trials, calcium oxalate is more prevalent in Crohn's disease (CD) than in ulcerative colitis (UC).
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Wassink, Annemarie M; van der Graaf, Yolanda; Janssen, Kristel J; Cook, Nancy R; Visseren, Frank L
2012-12-01
Although the overall average 10-year cardiovascular risk for patients with manifest atherosclerosis is considered to be more than 20%, actual risk for individual patients ranges from much lower to much higher. We investigated whether information on metabolic syndrome (MetS) or its individual components improves cardiovascular risk stratification in these patients. We conducted a prospective cohort study in 3679 patients with clinical manifest atherosclerosis from the Secondary Manifestations of ARTerial disease (SMART) study. Primary outcome was defined as any cardiovascular event (cardiovascular death, ischemic stroke or myocardial infarction). Three pre-specified prediction models were derived, all including information on established MetS components. The association between outcome and predictors was quantified using a Cox proportional hazard analysis. Model performance was assessed using global goodness-of-fit fit (χ(2)), discrimination (C-index) and ability to improve risk stratification. A total of 417 cardiovascular events occurred among 3679 patients with 15,102 person-years of follow-up (median follow-up 3.7 years, range 1.6-6.4 years). Compared to a model with age and gender only, all MetS-based models performed slightly better in terms of global model fit (χ(2)) but not C-index. The Net Reclassification Index associated with the addition of MetS (yes/no), the dichotomous MetS-components or the continuous MetS-components on top of age and gender was 2.1% (p = 0.29), 2.3% (p = 0.31) and 7.5% (p = 0.01), respectively. Prediction models incorporating age, gender and MetS can discriminate between patients with clinical manifest atherosclerosis at the highest vascular risk and those at lower risk. The addition of MetS components to a model with age and gender correctly reclassifies only a small proportion of patients into higher- and lower-risk categories. The clinical utility of a prediction model with MetS is therefore limited.
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Sasmono, R Tedjo; Perkasa, Aditya; Yohan, Benediktus; Haryanto, Sotianingsih; Yudhaputri, Frilasita A; Hayati, Rahma F; Ma'roef, Chairin Nisa; Ledermann, Jeremy P; Aye Myint, Khin Saw; Powers, Ann M
2017-11-01
Chikungunya fever (CHIK) is an acute viral infection caused by infection with chikungunya virus (CHIKV). The disease affects people in areas where certain Aedes species mosquito vectors are present, especially in tropical and subtropical countries. Indonesia has witnessed CHIK disease since the early 1970s with sporadic outbreaks occurring throughout the year. The CHIK clinical manifestation, characterized by fever, headache, and joint pain, is similar to that of dengue (DEN) disease. During a molecular study of a DEN outbreak in Jambi, Sumatra, in early 2015, DENV-negative samples were evaluated for evidence of CHIKV infection. Among 103 DENV-negative samples, eight samples were confirmed (7.8%) as positive for CHIKV by both molecular detection and virus isolation. The mean age of the CHIK patients was 21.3 ± 9.1 (range 11-35 years). The clinical manifestations of the CHIK patients were mild and mimicked DEN, with fever and headache as the main symptoms. Only three out of eight patients presented with classical joint pain. Sequencing of the envelope glycoprotein E1 gene and phylogenetic analysis identified all CHIKV isolates as belonging to the Asian genotype. Overall, our study confirms sustained endemic CHIKV transmission and the presence of multiple arboviruses circulating during a DEN outbreak in Indonesia. The co-circulation of arboviruses poses a public health threat and is likely to cause misdiagnosis and underreporting of CHIK in DEN-endemic areas such as Indonesia.
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Spirrison, C L; McCarley, N G
2001-09-01
The present study examined relationships between the age at earliest memory and the personality traits and behavioral health of 107 undergraduates. Participants answered questions on their earliest memory and completed the Myers-Briggs Type Indicator (MBTI) and a medical history form. Analyses indicated that continuous scores on two MBTI scales (Sensing-Intuition and Judging-Perceiving) were inversely related to age at earliest memory as were participant's self-reported drug and alcohol problems, emotional and psychological symptoms, accident rates, physical symptoms, and satisfaction with health. Respondents who reported first memories at or after 7 years of age (i.e., approximately 1 SD above the mean age at recalled memory) were classified as repressors. Repressors scored in the Sensing and Judging directions on the MBTI and reported significantly fewer emotional symptoms, accidents, psychological symptoms, and less health satisfaction than nonrepressors. Results are consistent with the age at earliest memory and repression literature and support the use of earliest memory age as an index of repression.
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Cepedano Dans, A; Barreiro Conde, J; Pombo Arias, M
2005-02-01
To determine the epidemiology, clinical manifestations and laboratory results at onset of type 1 diabetes mellitus in children aged 0-14 years from January 2001 to December 2002. All children younger than 14 years old living in Galicia (Spain) and admitted to one of the hospitals of the Galician health service with a diagnosis of type 1 diabetes mellitus from 2001-2002 were included. A questionnaire was administered to collect data on age, sex, place of residence, associated autoimmune disorders, family history, clinical manifestations before onset and their duration, and biochemical parameters at diagnosis (glycemia, HbA1c, pH and bicarbonate). A total of 109 children were diagnosed (48 girls and 61 boys). The annual incidence (per 100,000 pediatric inhabitants) was 17.6. A higher frequency was found in winter (33 %) and spring (26 %) than in autumn (21.3 %) and summer (20.3 %). Admissions were most frequent among 5-9 year-olds (40.3 %), followed by 10-14 year-olds (33 %) and 0-4 year-olds (26.6 %). The most frequent clinical manifestations were polyuria and polydipsia (95.8 %). Nycturia or enuresis and weight loss were also described. The mean duration of these symptoms was 25.4 days in the group of children aged between 10-14 years old, 21.7 days in those aged 5-9 years old and 13.6 days in those younger than 4 years old. In one-third of the patients, the initial presentation was ketoacidosis. The incidence of type 1 diabetes mellitus among Galician children is high. The interval between the onset of the first symptoms and diagnosis is long. In 31.7 % of the patients, the initial event was ketoacidosis.
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Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J; Gardarsdottir, Marianna; Teekakirikul, Polakit; Maron, Martin; Appelbaum, Evan; Neisius, Ulf; Maron, Barry J; Burke, Michael A; Chen, Brenden; Pagant, Silvere; Madsen, Christoffer V; Danielsen, Ragnar; Arngrimsson, Reynir; Feldt-Rasmussen, Ulla; Seidman, Jonathan G; Seidman, Christine E; Gunnarsson, Gunnar Th
2017-08-01
The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA (α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes). Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation. In vitro expression revealed that p.D322E and p.I232T had α-GalA activities of 1.4% and 14.9% of the mean wild-type activity, respectively. Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. Family B men had residual α-GalA activity and developed FD manifestations in adulthood. Despite these differences, all family A and family B men >30 years of age had left ventricular hypertrophy, which was mainly asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations. Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities. © 2017 American Heart Association, Inc.
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Tseng, Shi-Ting; Yao, Tsung-Chieh; Huang, Jing-Long; Yeh, Kuo-Wei; Hwang, Yih-Shiou
2017-12-01
Uveitis can be a local eye disease or a manifestation of systemic rheumatologic disorders. However, the differences of clinical manifestations between uveitis patients with or without systemic rheumatologic disease have been seldom described in literature. We investigated the clinical features and complications of rheumatic disease-related uveitis, and compared the characteristics in patients with and without rheumatic disease in a Chinese population in Taiwan. A retrospective review was performed for all patients who had been diagnosed with uveitis between January 2009 and June 2014 at the Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan. A total of 823 uveitis patients were enrolled in the study, including 123 patients with rheumatic diseases. The most frequent rheumatic diseases included ankylosing spondylitis (5.8%), followed by Behçet's disease (2.8%), sarcoidosis (1.4%), psoriasis (1.1%), and juvenile idiopathic arthritis (1.1%). Compared with patients without rheumatic disease, those with rheumatic disease-related uveitis had a lower mean age at onset (35.1 ± 15.8 years vs. 44.0 ± 17.5 years), a longer follow-up period (27.1 ± 25.3 months vs. 22.2 ± 23.0 months), a higher incidence of anterior uveitis (69.0% vs. 46.3%), less frequent posterior uveitis (4.9% vs. 21.4%), a higher incidence of recurrence (26.8% vs. 14.1%), more frequent bilateral involvement (53.7% vs. 38.8%), and more frequent posterior synechiae (17.2% vs. 9.4%). The disease course and clinical manifestations of rheumatic disease-related uveitis were different from those unrelated. Patients with rheumatic disease-related uveitis had a higher recurrent rate and more frequent posterior synechiae than patients without rheumatic diseases. Copyright © 2015. Published by Elsevier B.V.
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Ellithy, Hend N; Yousri, Sherif; Shahin, Gehan H
2015-12-01
Clinical manifestations of sickle cell disease (SCD) result from sickling of Hb S due to oxidation, which is augmented by accumulation of oxygen-free radicals. Deficiencies in normal antioxidant protective mechanism might lead to clinical manifestations of SCD like vaso-occlusive crisis (VOC) and acute chest syndrome (ACS). The glutathione system plays an important role in the removal of endogenous products of peroxidation of lipids, thus protecting cells and tissue against damage from oxidative stress. Impairment of the glutathione system due to genetic polymorphisms of glutathione S-transferase (GST) genes is expected to increase the severity of SCD manifestations. This report describes a case control study aimed at studying the ethnic-dependent variation in the frequency of GST gene polymorphisms among participants selected from the Egyptian population and to find out the association between GST gene polymorphisms and the severity of SCD manifestations. We measured the frequency distribution of the three GSTs gene polymorphisms in 100 Egyptian adult SCD patients and 80 corresponding controls. GSTM1 and GSTT1 genotypes were determined by multiplex polymerase chain reaction (PCR). GSTP1 genotyping was conducted with a PCR-restriction fragment length polymorphism assay. The GSTM1 null genotype was significantly associated with ACS and VOC (P = 0.03 and 0.01, respectively). The GSTT1 null genotype was associated with significantly increased requirement of blood transfusion (P = 0.01). Absence of both GSTM1 and GSTT1 genes was significantly associated with pulmonary hypertension (P = 0.04). The non-wild-type GSTP1 polymorphism was not associated with clinical manifestations of SCD. Some GST gene polymorphisms were significantly associated with the worsening of the clinical manifestations of SCD.
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Beulens, J W J; Algra, A; Soedamah-Muthu, S S; Visseren, F L J; Grobbee, D E; van der Graaf, Y
2010-09-01
This study investigated the relation between alcohol consumption and specific vascular events and mortality in a high risk population of patients with clinical manifestations of vascular disease and diabetes. Patients with clinically manifest vascular disease or diabetes (n=5447) from the SMART study were followed for cardiovascular events and mortality. Alcohol consumption was assessed with a baseline questionnaire and analysed in relation with coronary heart disease (CHD), amputations, stroke, and all-cause and vascular death. After a follow up of 4.7 years, we documented 363 cases of CHD, 187 cases of stroke, 79 amputations and 641 cases of all-cause death, of which 382 were vascular. In multivariate-adjusted models, alcohol consumption was inversely associated with CHD (p(linear trend)=0.007) and stroke (p(linear trend)=0.051) with respective hazard ratios of 0.39 (95%CI: 0.20-0.76) and 0.67 (0.31-1.46) for consuming 10-20 drinks/week compared with abstainers. We observed significant U-shaped associations between alcohol consumption and amputations (p(quadratic trend)=0.001), all-cause death (p(quadratic trend)=0.001) and vascular death (p(quadratic trend)=0.013). Hazard ratios for consuming 10-20 drinks/week were 0.29 (0.07-1.30) for amputations, 0.40 (0.24-0.69) for all-cause death and 0.34 (0.16-0.71) for vascular death compared with abstainers. Similar associations were observed for red wine consumption only. Moderate alcohol consumption (1-2 drinks/day) is not only associated with a reduced risk of vascular and all-cause death in a high risk patients with clinical manifestations of vascular disease, but also with reduced risks of non-fatal events like CHD, stroke and possibly amputations. Copyright 2010 Elsevier Ireland Ltd. All rights reserved.
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Severe hypertension and hypokalemia as first clinical manifestations in ectopic Cushing's syndrome.
Fernández-Rodríguez, Eva; Villar-Taibo, Rocío; Pinal-Osorio, Iria; Cabezas-Agrícola, José Manuel; Anido-Herranz, Urbano; Prieto, Alma; Casanueva, Felipe F; Araujo-Vilar, David
2008-08-01
Ectopic ACTH production occurs in about 10% of all cases of Cushing's syndrome, and about 25% of cases of ACTH-dependent Cushing's syndrome. Diverse tumor types are able to produce ACTH ectopically, including small cell lung carcinoma. Ectopic ACTH secretion by malignant neoplasm has been reported to have earlier and more aggressive metabolic effects. We report a 59-year-old male patient with severe hypertension, metabolic alkalosis and hypokalemia as the first clinical manifestations of an ACTH-secreting small cell lung carcinoma, although the typical phenotypic features of Cushing's syndrome were not present. Ectopic Cushing's syndrome should always be ruled out in patients with severe hypertension and hypokalemia.
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Leng, Xiaomei; Li, Mengtao; Li, Xiangpei; Zhang, Xiao; Liu, Shengyun; Wu, Lijun; Ma, Li; Bi, Liqi; Zuo, Xiaoxia; Sun, Lingyun; Huang, Cibo; Zhao, Jiuliang; Zhao, Yan; Zeng, Xiaofeng
2018-01-01
This study aimed to examine the associations between family history and clinical manifestations and immunologic characteristics of lupus in China. Based on their family history, lupus patients from the Chinese lupus treatment and research group (CSTAR) registry were categorised: familial lupus (FL), family history of other rheumatic disorders (RD), and sporadic lupus (SL). Demographic data, clinical manifestations, and laboratory data were compared among these three groups. A total of 2,104 patients from CSTAR were included, with 34 (1.6%) in the FL group, 50 (2.4%) in the RD group, and 2,020 (96.0%) in the SL group. There were no significant differences in age or gender among these groups (p=0.36 and p=0.75, respectively). The prevalence of discoid rash and positivity of anti-RNP antibodies differed significantly among the three groups. Photosensitivity and neurological disorder were marginally significantly different among the three groups (p=0.05). No statistical differences were observed in other clinical manifestations or laboratory results. In the FL group, first-degree relatives (25/34, 73.5%) had higher susceptibility to lupus. Rheumatoid arthritis (RA) (35/50, 70.0%) was the most frequent non-lupus rheumatic disorder in the RD group. Among lupus patients, the rate of familial lupus was lower in Chinese patients than among other ethnicities. Familial lupus cases are found mainly among their first-degree relatives. A family history of lupus did not significantly affect clinical phenotypes, except for higher frequency of discoid rash and anti-RNP in the FL group, and more anti-RNP positivity in the RD group.
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Earliest Recollections of Childhood: A Demographic Analysis.
ERIC Educational Resources Information Center
Mullen, Mary K.
1994-01-01
Four questionnaires examined the association of demographic factors with recollection for 768 adults. Found that the age of earliest memory increased across birth order, was slightly earlier for females than for males, and was earlier for Caucasians than for Asians. (Author/BC)
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Clinical Manifestations, Treatment, and Diagnosis of Tropheryma whipplei Infections
Dolmans, Ruben A. V.; Boel, C. H. Edwin; Lacle, Miangela M.
2017-01-01
SUMMARY Whipple's disease is a rare infectious disease that can be fatal if left untreated. The disease is caused by infection with Tropheryma whipplei, a bacterium that may be more common than was initially assumed. Most patients present with nonspecific symptoms, and as routine cultivation of the bacterium is not feasible, it is difficult to diagnose this infection. On the other hand, due to the generic symptoms, infection with this bacterium is actually quite often in the differential diagnosis. The gold standard for diagnosis used to be periodic acid-Schiff (PAS) staining of duodenal biopsy specimens, but PAS staining has a poor specificity and sensitivity. The development of molecular techniques has resulted in more convenient methods for detecting T. whipplei infections, and this has greatly improved the diagnosis of this often missed infection. In addition, the molecular detection of T. whipplei has resulted in an increase in knowledge about its pathogenicity, and this review gives an overview of the new insights in epidemiology, pathogenesis, clinical manifestations, diagnosis, and treatment of Tropheryma whipplei infections. PMID:28298472
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Clinical manifestation and prognosis of active ocular toxoplasmosis in Iran.
Kianersi, Farzan; Naderi Beni, Afsaneh; Naderi Beni, Zahra
2012-12-01
Toxoplasmosis is the most common cause of posterior uveitis in the world. This study described the clinical characteristics and visual outcome of 193 patients with ocular toxoplasmosis at Feiz Hospital (Isfahan, Iran) during the last six years. The setting and design used was a retrospective non-comparative observational case series. In this study, 193 patients with ocular toxoplasmosis (111 female, 82 male) were enrolled. The distribution of symptoms and fundoscopic findings were studied. The most-reported chief complaint was blurred vision in 96 % (184 patients) and floaters in 13.47 % (25 patients) of cases and most frequent clinical manifestations were chorioretinitis 98.48 % (190 patients), macular scars 50.7 % (98 patients), and atrophic optic papilla two (1.03 %) patients. Primary retinal lesions were observed in 16 (8.2 %) and combination of active lesions and old retinochoroidal scars in 177 (91.7 %) of the patients. Retinal detachment occurred in 11 (5.69 %) patients. Bilateral involvement was found in 27 % of patients. Blindness was 0.05 % after treatment. Recurrence rate was 14.5 %. In conclusion, ocular toxoplasmosis substantially varies among patients with different age, gender, site of lesion and other factors. Suddenly blurred vision, floater, and pain could be caused by Toxoplasma gondii. Flashing, may necessitate a more precise peripheral fundus examination.
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The Role of Oxidative Stress in the Clinical Manifestations of Childhood Asthma.
Topic, Aleksandra; Francuski, Djordje; Nikolic, Aleksandra; Milosevic, Katarina; Jovicic, Snezana; Markovic, Bojan; Djukic, Mirjana; Radojkovic, Dragica
2017-08-01
The significance of oxidative stress in pathogenesis of childhood asthma was recognized, but its role in the clinical manifestations of disease is still unclear. The study was conducted in 96 asthmatic children. The urinary biomarker of oxidative stress, 8-oxo-7,8-dihydro-2-deoxyguanosine (8-oxodG/creatinine) was determined by using HPLC-MS/MS. ELISA was performed to measure myeloperoxidase (MPO) and Cu,Zn- superoxide dismutase (Cu,Zn-SOD) in serum. Logistic regression analysis revealed that female gender, tobacco smoke exposure, and increased 8-oxodG/creatinine were associated with risk for intermittent asthma, while the positive allergy test and increased Cu,Zn-SOD were associated with eczema in asthmatic children. Higher MPO (p = 0.033), and percent of granulocytes (p = 0.030) were found in severe persistent asthma in comparison to intermittent or mild persistent asthma. The main findings that TSE-induced oxidative stress is a risk for intermittent asthma and eczema may be clinically significant for the disease prevention and therapeutic improvements.
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Paraneoplastic cutaneous manifestations: concepts and updates*
da Silva, Josenilson Antônio; Mesquita, Kleyton de Carvalho; Igreja, Ana Carolina de Souza Machado; Lucas, Isabella Cristina Rodrigues Naves; Freitas, Aline Ferreira; de Oliveira, Sandra Maximiano; Costa, Izelda Maria Carvalho; Campbell, Iphis Tenfuss
2013-01-01
The skin often signals systemic changes. Some neoplastic diseases that affect internal organs may trigger several cutaneous manifestations. Although these dermatoses are relatively unusual, the recognition of some typical paraneoplastic dermatoses may lead to the early diagnosis of a neoplasm and determine a better prognosis. In this review article, we discuss the paraneoplastic cutaneous manifestations strongly associated with neoplasms, which include acanthosis nigricans maligna, tripe palms, erythema gyratum repens, Bazex syndrome, acquired hypertrichosis lanuginosa, necrolytic migratory erythema, Leser-Trélat sign and paraneoplastic pemphigus. We also review the clinical manifestations of each condition and include updated knowledge on disease pathogenesis. PMID:23538999
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ERIC Educational Resources Information Center
Wang, Qi; Peterson, Carole
2014-01-01
Theories of childhood amnesia and autobiographical memory development have been based on the assumption that the age estimates of earliest childhood memories are generally accurate, with an average age of 3.5 years among adults. It is also commonly believed that early memories will by default become inaccessible later on and this eventually…
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Quinn, Lori; Khalil, Hanan; Dawes, Helen; Fritz, Nora E; Kegelmeyer, Deb; Kloos, Anne D; Gillard, Jonathan W; Busse, Monica
2013-07-01
Clinical intervention trials in people with Huntington disease (HD) have been limited by a lack of reliable and appropriate outcome measures. The purpose of this study was to determine the reliability and minimal detectable change (MDC) of various outcome measures that are potentially suitable for evaluating physical functioning in individuals with HD. This was a multicenter, prospective, observational study. Participants with pre-manifest and manifest HD (early, middle, and late stages) were recruited from 8 international sites to complete a battery of physical performance and functional measures at 2 assessments, separated by 1 week. Test-retest reliability (using intraclass correlation coefficients) and MDC values were calculated for all measures. Seventy-five individuals with HD (mean age=52.12 years, SD=11.82) participated in the study. Test-retest reliability was very high (>.90) for participants with manifest HD for the Six-Minute Walk Test (6MWT), 10-Meter Walk Test, Timed "Up & Go" Test (TUG), Berg Balance Scale (BBS), Physical Performance Test (PPT), Barthel Index, Rivermead Mobility Index, and Tinetti Mobility Test (TMT). Many MDC values suggested a relatively high degree of inherent variability, particularly in the middle stage of HD. Minimum detectable change values for participants with manifest HD that were relatively low across disease stages were found for the BBS (5), PPT (5), and TUG (2.98). For individuals with pre-manifest HD (n=11), the 6MWT and Four Square Step Test had high reliability and low MDC values. The sample size for the pre-manifest HD group was small. The BBS, PPT, and TUG appear most appropriate for clinical trials aimed at improving physical functioning in people with manifest HD. Further research in people with pre-manifest HD is necessary.
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Diet and the evolution of the earliest human ancestors
Teaford, Mark F.; Ungar, Peter S.
2000-01-01
Over the past decade, discussions of the evolution of the earliest human ancestors have focused on the locomotion of the australopithecines. Recent discoveries in a broad range of disciplines have raised important questions about the influence of ecological factors in early human evolution. Here we trace the cranial and dental traits of the early australopithecines through time, to show that between 4.4 million and 2.3 million years ago, the dietary capabilities of the earliest hominids changed dramatically, leaving them well suited for life in a variety of habitats and able to cope with significant changes in resource availability associated with long-term and short-term climatic fluctuations. PMID:11095758
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Earliest Marker for Autism Found in Young Infants
... Release Wednesday, November 6, 2013 Earliest marker for autism found in young infants NIH-funded study finds ... to 6-month-old infants later diagnosed with autism. Decline in eye fixation reveals signs of autism ...
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Zhu, Jiang; Jiang, Yuan; Shi, Yewen; Zheng, Bo; Xu, Zhiguo; Jia, Wei
2017-10-01
Syphilitic chorioretinitis should be included in differential diagnosis of any form of ocular inflammation. A significantly higher proportion of human immunodeficiency virus (HIV)-positive patients with ocular syphilis as compared to HIV-negative cases have been reported in published studies. However, the clinical signs and symptoms are more insidious in HIV-negative patients who are easily misdiagnosed. We report a series of cases of ocular syphilis and describe the clinical manifestations and treatment outcomes of syphilitic chorioretinitis in HIV-negative patients in China.This was a retrospective case series study. The clinical records of patients with syphilis chorioretinitis were reviewed. Demographic information and findings of fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA), and spectral domain optical coherence tomography (SD-OCT) were analyzed. All patients received the standard treatment. Ophthalmology examination and laboratory evaluation were repeated every 3 months. All changes were recorded. The treatment was considered successful if the patients had no inflammation in both eyes and rapid plasma reagin titer was negative after therapy.The study examined 41 eyes of 28 HIV-negative patients. The main complaints were blurry vision, floaters, and visual field defect. Twenty-seven eyes presented with panuveitis, and all had posterior involvement, including uveitis, vasculitis, chorioretinitis, and optic neuritis. The most common manifestations were uveitis and retinal vasculitis. Disc hyperfluorescence and persistent dark spots were the most common findings on FFA and ICGA. The ill-defined inner segment/outer segment junction was the most frequent manifestation on SD-OCT. Patients were diagnosed with syphilitic uveitis based on positive serological tests. Best-corrected visual acuity (BCVA) was improved in 34 eyes after treatment. Eleven patients were misdiagnosed before serological tests were performed. The delay in treatment
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Ong, Ken Ing Cherng; Kosugi, Hodaka; Thoeun, Sophea; Araki, Hitomi; Thandar, Moe Moe; Iwagami, Moritoshi; Hongvanthong, Bouasy; Brey, Paul T; Kano, Shigeyuki; Jimba, Masamine
2017-01-01
To achieve malaria elimination in the Greater Mekong Subregion (GMS) by 2030, proper case management is necessary. 8-aminoquinolines, such as primaquine, are the only available medicines effective in preventing relapse of the hypnozoite stage of Plasmodium vivax , as well as the onward transmission of Plasmodium falciparum . However, primaquine can cause haemolysis in individuals who have glucose-6-phosphate dehydrogenase deficiency (G6PDd). We conducted a systematic review on the reported clinical manifestations of G6PDd to provide a comprehensive overview of the situation in the GMS. The protocol for this systematic review was registered on PROSPERO: International prospective register of systematic reviews (CRD42016043146). We searched the PubMed/MEDLINE, CINAHL, and Web of Science databases for published articles describing the clinical manifestations of G6PDd in the GMS. We included articles of all study designs from inception until 31 July 2016, reporting the clinical manifestations of G6PDd. We then performed a narrative synthesis of these articles. We included 56 articles in this review, 45 of which were from Thailand. Haemolysis in G6PD-deficient individuals was caused not only by primaquine but also by other medicines and infections. Other clinical manifestations of G6PDd that were found were favism, neonatal jaundice and chronic non-spherocytic haemolytic anaemia. G6PDd also influenced the clinical presentations of genetic disorders and infections, such as thalassemia and typhoid fever. As G6PDd also affects the clinical presentations of other infections, the benefits of G6PD testing and proper record keeping transcend those of malaria case management. Therefore, healthcare workers at the community level should be made familiar with complications resulting from G6PDd as these complications extend beyond the scope of malaria.
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Ong, Ken Ing Cherng; Kosugi, Hodaka; Thoeun, Sophea; Araki, Hitomi; Thandar, Moe Moe; Iwagami, Moritoshi; Hongvanthong, Bouasy; Brey, Paul T; Kano, Shigeyuki; Jimba, Masamine
2017-01-01
Introduction To achieve malaria elimination in the Greater Mekong Subregion (GMS) by 2030, proper case management is necessary. 8-aminoquinolines, such as primaquine, are the only available medicines effective in preventing relapse of the hypnozoite stage of Plasmodium vivax, as well as the onward transmission of Plasmodium falciparum. However, primaquine can cause haemolysis in individuals who have glucose-6-phosphate dehydrogenase deficiency (G6PDd). We conducted a systematic review on the reported clinical manifestations of G6PDd to provide a comprehensive overview of the situation in the GMS. Methods The protocol for this systematic review was registered on PROSPERO: International prospective register of systematic reviews (CRD42016043146). We searched the PubMed/MEDLINE, CINAHL, and Web of Science databases for published articles describing the clinical manifestations of G6PDd in the GMS. We included articles of all study designs from inception until 31 July 2016, reporting the clinical manifestations of G6PDd. We then performed a narrative synthesis of these articles. Results We included 56 articles in this review, 45 of which were from Thailand. Haemolysis in G6PD-deficient individuals was caused not only by primaquine but also by other medicines and infections. Other clinical manifestations of G6PDd that were found were favism, neonatal jaundice and chronic non-spherocytic haemolytic anaemia. G6PDd also influenced the clinical presentations of genetic disorders and infections, such as thalassemia and typhoid fever. Conclusion As G6PDd also affects the clinical presentations of other infections, the benefits of G6PD testing and proper record keeping transcend those of malaria case management. Therefore, healthcare workers at the community level should be made familiar with complications resulting from G6PDd as these complications extend beyond the scope of malaria. PMID:29082022
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Cutaneous Manifestations of Systemic Lupus Erythematosus
Uva, Luís; Miguel, Diana; Pinheiro, Catarina; Freitas, João Pedro; Marques Gomes, Manuel; Filipe, Paulo
2012-01-01
Systemic lupus erythematosus (SLE) is a multiorgan autoimmune disease of unknown etiology with many clinical manifestations. The skin is one of the target organs most variably affected by the disease. The American College of Rheumatology (ACR) established 11 criteria as a classificatory instrument to operationalise the definition of SLE in clinical trials. They were not intended to be used to diagnose individuals and do not do well in that capacity. Cutaneous lesions account for four of these 11 revised criteria of SLE. Skin lesions in patients with lupus may be specific or nonspecific. This paper covers the SLE-specific cutaneous changes: malar rash, discoid rash, photosensitivity, and oral mucosal lesions as well as SLE nonspecific skin manifestations, their pathophysiology, and management. A deeper thorough understanding of the cutaneous manifestations of SLE is essential for diagnosis, prognosis, and efficient management. Thus, dermatologists should cooperate with other specialties to provide optimal care of SLE patient. PMID:22888407
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Coipan, E Claudia; Jahfari, Setareh; Fonville, Manoj; Oei, G Anneke; Spanjaard, Lodewijk; Takumi, Katsuhisa; Hovius, Joppe W R; Sprong, Hein
2016-08-01
In this study we used typing based on the eight multilocus sequence typing scheme housekeeping genes (MLST) and 5S-23S rDNA intergenic spacer (IGS) to explore the population structure of Borrelia burgdorferi sensu lato isolates from patients with Lyme borreliosis (LB) and to test the association between the B. burgdorferi s.l. sequence types (ST) and the clinical manifestations they cause in humans. Isolates of B. burgdorferi from 183 LB cases across Europe, with distinct clinical manifestations, and 257 Ixodes ricinus lysates from The Netherlands, were analyzed for this study alone. For completeness, we incorporated in our analysis also 335 European B. burgdorferi s.l. MLST profiles retrieved from literature. Borrelia afzelii and Borrelia bavariensis were associated with human cases of LB while Borrelia garinii, Borrelia lusitaniae and Borrelia valaisiana were associated with questing I. ricinus ticks. B. afzelii was associated with acrodermatitis chronica atrophicans, while B. garinii and B. bavariensis were associated with neuroborreliosis. The samples in our study belonged to 251 different STs, of which 94 are newly described, adding to the overall picture of the genetic diversity of Borrelia genospecies. The fraction of STs that were isolated from human samples was significantly higher for the genospecies that are known to be maintained in enzootic cycles by mammals (B. afzelii, B. bavariensis, and Borrelia spielmanii) than for genospecies that are maintained by birds (B. garinii and B. valaisiana) or lizards (B. lusitaniae). We found six multilocus sequence types that were significantly associated to clinical manifestations in humans and five IGS haplotypes that were associated with the human LB cases. While IGS could perform just as well as the housekeeping genes in the MLST scheme for predicting the infectivity of B. burgdorferi s.l., the advantage of MLST is that it can also capture the differential invasiveness of the various STs. Copyright © 2016 The
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Oral manifestations of inflammatory bowel disease.
Mortada, I; Leone, A; Gerges Geagea, A; Mortada, R; Matar, C; Rizzo, M; Hajj Hussein, I; Massaad-Massade, L; Jurjus, A
2017-01-01
Inflammatory bowel diseases (IBD), including Crohn’s disease and ulcerative colitis, have important extraintestinal manifestations, notably in the oral cavity. These oral manifestations can constitute important clinical clues in the diagnosis and management of IBD, and include changes at the immune and bacterial levels. Aphthous ulcers, pyostomatitis vegetans, cobblestoning and gingivitis are important oral findings frequently observed in IBD patients. Their presentations vary considerably and might be well diagnosed and distinguished from other oral lesions. Infections, drug side effects, deficiencies in some nutrients and many other diseases involved with oral manifestations should also be taken into account. This article discusses the most recent findings on the oral manifestations of IBD with a focus on bacterial modulations and immune changes. It also includes an overview on options for management of the oral lesions of IBD.
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Fred-Jiménez, Ruth M; Arroyo-Ávila, Mariangelí; Mayor, Ángel M; Ríos, Grissel; Vilá, Luis M
2016-01-01
Objective. To determine the clinical manifestations associated with overweight/obesity in Hispanics from Puerto Rico with fibromyalgia syndrome (FMS). Methods. A cross-sectional study was performed in 144 patients with FMS (per American College of Rheumatology (ACR) classification criteria). Sociodemographic features, FMS-related symptoms, tender points (per ACR criteria), comorbidities, and FMS treatment were examined. BMI was calculated and patients were grouped into two categories: BMI ≤ 24.9 kg/m(2) (nonoverweight/obese) and BMI ≥ 25 kg/m(2) (overweight/obese). Bivariate and multivariate analyses were used to evaluate differences between the study groups. Results. The mean (standard deviation (SD)) age of patients was 50.2 (9.9) years; 95.1% were females and 75.7% were overweight/obese. In the bivariate analysis, overweight/obese patients were more likely to have self-reported memory impairment, anxiety, shortness of breath, and urinary frequency than nonoverweight/obese patients. In addition, the tender point count was higher in the overweight/obese group. In the logistic regression analyses, self-reported memory impairment and urinary frequency differences remained significant after adjusting for confounding variables. Conclusion. In this population of Puerto Ricans with FMS, overweight/obese patients experienced more FMS-related manifestations than nonoverweight/obese individuals. However, prospective studies are needed to confirm these associations and to elucidate if weight reduction interventions could favorably impact the severity of FMS.
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Fred-Jiménez, Ruth M.; Arroyo-Ávila, Mariangelí; Mayor, Ángel M.; Ríos, Grissel; Vilá, Luis M.
2016-01-01
Objective. To determine the clinical manifestations associated with overweight/obesity in Hispanics from Puerto Rico with fibromyalgia syndrome (FMS). Methods. A cross-sectional study was performed in 144 patients with FMS (per American College of Rheumatology (ACR) classification criteria). Sociodemographic features, FMS-related symptoms, tender points (per ACR criteria), comorbidities, and FMS treatment were examined. BMI was calculated and patients were grouped into two categories: BMI ≤ 24.9 kg/m2 (nonoverweight/obese) and BMI ≥ 25 kg/m2 (overweight/obese). Bivariate and multivariate analyses were used to evaluate differences between the study groups. Results. The mean (standard deviation (SD)) age of patients was 50.2 (9.9) years; 95.1% were females and 75.7% were overweight/obese. In the bivariate analysis, overweight/obese patients were more likely to have self-reported memory impairment, anxiety, shortness of breath, and urinary frequency than nonoverweight/obese patients. In addition, the tender point count was higher in the overweight/obese group. In the logistic regression analyses, self-reported memory impairment and urinary frequency differences remained significant after adjusting for confounding variables. Conclusion. In this population of Puerto Ricans with FMS, overweight/obese patients experienced more FMS-related manifestations than nonoverweight/obese individuals. However, prospective studies are needed to confirm these associations and to elucidate if weight reduction interventions could favorably impact the severity of FMS. PMID:26885384
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Clinical manifestations of neuroblastoma with head and neck involvement in children.
Alvi, Sameer; Karadaghy, Omar; Manalang, Michelle; Weatherly, Robert
2017-06-01
The purpose of our study is to review our 15-year experience with pediatric patients who have been diagnosed with neuroblastoma, and to determine their most frequent head and neck manifestations and symptoms. Retrospective chart review of electronic medical record. An academic, tertiary care pediatric hospital. IRB approval from the Office of Research Integrity at Children's Mercy Hospital was obtained. The hospital tumor database was analyzed to identify patients with neuroblastoma, ganglioneuroblastoma, and esthesioneuroblastoma diagnosed between 1997 and 2012. We recorded the various clinical signs and symptoms these patients displayed at their initial presentation, focusing on patients with head and neck involvement. We then determined the relative incidence of these various findings. Our review yielded 118 patients diagnosed with neuroblastoma, ganglioneuroblastoma, or esthesioneuroblastoma over our 15 year study period. 7 of the 118 patients were diagnosed with primary tumors of the head and neck. Another 19 patients had metastatic head and neck involvement. For those with primary disease, presence of a neck mass and signs of Horner's syndrome were the most common findings. For metastatic disease, craniofacial bony metastasis was the most frequent finding in our study. Based on our data, there are a handful of findings that occur frequently in pediatric head and neck neuroblastoma. Any persistent neck mass, unexplained Horner's syndrome, or periorbital ecchymosis should be carefully evaluated. This study should serve as an aid for the otolaryngologist to be aware of the possible manifestations of this malignancy in children. Copyright © 2017 Elsevier B.V. All rights reserved.
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Tularemia: history, epidemiology, pathogen physiology, and clinical manifestations.
Sjöstedt, Anders
2007-06-01
Francisella tularensis has been recognized as a human pathogen for almost 100 years and is the etiological agent of the zoonotic disease tularemia. Soon after its discovery, it became recognized as an important pathogen in several parts of the world, for example, in the United States and Soviet Union. The number of tularemia cases in the two countries peaked in the 1940s and has thereafter steadily declined. Despite this decline, there was still much interest in the pathogen in the 1950s and 1960s since it is highly infectious and transmissible by aerosol, rendering it a potent biothreat agent. In fact, it was one of the agents that was given the highest priority in the offensive programs of the United States and Soviet Union. After termination of the offensive programs in the 1960s, the interest in F. tularensis diminished significantly and little research was carried out for several decades. Outbreaks of tularemia during the last decade in Europe, for example, in Kosovo, Spain, and Scandinavia, led to a renewed public interest in the disease. This, together with a massive increase in the research funding, in particular in the United States since 2001, has resulted in a significant increase in the number of active Francisella researchers. This article summarizes, predominantly with a historical perspective, the epidemiology and clinical manifestations of tularemia and the physiology of F. tularensis.
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Sahin-Acar, Basak; Bakir, Tugce; Kus, Elif Gizem
2017-09-01
This study aimed to examine how daughters, mothers, and grandmothers from the same families resembled each other and how these three generations differed from each other in narrating their earliest childhood memories. Fifty-nine triads from the same families filled out a memory questionnaire and were asked to narrate their earliest childhood memories. Results revealed both intrafamilial similarities and cross-generational difference on characteristics of triads' earliest childhood memories. After earliest childhood memories were coded for memory characteristics, we measured intrafamilial similarities using intra-class correlation coefficients across three generations for each memory characteristic. Results revealed that the earliest childhood memories of members of the same family were significantly similar in terms of level of detail and volume. Although similar patterns among members of the same families were observed in self-related and other-related words, the other/self ratio did not display an intrafamilial similarity. We also measured cross-generational differences and found that daughters' reported age of their earliest childhood memories was dated significantly earlier compared to their grandmothers. Results revealed predominant intrafamilial similarities among the members of the same family and cross-generational differences in terms of the age of the earliest childhood memory.
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Canine MPV17 truncation without clinical manifestations
Hänninen, Reetta L.; Ahonen, Saija; Màrquez, Merce; Myöhänen, Maarit J.; Hytönen, Marjo K.; Lohi, Hannes
2015-01-01
ABSTRACT Mitochondrial DNA depletion syndromes (MDS) are often serious autosomal recessively inherited disorders characterized by tissue-specific mtDNA copy number reduction. Many genes, including MPV17, are associated with the hepatocerebral form of MDS. MPV17 encodes for a mitochondrial inner membrane protein with a poorly characterized function. Several MPV17 mutations have been reported in association with a heterogeneous group of early-onset manifestations, including liver disease and neurological problems. Mpv17-deficient mice present renal and hearing defects. We describe here a MPV17 truncation mutation in dogs. We found a 1-bp insertion in exon 4 of the MPV17 gene, resulting in a frameshift and early truncation of the encoded protein. The mutation halves MPV17 expression in the lymphocytes of the homozygous dogs and the truncated protein is not translated in transfected cells. The insertion mutation is recurrent and exists in many unrelated breeds, although is highly enriched in the Boxer breed. Unexpectedly, despite the truncation of MPV17, we could not find any common phenotypes in the genetically affected dogs. The lack of observable phenotype could be due to a late onset, mild symptoms or potential tissue-specific compensatory mechanisms. This study suggests species-specific differences in the manifestation of the MPV17 defects and establishes a novel large animal model to further study MPV17 function and role in mitochondrial biology. PMID:26353863
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Ocular Manifestations of Acquired Immunodeficiency Syndrome.
Kim, Young Shin; Sun, Hae Jung; Kim, Tae Hyong; Kang, Kui Dong; Lee, Sung Jin
2015-08-01
To investigate the patterns and risk factors of the ocular manifestations of acquired immunodeficiency syndrome (AIDS) and their correlation with CD4+ count in the era of highly active antiretroviral therapy (HAART). This retrospective study examined 127 AIDS patients who presented to Soonchunhyang University Hospital. Data were collected from patient interviews, clinical examinations, and laboratory investigations. Ophthalmologic examinations included the best-corrected visual acuity, intraocular pressure, anterior segment and adnexal examination, and dilated fundus examination. Of the 127 patients with AIDS, 118 were on HAART and 9 were not. The mean CD4+ count was 266.7 ± 209.1 cells/µL. There were ocular manifestations in 61 patients (48.0%). The incidence of anterior segment manifestations was higher than posterior segment manifestations at 28.3% and 19.7%, respectively. The mean CD4+ count was significantly (p < 0.05) lower in the patients with posterior versus anterior segment ocular manifestations. The most common ocular manifestation was retinal microvasculopathy (15.0%), followed by keratoconjunctivitis sicca (14.2%), conjunctival microvasculopathy (9.4%), cytomegalovirus retinitis (3.1%), herpes zoster ophthalmicus (2.4%), and blepharitis (1.6%). Retinal microvasculopathy and cytomegalovirus retinitis were common in patients with CD4+ counts <200 cells/µL, while keratoconjunctivitis sicca and conjunctival microvasculopathy were common in patients with CD4+ counts of 200 to 499 cells/µL. There was a significant (p < 0.05) association between ocular manifestation and CD4+ count or age. The introduction of HAART has changed the landscape of ocular presentations in patients with AIDS. In this study, anterior segment and external ocular manifestations occurred more frequently than posterior segment manifestations. Also, the mean CD4+ count was significantly lower in patients with posterior segment ocular manifestations versus anterior segment ocular
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Earliest functional declines in Huntington disease
Beglinger, Leigh J.; O'Rourke, Justin J.F.; Wang, Chiachi; Langbehn, Douglas R.; Duff, Kevin; Paulsen, Jane S.
2013-01-01
We examined the gold standard for Huntington disease (HD) functional assessment, the Unified Huntington's Disease Rating Scale (UHDRS), in a group of at-risk participants not yet diagnosed but who later phenoconverted to manifest HD. We also sought to determine which skill domains first weaken and the clinical correlates of declines. Using the UHDRS Total Functional Capacity (TFC) and Functional Assessment Scale (FAS), we examined participants from Huntington Study Group clinics who were not diagnosed at their baseline visit but were diagnosed at a later visit (N = 265). Occupational decline was the most common with 65.1% (TFC) and 55.6% (FAS) reporting some loss of ability to engage in their typical work. Inability to manage finances independently (TFC 49.2%, FAS 35.1%) and drive safely (FAS 33.5%) were also found. Functional decline was significantly predicted by motor, cognitive, and depressive symptoms. The UHDRS captured early functional losses in individuals with HD prior to formal diagnosis, however, fruitful areas for expanded assessment of early functional changes are performance at work, ability to manage finances, and driving. These are also important areas for clinical monitoring and treatment planning as up to 65% experienced loss in at least one area prior to diagnosis. PMID:20471695
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40 CFR 262.21 - Manifest tracking numbers, manifest printing, and obtaining manifests.
Code of Federal Regulations, 2014 CFR
2014-07-01
... 40 Protection of Environment 26 2014-07-01 2014-07-01 false Manifest tracking numbers, manifest printing, and obtaining manifests. 262.21 Section 262.21 Protection of Environment ENVIRONMENTAL PROTECTION..., scanned, or faxed, except that the marginal words indicating copy distribution must be printed with a...
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40 CFR 262.21 - Manifest tracking numbers, manifest printing, and obtaining manifests.
Code of Federal Regulations, 2010 CFR
2010-07-01
... 40 Protection of Environment 25 2010-07-01 2010-07-01 false Manifest tracking numbers, manifest printing, and obtaining manifests. 262.21 Section 262.21 Protection of Environment ENVIRONMENTAL PROTECTION..., scanned, and faxed, except that the marginal words indicating copy distribution must be in red ink. (5...
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40 CFR 262.21 - Manifest tracking numbers, manifest printing, and obtaining manifests.
Code of Federal Regulations, 2012 CFR
2012-07-01
... 40 Protection of Environment 27 2012-07-01 2012-07-01 false Manifest tracking numbers, manifest printing, and obtaining manifests. 262.21 Section 262.21 Protection of Environment ENVIRONMENTAL PROTECTION..., scanned, or faxed, except that the marginal words indicating copy distribution must be printed with a...
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40 CFR 262.21 - Manifest tracking numbers, manifest printing, and obtaining manifests.
Code of Federal Regulations, 2013 CFR
2013-07-01
... 40 Protection of Environment 27 2013-07-01 2013-07-01 false Manifest tracking numbers, manifest printing, and obtaining manifests. 262.21 Section 262.21 Protection of Environment ENVIRONMENTAL PROTECTION..., scanned, or faxed, except that the marginal words indicating copy distribution must be printed with a...
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Caio, Giacomo; Giorgio, Roberto De; Venturi, Alessandro; Giancola, Fiorella; Latorre, Rocco; Boschetti, Elisa; Serra, Mauro; Ruggeri, Eugenio; Volta, Umberto
2015-01-01
Aim: To assess anti-neuronal antibodies (NA) prevalence and their correlation with neurological disorders and bowel habits in celiac disease (CD) patients. Background: Neurological manifestations are estimated to occur in about 10% of celiac disease patients and NA to central nervous system (CNS) and enteric nervous system (ENS) are found in a significant proportion of them. Little is known about the clinical and immunological features in CD patients with neurological manifestations. Patients and methods: NA to CNS and ENS were investigated in 106 CD patients and in 60 controls with autoimmune disorders by indirect immunofluorescence on rat / primate cerebellar cortex and intestinal (small and large bowel) sections. Results: IgG NA to CNS (titer 1:50 - 1:400) were positive in 23 celiacs (21%), being more frequently detected in those with neurological disorders that in those without neurological dysfunction (49% vs. 8%, P< 0.0001). Of the 26 celiacs (24%) with IgG NA to ENS, 11 out of 12 with an antibody titer > 1:200 had severe constipation. Only one patient with cerebellar ataxia and intestinal sub-occlusion was positive for NA to CNS and ENS. NA to CNS and ENS were found in 7% and 5% of controls, respectively. Conclusion: In CD the positivity of NA to CNS can be regarded as a marker of neurological manifestations. High titer NA to ENS are associated with severe constipation. The demonstration of NA to CNS and ENS suggests an immune-mediated pathogenesis leading to central neural impairment as well as gut dysfunction (hence constipation), respectively. PMID:25926940
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Miller, S; Snowden, K; Schreuer, D; Hammerberg, B
1990-11-01
Three generations of beagles were monitored for microfilaremia (mf) and clinical disease during repeated infection with Brugia pahangi and were selectively bred for offspring manifesting limb edema and low or amicrofilaremia. A high microfilaremic female mated to a high microfilaremic male produced 7 pups, 6 of which maintained mf greater than 1,000/ml for greater than 2 years after 5 monthly infections of 10 infective larvae each. An uninfected female mated to another high mf male produced 5 pups, 4 of which did not exceed 1,000 mf/ml 7 months after initiation of the repeating infection regimen; 1 of these remained amicrofilaremic after 2 additional challenges. Neither the parents nor the offspring from these matings manifested chronic limb edema. Two matings were conducted with offspring from the microfilaremic female by breeding siblings with the lowest mf and breeding siblings with the highest mf. The high mf siblings produced 4/5 offspring manifesting chronic limb edema (greater than or equal to 7 months duration) and either no mf (in 2 dogs) or less than 100 mf/ml after the repeating infection regimen. The lower mf siblings produced 5 offspring, all with greater than 1,000 mf/ml 6 months after the initiation of the repeating infection regimen; none manifested edema. Comparisons of IgG antibody levels, specific for extracts of adult worms, showed no consistent differences between these 2 litters of dogs that could be associated with limb edema or mf when monitored for 16 months; however, the onset of lymph node enlargement was much earlier in the group of dogs manifesting limb edema than in the other litter.
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Neuropsychiatric manifestations and their outcomes in chronic hypocalcaemia.
Maiti, Abhishek; Chatterjee, Sudip
2013-03-01
Hypocalcaemia is an established cause of neurological and psychiatric disease with numerous clinical manifestations. The aim of the study was to determine the outcome of severe neuropsychiatric manifestations of chronic hypocalcaemia after correction of calcium levels. Clinical and laboratory data of 22 patients seen between 1999 and 2009 were retrospectively analysed. Calcium, magnesium, phosphorus, albumin and parathormone values were measured in all cases. All patients except infants under one year of age had computed tomography (CT) scans of the head. Most patients (n = 19; 86%) presented with generalised tonic clonic convulsions while three had seizures with psychiatric manifestations. Movement disorders were present in 4 patients and one had candida meningitis. Nineteen of the 22 patients had primary hypoparathyroidism of which one had associated mucocutaneous candidiasis. One had pseudohypoparathyroidism and two had vitamin D deficiency. All patients improved with calcitriol and calcium treatment. Twelve of the 14 patients with convulsions could be taken off anticonvulsants. Hemiballismus disappeared in one patient and choreiform movements disappeared in one patient and dystonia in two patients. Psychiatric manifestations improved but did not disappear in the three patients who had them. Adult patients with seizures or neuropsychiatric manifestations should have calcium levels checked. Seizure disorders due to chronic hypocalcaemia had excellent prognosis on correction of serum calcium levels. Movement disorders improved markedly. Psychiatric manifestations did not improve substantially on correction of serum calcium levels.
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The extrahepatic manifestations of hepatitis B virus.
Baig, Saeeda; Alamgir, Mohiuddin
2008-07-01
Hepatitis B Virus (HBV) leads to a number of hepatic complications, from acute to chronic hepatitis, cirrhosis and hepatocellular carcinoma, is a well-established fact. Upcoming clinical research, over the years, associates numerous extrahepatic manifestations during the acute and chronic episodes of hepatitis B with significant morbidity and mortality. A causal relationship between HBV and serious autoimmune disorders has also been observed among certain susceptible vaccine recipients in a defined temporal period following immunization. The cause of these extrahepatic manifestations is generally believed to be immune mediated. The most commonly described include skin rash, arthritis, arthralgia, glomerulonephritis, polyarteritis nodosa, and papular acrodermatitis etc. The serum-sickness like "arthritis-dermatitis" prodrome has also been observed in approximately one-third of patients acquiring HBV infections. Skin manifestations of HBV infection typically present as palpable purpura reported to be caused by chronic HBV, although this association remains controversial. To consider the relationship between HBV and other clinically significant disorders as well as serious autoimmune disorders among certain vaccine recipients is the topic of this review. Variable factors that influence extrahepatic manifestation are discussed, including possible synergy between hepatitis B virus and the immune system.
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ERIC Educational Resources Information Center
Stock, Claudette, Comp.
Remediation of learning disabilities is discussed and a table of teaching materials related to psychological and motor functions is provided. Guides on 11 behavioral manifestations and three specific learning disabilities furnish definitions and description as well as techniques for training and management. Behavioral manifestations considered…
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Earliest Recollections and Birth Order: Two Adlerian Exercises.
ERIC Educational Resources Information Center
Parrott, Les
1992-01-01
Presents two exercises designed to demonstrate the influence of two Adlerian principles on personality. Includes exercises dealing with birth order and earliest recollection. Concludes that the exercises actively demonstrate major concepts for counseling courses in Adlerian psychotherapy. Reports that students rated both exercises highly, with…
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Shanmuganathan, Rohan; Shanmuganathan, Indra Devi
2015-01-01
Introduction: The main aim of this study was to describe the clinical manifestation of tuberculosis infection cases in Malaysia and to determine the individual risk factors for their occurrence. Methodology: The study adopted a quantitative research approach with use of descriptive statistical approach. The study setting was a community clinic which treats walk in patients who are mainly living and working in the surrounding areas. The study was conducted for a period of one year. All tuberculosis patients who sought treatment in the clinic during the time were included in this study. The total number of cases was 40. Data was collected from the medical records of the tuberculosis patients. The risk factors selected for investigation were demographic characteristics of age and sex, personal habits such as smoking, drug use and alcohol and presence of diseases such as human immunodeficiency virus positive (HIV+), diabetes mellitus, cancer, cyanotic heart disease, renal failure and steroid use. Results: Patients in the age group ranging from 41 to 50 years had the highest incidence of the infection. Smoking appears to be the most important risk factor for contracting followed by drug abuse, HIV+ infection and diabetes mellitus. Conclusions: People with diseases such as diabetes mellitus and HIV that are high risk factors for TB should be screened for TB so that early detection and intervention is possible. Educational programs should be carried out to create awareness among the at risk groups. PMID:25946947
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Shanmuganathan, Rohan; Subramaniam, Indra Devi
2015-01-01
The main aim of this study was to describe the clinical manifestation of tuberculosis infection cases in Malaysia and to determine the individual risk factors for their occurrence. The study adopted a quantitative research approach with use of descriptive statistical approach. The study setting was a community clinic which treats walk in patients who are mainly living and working in the surrounding areas. The study was conducted for a period of one year. All tuberculosis patients who sought treatment in the clinic during the time were included in this study. The total number of cases was 40. Data was collected from the medical records of the tuberculosis patients. The risk factors selected for investigation were demographic characteristics of age and sex, personal habits such as smoking, drug use and alcohol and presence of diseases such as human immunodeficiency virus positive (HIV+), diabetes mellitus, cancer, cyanotic heart disease, renal failure and steroid use. Patients in the age group ranging from 41 to 50 years had the highest incidence of the infection. Smoking appears to be the most important risk factor for contracting followed by drug abuse, HIV+ infection and diabetes mellitus. People with diseases such as diabetes mellitus and HIV that are high risk factors for TB should be screened for TB so that early detection and intervention is possible. Educational programs should be carried out to create awareness among the at risk groups.
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Butkiewicz, Filip; Kaszuba, Michał; Brzeziński, Michał; Iżbicki, Jan; Kubiś, Marek; Lopiński, Hubert; Borowiak, Michał; Szelepajło, Michał; Fischer, Katarzyna; Fliciński, Jacek
2014-01-01
Antiphosphatidylethanolamine antibodies (aPE) and antiphosphatidylserine antibodies (aPS) belong to a group of antiphospholipid antibodies (aPL) that occur in patients with antiphospholipid syndrome (APS) and systemic lupus erythematosus (SLE). The aim of this study was to examine associations between the elevated serum concentration of aPE/aPS, the clinical manifestations of SLE, and the presence of other autoantibodies. The study group included 71 patients with SLE. The control group comprised 36 healthy volunteers. In both groups, serum aPS and aPE concentrations were measured with enzyme‑linked immunosorbent assays. Clinical data, including clinical manifestations and the laboratory markers of SLE, were obtained from medical records. The study revealed a higher prevalence of aPE in patients with SLE than in controls (54.93% vs. 5.56%). aPS were observed in the study group less frequently compared with aPE (12.68% vs. 54.93%) and were absent in controls. Anticardiolipin antibodies and APS were found to be associated with the presence of aPS. Thrombocytopenia, Raynaud phenomenon, and myocardial infarction were observed more frequently among aPS‑positive patients. The presence of aPE was also associated with the occurrence of mucosal ulcers in the mouth cavity. A positive correlation between aPS and erythrocyte sedimentation rate (ESR) was also observed. The serum concentration of aPE inversely correlated with red blood cell count and positively with ESR. The presence of aPS in patients with SLE is associated with thrombocytopenia, Raynaud phenomenon, and cardiac complications.
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Different manifestation of depressive disorder in the elderly.
Shahpesandy, Homayun
2005-12-01
To compare the clinical manifestation of depressive disorder in elderly, and younger adults. To compare the clinical manifestation of depressive disorder, we evaluate 46 elderly (33 female, and 13 male, mean age 71.1) and 60 younger adults (40 female, and 20 male, mean age 44.5 years). All patients suffering from depressive disorders according to ICD-10. For evaluation and comparison of depressive symptomatology we used the HAM-D-17. The results analysed by the SPSS. The clinical manifestation of depression is different in the elderly. Elderly depressed patients compared with their younger counterparts, scored significantly less in Depressed mood, but significantly higher in Work and activities, Retardation, Somatic symptoms-general, Hypochondriasis, Insomnia-middle, Insomnia-late, Anxiety-somatic, and Somatic symptoms-gastrointestinal. On the other hand, younger patients scored significantly higher in Feelings of guilt, and Genital symptoms. Clinical presentation of depressive disorder is different in the elderly, depressed mood is often absent or masked. Anxiety, somatization, and hypochondriasis are more often present in the elderly depressed patients than in younger patients. The elderly people are also more likely than their younger counterparts to complain of insomnia.
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Dillon, Carol; Machnicki, Gerardo; Serrano, Cecilia M; Rojas, Galeno; Vazquez, Gustavo; Allegri, Ricardo F
2011-11-01
As the older population increases so does the number of older psychiatric patients. Elderly psychiatric patients manifest certain specific and unique characteristics. Different subtypes of depressive syndromes exist in late-life depression, and many of these are associated with cognitive impairment. A total of 109 depressive patients and 30 normal subjects matched by age and educational level were evaluated using a neuropsychiatric interview and an extensive neuropsychological battery. Depressive patients were classified into four different groups by SCAN 2.1 (schedules for clinical assessment in Neuropsychiatry): major depression disorder (n: 34), dysthymia disorder (n: 29), subsyndromal depression (n: 28), and depression due to mild dementia of Alzheimer's type (n: 18). We found significant associations (p<.05) between depressive status and demographic or clinical factors that include marital status (OR: 3.4, CI: 1.2-9.6), level of daily activity (OR: 5.3, CI: 2-14), heart disease (OR: 12.5, CI: 1.6-96.3), and high blood cholesterol levels (p:.032). Neuropsychological differences were observed among the four depressive groups and also between depressive patients and controls. Significant differences were observed in daily life activities and caregivers' burden between depressive patients and normal subjects. Geriatric depression is associated with heart disease, high cholesterol blood levels, marital status, and daily inactivity. Different subtypes of geriatric depression have particular clinical features, such as cognitive profiles, daily life activities, and caregivers' burden, that can help to differentiate among them. The cohort referred to a memory clinic with memory complaints is a biased sample, and the results cannot be generalized to other non-memory symptomatic cohorts. Copyright © 2011 Elsevier B.V. All rights reserved.
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Breast manifestations of systemic diseases
Dilaveri, Christina A; Mac Bride, Maire Brid; Sandhu, Nicole P; Neal, Lonzetta; Ghosh, Karthik; Wahner-Roedler, Dietlind L
2012-01-01
Although much emphasis has been placed on the primary presentations of breast cancer, little focus has been placed on how systemic illnesses may affect the breast. In this article, we discuss systemic illnesses that can manifest in the breast. We summarize the clinical features, imaging, histopathology, and treatment recommendations for endocrine, vascular, systemic inflammatory, infectious, and hematologic diseases, as well as for the extramammary malignancies that can present in the breast. Despite the rarity of these manifestations of systemic disease, knowledge of these conditions is critical to the appropriate evaluation and treatment of patients presenting with breast symptoms. PMID:22371658
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Parra, D; Mekki, Y; Durieu, I; Broussolle, C; Sève, P
2014-05-01
Parvovirus B19 causes erythema infectiosum in children, transient aplastic anemia in patients with hemoglobinopathies, pur red cell aplasia in immunocompromised persons and hydrops fetalis in pregnancy. The spectrum of clinical and biological manifestations in immunocompetent adult continues to grow up. We report on a case series of 26 patients with primary parvovirus B19 infection in immunocompetent adults. This is a retrospective study over the period 2000 to 2010 in two departments of internal medecine. The diagnostic was clinical, serological or molecular. There was a female predominance (sex-ratio 3.33/1). Median patient age at diagnostic was 38.8 years (range: 18-68). The predominant symptoms were fever (65%), peripheral and symmetrical polyarthralgia (62%) and skin rash (58%). Two patients had neurological manifestations (sixth cranial nerve palsy, distal paresthesia) and one patient had myocarditis. Abnormal laboratory values included increased acute phase reactants (73%), thrombocytopenia (43%), lymphopenia (38%) and elevated liver enzymes (37%). Antinuclear (19%), anti-DNA (28%) and anti-phospholipids antibodies (14%), and hypocomplementemia (32%) were observed. False reaction with anti-CMV and anti-EBV IgM positivity was documented in 27% of cases. Two patients had persistent parvovirus B19 infection. The diversity of the clinical manifestations of parvovirus B19 infection may be misleading for the clinician. However, the diagnosis should be suspected in immunocompetent adults to limit the risk of transmission to the patients who could develop a severe infection such as pregnant women or immunocompromised patients. Copyright © 2013 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.
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Okajima, Kaoru; Ohta, Yoshio
2012-10-01
Recent developments in diagnostic radiology, which have enabled accurate differential diagnoses of brain tumors, have been well described in the last three decades. MR and PET imaging can also provide information to predict histological grades and prognoses that might influence treatment strategies. However, high-grade astrocytomas consist of many different subtypes that are associated with different imaging and histological characteristics. Hemorrhage and necrosis results in a variety of imaging features, and infiltrative tumor growth entrapping normal neurons may cause different clinical manifestations. We reviewed patients with high-grade astrocytomas that showed various imaging characteristics, with special emphasis on initial symptoms and histological features. Clinicopathological characteristics of astrocytomas were also compared with other malignant tumors. Neurological deficits were not notable in patients with grade 3-4 astrocytomas when they showed infiltrative tumor growth, while brain metastases with compact cellular proliferation caused more neurological symptoms. Infiltrative tumors did not show any enhancing masses on MR imaging, but these tumors may show intratumor heterogeneity. Seizures were reported to be more frequent in low-grade glioma and in secondary glioblastoma. Tumor heterogeneity was also reported in molecular genetic profile, and investigators identified some subsets of astrocytomas. They investigated IHD1/2 mutation, EGFR amplification, TP53 mutation, Ki-67 index, etc. In summary, high-grade astrocytomas are not homogenous groups of tumors, and this is associated with the heterogeneity of clinical manifestation, image characteristics, and histopathological findings. Molecular studies may explain the tumor heterogeneity in the near future.
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Kuryata, Olexandr; Lysunets, Tatiana
2018-01-01
Objectives Systemic sclerosis (SSc) is a rare disease of connective tissue, manifestations of which may vary in different geographical areas. We aimed to describe the clinical portrait of patients with SSc in Dnipropetrovsk region and to investigate how initial clinical and laboratory characteristics are connected with the presence of hypertension in SSc onset. Material and methods Patients were enrolled to this study from the registry of SSc patients, established in the Rheumatology Department, Mechnikov Dnipropetrovsk Regional Clinic, Dnipro. This registry contains histories of new cases of SSc from 1993 to 2014. Patients are followed-up and receive treatment according to EULAR and local standards. Diagnosis of SSc was based on ACR and EULAR Criteria for systemic Sclerosis. Two patients developed scleroderma renal crisis during follow-up. This report is a cross-sectional study. We analysed only data of the first visit to a rheumatologist. Results In total 148 patients (median age [IQR] – 47 [40; 52] years) fulfilled the inclusion criteria. Male/female ratio was 1 : 20.1. The most frequent clinical signs were Raynaud’s phenomenon and arthritis. The prevalence of skin lesion in dcSSc patients was twice as high as in lcSSc patients. Pulmonary fibrosis occurred significantly more commonly in dcSSc patients. Hypertension occurred in 26–33% in both groups. Patients with hypertension at the SSc onset were seven years older than normotensive patients. More hypertensive patients were classified as lcSSc. Mean GFR was dramatically lower in hypertensive patients. Conclusions The most common clinical form in our study was diffuse cutaneous subset of SSc. Hypertension in patients with SSc may be associated with local cutaneous subset of SSc and renal impairment. The strongest predictors of clinical form of SSc are signs of fibrosis (skin lesion and pulmonary fibrosis) and inflammation (arthritis and elevated CRP). PMID:29686439
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Semenov, Viktor; Kuryata, Olexandr; Lysunets, Tatiana
2018-01-01
Systemic sclerosis (SSc) is a rare disease of connective tissue, manifestations of which may vary in different geographical areas. We aimed to describe the clinical portrait of patients with SSc in Dnipropetrovsk region and to investigate how initial clinical and laboratory characteristics are connected with the presence of hypertension in SSc onset. Patients were enrolled to this study from the registry of SSc patients, established in the Rheumatology Department, Mechnikov Dnipropetrovsk Regional Clinic, Dnipro. This registry contains histories of new cases of SSc from 1993 to 2014. Patients are followed-up and receive treatment according to EULAR and local standards. Diagnosis of SSc was based on ACR and EULAR Criteria for systemic Sclerosis. Two patients developed scleroderma renal crisis during follow-up. This report is a cross-sectional study. We analysed only data of the first visit to a rheumatologist. In total 148 patients (median age [IQR] - 47 [40; 52] years) fulfilled the inclusion criteria. Male/female ratio was 1 : 20.1. The most frequent clinical signs were Raynaud's phenomenon and arthritis. The prevalence of skin lesion in dcSSc patients was twice as high as in lcSSc patients. Pulmonary fibrosis occurred significantly more commonly in dcSSc patients. Hypertension occurred in 26-33% in both groups. Patients with hypertension at the SSc onset were seven years older than normotensive patients. More hypertensive patients were classified as lcSSc. Mean GFR was dramatically lower in hypertensive patients. The most common clinical form in our study was diffuse cutaneous subset of SSc. Hypertension in patients with SSc may be associated with local cutaneous subset of SSc and renal impairment. The strongest predictors of clinical form of SSc are signs of fibrosis (skin lesion and pulmonary fibrosis) and inflammation (arthritis and elevated CRP).
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Clinical manifestations and management of left ventricular assist device-associated infections.
Nienaber, Juhsien Jodi C; Kusne, Shimon; Riaz, Talha; Walker, Randall C; Baddour, Larry M; Wright, Alan J; Park, Soon J; Vikram, Holenarasipur R; Keating, Michael R; Arabia, Francisco A; Lahr, Brian D; Sohail, M Rizwan
2013-11-01
Infection is a serious complication of left ventricular assist device (LVAD) therapy. Published data regarding LVAD-associated infections (LVADIs) are limited by single-center experiences and use of nonstandardized definitions. We retrospectively reviewed 247 patients who underwent continuous-flow LVAD implantation from January 2005 to December 2011 at Mayo Clinic campuses in Minnesota, Arizona, and Florida. LVADIs were defined using the International Society for Heart and Lung Transplantation criteria. We identified 101 episodes of LVADI in 78 patients (32%) from this cohort. Mean age (± standard deviation [SD]) was 57±15 years. The majority (94%) underwent Heartmate II implantation, with 62% LVADs placed as destination therapy. The most common type of LVADIs were driveline infections (47%), followed by bloodstream infections (24% VAD related, and 22% non-VAD related). The most common causative pathogens included gram-positive cocci (45%), predominantly staphylococci, and nosocomial gram-negative bacilli (27%). Almost half (42%) of the patients were managed by chronic suppressive antimicrobial therapy. While 14% of the patients had intraoperative debridement, only 3 underwent complete LVAD removal. The average duration (±SD) of LVAD support was 1.5±1.0 years. At year 2 of follow-up, the cumulative incidence of all-cause mortality was estimated to be 43%. Clinical manifestations of LVADI vary on the basis of the type of infection and the causative pathogen. Mortality remained high despite combined medical and surgical intervention and chronic suppressive antimicrobial therapy. Based on clinical experiences, a management algorithm for LVADI is proposed to assist in the decision-making process.
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Ocular Manifestations of Acquired Immunodeficiency Syndrome
Kim, Young Shin; Sun, Hae Jung; Kim, Tae Hyong; Kang, Kui Dong
2015-01-01
Purpose To investigate the patterns and risk factors of the ocular manifestations of acquired immunodeficiency syndrome (AIDS) and their correlation with CD4+ count in the era of highly active antiretroviral therapy (HAART). Methods This retrospective study examined 127 AIDS patients who presented to Soonchunhyang University Hospital. Data were collected from patient interviews, clinical examinations, and laboratory investigations. Ophthalmologic examinations included the best-corrected visual acuity, intraocular pressure, anterior segment and adnexal examination, and dilated fundus examination. Results Of the 127 patients with AIDS, 118 were on HAART and 9 were not. The mean CD4+ count was 266.7 ± 209.1 cells/µL. There were ocular manifestations in 61 patients (48.0%). The incidence of anterior segment manifestations was higher than posterior segment manifestations at 28.3% and 19.7%, respectively. The mean CD4+ count was significantly (p < 0.05) lower in the patients with posterior versus anterior segment ocular manifestations. The most common ocular manifestation was retinal microvasculopathy (15.0%), followed by keratoconjunctivitis sicca (14.2%), conjunctival microvasculopathy (9.4%), cytomegalovirus retinitis (3.1%), herpes zoster ophthalmicus (2.4%), and blepharitis (1.6%). Retinal microvasculopathy and cytomegalovirus retinitis were common in patients with CD4+ counts <200 cells/µL, while keratoconjunctivitis sicca and conjunctival microvasculopathy were common in patients with CD4+ counts of 200 to 499 cells/µL. There was a significant (p < 0.05) association between ocular manifestation and CD4+ count or age. Conclusions The introduction of HAART has changed the landscape of ocular presentations in patients with AIDS. In this study, anterior segment and external ocular manifestations occurred more frequently than posterior segment manifestations. Also, the mean CD4+ count was significantly lower in patients with posterior segment ocular manifestations
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Asadi-Pooya, Ali A; Sperling, Michael R
2015-08-01
To evaluate the demographic and clinical manifestations and postsurgical outcome of childhood-onset mesial temporal sclerosis and temporal lobe epilepsy (MTS-TLE) and establishing the potential differences as compared to the patients with adult-onset MTS-TLE. In this retrospective study all patients with a clinical diagnosis of medically refractory TLE due to mesial temporal sclerosis, who underwent epilepsy surgery at Jefferson comprehensive epilepsy center, were recruited. Patients were prospectively registered in a database from 1986 through 2014. Postsurgical outcome was classified into two groups; seizure-free or relapsed. Clinical manifestations and outcome were compared between patients with childhood-onset MTS-TLE (i.e., age at onset of the first afebrile habitual seizure below 10 years) and those with adult-onset MTS-TLE (i.e., age at onset of the first afebrile habitual seizure 20 years or above). One hundred and twelve patients had childhood-onset MTS-TLE and 76 had adult-onset MTS-TLE. Demographic, clinical, EEG and MRI characteristics of these two groups were similar. Postoperative outcome was not statistically different between these two groups of patients (P=0.9). Temporal lobe epilepsy due to mesial temporal sclerosis is a common cause of epilepsy that can start from early childhood to late adulthood. The etiology of MTS-TLE may be different in various age groups, but it seems that when mesial temporal sclerosis is the pathological substrate of TLE, clinical manifestations and response to surgical treatment of patients are very similar in patients with childhood-onset MTS-TLE compared to those with adult-onset disease. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
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Abreu, Mirhelen M; Danowski, Adriana; Wahl, Denis G; Amigo, Mary-Carmen; Tektonidou, Maria; Pacheco, Marcelo S; Fleming, Norma; Domingues, Vinicius; Sciascia, Savino; Lyra, Julia O; Petri, Michelle; Khamashta, Munther; Levy, Roger A
2015-05-01
The purpose of this task force was to critically analyze nine non-criteria manifestations of APS to support their inclusion as APS classification criteria. The Task Force Members selected the non-criteria clinical manifestations according to their clinical relevance, that is, the patient-important outcome from clinician perspective. They included superficial vein thrombosis, thrombocytopenia, renal microangiopathy, heart valve disease, livedo reticularis, migraine, chorea, seizures and myelitis, which were reviewed by this International Task Force collaboration, in addition to the seronegative APS (SN-APS). GRADE system was used to evaluate the quality of evidence of medical literature of each selected item. This critical appraisal exercise aimed to support the debate regarding the clinical picture of APS. We found that the overall GRADE analysis was very low for migraine and seizures, low for superficial venous thrombosis, thrombocytopenia, chorea, longitudinal myelitis and the so-called seronegative APS and moderate for APS nephropathy, heart valve lesions and livedo reticularis. The next step can be a critical redefinition of an APS gold standard, for instance derived from the APS ACTION registry that will include not only current APS patients but also those with antiphospholipid antibodies not meeting current classification criteria. Copyright © 2015 Elsevier B.V. All rights reserved.
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[Neuropsychiatric manifestations ushering pernicious anemia].
Mrabet, S; Ellouze, F; Ellini, S; Mrad, M F
2015-12-01
Biermer disease or pernicious anemia is an autoimmune atrophic gastritis characterized by the lack of secretion of gastric intrinsic factor. This leads to an insufficient absorption of vitamin B12 in the ileum. Clinical manifestations are mainly hematologic. Neuropsychiatric manifestations are known but are less frequent especially early in the disease. Inaugural neuropsychiatric arrays are rare and various thus making diagnosis difficult. In this article, we report through two clinical cases different neuropsychiatric manifestations revealing pernicious anemia. Mrs. C.O., aged 56, presented after surgery for gallstones, an acute psychiatric array associated with gait disorders. She had no history of neurological or psychiatric problems. The psychiatric interview revealed delirious syndrome, depressive symptoms and anxiety. Neurological examination noted a flaccid paraplegia with peripheral neuropathic syndrome and myoclonus in the upper limbs. At the full blood count, a macrocytosis (VGM: 112.2fl) without anemia was found. The level of vitamin B12 in the blood was low. Cerebro-spinal MRI was suggestive of a neuro-Biermer and showed hyper signal in the cervical cord on T2-weighted sagittal section. In axial section, hyper signal appears at the posterior columns in the form of V. There were no brain abnormalities. A sensorimotor axonal polyneuropathy was diagnosed. The patient received vitamin B12 intramuscularly for ten days associated with neuroleptic treatment. Mrs. R.M., aged 40, was brought to the psychiatry consultation for acute behavioral disorders progressively worsening over a month. An anxiety syndrome, depressive syndrome and delirious syndrome were identified. Neurological examination showed a posterior cordonal syndrome with quadripyramidal syndrome. Full blood count showed a macrocytic anemia. Serum B12 level was collapsed. Cerebro-spinal MRI was normal. She received vitamin B12 with clinical and biological improvement. Features of pernicious anemia
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Anosike, J C; Celestine; Onwuliri, O E; Onwuliri, V A
2001-07-01
Between January and October 1994, a study of the prevalence, intensity and clinical manifestations of onchocerciasis in nine communities of Toro local government area of Bauchi State, Nigeria was undertaken using the skin-snip method. Of the 1117 inhabitants examined, 188 (16.8%) were positive for microfilariae of Onchocerca volvulus. The prevalence of onchocerciasis was significantly higher (P < 0.05) among males than females, in subjects 21 years of age and above than in those in the first two decades of life, in nomads, farmers, hunters and fishermen than smiths and traders. Intensity of infection was light, not exceeding a geometric mean of 5.3 microfilaria per 2 mm skin bite. Preponderance of positive cases below 20 years presented no chronic signs. Conversely, persons above 20 years had higher microfilaria counts which coincides with the period when most clinical signs manifest. Microfilarial-rate and -density in relation to age were closely associated (r = 0.75, P < 0.001). The need for a sustained mass distribution of Mectizan in these communities is highlighted.
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Finucci Curi, Pablo; Pierrestegui, Matilde; Ortiz, Alberto; Ceccato, Federico; Paira, Sergio
2015-11-06
Pulmonary hemorrhage (PH) in systemic lupus erythematosus (SLE) is a rare but potentially fatal complication that occurs most frequently in the context of active lupus with involvement of other organs. The objective of this study is to report the clinical features and prognosis of patients with SLE who had PH. Patients with SLE (1982 American College of Rheumatology criteria) and PH under monitoring between June 1999 and November 2011 were studied. Demographic, clinical, laboratory, treatment and prognosis data related to PH were analyzed. Eleven patients with SLE developed 14 episodes of PH. PH was the first manifestation of SLE in 2 patients. The most frequent symptoms and clinical signs were dyspnea, fever and cough, which occurred in 12 (85%), 11 (77%) and 7 (50%) patients, respectively. Hemoptysis was also observed in 5 (35%) episodes, tachycardia in 2 (14%), pallor in one (7%) and chest pain in one (7%). All patients had other concomitant organ involvement, and were treated with glucocorticoids. In addition, intravenous cyclophosphamide was indicated in 12 episodes and plasma exchange in 4. Overall mortality was 64%. Factors associated with mortality were infection, mechanical ventilation and dialysis. PH continues to be a rare and severe complication of SLE. Its suspected presence forces us to quickly study these patients, since early diagnosis and aggressive treatment have been shown to improve survival in them. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.
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Unusual Dermatological Manifestations of Gout: Review of Literature and a Case Report
Ortega, Viviana Gómez; Gaona, Jennifer; Motta, Adriana; Medina Barragán, Oskar Javier
2015-01-01
Background: Gouty panniculitis is a rare clinical manifestation of gout, characterized by deposits of monosodium urate crystals in the hypodermis. Our aim was to describe atypical and rare clinical presentations of gouty tophi. Methods: We searched relevant English and Spanish literature of unusual gout manifestations using the following keywords: giant, gout, panniculitis, gouty panniculitis, gouty tophi, rare manifestations of gout, gouty, tophi, tophus, monosodium urate, uric acid, and unusual. Well-described case reports, case series, and review articles were evaluated and included in the literature review. Results: International literature has reported fewer than 10 cases of gouty panniculitis worldwide. In this case report, the patient presents a rare manifestation of gouty panniculitis, with typical joint injuries, gouty tophi in both lower and upper extremities, chronic gouty tophi in the nose, for which only 3 cases have been reported in literature, and great hypertrophy of adipose tissue in the lower back. Conclusions: Tophi can be found in atypical locations, which increase morbidities and deformities caused by the disease. We report an interesting case of gouty panniculitis associated with great hypertrophy of the adipose tissue, a rare manifestation of gout, and unusual locations of tophi. These clinical manifestations in our patient have not been recorded before, which leads us to think that we are in the presence of a new dermatological manifestation of gout. PMID:26301134
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Bone marrow monosomy 7: hematologic and clinical manifestations in childhood and adolescence.
Hutter, J J; Hecht, F; Kaiser-McCaw, B; Hays, T; Baranko, P; Cohen, J; Durie, B
1984-01-01
The hematologic manifestations and clinical course are described for six children and adolescents with bone marrow monosomy 7. One child with secondary acute myelogenous leukemia had monosomy 7 plus a marker chromosome; the remaining patients had marrow monosomy 7 as the only karyotypic abnormality. The hematologic abnormalities were diverse, but the majority of patients had a smoldering preleukemic or myeloproliferative phase. Leukemic blasts were either undifferentiated or demonstrated evidence of myeloid differentiation. All patients responded poorly to antileukemic therapy. Bone marrow monosomy 7 was observed in one patient with severe marrow hypoplasia. Antileukemic therapy in another patient with greater than 30 per cent marrow blasts was associated with the development of a bone marrow myeloproliferative disorder with persistence of the monosomy 7 karyotype. We speculate that monosomy 7 may be a specific marker for a pluripotent hematopoietic stem cell abnormality that is associated with either blastic leukemia or a myeloproliferative disorder.
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The characteristics and chronology of the earliest Acheulean at Konso, Ethiopia
Beyene, Yonas; Katoh, Shigehiro; WoldeGabriel, Giday; Hart, William K.; Uto, Kozo; Sudo, Masafumi; Kondo, Megumi; Hyodo, Masayuki; Renne, Paul R.; Suwa, Gen; Asfaw, Berhane
2013-01-01
The Acheulean technological tradition, characterized by a large (>10 cm) flake-based component, represents a significant technological advance over the Oldowan. Although stone tool assemblages attributed to the Acheulean have been reported from as early as circa 1.6–1.75 Ma, the characteristics of these earliest occurrences and comparisons with later assemblages have not been reported in detail. Here, we provide a newly established chronometric calibration for the Acheulean assemblages of the Konso Formation, southern Ethiopia, which span the time period ∼1.75 to <1.0 Ma. The earliest Konso Acheulean is chronologically indistinguishable from the assemblage recently published as the world’s earliest with an age of ∼1.75 Ma at Kokiselei, west of Lake Turkana, Kenya. This Konso assemblage is characterized by a combination of large picks and crude bifaces/unifaces made predominantly on large flake blanks. An increase in the number of flake scars was observed within the Konso Formation handaxe assemblages through time, but this was less so with picks. The Konso evidence suggests that both picks and handaxes were essential components of the Acheulean from its initial stages and that the two probably differed in function. The temporal refinement seen, especially in the handaxe forms at Konso, implies enhanced function through time, perhaps in processing carcasses with long and stable cutting edges. The documentation of the earliest Acheulean at ∼1.75 Ma in both northern Kenya and southern Ethiopia suggests that behavioral novelties were being established in a regional scale at that time, paralleling the emergence of Homo erectus-like hominid morphology. PMID:23359714
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Case report of Graves’ disease manifesting with odynophagia and heartburn
Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina
2015-01-01
Graves’ disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves’ disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment. PMID:26730171
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Case report of Graves' disease manifesting with odynophagia and heartburn.
Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina
2015-12-28
Graves' disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves' disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment.
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Safra, Noa; Johnson, Eric G.; Lit, Lisa; Foreman, Oded; Wolf, Zena T.; Aguilar, Miriam; Karmi, Nili; Finno, Carrie J.; Bannasch, Danika L.
2014-01-01
Objective To evaluate clinical manifestations, response to treatment, and outcome for Weimaraners with hypertrophic osteodystrophy (HOD). Design Retrospective case series. Animals 53 dogs. Procedures Medical records were reviewed for signalment, vaccination history, clinical signs, laboratory test results, response to treatment, and relapses. Radiographs were reviewed. Results Clinical signs included pyrexia, lethargy, and ostealgia; signs involving the gastrointestinal, ocular, or cutaneous systems were detected. Of the 53 dogs, 28 (52.8%) had HOD-affected littermates. Dogs with HOD-affected littermates were more likely to relapse, compared with the likelihood of relapse for dogs with no HOD-affected littermates. All 53 dogs had been vaccinated 1 to 30 days before HOD onset; no difference was found between the number of dogs with a history of vaccination with a recombinant vaccine (n = 21) versus a nonrecombinant vaccine (32). Fifty (94.3%) dogs had radiographic lesions compatible with HOD at disease onset, and the other 3 (5.7%) had HOD lesions 48 to 72 hours after the onset of clinical signs. Twelve of 22 (54.5%) dogs treated with NSAIDs did not achieve remission by 7 days after initiation of treatment. All dogs treated initially with corticosteroids achieved remission within 8 to 48 hours. Of the 33 dogs that reached adulthood, 28 (84.8%) were healthy and 5 (15.2%) had episodes of pyrexia and malaise. Conclusions and Clinical Relevance Treatment with corticosteroids was superior to treatment with NSAIDs in Weimaraners with HOD. It may be necessary to evaluate repeated radiographs to establish a diagnosis of HOD. Most HOD-affected Weimaraners had resolution of the condition with physeal closure. PMID:23600784
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Imaging of musculoskeletal manifestations in sickle cell disease patients.
Kosaraju, Vijaya; Harwani, Alok; Partovi, Sasan; Bhojwani, Nicholas; Garg, Vasant; Ayyappan, Sabarish; Kosmas, Christos; Robbin, Mark
2017-05-01
Sickle cell disease (SCD) is a hereditary red cell disorder with clinical manifestations secondary to sickling or crescent-shaped distortion of the red blood cells. Major clinical manifestations of SCD include haemolytic anaemia and vaso-occlusive phenomena resulting in ischaemic tissue injury and organ damage. Chronic sequelae of the anaemia and vaso-occlusive processes involving the musculoskeletal system include complications related to extramedullary haematopoiesis, osteonecrosis, myonecrosis and osteomyelitis. Sickle cell bone disease is one of the commonest clinical presentations. Awareness and knowledge of the imaging features related to these complications are essential for early diagnosis and prompt management. In this article, the pathophysiology and key imaging findings related to these complications are reviewed.
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Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran.
Dorgalaleh, Akbar; Alavi, Sayed Ezatolla Rafiee; Tabibian, Shadi; Soori, Shahrzad; Moradi, Es'hagh; Bamedi, Taregh; Asadi, Mansour; Jalalvand, Masumeh; Shamsizadeh, Morteza
2017-05-01
Rare bleeding disorders (RBDs) are heterogeneous disorders, mostly inherited in an autosomal recessive pattern. Iran is a Mideast country with a high rate of consanguinity that has a high rate of RBDs. In this study, we present prevalence and clinical presentation as well as management and genetic defects of Iranian patients with RBDs. For this study, all relevant publications were searched in Medlin until 2015. Iran has the highest global incidence of factor XIII deficiency. Factor VII deficiency also is common in Iran, while factor II deficiency, with a prevalence of 1 per ∼3 million, is the rarest form of RBDs. Factor activity is available for all RBDs except for factor XIII deficiency, in which clot solubility remains as a diagnostic test. Molecular analysis of Iranian patients with RBDs revealed a few recurrent, common mutations only in patients with factor XIII deficiency, and considerable novel mutations in other RBDs. Clinical manifestations of these patients are variable and patients with factor XIII, factor X and factor VII more commonly presented severe life-threatening bleeding, while patients with combined factor V and factor VIII presented a milder phenotype. Plasma-derived products are the most common therapeutic choice in Iran, used prophylactically or on-demand for the management of these patients. Since Iran has a high rate of RBDs with life-threatening bleeding, molecular studies can be used for carrier detection and, therefore, prevention of the further expansion of these disorders and their fatal consequence.
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Abnormal regulation of glycemia ("dysglycemia") has a very long time course, from its earliest stage, labeled pre-diabetes, to the onset of Type 2 diabetes (T2D), to the development of clinically detectable microvascular changes and measurable atherosclerosis, to clinically manifest complications with attendant morbidity and mortality. |
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Abnormal regulation of glycemia ("dysglycemia") has a very long time course, from its earliest stage, labeled pre-diabetes, to the onset of Type 2 diabetes (T2D), to the development of clinically detectable microvascular changes and measurable atherosclerosis, to clinically manifest complications with attendant morbidity and mortality. |
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Zhang, X A; Li, Y; Dai, C F
2016-02-01
The objective of this study is to investigate the clinical manifestations of the superior semicircular canal dehiscence syndrome(SSCDS) and the treatment strategies. Data from 20 cases diagnosed with SSCDS from September 2004 to December 2014 were retrospectively analyzed in this study. The clinical presentations including symptoms, signs, audiological and vestibular function examination, and their imaging characteristics and treatment strategies were reviewed. All of the patients demonstrated variable degree of vertigo. Four patients could not tolerate the environmental noise. Autophony was noted in nine cases, among whom, two patients could feel their eye movements and heart beat, one patient could feel his footstep, one patient couldn't endure the singing by himself. Slow component vertical tortional eye movement away from the effected eye were observed in twelve patients when loud noise was given or middle ear or intracranial pressure increased. Head movement was induced by loud noise in one case. Ten patients presented with low frequency hearing loss. One case was concomitance with chronic otitis media and demonstrated severe sensorineural hearing loss. Nine patients demonstrated normal hearing. Decreased thresholds were showed by VEMP examination in six cases. Variable bone defect overlying in the SSCDS was confirmed by CT scans in all of the cases. The surgical repair of the superior semicircular canal dehiscence was performed through the middle cranial fossa approach in three cases and mastoid approach in two cases. The dizziness and the autophony were significantly alleviated after surgery. The clinical manifestations of SSCDS mainly demonstrate dizziness, autophony and loss of low frequency hearing. Treatment strategies are mainly composed of avoidance of environmental noise and shouting voice of the patients themselves. Surgical repair of the superior semicircular canal dehiscence was proposed to conduct, either through the middle cranial fossa approach
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Caffeine-induced psychiatric manifestations: a review.
Wang, Hee Ryung; Woo, Young Sup; Bahk, Won-Myong
2015-07-01
The association between caffeine consumption and various psychiatric manifestations has long been observed. We present two cases that show the ability of caffeine to induce psychotic and manic symptoms, and we also review the extant literature on caffeine-induced psychiatric manifestations. On the basis of our own and others' findings, we suggest that caffeine may be related to not only de-novo psychotic or mood symptoms but also to aggravation of pre-existing psychotic or mood disorders. We therefore suggest that caffeine consumption among patients with mood or psychotic symptoms should be assessed carefully in clinical practice as part of routine psychiatric evaluations.
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Oral manifestations in Kindler syndrome: case report and discussion of literature findings.
Barbosa, Nathalia Mocellin; Visioli, Fernanda; Martins, Manoela Domingues; Martins, Marco Antônio Trevizani; Munerato, Maria Cristina
2016-07-01
Kindler syndrome is a rare genetic disorder showing some predominant clinical manifestations, for example, trauma-induced blisters, progressive poikiloderma, skin atrophy, and photosensitivity. Oral manifestations are not commonly described and can be often misdiagnosed. This report describes the case of a female patient diagnosed with Kindler syndrome showing the classical clinical features affecting the skin, in addition to oral lesions manifesting as keratotic plaques and ulcers affecting the buccal mucosa, floor of the mouth, alveolar ridge, hard palate, and soft palate. An incisional biopsy was performed to confirm the diagnostic hypothesis of an autoimmune lesion possibly related with the syndrome. Knowledge about the possible manifestations of the Kindler syndrome is important to improve its management. © 2016 Special Care Dentistry Association and Wiley Periodicals, Inc.
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Cardiac tamponade as an initial manifestation of systemic lupus erythematosus.
Carrion, Diego M; Carrion, Andres F
2012-06-12
Clinical manifestations of pericardial disease may precede other signs and symptoms associated with systemic lupus erythematosus. Although pericardial effusion is one of the most common cardiac problems in patients with systemic lupus erythematosus, haemodynamically significant effusions manifesting as cardiac tamponade are rare and require prompt diagnosis and treatment.
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Articular manifestations in patients with Lyme disease.
Vázquez-López, María Esther; Díez-Morrondo, Carolina; Sánchez-Andrade, Amalia; Pego-Reigosa, Robustiano; Díaz, Pablo; Castro-Gago, Manuel
To determine the percentage of Lyme patients with articular manifestations in NW Spain and to know their evolution and response to treatment. A retrospective study (2006-2013) was performed using medical histories of confirmed cases of Lyme disease showing articular manifestations. Clinical and laboratory characteristics, together with the treatment and evolution of the patients, were analysed. Seventeen out of 108 LD confirmed patients (15.7%) showed articular manifestations. Regarding those 17 patients, 64.7%, 29.4% and 5.9% presented arthritis, arthralgia and bursitis, respectively. The knee was the most affected joint. Articular manifestations were often associated to neurological, dermatological and cardiac pathologies. Otherwise, most patients were in Stage III. The 11.8% of the cases progressed to a recurrent chronic arthritis despite the administration of an appropriate treatment. Lyme disease patients showing articular manifestations should be included in the diagnosis of articular affections in areas of high risk of hard tick bite, in order to establish a suitable and early treatment and to avoid sequels. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.
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[Clinical manifestations of organizing pneumonia].
Hunter, Martín; Ludueña, Ana; Telias, Irene; Aruj, Patricia; Rausch, Silvia; Suárez, Juan Pablo
Organizing pneumonia is a clinical entity asociated with nonspecific symptoms and radiological findings and abnormalities in pulmonary function tests. It is defined by the characteristic histopathological pattern: filling of alveoli and respiratory bronchioles by plugs of granulation tissue. It can be idiopathic (COP) or secondary to other causes (SOP). It is an unusual finding and the clinical and radiographic findings are nonspecific. For specific diagnosis an invasive procedure has to be done, but often empirical treatment is started when there's a clinical suspicion. We describe the clinical characteristics of 13 patients with histological diagnosis of organizing pneumonia. Data was obtained from their medical records. The median age was 76 years and the median time to diagnosis from the onset of symptoms was 31 days. In 10 cases the diagnosis was made by transbronchial biopsy. 8 patients required hospitalization, 4 of them received high doses of steroids and 3 required ventilatory support. One patient died from a cause attributable to this entity and 5 relapsed. Dyspnea, cough and fever were the most frequent symptoms. Most patients had more than one tomographic pattern being the most common ground glass opacities and alveolar consolidation. Nine patients were diagnosed with COP and 4 with SOP. The most frequent underlying cause of SOP was drug toxicity. The clinical characteristics of the reported cases are consistent with previously published series. As an interesting feature, there was a group of patients that needed high doses of steroids and ventilatory support.
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Cardiac tamponade as an initial manifestation of systemic lupus erythematosus
Carrion, Diego M; Carrion, Andres F
2012-01-01
Clinical manifestations of pericardial disease may precede other signs and symptoms associated with systemic lupus erythematosus. Although pericardial effusion is one of the most common cardiac problems in patients with systemic lupus erythematosus, haemodynamically significant effusions manifesting as cardiac tamponade are rare and require prompt diagnosis and treatment. PMID:22693326
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Vertebral architecture in the earliest stem tetrapods.
Pierce, Stephanie E; Ahlberg, Per E; Hutchinson, John R; Molnar, Julia L; Sanchez, Sophie; Tafforeau, Paul; Clack, Jennifer A
2013-02-14
The construction of the vertebral column has been used as a key anatomical character in defining and diagnosing early tetrapod groups. Rhachitomous vertebrae--in which there is a dorsally placed neural arch and spine, an anteroventrally placed intercentrum and paired, posterodorsally placed pleurocentra--have long been considered the ancestral morphology for tetrapods. Nonetheless, very little is known about vertebral anatomy in the earliest stem tetrapods, because most specimens remain trapped in surrounding matrix, obscuring important anatomical features. Here we describe the three-dimensional vertebral architecture of the Late Devonian stem tetrapod Ichthyostega using propagation phase-contrast X-ray synchrotron microtomography. Our scans reveal a diverse array of new morphological, and associated developmental and functional, characteristics, including a possible posterior-to-anterior vertebral ossification sequence and the first evolutionary appearance of ossified sternal elements. One of the most intriguing features relates to the positional relationships between the vertebral elements, with the pleurocentra being unexpectedly sutured or fused to the intercentra that directly succeed them, indicating a 'reverse' rhachitomous design. Comparison of Ichthyostega with two other stem tetrapods, Acanthostega and Pederpes, shows that reverse rhachitomous vertebrae may be the ancestral condition for limbed vertebrates. This study fundamentally revises our current understanding of vertebral column evolution in the earliest tetrapods and raises questions about the presumed vertebral architecture of tetrapodomorph fish and later, more crownward, tetrapods.
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Smith, M E; Eller, N L; McFarland, H F; Racke, M K; Raine, C S
1999-10-01
A prominent feature of the clinical spectrum of multiple sclerosis (MS) is its high incidence of onset in the third decade of life and the relative rarity of clinical manifestations during childhood and adolescence, features suggestive of age-related restriction of clinical expression. Experimental allergic encephalomyelitis (EAE), a model of central nervous system (CNS) autoimmune demyelination with many similarities to MS, has a uniform rapid onset and a high incidence of clinical and pathological disease in adult (mature) animals. Like MS, EAE is most commonly seen and studied in female adults. In this study, age-related resistance to clinical EAE has been examined with the adoptive transfer model of EAE in SJL mice that received myelin basic protein-sensitized cells from animals 10 days (sucklings) to 12 weeks (young adults) of age. A variable delay before expression of clinical EAE was observed between the different age groups. The preclinical period was longest in the younger (<14 days of age) animals, and shortest in animals 6 to 8 weeks old at time of transfer. Young animals initially resistant to EAE eventually expressed well-developed clinical signs by 6 to 7 weeks of age. This was followed by a remitting, relapsing clinical course. For each age at time of sensitization, increased susceptibility of females compared to males was observed. Examination of the CNS of younger animal groups during the preclinical period showed lesions of acute EAE. Older age groups developed onset of signs coincident with acute CNS lesions. This age-related resistance to clinical EAE in developing mice is reminiscent of an age-related characteristic of MS previously difficult to study in vivo. The associated subclinical CNS pathology and age-related immune functions found in young animals may be relevant to the increasing clinical expression of MS with maturation, and may allow study of factors associated with the known occasional poor correlation of CNS inflammation and
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Bradford, Kathryn L; Moretti, Federico A; Carbonaro-Sarracino, Denise A; Gaspar, Hubert B; Kohn, Donald B
2017-10-01
Deficiency of adenosine deaminase (ADA, EC3.5.4.4), a housekeeping enzyme of purine metabolism encoded by the Ada gene, is a cause of human severe combined immune deficiency (SCID). Numerous deleterious mutations occurring in the ADA gene have been found in patients with profound lymphopenia (T - B - NK - ), thus underscoring the importance of functional purine metabolism for the development of the immune defense. While untreated ADA SCID is a fatal disorder, there are multiple life-saving therapeutic modalities to restore ADA activity and reconstitute protective immunity, including enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) with autologous gene-corrected hematopoietic stem cells (HSC). We review the pathogenic mechanisms and clinical manifestations of ADA SCID.
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Pauling, John D
2018-05-01
The cutaneous vascular manifestations of systemic sclerosis (SSc) comprise Raynaud's phenomenon, cutaneous ulceration, telangiectasia formation and critical digital ischaemia; each of which are associated with significant disease-related morbidity. Despite the availability of multiple classes of vasodilator therapy, many of which have been the subject of RCTs, a limited number of pharmacological interventions are currently approved for the management of cutaneous vascular manifestations of SSc. Areas covered: A major challenge has been demonstrating treatment efficacy with examples of promising therapies yielding contrasting results in controlled trial settings. Differences between consensus best-practice guidelines, evidence-based recommendations and marketing approvals in different jurisdictions has resulted in geographic variation in clinical practice concerning the management of cutaneous vascular manifestations of SSc. Difficulty demonstrating treatment efficacy risks waning industry engagement for drug development programmes in this field. This article highlights the key challenges in establishing treatment efficacy and barriers that must be overcome to support successful clinical trial programmes across the spectrum of cutaneous vascular manifestations of SSc. Expert commentary: The paucity of approved treatments for cutaneous vascular manifestations of SSc relates as much to challenges in clinical trial design and the need for reliable clinical trial endpoints, as to lack of therapeutic options.
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Neurological Manifestations of Dengue Infection.
Li, Guo-Hong; Ning, Zhi-Jie; Liu, Yi-Ming; Li, Xiao-Hong
2017-01-01
Dengue counts among the most commonly encountered arboviral diseases, representing the fastest spreading tropical illness in the world. It is prevalent in 128 countries, and each year >2.5 billion people are at risk of dengue virus infection worldwide. Neurological signs of dengue infection are increasingly reported. In this review, the main neurological complications of dengue virus infection, such as central nervous system (CNS), peripheral nervous system, and ophthalmic complications were discussed according to clinical features, treatment and possible pathogenesis. In addition, neurological complications in children were assessed due to their atypical clinical features. Finally, dengue infection and Japanese encephalitis were compared for pathogenesis and main clinical manifestations.
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The Heart of the Matter: Cardiac Manifestations of Endocrine Disease
Binu, Aditya John; Cherian, Kripa Elizabeth; Kapoor, Nitin; Chacko, Sujith Thomas; George, Oommen; Paul, Thomas Vizhalil
2017-01-01
Endocrine disorders manifest as a disturbance in the milieu of multiple organ systems. The cardiovascular system may be directly affected or alter its function to maintain the state of homeostasis. In this article, we aim to review the pathophysiology, diagnosis, clinical features and management of cardiac manifestations of various endocrine disorders. PMID:29285459
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Urrea-Quezada, Alejandro; González-Díaz, Mariana; Villegas-Gómez, Isaac; Durazo, María; Hernández, Jesús; Xiao, Lihua; Valenzuela, Olivia
2018-05-01
The aim of this study was to identify the clinical manifestations of cryptosporidiosis and the distribution of Cryptosporidium spp. and subtypes in children in Sonora, Mexico. Two subtypes of C. parvum, including IIaA15G2R1 and IIcA5G3a, and 6 subtypes of Cryptosporidium hominis, including IaA14R3, IaA15R3, IbA12G3, IdA23, IeA11G3T3, and a new subtype IaA14R11, were identified. Cryptosporidium as an etiologic agent for acute gastroenteritis is discussed.
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[Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome].
Chang, Guo-ying; Chen, Shao-ke; Gu, Xue-fan; Gong, Zhu-wen; Zhang, Qi-gang
2013-12-01
To analyze clinical manifestations and gene mutations in a child with severe short stature, explore its molecular mechanism and further clarify the diagnostic procedure for short stature. We observed clinical characteristics of a patient with short stature and did diagnostic examinations, assessed the function of GH-IGF-1 axis, and surveyed its family members.Genomic DNA was extracted from peripheral blood, GHR, IGFALS, STAT5b and GH1 gene were amplified by PCR for sequencing, including exons and splicing areas. The patient presented symmetrical short stature (height -8.2 SDS) and facial features, and other congenital abnormalities.It displayed non-growth hormone deficiency. The baseline value of GH was 21 µg/L, and the peak was 57.9 µg/L. The value of IGF-1 was less than 25 µg/L, and the IGFBP-3 less than 50 µg/L. And IGF-1 generation test showed no response. There was no similar patients in the family members.Sequencing of GHR in the patient revealed a homozygous point mutation (c.Ivs6+1G>A), and her father and mother had the same heterozygous mutation. The same mutation was not identified for her sister.No other candidate gene was found. As the result of combined clinical characteristics and lab examinations, as well as gene detection, the case was diagnosed with Laron syndrome and GHR gene mutation is the molecular mechanism.We should explicit the etiological diagnosis for short stature, and avoid missed diagnosis and misdiagnosis.
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Goetze, Steven; Hiernickel, Christian; Elsner, Peter
2017-01-01
One of the most important dermatologic side effects of doxycycline is photosensitivity. As doxycycline is important for malaria prophylaxis and malaria is mainly spread in countries with high sun radiation, special attention should be paid to this adverse effect. While there are many publications on the phototoxicity of tetracyclines in general, only a few exist focusing on doxycycline. The objective of this systematic review was to summarize all available reports on clinical manifestations, influencing factors like UV dose or dose of medication, and the possibilities of prevention by sun protection. This review is based on a systematic search in PubMed for articles in English and German and a manual search between 1990 and 2015. The number of publications is low. Clinical symptoms vary from light sunburn-like sensation (burning, erythema) to large-area photodermatitis. Also, onycholysis is possible. The triggering UV spectrum seems to consist mainly of UVA1 (340-400 nm), so UV-protective products should be used that cover this range. Travelers to tropical countries taking doxycycline for malaria prophylaxis need thorough medical counseling to avoid possibly severe phototoxic reactions. Evidence base must be improved for giving advice on appropriate prevention measures to travelers taking doxycycline and having a risk of significant sun exposure. © 2017 S. Karger AG, Basel.
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2008-01-01
Background The "out of Africa" model postulating single "southern route" dispersal posits arrival of "Anatomically Modern Human" to Indian subcontinent around 66–70 thousand years before present (kyBP). However the contributions and legacy of these earliest settlers in contemporary Indian populations, owing to the complex past population dynamics and later migrations has been an issue of controversy. The high frequency of mitochondrial lineage "M2" consistent with its greater age and distribution suggests that it may represent the phylogenetic signature of earliest settlers. Accordingly, we attempted to re-evaluate the impact and contribution of earliest settlers in shaping the genetic diversity and structure of contemporary Indian populations; using our newly sequenced 72 and 4 published complete mitochondrial genomes of this lineage. Results The M2 lineage, harbouring two deep rooting subclades M2a and M2b encompasses approximately one tenth of the mtDNA pool of studied tribes. The phylogeographic spread and diversity indices of M2 and its subclades among the tribes of different geographic regions and linguistic phyla were investigated in detail. Further the reconstructed demographic history of M2 lineage as a surrogate of earliest settlers' component revealed that the demographic events with pronounced regional variations had played pivotal role in shaping the complex net of populations phylogenetic relationship in Indian subcontinent. Conclusion Our results suggest that tribes of southern and eastern region along with Dravidian and Austro-Asiatic speakers of central India are the modern representatives of earliest settlers of subcontinent. The Last Glacial Maximum aridity and post LGM population growth mechanised some sort of homogeneity and redistribution of earliest settlers' component in India. The demic diffusion of agriculture and associated technologies around 3 kyBP, which might have marginalized hunter-gatherer, is coincidental with the decline of
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Ca Isotopes Fingerprinting the Earliest Crustal Evolution
NASA Astrophysics Data System (ADS)
Kreissig, K.; Elliott, T. R.
2001-12-01
The mechanisms of continent formation remain unclear and can be explained in two contrasting ways, using either a steady state crustal growth model involving massive crustal recycling or continuous crustal growth models. Recent developments in mass spectrometry manifest in the new Finnigan-Triton allow Ca isotopic measurements precise enough to use the K-Ca isotope system to address the problem of early Archaean crustal evolution. Due to a strong fractionation of 40K and 40Ca during continent formation and a non-linear growth of 40Ca, Archaean continental crust should show radiogenic initial Ca isotopic composition if large volumes of it have already been existed 3.6 Ga ago. Simple 15-step calculations predict a difference in 40Ca /44Ca of 9 epsilon units at 3.6 Ga between the two crustal growth models. To test this, as well as to study the earliest crust formation processes, plagioclase separates from Archaean provinces reflecting the initial Ca isotopic composition and a range of different whole rock samples have been analysed. Preliminary data for ~ 3.6 Ga old TTGs from Zimbabwe show 40Ca /44Ca indistinguishable from the mantle. This is in agreement with rather chondritic initial Sr and Nd data and might reflect a short residence time of the juvenile mafic oceanic crust before partial melting forming the first continental crust. In contrast, the first results for 3.65 Ga old samples from the Itsaq Gneiss Complex of southern West Greenland yield a more evolved radiogenic Ca signature. This can be interpreted in two different ways. Either as partial melting of juvenile mafic crust shortly after its formation but incorporating already existing crust as also suggested by the existence of older inherited zircons in these rocks and negative ɛ Hf values. Partial melting of mafic oceanic crust long after its formation so that 40K and 40Ca had time to evolve would be an alternative explanation. Importantly, there is no evidence so far for high growth and recycling rates
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[Clinical and neurophysiological manifestations of cerebral asymmetry in cervical dystonia].
Naryshkin, A G; Skoromets, T A; Gorelik, A L; Egorov, A Iu
2009-01-01
Based on the analysis of clinical and neurophysiological data with the use of up-to-date methods of EEG processing, the authors discuss a role of cerebral asymmetry (CA) in the pathogenesis of cervical dystonia (CD). Sixty-seven patients (31 male and 36 female) with CD have been studied. The pathological turn of the head to the right side (RT) was observed in 34 patients, to the left side (LT) - in 33 patients. The uni- or bilateral generalization of dystonic symptoms (Meig's syndrome, laterocollis) was found only in one-third of RT patients. The visual analysis of EEG of RT patients revealed the high level of EEG synchronization with signs of cortical irritation, with the prevalence in the left hemisphere, and the presence of focal epileptiform appearances in the temporal leads of the left or both hemispheres with the left-side prevalence. In LT patients, the EEG presentation was similar to normal but more often represented the variants of
EEG-pattern. In these cases, the apparent manifestations of CA were not found. The coherent analysis revealed the formation of the network of coherent links, with bilateral spread, in RT patients. This may suggest the functional inequivalence of the peripersonal space of right and left hand and the dominate significance of striopallidar and thalamic structures of the left hemisphere for the total brain activity. -
Diabetic neuropathy: Clinical manifestations and current treatments
Callaghan, Brian C.; Cheng, Hsinlin; Stables, Catherine L.; Smith, Andrea L.; Feldman, Eva L.
2014-01-01
Diabetic peripheral neuropathy is a prevalent, disabling condition. The most common manifestation is a distal symmetric polyneuropathy (DSP), but many patterns of nerve injury can occur. Currently, the only effective treatments are glucose control and pain management. While glucose control dramatically decreases the development of neuropathy in those with type 1 diabetes, the effect is likely much smaller in those with type 2 diabetes. High levels of evidence support the use of certain anticonvulsants and antidepressants for pain management in diabetic peripheral neuropathy. However, the lack of disease modifying therapies for diabetic DSP makes the identification of new modifiable risk factors essential. Intriguingly, growing evidence supports an association between metabolic syndrome components, including pre-diabetes, and neuropathy. Future studies are needed to further explore this relationship with implications for new treatments for this common disease. PMID:22608666
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Seferović-Mitrović, Jelena P; Lalić, Nebojsa M; Vujisić-Tesić, Bosiljka; Lalić, Katarina; Jotić, Aleksandra; Ristić, Arsen D; Giga, Vojislav; Tesić, Milorad; Milić, Natasa; Lukić, Ljiljana; Milicić, Tanja; Singh, Sandra; Seferović, Petar M
2011-01-01
Several cardiovascular manifestations in patients with diabetes may be asymptomatic. Left ventricular diastolic dysfunction (LVDD) is considered to be the earliest metabolic myocardial lesion in these patients, and can be diagnosed with tissue Doppler echocardiography. Silent myocardial ischemia (SMI) is a characteristic and frequently described form of ischemic heart disease in patients with diabetes. Objective The aim of the study was to assess the prevalence of LVDD and SMI in patients with type 2 diabetes, as well as to compare demographic, clinical, and metabolic data among defined groups (patients with LVDD, patients with SMI and patients with type 2 diabetes, without LVDD and SMI). We investigated 104 type 2 diabetic patients (mean age 55.4 +/- 9.1 years, 64.4% males) with normal blood pressure, prehypertension and arterial hypertension stage I. Study design included basic laboratory assessment and cardiological workup (transthoracic echocardiography and tissue Doppler, as well as the exercise stress echocardiography). LVDD was diagnosed in twelve patients (11.5%), while SMI was revealed in six patients (5.8%). Less patients with LVDD were using metformin, in comparison to other two groups (chi2 =12.152; p=0.002). Values of HDL cholesterol (F=4.515; p=0.013) and apolipoprotein A1 (F=5.128; p= 0.008) were significantly higher in patients with LVDD. The study confirmed asymptomatic cardiovascular complications in 17.3% patients with type 2 diabetes.
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Early Clinical Manifestations Associated with Death from Visceral Leishmaniasis
de Araújo, Valdelaine Etelvina Miranda; Morais, Maria Helena Franco; Reis, Ilka Afonso; Rabello, Ana; Carneiro, Mariângela
2012-01-01
Background In Brazil, lethality from visceral leishmaniasis (VL) is high and few studies have addressed prognostic factors. This historical cohort study was designed to investigate the prognostic factors for death from VL in Belo Horizonte (Brazil). Methodology The analysis was based on data of the Reportable Disease Information System-SINAN (Brazilian Ministry of Health) relating to the clinical manifestations of the disease. During the study period (2002–2009), the SINAN changed platform from a Windows to a Net-version that differed with respect to some of the parameters collected. Multivariate logistic regression models were performed to identify variables associated with death from VL, and these were included in prognostic score. Principal Findings Model 1 (period 2002–2009; 111 deaths from VL and 777 cured patients) included the variables present in both SINAN versions, whereas Model 2 (period 2007–2009; 49 deaths from VL and 327 cured patients) included variables common to both SINAN versions plus the additional variables included in the Net version. In Model 1, the variables significantly associated with a greater risk of death from VL were weakness (OR 2.9; 95%CI 1.3–6.4), Leishmania-HIV co-infection (OR 2.4; 95%CI 1.2–4.8) and age ≥60 years (OR 2.5; 95%CI 1.5–4.3). In Model 2, the variables were bleeding (OR 3.5; 95%CI 1.2–10.3), other associated infections (OR 3.2; 95%CI 1.3–7.8), jaundice (OR 10.1; 95%CI 3.7–27.2) and age ≥60 years (OR 3.1; 95%CI 1.4–7.1). The prognosis score was developed using the variables associated with death from VL of the latest version of the SINAN (Model 2). The predictive performance of which was evaluated by sensitivity (71.4%), specificity (73.7%), positive and negative predictive values (28.9% and 94.5%) and area under the receiver operating characteristic curve (75.6%). Conclusions Knowledge regarding the factors associated with death from VL may improve clinical management of patients and contribute
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Clinical manifestations of Clostridium difficile infection in a medical center in Taiwan.
Lai, Chih-Cheng; Lin, Sheng-Hsiang; Tan, Che-Kim; Liao, Chun-Hsing; Huang, Yu-Tsung; Hsueh, Po-Ren
2014-12-01
To investigate the clinical characteristics of Clostridium difficile infection (CDI) at a medical center in Taiwan. Patients with CDI were identified from medical records at the National Taiwan University Hospital (Taipei, Taiwan). The following information was gathered and analyzed to better understand the clinical manifestations of CDI: age; sex; underlying immunocompromised conditions; laboratory data; in-hospital mortality; and previous use of drugs such as antimicrobial agents, steroids, and antipeptic ulcer agents. During the years 2000-2010, 122 patients were identified as having CDI. This included 92 patients with nontoxigenic CDI (i.e., positive stool culture for C. difficile but negative results for toxins A and B) and 30 patients with toxigenic CDI (i.e., positive stool culture cultures for C. difficile and positive results for toxins A and B). Of the 122 patients, 48 (39%) patients were older than 65 years and most patients acquired the CDI while in the hospital. Active cancer was the most common reason for hospitalization, followed by diabetes mellitus, and end-stage renal disease. More than 90% of the patients had received antibiotics before acquiring CDI. The results of fecal leukocyte examinations were positive in 33 (27%) patients. The overall in-hospital mortality rate was 26.2%. There were no significant differences between patients with nontoxigenic CDI and patients with toxigenic CDI. Clostridium difficile infection can develop in healthcare facilities and in community settings, especially in immunocompromised patients. Copyright © 2013. Published by Elsevier B.V.
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Dietary specializations and diversity in feeding ecology of the earliest stem mammals.
Gill, Pamela G; Purnell, Mark A; Crumpton, Nick; Brown, Kate Robson; Gostling, Neil J; Stampanoni, M; Rayfield, Emily J
2014-08-21
The origin and radiation of mammals are key events in the history of life, with fossils placing the origin at 220 million years ago, in the Late Triassic period. The earliest mammals, representing the first 50 million years of their evolution and including the most basal taxa, are widely considered to be generalized insectivores. This implies that the first phase of the mammalian radiation--associated with the appearance in the fossil record of important innovations such as heterodont dentition, diphyodonty and the dentary-squamosal jaw joint--was decoupled from ecomorphological diversification. Finds of exceptionally complete specimens of later Mesozoic mammals have revealed greater ecomorphological diversity than previously suspected, including adaptations for swimming, burrowing, digging and even gliding, but such well-preserved fossils of earlier mammals do not exist, and robust analysis of their ecomorphological diversity has previously been lacking. Here we present the results of an integrated analysis, using synchrotron X-ray tomography and analyses of biomechanics, finite element models and tooth microwear textures. We find significant differences in function and dietary ecology between two of the earliest mammaliaform taxa, Morganucodon and Kuehneotherium--taxa that are central to the debate on mammalian evolution. Morganucodon possessed comparatively more forceful and robust jaws and consumed 'harder' prey, comparable to extant small-bodied mammals that eat considerable amounts of coleopterans. Kuehneotherium ingested a diet comparable to extant mixed feeders and specialists on 'soft' prey such as lepidopterans. Our results reveal previously hidden trophic specialization at the base of the mammalian radiation; hence even the earliest mammaliaforms were beginning to diversify--morphologically, functionally and ecologically. In contrast to the prevailing view, this pattern suggests that lineage splitting during the earliest stages of mammalian evolution was
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Amyopathic Dermatomyositis: A Concise Review of Clinical Manifestations and Associated Malignancies.
Udkoff, Jeremy; Cohen, Philip R
2016-10-01
Amyopathic dermatomyositis is a rare, idiopathic, connective tissue disease that presents with dermatologic lesions of classic dermatomyositis but lacks the myopathy of this disease. Cutaneous manifestations may include Gottron's sign, heliotrope rash, and characteristic patterns of poikiloderma. There is a substantial risk for developing interstitial lung disease or malignancy in patients with amyopathic dermatomyositis. A literature review of amyopathic dermatomyositis was performed using the PubMed medical database. The key features of amyopathic dermatomyositis, including autoantibodies, clinical presentation and dermatologic manifestations, epidemiology, history, associated malignancies, management, and pathogenesis, are summarized in this review. Cancer (solid tumor) (73/79, 89 %) and hematologic malignancies (9/79, 11 %) were reported in 79 patients, with three patients having more than one malignancy. In addition, there were six patients with amyopathic dermatomyositis who had tumor of unknown primary, and eight patients with cancer-associated amyopathic dermatomyositis for whom no additional details were provided. From the group of 73 tumors for whom primary origin and sex were available, malignancy of the genitourinary organs (24/73, 33 %), aerorespiratory organs (15/73, 21 %), and breast (14/73, 19 %) were the most commonly observed solid organ tumors. Tumors of the genitourinary organs (15/48, 31 %) and breast (14/48, 29 %) were the most frequent neoplasms in women, accounting for 29 of 48 (60 %) cancers, with the most common sites being breast (14/48, 29 %), ovary (8/48, 17 %), and cervix or uterus (5/48, 10 %). In men, tumors of the aerorespiratory (9/25, 36 %) and genitourinary (9/25, 36 %) tracts were the most common neoplasms, accounting for 72 % (18/25) of cancers; the most common sites of primary malignancy were nasopharyngeal (6/25, 24 %), bladder (4/25, 16 %), and either colorectal, lung or prostate cancer (three cancers each
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The initial (earliest) report of polymorphous ventricular tachycardia.
Jani, Sonal; Schweitzer, Paul
2006-07-01
In these short historical notes, we describe the early history of polymorphic ventricular tachycardia. Polymorphous ventricular tachycardia was probably first noted in 1918 by Wilson and Robinson. In a publication describing complete heart block and ventriculophasic arrhythmia, they noted a tachyarrhythmia characterized by multiple extrasystoles of different types at a rapid rate. Also, we briefly discuss the earliest recognized torsades de pointes by Dessertenes in 1966 and the first description of catecholaminergic polymorphic ventricular tachycardia, by Reid in 1977.
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Atypical Cutaneous Manifestations in Syphilis.
Ivars Lleó, M; Clavo Escribano, P; Menéndez Prieto, B
2016-05-01
Although the diversity of the clinical manifestations of syphilis is well-known, atypical presentations can also occur. Such atypical presentations are associated with a high risk of transmission as a result of diagnostic confusion and treatment delays owing to the disease's ability to mimic other common skin diseases, deviate from classic clinical presentations, and adopt unique forms. Cases of atypical syphilis have been described most frequently in patients with concomitant human immunodeficiency virus (HIV) infection. Because the incidence of syphilis has been growing over recent years -particularly in patients with HIV co-infection- dermatologists need to be familiar with the less well-known clinical presentations of this venereal disease. Copyright © 2015 AEDV. Published by Elsevier España, S.L.U. All rights reserved.
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[Thoracic manifestation of tuberculosis].
Kienzl-Palma, D; Prosch, H
2016-10-01
Tuberculosis (TB) is a granulomatous disease caused by Mycobacterium tuberculosis and transmission is via an airborne route by droplet infection. In the majority of cases patients have thoracic TB, which most frequently presents with hilar lymphadenopathy and pulmonary manifestation. Due to the rise in incidence of TB in central Europe to be expected over the coming years, it is essential to be acquainted with the radiological manifestations of pulmonary TB, particularly to be able to discriminate active from inactive TB. Due to the use of molecular techniques entailing DNA fingerprinting, the traditional classification of TB in primary and postprimary TB is being challenged. These genetic studies have revealed that variations in the clinical and radiographic appearance of TB are mainly affected by the immune status of the patients. Due to the low prevalence of TB in central Europe and the wide variation of radiological presentations, the diagnosis and therapy of TB is often delayed. In this article, the radiographic manifestations of thoracic TB are summarized and discussed. Together with the medical history and bacteriological tests, chest X‑ray imaging and computed tomography (CT) play a major role not only in the detection of TB but also in the follow-up during and after therapy. Chest X‑radiographs should be the primary diagnostic method in patients with suspected TB in screening as well as for diagnosis and therapy monitoring. The use of CT is more sensitive than chest radiographs and is frequently performed after chest radiographs to obtain detailed information about subtle parenchymal changes or lymph node manifestation. When active TB is suspected CT should be performed. Tree in bud, lobular consolidations, centrilobular nodules, cavities and ground-glass opacification are typical changes in active TB.
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[Acute encephalitis. Neuropsychiatric manifestations as expression of influenza virus infection].
Moreno-Flagge, Noris; Bayard, Vicente; Quirós, Evelia; Alonso, Tomás
2009-01-01
The aim is to review the encephalitis in infants and adolescents as well as its etiology, clinical manifestation, epidemiology, physiopathology, diagnostic methods and treatment, and the neuropsyquiatric signs appearing an influenza epidemy. Encephalitis is an inflammation of the central nervous system (CNS) which involves the brain. The clinical manifestations usually are: headache, fever and confusional stage. It could also be manifested as seizures, personality changes, or psiqyiatric symptoms. The clinical manifestations are related to the virus and the cell type affected in the brain. A meningitis or encephalopathy need to be ruled out. It could be present as an epidemic or isolated form, beeing this the most frequent form. It could be produced by a great variety of infections agents including virus, bacterias, fungal and parasitic. Viral causes are herpesvirus, arbovirus, rabies and enterovirus. Bacterias such as Borrelia burgdorferi, Rickettsia and Mycoplasma neumoniae. Some fungal causes are: Coccidioides immitis and Histoplasma capsulatum. More than 100 agents are related to encephalitis. The diagnosis of encephalitis is a challenge for the clinician and its infectious etiology is clear in only 40 to 70% of all cases. The diagnosis of encephalitis can be established with absolute certainty only by the microscopic examination of brain tissue. Epidemiology is related to age of the patients, geographic area, season, weather or the host immune system. Early intervention can reduce the mortality rate and sequels. We describe four patients with encephalitis and neuropsychiatric symptoms during an influenza epidemic.
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Cacao usage by the earliest Maya civilization.
Hurst, W Jeffrey; Tarka, Stanley M; Powis, Terry G; Valdez, Fred; Hester, Thomas R
2002-07-18
The Maya archaeological site at Colha in northern Belize, Central America, has yielded several spouted ceramic vessels that contain residues from the preparation of food and beverages. Here we analyse dry residue samples by using high-performance liquid chromatography coupled to atmospheric-pressure chemical-ionization mass spectrometry, and show that chocolate (Theobroma cacao) was consumed by the Preclassic Maya as early as 600 bc, pushing back the earliest chemical evidence of cacao use by some 1,000 years. Our application of this new and highly sensitive analytical technique could be extended to the identification of other ancient foods and beverages.
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Gamaletsou, Maria N; Rammaert, Blandine; Bueno, Marimelle A; Sipsas, Nikolaos V; Moriyama, Brad; Kontoyiannis, Dimitrios P; Roilides, Emmanuel; Zeller, Valerie; Taj-Aldeen, Saad J; Henry, Michael; Petraitis, Vidmantas; Denning, David W; Lortholary, Olivier; Walsh, Thomas J
2017-04-01
Aspergillus arthritis is a debilitating form of invasive aspergillosis. Little is known about its epidemiology, clinical manifestations, laboratory features, treatment, and prognosis. Cases of Aspergillus arthritis were reviewed in the English literature from 1967 through 2015 for variables of arthritis with Aspergillus spp. recovered from joint and/or adjacent bone, underlying conditions, symptoms, signs, inflammatory biomarkers, diagnostic imaging, management, and outcome. Among 31 evaluable cases, 87% were males and 13% pediatric. Median age was 50 y (range 1-83 y). Seventeen (55%) patients were immunosuppressed with such conditions as hematological malignancies (26%), corticosteroids (39%), and/or transplantation (26%). Approximately one-half (52%) of patients had hematogenous seeding of the joint, and more than 80% had de novo infection with no prior antifungal therapy. Oligoarticular infection (2-3 joints) occurred in 45% and contiguous osteomyelitis was present in 61%. Clinical manifestations included pain (87%), edema (26%), and limited function (23%), with knees (35%), intervertebral discs (26%), and hips (16%) being most commonly infected. Aspergillus fumigatus constituted 77% of cases followed by Aspergillus flavus in 13%, Aspergillus niger in 3%, and not specified in 7%. Median ESR was 90 mm/hr and median CRP was 3.6 mg/dl. Median synovial fluid WBC was 17,200/μL (7,300-128,000) with 72% PMNs (range 61-92). Osteolysis occurred in 35%, and soft-tissue extension 47%. Nineteen patients (61%) were managed with combined medical and surgical therapy, 10 (32%) with medical therapy only, and 2 (6%) surgery only. Amphotericin B and itraconazole were the most frequently used agents with median duration of therapy of 219 days (range 30-545). Surgical interventions included debridement in 61%, drainage 19%, and amputation 6%. Complete or partial response was achieved in 71% and relapse occurred in 16%. Medical therapy was reinstituted with successful outcome in
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Vigato-Ferreira, Isabel Cristina Costa; Toller-Kawahisa, Juliana Escher; Pancoto, João Alexandre Trés; Mendes-Junior, Celso Teixeira; Martinez, Edson Zangiacomi; Donadi, Eduardo Antônio; Louzada-Júnior, Paulo; Del Lama, José Eduardo Cavalcanti; Marzocchi-Machado, Cleni Mara
2014-11-01
In this study, we aimed to investigate whether the distribution of the FcγRIIa and FcγRIIIb polymorphisms determines susceptibility to systemic lupus erythematosus (SLE) and acts as predictors of SLE clinical manifestations in the Brazilian patients. A total of 157 patients that fulfilled the American College of Rheumatology classification criteria for SLE and 160 healthy volunteers were included in this study. FCGR2A and FCGR3B genotypes were determined by polymerase chain reaction-based allotyping methods with allele-specific primers; the clinical features were obtained from the patients' official medical records. In the case of FcγRIIa polymorphism, it was observed association of the allele FCGR2A-R-131 (p = 0.02, odds ratio (OR)=1.44) and genotype RR-131 (p = 0.03, OR = 2.09) with SLE. These associations were higher with allele (p < 0.01, OR = 1.67) as well genotype (p = 0.01, OR = 2.85) when lupus nephritis was considered. In contrast, the allele FCGR2A-H-131 was associated with susceptibility to arthritis and anti-DNA antibodies (p = 0.05 for both). As for FcγRIIIb polymorphism, skewing did not differ significantly between patients and controls, however the genotype FCGR3B*02*02 was associated with susceptibility to arthritis (p = 0.02) and malar rash (p = 0.03), but no association with nephritis was found. The results demonstrate that FcγRIIa polymorphism is associated with susceptibility to SLE in Brazilian patients, whereas for FcγRIIIb polymorphism no association was found. However, notably, both polymorphisms present allelic variants that influence the clinical manifestations and may contribute to the pathogenesis of the disease. In addition, to our knowledge, this is the first study considering the frequency of FcγRIIIb polymorphism in Brazilian SLE patients.
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Hazardous Waste Electronic Manifest System (e-Manifest) Advisory Board
This page is all about the e-manifest Advisory board, formed under the Federal Advisory Committee Act, and part of the EPA's e-manifest development process. Here you can learn about the members and their meetings.
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Lee, Chien-Chung; Lin, Jainn-Jim; Lin, Kuang-Lin; Lim, Wai-Ho; Hsu, Kai-Hsiang; Hsu, Jen-Fu; Fu, Ren-Huei; Chiang, Ming-Chou; Chu, Shih-Ming; Lien, Reyin
2017-06-01
Perinatal stroke is a common cause of established neurological sequelae. Although several risk factors have been identified, many questions regarding causes and clinical outcomes remain unanswered. This study investigated the clinical manifestations and outcomes of perinatal stroke and identified its etiologies in Taiwan. We searched the reports of head magnetic resonance imaging and computed tomography performed between January 2003 and December 2012. The medical records of enrolled infants with perinatal stroke were also reviewed. Thirty infants with perinatal stroke were identified; 10 infants had perinatal arterial ischemic stroke (PAIS) and 20 had perinatal hemorrhagic stroke (PHS). Neonatal seizure was the most common manifestation and presented in 40% of infants with PAIS and 50% of infants with PHS. All survivors with PAIS and 77% of the surviving infants with PHS developed neurological sequelae. Acute seizure manifestation was associated with poststroke epilepsy in infants with PHS but not in infants with PAIS (86% vs. 0%, p=0.005). PAIS was mostly caused by dysfunctional hemostasis (20%) and embolism (20%), whereas PHS was mostly attributable to birth asphyxia (30%). Perinatal stroke is associated with high mortality and morbidity rates in infants. Clinically, it can be difficult to distinguish PAIS and PHS. One should keep a high level of suspicion, especially for PHS, if infants develop unexplained seizure, cyanosis, conscious change, anemia, and/or thrombocytopenia. A systematic diagnostic approach is helpful in identifying the etiologies of perinatal stroke. Copyright © 2016. Published by Elsevier B.V.
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This is the primary hub for those seeking information about the e-Manifest system, its advisory board, and its development. Once the system is complete this area will serve as the portal into the e-Manifest system from EPA webpages.
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Cui, Xianghua; Zhou, Tao; Jiang, Dalei; Liu, Huiya; Wang, Jian; Yuan, Shengan; Li, Hongyun; Yan, Peng; Gao, Yanjing
2017-08-01
To improve the diagnostic rate of gastric lymphoma by analyzing clinical and endoscopic features of patients with gastric lymphoma and suspected gastric lymphoma. Clinical and endoscopic records of 35 patients with gastric lymphoma (positive group) and 133 patients with suspected gastric lymphoma but subsequent non-malignant pathology (negative group) were analyzed retrospectively. Data from another 99 gastric lymphoma patients with malignant pathology but nonspecific endoscopy (endoscopy non-suspect group) were analyzed. Abdominal pain was the predominant symptom reported in both the positive and negative lymphoma groups, representing 60.0 and 52.5%, respectively. No significant differences in age, sex and clinical manifestations in subjects from the two groups were found. In the positive group, 54.3% were ulcerative; 34.3%, infiltrative; 8.5%, polypoid; and 2.9%, granulonodular. In the negative group, 52.6% were infiltrative; 42.1%, ulcerative; 4.5%, granulonodular; and 0.75%, polypoid. The endoscopic results varied between the two groups (p < 0.05). In the non-suspect group, 66.7% were ulcerative; 17.2%, infiltrative; 14.1%, polypoid; and 2.0%, granulonodular. With regards to histology, diffuse large B cell lymphoma was the most common subtype. The sensitivity of endoscopy was 60% for detecting malignancy and 21% for gastric lymphoma. The present study suggests that gastric lymphoma and suspected gastric lymphoma have similar clinical features. Gastric lymphoma presented mainly as macroscopic ulcerative lesions, whereas suspected gastric lymphoma appeared mainly as infiltrative lesions. Although the diagnostic rate of gastric lymphoma was relatively low (21%), it can be identified by endoscopy (60%). To improve diagnosis, repetitive endoscopic biopsies should be performed and novel endoscopic techniques developed in the future.
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Thiebault, Henri; Boyard-Lasselin, Pauline; Guignant, Caroline; Guillaume, Nicolas; Wacrenier, Adrien; Sabbagh, Charles; Rebibo, Lionel; Brazier, Franck; Meynier, Jonathan; Nguyen-Khac, Eric; Dupas, Jean-Louis; Goëb, Vincent; Fumery, Mathurin
2016-08-01
Articular involvement is the most common extraintestinal manifestation associated with inflammatory bowel diseases (IBDs). Manifestations are 'paradoxical' when they occur during treatment, notably with anti-tumor necrosis factor (anti-TNF) drugs, which are expected to prevent or treat them. The aim of this study was to assess the frequency, characteristics, and associated factors of paradoxical articular manifestations in patients with IBD treated with anti-TNF. In this prospective single-center study, an examination by a rheumatologist was systematically offered to all patients with IBD treated with infliximab (IFX) to assess the prevalence of articular manifestations and distinguish between those related to treatment and those associated with intestinal disease. Paradoxical manifestations were defined as the occurrence of articular manifestations (excluding induced lupus and hypersensitivity reactions) during anti-TNF therapy in patients with intestinal remission. Measures of biological inflammatory, immunological markers, HLA-B27 allele, IFX trough levels, and anti-IFX antibody (Ab) were performed for all patients. Between May 2013 and April 2014, 65 patients with Crohn's disease and 15 with patients ulcerative colitis treated with IFX were included. The median duration of anti-TNF therapy was 66 months [quartile (Q)1=23 months-Q3=81 months]. Articular manifestations were observed in 50 (62%) patients treated with IFX. Eleven percent (n=9) were considered to be associated with IBD and 16% (n=13) to be associated with anti-TNF therapy. Among articular manifestations associated with anti-TNF therapy, nine (11%) patients were considered paradoxical, two (2%) as drug-induced lupus, and two (2%) as a hypersensitivity reaction. Among the nine patients with paradoxical manifestations, all had Crohn's disease in clinical remission, three patients presented a spondyloarthropathy, and three developed associated paradoxical psoriasis. No patient discontinued anti
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Paulsen, Jane S; Long, Jeffrey D; Ross, Christopher A; Harrington, Deborah L; Erwin, Cheryl J; Williams, Janet K; Westervelt, Holly James; Johnson, Hans J; Aylward, Elizabeth H; Zhang, Ying; Bockholt, H Jeremy; Barker, Roger A
2014-12-01
Although the association between cytosine-adenine-guanine (CAG) repeat length and age at onset of Huntington's disease is well known, improved prediction of onset would be advantageous for clinical trial design and prognostic counselling. We compared various measures for tracking progression and predicting conversion to manifest Huntington's disease. In this prospective observational study, we assessed the ability of 40 measures in five domains (motor, cognitive, psychiatric, functional, and imaging) to predict time to motor diagnosis of Huntington's disease, accounting for CAG repeat length, age, and the interaction of CAG repeat length and age. Eligible participants were individuals from the PREDICT-HD study (from 33 centres in six countries [USA, Canada, Germany, Australia, Spain, UK]) with the gene mutation for Huntington's disease but without a motor diagnosis (a rating below 4 on the diagnostic confidence level from the 15-item motor assessment of the Unified Huntington's Disease Rating Scale). Participants were followed up between September, 2002, and July, 2014. We used joint modelling of longitudinal and survival data to examine the extent to which baseline and change of measures analysed separately was predictive of CAG-adjusted age at motor diagnosis. 1078 individuals with a CAG expansion were included in this analysis. Participants were followed up for a mean of 5·1 years (SD 3·3, range 0·0-12·0). 225 (21%) of these participants received a motor diagnosis of Huntington's disease during the study. 37 of 40 cross-sectional and longitudinal clinical and imaging measures were significant predictors of motor diagnosis beyond CAG repeat length and age. The strongest predictors were in the motor, imaging, and cognitive domains: an increase of one SD in total motor score (motor domain) increased the risk of a motor diagnosis by 3·07 times (95% CI 2·26-4·16), a reduction of one SD in putamen volume (imaging domain) increased risk by 3·32 times (2·37-4
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Tan, B E; Thong, B Y H; Shivananda, S; Han, W W; Chng, H H
2009-07-01
To examine the clinical manifestations, intensity of oral anticoagulation and outcomes in the prevention of recurrent thromboses in patients with antiphospholipid syndrome (APS) in a tertiary rheumatology centre in Singapore. Retrospective case review of consecutive patients with APS attending a rheumatology clinic from 1st January 2004 to 31st December 2005. There were 59 (44%) patients with definite APS and 75 (56%) with probable APS. Systemic lupus erythematosus (SLE) was the most common cause of secondary APS. Hypertension and hyperlipidaemia were the most common cardiovascular comorbidities. The most common manifestations were haematological (thrombocytopaenia and haemolytic anaemia), neurological (seizure, headache) and pulmonary hypertension. Among those with definite APS, there were similar proportions with arterial and venous thromboses. Recurrent thromboses occurred in 14 (23.7%) patient with definite APS receiving warfarin, comprising 14 (73.7%) episodes of arterial and 5 (26.3%) episodes of venous thromboses. Recurrent arterial thromboses occurred at international normalized ratio (INR) of <2 in 5 (35.7%), INR 2-3 in 6 (42.9%), INR > 3 in 3 (21.4%) episodes, respectively. Recurrent venous thromboses occurred at INR < 2 in 4 (80.0%) and INR > 3 in 1 (20.0%) episode, respectively. Twenty-eight episodes of bleeding occurred in 21 (35.6%) patients, the majority (78.6%) being minor bleeding. Two-thirds of all major bleeds occurred at INR >/= 3. Venous and arterial thromboses were equally common in our patients with definite APS, although recurrent thromboses were more common in the arterial circulation. Target INR > 3 was associated with lower rates of recurrent arterial thromboses but higher rates of major and recurrent bleeding. Target INR >/= 2 appeared to be sufficient to prevent recurrent venous thromboses.
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Earliest evidence for arthrogryposis multiplex congenita or Larsen syndrome?
Anderson, T
1997-08-08
A sixteenth-century illustrated pamphlet from Great Britain suggests that documentary evidence may permit accurate diagnosis of pathological conditions in earlier societies. The document is of particular importance, since the presented congenital abnormalities, including cleft lip, spina bifida cystica, genu recurvatum, and talipes deformity are reported rarely in archaeological skeletal material. It is suggested that the combination of abnormalities may represent the earliest case of arthrogryposis multiplex congenita or Larsen syndrome.
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Clinical and Mechanistic Insights into the Genetics of Cardiomyopathy
Burke, Michael A.; Cook, Stuart A.; Seidman, Jonathan G.; Seidman, Christine E.
2018-01-01
Over the last quarter-century, there has been tremendous progress in genetics research that has defined molecular causes for cardiomyopathies. More than a thousand mutations have been identified in many genes with varying ontologies, therein indicating the diverse molecules and pathways that cause hypertrophic, dilated, restrictive, and arrhythmogenic cardiomyopathies. Translation of this research to the clinic via genetic testing can precisely group affected patients according to molecular etiology, and identify individuals without evidence of disease who are at high risk for developing cardiomyopathy. These advances provide insights into the earliest manifestations of cardiomyopathy and help to define the molecular pathophysiological basis for cardiac remodeling. Although these efforts remain incomplete, new genomic technologies and analytic strategies provide unparalleled opportunities to fully explore the genetic architecture of cardiomyopathies. Such data hold the promise that mutation-specific pathophysiology will uncover novel therapeutic targets, and herald the beginning of precision therapy for cardiomyopathy patients. PMID:28007147
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Masdrakis, Vasilios G; Papageorgiou, Charalambos; Markianos, Manolis
2017-09-01
Preclinical studies suggest the implication of the adipocyte hormone leptin in anxiety and fear processes. We explored for potential differences regarding plasma leptin, cortisol and the ratio leptin/Body Mass Index (BMI) between 27 medication-free female patients with Panic Disorder (PD) and 42 age-matched female controls, and for potential associations between plasma leptin and psychometric evaluations including number of panic attacks during last week, Clinical Global Impression-Severity of Illness (CGI-S) and Symptoms Checklist-90-Revised (SCL-90-R). Cortisol levels showed no differences between patients and controls, or correlations to leptin or to any clinical features. Both groups demonstrated a strong positive correlation between leptin and BMI and similar leptin and leptin/BMI, despite patients' lower BMI. However, patients -but not controls- demonstrated significant negative correlations of leptin to the 'somatization', 'anxiety', and 'phobic anxiety' SCL-90-R subscales. Moreover, there was a significant negative correlation of leptin and of leptin/BMI ratio to the number of panic attacks during last week, while higher CGI-S was associated with lower leptin/BMI ratio. Our results, limited to PD female patients, suggest that lower leptin serum levels are significantly associated with greater severity of psychopathological manifestations, including number of panic attacks, symptoms of somatization, anxiety and phobic anxiety and overall clinical presentation. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.
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Neuropathological Basis of Non-Motor Manifestations of Parkinson’s Disease
Adler, Charles H.; Beach, Thomas G.
2016-01-01
Non-motor manifestations of Parkinson’s disease (PD) can begin well before motor PD begins. It is now clear, from clinical and autopsy studies, that there is significant Lewy type alpha-synucleinopathy present outside the nigro-striatal pathway, and that this may underlie these non-motor manifestations. This review will discuss neuropathological findings that may underlie non-motor symptoms that either predate motor findings or occur as the disease progresses. PMID:27030013
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A Rare Manifestation of Hypothyroid Myopathy: Hoffmann's Syndrome
Lee, Kang Won; Kim, Kyoung Jin; Kim, Sang Hyun; Kim, Hee Young; Kim, Byung-Jo; Kim, Sin Gon; Choi, Dong Seop
2015-01-01
Hypothyroid myopathy is observed frequently and the resolution of the clinical manifestations of myopathy following thyroid hormone replacement is well known. However, a specific subtype of hypothyroid myopathy, Hoffmann's syndrome, characterized by increased muscular mass (pseudohypertrophy), proximal muscle weakness, muscle stiffness and cramps, is rarely reported. Herein, we describe a 34-year-old male who presented with proximal muscle weakness and non-pitting edema of the lower extremities. He initially visited the neurology department where he was suspected of having polymyositis. Additional laboratory evaluation revealed profound autoimmune hypothyroidism and elevated muscle enzymes including creatine kinase. The patient was started on levothyroxine treatment and, subsequently, clinical symptoms and biochemical parameters resolved with the treatment. The present case highlights that hypothyroidism should be considered in the differential diagnosis of musculoskeletal symptoms even in the absence of overt manifestations of hypothyroidism. To our knowledge, this is the first case reported in Korea. PMID:26394732
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Schnitt, Stuart J
2003-01-01
Flat epithelial atypia is a descriptive term that encompasses lesions of the breast terminal duct lobular units in which variably dilated acini are lined by one to several layers of epithelial cells, which are usually columnar in shape and which display low-grade cytologic atypia. Observational studies have suggested that at least some of these lesions may represent either a precursor of ductal carcinoma in situ (DCIS) or the earliest morphological manifestation of DCIS. In contrast, the limited available clinical follow-up data suggest that the risk of both local recurrence and progression of these lesions to invasive cancer is extremely low, supporting the notion that categorizing such lesions as 'clinging carcinoma' and managing them as if they were fully developed DCIS will result in overtreatment of many patients. Additional studies are needed to better understand the biological nature and clinical significance of these lesions. PMID:12927037
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Sharapova, Svetlana O; Guryanova, Irina E; Pashchenko, Olga E; Kondratenko, Irina V; Kostyuchenko, Larisa V; Rodina, Yulia A; Varlamova, Tatjana V; Bondarenko, Anastasiia V; Chernyshova, Liudmyla I; Gyseva, Marina N; Belevtsev, Mikhail V; Minakovskaya, Nina V; Aleinikova, Olga V
2016-01-01
Omenn syndrome [Mendelian Inheritance (OMIM 603554)] is a genetic disease of the immune system, characterized by the presence of fatal generalized severe erythroderma, lymphoadenopathy, eosinophilia and profound immunodeficiency. We studied clinical and immunologic presentation of the disease manifestation among East Slavs population with genetically confirmed Omenn syndrome. We collected clinical and immunologic data of 11 patients (1 from Belarus, 5--Ukraine, 5--Russia): 6 females, 5 males. The age of Omenn syndrome manifestation varied from the 1st day of life to 1 year and 1 month, the age of diagnosis--20 days to 1 year and 10 months. Nine out of 11 patients had classic immunologic phenotype T(+/-)B-NK+, 1 pt had TlowB + NK+ with CD3 + TCRgd + expansion and 1 had TlowB+/-NK+ phenotype. Eight out of 11 pts had mutation in RAG1 gene, 4 out of 8 had c.368-369delAA (p.K86fsX118) in homozygous state or heterozygous compound. In our cohort of patients, we also described two new mutations in RAG genes (p.E722Q in RAG1 and p.M459R in RAG2). At present, 7/11 were transplanted and 5 out of the transplanted are alive. This study demonstrates that the most popular genetic abnormality in East Slavs children with Omenn syndrome is c.368-369delAA (p.K86fs118) in RAG1 gene, which may be connected with more favorable prognosis because 4/4 patients survived after hematopoietic stem cells transplantation.
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Fazeli Farsani, Soulmaz; Souverein, Patrick C; van der Vorst, Marja M J; Mantel-Teeuwisse, Aukje K; Knibbe, Catherijne A J; de Boer, Anthonius
2014-01-01
There is a highly variable asymptomatic period of beta cell destruction prior to the clinical presentation of type1 diabetes. It is not well known what triggers type 1 diabetes to become a clinically overt disease. This explorative study aimed to identify the association between disease history/medication use and the clinical manifestation of type 1 diabetes. An explorative case control study was conducted in the Dutch PHARMO Record Linkage System. Cases (n = 1,107) were younger than 25 years and had at least 2 insulin prescriptions between 1999 and 2009. For each case, up to 4 controls (without any prescription for the glucose lowering medications (n = 4,424)) were matched by age and sex. Conditional logistic regression analysis was used to evaluate the association between disease history/medication use in the year prior to the diagnosis of type 1 diabetes and clinical manifestation of this disease. Type1 diabetes was significantly associated with a history of mental disorder (odds ratio (OR) 8.0, 95% confidence interval (CI) 1.5-43.7), anemia (OR 5.1, 95% CI 1.1-22.9), and disease of digestive system (OR 2.6, 95% CI 1.2-5.5). The following drug exposures were significantly associated with the clinical manifestation of type 1 diabetes: "systemic hormonal preparations" (OR 1.7, 95% CI 1.1-2.6), medications for "blood and blood forming organs" (OR 1.6, 95% CI 1.1-2.6), "alimentary tract and metabolism" (OR 1.3, 95% CI 1.1-1.6), and "anti-infectives for systemic use" (OR 1.2, 95% CI 1.01-1.4). Our explorative study demonstrated that in the year prior to the presentation of type 1 diabetes in children and young adults, hospitalization for a diverse group of diseases and drug exposures were significantly more prevalent compared with age- and sex-matched diabetes-free controls.
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Ornaments of the earliest Upper Paleolithic: New insights from the Levant
Kuhn, Steven L.; Stiner, Mary C.; Reese, David S.; Güleç, Erksin
2001-01-01
Two sites located on the northern Levantine coast, Üçağızlı Cave (Turkey) and Ksar 'Akil (Lebanon) have yielded numerous marine shell beads in association with early Upper Paleolithic stone tools. Accelerator mass spectrometry (AMS) radiocarbon dates indicate ages between 39,000 and 41,000 radiocarbon years (roughly 41,000–43,000 calendar years) for the oldest ornament-bearing levels in Üçağızlı Cave. Based on stratigraphic evidence, the earliest shell beads from Ksar 'Akil may be even older. These artifacts provide some of the earliest evidence for traditions of personal ornament manufacture by Upper Paleolithic humans in western Asia, comparable in age to similar objects from Eastern Europe and Africa. The new data show that the initial appearance of Upper Paleolithic ornament technologies was essentially simultaneous on three continents. The early appearance and proliferation of ornament technologies appears to have been contingent on variable demographic or social conditions. PMID:11390976
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Varghese, George M; Janardhanan, Jeshina; Trowbridge, Paul; Peter, John V; Prakash, John A J; Sathyendra, Sowmya; Thomas, Kurien; David, Thambu S; Kavitha, M L; Abraham, Ooriapadickal C; Mathai, Dilip
2013-11-01
This study sought to document the clinical and laboratory manifestations, genetic variability, and outcomes of scrub typhus, an often severe infection caused by Orientia tsutsugamushi, in South India. Patients admitted to a large teaching hospital with IgM ELISA-confirmed scrub typhus were evaluated. Clinical examination with a thorough search for an eschar, laboratory testing, chest X-ray, and outcome were documented and analyzed. Additionally, a 410-bp region of the 56-kDa type-specific antigen gene of O. tsutsugamushi was sequenced and compared with isolates from other regions of Asia. Most of the 154 patients evaluated presented with fever and non-specific symptoms. An eschar was found in 86 (55%) patients. Mild hepatic involvement was seen in most, with other organ involvement including respiratory, cardiovascular, and renal. Multi-organ dysfunction was noted in 59 (38.3%), and the fatality rate was 7.8%. Hypotension requiring vasoactive agents was found to be an independent predictor of mortality (p<0.001). The phylogeny of 26 samples showed 17 (65%) clustering with the Kato-like group and eight (31%) with the Karp-like group. The presentation of scrub typhus can be variable, often non-specific, but with potentially severe multi-organ dysfunction. Prompt recognition is key to specific treatment and good outcomes. Further study of the circulating strains is essential for the development of a successful vaccine and sensitive point-of-care testing. Copyright © 2013 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.
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Kanj, Souha S; Kanafani, Zeina A; Shehab, Marwa; Sidani, Nisreen; Baban, Tania; Baltajian, Kedak; Dakdouki, Ghenwa K; Zaatari, Mohamad; Araj, George F; Wakim, Rima Hanna; Dbaibo, Ghassan; Matar, Ghassan M
2015-06-01
The objective of this study was to examine the epidemiology and the clinical manifestations of typhoid fever as well as the susceptibility and strain relatedness of Salmonella typhi isolates in Lebanon from 2006 to 2007. A total of 120 patients with typhoid fever were initially identified from various areas of the country based on positive culture results for S. typhi from blood, urine, stools, bone marrow and/or positive serology. Clinical, microbiological and molecular analysis was performed on cases with complete data available. These results indicated that drinking water was an unlikely mode of transmission of the infection. Despite increasing reports of antimicrobial resistance among S. typhi isolates, the vast majority of these isolates were susceptible to various antibiotic agents, including ampicillin, cephalosporins, quinolones, and trimethoprim/sulfamethoxazole. Molecular analysis of the isolates revealed a predominance of one single genotype with no variation in distribution across the geographical regions. Copyright © 2014 Ministry of Health, Saudi Arabia. Published by Elsevier Ltd. All rights reserved.
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Learn about the Hazardous Waste Electronic Manifest System (e-Manifest)
This webpage provides information on EPA's work toward developing a hazardous waste electronic manifest system. Information on the Hazardous Waste Electronic Manifest Establishment Act, progress on the project and frequent questions are available.
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El'chininov, N V
2009-01-01
The efficiency of a combined approach to the correction of clinical manifestations of non-specific distress syndrome was evaluated in patients with psychovegetative syndrome by comparing effects of phytoaeroionotherapy, graduated physical exercises, and soft tissue manual therapy in different combinations with simultaneous magnetopuncture therapy and without it. It was shown that above therapeutic modalities combined with magnetotherapy decreased the degree of asymmetry of both right and left heart meridians (by 60.5%) and interhemisphere asymmetry of blood flow in the system of internal carotid arteries (by 74.19%), reduced the tone of cerebral arterioles and veins (by 40.7% and 8.6% respectively), improved symptomes of depression and asthenia (by 23.2% and 63.9% respectively), increased mental performance quotient and activity indices (by 34.7% and 28.7% respectively). These changes were far less significant in the absence of by magnetopuncture therapy.
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Li, Jing; Leng, Xiaomei; Li, Zhijun; Ye, Zhizhong; Li, Caifeng; Li, Xiaofeng; Zhu, Ping; Wang, Zhengang; Zheng, Yi; Li, Xiangpei; Zhang, Miaojia; Tian, Xin-Ping; Li, Mengtao; Zhao, Jiuliang; Zhang, Feng-Chun; Zhao, Yan; Zeng, Xiaofeng
2014-01-01
We investigated the characteristics of Chinese SLE patients by analyzing the association between specific autoantibodies and clinical manifestations of 2104 SLE patients from registry data of CSTAR cohort. Significant (P<0.05) associations were found between anti-Sm antibody, anti-rRNP antibody, and malar rash; between anti-RNP antibody, anti-SSA antibody, and pulmonary arterial hypertension (PAH); between anti-SSB antibody and hematologic involvement; and between anti-dsDNA antibody and nephropathy. APL antibody was associated with hematologic involvement, interstitial lung disease, and a lower prevalence of oral ulcerations (P<0.05). Associations were also found between anti-dsDNA antibody and a lower prevalence of photosensitivity, and between anti-SSA antibody and a lower prevalence of nephropathy (P<0.05). Most of these findings were consistent with other studies in the literature but this study is the first report on the association between anti-SSA and a lower prevalence of nephropathy. The correlations of specific autoantibodies and clinical manifestations could provide clues for physicians to predict organ damages in SLE patients. We suggest that a thorough screening of autoantibodies should be carried out when the diagnosis of SLE is established, and repeated echocardiography annually in SLE patients with anti-RNP or anti-SSA antibody should be performed.
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Manifestations of Hypoxia in the Second and Third Trimester Placenta.
Parks, W Tony
2017-10-16
The placental pathologies that develop in the context of hypoxic insults to the fetus and placenta are termed maternal vascular malperfusion (MVM). On molecular analysis, these lesions primarily show evidence of oxidative damage, suggesting that they arise in the context of hypoxia-reperfusion injury. The earliest abnormalities are likely incomplete or absent remodeling of maternal spiral arteries (decidual arteriopathy). These vascular remodeling defects then lead to subsequent damage patterns, including accelerated villous maturation, distal villous hypoplasia, increased syncytial knots, villous infarction, retroplacental hemorrhage, and placental hypoplasia. MVM may occur in a surprisingly wide array of clinical disorders, but the relation between these clinical disorders and placental MVM is complex. It seems likely that these clinical disorders represent final common pathways for multiple etiologies, only some of which result in MVM. Birth Defects Research 109:1345-1357, 2017.© 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.
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LYMPHOBLASTOMAS IN CHILDHOOD—Cutaneous Manifestations
Nelson, Lawrence M.
1953-01-01
The lymphoblastomas occurring in childhood are divided for purposes of discussion into lymphocytoma cutis, mycosis fungoides, lymphosarcoma, Hodgkin's disease, and leukemia. The cutaneous lesions may be either specific (as a result of the infiltration of the skin with specific cells of the conditions) or toxic (non-specific). With the possible exception of mycosis fungoides, the cutaneous manifestations are not diagnostic. The final diagnosis depends upon microscopic examination of the specific tissue involved and the coordination of the clinical and microscopic findings. PMID:13032796
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Chemical and archaeological evidence for the earliest cacao beverages.
Henderson, John S; Joyce, Rosemary A; Hall, Gretchen R; Hurst, W Jeffrey; McGovern, Patrick E
2007-11-27
Chemical analyses of residues extracted from pottery vessels from Puerto Escondido in what is now Honduras show that cacao beverages were being made there before 1000 B.C., extending the confirmed use of cacao back at least 500 years. The famous chocolate beverage served on special occasions in later times in Mesoamerica, especially by elites, was made from cacao seeds. The earliest cacao beverages consumed at Puerto Escondido were likely produced by fermenting the sweet pulp surrounding the seeds.
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Earliest evidence for commensal processes of cat domestication.
Hu, Yaowu; Hu, Songmei; Wang, Weilin; Wu, Xiaohong; Marshall, Fiona B; Chen, Xianglong; Hou, Liangliang; Wang, Changsui
2014-01-07
Domestic cats are one of the most popular pets globally, but the process of their domestication is not well understood. Near Eastern wildcats are thought to have been attracted to food sources in early agricultural settlements, following a commensal pathway to domestication. Early evidence for close human-cat relationships comes from a wildcat interred near a human on Cyprus ca. 9,500 y ago, but the earliest domestic cats are known only from Egyptian art dating to 4,000 y ago. Evidence is lacking from the key period of cat domestication 9,500-4,000 y ago. We report on the presence of cats directly dated between 5560-5280 cal B.P. in the early agricultural village of Quanhucun in Shaanxi, China. These cats were outside the wild range of Near Eastern wildcats and biometrically smaller, but within the size-range of domestic cats. The δ(13)C and δ(15)N values of human and animal bone collagen revealed substantial consumption of millet-based foods by humans, rodents, and cats. Ceramic storage containers designed to exclude rodents indicated a threat to stored grain in Yangshao villages. Taken together, isotopic and archaeological data demonstrate that cats were advantageous for ancient farmers. Isotopic data also show that one cat ate less meat and consumed more millet-based foods than expected, indicating that it scavenged among or was fed by people. This study offers fresh perspectives on cat domestication, providing the earliest known evidence for commensal relationships between people and cats.
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Earliest evidence for commensal processes of cat domestication
Hu, Yaowu; Hu, Songmei; Wang, Weilin; Wu, Xiaohong; Marshall, Fiona B.; Chen, Xianglong; Hou, Liangliang; Wang, Changsui
2014-01-01
Domestic cats are one of the most popular pets globally, but the process of their domestication is not well understood. Near Eastern wildcats are thought to have been attracted to food sources in early agricultural settlements, following a commensal pathway to domestication. Early evidence for close human–cat relationships comes from a wildcat interred near a human on Cyprus ca. 9,500 y ago, but the earliest domestic cats are known only from Egyptian art dating to 4,000 y ago. Evidence is lacking from the key period of cat domestication 9,500–4,000 y ago. We report on the presence of cats directly dated between 5560–5280 cal B.P. in the early agricultural village of Quanhucun in Shaanxi, China. These cats were outside the wild range of Near Eastern wildcats and biometrically smaller, but within the size-range of domestic cats. The δ13C and δ15N values of human and animal bone collagen revealed substantial consumption of millet-based foods by humans, rodents, and cats. Ceramic storage containers designed to exclude rodents indicated a threat to stored grain in Yangshao villages. Taken together, isotopic and archaeological data demonstrate that cats were advantageous for ancient farmers. Isotopic data also show that one cat ate less meat and consumed more millet-based foods than expected, indicating that it scavenged among or was fed by people. This study offers fresh perspectives on cat domestication, providing the earliest known evidence for commensal relationships between people and cats. PMID:24344279
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[Neurological manifestations of Behçet's disease].
Noel, N; Drier, A; Wechsler, B; Piette, J-C; De Paz, R; Dormont, D; Cacoub, P; Saadoun, D
2014-02-01
Neurological manifestations of Behçet's disease (BD) occur in 5.3 to more than 50% of patients. They are divided into two major forms: "parenchymal" lesions, which include mainly meningoencephalitis as opposed to "extra-parenchymal" lesions (i.e. cerebral venous thrombosis and arterial aneurysms). Myelitis or peripheral neuropathy is exceptional. The neuro-Behçet syndrome (NBS) should be considered in the setting of neurological manifestations, particularly headache and pyramidal signs, in a young man diagnosed with BD. However, its recognition may be difficult when neurological manifestations are the presenting features of BD (one third of cases), and requires a thorough knowledge of clinical manifestations and morphological lesions. Thus, parenchymal NB lesions classically exhibit inflammatory characteristics on MRI and are located at the meso-diencephalic junction and in the brainstem, rarely with a supratentorial extension. Meningitis is not systematically associated, and may be absent in about 30% of cases. The pathogenesis of these lesions is incompletely understood, but inflammatory infiltrates include mainly neutrophils and activated T cells (mainly Th17). Differential diagnoses include infectious diseases (herpes, listeria, tuberculosis), and inflammatory diseases (i.e. multiple sclerosis and sarcoidosis). A prompt recognition of NBS should lead to initiate adequate therapies in order to limit the risk of sequelae, relapses or death. Copyright © 2013. Published by Elsevier SAS.
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Atypical manifestations of Epstein-Barr virus in children: a diagnostic challenge.
Bolis, Vasileios; Karadedos, Christos; Chiotis, Ioannis; Chaliasos, Nikolaos; Tsabouri, Sophia
2016-01-01
Clarify the frequency and the pathophysiological mechanisms of the rare manifestations of Epstein-Barr virus infection. Original research studies published in English between 1985 and 2015 were selected through a computer-assisted literature search (PubMed and Scopus). Computer searches used combinations of key words relating to "EBV infections" and "atypical manifestation." Epstein-Barr virus is a herpes virus responsible for a lifelong latent infection in almost every adult. The primary infection concerns mostly children and presents with the clinical syndrome of infectious mononucleosis. However, Epstein-Barr virus infection may exhibit numerous rare, atypical and threatening manifestations. It may cause secondary infections and various complications of the respiratory, cardiovascular, genitourinary, gastrointestinal, and nervous systems. Epstein-Barr virus also plays a significant role in pathogenesis of autoimmune diseases, allergies, and neoplasms, with Burkitt lymphoma as the main representative of the latter. The mechanisms of these manifestations are still unresolved. Therefore, the main suggestions are direct viral invasion and chronic immune response due to the reactivation of the latent state of the virus, or even various DNA mutations. Physicians should be cautious about uncommon presentations of the viral infection and consider EBV as a causative agent when they encounter similar clinical pictures. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.
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[Clinical characteristics of lipid aspiration pneumonia in 16 children].
Ge, Lisha; Chen, Sihu; Lin, Miaomiao; Xia, Xiaojiao; Jin, Yimei; He, Shijun
2014-03-01
To investigate clinical characteristics and changes of pulmonary imaging of mineral oil aspiration pneumonia in children. The clinical features, CT findings, and effects of corticosteroid therapy were analyzed in 16 children with mineral oil aspiration pneumonia, who were hospitalized in our hospital from January 2003 to July 2013. All patients with mineral oil aspiration pneumonia had a history of mineral oil administration.Four patients had no clinical manifestations. Ten cases presented fever, and 8 of the 10 patients had fever in 4-8 h after taking mineral oil, and the temperature was between 39-40 °C. There were wheezing in 2 cases, shortness of breath in 6 cases, cyanosis in 1 case, dyspnea in 3 cases, and moaning in 2 cases, chest pain in 1 case, headache and abnormal EEG in 1 case.Six patients had rales in lungs. Peripheral blood white cells increased in 10 cases, and C- reactive protein elevated in 7 patients. Chest CT examination showed abnormal findings in 6 children, and the earliest CT was performed within 2 h after the accident. The rest 10 children got chest X-ray, and 9 of 10 children had abnormal findings. The earliest X-ray was done within 3 h after the accident. And the remaining 1 of 10 children showed no significant changes in the first chest X-ray 2-3 h after the accident until 3 days. All of the patients received corticosteroid and antibiotic treatments, 4 cases underwent bronchoalveolar lavage, 3 patients were given albumin, 6 cases received intravenous immunoglobulin. Three cases delayed in treatment with hormone because of misdiagnosis, and 2 of them had clearly secondary infections. Twelve patients recovered completely from oil aspiration pneumonia after 8 days to 5.5 months. Oil aspiration pneumonia in children occurs in almost all cases after mineral oil aspiration. Pulmonary opacities can be found by chest CT in most patients within 24 hours after mineral oil aspiration. Corticosteroids therapy was effective for patients with
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Vodzak, Jennifer; Queenan, Anne Marie; Souder, Emily; Evangelista, Alan T; Long, Sarah S
2017-01-01
Bordetella pertussis strains lacking expression of pertactin, a bacterial adhesin and vaccine target, are emerging. There are limited data on disease manifestations of mutant strains in children. We sought to compare clinical manifestations of pertactin-deficient and pertactin-producing B. pertussis infection in infants and describe corresponding molecular characteristics. Molecular characterization of archived B. pertussis isolates (collected January 2007 to March 2014) included Western blot analysis, pulsed-field gel electrophoresis (PFGE), polymerase chain reaction, and pertactin gene sequencing. Medical record review compared epidemiologic and clinical courses of pertactin-producing and pertactin-deficient B. pertussis infections. Sixty of 72 B. pertussis isolates were viable for analysis. Within the cohort of infants, the median age was 95 days, 90% received ≤1 dose of vaccine, and 72% were hospitalized. Pertactin deficiency was first noted in 2008, and its prevalence increased over time (68% overall prevalence). There were no statistically significant differences in presenting symptoms or signs, hospitalization, intensive care, respiratory support, or laboratory results related to pertactin expression. Illness length was shorter in pertactin-deficient group (mean difference, 3.2 days; P = .04); no difference was noted in the subgroup of infants <4 months old. Molecular analyses identified 11 PFGE profiles (Centers for Disease Control and Prevention profile No. 002 predominant, 47%). In 41 pertactin-deficient strains, sequencing identified 2 stop codon and 3 IS481 locations disrupting the prn gene. Mutations and nucleotide positions were not unique to PFGE type, nor were they clustered in time. In this cohort of predominantly unimmunized infants, clinical disease did not differ between infection with pertactin-deficient and those with pertactin-producing B. pertussis. Molecular analyses demonstrated remarkable PFGE strain diversity, with multiple
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Allen, L E; Cosgrave, E M; Kersey, J P; Ramaswami, U
2010-12-01
Fabry disease is an X linked lysosomal disorder associated with severe multiorgan failure and premature death. This study aims to determine the prevalence of ophthalmic manifestations in children with the condition and investigate the correlation with genotype and systemic disease severity. The records of 26 children from 18 pedigrees with Fabry disease undergoing regular ophthalmic and systemic examination were reviewed. All pedigrees underwent GLA gene sequencing to determine genotype. Correlations between ocular and systemic phenotype and genotype were investigated. Corneal verticillata occurred in 50% of the children in this study (95% CI, 29% to 79%). Children with ophthalmic manifestations were more likely to have loss-of-function GLA mutations (p=0.003). Retinal vascular tortuosity was seen in seven children (27%), all of whom had systemic symptoms suggestive of autonomic neuropathy, such as diarrhoea and syncope. These symptoms seemed less prevalent in children without retinal vascular changes, although this did not reach statistical significance (p=0.134). Ophthalmic manifestations of Fabry disease are common even in young children with loss-of-function GLA gene mutations. Although the limited sample size possibly prevented statistical significance, systemic symptoms of autonomic neuropathy often coexist with retinal vascular changes and may share the same pathogenesis.
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Incidence, Prevalence and Clinical Manifestations of Systemic Sclerosis in Dukagjini Plain
Bajraktari, Ismet H.; Berisha, Idriz; Berisha, Merita; Saiti, Valton; Bajraktari, Halit
2013-01-01
Introduction: Progressive systemic sclerosis (PSS) is an inflammatory disease of connective tissue, with onset as edema that continues with fibrosis, induration, and skin atrophy, followed by attacks on the joints, internal organs, and secondary proliferation of connective tissue. Purpose: To research in which residence locations and among which group age is the most frequent incidence, prevalence and clinical manifestations of systemic sclerosis in Dukagjini Plain which is inhabited by 698450 resident citizens. Material and methods: 51 patients with progressive systemic sclerosis were studied, out them 44 were females (86.3%) and 7 males (13.7%) respectively, during the period from 2005 to 2010. Their illness was active from 18 to 60 months in accordance with EUSTAR criteria. They are of different age, median age is 44.2 ±10.1. Their diagnose is determined based on revised ACR criteria. Prevalence of patients with PSS was 14.61/100.000, while the incidence was 2.8/100.000, whereas CI (Confidence interval) or limit of accuracy was 95%. Results: Largest number of patients per 100.000 citizens has Istog municipality which has the largest number of patients with PSS. It is followed by Mamusha and Rahovec municipalities. The largest examined group age is 35-44 year old, 41.2% respectively. Conclusion: Additional studies are necessary to carry out in order to find the reasons of asymmetrical distribution of patients with systemic sclerosis in the municipalities of Dukagjini Plain. PMID:23678335
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Chemical and archaeological evidence for the earliest cacao beverages
Henderson, John S.; Joyce, Rosemary A.; Hall, Gretchen R.; Hurst, W. Jeffrey; McGovern, Patrick E.
2007-01-01
Chemical analyses of residues extracted from pottery vessels from Puerto Escondido in what is now Honduras show that cacao beverages were being made there before 1000 B.C., extending the confirmed use of cacao back at least 500 years. The famous chocolate beverage served on special occasions in later times in Mesoamerica, especially by elites, was made from cacao seeds. The earliest cacao beverages consumed at Puerto Escondido were likely produced by fermenting the sweet pulp surrounding the seeds. PMID:18024588
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[Otorhinolaryngological manifestations in patients with Behçet disease].
Morales-Angulo, Carmelo; Vergara Pastrana, Sandra; Obeso-Agüera, Sergio; Acle, Leticia; González-Gay, Miguel Ángel
2014-01-01
Behçet disease (BD) is a systemic immune-mediated vasculitis of unknown origin characterised by recurrent orogenital ulceration, ocular inflammation and skin lesions. The aim of our study was to identify ear, nose and throat (ENT) manifestations associated with BD. Retrospective review of the medical records of all patients diagnosed with BD who attended a tertiary public hospital in Cantabria (Spain) over a period of 22 years. Clinical manifestations, in particular those concerning ENT, were retrieved from medical records. A medical literature review of ENT manifestations was conducted. Thirty-three patients (age range: 17-64 years) were included in the study. Most of them presented oral ulcers (97%). Eight patients (24%) presented oropharyngeal ulcers and 5 patients (15%) experienced audiovestibular symptoms (high frequency sensorineural hearing loss, vertigo and bilateral vestibular hypofunction). One patient had symptoms compatible with vestibular neuronitis as the presentation manifestation of Neuro-Behçet. In 4 patients (12%) the presence of odynophagia secondary to the presence of oropharyngeal lesions, initially interpreted as acute or recurrent tonsillitis, was the first manifestation of the disease, alone or associated with cutaneous or ocular lesions. In addition to the characteristic oral ulcers present in most patients with BD, ulcers in the oropharynx, occasionally interpreted as acute pharyngitis, are also common in these patients. Audiovestibular manifestations frequently appear during the course of the disease and may be the first symptom of central nervous system involvement. Copyright © 2013 Elsevier España, S.L. All rights reserved.
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Gathering Together: A View of the Earliest Student Affairs Professional Organizations
ERIC Educational Resources Information Center
Gerda, Janice J.
2006-01-01
In November 1903, 18 women gathered together for the Conference of Deans of Women of the Middle West. Variations of this conference were held over the following 20 years, constituting the earliest period of professional association in what was to become known as student affairs. When creating their associations, the early deans needed to consider…
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Stone, Donald U.; Fife, Dustin; Brown, Michael; Earley, Keith E.; Radfar, Lida; Kaufman, C. Erick; Lewis, David M.; Rhodus, Nelson L.; Segal, Barbara M.; Wallace, Daniel J.; Weisman, Michael H.; Venuturupalli, Swamy; Brennan, Michael T.; Lessard, Christopher J.; Montgomery, Courtney G.; Scofield, R. Hal; Sivils, Kathy L.
2017-01-01
Objectives To assess the association of smoking habits with the clinical, serological, and histopathological manifestations of Sjögren’s syndrome (SS) and non-Sjögren’s sicca (non-SS sicca). Methods Cross-sectional case-control study of 1288 patients with sicca symptoms (587 SS and 701 non-SS sicca) evaluated in a multi-disciplinary research clinic. Smoking patterns were obtained from questionnaire data and disease-related clinical and laboratory data were compared between current, past, ever, and never smokers. Results Current smoking rates were 4.6% for SS patients compared to 14.1% in non-SS sicca (p = 5.17x10E-09), 18% in a local lupus cohort (p = 1.13x10E-14) and 16.8% in the community (p = 4.12x10E-15). Current smoking was protective against SS classification (OR 0.35, 95%CI 0.22–0.56, FDR q = 1.9E10-05), focal lymphocytic sialadenitis (OR 0.26, 95%CI 0.15–0.44, FDR q = 1.52x10E-06), focus score ≥1 (OR 0.22, 95%CI 0.13–0.39, FDR q = 1.43x10E-07), and anti-Ro/SSA(+) (OR 0.36, 95%CI 0.2–0.64, FDR q = 0.0009); ever smoking was protective against the same features and against anti-La/SSB(+) (OR 0.52, 95%CI 0.39–0.70, FDR q = 5.82x10E-05). Duration of smoking was inversely correlated with SS even after controlling for socioeconomic status, BMI, alcohol and caffeine consumption. Conclusions Current tobacco smoking is negatively and independently associated with SS, protecting against disease-associated humoral and cellular autoimmunity. The overall smoking rate amongst SS patients is significantly lower than in matched populations and the effects of smoking are proportional to exposure duration. In spite of the protective effects of tobacco on SS manifestations, it is associated with other serious comorbidities such as lung disease, cardiovascular risk and malignancy, and should thus be strongly discouraged in patients with sicca. PMID:28166540
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Succinate-based preparation alleviates manifestations of the climacteric syndrome in women.
Peskov, A B; Maevskii, E I; Uchitel', M L; Sakharova, N Yu; Vize-Khripunova, M A
2005-09-01
Clinical placebo-controlled study of Enerlit-Clima (bioactive succinate-based food additive) a showed positive effect of the preparation on general clinical and psychoemotional manifestations of the climacteric syndrome. A trend to an increase in estradiol level in early pathological climacteric and normalization of the endometrial status were observed.
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Oral manifestations of Diabetes Mellitus. A systematic review
Mauri-Obradors, Elisabet; Estrugo-Devesa, Albert; Jané-Salas, Enric; Viñas, Miguel
2017-01-01
Background Diabetes Mellitus has become a global epidemic and presents many complications, usually proportional to the degree and duration of hyperglycemia. The aim of this systematic review was to investigate the different oral manifestations associated with Diabetes Mellitus. Material and Methods A MEDLINE search for “Diabetes Mellitus and oral manifestations” was performed. A further search was conducted for “diabetes” and its individual oral manifestation. Inclusion criteria were as follows: human clinical studies with a minimum of 30 patients; studies published in relevant scientific journals between January 1998 and January 2016. Nineteen studies fulfilled the inclusion criteria and were analyzed, assessing the strength of scientific evidence according to recommendations made by the Centre for Evidence-Based Medicine, Oxford (OCEBM), which permits adequate assessment of prevalence studies. Results A total 3,712 patients (2,084 diabetics) were included in the studies reviewed. Of the 19 studies analyzed, 4 were longitudinal studies and 15 cross-sectional studies. Periodontal disease, periapical lesions, xerostomia and taste disturbance were more prevalent among diabetic patients. An association between diabetes and caries and mucosal lesions proved positive in 5 out of 10 studies. Conclusions Despite multiple oral manifestations associated with DM, awareness of the associations between diabetes, oral health, and general health is inadequate. It is necessary for doctors and dentists to be aware of the various oral manifestations of diabetes in order to make an early diagnosis. Key words:Diabetes Mellitus, oral manifestations, oral pathology. PMID:28809366
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Majumdar, Kunal K; Sundarraj, Shunmuga N
2013-01-01
Excessive fluoride in drinking water causes dental, skeletal and non-skeletal fluorosis which is encountered in endemic proportions in several parts of the world. The World Health Organization (WHO) guideline value and the permissible limit of fluoride as per the Bureau of Indian Standards (BIS) is 1.5 mg/L. Studies showed that withdrawal of sources identified for fluoride, often leads to reduction of fluoride in the body fluids (re-testing urine and serum after a week or ten days) and results in the disappearance of non-skeletal fluorosis within a short duration of 10-15 days. To determine the prevalence of signs and symptoms of suspected dental, skeletal and non-skeletal fluorosis along with food habits, addictions and use of fluoride-containing toothpaste among participants taking water with fluoride concentration above permissible limit and to assess the changes in clinical manifestations of the above participants after consumption of safe drinking water with fluoride concentration below permissible limit. A longitudinal intervention study was conducted from October 2010 to December 2011 in a village selected randomly in Purulia District of West Bengal which is endemic for fluorosis. Thirty-six families with 104 family members in the above village having history of taking unsafe water containing high level of fluoride were selected for the study. The occurrence of various dental, skeletal and non-skeletal manifestations of fluorosis along with food habits, addictions and use of fluoride-containing toothpaste among the study population was assessed; the impact of taking safe water with fluoride concentration below permissible limit from a supplied community filter on these clinical manifestations was studied by follow-up examination of the above participants for six months. The data obtained is compared with the collected data from the baseline survey. The prevalence of signs and symptoms of dental, skeletal and non-skeletal fluorosis was (18.26%), (18
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[Atypical manifestations in familial type 1 Waardenburg syndrome].
Sans, B; Calvas, P; Bazex, J
1998-01-01
Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively). We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading. This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome.
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Zika Virus: Cutaneous Manifestations in 3 Patients.
Cosano-Quero, A; Velasco-Tirado, V; Sánchez Seco, M P; Manzanedo-Bueno, L; Belhassen-García, M
2018-04-01
Zika virus infection should be suspected in travelers or immigrants with the signs or symptoms of a viral infection (rash, fever, joint pains, conjunctivitis, headache, etc.) and a compatible epidemiological history. Although cutaneous manifestations are among the most common clinical signs of Zika, they are not specific and very few images are available. We present 3 patients (2 travelers and 1 immigrant) in whom a rash was the presenting manifestation of Zika virus infection. Prompt diagnosis optimizes outcomes in these patients, improves the management of severe disease, and minimizes the risk of local transmission by Aedes albopictus, now a potential local vector for the virus due to its presence in areas along Spain's Mediterranean coast. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.
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Hyperthyroidism as a clinical manifestation of a embryonal carcinoma of the testis.
Arrabal-Polo, M A; Jimenez-Pacheco, A; Arrabal-Martin, M; Moreno-Jimenez, J; Gutierrez-Tejero, F; Galisteo-Moya, R; Zuluaga-Gomez, A
2012-01-01
This case report describes a case of hyperthyroidism as manifestation of an embryonal carcinoma, and illustrates the causes that led to it. The case describes a 33-year-old male patient who complained of chest pain, palpitations, mild dyspnoea, and weight loss. Blood analysis reveals high levels of human chorionic gonadotropin (833818 mlU/ml), T3 (16.90 pg/ml), and T4 (7.77 ng/dl), as well as a fall of TSH (0.01 ulU/ml). Physical examination and imaging procedures confirm the occurrence of a left testicular tumour associated with numerous lung, hepatic and retroperitoneal metastases. Treatment with carbimazol and propanolol is established to manage hyperthyroidism, and an urgent orchiectomy is performed; the histologic diagnosis confirms an embryonal carcinoma (organoid type), but the patient died unexpectedly 24 hours later after having suffered sudden dyspnoea, tachypnoea, and tachyarrhythmia. Hyperthyroidism is a rare manifestation of a testicular tumour that should be borne in mind with regard to the patient's symptomatology and HCG levels.
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Magalhães, Patrícia Künzle Ribeiro; Antonini, Sonir Roberto Rauber; de Paula, Francisco José Albuquerque; de Freitas, Luiz Carlos Conti; Maciel, Léa Maria Zanini
2011-05-01
Primary hyperparathyroidism occurs in only 10%-30% of patients with multiple endocrine neoplasia type 2A (MEN2A), rarely as the sole clinical manifestation, and is usually diagnosed after the third decade of life. A 5-year-old girl was referred for prophylactic thyroidectomy as she carried the p.C634R RET mutation. She was clinically asymptomatic, with a normally palpable thyroid and with the cervical region free of lymphadenopathy or other nodules. Preoperative tests revealed hypercalcemia associated with elevation of parathyroid hormone (PTH) (calcium = 11.2 mg/dL, calcium ion = 1.48 mmol/L, phosphorus = 4.0 mg/dL, alkaline phosphatase = 625 U/L, parathyroid hormone (PTH) PTH = 998 pg/mL). A thyroid ultrasound was normal and parathyroid scintigraphy with (99m)Tc-Sestamibi revealed an area of radioconcentration in the upper half of the left thyroid lobe suggesting hyperfunctioning parathyroid tissue. She underwent total thyroidectomy and parathyroidectomy and developed hypocalcemia. The anatomopathological examination showed no histopathological changes in the thyroid tissue and an adenoma of the parathyroid gland, confirming the diagnosis of hyperparathyroidism. Primary hyperparathyroidism can be a precocious manifestation of MEN2A. This case report highlights that asymptomatic hypercalcemia should be scrutinized in children related to patients with MEN2A who carry a mutation in the RET proto-oncogene, especially mutations in the codon 634, before the currently recommended age of 8 years.
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Mast cell heterogeneity underlies different manifestations of food allergy in mice
Benedé, Sara
2018-01-01
Food can trigger a diverse array of symptoms in food allergic individuals from isolated local symptoms affecting skin or gut to multi-system severe reactions (systemic anaphylaxis). Although we know that gastrointestinal and systemic manifestations of food allergy are mediated by tissue mast cells (MCs), it is not clear why allergen exposure by the oral route can result in such distinct clinical manifestations. Our aim was to assess the contribution of mast cell subsets to different manifestations of food allergy. We used two common models of IgE-mediated food allergy, one resulting in systemic anaphylaxis and the other resulting in acute gastrointestinal symptoms, to study the immune basis of allergic reactions. We used responders and non-responders in each model system, as well as naïve controls to identify the association of mast cell activation with clinical reactivity rather than sensitization. Systemic anaphylaxis was uniquely associated with activation of connective tissue mast cells (identified by release of mouse mast cell protease (MMCP) -7 into the serum) and release of histamine, while activation of mucosal mast cells (identified by release of MMCP-1 in the serum) did not correlate with symptoms. Gastrointestinal manifestations of food allergy were associated with an increase of MMCP-1-expressing mast cells in the intestine, and evidence of both mucosal and connective tissue mast cell activation. The data presented in this paper demonstrates that mast cell heterogeneity is an important contributor to manifestations of food allergy, and identifies the connective tissue mast cell subset as key in the development of severe systemic anaphylaxis. PMID:29370173
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Fazeli Farsani, Soulmaz; Souverein, Patrick C.; van der Vorst, Marja M. J.; Mantel-Teeuwisse, Aukje K.; Knibbe, Catherijne A. J.; de Boer, Anthonius
2014-01-01
Background There is a highly variable asymptomatic period of beta cell destruction prior to the clinical presentation of type1 diabetes. It is not well known what triggers type 1 diabetes to become a clinically overt disease. This explorative study aimed to identify the association between disease history/medication use and the clinical manifestation of type 1 diabetes. Methodology/Principal Findings An explorative case control study was conducted in the Dutch PHARMO Record Linkage System. Cases (n = 1,107) were younger than 25 years and had at least 2 insulin prescriptions between 1999 and 2009. For each case, up to 4 controls (without any prescription for the glucose lowering medications (n = 4,424)) were matched by age and sex. Conditional logistic regression analysis was used to evaluate the association between disease history/medication use in the year prior to the diagnosis of type1 diabetes and clinical manifestation of this disease. Type1 diabetes was significantly associated with a history of mental disorder (odds ratio (OR) 8.0, 95% confidence interval (CI) 1.5–43.7), anemia (OR 5.1, 95% CI 1.1–22.9), and disease of digestive system (OR 2.6, 95% CI 1.2–5.5). The following drug exposures were significantly associated with the clinical manifestation of type 1 diabetes: “systemic hormonal preparations” (OR 1.7, 95% CI 1.1–2.6), medications for “blood and blood forming organs” (OR 1.6, 95% CI 1.1–2.6), “alimentary tract and metabolism” (OR 1.3, 95% CI 1.1–1.6), and “anti-infectives for systemic use” (OR 1.2, 95% CI 1.01–1.4). Conclusions Our explorative study demonstrated that in the year prior to the presentation of type1 diabetes in children and young adults, hospitalization for a diverse group of diseases and drug exposures were significantly more prevalent compared with age- and sex-matched diabetes-free controls. PMID:24498320
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[Manifestation of first branchial anomaly:56 cases reportrhinitis].
Zhang, B; Chen, L S; Huang, S L; Liang, L; Wu, P N; Zhang, S Y; L, Z M; Liang, L
2016-09-05
Objective: To sum up and conclude manifestation of congenital first branchial anomaly(CFBCA). Method: The clinical data of 56 patients from 2005 to 2015 in our hospital were retrospective reviewed. Result: Manifestation:mass without pain(26.8%),repeated sore and discharge(71.4%),otological symptom(external auditory discharge､hearing loss,28.6%).Eleven cases bacterial sample showed positive result,and most of them show pseudomonas aeruginosa and staphylococcus aureus.Auricular endoscopy typically performed stricture of external auditory canal,cholesteatoma samples accumulated in ear canal,fistula at the conjunction of the bone and cartilage and tympanic membranous attachment.Typical performance of CT(MRI)was that there were cystic,lobulated or tubular abnormal shadow related with ear canal in Pochet's triangle area whose cyst wall or pipe wall could been enhanced in enhanced CT(MRI) scans,and part of that could be connected with skin.The statistical difference between type Oslen and Work and clinical characteristics( P <0.01),and the relationship between type Oslen and Work( P <0.01).Most of Work Ⅰ were cyst type,and these two type often had no infected symptom.Most of them were young patients.Most of Work Ⅱ were sinus and fistula type ,and these two type often had infected symptom.Most of them were teenagers.Part of patients of type Work Ⅱ showed tympanic membranous attachment. Conclusion: CFBCA was rare,and it is more common in young patients and often in left part.It always performed as mass without pain､repeated sore and discharge､external auditory discharge.Most of Work Ⅰ were cyst type,and these two type often had no infected symptom and most of them were young patients .Most of Work Ⅱ were sinus and fistula type,and these two type often had infected symptom and most of them were teenagers.Auricular endoscopy,CT,MRI could help make diagnose.Doctors clinical need to differentiate it with related diseases according to different manifestations
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Clinical Computer Applications in Mental Health
Greist, John H.; Klein, Marjorie H.; Erdman, Harold P.; Jefferson, James W.
1982-01-01
Direct patient-computer interviews were among the earliest applications of computing in medicine. Yet patient interviewing and other clinical applications have lagged behind fiscal/administrative uses. Several reasons for delays in the development and implementation of clinical computing programs and their resolution are discussed. Patient interviewing, clinician consultation and other applications of clinical computing in mental health are reviewed.
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Archaeometallurgical characterization of the earliest European metal helmets
Mödlinger, Marianne; Piccardo, Paolo; Kasztovszky, Zsolt; Kovács, Imre; Szőkefalvi-Nagy, Zoltán; Káli, György; Szilágyi, Veronika
2013-01-01
Archaeometric analyses on conical and decorated cap helmets from the Bronze Age are presented. The helmets are dated to the 14–12th century BC according to associated finds in hoards. Alloy composition, material structure and manufacturing processes are determined and shed light on the earliest development of weaponry production in Central and Eastern Europe. Analyses were carried out using light and dark field microscopy, SEM–EDXS, PIXE, TOF-ND and PGAA. The results allowed reconstructing the manufacturing process, the differences between the cap of the helmets and their knobs (i.e. alloy composition) and the joining technique of the two parts. PMID:26523114
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History, Epidemiology, and Clinical Manifestations of Zika: A Systematic Review
Barreto, Florisneide; da Glória Teixeira, Maria; da Conceição N. Costa, Maria; Rodrigues, Laura C.
2016-01-01
Objectives. To describe salient epidemiological characteristics of Zika virus outbreaks across the world and to examine the clinical presentations, complications, and atypical manifestations related to their occurrence in recent history. Methods. We conducted a systematic review of the literature by searching through MEDLINE, Embase, and Global Health Library, as well as the epidemiological bulletins and alerts from the World Health Organization, the Pan American Health Organization, and the European Centre for Disease Prevention and Control over the period 1954 to 2016. Results. The search yielded 547 records. We retained 333 for further analysis, to which we added 11 epidemiological bulletins from various sources. Of these, we systematically reviewed 52 articles and reports, revealing some epidemiological features and patterns of spread of the Zika virus worldwide, as well as pathological outcomes suspected to be linked to Zika outbreaks. Neurologic disorders among zika patients were similar in Brazil and French Polynesia but a causal link is not established. Incidence of zika infection in pregnant women is not known. In Brazil, during the zika outbreak the incidence of microcephaly increased more than 20 times. Among 35 infants with microcephaly, born from women suspected to have Zika infection during pregnancy in northeast Brazil, 74% of the mothers reported rash during the first and second trimester. Conclusions. On February 1, 2016, The World Health Organization declared the ongoing Zika crisis an emergency and that, although not yet scientifically proven, the link between the virus and growing numbers of microcephaly cases was “strongly suspected.” However, the causal relationship between zika and microcephaly is not universally accepted. Public Health Implications. The current situation with regard to Zika is not encouraging, because there is no vaccine, no treatment, and no good serological test, and vector control remains a challenge. PMID:26959260
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Cytomegalovirus in pediatric systemic lupus erythematosus: prevalence and clinical manifestations.
Rozenblyum, E V; Levy, D M; Allen, U; Harvey, E; Hebert, D; Silverman, E D
2015-06-01
Cytomegalovirus (CMV) is a beta-herpesvirus and antibodies to this virus are common in patients with systemic lupus erythematosus (SLE). However, few studies have examined the relationship between CMV infection and SLE. Our objectives were: 1) to determine the prevalence of CMV infection at the time of SLE diagnosis, and 2) to determine the risk factors for CMV infection. A database review of 670 patients with pediatric SLE (pSLE) seen over a 20-year period identified seven patients with a CMV infection detected at the time of diagnosis of SLE. CMV was diagnosed by serology, urine and bronchoalveolar lavage. Clinical manifestations, laboratory findings, virology studies and treatments were reviewed. CMV infection was detected in seven patients at the time of SLE diagnosis (1.04% of total cohort): six were female: mean age was 13 years. Predominant features included non-Caucasian ethnicity (p < 0.01 as compared to total SLE cohort), persistent fevers on prednisone in seven and nephrotic syndrome in four. Laboratory findings included: anemia in seven, lymphopenia in five, elevated liver enzymes in four, with anti-dsDNA and anti-RNP antibodies present in six and five, respectively. Six patients received ganciclovir and CMV hyperimmune globulin (Cytogam®) with the continuation of prednisone during CMV treatment. Six of seven fully recovered without sequelae (one without treatment) but one patient died with active CMV infection. There were 1.04% of patients with pSLE who developed CMV infection. All were of non-Caucasian ethnicity. Persistent fever despite prednisone, with concomitant anemia, may be additional clues to CMV infection in pSLE. We suggest all patients have routine testing for CMV immunity at initial presentation of pSLE. © The Author(s) 2015 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.
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Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening.
McLaren, Gordon D; McLaren, Christine E; Adams, Paul C; Barton, James C; Reboussin, David M; Gordeuk, Victor R; Acton, Ronald T; Harris, Emily L; Speechley, Mark R; Sholinsky, Phyliss; Dawkins, Fitzroy W; Snively, Beverly M; Vogt, Thomas M; Eckfeldt, John H
2008-11-01
Patients with hemochromatosis may suffer organ damage from iron overload, often with serious clinical consequences. To assess prevalences of self-reported symptoms and clinical signs and conditions in persons homozygous for the hemochromatosis gene (HFE) mutation (C282Y) identified by screening. Participants were adults 25 years of age or older enrolled in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. C282Y homozygotes (n=282) were compared with control participants without the HFE C282Y or H63D alleles (ie, wild type/wild type; n=364). Previously diagnosed C282Y homozygotes and newly diagnosed homozygotes with elevated serum ferritin levels had higher prevalences of certain symptoms such as chronic fatigue (OR 2.8; 95% CI 1.34 to 5.95, and OR 2.0; 95% CI 1.07 to 3.75, respectively), and had more hyperpigmentation on physical examination (OR 4.7; 95% CI 1.50 to 15.06, and OR 3.7; 95% CI 1.10 to 12.16, respectively) and swelling or tenderness of the second and third metacarpophalangeal joints (OR 4.2; 95% CI 1.37 to 13.03, and OR 3.3; 95% CI 1.17 to 9.49, respectively) than control subjects. Joint stiffness was also more common among newly diagnosed C282Y homozygotes with elevated serum ferritin than among control subjects (OR 2.7; 95% CI 1.38 to 5.30). However, the sex- and age-adjusted prevalences of self-reported symptoms and signs of liver disease, heart disease, diabetes and most other major clinical manifestations of hemochromatosis were similar in C282Y homozygotes and control subjects. Some symptoms and conditions associated with hemochromatosis were more prevalent among C282Y homozygotes identified by screening than among control subjects, but prevalences of most outcomes were similar in C282Y homozygotes and controls in this primary care-based study.
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Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening
McLaren, Gordon D; McLaren, Christine E; Adams, Paul C; Barton, James C; Reboussin, David M; Gordeuk, Victor R; Acton, Ronald T; Harris, Emily L; Speechley, Mark R; Sholinsky, Phyliss; Dawkins, Fitzroy W; Snively, Beverly M; Vogt, Thomas M; Eckfeldt, John H
2008-01-01
BACKGROUND: Patients with hemochromatosis may suffer organ damage from iron overload, often with serious clinical consequences. OBJECTIVE: To assess prevalences of self-reported symptoms and clinical signs and conditions in persons homozygous for the hemochromatosis gene (HFE) mutation (C282Y) identified by screening. METHODS: Participants were adults 25 years of age or older enrolled in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. C282Y homozygotes (n=282) were compared with control participants without the HFE C282Y or H63D alleles (ie, wild type/wild type; n=364). RESULTS: Previously diagnosed C282Y homozygotes and newly diagnosed homozygotes with elevated serum ferritin levels had higher prevalences of certain symptoms such as chronic fatigue (OR 2.8; 95% CI 1.34 to 5.95, and OR 2.0; 95% CI 1.07 to 3.75, respectively), and had more hyperpigmentation on physical examination (OR 4.7; 95% CI 1.50 to 15.06, and OR 3.7; 95% CI 1.10 to 12.16, respectively) and swelling or tenderness of the second and third metacarpophalangeal joints (OR 4.2; 95% CI 1.37 to 13.03, and OR 3.3; 95% CI 1.17 to 9.49, respectively) than control subjects. Joint stiffness was also more common among newly diagnosed C282Y homozygotes with elevated serum ferritin than among control subjects (OR 2.7; 95% CI 1.38 to 5.30). However, the sex- and age-adjusted prevalences of self-reported symptoms and signs of liver disease, heart disease, diabetes and most other major clinical manifestations of hemochromatosis were similar in C282Y homozygotes and control subjects. CONCLUSIONS: Some symptoms and conditions associated with hemochromatosis were more prevalent among C282Y homozygotes identified by screening than among control subjects, but prevalences of most outcomes were similar in C282Y homozygotes and controls in this primary care-based study. PMID:19018338
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Some views on the manifestation of the death instinct in clinical work.
Feldman, M
2000-02-01
The author argues that the postulation of the instinctual drive towards death can be seen as an attempt to account for the manifestation of a destructive psychological force that is palpably present in many of our patients. He discusses some of the experiences, activities and aims that reflect this destructive psychic force, and the conscious and unconscious gratification that is intrinsically bound up with it. What is 'deadly' is the way in which meaning, specificity and differences are attacked, and any developmental processes retarded or undermined. The vitality is taken out of the patient himself as well as his objects, and although in an important sense these drives are 'anti-life', the author suggests that their aim is not literally to kill or to annihilate, but that the patient feels compelled to maintain a link with the object that often has an evidently tormenting quality. Using a detailed clinical illustration, the author argues that the gratification that is bound up in these activities, and which gives them such a compulsive quality, does not result from fusion with the life instinct, with the resultant libidinisation of the death instinct. On the contrary, the gratification obtained from attacking, spoiling and undermining, whether directed to the self or the object, is an essential element of such a destructive drive.
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Seidel, Natan E; Arlen, Angela M; Smith, Edwin A; Kirsch, Andrew J
2015-01-01
To review the clinical manifestations and operative management of a large contemporary pediatric cohort of patients with prune-belly syndrome (PBS). PBS patients aged <21 years followed up in our pediatric urology clinic were identified by the International Classification of Diseases, Ninth Revision code (756.71). Demographics, concomitant diagnoses, surgical history, imaging studies, and renal or bladder function were evaluated. Data were available for 46 pediatric patients (44 boys and 2 girls). Mean age was 7.6 ± 4.7 years (range, 0.9-20 years). Average length of clinical follow-up was 6.8 ± 5 years. Forty-five children (97.8%) had hydroureteronephrosis, and 36 of them (78.3%) had vesicoureteral reflux. Five patients (10.9%) had significant pulmonary insufficiency, and 2 patients (4.3%) were oxygen dependent. Eighteen children (39.1%) had other congenital malformations, including cardiac in 4 patients (8.7%) and musculoskeletal anomalies in 10 patients (21.7%). Orchidopexy was the most common surgery, with all boys aged ≥3 years having undergone the procedure. Twenty-two patients (47.8%) had a history of ureteral surgery, 22 (47.8%) had bladder surgery, 11 (23.9%) had renal surgery, and 6 (13%) had urethral procedures. Nineteen patients (41.3%) underwent abdominoplasty. Eighteen children (39.1%) had documented chronic kidney disease, and 8 children (17.4%) underwent renal transplantation. Average age at transplantation was 5.1 ± 2.9 years. The mean nadir creatinine level for patients with end-stage renal disease was 1.4 mg/dL compared with 0.4 mg/dL for those not requiring transplantation (P <.001). Children with PBS have significant comorbidities and require frequent operative intervention, with disease heterogeneity necessitating an individualized management approach. Early end-stage renal disease is prevalent, with approximately 15% of children requiring kidney transplantation. Copyright © 2015 Elsevier Inc. All rights reserved.
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Fiskin, Gamze; Kaydirak, Meltem Mecdi; Oskay, Umran Yesiltepe
2017-02-01
High-risk pregnancy research has focused primarily on psychological well-being. The aim is to determine psychosocial adaptation and depression levels of pregnant women who were admitted to hospital with diagnosis of high-risk pregnancy. This study was descriptive. Sampling was composed of 122 high-risk pregnant women who were hospitalized in the perinatology service of Istanbul University Medical School, Department of Obstetrics and Gynecology between January 1, 2014, and May 31, 2014, and met the study criteria. The Pregnant Introduction Form, Psychosocial Adjustment of Illness Scale-Self Report, and CES Depression Scale were used. Of high-risk pregnant women, 47% were found to have a poor level of psychosocial adaptation and 57% presented with depressive symptoms. There were statistically significant difference found between the levels of psychosocial adaptation and status of depressive manifestations. The difference between the average scores increased as the adaptation levels weaken and the pregnant women with a poor level of psychosocial adaptation showed more depressive manifestations. The results of this study indicate that, depending on the high-risk pregnancy status, pregnant women experience difficulty in adaptation to their current status and pregnant women with a poor level of psychosocial adaptation showed more depressive manifestations. Nurses should deliver care in high-risk pregnancies with the awareness of physiological needs as well the psychosocial needs of pregnant women, and information meetings should be held in order to increase the psychosocial support of their families and decrease their tendency toward depression. Nursing initiatives should be developed with further studies for the psychosocial adaptation of high-risk pregnancy and reduction of the depressive manifestations. © 2016 Sigma Theta Tau International.
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The earliest modern humans outside Africa.
Hershkovitz, Israel; Weber, Gerhard W; Quam, Rolf; Duval, Mathieu; Grün, Rainer; Kinsley, Leslie; Ayalon, Avner; Bar-Matthews, Miryam; Valladas, Helene; Mercier, Norbert; Arsuaga, Juan Luis; Martinón-Torres, María; Bermúdez de Castro, José María; Fornai, Cinzia; Martín-Francés, Laura; Sarig, Rachel; May, Hila; Krenn, Viktoria A; Slon, Viviane; Rodríguez, Laura; García, Rebeca; Lorenzo, Carlos; Carretero, Jose Miguel; Frumkin, Amos; Shahack-Gross, Ruth; Bar-Yosef Mayer, Daniella E; Cui, Yaming; Wu, Xinzhi; Peled, Natan; Groman-Yaroslavski, Iris; Weissbrod, Lior; Yeshurun, Reuven; Tsatskin, Alexander; Zaidner, Yossi; Weinstein-Evron, Mina
2018-01-26
To date, the earliest modern human fossils found outside of Africa are dated to around 90,000 to 120,000 years ago at the Levantine sites of Skhul and Qafzeh. A maxilla and associated dentition recently discovered at Misliya Cave, Israel, was dated to 177,000 to 194,000 years ago, suggesting that members of the Homo sapiens clade left Africa earlier than previously thought. This finding changes our view on modern human dispersal and is consistent with recent genetic studies, which have posited the possibility of an earlier dispersal of Homo sapiens around 220,000 years ago. The Misliya maxilla is associated with full-fledged Levallois technology in the Levant, suggesting that the emergence of this technology is linked to the appearance of Homo sapiens in the region, as has been documented in Africa. Copyright © 2018, The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.
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A study on etiologic agents and clinical manifestations of dermatophytosis in Yazd, Iran
Rashidian, S; Falahati, M; Kordbacheh, P; Mahmoudi, M; Safara, M; Sadeghi Tafti, H; Mahmoudi, S; Zaini, F
2015-01-01
Background and Purpose: Dermatophytosis is one of the most common infections of skin, hair, and nails, caused by a group of keratinophilic fungi known as dermatophytes. Species identification of these fungi is of great significance from epidemiological and therapeutic points of view. The objective of the present study was to investigate dermatophytosis and its causative agents in patients, referring to the Central Mycology Laboratory of Yazd University of Medical Sciences, Yazd, Iran. Materials and Methods: In total, 139 clinically suspected cases of dermatophytosis were examined during 12 months from February 2014 to February 2015. Skin scrapings were assessed through direct microscopic examinations and culture studies. Dermatophyte isolates were identified based on colony morphology on potato dextrose agar and dermatophyte test medium, nutritional requirements, urease and hair perforation tests, and microscopic characteristics on slide cultures. Results: Dermatophytosis was mycologically confirmed in 26 (18.70%) out of 139 cases. Although there was a statistically insignificant difference between male and female subjects, men were dominantly affected. Infection was significantly common in the age group of ≤ 29 years (P<0.043). The most common clinical manifestation of dermatophytosis was tinea corporis (69.2%), followed by tinea cruris (15.4%), tinea manuum (11.5%), and tinea pedis (3.8%). Trichophyton mentagrophytes complex was the main etiologic agent (38.5%), followed by T. rubrum (23%), T. violaceum (15.5%), T. verrucosum (11.5%), Microsporum canis (7.7%), and Epidermophyton floccosum (3.8%). Conclusion: In comparison with previous research, epidemiology of dermatophytosis has changed in Yazd over the past decades. Therefore, periodical investigations on the epidemiological aspects of this infection are required for efficient control and prevention of this cutaneous dermatophytic disease. PMID:28681000
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Boonyuen, Usa; Chamchoy, Kamonwan; Swangsri, Thitiluck; Junkree, Thanyaphorn; Day, Nicholas P J; White, Nicholas J; Imwong, Mallika
2017-11-01
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common polymorphism and enzymopathy in humans, affecting approximately 400 million people worldwide. It is responsible for various clinical manifestations, including favism, hemolytic anemia, chronic non-spherocytic hemolytic anemia, spontaneous abortion, and neonatal hyperbilirubinemia. Understanding the molecular mechanisms underlying the severity of G6PD deficiency is of great importance but that of many G6PD variants are still unknown. In this study, we report the construction, expression, purification, and biochemical characterization in terms of kinetic properties and stability of five clinical G6PD variants-G6PD Bangkok, G6PD Bangkok noi, G6PD Songklanagarind, G6PD Canton+Bangkok noi, and G6PD Union+Viangchan. G6PD Bangkok and G6PD Canton+Bangkok noi showed a complete loss of catalytic activity and moderate reduction in thermal stability when compared with the native G6PD. G6PD Bangkok noi and G6PD Union+Viangchan showed a significant reduction in catalytic efficiency, whereas G6PD Songklanagarind showed a catalytic activity comparable to the wild-type enzyme. The Union+Viangchan mutation showed a remarkable effect on the global stability of the enzyme. In addition, our results indicate that the location of mutations in G6PD variants affects their catalytic activity, stability, and structure. Hence, our results provide a molecular explanation for clinical manifestations observed in individuals with G6PD deficiency. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.
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Earliest Memories and Recent Memories of Highly Salient Events--Are They Similar?
ERIC Educational Resources Information Center
Peterson, Carole; Fowler, Tania; Brandeau, Katherine M.
2015-01-01
Four- to 11-year-old children were interviewed about 2 different sorts of memories in the same home visit: recent memories of highly salient and stressful events--namely, injuries serious enough to require hospital emergency room treatment--and their earliest memories. Injury memories were scored for amount of unique information, completeness…
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Endocrine disorders which manifest in the lower extremity.
Rubenstein, S A; Boxer, M C
1985-10-01
This article has attempted to alert the podiatric medical practitioner to those endocrine disorders which have pedal manifestations. With the clinical information presented here, the podiatrist is in a unique position to identify early signs of endocrine disease. By doing so, the podiatric practitioner may play a vital role as a member of the primary care team.
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The Earliest Ion Channels in Protocellular Membranes
NASA Technical Reports Server (NTRS)
Mijajlovic, Milan; Pohorille, Andrew; Wilson, Michael; Wei, Chenyu
2010-01-01
Cellular membranes with their hydrophobic interior are virtually impermeable to ions. Bulk of ion transport through them is enabled through ion channels. Ion channels of contemporary cells are complex protein molecules which span the membrane creating a cylindrical pore filled with water. Protocells, which are widely regarded as precursors to modern cells, had similarly impermeable membranes, but the set of proteins in their disposal was much simpler and more limited. We have been, therefore, exploring an idea that the first ion channels in protocellular membranes were formed by much smaller peptide molecules that could spontaneously selfassemble into short-lived cylindrical bundles in a membrane. Earlier studies have shown that a group of peptides known as peptaibols is capable of forming ion channels in lipid bilayers when they are exposed to an electric field. Peptaibols are small, non-genetically encoded peptides produced by some fungi as a part of their system of defense against bacteria. They are usually only 14-20 residues long, which is just enough to span the membrane. Their sequence is characterized by the presence of non-standard amino acids which, interestingly, are also expected to have existed on the early earth. In particular, the presence of 2-aminoisobutyric acid (AIB) gives peptaibols strong helix forming propensities. Association of the helices inside membranes leads to the formation of cylindrical bundles, typically containing 4 to 10 monomers. Although peptaibols are excellent candidates for models of the earliest ion channels their structures, which are stabilized only by van der Waals forces and occasional hydrogen bonds between neighboring helices, are not very stable. Although it might properly reflect protobiological reality, it is also a major obstacle in studying channel behavior. For this reason we focused on two members of the peptaibol family, trichotoxin and antiamoebin, which are characterized by a single conductance level. This
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The earliest ion channels in protocellular membranes
NASA Astrophysics Data System (ADS)
Mijajlovic, Milan; Pohorille, Andrew; Wilson, Michael; Wei, Chenyu
Cellular membranes with their hydrophobic interior are virtually impermeable to ions. Bulk of ion transport through them is enabled through ion channels. Ion channels of contemporary cells are complex protein molecules which span the membrane creating a cylindrical pore filled with water. Protocells, which are widely regarded as precursors to modern cells, had similarly impermeable membranes, but the set of proteins in their disposal was much simpler and more limited. We have been, therefore, exploring an idea that the first ion channels in protocellular membranes were formed by much smaller peptide molecules that could spontaneously self-assemble into short-lived cylindrical bundles in a membrane. Earlier studies have shown that a group of peptides known as peptaibols is capable of forming ion channels in lipid bilayers when they are exposed to an electric field. Peptaibols are small, non-genetically encoded peptides produced by some fungi as a part of their system of defense against bacteria. They are usually only 14-20 residues long, which is just enough to span the membrane. Their sequence is characterized by the presence of non-standard amino acids which, interestingly, are also expected to have existed on the early earth. In particular, the presence of 2-aminoisobutyric acid (AIB) gives peptaibols strong helix forming propensities. Association of the helices inside membranes leads to the formation of cylindrical bundles, typically containing 4 to 10 monomers. Although peptaibols are excellent candidates for models of the earliest ion channels their struc-tures, which are stabilized only by van der Waals forces and occasional hydrogen bonds between neighboring helices, are not very stable. Although it might properly reflect protobiological real-ity, it is also a major obstacle in studying channel behavior. For this reason we focused on two members of the peptaibol family, trichotoxin and antiamoebin, which are characterized by a single conductance level. This
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Uveitis as an initial manifestation of acquired immunodeficiency syndrome.
Tsen, Chui-Lien; Chen, Shih-Chou; Chen, Yao-Shen; Sheu, Shwu-Jiuan
2017-10-01
Human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) is a multisystem disease that can involve the human eyes. Using ophthalmic examination records from January 2006 to November 2015, we retrospectively reviewed all patients who were diagnosed with HIV/AIDS in our hospital. The study was performed at a tertiary referral center in southern Taiwan. Data included age, gender, ophthalmic examinations, systemic conditions, CD4 cell counts, course, and treatment. Eleven patients were identified as having AIDS with uveitis as their presenting manifestation. All were men, with a mean age of 39.5 ± 11.4 years (range 24-56). The mean CD4 + T-cell counts were 91.7 ± 50.3 cells/μl (range 27-169). Ocular diagnoses included cytomegalovirus (CMV) retinitis in five patients, ocular syphilis in four patients, and ocular toxoplasmosis in two patients. Uveitis resolved in all patients after medical treatment. However, a retinal detachment developed in two eyes in CMV retinitis and one eye in ocular syphilis. Ocular manifestations are among the most common clinical features in patients with HIV/AIDS who have varying clinical presentations that affect almost all ocular structures. This study demonstrated that ocular findings could be an initial manifestation of an underlying disease. Awareness of ocular lesions in HIV/AIDS is important for early recognition and management.
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What rheumatologists should know about orofacial manifestations of autoimmune rheumatic diseases.
Abrão, Aline Lauria Pires; Santana, Caroline Menezes; Bezerra, Ana Cristina Barreto; Amorim, Rivadávio Fernandes Batista de; Silva, Mariana Branco da; Mota, Licia Maria Henrique da; Falcão, Denise Pinheiro
Orofacial manifestations occur frequently in rheumatic diseases and usually represent early signs of disease or of its activity that are still neglected in clinical practice. Among the autoimmune rheumatic diseases with potential for oral manifestations, rheumatoid arthritis (RA), inflammatory myopathies (IM), systemic sclerosis (SSc), systemic lupus erythematosus (SLE), relapsing polychondritis (RP) and Sjögren's syndrome (SS) can be cited. Signs and symptoms such as oral hyposalivation, xerostomia, temporomandibular joint disorders, lesions of the oral mucosa, periodontal disease, dysphagia, and dysphonia may be the first expression of these rheumatic diseases. This article reviews the main orofacial manifestations of rheumatic diseases that may be of interest to the rheumatologist for diagnosis and monitoring of autoimmune rheumatic diseases. Copyright © 2016 Elsevier Editora Ltda. All rights reserved.
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What rheumatologists should know about orofacial manifestations of autoimmune rheumatic diseases.
Abrão, Aline Lauria Pires; Santana, Caroline Menezes; Bezerra, Ana Cristina Barreto; Amorim, Rivadávio Fernandes Batista de; Silva, Mariana Branco da; Mota, Licia Maria Henrique da; Falcão, Denise Pinheiro
2016-02-11
Orofacial manifestations occur frequently in rheumatic diseases and usually represent early signs of disease or of its activity that are still neglected in clinical practice. Among the autoimmune rheumatic diseases with potential for oral manifestations, rheumatoid arthritis (RA), inflammatory myopathies (IM), systemic sclerosis (SSc), systemic lupus erythematosus (SLE), relapsing polychondritis (RP) and Sjögren's syndrome (SS) can be cited. Signs and symptoms such as oral hyposalivation, xerostomia, temporomandibular joint disorders, lesions of the oral mucosa, periodontal disease, dysphagia, and dysphonia may be the first expression of these rheumatic diseases. This article reviews the main orofacial manifestations of rheumatic diseases that may be of interest to the rheumatologist for diagnosis and monitoring of autoimmune rheumatic diseases. Copyright © 2016 Elsevier Editora Ltda. All rights reserved.
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Ono, Emi; Mori, Yuki; Yoshioka, Yoshichika; Nomura, Yuko; Munetsugu, Takichi; Yokozeki, Hiroo; Katayama, Ichiro
2018-01-01
Sweat includes active components and metabolites, which are needed to maintain skin homeostasis. Component changes in sweat derived from atopic dermatitis (AD) have been reported. To investigate the influence of sweat components on the pathogenesis of AD, we performed a multifaceted assessment, including nuclear magnetic resonance spectroscopy-based metabolomic analysis, and linked these features to clinical features of AD. Distinctive properties of AD sweat are the quite-variation in protein, anti-microbial peptides and glucose concentrations. pH, sodium, and other salt levels in sweat of AD were comparable to that of healthy subjects. Sweat from AD patients with acute inflammation had a more prominent increase in glucose concentration than sweat from healthy individuals or those with AD with chronic inflammation. Topical glucose application delayed recovery of transepidermal water loss in barrier-disrupted mice. Furthermore, the glucose transporter GLUT2 was highly expressed in the lumen of sweat glands from AD patients. AD patients with chronic inflammation had significantly increased GLUT2 mRNA expression and near normal sweat glucose levels. Despite the small sample size in our study, we speculate that the increased glucose levels might be affected by AD severity and phenotype. We hope that this report will bring novel insight into the impact of sweat components on the clinical manifestation of AD. PMID:29677207
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Disease-related and drug-induced skin manifestations in inflammatory bowel disease.
Hindryckx, Pieter; Novak, Gregor; Costanzo, Antonio; Danese, Silvio
2017-03-01
Skin manifestations are common in patients with inflammatory bowel diseases (IBD) and can be part of a concomitant illness with a shared genetic background, an extra-intestinal manifestation of the disease, or a drug side-effect. Areas covered: We provide a practical overview of the epidemiology, pathogenesis, diagnosis, therapeutic approach and prognosis of the most frequent disease-related and drug-induced cutaneous manifestations in IBD, illustrated by cases encountered in our clinical practice. Among the most frequently encountered IBD-related lesions are erythema nodosum, pyoderma gangrenosum and Sweet's syndrome. Common skin manifestations with a strong association to TNF antagonists are local injection site reactions, psoriasiform lesions, cutaneous infections, vasculitides and lupus-like syndromes. In addition, we discuss the relation of thiopurines and TNF antagonists with the risk of skin cancer. Expert commentary: We hope this review will help caretakers involved in the management of IBD patients to recognize the lesions and to manage them in close collaboration with a dedicated dermatologist.
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Oral Manifestations in Pediatric Patients with Coeliac Disease - A Review Article.
Macho, Viviana Marisa Pereira; Coelho, Ana Sofia; Veloso E Silva, Diana Maria; de Andrade, David José Casimiro
2017-01-01
Coeliac disease is a chronic enteropathy that remains a challenge for the clinician, due to its atypical manifestations and etiopathogenic complexity. This article intends to describe the oral characteristics of Coeliac Disease in children in order to facilitate their management in the dental office. A review of the literature was performed electronically in PubMed (PubMed Central, and MEDLINE) for articles published in English from 2000 to April of 2017. The article is also based on the authors' clinical experience with children with coeliac disease. The searched keywords were "coeliac disease ","oral manifestations ", "dental enamel defects", "recurrent aphthous stomatitis" and "oral aphthous ulcers". There are some oral manifestations which are strictly related to coeliac disease: dental enamel defects, recurrent aphthous stomatitis, delayed tooth eruption, multiple caries, angular cheilitis, atrophic glossitis, dry mouth and burning tongue. The complete knowledge of the oral manifestations of coeliac disease can trigger an effective change in the quality of life of the patients with this disease.
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Origin and earliest state of the earth's hydrosphere
DOE Office of Scientific and Technical Information (OSTI.GOV)
Cogley, J.G.; Henderson-Sellers, A.
1984-05-01
The origin and earliest history of the earth's hydrosphere, the inventory of excess volatiles defined by Rubey in 1951, can be constrained within wide but useful limits by a consideration of empirical and theoretical evidence from astrophysics and geology. Models for the evolution of the solar system from the protoplanetary nebula and for the growth of the earth to its present dimensions suggest quite strongly that the hydrosphere came into being during accretion. Its format, with H/sub 2/O mostly in the oceans, CO/sub 2/ mostly in sediments, and a residual atmosphere dominated by N/sub 2/, CO/sub 2/, and H/sub 2/Omore » was established at a very early data and has persisted without large, destabilizing climatic excursions until the present day. Alternative accounts of early history, in which the earth either loses a massive primordial atmosphere or acquires its secondary atmosphere by gradual degassing, seem improbable on the basis of a series of circumstantial but cumulatively persuasive arguments. The difficulty of dissipating a massive atmosphere of solar composition in reasonable times, the likelihood that accretion was a highly energetic process and that it triggered early segregation of the core, and the tendency of the planet to accumulate volatiles preferentially in the later stages of accretion are examples of arguments favoring an early origin for the hydrosphere. Several geological isotope systems which can be sampled today require early separation of the atmosphere and probably the hydrosphere ass a whole; these systems recorrd radiogenic enrichment patterns in the noble gases and stable isotope fractionations which suggest an early origin of the biosphere. Certain geological indicators of atmsopheric composition. and the broadly equable character of the rock record, are also consistent with a hydrosphere established in the earliest stages of history and having an initial neutral or weakly reduced composition.« less
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Pamuk, O N; Akbay, F G; Dönmez, S; Yilmaz, N; Calayir, G B; Yavuz, S
2013-11-01
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with a variety of clinical features. Survival has become longer as a result of better treatment modalities and better supportive care. There is no information on survival of SLE patients in Turkey. We evaluated clinical features and survival in SLE patients in two rheumatology departments. All SLE patients being followed up by the Department of Rheumatology, Trakya University Medical Faculty, and the Department of Rheumatology, Marmara University Medical Faculty, over the 1996-2012 period were included. Patients were diagnosed with SLE if they fulfilled at least four American College of Rheumatology (ACR) criteria. The clinical and laboratory features, mortality data were obtained from medical charts. We had 428 SLE patients, and women (399 patients, 93.2%) far outnumbered men (29 patients, 6.8%). The mean age at the time of SLE diagnosis was 40.3 ± 12.4 years. The most frequent clinical manifestations were arthritis (76.9%) and photosensitivity (70.1%). Renal disease was present in 32.9% of patients and neurological involvement in 12.9% of patients. After a median follow-up of 60 months, 19 patients died. The most frequent causes of death were ischemic heart disease, chronic renal failure and sepsis. The rate of five-year survival was 96%; 10-year survival, 92%; and 15-year survival, 88.8%. Multivariate Cox analysis showed that serositis at the time of diagnosis, SLE disease activity index (SLEDAI) score 6, and autoimmune hemolytic anemia were independent prognostic factors. Data from two centers in Northwestern Turkey show that the mortality rate for SLE is similar to the rate in Western countries.
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Aburto-Mejía, Elsa; Santiago-Germán, David; Martínez-Marino, Manuel; María Eugenia Galván-Plata; Almeida-Gutiérrez, Eduardo; López-Alarcón, Mardia; Hernández-Juárez, Jesús; Alvarado-Moreno, Antonio; Leaños-Miranda, Alfredo; Majluf-Cruz, Abraham; Isordia-Salas, Irma
2017-01-01
Background . Metabolic and genetic factors induce plasminogen activator inhibitor type-1 (PAI-1) overexpression; higher PAI-1 levels decrease fibrinolysis and promote atherothrombosis. Aim . To assess PAI-1 antigen levels among subjects with type 2 diabetes mellitus (T2DM) plus Metabolic Syndrome (MetS) before clinical manifestations of atherothrombosis and the contribution of metabolic factors and 4G/5G polymorphism of PAI-1 gene on the variability of PAI-1. Methods . We conducted an observational, cross-sectional assay in a hospital in Mexico City from May 2010 to September 2011. MetS was defined by the International Diabetes Federation criteria. PAI-1 levels and 4G/5G polymorphism were determined by ELISA and PCR-RFLP analysis. Results . We enrolled 215 subjects with T2DM plus MetS and 307 controls. Subjects with T2DM plus MetS had higher PAI-1 levels than the reference group (58.4 ± 21 versus 49.9 ± 16 ng/mL, p = 0.026). A model with components of MetS explained only 12% of variability on PAI-1 levels ( R 2 = 0.12; p = 0.001), with β = 0.18 ( p = 0.03) for hypertension, β = -0.16 ( p = 0.05) for NL HDL-c, and β = 0.15 ( p = 0.05) for NL triglycerides. Conclusion . Subjects with T2DM plus MetS have elevated PAI-1 levels before clinical manifestations of atherothrombotic disease. Metabolic factors have a more important contribution than 4G/5G polymorphism on PAI-1 plasma variability.
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Aburto-Mejía, Elsa; Santiago-Germán, David; Martínez-Marino, Manuel; María Eugenia Galván-Plata; Almeida-Gutiérrez, Eduardo; Hernández-Juárez, Jesús; Alvarado-Moreno, Antonio; Leaños-Miranda, Alfredo
2017-01-01
Background. Metabolic and genetic factors induce plasminogen activator inhibitor type-1 (PAI-1) overexpression; higher PAI-1 levels decrease fibrinolysis and promote atherothrombosis. Aim. To assess PAI-1 antigen levels among subjects with type 2 diabetes mellitus (T2DM) plus Metabolic Syndrome (MetS) before clinical manifestations of atherothrombosis and the contribution of metabolic factors and 4G/5G polymorphism of PAI-1 gene on the variability of PAI-1. Methods. We conducted an observational, cross-sectional assay in a hospital in Mexico City from May 2010 to September 2011. MetS was defined by the International Diabetes Federation criteria. PAI-1 levels and 4G/5G polymorphism were determined by ELISA and PCR-RFLP analysis. Results. We enrolled 215 subjects with T2DM plus MetS and 307 controls. Subjects with T2DM plus MetS had higher PAI-1 levels than the reference group (58.4 ± 21 versus 49.9 ± 16 ng/mL, p = 0.026). A model with components of MetS explained only 12% of variability on PAI-1 levels (R2 = 0.12; p = 0.001), with β = 0.18 (p = 0.03) for hypertension, β = −0.16 (p = 0.05) for NL HDL-c, and β = 0.15 (p = 0.05) for NL triglycerides. Conclusion. Subjects with T2DM plus MetS have elevated PAI-1 levels before clinical manifestations of atherothrombotic disease. Metabolic factors have a more important contribution than 4G/5G polymorphism on PAI-1 plasma variability. PMID:28271069
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Ophthalmologic manifestations of celiac disease
Martins, Thiago Gonçalves dos Santos; Costa, Ana Luiza Fontes de Azevedo; Oyamada, Maria Kiyoko; Schor, Paulo; Sipahi, Aytan Miranda
2016-01-01
Celiac disease is an autoimmune disorder that affects the small intestine of genetically predisposed individuals. Ophthalmic manifestations are within the extra-intestinal manifestations, and can be divided into those of autoimmune disorders or those due to absorptive disabilities. This article reviewed the ophthalmologic manifestation of celiac disease. Ophthalmic symptoms are rare, but should be investigated in patients with celiac disease and taken into consideration as the first systemic manifestation. PMID:26949627
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K-ras Mutations as the Earliest Driving Force in a Subset of Colorectal Carcinomas
MARGETIS, NIKOLAOS; KOULOUKOUSSA, MYRSINI; PAVLOU, KYRIAKI; VRAKAS, SPYRIDON; MARIOLIS-SAPSAKOS, THEODOROS
2017-01-01
K-ras oncogene is a key factor in colorectal cancer. Based on published and our data we propose that K-ras could be the oncogene responsible for the inactivation of the tumor-suppressor gene APC, currently considered as the initial step in colorectal tumorigenesis. K-ras fulfills the criteria of the oncogene-induced DNA damage model, as it can provoke well- established causes for inactivating tumor-suppressors, i.e. DNA double-strand breaks (causing allele deletion) and ROS production (responsible for point mutation). The model we propose is a variation of the currently existing model and hypothesizes that, in a subgroup of colorectal carcinomas, K-ras mutation may precede APC inactivation, representing the earliest driving force and, probably, an early biomarker of colorectal carcinogenesis. This observation is clinically useful, since it may modify the preventive colorectal cancer strategy, restricting numerically patients undergoing colonoscopies to those bearing K-ras mutation in their colorectum, either in benign polyps or the normal accompanying mucosa. PMID:28652417
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The skin as a window to the blood: Cutaneous manifestations of myeloid malignancies.
Li, Alvin W; Yin, Emily S; Stahl, Maximilian; Kim, Tae Kon; Panse, Gauri; Zeidan, Amer M; Leventhal, Jonathan S
2017-11-01
Cutaneous manifestations of myeloid malignancies are common and have a broad range of presentations. These skin findings are classified as specific, due to direct infiltration by malignant hematopoietic cells, or non-specific. Early recognition and diagnosis can have significant clinical implications, as skin manifestations may be the first indication of underlying hematologic malignancy, can reflect the immune status and stage of disease, and cutaneous reactions may occur from conventional and targeted agents used to treat myeloid disease. In addition, infections with cutaneous involvement are common in immunocompromised patients with myeloid disease. Given the varying presentations, dermatologic findings associated with myeloid malignancies can pose diagnostic challenges for hematologists and dermatologists. In this clinical review intended for the practicing hematologist/oncologist, we discuss the presentation, diagnosis, treatment, and prognostic value of the most common cutaneous manifestations associated with myeloid malignancies using illustrative macro- and microscopic figures and with a special emphasis on practical considerations. Copyright © 2017 Elsevier Ltd. All rights reserved.
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Considerations on Terrestrial Iron Depositing Analogs to Earliest Mars
NASA Technical Reports Server (NTRS)
Brown, Igor I.; Allen, Carlton C.; Sarkisova, S. A.; Garrison, D. H.; McKay, D. S.
2007-01-01
Iron oxide and hydroxide minerals, including hematite, can mineralize and preservemicrofossils and physical biomarkers (Allen at al., 2004). Preserved remnants of phototrophic microorganisms are recognized as biosignatures of past life on Earth (Schopf, 2006). To date, two types of surface iron depositing environments have been studied as analogs to possible habitable environments on earliest Mars: the highly acidified Rio Tinto River (Iberian Belt, Spain) [Gomez Ortis et al., 2007], and the nearneutral iron depositing Chocolate Pots Hot Spring (Yellowstone National Park, US) [Parenteau at al., 2005]. While phototrophs in the Rio Tinto are only represented by eukaryotic algae (Amaral Zettler et all., 2002), Chocolate Pots is mainly populated with cyanobacteria (Pierson et all., 2000; Brown et all., 2007). Which of these environments is the closer analog to a potentially habitable early Mars? Paleobiological data, combined with recent "tree of life" interpretations, suggest that phototrophic eukaryotes evolved not earlier than 2.5 - 2.8 b.y. after Earth s accretion (4.6 b.y.), while cyanobacteria and /or their iron-tolerant predecessors evolved between 1 - 1.5 b.y. after accretion (Brown et al., 2007). Lindsay and Brasier (2002) postulated that microbial life on Mars surface could have lasted no more than 1-1.5 b.y. after Mars accretion (also 4.6 b.y.). Recent multispectral mapping of Mars suggests that near-neutral wet environments prevailed at approximately this time (Bibring, et al., 2006). Thus, near-neutral iron depositing hot springs such as Chocolate Pots Hot Spring seem to be the more likely habitable analogs for earliest Mars.
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The earliest modern mongoose (Carnivora, Herpestidae) from Africa (late Miocene of Chad)
NASA Astrophysics Data System (ADS)
Peigné, Stéphane; Bonis, Louis; Likius, Andossa; Mackaye, Hassane Taïsso; Vignaud, Patrick; Brunet, Michel
2005-06-01
We report on the earliest modern mongooses of Africa, from the late Miocene (ca. 7 Ma) of the hominid locality TM 266, Toros-Menalla, Chad. The material is based on fragmentary dentitions of three individuals. The main diagnostic feature of the Chadian species is the great development of the shear in the carnassials, which distinguishes the Chadian specimens from all extant herpestids except Herpestes and Galerella. In comparison with most extinct and extant Herpestes, the species from Toros-Menalla differs by a markedly smaller size and, depending on the species, relatively more elongated carnassials, more transversely elongated M1 and more reduced p4. On the basis of a great morphological similarity and the absence of significant differences, we assign our material to Galerella sanguinea; the Chadian finding therefore represents the earliest appearance of an extant species of Herpestidae. This record ties the first appearance of the genus to a minimum age of ca. 7 Ma, which is consistent with the estimated divergence date of 11.4 Ma known from the literature for the species of Galerella.
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The earliest modern mongoose (Carnivora, Herpestidae) from Africa (late Miocene of Chad).
Peigné, Stéphane; de Bonis, Louis; Likius, Andossa; Mackaye, Hassane Taïsso; Vignaud, Patrick; Brunet, Michel
2005-06-01
We report on the earliest modern mongooses of Africa, from the late Miocene (ca. 7 Ma) of the hominid locality TM 266, Toros-Menalla, Chad. The material is based on fragmentary dentitions of three individuals. The main diagnostic feature of the Chadian species is the great development of the shear in the carnassials, which distinguishes the Chadian specimens from all extant herpestids except Herpestes and Galerella. In comparison with most extinct and extant Herpestes, the species from Toros-Menalla differs by a markedly smaller size and, depending on the species, relatively more elongated carnassials, more transversely elongated M1 and more reduced p4. On the basis of a great morphological similarity and the absence of significant differences, we assign our material to Galerella sanguinea; the Chadian finding therefore represents the earliest appearance of an extant species of Herpestidae. This record ties the first appearance of the genus to a minimum age of ca. 7 Ma, which is consistent with the estimated divergence date of 11.4 Ma known from the literature for the species of Galerella.
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Various Manifestations of Hyperthyroidism in an Ambulatory Clinic: Case Studies
Tripp, Warren; Rao, Vijaya; Creary, Ludlow B.
1987-01-01
This study reviews five cases of women with hyperthyroidism, three black women and two Hispanic women. Initially, two patients presented with voice changes, weight loss, and increased appetite. Only two patients presented with classical symptoms of hyperthyroidism. Examination showed all patients had diffusely enlarged thyroids and exaggerated reflexes. Two patients showed Graves' opthalmopathy. These cases document the variety of presentations of hyperthyroidism. Hence, a high index of suspicion must exist for this disease, even in the absence of a number of the classical manifestations of hyperthyroidism. When patients present to primary care centers with a constellation of symptoms, an examination of the thyroid gland is essential. PMID:3694696
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[Hereditary hemochromatosis: presenting manifestations and diagnostic delay].
Gasser, B; Courtois, F; Hojjat-Assari, S; Sauleau, E A; Buffet, C; Brissot, P
2014-03-01
Hereditary hemochromatosis is characterized by an excessive absorption and progressive accumulation of iron in the liver, the pancreas, the heart, and the joints. Tiredness and joint manifestations occur usually before hepatopathy, diabetes or cardiopathy. Such common and unspecific symptoms seem to be largely unknown and important diagnostic delays have been reported. The aim of this study was to investigate the discovery circumstances and the diagnostic delay. A survey was carried out amongst French patients with C282Y homozygous hemochromatosis who were contacted through patients associations or blood centers. The questionnaire was answered by 374 patients. Mean age at diagnosis was 48.6±11.9years. In 53% of the cases, the serum level of ferritin was greater than 1000 μg/L. Diagnosis was based on family genetic survey (29%), or fortuitous analyses showing an abnormal serum ferritin (26%), or clinical manifestations (45%). Main complaints were joint pain, tiredness or liver disease. Only 2.1% consulted for diabetes, cardiopathy or changed complexion. Time to diagnosis was lower than 1 year for 98% of patients who presented with fatigue but from 1 to 15 years for 23.4% and 29% of patients who presented with arthropathy and hepatopathy, respectively. For 55% of patients, diagnosis was based on familial genetic survey or fortuitous abnormal results of blood samples. An initial serum level of ferritin greater than 1000 μg/L was a factor of severity for 50% of patient. These two elements must be taken into account to consider a population mass screening. Long time to diagnosis required a sensitization of the population to be aware of the clinical manifestations of hemochromatosis. Copyright © 2013 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.
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Maternal Reminiscing Style during Early Childhood Predicts the Age of Adolescents' Earliest Memories
ERIC Educational Resources Information Center
Jack, Fiona; MacDonald, Shelley; Reese, Elaine; Hayne, Harlene
2009-01-01
Individual differences in parental reminiscing style are hypothesized to have long-lasting effects on children's autobiographical memory development, including the age of their earliest memories. This study represents the first prospective test of this hypothesis. Conversations about past events between 17 mother-child dyads were recorded on…
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Chorea as a rare manifestation of hyperglycaemia.
Patil, Rajesh; Sangoi, Parin; Wasekar, Nilesh; Vishwanathan, Deepti; Jadhav, S G; Joglekar, V K
2013-09-01
We present a case of chorea presenting as a clinical manifestation of hyperglycaemia.The purpose of presenting this case is to highlight the fact that movement disorder may be the clinical presentation of hyperglycaemia and it reverts on treatment of hyperglycaemia. A 66-year-old female known case of type 2 diabetes mellitus and on oral hypoglycaemic drugs presented with abnormal and involuntary movements of the whole body and face since 7 days and high plasma glucose (446 mg/dl) and without ketosis. On controlling the blood sugar, there has been significant decrease in choreiform movements within 48 hrs and complete resolution of involuntary movements found at discharge at 1 week. Movement disorder like chorea may be the clinical presentation of the hyperglycaemia which could completely recover on rapid detection and correction of hyperglycaemia.
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Flower, Cindy; Hennis, Anselm J M; Hambleton, Ian R; Nicholson, George D; Liang, Matthew H
2012-08-01
To assess the epidemiology, clinical features, and outcomes of systemic lupus erythematosus (SLE) in the predominantly African Caribbean population of Barbados. A national registry of all patients diagnosed with SLE was established in 2007. Complete case ascertainment was facilitated by collaboration with the island's sole rheumatology service, medical practitioners, and the lupus advocacy group. Informed consent was required for inclusion. Between January 1, 2000 and December 31, 2009, there were 183 new cases of SLE (98% African Caribbean) affecting 172 women and 11 men for unadjusted annual incidence rates of 12.21 (95% confidence interval [95% CI] 10.46-14.18) and 0.84 (95% CI 0.42-1.51) per 100,000 person-years, respectively. Excluding pediatric cases (ages <18 years), the unadjusted incidence rate among women was 15.14 per 100,000 person-years. The principal presenting manifestations were arthritis (84%), nephritis (47%), pleuritis (41.5%), malar rash (36.4%), and discoid lesions (33.1%). Antinuclear antibody positivity was 95%. The overall 5-year survival rate was 79.9% (95% CI 69.6-87.1), decreasing to 68% in patients with nephritis. A total of 226 persons with SLE were alive at the end of the study for point prevalences of 152.6 (95% CI 132.8-174.5) and 10.1 (95% CI 5.4-17.2) per 100,000 among women and men, respectively. Rates of SLE in Barbadian women are among the highest reported to date, with clinical manifestations similar to African American women and high mortality. Further study of this population and similar populations of West African descent might assist our understanding of environmental, genetic, and health care issues underpinning disparities in SLE. Copyright © 2012 by the American College of Rheumatology.
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Oral manifestations of HIV/AIDS in Asia: Systematic review and future research guidelines.
Sharma, Gaurav; Oberoi, Sukhvinder-Singh; Vohra, Puneeta; Nagpal, Archna
2015-07-01
The authors have conducted a systematic review of oral manifestations of HIV from studies conducted in Asia to establish the characteristics and prevalence of individual oral manifestations in Asia, and to assess the direction of future research studies on oral manifestations of HIV in Asia. The electronic retrieval systems and databases searched for relevant articles were PubMed [MEDLINE], EBSCO, and EMBASE. The search was for limited articles published in English or with an English abstract and articles published during the period January 1995 to August 2014. The authors reached a final overall sample of 39 studies that were conducted in Asia. The median population size among all studies was 312.7 patients. Oral candidiasis [OC] was the most common oral manifestation [37.7%] in studies conducted in Asia. The overall prevalence of oral hairy leukoplakia and melanotic hyperpigmentation was computed to be 10.1% and 22.8% respectively. Thailand and India are primarily countries with maximum research on oral manifestations. The research on oral manifestations of HIV in Asia has to upgrade to more interventional and therapeutic studies rather than the contemporary cross- sectional epidemiological descriptive studies. The authors have given suggestions and future directions for the implementation of clinical research of oral manifestations in HIV patients. Key words:Oral manifestations, HIV/AIDS, Asia, Systematic review.
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Caya, J G
2001-01-01
The anaerobic bacterium Clostridium botulinum causes disease by elaborating an extremely potent neurotoxin that inhibits release of acetylcholine at presynaptic nerve endings, thereby resulting in a descending flaccid paralysis and autonomic nervous system dysfunction. Possible ophthalmological effects of this neurotoxin are many and typically constitute the earliest manifestations of botulism. This review summarizes the medical literature on botulism with regard to historical perspective, epidemiology, clinical manifestations, and treatment. Ophthalmological findings of botulism are tabulated and their frequencies are provided. Finally, the bioterrorism/biologic warfare ramifications of botulinum toxin are briefly discussed.
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[Digestive system manifestations in children infected with novel influenza A (H1N1) virus].
Wei, Ju-Rong; Lu, Zhi-Wei; Tang, Zheng-Zhen; Wang, He-Ping; Zheng, Yue-Jie
2010-10-01
To study the digestive system manifestations in children infected with novel influenza A (H1N1) virus. A prospective study of 153 children infected with novel influenza A (H1N1) virus in Shenzhen Children's Hospital from November 2009 to January 2010 was conducted. The clinical features and outcomes of 69 children with digestive system manifestations were analyzed. The children presenting with digestive system manifestations accounted for 45% (69 cases) in the 153 hospitalized children with novel influenza A (H1N1) infection. Gastrointestinal manifestations were observed in 50 cases (33%) and liver function abnormality in 19 cases (12%). The incidence rate of coma, neurological complications, increase in creative kinase level, ICU admission, and death in the patients with digestive system manifestations were significantly higher than those without digestive system manifestations (P<0.05). In the 69 patients with digestive system manifestations, 5 died from severe complications and 64 recovered fully. Gastrointestinal manifestations disappeared through 1 to 3 days and abnormal liver function recovered through 4 to 7 days. Digestive system manifestations are common in children infected with novel influenza A (H1N1) virus. Neurological system involvements are more common in the patients with digestive system manifestations than those without.
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Facial asymmetry and clinical manifestations in patients with novel insertion of the TCOF1 gene.
Su, P-H; Liu, Y-F; Yu, J-S; Chen, J-Y; Chen, S-J; Lai, Y-J
2012-11-01
This study explored the role of TCOF1 insertion mutations in Taiwanese patients with craniofacial anomalies. Twelve patients with single or multiple, asymmetrical congenital craniofacial anomalies were enrolled. Genomic DNA was prepared from leukocytes; the coding regions of TCOF1 were analyzed by polymerase chain reaction and direct sequencing. Clinical manifestations were correlated to the TCOF1 mutation. Six of 12 patients diagnosed with hemifacial microsomia exhibited a novel insertion mutation 4127 ins G (frameshift) in exon 24 in the TCOF1 gene. All six patients were diagnosed with anomalies on the left side. In addition, four of these six patients had hearing impairment; three had other major anomalies; and two had developmental delay. The insertion caused a frameshift, an early truncation, the loss of two putative nuclear localization signals (residues 1404-1420 and 1424-1440), and the loss of coiled coil domain (1406-1426) in treacle protein. These findings support the existence of two regulators of growth of the mandibular condyles. © 2011 John Wiley & Sons A/S.
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Dodo-Siddo, M N; Diao, M; Ndiaye, M B; Ndongo, S; Kane, A; Mbaye, A; Bodian, M; Sarr, S A; Sarr, M; Ba, S; Diop, T M
2016-04-01
Research of cardiac involvement in patients with rheumatoid arthritis can prevent complications and place in a logical secondary prevention. The objective of this study was to investigate the echocardiographic parameters in a population of Senegalese patients with rheumatoid arthritis without clinically evident cardiovascular manifestations. We conducted a descriptive cross-sectional study, which included prospectively from outpatients in the internal medicine department of university hospital center Aristide Le Dantec in Dakar, Senegal, with a diagnosis of rheumatoid arthritis without clinically evident cardiovascular disease. It focused on a sample of 73 patients of both sexes aged at least 18 years. Following clinical examination, we conducted laboratory tests (CRP, fibrinogen, ESR, rheumatoid factors: Latex and Waaler-Rose, anti-CCP, antinuclear factors and anti-ENA antibodies), ECG, echocardiography standard. Data were analyzed using a descriptive study of the different variables with the calculation of proportions for categorical variables, and the positional parameters and dispersion for quantitative variables. A total of 73 patients with rheumatoid arthritis without obvious cardiac events and meeting the criteria of definition of the ACR 1987 were included in the study. The mean age was 44.17±14.43 years with extremes of 18 and 75 years. The mean duration of RA was 5.93±4.78 years. The concept of family inflammatory arthritis was reported in 35.60% of cases and almost one in six patients had at least a factor of cardiovascular risk (16.96%). The abnormalities found in Doppler echocardiography were dominated by diastolic LV dysfunction (42.46%), increased left ventricular mass in 35.61%. Valvular leaks of variable grades were highlighted regarding all orifices but were rarely significant. The realization of echocardiography in patients with rheumatoid arthritis without clinically evident cardiovascular manifestations helps to highlight cardiovascular
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Cutaneous Manifestation of Food Allergy.
Tam, Jonathan S
2017-02-01
Hypersensitivity reactions to foods can have diverse and highly variable manifestations. Cutaneous reactions, such as acute urticaria and angioedema, are among the most common manifestations of food allergy. However, cutaneous manifestations of food allergy encompass more than just IgE-mediated processes and include atopic dermatitis, contact dermatitis, and even dermatitis herpetiformis. These cutaneous manifestations provide an opportunity to better understand the diversity of adverse immunologic responses to food and the interconnected pathways that produce them. Copyright © 2016 Elsevier Inc. All rights reserved.
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Progressive kidney failure as the sole manifestation of extrapulmonary sarcoidosis.
Sethi, Supreet; Relia, Nitin; Syal, Gaurav; Kaushik, Chhavi; Gokden, Neriman; Malik, Ahmad B
2013-09-01
Sarcoidosis is a chronic multisystem disorder characterized by an accumulation of T lymphocytes and mononuclear phagocytes, non-caseating epitheliod granulomas and derangement of normal tissue architecture in affected organs. Sarcoidosis can affect any organ system, however approximately 90% of patients with sarcoidosis have pulmonary, lymph node, cutaneous or ocular manifestations. Renal involvement in sarcoidosis is rare and clinically significant renal dysfunction even less common. We present a case of isolated renal sarcoidosis which manifested with progressively worsening renal function and hypercalcemia. A systematic diagnostic approach with pertinent laboratory studies, imaging and renal biopsy elucidated the diagnosis of renal sarcoidosis without any evidence of systemic involvement.
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Current management of sarcoidosis I: pulmonary, cardiac, and neurologic manifestations.
West, Sterling G
2018-05-01
Sarcoidosis is a systemic disease characterized by noncaseating granulomatous inflammation of multiple organ systems. Pulmonary, cardiac, and neurologic involvements have the worst prognosis. Current recommendations for the therapeutic management and follow-up of sarcoidosis involving these critical organs will be reviewed. In those sarcoidosis patients requiring immunosuppressive therapy, corticosteroids are used first at varying doses depending on the presenting manifestation. Patients with symptomatic pulmonary, cardiac, or neurologic involvement will be maintained on corticosteroids for at least a year. Many require a second immunosuppressive agent with methotrexate used most commonly. Anti-tumor necrosis factor agents, especially infliximab, are effective and recommendations for their use have been proposed. Evidence-based treatment guidelines do not exist for most sarcoidosis clinical manifestations. Therefore, clinical care of these patients must rely on expert opinion. Patients are best served by a multidisciplinary approach to their care. Future research to identify environmental triggers, genetic associations, biomarkers for treatment response, and where to position new steroid-sparing immunosuppressive agents is warranted.
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PATTERN OF CUTANEOUS MANIFESTATIONS IN DIABETES MELLITUS
Goyal, Abhishek; Raina, Sujeet; Kaushal, Satinder S; Mahajan, Vikram; Sharma, Nand Lal
2010-01-01
Background: Diabetes mellitus affects individuals of all ages and socioeconomic status. Skin is affected by the acute metabolic derangements as well as by chronic degenerative complications of diabetes. Aims: To evaluate the prevalence of skin manifestations in patients with diabetes mellitus. To analyze the prevalence and pattern of skin disorders among diabetic patients from this region of Western Himalayas. Materials and Methods: One hundred consecutive patients with the diagnosis of diabetes mellitus and having skin lesions, either attending the diabetic clinic or admitted in medical wards were included in this study. Results: The common skin disorders were: Xerosis (44%), diabetic dermopathy (36%), skin tags (32%), cutaneous infections (31%), and seborrheic keratosis (30%). Conclusion: Skin is involved in diabetes quite often and the manifestations are numerous. High prevalence of xerosis in our diabetic population is perhaps due to cold and dry climatic conditions in the region for most of the time in the year. PMID:20418975
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Carod-Artal, Francisco J
2015-03-16
The epidemic caused by the Ebola virus in western Africa affects Guinea, Liberia, Sierra Leone, Nigeria, Mali and Senegal, and is the most serious to occur since the existence of this filovirus, which causes haemorrhagic fever, was first reported. This article reviews the epidemiological characteristics and clinical manifestations associated with the disease due to the Ebola virus. Until February 23, 2015 there have been 23,729 cases of Ebola, with a mortality rate of 40.1%. In the current epidemic, there are three ways the virus can be transmitted to human beings: contact with fluids and secretions from subjects already diagnosed with the disease, contact with dead bodies during burial ceremonies, and infection of relatives and healthcare personnel from as-yet undiagnosed patients. Ebola is the cause of a serious disease in humans. Following a period of incubation that can vary in length (2-21 days), a syndrome involving fever, headache, aching muscles, sore joints, vomiting and diarrhoea begins. The advanced phase is accompanied by haemorrhages, multiple organ failure, hypotension and shock. The incidence of neurological manifestations is unknown, but brain haemorrhages and post-infectious syndromes have been reported in other viral haemorrhagic fevers. Support care is vital. No proven effective treatment exists, although several patients have been treated with a cocktail of monoclonal antibodies (ZMapp). Early identification and diagnosis of suspected cases, isolation of sick patients and protective measures among healthcare staff are fundamental in the control of this epidemic.
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Haematological manifestations of lupus
Fayyaz, Anum; Igoe, Ann; Kurien, Biji T; Danda, Debashish; James, Judith A; Stafford, Haraldine A; Scofield, R Hal
2015-01-01
Our purpose was to compile information on the haematological manifestations of systemic lupus erythematosus (SLE), namely leucopenia, lymphopenia, thrombocytopenia, autoimmune haemolytic anaemia (AIHA), thrombotic thrombocytopenic purpura (TTP) and myelofibrosis. During our search of the English-language MEDLINE sources, we did not place a date-of-publication constraint. Hence, we have reviewed previous as well as most recent studies with the subject heading SLE in combination with each manifestation. Neutropenia can lead to morbidity and mortality from increased susceptibility to infection. Severe neutropenia can be successfully treated with granulocyte colony-stimulating factor. While related to disease activity, there is no specific therapy for lymphopenia. Severe lymphopenia may require the use of prophylactic therapy to prevent select opportunistic infections. Isolated idiopathic thrombocytopenic purpura maybe the first manifestation of SLE by months or even years. Some manifestations of lupus occur more frequently in association with low platelet count in these patients, for example, neuropsychiatric manifestation, haemolytic anaemia, the antiphospholipid syndrome and renal disease. Thrombocytopenia can be regarded as an important prognostic indicator of survival in patients with SLE. Medical, surgical and biological treatment modalities are reviewed for this manifestation. First-line therapy remains glucocorticoids. Through our review, we conclude glucocorticoids do produce a response in majority of patients initially, but sustained response to therapy is unlikely. Glucocorticoids are used as first-line therapy in patients with SLE with AIHA, but there is no conclusive evidence to guide second-line therapy. Rituximab is promising in refractory and non-responding AIHA. TTP is not recognised as a criteria for classification of SLE, but there is a considerable overlap between the presenting features of TTP and SLE, and a few patients with SLE have concurrent
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Ganesan, Mohan; Sathyaprabha, Talakad N; Pal, Pramod Kumar; Gupta, Anupam
2015-09-01
To evaluate the effect of conventional gait training (CGT) and partial weight-supported treadmill training (PWSTT) on gait and clinical manifestation. Prospective experimental research design. Hospital. Patients with idiopathic Parkinson disease (PD) (N=60; mean age, 58.15±8.7y) on stable dosage of dopaminomimetic drugs were randomly assigned into the 3 following groups (20 patients in each group): (1) nonexercising PD group, (2) CGT group, and (3) PWSTT group. The interventions included in the study were CGT and PWSTT. The sessions of the CGT and PWSTT groups were given in patient's self-reported best on status after regular medications. The interventions were given for 30min/d, 4d/wk, for 4 weeks (16 sessions). Clinical severity was measured by the Unified Parkinson Disease Rating Scale (UPDRS) and its subscores. Gait was measured by 2 minutes of treadmill walking and the 10-m walk test. Outcome measures were evaluated in their best on status at baseline and after the second and fourth weeks. Four weeks of CGT and PWSTT gait training showed significant improvements of UPDRS scores, its subscores, and gait performance measures. Moreover, the effects of PWSTT were significantly better than CGT on most measures. PWSTT is a promising intervention tool to improve the clinical and gait outcome measures in patients with PD. Copyright © 2015 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.
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Boronat, M; Carrillo, A; Ojeda, A; Estrada, J; Ezquieta, B; Marín, F; Nóvoa, F J
2004-06-01
The development of Cushing's disease among patients with deficiency of 21-hydroxylase has not been observed to date. The clinical manifestations and the hormonal profile of this exceptional association are herein described through the study of two cases. The first one was a 39-yr-old woman who had undergone non-curative transsphenoidal surgery for a pituitary-dependent Cushing's syndrome 12 yr before. She showed hypertension, central obesity, severe hirsutism, alopecia and hyperpigmentation. Urinary excretion of cortisol was normal, but ACTH levels were very high and hormonal dynamic studies (cortisol circadian rhythm, insulin-induced hypoglycemia and dexamethasone suppression tests) revealed the qualitative disturbances that characterize Cushing's disease. Serum concentrations of androstenedione, free testosterone and 17-hydroxyprogesterone were clearly increased. Reexamination of the tissue samples from previous surgery confirmed the presence of an ACTH-producing pituitary adenoma. CYP21 gene analysis found the splicing 655G mutation at intron 2 and the V281L mutation at exon 7. The second case was a 21-yr-old woman who was diagnosed with pituitary ACTH-dependent Cushing's syndrome according to unequivocal clinical and laboratory findings. However, hirsutism was particularly severe and both serum androgens and 17-hydroxyprogesterone were elevated. The patient was heterozygote for a large conversion of CYP21 gene. In these cases, the clinical and biochemical expression of Cushing's syndrome was determined by the different severity of 21-hydroxylase deficiency and the subsequent residual ability of adrenal cortex to synthesize cortisol.
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Baum, Sven Holger; Mohr, Christopher
2018-06-01
The aim of this study was to evaluate which primary tumours metastasize on the head and neck region, identify the kind of clinical manifestation, the types of diagnostics that should be performed, and prove that the therapy appears possible and useful. As many as 91 patients with a distant metastasis on the head and neck were enrolled in this retrospective clinical study from January 2004 to September 2016. All the patients were evaluated for clinical symptoms, primary tumour, localization, diagnostics, and surgical procedure. A total of 31 patients had asymptomatic swelling, 27 patients had symptomatic swelling, and nine experienced isolated pain without swelling. Most other symptoms were organ-specific. The most frequent localizations were the orbit (44 metastases), mandible (19), neck region (9), and skin (7). The most common primary tumours were breast carcinoma (44), bronchial carcinoma (12), and renal carcinoma (9). A biopsy was performed on 38 patients, a partial resection was done on 28 patients, extirpation on six patients, and a radical resection on 19 patients. Distant metastases on the head and neck are rare and, therefore, pose a challenge for the oncologist and other involved disciplines. Most distant metastases occur within the first five years. Late metastases, especially in breast carcinoma, are still possible after 20 years. A surgical examination should be carried out if the findings are not clear due to multiple differential diagnoses. In particular, surgical options under palliative aspects should be examined.
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Man, Limor; Lekovich, Jovana; Rosenwaks, Zev; Gerhardt, Jeannine
2017-01-01
Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism. A full mutation (FM) is represented by more than 200 CGG repeats within the FMR1 gene, resulting in FXS. A FM is inherited from women carrying a FM or a premutation (PM; 55-200 CGG repeats) allele. PM is associated with phenotypes distinct from those associated with FM. Some manifestations of the PM are unique; fragile-X-associated tremor/ataxia syndrome (FXTAS), and fragile-X-associated primary ovarian insufficiency (FXPOI), while others tend to be non-specific such as intellectual disability. In addition, women carrying a PM may suffer from subfertility or infertility. There is a need to elucidate whether the impairment of ovarian function found in PM carriers arises during the primordial germ cell (PGC) development stage, or due to a rapidly diminishing oocyte pool throughout life or even both. Due to the possibility of expansion into a FM in the next generation, and other ramifications, carrying a PM can have an enormous impact on one's life; therefore, preconception counseling for couples carrying the PM is of paramount importance. In this review, we will elaborate on the clinical manifestations in female PM carriers and propose the definition of fragile-X-associated diminished ovarian reserve (FXDOR), then we will review recent scientific findings regarding possible mechanisms leading to FXDOR and FXPOI. Lastly, we will discuss counseling, preventative measures and interventions available for women carrying a PM regarding different aspects of their reproductive life, fertility treatment, pregnancy, prenatal testing, contraception and fertility preservation options.
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Man, Limor; Lekovich, Jovana; Rosenwaks, Zev; Gerhardt, Jeannine
2017-01-01
Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism. A full mutation (FM) is represented by more than 200 CGG repeats within the FMR1 gene, resulting in FXS. A FM is inherited from women carrying a FM or a premutation (PM; 55–200 CGG repeats) allele. PM is associated with phenotypes distinct from those associated with FM. Some manifestations of the PM are unique; fragile-X-associated tremor/ataxia syndrome (FXTAS), and fragile-X-associated primary ovarian insufficiency (FXPOI), while others tend to be non-specific such as intellectual disability. In addition, women carrying a PM may suffer from subfertility or infertility. There is a need to elucidate whether the impairment of ovarian function found in PM carriers arises during the primordial germ cell (PGC) development stage, or due to a rapidly diminishing oocyte pool throughout life or even both. Due to the possibility of expansion into a FM in the next generation, and other ramifications, carrying a PM can have an enormous impact on one’s life; therefore, preconception counseling for couples carrying the PM is of paramount importance. In this review, we will elaborate on the clinical manifestations in female PM carriers and propose the definition of fragile-X-associated diminished ovarian reserve (FXDOR), then we will review recent scientific findings regarding possible mechanisms leading to FXDOR and FXPOI. Lastly, we will discuss counseling, preventative measures and interventions available for women carrying a PM regarding different aspects of their reproductive life, fertility treatment, pregnancy, prenatal testing, contraception and fertility preservation options. PMID:28955201
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[Clinical manifestations and hazards of brucellosis in the Netherlands].
Kaan, Jan A; Frakking, Florine N J; Arents, Nicolaas L A; Anten, Sander; Roest, Hendrik I J; Rothbarth, Ph H Flip
2012-01-01
Brucellosis, a zoonotic infection characterised by undulant fever, has a low incidence in the Netherlands and is therefore rarely considered. We describe 3 patients aged 26, 47 and 56 years old; each presented with long-standing fever as predominant symptom after having travelled to an endemic area, Iraq or Turkey, 1 week to 4 months prior to manifestation of illness. They had similar symptoms: fever, weight loss, chills, night sweats and dry cough. Blood cultures of all patients became positive for gram-negative rods after 3-4 days of incubation. One patient had imported and consumed sheep-milk cheese from which a genetically indistinguishable Brucella strain was cultured. In another patient, identification of the bacterium proved difficult, resulting in delayed prescription of adequate antibiotic treatment. Serologic testing confirmed the diagnosis in this case. In the laboratory, there is a considerable risk of airborne transmission of the disease necessitating clear notification of the suspicion of brucellosis when material for culturing is submitted.
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The earliest direct evidence of frogs in wet tropical forests from Cretaceous Burmese amber.
Xing, Lida; Stanley, Edward L; Bai, Ming; Blackburn, David C
2018-06-14
Frogs are a familiar and diverse component of tropical forests around the world. Yet there is little direct evidence from the fossil record for the antiquity of this association. We describe four fossil frog specimens from mid-Cretaceous (~99 mya) amber deposits from Kachin State, Myanmar for which the associated fauna provides rich paleoenvironmental context. Microcomputed tomographic analysis provides detailed three-dimensional anatomy for these small frogs, which is generally unavailable for articulated anurans in the Mesozoic. These crown-group anuran specimens provide the earliest direct evidence for anurans in a wet tropical forest. Based on a distinct combination of skeletal characters, at least one specimen has clear similarities to living alytoid frogs as well as several Mesozoic taxa known from the Jehol Biota in China. Whereas many Mesozoic frogs are from seasonal and mesic paleoenvironments, these fossils provide the earliest direct evidence of anurans in wet tropical forests.
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Birth to Three Matters: A Framework to Support Children in Their Earliest Years
ERIC Educational Resources Information Center
Abbott, Lesley; Langston, Ann
2005-01-01
Government commitment to the care and education of children from birth to three years in England led to the commissioning in 2001 of "a framework of best practice" (DfEE, 2001:24) to support children in their earliest years. The resulting framework of "effective" practice, together with supporting materials, was developed by a…
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Chloracne. Clinical manifestations and etiology
DOE Office of Scientific and Technical Information (OSTI.GOV)
Zugerman, C.
1990-01-01
Chloracne is a rare but important acneiform eruption often associated with the ingestion of chlorinated phenolic agents such as dioxins with subsequent toxicity from these chemicals. Clinically, chloracne can be distinguished from acne vulgaris by the distribution and appearance of the lesions and by taking a detailed history. In some instances, it may be associated with particularly xerotic skin, pigmentation, follicular hyperkeratosis, conjunctivitis, and actinic elastosis. Histologically, the primary lesion is a follicular plug containing keratinous material. Chloracne is difficult if not impossible to treat adequately and once present, may persist for years. Consequently, good hygiene, safe manufacturing processes somore » that no inhalation or skin contact is possible, and the elimination of atmospheric contamination are all necessary in the prevention of this potentially debilitating disease.34 references.« less
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Orliac, M. J.; Gilissen, E.
2012-01-01
The study of brain evolution, particularly that of the neocortex, is of primary interest because it directly relates to how behavioural variations arose both between and within mammalian groups. Artiodactyla is one of the most diverse mammalian clades. However, the first 10 Myr of their brain evolution has remained undocumented so far. Here, we used high-resolution X-ray computed tomography to investigate the endocranial cast of Diacodexis ilicis of earliest Eocene age. Its virtual reconstruction provides unprecedented access to both metric parameters and fine anatomy of the most complete endocast of the earliest artiodactyl. This picture is assessed in a broad comparative context by reconstructing endocasts of 14 other Early and Middle Eocene representatives of basal artiodactyls, allowing the tracking of the neocortical structure of artiodactyls back to its simplest pattern. We show that the earliest artiodactyls share a simple neocortical pattern, so far never observed in other ungulates, with an almond-shaped gyrus instead of parallel sulci as previously hypothesized. Our results demonstrate that artiodactyls experienced a tardy pulse of encephalization during the Late Neogene, well after the onset of cortical complexity increase. Comparisons with Eocene perissodactyls show that the latter reached a high level of cortical complexity earlier than the artiodactyls. PMID:22764165
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Lahoti, Sonal; Rao, Kavita; Umadevi, H S; Mishra, Lakshmi
2017-01-01
As the search for reliable clinical indicators for management of human immunodeficiency virus/AIDS continues, mucocutaneous manifestations of HIV are considered among key clinical indicators for prediction of underlying degree of immunosuppression, systemic opportunistic infections, and disease progression. (1) To study the prevalence of mucocutaneous manifestations in HIV-seropositive patients attending the ART center of our hospital (2) To correlate mucocutaneous manifestations with CD4 cell counts. A total of 200 HIV-seropositive patients of adult age group visiting our hospital were included in the study. Information on demographics such as age, sex, transmission route, socioeconomic status, educational status, CD4 counts, and mucocutaneous findings was collected through interview administered survey and case records followed by oral and cutaneous examination. Mean CD4 cell count of asymptomatic HIV/AIDS patients was 580.96 cells/mm3. In comparison with the CD4 cell count of asymptomatic HIV-positive patients, (mean 580.96 cells/mm3) CD4 cell count of HIV-positive patients with various mucocutaneous manifestations (mean 409.65 cells/mm3) was correlated using student t-test and was statistically significant (P = 0.017). This study revealed maximum mucocutaneous lesions in the CD4 count range of 200-500. Nail changes accounted for the most common cutaneous manifestation with 53%, and pigmentation accounted for the most common oral manifestation with 39%. Mucocutaneous manifestations can arouse one to suspect the diagnosis of HIV infection in an otherwise healthy unwary patient. They can serve as a dependable marker of HIV disease.
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Dermatologic manifestations of endocrine disorders
Lause, Michael; Kamboj, Alisha
2017-01-01
The skin serves as a window for clinicians to understand, diagnose, and monitor endocrine disease. Dermatologic manifestations of endocrinopathies contribute significantly to an individual’s health and quality of life. In this review, we outline various disorders of the hypothalamic-pituitary axis, thyroid gland, pancreas, adrenal gland, and androgen axis as well as hereditary endocrine syndromes. In acromegaly, glycosaminoglycan deposition contributes to a thickening of skin and soft tissue, which manifests as coarsening and enlargement of facial and acral structures. Stimulation of the thyrotropin receptor in hyperthyroidism results in mesenchymal tissue proliferation and consequent pretibial myxedema; other associated cutaneous features include onycholysis, and hyperhidrosis. Individuals with hypothyroidism exhibit cold, dry skin and brittle hair as well as a jaundice-like appearance due to carotene excess. The cutaneous features of diabetes mellitus (DM), mediated to a large extent by hyperglycemia and hyperinsulinemia, include necrobiosis lipoidica diabeticorum (NLD), diabetic dermopathy, and acanthosis nigricans. Pediatric patients with Cushing’s syndrome almost invariably present with truncal obesity and growth retardation; disruption of collagen formation and the catabolic effects of hypercortisolism result in skin atrophy and purple abdominal striae. In patients with Addison’s disease, generalized hyperpigmentation, secondary to elevated levels of melanocyte-stimulating hormone (MSH), is most prominent in sun-exposed areas. Due to hyperandrogenism, individuals with polycystic ovarian syndrome (PCOS) often exhibit hirsutism, acne vulgaris, and androgenetic alopecia. In multiple endocrine neoplasia (MEN) syndromes, specific gene mutations may lead to angiofibromas, lichen amyloidosis, and ganglioneuromas. Disruptions of immune regulation result in autoimmune polyglandular syndromes (APS) and associated clinical features including chronic mucocutaneous
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Using dreams to assess clinical change during treatment.
Glucksman, Myron L; Kramer, Milton
2004-01-01
This article describes several studies that examine the relationship between the manifest content of selected dreams reported by patients and their clinical progress during psychoanalytic and psychodynamically oriented treatment. There are a number of elements that dreaming and psychotherapy have in common: affect regulation; conflict resolution; problem-solving; self-awareness; mastery and adaptation. Four different studies examined the relationship between the manifest content of selected dreams and clinical progress during treatment. In each study, the ratings of manifest content and clinical progress by independent observers were rank-ordered and compared. In three of the four studies there was a significant correlation between the rankings of manifest content and the rankings of clinical progress. This finding suggests that the manifest content of dreams can be used as an independent variable to assess clinical progress during psychoanalytic and psychodynamically oriented treatment.
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Earliest Archaeological Evidence of Persistent Hominin Carnivory
Ferraro, Joseph V.; Plummer, Thomas W.; Pobiner, Briana L.; Oliver, James S.; Bishop, Laura C.; Braun, David R.; Ditchfield, Peter W.; Seaman, John W.; Binetti, Katie M.; Seaman, John W.; Hertel, Fritz; Potts, Richard
2013-01-01
The emergence of lithic technology by ∼2.6 million years ago (Ma) is often interpreted as a correlate of increasingly recurrent hominin acquisition and consumption of animal remains. Associated faunal evidence, however, is poorly preserved prior to ∼1.8 Ma, limiting our understanding of early archaeological (Oldowan) hominin carnivory. Here, we detail three large well-preserved zooarchaeological assemblages from Kanjera South, Kenya. The assemblages date to ∼2.0 Ma, pre-dating all previously published archaeofaunas of appreciable size. At Kanjera, there is clear evidence that Oldowan hominins acquired and processed numerous, relatively complete, small ungulate carcasses. Moreover, they had at least occasional access to the fleshed remains of larger, wildebeest-sized animals. The overall record of hominin activities is consistent through the stratified sequence – spanning hundreds to thousands of years – and provides the earliest archaeological evidence of sustained hominin involvement with fleshed animal remains (i.e., persistent carnivory), a foraging adaptation central to many models of hominin evolution. PMID:23637995
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Assessment and manifestation of central sensitisation across different chronic pain conditions.
Arendt-Nielsen, L; Morlion, B; Perrot, S; Dahan, A; Dickenson, A; Kress, H G; Wells, C; Bouhassira, D; Mohr Drewes, A
2018-02-01
Different neuroplastic processes can occur along the nociceptive pathways and may be important in the transition from acute to chronic pain and for diagnosis and development of optimal management strategies. The neuroplastic processes may result in gain (sensitisation) or loss (desensitisation) of function in relation to the incoming nociceptive signals. Such processes play important roles in chronic pain, and although the clinical manifestations differ across condition processes, they share some common mechanistic features. The fundamental understanding and quantitative assessment of particularly some of the central sensitisation mechanisms can be translated from preclinical studies into the clinic. The clinical perspectives are implementation of such novel information into diagnostics, mechanistic phenotyping, prevention, personalised treatment, and drug development. The aims of this paper are to introduce and discuss (1) some common fundamental central pain mechanisms, (2) how they may translate into the clinical signs and symptoms across different chronic pain conditions, (3) how to evaluate gain and loss of function using quantitative pain assessment tools, and (4) the implications for optimising prevention and management of pain. The chronic pain conditions selected for the paper are neuropathic pain in general, musculoskeletal pain (chronic low back pain and osteoarthritic pain in particular), and visceral pain (irritable bowel syndrome in particular). The translational mechanisms addressed are local and widespread sensitisation, central summation, and descending pain modulation. Central sensitisation is an important manifestation involved in many different chronic pain conditions. Central sensitisation can be different to assess and evaluate as the manifestations vary from pain condition to pain condition. Understanding central sensitisation may promote better profiling and diagnosis of pain patients and development of new regimes for mechanism based
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The MANIFEST prototyping design study
NASA Astrophysics Data System (ADS)
Lawrence, Jonathan S.; Ben-Ami, Sagi; Brown, David M.; Brown, Rebecca A.; Case, Scott; Chapman, Steve; Churilov, Vladimir; Colless, Matthew; Content, Robert; Depoy, Darren; Evans, Ian; Farrell, Tony; Goodwin, Michael; Jacoby, George; Klauser, Urs; Kuehn, Kyler; Lorente, Nuria P. F.; Mali, Slavko; Marshall, Jennifer; Muller, Rolf; Nichani, Vijay; Pai, Naveen; Prochaska, Travis; Saunders, Will; Schmidt, Luke; Shortridge, Keith; Staszak, Nicholas F.; Szentgyorgyi, Andrew; Tims, Julia; Vuong, Minh V.; Waller, Lewis G.; Zhelem, Ross
2016-08-01
MANIFEST is a facility multi-object fibre system for the Giant Magellan Telescope, which uses `Starbug' fibre positioning robots. MANIFEST, when coupled to the telescope's planned seeing-limited instruments, GMACS, and G-CLEF, offers access to: larger fields of view; higher multiplex gains; versatile reformatting of the focal plane via IFUs; image-slicers; and in some cases higher spatial and spectral resolution. The Prototyping Design Study phase for MANIFEST, nearing completion, has focused on developing a working prototype of a Starbugs system, called TAIPAN, for the UK Schmidt Telescope, which will conduct a stellar and galaxy survey of the Southern sky. The Prototyping Design Study has also included work on the GMT instrument interfaces. In this paper, we outline the instrument design features of TAIPAN, highlight the modifications that will be necessary for the MANIFEST implementation, and provide an update on the MANIFEST/instrument interfaces.
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Cardiovascular manifestations of Alkaptonuria.
Pettit, Stephen J; Fisher, Michael; Gallagher, James A; Ranganath, Lakshminarayan R
2011-12-01
The cardiovascular manifestations of alkaptonuria relate to deposition of ochronotic pigment within heart valves, endocardium, aortic intima and coronary arteries. We assessed 16 individuals with alkaptonuria for cardiovascular disease, including full electrocardiographic and echocardiographic assessment. The self reported prevalence of valvular heart disease and coronary artery disease was low. There was a significant burden of previously undiagnosed aortic valve disease, reaching a prevalence of over 40% by the fifth decade of life. The aortic valve disease was found to increase in both prevalence and severity with advancing age. In contrast to previous reports, we did not find a significant burden of mitral valve disease or coronary artery disease. These findings are important for the clinical follow-up of patients with alkaptonuria and suggest a role for echocardiographic surveillance of patients above 40 years old.
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Cui, Shi-Shuang; Ren, Ru-Jing; Wang, Ying; Wang, Gang; Chen, Sheng-Di
2017-08-08
Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical. A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients. The most prevalent symptoms are ataxia, and two cases reported that tics as initial and prominent manifestation in JHD. Among them, 88% patients carried CAG repeats beyond 60 and most of them have family history. This case here illustrates the variable range of clinical symptoms of JHD and the necessity of testing for the HD mutation in young patients with tics with symptoms unable to be explained by Tourette's syndrome (TS).
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Shahrami, Seyedeh Hajar; Abbasi Ranjbar, Zahra; Milani, Forozan; Kezem-Nejad, Ehsan; Hassanzadeh Rad, Afagh; Dalil Heirat, Seyedeh Fatemeh
2016-02-01
Critical issue regarding to variation of findings based on different phenotypes led investigators to define whether they are distinct features or overlapping ones. Therefore, we aimed to investigate the association between diverse phenotypes of PCOS (Poly Cystic Ovary Syndrome) with clinical manifestations, anthropometric indices, and metabolic characteristics. This was a descriptive cross-sectional study conducted in 15-39 years old women with PCOS referred to infertility clinics in the north part of Iran, Rasht during 2010-2011. Data were gathered through an interview by a form consisted of demographic characteristics, laboratory findings, ovarian volume and anthropometric indices. A total of 214 patients consisted of 161 PCOS (cases) and 53 normal women (controls) participated in this study. The most prevalent phenotype in PCOS population was IM/PCO/HA (54%), followed by IM/HA (28%) and IM/PCO (13%). PCO/HA was present only in 6 PCOS patients (5%). PCOS patients were significantly younger than controls (P=0.07). Results showed that increased ovarian volume were higher in PCOS group in comparison with controls and IM/PCO/HA, and IM/PCO had respectively the largest ovarian volumes. Also, a significant relation was observed based on Cholesterol, 17OHP, LH, TG, 2hpp, and LH/FSH between patients with PCOS and control groups. There were significant differences in demographic, anthropometric, hormonal and ultrasound findings between PCOS and controls. Therefore, it seems that classification of the characteristics of each phenotype could offer an appropriate guide for screening risks of PCOS and may facilitate performing most favorable treatment for these complications.
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Lysosomal Storage Disorders in the Newborn
Staretz-Chacham, Orna; Lang, Tess C.; LaMarca, Mary E.; Krasnewich, Donna; Sidransky, Ellen
2009-01-01
Lysosomal storage disorders are rare inborn errors of metabolism, with a combined incidence of 1 in 1500 to 7000 live births. These relatively rare disorders are seldom considered when evaluating a sick newborn. A significant number of the >50 different lysosomal storage disorders, however, do manifest in the neonatal period and should be part of the differential diagnosis of several perinatal phenotypes. We review the earliest clinical features, diagnostic tests, and treatment options for lysosomal storage disorders that can present in the newborn. Although many of the lysosomal storage disorders are characterized by a range in phenotypes, the focus of this review is on the specific symptoms and clinical findings that present in the perinatal period, including neurologic, respiratory, endocrine, and cardiovascular manifestations, dysmorphic features, hepatosplenomegaly, skin or ocular involvement, and hydrops fetalis/congenital ascites. A greater awareness of these features may help to reduce misdiagnosis and promote the early detection of lysosomal storage disorders. Implementing therapy at the earliest stage possible is crucial for several of the lysosomal storage disorders; hence, an early appreciation of these disorders by physicians who treat newborns is essential. PMID:19336380
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Echocardiographic manifestations of Adamantiades-Behcet's disease.
Leibowitz, David; Planer, David; Chajek-Shaul, Tova
2007-12-01
Adamantiades-Behcet disease (ABD) is a multisystemic, chronic inflammatory disorder of unknown etiology with diffuse clinical manifestations including those involving the cardiovascular system. While the disease is most prevalent in the Mediterranean region, the Middle East and the Far East, its prevalence is increasing in Western countries due to migration patterns. Cardiovascular involvement in ABD may include myocardial disease, venous disease and disease of the aorta and great vessels. Use of echocardiography in these patients is crucial to assess their pathology and in this article we review the spectrum of echocardiographic findings in patients with ABD.
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Roddy, Paul; Howard, Natasha; Van Kerkhove, Maria D.; Lutwama, Julius; Wamala, Joseph; Yoti, Zabulon; Colebunders, Robert; Palma, Pedro Pablo; Sterk, Esther; Jeffs, Benjamin; Van Herp, Michel; Borchert, Matthias
2012-01-01
A confirmed Ebola haemorrhagic fever (EHF) outbreak in Bundibugyo, Uganda, November 2007–February 2008, was caused by a putative new species (Bundibugyo ebolavirus). It included 93 putative cases, 56 laboratory-confirmed cases, and 37 deaths (CFR = 25%). Study objectives are to describe clinical manifestations and case management for 26 hospitalised laboratory-confirmed EHF patients. Clinical findings are congruous with previously reported EHF infections. The most frequently experienced symptoms were non-bloody diarrhoea (81%), severe headache (81%), and asthenia (77%). Seven patients reported or were observed with haemorrhagic symptoms, six of whom died. Ebola care remains difficult due to the resource-poor setting of outbreaks and the infection-control procedures required. However, quality data collection is essential to evaluate case definitions and therapeutic interventions, and needs improvement in future epidemics. Organizations usually involved in EHF case management have a particular responsibility in this respect. PMID:23285243
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Thornton, Erin Kennedy; Emery, Kitty F.; Steadman, David W.; Speller, Camilla; Matheny, Ray; Yang, Dongya
2012-01-01
Late Preclassic (300 BC–AD 100) turkey remains identified at the archaeological site of El Mirador (Petén, Guatemala) represent the earliest evidence of the Mexican turkey (Meleagris gallopavo) in the ancient Maya world. Archaeological, zooarchaeological, and ancient DNA evidence combine to confirm the identification and context. The natural pre-Hispanic range of the Mexican turkey does not extend south of central Mexico, making the species non-local to the Maya area where another species, the ocellated turkey (Meleagris ocellata), is indigenous. Prior to this discovery, the earliest evidence of M. gallopavo in the Maya area dated to approximately one thousand years later. The El Mirador specimens therefore represent previously unrecorded Preclassic exchange of animals from northern Mesoamerica to the Maya cultural region. As the earliest evidence of M. gallopavo found outside its natural geographic range, the El Mirador turkeys also represent the earliest indirect evidence for Mesoamerican turkey rearing or domestication. The presence of male, female and sub-adult turkeys, and reduced flight morphology further suggests that the El Mirador turkeys were raised in captivity. This supports an argument for the origins of turkey husbandry or at least captive rearing in the Preclassic. PMID:22905156
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Thornton, Erin Kennedy; Emery, Kitty F; Steadman, David W; Speller, Camilla; Matheny, Ray; Yang, Dongya
2012-01-01
Late Preclassic (300 BC-AD 100) turkey remains identified at the archaeological site of El Mirador (Petén, Guatemala) represent the earliest evidence of the Mexican turkey (Meleagris gallopavo) in the ancient Maya world. Archaeological, zooarchaeological, and ancient DNA evidence combine to confirm the identification and context. The natural pre-Hispanic range of the Mexican turkey does not extend south of central Mexico, making the species non-local to the Maya area where another species, the ocellated turkey (Meleagris ocellata), is indigenous. Prior to this discovery, the earliest evidence of M. gallopavo in the Maya area dated to approximately one thousand years later. The El Mirador specimens therefore represent previously unrecorded Preclassic exchange of animals from northern Mesoamerica to the Maya cultural region. As the earliest evidence of M. gallopavo found outside its natural geographic range, the El Mirador turkeys also represent the earliest indirect evidence for Mesoamerican turkey rearing or domestication. The presence of male, female and sub-adult turkeys, and reduced flight morphology further suggests that the El Mirador turkeys were raised in captivity. This supports an argument for the origins of turkey husbandry or at least captive rearing in the Preclassic.
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Neurological manifestations of Ehlers-Danlos syndrome(s): A review
Castori, Marco; C. Voermans, Nicol
2014-01-01
The term “Ehlers-Danlos syndrome” (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with abnormal skin texture and repair, and variable range of the hollow organ and vascular dysfunctions. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias. Here, a comprehensive overview of neurological findings of these conditions is presented primarily intended for the clinical neurologist. Features are organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral. A set of basic tools for patient’s recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders. PMID:25632331
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Psychiatric manifestations of 22q11.2 deletion syndrome: a literature review.
Bertrán, M; Tagle, F P; Irarrázaval, M
2018-03-01
The 22q11.2 deletion syndrome is a genetic disorder with variable clinical manifestations. It affects one out of 5950 neonates and has an autosomal dominant inheritance pattern. The aim of this article is to review its psychiatric manifestations and any underlying genetic alterations. We reviewed the scientific literature available as of October 2014 in the LILACS and Medline databases. Sixty per cent of these patients fulfilled diagnostic criteria for a mental disorder at some point in their lives, referring to psychotic disorders, attention deficit hyperactivity disorder, mood disorders, anxiety disorders, and autism spectrum disorders. Specific genes, such as COMT and PRODH, have been linked to these psychiatric manifestations. It is necessary to raise awareness among all health care professionals so that they understand the relevance of these manifestations, are able to anticipate them, and can provide appropriate information to patients and family members. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.
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Oral Manifestations in Pediatric Patients with Coeliac Disease – A Review Article
Macho, Viviana Marisa Pereira; Coelho, Ana Sofia; Veloso e Silva, Diana Maria; de Andrade, David José Casimiro
2017-01-01
Background: Coeliac disease is a chronic enteropathy that remains a challenge for the clinician, due to its atypical manifestations and etiopathogenic complexity. Objective: This article intends to describe the oral characteristics of Coeliac Disease in children in order to facilitate their management in the dental office. Methods: A review of the literature was performed electronically in PubMed (PubMed Central, and MEDLINE) for articles published in English from 2000 to April of 2017. The article is also based on the authors' clinical experience with children with coeliac disease. The searched keywords were “coeliac disease “,”oral manifestations “, “dental enamel defects”, “recurrent aphthous stomatitis” and “oral aphthous ulcers”. Results: There are some oral manifestations which are strictly related to coeliac disease: dental enamel defects, recurrent aphthous stomatitis, delayed tooth eruption, multiple caries, angular cheilitis, atrophic glossitis, dry mouth and burning tongue. Conclusion: The complete knowledge of the oral manifestations of coeliac disease can trigger an effective change in the quality of life of the patients with this disease. PMID:29238414
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Anophthalmia: an uncommon manifestation of neurofibromatosis type 1.
Chen, Sheng; Pu, Jia-Li; Zhang, Jian-Min; Hong, Yuan
2011-11-01
Neurofibromatosis type 1 (NF-1) is an autosomal dominant, multisystem disorder, affecting approximately 1 of 3500 people. Ocular disorders, such as Lisch nodules, optic gliomas, and anterior segment defects, are typical with clinical presentation. Anophthalmia, as a rare eye malformation, has never been reported in patients with NF-1. We report a 27-year-old patient in whom clinical manifestations of café au lait spots, neurofibromas, osseous orbital dysplasia, and anophthalmia were observed. The diagnosis of NF-1 was made, according to clinical course and brain computed tomography and magnetic resonance imaging. Because the patient refused aggressive management approaches, she was managed conservatively and is well on follow-up. We suggest that patients presenting with anophthalmia need serious evaluation and that NF-1 needs to be considered in the differential diagnosis.
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Bathla, G; Watal, P; Gupta, S; Nagpal, P; Mohan, S; Moritani, T
2017-12-28
Involvement of the central nervous system by sarcoidosis, also referred to as neurosarcoidosis, is seen clinically in about 5% of patients with systemic disease. CNS involvement most frequently affects the leptomeninges and cranial nerves, though the ventricular system, brain parenchyma, and pachymeninges may also be involved. Even though the involvement of the intracranial vascular structures is well-known on postmortem studies, there is scant literature on imaging manifestations secondary to the vessel wall involvement, being confined mostly to isolated case reports and small series. The authors present a review of various cerebrovascular manifestations of neurosarcoidosis, along with a brief synopsis of the existing literature. © 2018 by American Journal of Neuroradiology.
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Labrador-Horrillo, M; Martinez-Valle, F; Gallardo, E; Rojas-Garcia, R; Ordi-Ros, J; Vilardell, M
2012-05-01
Anti-ganglioside antibodies (AGA) have been associated with several peripheral neuropathies, such as Miller-Fisher syndrome, Guillain-Barré syndrome and multifocal motor neuropathy. They have also been studied in patients with systemic lupus erythematosus (SLE), focusing on neuropsychiatric manifestations and peripheral neuropathy, but the results are contradictory. To study the presence of AGA in a large cohort of patients with SLE and neuropsychiatric manifestations. Serum from 65 consecutive patients with SLE and neuropsychiatric manifestations, collected from 1985 to 2009, was tested for the presence of AGA antibodies (GM1, GM2, GM3, asialo-GM1 GD1a, GD1b, GD3, GT1b, GQ1b) using a standard enzyme-linked immunosorbent assay ELISA test (INCAT 1999) and thin layer chromatography (TLC). Positive results for asialo-GM1 (IgM) were found in 10 patients, 6 were positive for asialo-GM1 (IgM and IgG), and 4 were positive for other AGA such as GM1, GM2, GM3, GD1b, GT1b, GD3, (mainly IgM). Clinical and statistical studies showed no correlation between AGA and neuropsychiatric manifestations of SLE. Although some patients showed reactivity to AGA, these antibodies are not a useful marker of neuropsychiatric manifestations in SLE patients.
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Sugiyama, Nawa; Somerville, Andrew D; Schoeninger, Margaret J
2015-01-01
From Roman gladiatorial combat to Egyptian animal mummies, the capture and manipulation of carnivores was instrumental in helping to shape social hierarchies throughout the ancient world. This paper investigates the historical inflection point when humans began to control animals not only as alimental resources but as ritual symbols and social actors in the New World. At Teotihuacan (A.D. 1-550), one of the largest pre-Hispanic cities, animal remains were integral components of ritual caches expressing state ideology and militarism during the construction of the Moon and the Sun Pyramids. The caches contain the remains of nearly 200 carnivorous animals, human sacrificial victims and other symbolic artifacts. This paper argues the presence of skeletal pathologies of infectious disease and injuries manifest on the carnivore remains show direct evidence of captivity. Stable isotope analysis (δ13C and δ15N) of bones and teeth confirms that some of these carnivores were consuming high levels of C4 foods, likely reflecting a maize-based anthropocentric food chain. These results push back the antiquity of keeping captive carnivores for ritualistic purposes nearly 1000 years before the Spanish conquistadors described Moctezuma's zoo at the Aztec capital. Mirroring these documents the results indicate a select group of carnivores at Teotihuacan may have been fed maize-eating omnivores, such as dogs and humans. Unlike historical records, the present study provides the earliest and direct archaeological evidence for this practice in Mesoamerica. It also represents the first systematic isotopic exploration of a population of archaeological eagles (n = 24) and felids (n = 29).
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Sugiyama, Nawa; Somerville, Andrew D.; Schoeninger, Margaret J.
2015-01-01
From Roman gladiatorial combat to Egyptian animal mummies, the capture and manipulation of carnivores was instrumental in helping to shape social hierarchies throughout the ancient world. This paper investigates the historical inflection point when humans began to control animals not only as alimental resources but as ritual symbols and social actors in the New World. At Teotihuacan (A.D. 1–550), one of the largest pre-Hispanic cities, animal remains were integral components of ritual caches expressing state ideology and militarism during the construction of the Moon and the Sun Pyramids. The caches contain the remains of nearly 200 carnivorous animals, human sacrificial victims and other symbolic artifacts. This paper argues the presence of skeletal pathologies of infectious disease and injuries manifest on the carnivore remains show direct evidence of captivity. Stable isotope analysis (δ13C and δ15N) of bones and teeth confirms that some of these carnivores were consuming high levels of C4 foods, likely reflecting a maize-based anthropocentric food chain. These results push back the antiquity of keeping captive carnivores for ritualistic purposes nearly 1000 years before the Spanish conquistadors described Moctezuma’s zoo at the Aztec capital. Mirroring these documents the results indicate a select group of carnivores at Teotihuacan may have been fed maize-eating omnivores, such as dogs and humans. Unlike historical records, the present study provides the earliest and direct archaeological evidence for this practice in Mesoamerica. It also represents the first systematic isotopic exploration of a population of archaeological eagles (n = 24) and felids (n = 29). PMID:26332042
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Deb, Prabal; Pal, Seerat; Dutta, Vibha; Srivastava, Anand; Bhargava, Akshay; Yadav, Krishan Kumar
2012-09-01
Adrenal haemangioblastoma presenting clinically as pheochromocytoma is a rare manifestation of extraneural haemangioblastoma. We present an unusual case of von Hippel-Lindau (VHL) disease that had adrenal and cerebellar haemangioblastoma with multiple renal cysts, and a review of the literature. Unlike the usual manifestations of secondary polycythemia or increased intracranial pressure and hydrocephalus due to cerebellar lesion, this 36-year-old male presented with hypertension. Investigations revealed right suprarenal mass with raised urinary catecholamines and serum vanillylmandelic acid (VMA) levels, apparently confirming the clinical diagnosis of phaeochromocytoma. Histopathology of the biopsy specimen showed features of haemangioblastoma, which was confirmed by immunohistochemistry using antibodies to neuron specific enolase and aquaporin-1. Based on this, the patient was screened for possible features of VHL, which revealed cerebellar haemangioblastoma and multiple renal cysts with angiomatous lesion. Postoperative follow-up showed normal levels of catecholamines without any symptoms of phaeochromocytoma. Adrenal haemangioblastoma is a rare entity with only four cases reported in the literature. Surgical removal is the treatment of choice. However, screening for other possible features of VHL, even in the absence of clinical features, is essential to exclude other potential lesions.
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Neurologic manifestations of electrolyte disturbances.
Riggs, Jack E
2002-02-01
Electrolyte disturbances occur commonly and are associated with a variety of characteristic neurologic manifestations involving both the central and peripheral nervous systems. Electrolyte disturbances are essentially always secondary processes. Effective management requires identification and treatment of the underlying primary disorder. Since neurological symptoms of electrolyte disorders are generally functional rather than structural, the neurologic manifestations of electrolyte disturbances are typically reversible. The neurologic manifestations of serum sodium, potassium, calcium, and magnesium disturbances are reviewed.
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Chronic polyarthritis as isolated manifestation of toxocariasis.
Viola, Gabriela R; Giacomin, Maria Fernanda A; França, Camila M P; Sallum, Adriana M E; Jacob, Cristina M A; Silva, Clovis A
2016-01-01
Human toxocariasis is a parasitic zoonosis mainly caused by Toxocara canis or Toxocara cati and is acquired by ingestion of the parasite's embryonated eggs. Arthralgia and/or arthritis were reported in up to 17% of the cases, generally with acute duration (less than 6 weeks). However, to our knowledge, chronic polyarthritis, as the isolated presentation of Toxocara infection, was not reported. One of the 5809 patients that was followed up at our service (0.017%) had chronic polyarthritis as the single manifestation of toxocariasis and was described herein. A 3-year-old girl was referred to our service with severe painful chronic polyarthritis for a period longer than 10 weeks and morning stiffness of 30min. Dog contact exposure history in the recreational areas of neighborhood was reported. Her exams showed high levels of eosinophils in peripheral blood (29%), bone marrow aspirate revealed marked eosinophilia (32%) and Toxocara enzyme-linked immunosorbent assay (Elisa) was positive (1:1280). She was treated with paracetamol (40mg/kg/day) and thiabendazole (25mg/kg/day) for 10 days, and all manifestations reduced. After eight months of follow-up, she was on clinical and laboratorial remission. In conclusion, we described a case of chronic polyarthritis, as isolated manifestation of toxocariasis, mimicking juvenile idiopathic arthritis and leukemia. Importantly, this zoonosis should be considered in patients with arthritis and eosinophilia. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.
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Borghini, Alice; Poscia, Andrea; Bosello, Silvia; Teleman, Adele Anna; Bocci, Mario; Iodice, Lanfranco; Ferraccioli, Gianfranco; La Milìa, Daniele Ignazio; Moscato, Umberto
2017-10-26
Atmospheric air pollution has been associated with a range of adverse health effects. The environment plays a causative role in the development of Systemic Sclerosis (SSc). The aim of the present study is to explore the association between particulate (PM 10 ) and benzene (B) exposure in Italian patients with systemic sclerosis and their clinical characteristics of the disease. A correlation study was conducted by enrolling 88 patients who suffer from SSc at the Fondazione Policlinico "A. Gemelli" in Rome (Italy) in the period from January 2013 to January 2014. The average mean concentrations of B (in 11 monitoring sites) and PM 10 (in 14 sites) were calculated using data from the Regional Environmental Protection Agency's monitoring stations located throughout the Lazio region (Italy) and then correlated with the clinical characteristics of the SSc patients. Of the study sample, 92.5% were female. The mean age was 55 ± 12.9 years old and the mean disease duration from the onset of Raynaud's phenomenon was 13.0 ± 9.4 years. The Spearman's correlation showed that concentrations of B correlate directly with the skin score (R = 0.3; p ≤ 0.05) and inversely with Diffusing Lung Carbon Monoxide (DLCO) results (R = -0.36; p = 0.04). This study suggests a possible role of B in the development of diffuse skin disease and in a worse progression of the lung manifestations of SSc.
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Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions
DOE Office of Scientific and Technical Information (OSTI.GOV)
Scire, G.; Bonaiuto, F.; Galasso, C.
1994-10-01
We report on two adolescents with 22q11 deletion. Their main clinical manifestation was chronic symptomatic hypocalcemia secondary to hypoparathyroidism, together with seizures and cerebral calcifications. Neither congenital cardiac abnormality nor T cell deficiency were detected. The phenotypic manifestations of the observed patients were consistent with velo-cardiofacial syndrome (VCFS). A microdeletion of chromosome region 22q11 has been demonstrated in approximately 90% of DiGeorge syndrome (DGS) patients and in 75% of VCFS patients; the association of the deletion with a wide spectrum of clinical findings suggests the existence of a contiguous gene syndrome. The presence of certain traits of DGS/VCFS should leadmore » to investigations of parathtroid function and molecular analysis of the 22q11 region hybridization studies. 10 refs., 5 figs., 2 tabs.« less
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Morphological manifestations of the Dandy-Walker syndrom in female members of a family.
Titlić, Marina; Alfirević, Stanko; Kolić, Krešimir; Soldo, Anamarija; Tripalol, Ana Batoš
2015-03-01
The Dandy-Walker syndrome (DWS) is a hereditary disorder, appearing somewhat more frequently in women. The most important characteristics of the DWS are the lack of the cerebellar vermis, varying from a partial lack to a complete agenesis, and enlargement of the cerebrospinal spaces, especially in the fourth ventricle. The above mentioned morphological changes clinically manifest in ataxia, increased intracranial pressure and hydrocephalus. Here is presented a family with DWS, where the disease is contracted only by female members, in two generations, whereas no signs of DWS have been noticed in male family members. DWS is clinically manifested from early childhood to middle age, with the morphological changes varying from hypoplastic cerebellar vermis to widening of the brain ventricles and hydrocephalus and arachnoid cyst in the occipital part.
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40 CFR 761.215 - Manifest discrepancies.
Code of Federal Regulations, 2013 CFR
2013-07-01
... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.215 Manifest discrepancies. (a) Manifest... Section 761.215 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES... quantity or type of PCB waste designated on the manifest or shipping paper, and the quantity and type of...
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40 CFR 761.215 - Manifest discrepancies.
Code of Federal Regulations, 2014 CFR
2014-07-01
... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.215 Manifest discrepancies. (a) Manifest... Section 761.215 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES... quantity or type of PCB waste designated on the manifest or shipping paper, and the quantity and type of...
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The thalamus and multiple sclerosis: modern views on pathologic, imaging, and clinical aspects.
Minagar, Alireza; Barnett, Michael H; Benedict, Ralph H B; Pelletier, Daniel; Pirko, Istvan; Sahraian, Mohamad Ali; Frohman, Elliott; Zivadinov, Robert
2013-01-08
The paired thalamic nuclei are gray matter (GM) structures on both sides of the third ventricle that play major roles in cortical activation, relaying sensory information to the higher cortical centers that influence cognition. Multiple sclerosis (MS) is an immune-mediated disease of the human CNS that affects both the white matter (WM) and GM. A number of clinical observations as well as recent neuropathologic and neuroimaging studies have clearly demonstrated extensive involvement of the thalamus, basal ganglia, and neocortex in patients with MS. Modern MRI techniques permit visualization of GM lesions and measurement of atrophy. These contemporary methods have fundamentally altered our understanding of the pathophysiologic nature of MS. Evidence confirms the contention that GM injury can be detected in the earliest phases of MS, and that iron deposition and atrophy of deep gray nuclei are closely related to the magnitude of inflammation. Extensive involvement of GM, and particularly of the thalamus, is associated with a wide range of clinical manifestations including cognitive decline, motor deficits, fatigue, painful syndromes, and ocular motility disturbances in patients with MS. In this review, we characterize the neuropathologic, neuroimaging, and clinical features of thalamic involvement in MS. Further, we underscore the contention that neuropathologic and neuroimaging correlative investigations of thalamic derangements in MS may elucidate not heretofore considered pathobiological underpinnings germane to understanding the ontogeny, magnitude, and progression of the disease process.
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[«Man-in-the-barrel» syndrome: atypical manifestation of giant cell arteritis].
Calle-Lopez, Y; Fernandez-Ramirez, A F; Franco-Dager, E; Gomez-Lopera, J G; Vanegas-Garcia, A L
2018-06-01
«Man-in-the-barrel» syndrome refers to diplegia of the upper extremities in which mobility of the head and lower limbs is preserved. Brachial plexitis that presents as «man-in-the-barrel» syndrome is an unusual manifestation of giant cell arteritis. We report a case of C5-C6 plexitis as part of the clinical features of a patient with giant cell arteritis. A 70-year-old male with a two-month history of weight loss, headache, facial pain and jaw claudication, associated with a persistent elevation of acute phase reactants and bilateral brachial plexopathy, with no evidence of neck or brain injuries or occult neoplasm and with negative autoimmunity tests. Results of the biopsy study of the temporal artery were compatible with giant cell arteritis, and the positron emission tomography scan revealed extensive vascular involvement of the aorta and its branches. Although the typical clinical manifestations of giant cell arteritis are headache, jaw claudication, loss of sight, constitutional symptoms and polymyalgia rheumatica, its presence must be suspected in patients over the age of 50 who manifest alterations affecting the peripheral nerve, including brachial diplegia with no other demonstrable cause.
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[Respiratory manifestations of yellow nail syndrome: report of two cases and literature review].
Li, S; Huang, H; Xu, K; Xu, Z J
2018-03-12
Objective: To describe the clinical characteristics of respiratory manifestations of yellow nail syndrome. Methods: We conducted a retrospective analysis of 2 patients with respiratory diseases associated with yellow nail syndrome. Their clinical and chest radiological data were collected. We searched PubMed, Wanfang and CNKI databases with the keywords "yellow nail syndrome, yellow nail and lung" in Chinese and English. And the relevant literatures, including 6 articles in Chinese and 81 articles in English, were reviewed. Results: Our 2 patients were male, one 60 years old and the other 76. Typical yellow nails were present in their fingers, and one of them also showed toe yellow nails. One patient was admitted for refractory respiratory infection and he was diagnosed with diffuse bronchiectasis. The respiratory symptoms could be relieved with antibiotics according to the results of sputum microbiological analysis. The other patient was admitted for cough and exertional dyspnea, and refractory pleural effusions were revealed bilaterally. He received repeated effusion drainage by thoracentesis, and Octreotide was tried recently. A total of 373 cases were reviewed in Chinese and English literatures. Pleural effusions (152 cases) and diffuse bronchiectasis (121 cases) were the most common reported respiratory manifestations. Lymphoedema was present in almost all cases with pleural effusion associated with yellow nail syndrome, and the effusion was usually exudative and lymphocyte predominant. Pleurodesis and decortication were effective for them. But, somatostatin analogues had been tried effectively for these patients recently. On the other hand, literatures showed that diffuse bronchiectasis in yellow nail syndrome was less severe than idiopathic diffuse bronchiectasis, and might benefit from long-term macrolide antibiotics. Conclusions: Yellow nail syndrome is a very rare disorder. Besides yellow nail, respiratory manifestations are the main clinical
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Frequent Questions about e-Manifest
Frequently Asked Questions (FAQ) about e-Manifest covering these areas: scope, generators, receivers, manifest preparation & brokers, federal and state implementation, fee obligations, record retention, data policy, data correction, and user registration.
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Tubbs, R Shane; Malefant, Jason; Loukas, Marios; Jerry Oakes, W; Oskouian, Rod J; Fries, Fabian N
2016-05-01
The presence of a human tail is a rare and intriguing phenomenon. While cases have been reported in the literature, confusion remains with respect to the proper classification, definition, and treatment methods. We review the literature concerning this anatomical derailment. We also consider the importance of excluding underlying congenital anomalies in these patients to prevent neurological deficits and other abnormal manifestations. © 2016 Wiley Periodicals, Inc.
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Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
van Trier, Dorothée C; Vos, Anna M C; Draaijer, Renske W; van der Burgt, Ineke; Draaisma, Jos M Th; Cruysberg, Johannes R M
2016-10-01
To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). Prospective cross-sectional clinical and genetic study in a tertiary referral center. Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria. All patients were examined by the same team following a detailed study protocol. Genetic analyses were performed in 23 patients. Ocular abnormalities of vision and refraction, external ocular features, ocular position and motility, anterior segment, posterior segment, and intraocular pressure. Ocular features of vision and refraction were amblyopia (32%), myopia (40%), and astigmatism (52%). External ocular features were epicanthic folds (84%), hypertelorism (68%), ptosis (56%), high upper eyelid crease (64%), lower eyelid retraction (60%), abnormal upward slanting palpebral fissures (36%), downward slanting palpebral fissures (32%), and lagophthalmos (28%). Orthoptic abnormalities included strabismus (40%), abnormal stereopsis (44%), and limited ocular motility (40%). Anterior segment abnormalities included prominent corneal nerves (72%) and posterior embryotoxon (32%). Additional ocular features were found, including nonglaucomatous optic disc excavation (20%), relatively low (<10 mmHg) intraocular pressure (22%), and optic nerve hypoplasia (4%). Mutations were established in 22 patients: 19 PTPN11 mutations (76%), 1 SOS1 mutation, 1 BRAF mutation, and 1 KRAS mutation. The patient with the highest number of prominent corneal nerves had an SOS1 mutation. The patient with the lowest visual acuity, associated with bilateral optic nerve hypoplasia, had a BRAF mutation. Patients with severe ptosis and nearly total absence of levator muscle function had PTPN11 mutations. All patients showed at least 3 ocular features (range, 3-13; mean, 7), including at least 1 external ocular feature in more than 95% of the patients. Noonan syndrome is a clinical diagnosis with multiple
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2010-01-01
In the period of 3 years, 9 tumours of chemodectoma were supravitally diagnosed and histopathologically verified in dogs. In this period 15 351 dogs were admitted to the Clinic of Dogs and Cats and 2 145 dogs were examined in the cardiological outpatient clinic for dogs. This tumour is located in a typical place - at the base of the heart. Most frequently the tumour manifested in older boxers. Only in one case such a tumour was diagnosed in another breed of dogs. The tumours ranged in size between 3 and 16 cm in diameter. The principal sign accompanying tumours of cardiac base involved dyspnoea but in 3 cases the tumours yielded no clinical signs. All the diagnoses were additionally verified using immunohistochemical examination. We used antibodies to chromogranin A (clone DAK-A3 1:100), synaptophysin (clone SY38 1:20) and neuron-specific enolase (clone BBS/NC/VI-H14 1:150). An immunohistochemical examination is vital for the diagnosis since it allows to differentiate histologically distinct types of neoplasia which may locate in the same site and may manifest a similar histological pattern. PMID:20492718
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40 CFR 262.25 - Electronic manifest signatures.
Code of Federal Regulations, 2014 CFR
2014-07-01
... 40 Protection of Environment 26 2014-07-01 2014-07-01 false Electronic manifest signatures. 262.25... (CONTINUED) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE The Manifest § 262.25 Electronic manifest signatures. Electronic signature methods for the e-Manifest system shall: (a) Be a legally valid and...
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40 CFR 761.210 - Manifest discrepancies.
Code of Federal Regulations, 2010 CFR
2010-07-01
... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.210 Manifest discrepancies. (a) Manifest discrepancies are differences between the quantity or type of PCB waste designated on the manifest or shipping paper and the quantity or type of PCB waste actually delivered to and received by a designated facility...
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Palazzi, Carlo; D'Amico, Emilio; D'Angelo, Salvatore; Gilio, Michele; Olivieri, Ignazio
2016-01-28
Hepatitis C virus (HCV) is a hepato- and lymphotropic agent that is able to induce several autoimmune rheumatic disorders: vasculitis, sicca syndrome, arthralgias/arthritis and fibromyalgia. The severity of clinical manifestations is variable and sometimes life-threatening. HCV infection can mimic many primitive rheumatic diseases, therefore, it is mandatory to distinguish HCV-related manifestations from primitive ones because the prognosis and therapeutic strategies can be fairly dissimilar. The new direct-acting antivirals drugs can help to avoid the well-known risks of worsening or new onset of autoimmune diseases during the traditional interferon-based therapies.
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Origin and radiation of the earliest vascular land plants.
Steemans, Philippe; Hérissé, Alain Le; Melvin, John; Miller, Merrell A; Paris, Florentin; Verniers, Jacques; Wellman, Charles H
2009-04-17
Colonization of the land by plants most likely occurred in a stepwise fashion starting in the Mid-Ordovician. The earliest flora of bryophyte-like plants appears to have been cosmopolitan and dominated the planet, relatively unchanged, for some 30 million years. It is represented by fossilized dispersed cryptospores and fragmentary plant remains. In the Early Silurian, cryptospore abundance and diversity diminished abruptly as trilete spores appeared, became abundant, and underwent rapid diversification. This change coincides approximately with the appearance of vascular plant megafossils and probably represents the origin and adaptive radiation of vascular plants. We have obtained a diverse trilete spore occurrence from the Late Ordovician that suggests that vascular plants originated and diversified earlier than previously hypothesized, in Gondwana, before migrating elsewhere and secondarily diversifying.
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Observing the Earliest Galaxies: Looking for the Sources of Reionization
NASA Astrophysics Data System (ADS)
Illingworth, Garth
2015-04-01
Systematic searches for the earliest galaxies in the reionization epoch finally became possible in 2009 when the Hubble Space Telescope was updated with a powerful new infrared camera during the final Shuttle servicing mission SM4 to Hubble. The reionization epoch represents the last major phase transition of the universe and was a major event in cosmic history. The intense ultraviolet radiation from young star-forming galaxies is increasingly considered to be the source of the photons that reionized intergalactic hydrogen in the period between the ``dark ages'' (the time before the first stars and galaxies at about 100-200 million years after the Big Bang) and the end of reionization around 800-900 million years. Yet finding and measuring the earliest galaxies in this era of cosmic dawn has proven to a challenging task, even with Hubble's new infrared camera. I will discuss the deep imaging undertaken by Hubble and the remarkable insights that have accrued from the imaging datasets taken over the last decade on the Hubble Ultra-Deep Field (HUDF, HUDF09/12) and other regions. The HUDF datasets are central to the story and have been assembled into the eXtreme Deep Field (XDF), the deepest image ever from Hubble data. The XDF, when combined with results from shallower wide-area imaging surveys (e.g., GOODS, CANDELS) and with detections of galaxies from the Frontier Fields, has provided significant insights into the role of galaxies in reionization. Yet many questions remain. The puzzle is far from being fully solved and, while much will done over the next few years, the solution likely awaits the launch of JWST. NASA/STScI Grant HST-GO-11563.
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Ophthalmic Manifestations of Congenital Zika Syndrome in Colombia and Venezuela.
Yepez, Juan B; Murati, Felipe A; Pettito, Michele; Peñaranda, Carlos F; de Yepez, Jazmin; Maestre, Gladys; Arevalo, J Fernando
2017-05-01
The ocular manifestations and sequelae of Zika virus infection are not well known. Recently, the World Health Organization changed the declaration of Zika as a public health emergency and designated the viral outbreak and related microcephaly clusters as a long-term program of work. This change indicates the urgent need to evaluate and document ophthalmic manifestations in patients for timely management of this disease. In addition, confirmation whether the public health problem in Brazil extends to other regions in South America is needed. To report the ocular manifestations of congenital Zika syndrome with microcephaly in Colombia and Venezuela. This prospective case series included 43 patients from 2 ophthalmic centers in Colombia and Venezuela who underwent evaluation from October 1, 2015, through June 30, 2016, and were clinically diagnosed with congenital Zika syndrome. Twenty patients were Hispanic; 13, African; 8, white; and 2, Native American. Ophthalmic and systemic evaluations and serologic testing were performed on all infants. Patients underwent external ocular examination and dilated ophthalmoscopy. Serologic testing ruled out toxoplasmosis, rubella, cytomegalovirus, syphilis, and human immunodeficiency virus. Ophthalmic manifestations of congenital Zika syndrome. Of the 43 patients included in this series (28 female and 15 male), the mean (SD) age at examination was 2.1 (1.5) months. The mothers of all the children had no ophthalmic findings and did not report ocular symptoms during pregnancy. All patients had bilateral ophthalmic manifestations. Optic nerve findings included hypoplasia with the double-ring sign, pallor, and increased cup-disc ratio in 5 patients (11.6%). Macular abnormalities included mild to severe pigment mottling in 27 patients (63%) and lacunar maculopathy in 3 (6.9%). Chorioretinal scarring was present in 3 patients (7%). Eleven patients (26%) had a combination of lesions in the posterior pole. Five patients (12%) were
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Ophthalmic Manifestations of Congenital Zika Syndrome in Colombia and Venezuela
Yepez, Juan B.; Murati, Felipe A.; Pettito, Michele; Peñaranda, Carlos F.; de Yepez, Jazmin; Maestre, Gladys
2017-01-01
Importance The ocular manifestations and sequelae of Zika virus infection are not well known. Recently, the World Health Organization changed the declaration of Zika as a public health emergency and designated the viral outbreak and related microcephaly clusters as a long-term program of work. This change indicates the urgent need to evaluate and document ophthalmic manifestations in patients for timely management of this disease. In addition, confirmation whether the public health problem in Brazil extends to other regions in South America is needed. Objective To report the ocular manifestations of congenital Zika syndrome with microcephaly in Colombia and Venezuela. Design, Setting, and Participants This prospective case series included 43 patients from 2 ophthalmic centers in Colombia and Venezuela who underwent evaluation from October 1, 2015, through June 30, 2016, and were clinically diagnosed with congenital Zika syndrome. Twenty patients were Hispanic; 13, African; 8, white; and 2, Native American. Interventions Ophthalmic and systemic evaluations and serologic testing were performed on all infants. Patients underwent external ocular examination and dilated ophthalmoscopy. Serologic testing ruled out toxoplasmosis, rubella, cytomegalovirus, syphilis, and human immunodeficiency virus. Main Outcomes and Measures Ophthalmic manifestations of congenital Zika syndrome. Results Of the 43 patients included in this series (28 female and 15 male), the mean (SD) age at examination was 2.1 (1.5) months. The mothers of all the children had no ophthalmic findings and did not report ocular symptoms during pregnancy. All patients had bilateral ophthalmic manifestations. Optic nerve findings included hypoplasia with the double-ring sign, pallor, and increased cup-disc ratio in 5 patients (11.6%). Macular abnormalities included mild to severe pigment mottling in 27 patients (63%) and lacunar maculopathy in 3 (6.9%). Chorioretinal scarring was present in 3 patients (7
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The earliest history of diaphragm physiology.
Derenne, J P; Debru, A; Grassino, A E; Whitelaw, W A
1994-12-01
The diaphragm was recognized as a distinct anatomical structure in the earliest Greek writings. However, the precise description of wounds suffered by warriors during the Trojan war by Homer was not tied to any particular function. The diaphragm was assimilated to the region that harbours thought. The first physiologic explanations of respiration by Empedocles in the 5th century BC and the concepts introduced by Plato and Hippocrates did not include a significant participation of the diaphragm. Aristole was the first to link respiration to a particular organ and a specific movement of the thorax. However, he considered that it was the heart which caused the lungs to expand by heating them, and the lungs in turn forced the thorax to dilate, a concept which was to survive until the 17th century. As in Aristole's theory the diaphragm played no role in respiration and was just a fence separating the thorax from the abdomen. A major break through occurred in Alexandria in the 4th and 3rd century BC: Herophilus was the first to recognize that muscles were the agents of movement and Erasistratus performed animal experiments which showed that the respiratory muscles were the agents of respiratory movements, thus opening the way to the later discoveries of Galen.
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Orozco Fariñas, Rodolfo; Iglesias Prieto, José Ignacio; Massarrah Halabi, Jorge; Mancebo Gómez, José María; Pérez-Castro Ellendt, Enrique
2011-01-01
The present study is a continuation of an earlier article published on the incidence, clinical manifestations, treatment and risk factors associated with postlithotripsy renal hematomas (1). To assess the possible influence of the size and radiodensity of kidney stones on the incidence and clinical behavior of renal postlithotripsy hematomas. Observational prospective study of 324 renal units in the same number of patients undergoing extracorporeal renal lithotripsy. The variables "calculus size" and "radiographic calculus density" were evaluaArch. ted statistically by means of the IPSS 0.15 program on the basis of 42 postlithotripsy hematomas diagnosed and grouped according to their clinical behavior. Higher incidence of hematomas was observed in hiperdense calculi (25%) versus medium density calculi (7,4%), this difference was significant in the asymptomatic hematoma group. Calculus size was unrelated to the incidence of renal hematoma, but there was a significant association between renal hematoma and radiographic calculus density, probably due to the relation of radiographic density to chemical composition and, ultimately, to hardness and ultrastructure. Ultrastructure is yet another factor, among others, to be taken into account as a potential conditioning factor for this complication.
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Gastrointestinal Manifestations of Cystic Fibrosis
2016-01-01
Cystic fibrosis has historically been considered a pulmonary disease, but with the increasing life expectancy of these patients, gastrointestinal manifestations are becoming more important. Furthermore, nutritional status is closely linked to pulmonary function and, thus, overall mortality. This article discusses gastrointestinal manifestations (which involve nutritional, pancreatic, hepatobiliary, and, in particular, gastrointestinal tract issues) of cystic fibrosis as well as management of the disease. In addition, the article discusses studies that have been critical to our understanding of gastrointestinal manifestations of cystic fibrosis. PMID:27330503
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Ice-core evidence of earliest extensive copper metallurgy in the Andes 2700 years ago
NASA Astrophysics Data System (ADS)
Eichler, A.; Gramlich, G.; Kellerhals, T.; Tobler, L.; Rehren, Th.; Schwikowski, M.
2017-01-01
The importance of metallurgy for social and economic development is indisputable. Although copper (Cu) was essential for the wealth of pre- and post-colonial societies in the Andes, the onset of extensive Cu metallurgy in South America is still debated. Comprehensive archaeological findings point to first sophisticated Cu metallurgy during the Moche culture ~200-800 AD, whereas peat-bog records from southern South America suggest earliest pollution potentially from Cu smelting as far back as ~2000 BC. Here we present a 6500-years Cu emission history for the Andean Altiplano, based on ice-core records from Illimani glacier in Bolivia, providing the first complete history of large-scale Cu smelting activities in South America. We find earliest anthropogenic Cu pollution during the Early Horizon period ~700-50 BC, and attribute the onset of intensified Cu smelting in South America to the activities of the central Andean Chiripa and Chavin cultures ~2700 years ago. This study provides for the first time substantial evidence for extensive Cu metallurgy already during these early cultures.
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Ice-core evidence of earliest extensive copper metallurgy in the Andes 2700 years ago.
Eichler, A; Gramlich, G; Kellerhals, T; Tobler, L; Rehren, Th; Schwikowski, M
2017-01-31
The importance of metallurgy for social and economic development is indisputable. Although copper (Cu) was essential for the wealth of pre- and post-colonial societies in the Andes, the onset of extensive Cu metallurgy in South America is still debated. Comprehensive archaeological findings point to first sophisticated Cu metallurgy during the Moche culture ~200-800 AD, whereas peat-bog records from southern South America suggest earliest pollution potentially from Cu smelting as far back as ~2000 BC. Here we present a 6500-years Cu emission history for the Andean Altiplano, based on ice-core records from Illimani glacier in Bolivia, providing the first complete history of large-scale Cu smelting activities in South America. We find earliest anthropogenic Cu pollution during the Early Horizon period ~700-50 BC, and attribute the onset of intensified Cu smelting in South America to the activities of the central Andean Chiripa and Chavin cultures ~2700 years ago. This study provides for the first time substantial evidence for extensive Cu metallurgy already during these early cultures.
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Ice-core evidence of earliest extensive copper metallurgy in the Andes 2700 years ago
Eichler, A.; Gramlich, G.; Kellerhals, T.; Tobler, L.; Rehren, Th.; Schwikowski, M.
2017-01-01
The importance of metallurgy for social and economic development is indisputable. Although copper (Cu) was essential for the wealth of pre- and post-colonial societies in the Andes, the onset of extensive Cu metallurgy in South America is still debated. Comprehensive archaeological findings point to first sophisticated Cu metallurgy during the Moche culture ~200–800 AD, whereas peat-bog records from southern South America suggest earliest pollution potentially from Cu smelting as far back as ~2000 BC. Here we present a 6500-years Cu emission history for the Andean Altiplano, based on ice-core records from Illimani glacier in Bolivia, providing the first complete history of large-scale Cu smelting activities in South America. We find earliest anthropogenic Cu pollution during the Early Horizon period ~700–50 BC, and attribute the onset of intensified Cu smelting in South America to the activities of the central Andean Chiripa and Chavin cultures ~2700 years ago. This study provides for the first time substantial evidence for extensive Cu metallurgy already during these early cultures. PMID:28139760
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Haroon, Muhammad; Eltahir, Ahmed; Harney, Sinead
2011-04-01
Generalized subcutaneous edema is a very rare manifestation of inflammatory myopathies. A 61-year-old woman presented with classic signs and symptoms of dermatomyositis. She was also noted to have generalized edema that was so florid that an alternative diagnosis was considered. Her disease was resistant to corticosteroids, azathioprine, and mycophenolate mofetil. Intravenous administration of immunoglobulins was started because of marked worsening of her disease-muscle weakness, generalized anasarca, and involvement of her bulbar muscles. This led to dramatic resolution of her subcutaneous edema and significant improvement of her skin and muscle disease. As the initial screen for malignancy was negative, a positron emission tomography-computed tomography scan was requested, which interestingly showed a metabolically active cervical tumor. Anasarca is an unusual manifestation of dermatomyositis. In treatment-refractory cases, it seems reasonable to consider positron emission tomography scan in excluding underlying malignant disease.
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Gilman, Andrew J; Le, An K; Zhao, Changqing; Hoang, Joseph; Yasukawa, Lee A; Weber, Susan C; Vierling, John M; Nguyen, Mindie H
2018-01-01
Goals To examine the role that autoantibodies (auto-abs) play in chronic hepatitis C virus (HCV) regarding demographics, presence of extrahepatic manifestations and long-term outcomes in a large US cohort. Background Auto-abs have been reported to be prevalent in patients with chronic HCV infection, but data on the natural history of these patients are limited. Study The study included 1556 consecutive patients with HCV without concurrent HIV and/or HBV who had testing for antinuclear antibody (ANA), antimitochondrial antibody (AMA), antismooth muscle antibody (ASMA) and/or antiliver kidney microsomal antibody (LKM). Primary outcomes included development of cirrhosis, hepatic decompensations, hepatocellular carcinoma (HCC), mortality and/or sustained virological response (SVR) to antiviral therapy. Results A total of 388 patients tested positive for any auto-ab (ANA 21.8%, ASMA 13.3%, AMA 2.2% and LKM 1.2%). Patients who tested positive versus negative were more likely to be women (29.3% vs 20.9%, p<0.001) and less likely to achieve SVR with most treated patients receiving interferon-based therapies (37.2% vs 47.1%, p=0.031). There was no difference between groups for baseline laboratory data, disease state or rate of extrahepatic manifestations (42.8% vs 45.0%, p=0.44). Kaplan-Meier analysis revealed no statistically significant difference between groups for the 10-year development of cirrhosis, hepatic decompensations, HCC nor survival. Furthermore, auto-ab positivity was only found to be a predictor for a lower rate of SVR on multivariate analysis (adjusted OR=1.61, 95 % CI 1.00 to 2.58, p=0.048). Conclusions In our cohort, auto-ab positivity was common, especially in women, and predicted a lower rate of SVR but otherwise had no impact on the natural history of chronic HCV or presence of extrahepatic manifestations. PMID:29755758
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Wang, Caiying; He, Shuxin; Yang, Hongling; Liu, Yuhuan; Zhao, Yang; Pang, Lin
2017-09-23
The objective of this retrospective study was to summarise the clinical manifestations of, and to analyse the incidence and risk factors of, Jarisch-Herxheimer reaction (JHR) during the treatment of children with symptomatic congenital syphilis. Clinical data of 60 children with clinically and laboratory diagnosed congenital syphilis, hospitalised in Beijing Ditan Hospital between January 2010 and November 2015, were collected and analysed. A total of 11 patients with congenital syphilis (11/60, 18.3%) developed JHR. JHR occurred in 1-6 hour after the first dose of penicillin. Common clinical manifestations included fever (11/11, 100%), irritability (11/11, 100%), rapid pulse and breathing (11/11, 100%), exacerbation of existing rash (5/11, 45.6%) and chills (3/11, 27.3%). Of the 11 patients who developed JHR, 9 patients (9/11, 81.8%) had bone syphilis, 10 (10/11, 90.9%) had more than three organs affected by syphilis and 10 (10/11, 90.9%) had a high plasma concentration of rapid plasma reagin (RPR) (≥1:256); these percentages were significantly higher than in patients who had not developed JHR (p<0.05), suggesting that the occurrence of JHR was related to bone syphilis, having more than three organs affected by syphilis and a high plasma concentration of RPR. Clinicians should be familiar with the risk factors for this reaction and its common clinical manifestations. © 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.
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Imbornoni, Lauren; Price, Elinora T; Andrews, Jennifer; Meaney, F John; Ciafaloni, Emma; Cunniff, Christopher
2014-11-01
Manifestations of Duchenne and Becker muscular dystrophy (DBMD) are present in up to 40% of heterozygous females, but there are few reports of females who exhibit skeletal muscle symptoms in childhood. From the Muscular Dystrophy Surveillance Tracking and Research Network, a multi-site population-based surveillance network for dystrophinopathy, nine symptomatic female heterozygotes with onset of symptoms prior to age 9 years were identified. The median age at diagnosis was 8.3 years, and the median interval from first symptoms to diagnosis was 1.35 years. Of the nine female heterozygotes, four had a positive family history, seven had intellectual disability and five had at least one mental health disorder. Mental health concerns included attention deficit hyperactivity disorder (ADHD), autism spectrum features, bipolar disorder, and depression. The frequency of intellectual and mental health problems in this group is higher than previously reported for affected males and for symptomatic females. These findings may have implications for diagnosis of early manifesting heterozygotes and for their health supervision. © 2014 Wiley Periodicals, Inc.
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Nie, Shuke; Chen, Guiqin; Cao, Xuebing; Zhang, Yunjian
2014-11-26
Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome 2q33-qter and contains nine exons. A CYP27A1 mutation leads to decreased synthesis of bile acid, excess production of cholestanol, and consequent accumulation of cholestanol in tissues. Currently there is no consensus on the prevalence of CTX, one estimate being <5/100,000 worldwide. The prevalence of CTX due to the CYP27A1 mutation R362C alone is approximately 1/50,000 in Caucasians. Patients with CTX have an average age of 35 years at the time of diagnosis and a diagnostic delay of 16 years. Clinical signs and symptoms include adult-onset progressive neurological dysfunction (i.e., ataxia, dystonia, dementia, epilepsy, psychiatric disorders,peripheral neuropathy, and myopathy) and premature non-neurologic manifestations (i.e., tendon xanthomas, childhood-onset cataracts, infantile-onset diarrhea, premature atherosclerosis, osteoporosis, and respiratory insufficiency). Juvenile cataracts, progressive neurologic dysfunction, and mild pulmonary insufficiency are unique symptoms that distinguish CTX from other lipid storage disorders including familial dysbetalipoproteinemia, homozygous familial hypercholesterolemia, and sitosterolemia, all of which might also present with xanthomas and cardiovascular diseases. Brain magnetic resonance imaging (MRI) shows bilateral lesions in the dentate nucleus of the cerebellum and mild white matter lesions. The classical symptoms and signs, namely elevated levels of cholestanol and bile alcohols in serum and urine, brain MRI, and the mutation in the CYP27A1 gene confirm the diagnosis of CTX. Early diagnosis and long-term treatment with chenodeoxycholic acid (750 mg/d) improve neurological symptoms and contribute to a better prognosis.
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Rasmussen-Barr, Eva; Savage, Mairi; Von Knorring, Mia
2018-05-18
Health care is undergoing changes and this requires the participation and leadership of all health-care professions. While numerous studies have explored leadership competence among physicians and nurses, the physiotherapy profession has received but limited attention. The aim of this study was to explore how leadership manifests in the patient-therapist interaction among physiotherapists in primary health care and how the physiotherapists themselves relate their perception of leadership to their clinical practice. A qualitative study with semi-structured interviews was conducted with a purposive sample of 10 physiotherapists working in primary health care. The interviews were analyzed using inductive qualitative content analysis. Five themes were identified related to how leadership manifests in the patient-therapist interaction: (1) establishing resonant relationships; (2) engaging patients to build ownership; (3) drawing on authority; (4) building on professionalism; and (5) relating physiotherapists clinical practice to leadership. This study describes how leadership manifests in the patient-physiotherapist interaction. The findings can be used to empower physiotherapists in their clinical leadership and to give them confidence in taking on formal leadership roles, thus becoming active participants in improving health care. Future studies are needed to explore other aspects of leadership used in physiotherapy clinical practice.
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Campuzano-García, Andrés Eduardo; Rodríguez-Arámbula, Adriana; Torres-Alvarez, Bertha; Castanedo-Cázares, Juan Pablo
2015-05-18
Mitochondrial myopathies are inborn metabolism defect diseases manifested by symptoms reflecting failure of the final step in the mitochondrial respiratory chain. Clinical expression of these conditions can vary widely, but typically includes organ systems with a high energy demand, such as striated muscle, myocardium, and nervous and liver tissues. In contrast, cutaneous manifestations are rare and are non-specific, most commonly presenting as pigmentation disorders. In this case report, we present a case of Alpers syndrome accompanied by hyperpigmentation and atrophy in skin folds.
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Pericarditis as presenting manifestation of acute nonlymphocytic leukemia in a young child.
Chu, J Y; Demello, D; O'Connor, D M; Chen, S C; Gale, G B
1983-07-15
A case of acute nonlymphocytic leukemia presenting as pericarditis is reported in a five-year-old boy. Initially, a clinical diagnosis of viral pericarditis was made, because the child did not demonstrate hematologic or clinical manifestations of leukemia. Acute undifferentiated or lymphocytic leukemia. Acute undifferentiated or lymphocytic leukemia was diagnosed one week after admission when his peripheral blood count became abnormal. The patient did not respond to vincristine and prednisone. When cytochemical evaluation indicated acute myelomonocytic leukemia, employment of cytosine arabinoside and 6-thioguanine was instituted and the child began to improve. Currently, he is still in good remission and has no evidence of recurrence of pericarditis, 1 1/2 years after his initial presentation. In reviewing the literature, we found 17 patients who had leukemic pericardial effusion with cardiac tamponade. There are three reported cases of young children with pericardial effusion as the initial manifestation of acute lymphocytic leukemia, but no reported cases due to nonlymphocytic leukemia, as in this child.
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2012-01-01
Abstract Perivascular epithelioid cell (PEC) tumors (PEComas) are a family of related mesenchymal tumors composed of PECs which co-express melanocytic and smooth muscle markers. Although their distinctive histologic, immunohistochemical, ultrastructural, and genetic features have been clearly demonstrated, their histogenesis and normal counterpart remain largely unknown. Precursor lesions of PEComas have rarely been reported. We herein describe a tuberous sclerosis patient with microscopic PEC nodules in the endometrium of adenomyosis, pelvic endometriosis, an ovarian endometriotic cyst, and the endometrium of the uterine cavity. The nodules showed a mixture of spindle-shaped and epithelioid cells concentrically arranged around small arteries. The cells exhibited uniform nuclei, light eosinophilic cytoplasm, and immunoreactivity with HMB-45 and CD10. Some nodules revealed continuity with a PEComa in the myometrium. These findings support microscopic endometrial PEC nodules possibly being precursor lesions of uterine PEComas. The wide distribution of the nodules in the pelvis may be related to the multicentricity of PEComas in tuberous sclerosis patients. Owing to the immunoreactivity with CD10, microscopic endometrial PEC nodules may be misinterpreted as endothelial stromal cells unless melanocytic markers are stained. To the best of our knowledge, this is a case with the earliest manifestation of PEC lesions occurring in the endometrium. Virtual Slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/9658280017862643 PMID:22937790
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Fang, Chia-Lang; Lin, Yun-Ho; Chen, Wei-Yu
2012-09-03
Perivascular epithelioid cell (PEC) tumors (PEComas) are a family of related mesenchymal tumors composed of PECs which co-express melanocytic and smooth muscle markers. Although their distinctive histologic, immunohistochemical, ultrastructural, and genetic features have been clearly demonstrated, their histogenesis and normal counterpart remain largely unknown. Precursor lesions of PEComas have rarely been reported. We herein describe a tuberous sclerosis patient with microscopic PEC nodules in the endometrium of adenomyosis, pelvic endometriosis, an ovarian endometriotic cyst, and the endometrium of the uterine cavity. The nodules showed a mixture of spindle-shaped and epithelioid cells concentrically arranged around small arteries. The cells exhibited uniform nuclei, light eosinophilic cytoplasm, and immunoreactivity with HMB-45 and CD10. Some nodules revealed continuity with a PEComa in the myometrium. These findings support microscopic endometrial PEC nodules possibly being precursor lesions of uterine PEComas. The wide distribution of the nodules in the pelvis may be related to the multicentricity of PEComas in tuberous sclerosis patients. Owing to the immunoreactivity with CD10, microscopic endometrial PEC nodules may be misinterpreted as endothelial stromal cells unless melanocytic markers are stained. To the best of our knowledge, this is a case with the earliest manifestation of PEC lesions occurring in the endometrium. Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/9658280017862643.
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Renesme, L
2017-12-01
To describe the epidemiology of neonatal herpes and its risk factors, clinical and paraclinic manifestations, propose guidelines for a newborn at risk of neonatal herpes, describe treatment modalities, describe post-natal transmission and its prevention. Bibliographic search from Medline, Cochrane Library databases and research of international clinical practice guidelines. Neonatal herpes is rare (about 20 cases per year in France) and mainly due to HSV 1 (level of evidence LE3). The main risk factors for mother-to-child transmission are maternal primary episode of genital herpes close to delivery and serotype HSV 1 (LE3). There are three clinical forms of neonatal herpes : SEM infection for skin, eyes and mucosa, central nervous system (CNS) associated infection, and the disseminated infection. Neurological mortality and morbidity depend on the clinical form and the HSV serotype (LE3). In most of the case of neonatal herpes, the mothers have no history of genital herpes (LE3). Fever and vesicular rash may be absent at the time of diagnosis (LE3). In case of suspicion of neonatal herpes, different samples (blood and cerebrospinal fluid) for HSV PCR must be carried out to confirm the diagnosis (Professional consensus). Any newborn suspected of neonatal herpes should be treated with intravenous aciclovir (Grade A) prior to the results of HSV PCR (Professional consensus). In case of maternal genital herpes at delivery, the management of an asymptomatic newborn depends on the evaluation of the risk of transmission. In case of maternal reactivation (low risk of transmission), HSV PCR samples are taken at 24hours of life and the newborn must be follow closely until results. In the case of maternal primary episode or non-primary infection first episode (high risk of transmission), the samples are taken at 24hours of life and intravenous treatment with aciclovir is started (Professional consensus). The treatment of neonatal herpes is based on intravenous aciclovir (60mg
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Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex.
Scheidt, Lisa; Sanabe, Mariane Emi; Diniz, Michele Baffi
2015-01-01
Epidermolysis bullosa (EB) is a group of hereditary chronic disorders, characterized by fragility of the skin and mucous membranes in response to minor mechanical trauma. The objective of this study was to report the case of a young girl diagnosed with epidermolysis bullosa simplex (EBS), transmitted by an autosomal dominant gene. Cutaneous findings included blisters and dystrophy following minimal friction. Recurrent blisters and vesicle formation on the hard palate were the main oral findings. In conclusion, publications concerning the oral and clinical manifestations of EBS are important for providing knowledge and an early multidisciplinary approach that prevents blister formation and improves these patients' quality of life, with the dentist playing an important role in oral health management. How to cite this article: Scheidt L, Sanabe ME, Diniz MB. Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex. Int J Clin Pediatr Dent 2015;8(3):239-241.
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Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex
Scheidt, Lisa; Sanabe, Mariane Emi
2015-01-01
ABSTRACT Epidermolysis bullosa (EB) is a group of hereditary chronic disorders, characterized by fragility of the skin and mucous membranes in response to minor mechanical trauma. The objective of this study was to report the case of a young girl diagnosed with epidermolysis bullosa simplex (EBS), transmitted by an autosomal dominant gene. Cutaneous findings included blisters and dystrophy following minimal friction. Recurrent blisters and vesicle formation on the hard palate were the main oral findings. In conclusion, publications concerning the oral and clinical manifestations of EBS are important for providing knowledge and an early multidisciplinary approach that prevents blister formation and improves these patients’ quality of life, with the dentist playing an important role in oral health management. How to cite this article: Scheidt L, Sanabe ME, Diniz MB. Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex. Int J Clin Pediatr Dent 2015;8(3):239-241. PMID:26604545
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Read, Joy; Jones, Rebecca; Owen, Gail; Leavitt, Blair R; Coleman, Allison; Roos, Raymund A C; Dumas, Eve M; Durr, Alexandra; Justo, Damian; Say, Miranda; Stout, Julie C; Tabrizi, Sarah J; Craufurd, David
2013-01-01
Given the multifaceted nature of this inherited neurodegenerative condition, typically affecting adults in mid-life, it is perhaps not surprising that studies indicate poorer Health Related Quality of Life (HrQoL) in those with the gene-expansion and, by association, in their families. This study aimed to extend the current literature by exploring specific life domains, including at an earlier disease stage than usually reported in the HRQoL literature, and in a subgroup of gene-negative partners. 355 participants from the TRACK-HD cohort (120 Controls, 118 Pre-HD and 117 early-HD) completed standardised self-report measures of HrQoL (SF36 and QoLI), underwent clinical assessments of capacity and motor function (UHDRS), semi structured interviews assessing neuropsychiatric symptoms (PBA-s), completed paper and computerized cognitive tasks and assessment of behaviours associated with damage to frontal brain circuits (FrSBe). Each gene-expanded group scored statistically significantly lower than gene-negative sibling controls on the SF36 General Health subscale; neuropsychiatric symptoms and executive dysfunction were associated with reduced HrQoL. Those with Stage II disease reported statistically significantly lower HrQoL than gene-negative controls across physical, emotional and social life domains. Those partnered with manifest participants reported lower HrQoL in the social domain compared to those partnered with at-risk participants furthest from disease onset; and perseverative symptoms in manifest partners were found to be related to lower HrQoL in their gene-negative partners. HrQoL in gene-negative partners of pre-manifest individuals was associated with pre-manifest individuals' neuropsychiatric and cognitive function. Understanding the nature and timing of disruption to the HrQoL in people who are pre-manifest and diagnosed with HD, and their gene-negative partners, can inform the development of appropriate strategies and interventions.
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Kaczmarska, Irena; Ehrman, James M.
2015-01-01
Background Diatoms are one of the most ecologically important aquatic micro-eukaryotes. As a group unambiguously recognized as diatoms, they seem to have appeared relatively recently with a limited record of putative remains from oldest sediments. In contrast, molecular clock estimates for the earliest possible emergence of diatoms suggest a considerably older date. Depending on the analysis, Paralia and Leptocylindrus have been recovered within the basal molecular divergences of diatoms. Thus these genera may be in the position to inform on characters that the earliest diatoms possessed. Findings Here we present auxospore development and structure of initial and post-auxospore cells in a representative of the ancient non-polar centric genus Paralia. Their initial frustules showed unusual, but not unprecedented, spore-like morphology. Similarly, initial frustules of Leptocylindrus have been long considered resting spores and a unique peculiarity of this genus. However, even though spore-like in appearance, initial cells of Paralia readily resumed mitotic divisions. In addition, Paralia post-auxospore cells underwent several rounds of mitoses in a multi-step process of building a typical, “perfect” vegetative valve. This degree of heteromorphy immediately post-auxosporulation is thus far unknown among the diatoms. Implications A spore-related origin of diatoms has already been considered, most recently in the form of the “multiplate diploid cyst” hypothesis. Our discovery that the initial cells in some of the most ancient diatom lineages are structurally spore-like is consistent with that hypothesis because the earliest diatoms may be expected to look somewhat similar to their ancestors. We speculate that because the earliest diatoms may have appeared less diatom-like and more spore-like, they could have gone unrecognized as such in the Triassic/Jurassic sediments. If correct, diatoms may indeed be much older than the fossil record indicates, and possibly
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Lutwak, Nancy; Dill, Curt
2012-01-01
Herpes zoster is a common illness that can lead to serious morbidity. There is now evidence that HIV-infected patients who have been treated with antiretroviral therapy are at greater risk of developing herpes zoster not when they are severely immunocompromised but, paradoxically, when their immune system is recovering. This is a manifestation of the immune reconstitution inflammatory syndrome. The objectives of this report are to (1) inform health care providers that HIV-infected patients may develop multiple infectious, autoimmune, and oncological manifestations after treatment with antiretroviral medication, as they have immune system reconstitution, and (2) discuss herpes zoster, one of the possible manifestations. The patient is a 68-year-old HIV-positive man who presented with herpes zoster after being treated with highly active antiretroviral therapy (HAART) when his immune system was recovering, not when he was most immunosuppressed. Emergency department physicians should be aware that HIV-infected patients treated with HAART may have clinical deterioration despite immune system strengthening. This immune reconstitution inflammatory syndrome can present with infectious, autoimmune, or oncological manifestations. Our case patient, an HIV-positive man with immune system recovery after treatment with HAART, presented with an infectious manifestation, herpes zoster.
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Acute and chronic hepatobiliary manifestations of sickle cell disease: A review
Shah, Rushikesh; Taborda, Cesar; Chawla, Saurabh
2017-01-01
Sickle cell disease (SCD) is a common hemoglobinopathy which can affect multiple organ systems in the body. Within the digestive tract, the hepatobiliary system is most commonly affected in SCD. The manifestations range from benign hyperbilirubinemia to overt liver failure, with the spectrum of acute clinical presentations often referred to as “sickle cell hepatopathy”. This is an umbrella term referring to liver dysfunction and hyperbilirubinemia due to intrahepatic sickling process during SCD crisis leading to ischemia, sequestration and cholestasis. In this review, we detail the pathophysiology, clinical presentation and biochemical features of various acute and chronic hepatobiliary manifestations of SCD and present and evaluate existing evidence with regards to management of this disease process. We also discuss recent advances and controversies such as the role of liver transplantation in sickle cell hepatopathy and highlight important questions in this field which would require further research. Our aim with this review is to help increase the understanding, aid in early diagnosis and improve management of this important disease process. PMID:28868180
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Albertoni Giraldes, Ana Laura; Salomão, Reinaldo; Leal, Plinio da Cunha; Brunialti, Milena Karina Coló; Sakata, Rioko Kimiko
2016-10-01
Regarding the use of intravenous lidocaine in fibromyalgia, there are no well-controlled studies. This study aimed to evaluate the effect of intravenous lidocaine on pain intensity, clinical manifestations and plasma levels of interleukin (IL)-1, IL-6, and IL-8 in fibromyalgia patients. In a randomized double-blind study, group 1 patients received 240 mg of lidocaine in 125 mL of saline solution, while group 2 patients received 125 mL of saline, both once a week for 4 weeks (T1, T2, T3 and T4). All patients received amitriptyline. The following were assessed: pain intensity before treatment (T0) and at 1, 2, 3, 4 and 8 weeks after treatment; clinical manifestations; the fibromyalgia impact questionnaire (FIQ) before and at 4 and 8 weeks after; the levels of IL 1, 6 and 8 before and at 4 and 8 weeks after treatment. Lower pain intensity was observed in the lidocaine group at T2, with no difference at the other time points. There was a reduction in pain intensity in both groups. The use of paracetamol and tramadol and plasma levels of IL-1, IL-6 and IL-8 did not differ between the groups. Clinical manifestations and side effects did not differ between groups. The combination of 240 mg of intravenous lidocaine (once a week for 4 weeks) with 25 mg of amitriptyline for 8 weeks had no meaningful impact in fibromyalgia patients. © 2016 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.
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Manifestations of Gorlin-Goltz syndrome.
Larsen, Anne Kristine; Mikkelsen, Dorthe Bisgaard; Hertz, Jens Michael; Bygum, Anette
2014-05-01
Gorlin-Goltz syndrome is an uncommon hereditary condition caused by mutations in the PTCH1 gene causing a wide range of developmental abnormalities. Multiple basal cell carcinomas, palmoplantar pits and jaw cysts are cardinal features. Many clinicians are unfamiliar with the different manifestations and the fact that patients are especially sensitive to ionizing radiation. This was a retrospective analysis of patients with Gorlin-Goltz syndrome seen at the Department of Dermatology and Allergy Centre or at Department of Plastic Surgery, Odense University Hospital, Denmark, in the period from 1994 to 2013. A total of 17 patients from eight families fulfilled the diagnostic criteria. In all, 14 patients had basal cell carcinomas, 12 patients had jaw cysts and ten patients had calcification of the falx cerebri. Other clinical features were frontal bossing, kyphoscoliosis, rib anomalies, coalitio, cleft lip/palate, eye anomalies, milia and syndactyly. In one family, medulloblastoma and astrocytoma occurred. Traditional treatment principles of basal cell carcinomas were used including radiotherapy performed in six patients. PTCH1 mutations were identified in five families and none of these mutations had previously been described. The patient cohort illustrates classic and rare disease manifestations. It is necessary to remind clinicians that radiation therapy in Gorlin-Goltz syndrome is relatively contraindicated. Today, mutation analysis can be used for confirmation of the diagnosis and for predictive genetic testing. Patients should be offered genetic counselling and life-long surveillance. not relevant. not relevant.
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Haan, E A; Furness, M E; Knowles, S; Morris, L L; Scott, G; Svigos, J M; Vigneswaren, R
1989-06-01
We describe a male infant with microcephalic osteodysplastic primordial dwarfism. The clinical and radiological manifestations most closely resemble those of the patient described by Winter et al. to have manifestations overlapping with both osteodysplastic primordial dwarfism types I and III. The classification of the patient within the spectrum of osteodysplastic primordial dwarfism is discussed and the distinctive neuropathology documented.
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Ophthalmological manifestations in patients with Leigh syndrome.
Han, Jinu; Lee, Young-Mock; Kim, Sang Myung; Han, So Young; Lee, Jong Bok; Han, Sueng-Han
2015-04-01
To describe the ophthalmological manifestations in patients with childhood onset Leigh syndrome (LS) and investigate the correlation between genotypes and phenotypes in patients with LS. Childhood onset LS was clinically and enzymatically confirmed in a total of 63 patients. Among them, 44 patients who underwent ophthalmologic consultation were included in this study. Patients with LS underwent genotyping for the whole genome of mitochondrial DNA and SURF1 mutations. The clinical demographic and ophthalmologic phenotypes were compared between the good prognosis group and the poor prognosis group. Strabismus (40.9%) was the most frequently observed ophthalmologic manifestation, followed by pigmentary retinopathy (22.5%), optic atrophy (22.5%), ptosis (15.9%), and nystagmus (13.6%). Thirteen patients were exotropes and five patients were esotropes. The mean exodeviation was 29.6±12.5 prism dioptres (PD) and the mean esodeviation was 24.0±8.9 PD. All patients with esotropia reported disease onset at <1 year old. Among 26 patients older than 4 years, eight (30.8%) patients had better than 0.4 in the best eye was noted. Eyelid ptosis was a main presenting sign in four patients (9.1%). Among these patients, two patients had m.13513G>A mutation in the MT-ND5 gene. Age at onset was 2.47±2.06 years in the good prognosis group and 0.92±0.98 years in the poor prognosis group (p=0.002). Serum lactate peak concentration was 3.23±1.36 mmol/L in the good prognosis group and 4.54±2.31 mmol/L in the poor prognosis group (p=0.051). LS is a group of mitochondrial disorders with variable ophthalmologic manifestations, the most frequent being strabismus in this study. Ptosis could be an initial sign in patients with LS and these patients can be easily misdiagnosed as having juvenile myasthenia gravis. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
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Norwegian scabies - rare case of atypical manifestation.
Ebrahim, Karina Corrêa; Alves, Júlia Barazetti; Tomé, Lísias de Araújo; Moraes, Carlos Floriano de; Gaspar, Arianne Ditzel; Franck, Karin Fernanda; Hussein, Mohamad Ali; Cruz, Lucas Raiser da; Ebrahim, Leonardo Duque; Sidney, Luis Felipe de Oliveira
2016-01-01
Human scabies affects all social classes and different races around the world. It is highly contagious, but the exact figures on its prevalence are unknown. A 19-year-old male patient was admitted to the emergency room reporting fever (38°C) and multiple lesions throughout the body, except face, soles, and palms. Lesions were non-pruritic, which hampered the initial diagnostic suspicion. Skin biopsy was performed, and the final diagnosis was crusted scabies (Norwegian). It was concluded that human scabies is a significant epidemic disease, due to its different clinical manifestations, and because it is extremely contagious.
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Song, Yan; Jiang, Kui; Su, Shuai; Wang, Bangmao; Chen, Guangxia
2018-01-01
The current study aimed to summarize the clinical manifestations and identify the epigenetic mechanisms of gastric mucosa associated lymphoid tissue (MALT) lymphoma, as well as evaluate the long-term effects of Helicobacter pylori (H. pylori) eradication. A total of 122 patients with marginal zone B-cell lymphoma of primary gastric MALT lymphoma were enrolled in the present study. The clinical manifestations of gastric MALT lymphoma, including symptoms, H. pylori state and endoscopic type, were summarized. The response to therapy was evaluated in patients that underwent H. pylori eradication. Survival analysis was estimated using the Kaplan-Meier method. The expression of microRNA-383 (miR-383) in tumor tissues and cell lines was determined using reverse transcription quantitative polymerase chain reaction. Furthermore, bioinformatic analyses, luciferase reporter assays. and western blot analysis identified zinc finger E-box binding homeobox 2 (ZEB2) as a direct target gene of miR-383. An MTT assay was used to examine the function of miR-383 and ZEB2 in MALT lymphoma. The clinical symptoms of patients with gastric MALT lymphoma were non-specific and included epigastric pain, abdominal discomfort and bleeding. The majority of endoscopic types were classified as ulcer, erosion and mucosa edema. The H. pylori infection rate was 79.5% (97/122) and a total of 47 patients underwent eradication therapy. Lymphoma remission was achieved in 93.6% (44/47) of patients and complete remission (CR) was achieved in 74.4% (35/47). The median follow-up time was 38 months (range, 10–132 months) and the median time taken to achieve CR was 4 months (range, 3–7 months). The estimated 3-year survival rate was 90.3% and the 5-year survival rate was 76.2%. Therefore, it was determined that patients with stage I or II gastric MALT lymphoma are able to undergo H. pylori eradication as a first-line treatment and that the survival rate of patients undergoing this treatment is high
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Gastrointestinal manifestations of cow's milk allergy.
Magazzù, Giuseppe; Scoglio, Riccardo
2002-12-01
To review and discuss the relationship between cow's milk allergy (CMA) and some gastrointestinal manifestations, such as gastroesophageal reflux, constipation, food protein-induced enterocolitis, and food-induced eosinophilic proctocolitis, with respect to diagnostic strategies that might eliminate the need for a double-blind, placebo-controlled oral food challenge (DBPCFC). A review of pertinent PubMed articles, published during the past 10 years, was performed. To obtain positive and negative predictive values known as posterior probabilities and to calculate the likelihood ratio, only those studies including both patients and control subjects were selected for analysis. With respect to gastroesophageal reflux, a typical 24-hour esophageal pH monitoring pattern might obviate the performance of a DBPCFC in patients with symptoms of reflux suspected of having CMA, provided this pH pattern is confirmed in other studies. A relationship between CMA and constipation has been reported in only one prospective controlled study; the clinical and laboratory variables of perianal lesions, histologic abnormalities, and signs of hypersensitivity had likelihood ratios of 2.2, 2.4, and 3.7, respectively, and posttest probabilities of 83, 84, and 88%, respectively. Therefore, a DBPCFC is warranted. In reference to food protein-induced enterocolitis, clinical and laboratory criteria suggested in the literature for defining a food challenge as positive have not been prospectively evaluated in the untreated state. Some simple stool tests, such as fecal tumor necrosis factor-alpha and alpha1-antitrypsin determination, might be candidates for diagnostic studies in patients with food protein-induced enterocolitis, if prospectively evaluated. In infants with food-induced eosinophilic proctocolitis, rectal biopsy invariably shows eosinophilic infiltration and thus makes performance of a DBPCFC unnecessary. Although the current diagnosis of gastrointestinal manifestations of CMA usually
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Federal Register 2010, 2011, 2012, 2013, 2014
2013-02-20
... Gathering Meetings for the Electronic Manifest (e-Manifest) System AGENCY: Environmental Protection Agency (EPA). ACTION: Notice of public meetings. SUMMARY: EPA's Office of Resource Conservation and Recovery...'') system to capture information regarding the shipment of hazardous waste from the time it leaves the...
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MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab, Ayman W; Adesina, Adekunle M; Jones, Jeremy; Scaglia, Fernando
2015-01-01
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNA(Leu(UUR)). The m.3243A>G mutation results in impaired mitochondrial translation and protein synthesis including the mitochondrial electron transport chain complex subunits leading to impaired mitochondrial energy production. The inability of dysfunctional mitochondria to generate sufficient energy to meet the needs of various organs results in the multi-organ dysfunction observed in MELAS syndrome. Energy deficiency can also stimulate mitochondrial proliferation in the smooth muscle and endothelial cells of small blood vessels leading to angiopathy and impaired blood perfusion in the microvasculature of several organs. These events will contribute to the complications observed in MELAS syndrome particularly the stroke-like episodes. In addition, nitric oxide deficiency occurs in MELAS syndrome and can contribute to its complications. There is no specific consensus approach for treating MELAS syndrome. Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes. Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy. Copyright © 2015 Elsevier Inc. All rights reserved.
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Clinical Manifestations of Helicobacter pylori-Negative Gastritis.
Shiota, Seiji; Thrift, Aaron P; Green, Linda; Shah, Rajesh; Verstovsek, Gordana; Rugge, Massimo; Graham, David Y; El-Serag, Hashem B
2017-07-01
There are data to suggest the existence of non-Helicobacter pylori gastritis. However, the risk factors and clinical course for H pylori-negative gastritis remain unclear. We aimed to examine the prevalence and determinants of H pylori-negative gastritis in a large multiethnic clinical population. We conducted a cross-sectional study among patents scheduled for an elective esophagastroduodenoscopy or attending selected primary care clinics and eligible for screening colonoscopy at a single Veterans Affairs medical center. We identified cases of H pylor-negative gastritis, H pylori-positive gastritis, and H pylori-negative nongastritis, where gastritis was defined by the presence of neutrophils and/or mononuclear cells. Risk factors for H pylori-negative gastritis were analyzed in logistic regression models. A total of 1240 patients had information from all biopsy sites, of whom 695 (56.0%) had gastritis. H pylori-negative gastritis was present in 123 patients (9.9% of all study subjects and 17.7% of all patients with gastritis). Among all patients with gastritis, African Americans were statistically significantly less likely than non-Hispanic whites to have H pylori-negative gastritis (odds ratio, 0.25; 95% confidence interval, 0.14-0.43). Conversely, PPI users were more likely to have H pylori-negative gastritis than H pylori-positive gastritis compared with nonusers (odds ratio, 2.02; 95% confidence interval, 1.17-3.49). The cumulative incidence of gastric erosions and ulcers were higher in patients with H pylori-negative gastritis than H pylori-negative nongastritis. We found that H pylori-negative gastritis was present in approximately 18% of patients with gastritis. The potential for H pylori-negative gastritis to progress or the risk of gastric cancer of those with gastric mucosal atrophy/intestinal metaplasia remains unclear. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.
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Adamu, Haileeyesus; Petros, Beyene; Zhang, Guoqing; Kassa, Hailu; Amer, Said; Ye, Jianbin; Feng, Yaoyu; Xiao, Lihua
2014-04-01
Cryptosporidiosis is an important cause for chronic diarrhea and death in HIV/AIDS patients. Among common Cryptosporidium species in humans, C. parvum is responsible for most zoonotic infections in industrialized nations. Nevertheless, the clinical significance of C. parvum and role of zoonotic transmission in cryptosporidiosis epidemiology in developing countries remain unclear. In this cross-sectional study, 520 HIV/AIDS patients were examined for Cryptosporidium presence in stool samples using genotyping and subtyping techniques. Altogether, 140 (26.9%) patients were positive for Cryptosporidium spp. by PCR-RFLP analysis of the small subunit rRNA gene, belonging to C. parvum (92 patients), C. hominis (25 patients), C. viatorum (10 patients), C. felis (5 patients), C. meleagridis (3 patients), C. canis (2 patients), C. xiaoi (2 patients), and mixture of C. parvum and C. hominis (1 patient). Sequence analyses of the 60 kDa glycoprotein gene revealed a high genetic diversity within the 82 C. parvum and 19 C. hominis specimens subtyped, including C. parvum zoonotic subtype families IIa (71) and IId (5) and anthroponotic subtype families IIc (2), IIb (1), IIe (1) and If-like (2), and C. hominis subtype families Id (13), Ie (5), and Ib (1). Overall, Cryptosporidium infection was associated with the occurrence of diarrhea and vomiting. Diarrhea was attributable mostly to C. parvum subtype family IIa and C. hominis, whereas vomiting was largely attributable to C. hominis and rare Cryptosporidium species. Calf contact was identified as a significant risk factor for infection with Cryptosporidium spp., especially C. parvum subtype family IIa. Results of the study indicate that C. parvum is a major cause of cryptosporidiosis in HIV-positive patients and zoonotic transmission is important in cryptosporidiosis epidemiology in Ethiopia. In addition, they confirm that different Cryptosporidium species and subtypes are linked to different clinical manifestations.
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New evidence on the anatomy and phylogeny of the earliest vertebrates.
Xian-guang, Hou; Aldridge, Richard J; Siveter, David J; Siveter, Derek J; Xiang-hong, Feng
2002-01-01
We report the discovery of a new agnathan specimen from the Lower Cambrian Chengjiang Lagerstätte of China and thereby provide new evidence on the myomeres (V-shaped), the branchial apparatus (gill filaments and arches), the dorsal fin and the gonads (24-26) of the earliest vertebrates. The new specimen and the co-occurring Myllokunmingia fengjiaoa and Haikouichthys ercaicunensis represent a single species, which is a primitive member of the crown group craniates (vertebrates) and post-dates the origin of the myxinoids (hagfish). The origin of the vertebrate clade is at least as old as Early Cambrian. PMID:12350247
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Şenel, Engin; Satılmış, Özgür; Acar, Bilal
2015-01-01
Tularemia is a serious and potentially life-threatening zoonosis caused by Francisella tularensis, a highly infective, gram-negative coccobacillus. Although there are plenty of case reports and studies of tularemia outbreaks, the literature is lacking in reports on dermatologic manifestations of the disease. This study aimed to identify skin manifestations in clinical forms of tularemia. A total of 151 patients diagnosed with tularemia at Çankırı State Hospital, Çankırı, Turkey, were retrospectively examined. Dermatologic data for these patients were assessed. The most frequent clinical manifestation of tularemia was the glandular form (49.7%), followed by the oropharyngeal, ulceroglandular, and oculoglandular forms (39.1, 6.0, and 5.3%, respectively). Physical manifestations were observed in 64.5% of females and 56.9% of males. Lymphadenopathy and tonsillitis were the most frequent physical findings and were noted in 57.6 and 25.2% of patients, respectively. Erythema multiforme was found in 17 patients (11.3%), most of whom presented with the oropharyngeal and glandular forms, and was followed by ulcer (6.0%), urticaria (3.3%), erythema nodosum (2.6%), and cellulitis (0.7%). However, it should be noted that this study was retrospective and that its patient sample demonstrated four of the six clinical forms of tularemia. Patients with the oropharyngeal form of tularemia had statistically significantly more physical findings than those with other clinical forms of the disease (P < 0.001). There were statistically more skin findings in the ulceroglandular form (P < 0.001). There was no statistical correlation between serum antibody titers and cutaneous findings (P = 0.585). Although the literature reports that skin lesions are observed more frequently in women than in men, we did not find any statistically significant difference between the sexes in any type of skin lesion. © 2014 The International Society of Dermatology.
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The earliest bird-line archosaurs and the assembly of the dinosaur body plan.
Nesbitt, Sterling J; Butler, Richard J; Ezcurra, Martín D; Barrett, Paul M; Stocker, Michelle R; Angielczyk, Kenneth D; Smith, Roger M H; Sidor, Christian A; Niedźwiedzki, Grzegorz; Sennikov, Andrey G; Charig, Alan J
2017-04-27
The relationship between dinosaurs and other reptiles is well established, but the sequence of acquisition of dinosaurian features has been obscured by the scarcity of fossils with transitional morphologies. The closest extinct relatives of dinosaurs either have highly derived morphologies or are known from poorly preserved or incomplete material. Here we describe one of the stratigraphically lowest and phylogenetically earliest members of the avian stem lineage (Avemetatarsalia), Teleocrater rhadinus gen. et sp. nov., from the Middle Triassic epoch. The anatomy of T. rhadinus provides key information that unites several enigmatic taxa from across Pangaea into a previously unrecognized clade, Aphanosauria. This clade is the sister taxon of Ornithodira (pterosaurs and birds) and shortens the ghost lineage inferred at the base of Avemetatarsalia. We demonstrate that several anatomical features long thought to characterize Dinosauria and dinosauriforms evolved much earlier, soon after the bird-crocodylian split, and that the earliest avemetatarsalians retained the crocodylian-like ankle morphology and hindlimb proportions of stem archosaurs and early pseudosuchians. Early avemetatarsalians were substantially more species-rich, widely geographically distributed and morphologically diverse than previously recognized. Moreover, several early dinosauromorphs that were previously used as models to understand dinosaur origins may represent specialized forms rather than the ancestral avemetatarsalian morphology.
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Renal manifestations of human brucellosis: First report of minimal change disease.
Sabanis, Nikolaos; Gavriilaki, Eleni; Paschou, Eleni; Tsotsiou, Eleni; Kalaitzoglou, Asterios; Kavlakoudis, Christos; Vasileiou, Sotirios
2016-05-01
Human brucellosis is considered a great example of the complexity of clinical manifestations possibly affecting multiple organs or systems. Renal manifestations of human brucellosis have been documented in few case reports and one case series. Herein, we present a case of Nephrotic syndrome (NS) due to minimal change disease in the course of acute brucellosis. A 53-year-old male farmer was admitted to our department with acute brucellosis and NS. Renal biopsy revealed minimal change disease. Combined treatment with prednisone (1 mg/kg), rifampicin (600 mg/day), and doxycycline (200 mg/day) was initiated. Complete remission of NS was achieved at the end of the fourth week. One year later, the patient remained in complete remission of NS without any sign of relapse of brucellosis.
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Infantile Amnesia across the Years: A 2-Year Follow-Up of Children's Earliest Memories
ERIC Educational Resources Information Center
Peterson, Carole; Warren, Kelly L.; Short, Megan M.
2011-01-01
Although infantile amnesia has been investigated for many years in adults, only recently has it been investigated in children. This study was a 2-year follow-up and extension of an earlier study. Children (4-13 years old) were asked initially and 2 years later for their earliest 3 memories. At follow-up, their age at the time of these memories…
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Freischmidt, Axel; Müller, Kathrin; Zondler, Lisa; Weydt, Patrick; Volk, Alexander E; Božič, Anže Lošdorfer; Walter, Michael; Bonin, Michael; Mayer, Benjamin; von Arnim, Christine A F; Otto, Markus; Dieterich, Christoph; Holzmann, Karlheinz; Andersen, Peter M; Ludolph, Albert C; Danzer, Karin M; Weishaupt, Jochen H
2014-11-01
Knowledge about the nature of pathomolecular alterations preceding onset of symptoms in amyotrophic lateral sclerosis is largely lacking. It could not only pave the way for the discovery of valuable therapeutic targets but might also govern future concepts of pre-manifest disease modifying treatments. MicroRNAs are central regulators of transcriptome plasticity and participate in pathogenic cascades and/or mirror cellular adaptation to insults. We obtained comprehensive expression profiles of microRNAs in the serum of patients with familial amyotrophic lateral sclerosis, asymptomatic mutation carriers and healthy control subjects. We observed a strikingly homogenous microRNA profile in patients with familial amyotrophic lateral sclerosis that was largely independent from the underlying disease gene. Moreover, we identified 24 significantly downregulated microRNAs in pre-manifest amyotrophic lateral sclerosis mutation carriers up to two decades or more before the estimated time window of disease onset; 91.7% of the downregulated microRNAs in mutation carriers overlapped with the patients with familial amyotrophic lateral sclerosis. Bioinformatic analysis revealed a consensus sequence motif present in the vast majority of downregulated microRNAs identified in this study. Our data thus suggest specific common denominators regarding molecular pathogenesis of different amyotrophic lateral sclerosis genes. We describe the earliest pathomolecular alterations in amyotrophic lateral sclerosis mutation carriers known to date, which provide a basis for the discovery of novel therapeutic targets and strongly argue for studies evaluating presymptomatic disease-modifying treatment in amyotrophic lateral sclerosis. © The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
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Unspecific clinical manifestation of cauda equina myxopapillary ependymoma
Kariev, Gayrat Maratovich; Halikulov, Elbek Shodievich; Rasulov, Shavkat Orzikuloviich
2015-01-01
A 9-year-old boy admitted to the neurosurgical hospital complaining of headache, vomiting, abdominal pain, and weakness in the arms and legs, urinary retention. Previously, the patient had a treatment of pediatricians. He was examined, magnetic resonance imaging revealed the tumor of the conus medullaris and cauda equina. The surgery was performed with removal myxopapillary ependymoma (ME). Postoperative neurological symptoms regressed; he has received radiotherapy postoperatively. This case illustrates a rare clinical presentation of ME, which simulated intracranial, thoracic, and caudal pathology. We presented features of the clinical presentation, diagnostics, and treatment options of this ependymoma. PMID:26396623
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40 CFR 263.25 - Electronic manifest signatures.
Code of Federal Regulations, 2014 CFR
2014-07-01
... 40 Protection of Environment 26 2014-07-01 2014-07-01 false Electronic manifest signatures. 263.25 Section 263.25 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) SOLID WASTES... Recordkeeping § 263.25 Electronic manifest signatures. (a) Electronic manifest signatures shall meet the...
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Chen, Mayun; Wang, Xiaomi; Yu, Xianjuan; Dai, Caijun; Chen, Dunshun; Yu, Chang; Xu, Xiaomei; Yao, Dan; Yang, Li; Li, Yuping; Wang, Liangxing; Huang, Xiaoying
2015-09-22
Cryptococcus neoformans infection usually presents as chronic meningitis and is increasingly being recognized in immunocompromised patients. Presentation with pleural effusion is rare in cryptococcal disease; in fact, only 4 cases of pleural effusion as the initial clinical presentation in cryptococcosis have been reported in English-language literature to date. We report the first case of pleural effusion as the initial clinical presentation in a renal transplant recipient who was initially misdiagnosed with tuberculous pleuritis but who then developed fungaemia and disseminated cryptococcosis. The examination of this rare manifestation and the accompanying literature review will contribute to increased recognition of the disease and a reduction in misdiagnoses. We describe a 63-year-old male renal transplant recipient on an immunosuppressive regimen who was admitted for left pleural effusion and fever. Cytological examinations and pleural fluid culture were nonspecific and negative. Thoracoscopy only found chronic, nonspecific inflammation with fibrosis in the pleura. After empirical anti-tuberculous therapy, the patient developed an elevated temperature, a severe headache and vomiting and fainted in the ward. Cryptococci were specifically found in the cerebrospinal fluid following lumbar puncture. Blood cultures were twice positive for C. neoformans one week later. He was transferred to the respiratory intensive care unit (RICU) immediately and was placed on non-invasive ventilation for respiratory failure for 2 days. He developed meningoencephalitis and fungaemia with C. neoformans during hospitalization. He was given amphotericin B liposome combined with 5-flucytosine and voriconazole for first 11 days, then amphotericin B liposome combined with 5-flucytosine sustained to 8 weeks, after that changed to fluconazole for maintenance. His condition improved after antifungal treatment, non-invasive ventilation and other support. Further pathological consultation
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Cutaneous Manifestations of Crohn Disease.
Hagen, Joshua W; Swoger, Jason M; Grandinetti, Lisa M
2015-07-01
Awareness of the extraintestinal manifestations of Crohn disease is increasing in dermatology and gastroenterology, with enhanced identification of entities that range from granulomatous diseases recapitulating the underlying inflammatory bowel disease to reactive conditions and associated dermatoses. In this review, the underlying etiopathology of Crohn disease is discussed, and how this mirrors certain skin manifestations that present in a subset of patients is explored. The array of extraintestinal manifestations that do not share a similar pathology, but which are often seen in association with inflammatory bowel disease, is also discussed. Treatment and pathogenetic mechanisms, where available, are discussed. Copyright © 2015 Elsevier Inc. All rights reserved.
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Mucocutaneous Manifestations in Patients with Chronic Kidney Disease: A Cross-sectional Study.
Rashpa, Rattan S; Mahajan, Vikram K; Kumar, Pankaj; Mehta, Karaninder S; Chauhan, Pushpinder S; Rawat, Ritu; Sharma, Vikas
2018-01-01
Chronic kidney disease (CKD)-associated mucocutaneous manifestations significantly impair the quality of life but often remain understudied. They may also vary across regions, socioeconomic and nutritional status, and racial differences. To study the patterns of mucocutaneous disorders and their prevalence in CKD patients irrespective of clinical stage or dialysis status. 122 (M:F = 77:45) patients aged 21‒85 (Mean ± SD = 57.5 ± 14.0) years having CKD for 3 month to 5 years were studied for mucocutaneous manifestations. Fifty (41%) patients were on hemodialysis for 1‒42 months. Detailed medical history, clinical and mucocutaneous examination, and lab investigations were performed. KOH mounts, skin biopsy, Gram's and Giemsa staining, bacterial or fungal cultures were performed as required. Xerosis in 93 (76.2%), skin pallor in 61 (50%), pruritus in 57 (46.7%), pigmentation in 47 (38.5%), and purpura in 18 (14.8%) patients were the major dermatoses. Bullous lesions and perforating folliculitis occurred in 3 (2.5%) patients each. Major nail abnormalities were pallor (in 35.2%), absent lunula (in 23.8%), nail discoloration (in 18%), and "half-and-half nails" in 16.4% patients, respectively. Hair abnormalities included sparse scalp and body hairs (in 35.2% and 13.1%, respectively) and lusterless hair in 12.3% patients. Coated tongue (in 14.8%), xerostomia (in 12.3%), and macroglossia with teeth indention (in 7.4%) patients were the mucosal manifestations. Xerosis, pruritus, skin pallor/pigmentary changes, nail pallor, absent lunula, nail discoloration, sparse hairs, coated tongue, xerostomia, macroglossia, and infections were the most common mucocutaneous manifestations in the studied patients irrespective of hemodialysis status. Cold and dry climates might be additional aggravators for xerosis/pruritus. Lifelong follow-up may be needed to reduce the morbidity associated with CKD/hemodialysis specific dermatoses appearing over a period.
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Mucocutaneous Manifestations in Patients with Chronic Kidney Disease: A Cross-sectional Study
Rashpa, Rattan S.; Mahajan, Vikram K.; Kumar, Pankaj; Mehta, Karaninder S.; Chauhan, Pushpinder S.; Rawat, Ritu; Sharma, Vikas
2018-01-01
Background: Chronic kidney disease (CKD)-associated mucocutaneous manifestations significantly impair the quality of life but often remain understudied. They may also vary across regions, socioeconomic and nutritional status, and racial differences. Objectives: To study the patterns of mucocutaneous disorders and their prevalence in CKD patients irrespective of clinical stage or dialysis status. Materials and Methods: 122 (M:F = 77:45) patients aged 21‒85 (Mean ± SD = 57.5 ± 14.0) years having CKD for 3 month to 5 years were studied for mucocutaneous manifestations. Fifty (41%) patients were on hemodialysis for 1‒42 months. Detailed medical history, clinical and mucocutaneous examination, and lab investigations were performed. KOH mounts, skin biopsy, Gram's and Giemsa staining, bacterial or fungal cultures were performed as required. Results: Xerosis in 93 (76.2%), skin pallor in 61 (50%), pruritus in 57 (46.7%), pigmentation in 47 (38.5%), and purpura in 18 (14.8%) patients were the major dermatoses. Bullous lesions and perforating folliculitis occurred in 3 (2.5%) patients each. Major nail abnormalities were pallor (in 35.2%), absent lunula (in 23.8%), nail discoloration (in 18%), and “half-and-half nails” in 16.4% patients, respectively. Hair abnormalities included sparse scalp and body hairs (in 35.2% and 13.1%, respectively) and lusterless hair in 12.3% patients. Coated tongue (in 14.8%), xerostomia (in 12.3%), and macroglossia with teeth indention (in 7.4%) patients were the mucosal manifestations. Conclusions: Xerosis, pruritus, skin pallor/pigmentary changes, nail pallor, absent lunula, nail discoloration, sparse hairs, coated tongue, xerostomia, macroglossia, and infections were the most common mucocutaneous manifestations in the studied patients irrespective of hemodialysis status. Cold and dry climates might be additional aggravators for xerosis/pruritus. Lifelong follow-up may be needed to reduce the morbidity associated with CKD
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Oral manifestations of paracoccidioidomycosis. Report of 21 cases from Argentina.
Godoy, H; Reichart, P A
2003-01-01
The present study describes 21 Argentinian patients living in the province of Corrientes, who had developed oral manifestations due to Paracoccidioides brasiliensis infection. Of these, 20 patients were men and one a woman. Patients were of an average age of 39 years (range 25 to 72 years). Approximately, 76.2% of the patients were farmers. Gingival lesions were observed in 76%. Also, the tongue (71%) and the lips (62%) were frequently affected. Cytological smears and histopathology showed the characteristic fungal cells with the characteristic granulomatous inflammatory reaction consisting of lymphocytes, epithelioid cells and giant cells of the Langhans type. All patients except one had detectable pulmonary involvement. Therapy consists of long-term administration of itraconazole. Oral manifestations of paracoccidioidomycosis are characteristic in their clinical presentation. Early diagnosis and adequate therapy may prevent extensive tissue destructions. Long-term follow-up is mandatory.
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The earliest fossil evidence for sexual dimorphism in primates
NASA Technical Reports Server (NTRS)
Krishtalka, Leonard; Stucky, Richard K.; Beard, K. C.
1990-01-01
Recently obtained material of the early Eocene primate Notharctus venticolus, including two partial skulls from a single stratigraphic horizon, provides the geologically earliest evidence of sexual dimorphism in canine size and shape in primates and the only unequivocal evidence for such dimorphism in strepsirhines. By analogy with living platyrrhines, these data suggest that Notharctus venticolus may have lived in polygynous social groups characterized by a relatively high level of intermale competition for mates and other limited resources. The anatomy of the upper incisors and related evidence imply that Notharctus is not as closely related to extant lemuriform primates as has been recently proposed. The early Eocene evidence for canine sexual dimorphism reported here, and its occurrence in a nonanthropoid, indicates that in the order Primates such a condition is either primitive or evolved independently more than once.
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Ultrasonic hearing and echolocation in the earliest toothed whales.
Park, Travis; Fitzgerald, Erich M G; Evans, Alistair R
2016-04-01
The evolution of biosonar (production of high-frequency sound and reception of its echo) was a key innovation of toothed whales and dolphins (Odontoceti) that facilitated phylogenetic diversification and rise to ecological predominance. Yet exactly when high-frequency hearing first evolved in odontocete history remains a fundamental question in cetacean biology. Here, we show that archaic odontocetes had a cochlea specialized for sensing high-frequency sound, as exemplified by an Oligocene xenorophid, one of the earliest diverging stem groups. This specialization is not as extreme as that seen in the crown clade. Paired with anatomical correlates for high-frequency signal production in Xenorophidae, this is strong evidence that the most archaic toothed whales possessed a functional biosonar system, and that this signature adaptation of odontocetes was acquired at or soon after their origin. © 2016 The Author(s).
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[Cutaneous and mucosal manifestations associated with cocaine use].
Imbernón-Moya, Adrián; Chico, Ricardo; Aguilar-Martínez, Antonio
2016-06-17
Complications due to cocaine are a public health problem. The typical cutaneous disease is leukocytoclastic vasculitis and/or thrombotic vasculopathy affecting mainly the ears. No intense systemic involvement is usually present, but there may be several cutaneous, mucosal and systemic manifestations. Other findings associated as arthralgia, neutropaenia or agranulocytosis, low titer positive antinuclear antibodies, antiphospholipid antibody positivity and neutrophil cytoplasmic antibodies against multiple antigens help the diagnosis. This disease requires a clinical suspicion with a clinical history, a complete physical examination and a broad differential diagnosis for an early and correct diagnosis. The course is usually self-limited. In most cases the only treatment is to discontinue the use of cocaine associated with symptomatic treatment, no proven benefit of systemic corticosteroids. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.
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[Transcient ischemic attack, a rare manifestation of Eagle syndrome].
Usseglio, J; Montoro, F Macian; Martin, S; Lerat, J; Laloze, J; Taibi, A; Brie, J
2016-12-01
Clinical presentation of Eagle syndrome (ES) is very variable and non-specific, making its diagnosis difficult. It is usually limited to pain. Transient neurological manifestations are exceptional. We report one case in which the diagnosis of ES has been made based on neurological events occurring during left anterolateral head bending, without pain. A 47-year-old man presented with transient neurological events progressing since two years, half-right body paresthesia and reduced field of vision on the left side type, triggered by left anterolateral head flexion and regressive in neutral position. Transcranial Doppler and CT angiography of the supra-aortic trunks were performed in neutral position and in right and left head rotation that showed a disruption of the left sylvian flow and an extrinsic compression of the left internal carotid artery, due to a musculoskeletal impediment involving the lower end of the temporal styloid process. Complete recovering was achieved after surgical resection of this process. A control CT angiography confirmed the cessation of the compression. ES has non-specific and highly variable clinical manifestations making diagnosis difficult or leading to misdiagnosis. ES should be considered in any transient neurological deficit, especially when occurring during head rotation. Treatment relies on surgical resection of the excessively long styloid process. Copyright © 2016 Elsevier Masson SAS. All rights reserved.
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19 CFR 122.48 - Air cargo manifest.
Code of Federal Regulations, 2012 CFR
2012-04-01
... 19 Customs Duties 1 2012-04-01 2012-04-01 false Air cargo manifest. 122.48 Section 122.48 Customs... AIR COMMERCE REGULATIONS Aircraft Entry and Entry Documents; Electronic Manifest Requirements for..., and Overflying the United States § 122.48 Air cargo manifest. (a) When required. Except as provided in...
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19 CFR 122.48 - Air cargo manifest.
Code of Federal Regulations, 2013 CFR
2013-04-01
... 19 Customs Duties 1 2013-04-01 2013-04-01 false Air cargo manifest. 122.48 Section 122.48 Customs... AIR COMMERCE REGULATIONS Aircraft Entry and Entry Documents; Electronic Manifest Requirements for..., and Overflying the United States § 122.48 Air cargo manifest. (a) When required. Except as provided in...
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19 CFR 122.48 - Air cargo manifest.
Code of Federal Regulations, 2010 CFR
2010-04-01
... 19 Customs Duties 1 2010-04-01 2010-04-01 false Air cargo manifest. 122.48 Section 122.48 Customs... AIR COMMERCE REGULATIONS Aircraft Entry and Entry Documents; Electronic Manifest Requirements for..., and Overflying the United States § 122.48 Air cargo manifest. (a) When required. Except as provided in...
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19 CFR 122.48 - Air cargo manifest.
Code of Federal Regulations, 2011 CFR
2011-04-01
... 19 Customs Duties 1 2011-04-01 2011-04-01 false Air cargo manifest. 122.48 Section 122.48 Customs... AIR COMMERCE REGULATIONS Aircraft Entry and Entry Documents; Electronic Manifest Requirements for..., and Overflying the United States § 122.48 Air cargo manifest. (a) When required. Except as provided in...
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49 CFR 176.30 - Dangerous cargo manifest.
Code of Federal Regulations, 2012 CFR
2012-10-01
... 49 Transportation 2 2012-10-01 2012-10-01 false Dangerous cargo manifest. 176.30 Section 176.30... Requirements § 176.30 Dangerous cargo manifest. (a) The carrier, its agents, and any person designated for this purpose by the carrier or agents shall prepare a dangerous cargo manifest, list, or stowage plan. This...
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49 CFR 176.30 - Dangerous cargo manifest.
Code of Federal Regulations, 2014 CFR
2014-10-01
... 49 Transportation 2 2014-10-01 2014-10-01 false Dangerous cargo manifest. 176.30 Section 176.30... Requirements § 176.30 Dangerous cargo manifest. (a) The carrier, its agents, and any person designated for this purpose by the carrier or agents must prepare a dangerous cargo manifest, list, or stowage plan. This...
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49 CFR 176.30 - Dangerous cargo manifest.
Code of Federal Regulations, 2011 CFR
2011-10-01
... 49 Transportation 2 2011-10-01 2011-10-01 false Dangerous cargo manifest. 176.30 Section 176.30... Requirements § 176.30 Dangerous cargo manifest. (a) The carrier, its agents, and any person designated for this purpose by the carrier or agents shall prepare a dangerous cargo manifest, list, or stowage plan. This...
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49 CFR 176.30 - Dangerous cargo manifest.
Code of Federal Regulations, 2013 CFR
2013-10-01
... 49 Transportation 2 2013-10-01 2013-10-01 false Dangerous cargo manifest. 176.30 Section 176.30... Requirements § 176.30 Dangerous cargo manifest. (a) The carrier, its agents, and any person designated for this purpose by the carrier or agents must prepare a dangerous cargo manifest, list, or stowage plan. This...
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Unusual ocular clinical manifestation of leptospirosis.
Asensio-Sánchez, V M; Haro-Álvarez, B; Herreras, J; Martín-Prieto, A
2018-02-01
An uncommon case is presented of a 15 year-old girl with bilateral, multiple serous detachments of retina and retinal pigment epithelium. With clinical and laboratory (IgG 1/160 and IgM 1/160, using an indirect immunofluorescence assay) diagnoses of leptospirosis, a complete ophthalmic examination, fluorescein angiography, autofluorescence and optical coherence tomography were performed, and the patient was followed for two years. Bilateral, multiple serous detachments of retina and retinal pigment epithelium can be a complication of systemic leptospirosis, a zoonotic disease caused by Leptospira. Without a detailed medical history it may be underdiagnosed, mainly because it can mimic other more common diseases. It may be prudent to ask patients regarding contact with pets. Copyright © 2018 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.
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Recurrent Fever, Anemia, Arthralgia, and Genu Varum as Late Manifestations of Congenital Syphilis.
Quaresma, Liliana; Gonçalves, Juan; Estanqueiro, Paula; Salgado, Manuel
2015-12-01
We report an unusual case of recurrent fever, inflammatory knee pain, genu varum, persistent anemia, and high erythrocyte sedimentation rate in a 28-month-old boy as late manifestations of congenital syphilis (CS). Despite standard penicillin treatment at the end of the first month of life, it recurred later in life, more than once. In the first relapse, manifested by a likely gumma lesion, the prior penicillin treatment plus a negative venereal disease research laboratory result unduly led to exclusion of CS. A second treatment with penicillin led to complete clinical resolution. Although rare, bow legs, recurrent fever, anemia, and inflammatory arthralgias may be manifestations of late CS. Congenital syphilis should be considered throughout early childhood, especially if history of syphilis infection is present. A negative venereal disease research laboratory result does not exclude late syphilis, present in nearly 30% of these patients. The possibility of atypical symptoms of this "great masquerader" should always be borne in mind.
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Edwards, Dianne; Kenrick, Paul; Dolan, Liam
2018-02-05
The Rhynie cherts Unit is a 407 million-year old geological site in Scotland that preserves the most ancient known land plant ecosystem, including associated animals, fungi, algae and bacteria. The quality of preservation is astonishing, and the initial description of several plants 100 years ago had a huge impact on botany. Subsequent discoveries provided unparalleled insights into early life on land. These include the earliest records of plant life cycles and fungal symbioses, the nature of soil microorganisms and the diversity of arthropods. Today the Rhynie chert (here including the Rhynie and Windyfield cherts) takes on new relevance, especially in relation to advances in the fields of developmental genetics and Earth systems science. New methods and analytical techniques also contribute to a better understanding of the environment and its organisms. Key discoveries are reviewed, focusing on the geology of the site, the organisms and the palaeoenvironments. The plants and their symbionts are of particular relevance to understanding the early evolution of the plant life cycle and the origins of fundamental organs and tissue systems. The Rhynie chert provides remarkable insights into the structure and interactions of early terrestrial communities, and it has a significant role to play in developing our understanding of their broader impact on Earth systems.This article is part of a discussion meeting issue 'The Rhynie cherts: our earliest terrestrial ecosystem revisited'. © 2017 The Author(s).
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Giugliani, Roberto; Harmatz, Paul; Mendelsohn, Nancy J.; Jego, Virginie; Parini, Rossella
2017-01-01
Several cases of phenotypic variability among family members with mucopolysaccharidosis type II (MPS II) have been reported, but the data are limited. Data from patients enrolled in the Hunter Outcome Survey (HOS) were used to investigate intrafamilial variability in male siblings with MPS II. As of July 2015, data were available for 78 patients aged ≥5 years at last visit who had at least one affected sibling (39 sibling pairs). These patients were followed prospectively (i.e., they were alive at enrollment in HOS). The median age at the onset of signs and symptoms was the same for the elder and younger brothers (2.0 years); however, the younger brothers were typically diagnosed at a younger age than the elder brothers (median age, 2.5 and 5.1 years, respectively). Of the 39 pairs, eight pairs were classified as being discordant (the status of four or more signs and symptoms differed between the siblings); 21 pairs had one, two, or three signs and symptoms that differed between the siblings, and 10 pairs had none. Regression status of the majority of the developmental milestones studied was generally concordant among siblings. Functional classification, a measure of central nervous system involvement, was the same in 24/28 pairs, although four pairs were considered discordant as functional classification differed between the siblings. Overall, this analysis revealed similarity in the clinical manifestations of MPS II among siblings. This information should help to improve our understanding of the clinical presentation of the disease, including phenotype prediction in affected family members. PMID:29210515
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Issac, Thomas Gregor; Telang, Ashay Vivek; Chandra, Sadanandavalli Retnaswami
2018-01-01
Frontotemporal dementia (FTD) is the most common form of dementia in the younger age group and often exists with comorbid obsessions and compulsions in up to 80% of the patients. Trichotillomania or compulsive “hair-pulling” disorder is a rare manifestation of FTD and is a poorly evaluated symptom in this condition. The release of “grooming functions” due to frontal disinhibition is often attributed to the evolutionary perspective; however, recent findings also implicate the role of neurotransmitter dysfunction. Trichotillomania is currently classified under obsessive and compulsive behavioral spectrum disorders and is often encountered in the younger population with research evidence of response to selective serotonin reuptake inhibitors (SSRIs), antipsychotics, and newer drugs such as N-acetyl cysteine. The role of behavioral therapy also has robust evidence in trichotillomania. We herewith report the case of a middle-aged male patient who presented with features of personality change and behavioral problems in terms of anger, agitation, and disinhibitory behavior who on detailed clinical evaluation and radiological assessment had features consistent with behavioral variant of FTD along with compulsive “hair plucking” behavior which responded minimally with SSRIs. FTD can have features of trichotillomania which is an often overlooked and relatively uncommon manifestation of dementias. Treatment options such as N-acetyl cysteine and behavioral therapy could have potential utility in this degenerative condition hitherto at an earlier stage. PMID:29769783
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Cai, Li; Zhang, Chenxing; Wu, Jing; Zhou, Wei; Chen, Tongxin
2018-03-30
Programmed cell death-1 (PD-1) and its ligand (PD-L1) mediate negative signal in autoimmune diseases. While little is known about its role in juvenile idiopathic arthritis (JIA). The study aimed to reveal the circulating cell profile and the relative PD-1/PD-L1 expression of JIA subsets, elucidating their underlying immunomodulatory mechanisms. We detected the circulating cells and the relative PD-1/PD-L1 signaling in 101 JIA patients and 50 controls by flow cytometry and analyzed their association with disease activity and clinical manifestations. Different from other JIA types, active systemic JIA (sJIA) patients had lower percentage and count of CD4 + T cells and lower PD-1 expression on them compared with healthy controls (P<0.05), active polyarthritis (P<0.05) and enthesitis-related arthritis (ERA) patients (P<0.05). Also, they had higher percentage and count of myeloid dendritic cell (mDC) and lower PD-L1 expression on mDC compared with healthy controls (P<0.05). Both PD-1 on CD4 + T cell and PD-L1 on mDC were negatively correlated with JADAS-27 in sJIA patients (P<0.05). In addition, PD-1 expression on CD4 + T cell was negatively associated with the number of involved joints (P<0.05) and PD-L1 on mDC was lower in patients with fever (P<0.01), which could further divide patients into two groups of different manifestations. Our finding displayed decreased CD4 + T cell, increased mDC and reduced PD-1/PD-L1 signal in sJIA PBMC comparing with other JIA subsets, which might be helpful in JIA differential diagnosis and responsible for distinct clinical manifestations via different mechanisms. Copyright © 2018 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.
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Lugo Reyes, Saul Oswaldo; Ramirez-Vazquez, Guadalupe; Cruz Hernández, Alonso; Medina-Torres, Edgar A; Ramirez-Lopez, Ana Belen; España-Cabrera, Corín; Hernandez-Lopez, Citlali A; Yamazaki-Nakashimada, Marco A; Espinosa-Rosales, Francisco J; Espinosa-Padilla, Sara E; Murata, Chiharu
2016-01-01
The hallmark of Primary immunodeficiencies (PID) is unusual infection, although other immunological non-infectious manifestations such as autoimmunity, allergy and cancer are often present. Most published reports focus on one disease or defect groups, so that a global prevalence of non-infectious manifestations of PID is hard to find. We aimed to describe the clinical features of our pediatric patients with PID, as well as the frequency and evolution of allergy, cancer and autoimmunity. We reviewed all the available charts of patients being followed for PID from 1991 to the spring of 2012 at the National Institute of Pediatrics, Mexico City, to describe their demographic, clinical and laboratory features. Their diagnoses were established by pediatric immunologists in accordance to ESID criteria, including routine immunological workup and specialized diagnostic assays. We divided patients by decade of diagnosis to analyze their survival curves. There were 168 charts available, from which we excluded one duplicate and six equivocal diagnoses. We studied the charts of 161 PID patients (68% male, 86% alive), mostly from the center of the country, with a positive family history in 27% and known consanguinity in 11%. Eighty percent of the patients were diagnosed during the last decade. Current median age was 124 months; median age at onset of infections, 12 months; median age at diagnosis, 52 months; median age at death, 67.5 months. Severe infection and bleeding were the cause of 22 deaths. Eighty-six percent of all patients had at least one infection, while non-infectious manifestations had a global prevalence of 36%, namely: autoimmunity 19%, allergies 17%, and cancer 2.4%. Survival curves were not significantly different when compared by decade of diagnosis. Compared to other registry reports, we found a lower prevalence of antibody defects, and of associated allergy and cancer. We could only locate two isolated IgA deficiencies and four cases of cancer among our PID
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Clinical manifestations of trisomy 4p syndrome.
Patel, S V; Dagnew, H; Parekh, A J; Koenig, E; Conte, R A; Macera, M J; Verma, R S
1995-06-01
Trisomy 4p syndrome is a distinct clinical entity which was noted almost a quarter century ago by Wilson et al. [71] and later was delineated by Gonzalez and colleagues [29]. The variation in the length of duplicated segment usually associated with monosomy of other genetic material which has resulted in confusion and as a result a so-called 4p syndrome could not be recognized without cytogenetic analysis. We wish to draw the attention of clinicians to this subject by presenting the description of over 75 cases including one from our clinic and stress the point that molecular approaches are imperative to characterize this anomaly. After extensive review, it appears that patients retaining at least the distal two-thirds to the entire short arm share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia, pointed chin, short neck with low hairline, enlarged ears with abnormal helix and antihelix, rocker-bottom feet with prominent heel. Arachnodactyly and camptodactyly. Molecular characterization of 4p is imperative. We have also included an extensive bibliography for clinicians who may find it useful as a single reference source for evaluating their future cases. The 4p-syndrome is a distinct entity but without cytogenetic evaluation, the syndrome can not be recognized.
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Osteo-articular manifestations of amyloidosis.
M'bappé, Pauline; Grateau, Gilles
2012-08-01
other cases, it is only one elementary lesion of the disease and its role is controversial. The amyloidosis responsible for osteo-articular manifestations are the AL immunoglobulin amyloidosis, the beta2-microglobulin amyloidosis in patients under haemodialysis and finally the amyloidosis of transthyretin (genetic and senile). Rheumatological manifestations of immunoglobulin amyloidosis are numerous and often indicative of the disease. Deposits affect joint and periarticular structures. The most common presentation is a progressively developing bilateral symmetric polyarthritis with negative immunology and absent specific structural abnormalities. Carpal tunnel syndrome (CTS) is very common and should suggest the aetiology. Other clinical representations are rarer as an isolated bone tumour (amyloidoma) or integrating systemic AL amyloidosis. β 2-Microglobulin amyloidosis occurs in patients under chronic haemodialysis. It is responsible for CTS, arthralgia and above all a specific destructive spondyloarthropathy. The transthyretin amyloidosis also causes CTS. Copyright © 2012 Elsevier Ltd. All rights reserved.
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Gene Therapy for Neurologic Manifestations of Mucopolysaccharidoses
Wolf, Daniel A.; Banerjee, Sharbani; Hackett, Perry B.; Whitley, Chester B.; McIvor, R. Scott; Low, Walter C.
2015-01-01
Introduction Mucopolysaccharidoses are a family of lysosomal disorders caused by mutations in genes that encode enzymes involved in the catabolism of glycoaminoglycans. These mutations affect multiple organ systems and can be particularly deleterious to the nervous system. At the present time, enzyme replacement therapy and hematopoietic stem-cell therapy are used to treat patients with different forms of these disorders. However, to a great extent the nervous system is not adequately responsive to current therapeutic approaches. Areas Covered Recent advances in gene therapy show great promise for treating mucopolysaccharidoses. This article reviews the current state of the art for routes of delivery in developing genetic therapies for treating the neurologic manifestations of mucopolysaccharidoses. Expert Opinion Gene therapy for treating neurological manifestations of mucopolysaccharidoses can be achieved by intraventricular, intrathecal, intranasal, and systemic administration. The intraventricular route of administration appears to provide the most wide-spread distribution of gene therapy vectors to the brain. The intrathecal route of delivery results in predominant distribution to the caudal areas of the brain while the intranasal route of delivery results in good distribution to the rostral areas of brain. The systemic route of delivery via intravenous delivery can also achieve wide spread delivery to the CNS, however, the distribution to the brain is greatly dependent on the vector system. Intravenous delivery using lentiviral vectors appear to be less effective than adeno-associated viral (AAV) vectors. Moreover, some subtypes of AAV vectors are more effective than others in crossing the blood-brain-barrier. In summary, the recent advances in gene vector technology and routes of delivery to the CNS will facilitate the clinical translation of gene therapy for the treatment of the neurological manifestations of mucopolysaccharidoses. PMID:25510418
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Alonso-Varela, Marta; Gil-Peña, Helena; Coto, Eliecer; Gómez, Juan; Rodríguez, Julián; Rodríguez-Rubio, Enrique; Santos, Fernando
2018-05-03
To evaluate whether there are differences in the phenotype of primary distal renal tubular acidosis (dRTA) patients according to the causal defective gene. Twenty-seven non-oriental patients with genetically confirmed dRTA were grouped according to the identified underlying mutations in either ATP6V1B1 (n = 10), ATP6V0A4 (n = 12), or SLC4A1 (n = 5) gene. Demographic features, growth impairment, biochemical variables and presence of deafness, nephrocalcinosis, and urolithiasis at diagnosis were compared among the three groups. Patients with SLC4A1 mutations presented later than those with ATP6V1B1 or ATP6V0A4 defects (120 vs. 7 and 3 months, respectively). Hearing loss at diagnosis was present in the majority of patients with ATP6V1B1 mutations, in two patients with ATP6V0A4 mutations, and in none of cases harboring SLC4A1 mutations. Serum potassium concentration (X ± SD) was higher in SLC4A1 group (3.66 ± 0.44 mEq/L) than in ATP6V0A4 group (2.96 ± 0.63 mEq/L) (p = 0.046). There were no differences in the other clinical or biochemical variables analyzed in the three groups. This study indicates that non-oriental patients with dRTA caused by mutations in the SLC4A1 gene present later and have normokalemia or milder hypokalemia. Hypoacusia at diagnosis is characteristically associated with ATP6V1B1 gene mutations although it may also be present in infants with ATP6V0A4 defects. Other phenotypical manifestations do not allow predicting the involved gene.
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40 CFR 761.210 - Manifest discrepancies.
Code of Federal Regulations, 2011 CFR
2011-07-01
... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.210 Manifest discrepancies. (a) Manifest... commercial storage or disposal facility shall attempt to reconcile the discrepancy with the waste generator... Section 761.210 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES...
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40 CFR 761.210 - Manifest discrepancies.
Code of Federal Regulations, 2012 CFR
2012-07-01
... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.210 Manifest discrepancies. (a) Manifest... commercial storage or disposal facility shall attempt to reconcile the discrepancy with the waste generator... Section 761.210 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES...
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Cuestas, Giselle; Rodríguez, Verónica; Doormann, Flavia; Pringe, Alejandra; Bellia Munzón, Patricio; Bellia Munzón, Gastón; Ortega, Carlos; Álvarez, Rubén
2017-04-01
Wegener's granulomatosis is a necrotizing granulomatous vasculitis of autoimmune origin that primarily affects the upper and lower airways and kidneys. It is very rare in children and adolescents. When started at a young age it is often associated with subglottic stenosis. Subglottic stenosis is a potentially fatal manifestation of Wegener's granulomatosis. Its diagnosis requires a high index of suspicion since it might develop in the absence of other signs of activity. Occasionally, subglottic stenosis may present as the initial manifestation of the disease. Diagnosis is confirmed by endoscopic visualization of the lesion. The treatment is complex, and it often requires repeated interventions due to restenosis. We present a 13-year-old patient with subglottic stenosis secondary to Wegener's granulomatosis. We describe the clinical manifestations, diagnosis and treatment of this rare cause of respiratory distress in the pediatric population. Sociedad Argentina de Pediatría.
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Nurminen, Samuli; Kivelä, Laura; Huhtala, Heini; Kaukinen, Katri; Kurppa, Kalle
2018-03-22
This study investigated the prevalence of extraintestinal manifestations (EIM) in paediatric coeliac disease and their associations with other disease features. Researchers at the University of Tampere, Finland, compared EIM in 511 children diagnosed with coeliac disease from 2003 to 2014 and 180 diagnosed with functional gastrointestinal disorders from 2007 to 2013. Disease severity and dietary responses were also compared between coeliac children diagnosed by screening (n = 146) or because of EIM (n = 116) or gastrointestinal symptoms (n = 249). Coeliac patients had more EIM (62%) than those with functional disorders (33%). The most common EIM in coeliac children were poor growth (27%) and anaemia (18%). Children with coeliac disease often showed fatigue (8%) and symptoms affecting the skin (15%), nervous system (9%) and joints (6%). Coeliac patients with EIM as their main clinical presentation had more severe symptoms and histological damage at diagnosis than those with gastrointestinal presentation and screen-detected cases. The subgroups did not differ with regard to other clinical and laboratory parameters and dietary adherence. Concomitant EIM were also common in children diagnosed because of gastrointestinal presentation (60%) and by screening (37%). EIM were common in coeliac disease and associated with more severe clinical and histological presentation. ©2018 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.
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Mutation in BMPR2 Promoter: A ‘Second Hit’ for Manifestation of Pulmonary Arterial Hypertension?
Ehlken, Nicola; Fischer, Christine; Lichtblau, Mona; Grünig, Ekkehard; Hinderhofer, Katrin
2015-01-01
Background Hereditary pulmonary arterial hypertension (HPAH) can be caused by autosomal dominant inherited mutations of TGF-β genes, such as the bone morphogenetic protein receptor 2 (BMPR2) and Endoglin (ENG) gene. Additional modifier genes may play a role in disease manifestation and severity. In this study we prospectively assessed two families with known BMPR2 or ENG mutations clinically and genetically and screened for a second mutation in the BMPR2 promoter region. Methods We investigated the BMPR2 promoter region by direct sequencing in two index-patients with invasively confirmed diagnosis of HPAH, carrying a mutation in the BMPR2 and ENG gene, respectively. Sixteen family members have been assessed clinically by non-invasive methods and genetically by direct sequencing. Results In both index patients with a primary BMPR2 deletion (exon 2 and 3) and Endoglin missense variant (c.1633G>A, p.(G545S)), respectively, we detected a second mutation (c.-669G>A) in the promoter region of the BMPR2 gene. The index patients with 2 mutations/variants were clinically severely affected at early age, whereas further family members with only one mutation had no manifest HPAH. Conclusion The finding of this study supports the hypothesis that additional mutations may lead to an early and severe manifestation of HPAH. This study shows for the first time that in the regulatory region of the BMPR2 gene the promoter may be important for disease penetrance. Further studies are needed to assess the incidence and clinical relevance of mutations of the BMPR2 promoter region in a larger patient cohort. PMID:26167679
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Frequent Questions about the Manifest Registry
FAQs Including Can I submit multiple form samples to the EPA Registry for approval? Must I submit a continuation sheet sample to the Manifest Registry under section 262.21(d)? Can I typeset the form after I am approved to print the manifest?
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40 CFR 264.72 - Manifest discrepancies.
Code of Federal Regulations, 2011 CFR
2011-07-01
... 264.72 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) SOLID WASTES (CONTINUED) STANDARDS FOR OWNERS AND OPERATORS OF HAZARDOUS WASTE TREATMENT, STORAGE, AND DISPOSAL FACILITIES Manifest... waste acid, or toxic constituents not reported on the manifest or shipping paper. (c) Upon discovering a...
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40 CFR 264.72 - Manifest discrepancies.
Code of Federal Regulations, 2014 CFR
2014-07-01
... 264.72 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) SOLID WASTES (CONTINUED) STANDARDS FOR OWNERS AND OPERATORS OF HAZARDOUS WASTE TREATMENT, STORAGE, AND DISPOSAL FACILITIES Manifest... waste acid, or toxic constituents not reported on the manifest or shipping paper. (c) Upon discovering a...
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40 CFR 264.72 - Manifest discrepancies.
Code of Federal Regulations, 2012 CFR
2012-07-01
... 264.72 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) SOLID WASTES (CONTINUED) STANDARDS FOR OWNERS AND OPERATORS OF HAZARDOUS WASTE TREATMENT, STORAGE, AND DISPOSAL FACILITIES Manifest... waste acid, or toxic constituents not reported on the manifest or shipping paper. (c) Upon discovering a...
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40 CFR 264.72 - Manifest discrepancies.
Code of Federal Regulations, 2013 CFR
2013-07-01
... 264.72 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) SOLID WASTES (CONTINUED) STANDARDS FOR OWNERS AND OPERATORS OF HAZARDOUS WASTE TREATMENT, STORAGE, AND DISPOSAL FACILITIES Manifest... waste acid, or toxic constituents not reported on the manifest or shipping paper. (c) Upon discovering a...
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40 CFR 264.72 - Manifest discrepancies.
Code of Federal Regulations, 2010 CFR
2010-07-01
... 264.72 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) SOLID WASTES (CONTINUED) STANDARDS FOR OWNERS AND OPERATORS OF HAZARDOUS WASTE TREATMENT, STORAGE, AND DISPOSAL FACILITIES Manifest... waste acid, or toxic constituents not reported on the manifest or shipping paper. (c) Upon discovering a...
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40 CFR 262.23 - Use of the manifest.
Code of Federal Regulations, 2010 CFR
2010-07-01
... generation, the generator must send at least three copies of the manifest dated and signed in accordance with....72(f)), the generator must: (1) Sign either: (i) Item 20 of the new manifest if a new manifest is...
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Martinez-Sandoval, B; Ceballos-Hernández, H; Téllez-Rodríguez, J; Xochihua-Díaz, L; Durán-Ibarra, G; Pozos-Guillen, A J
2012-01-01
HIV infection is a major global health problem affecting developing and developed countries alike. HIV infection is associated with multiple oral lesions, some of which are of value in diagnosing the disease. The aim of this report is to describe the clinical manifestations and their multidisciplinary management, in a 6-year-old girl with AIDS. The findings of this case report indicate that, it is essential to be familiar with the early oral manifestations of AIDS in order to understand the patient's dental health needs, apply preventive methods, control caries, and understand the value of oral lesions as diagnostic markers of disease progression in children with HIV infection. A multidisciplinary management is fundamental.
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Mason, Sarah L; Zhang, Jiaxiang; Begeti, Faye; Guzman, Natalie Valle; Lazar, Alpar S; Rowe, James B; Barker, Roger A; Hampshire, Adam
2015-04-01
Deficits in emotional processing can be detected in the pre-manifest stage of Huntington's disease and negative emotion recognition has been identified as a predictor of clinical diagnosis. The underlying neuropathological correlates of such deficits are typically established using correlative structural MRI studies. This approach does not take into consideration the impact of disruption to the complex interactions between multiple brain circuits on emotional processing. Therefore, exploration of the neural substrates of emotional processing in pre-manifest HD using fMRI connectivity analysis may be a useful way of evaluating the way brain regions interrelate in the period prior to diagnosis. We investigated the impact of predicted time to disease onset on brain activation when participants were exposed to pictures of faces with angry and neutral expressions, in 20 pre-manifest HD gene carriers and 23 healthy controls. On the basis of the results of this initial study went on to look at amygdala dependent cognitive performance in 79 Huntington's disease patients from a cross-section of disease stages (pre-manifest to late disease) and 26 healthy controls, using a validated theory of mind task: "the Reading the Mind in the Eyes Test" which has been previously been shown to be amygdala dependent. Psychophysiological interaction analysis identified reduced connectivity between the left amygdala and right fusiform facial area in pre-manifest HD gene carriers compared to controls when viewing angry compared to neutral faces. Change in PPI connectivity scores correlated with predicted time to disease onset (r=0.45, p<0.05). Furthermore, performance on the "Reading the Mind in the Eyes Test" correlated negatively with proximity to disease onset and became progressively worse with each stage of disease. Abnormalities in the neural networks underlying social cognition and emotional processing can be detected prior to clinical diagnosis in Huntington's disease. Connectivity
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Tang, Mengxuan; Ryman, Davis C.; McDade, Eric; Jasielec, Mateusz S.; Buckles, Virginia D.; Cairns, Nigel J.; Fagan, Anne M.; Goate, Alison; Marcus, Daniel S.; Xiong, Chengjie; Allegri, Ricardo F.; Chhatwal, Jasmeer P.; Danek, Adrian; Farlow, Martin R.; Fox, Nick; Ghetti, Bernardino; Graff-Radford, Neill R.; Laske, Christopher; Martins, Ralph N.; Masters, Colin L.; Mayeux, Richard P.; Ringman, John M.; Rossor, Martin N.; Salloway, Stephen P.; Schofield, Peter R.; Morris, John C.; Bateman, Randall J.
2016-01-01
Background To evaluate the prevalence rates of non-amnestic neurological symptoms of autosomal dominant Alzheimer’s disease (ADAD) in the DIAN Observational Study (DIAN–OBS) and the published literature. Analyses were conducted to clarify the prevalence of neurological manifestations of ADAD mutation carriers as a group. Methods Using the DIAN-OBS study database and 189 peer-reviewed publications on ADAD families, we extracted individual-level data on age of symptom onset, disease course from onset to death, and the presence of fourteen neurological findings that have been reported in association with ADAD and included symptomatic subjects only. The primary outcomes were the rates of various neurological symptoms and the contribution of age and specific mutations on the prevalence of the neurological symptoms. Analyses were done using descriptive statistics, comparisons of means and frequencies and multivariable linear regression. Findings Our meta-analysis dataset includes 1228 affected individuals, with detailed clinical descriptions of 753. The DIAN–OBS dataset included 107 individuals with detailed clinical data. The most prevalent non-amnestic cognitive manifestations in DIAN were those typical of mild-moderate Alzheimer’s disease, including visual agnosia (95% CI 45·7%–64·6%), aphasia (43·8%–62·7%), and behavioral changes (51·5%–70·0%). The prevalence of non-amnestic cognitive manifestations from the published literature were (95% CI 3·9%–7·2%) for visual agnosia, (20%–26%) for aphasia, and (28·4%–35·1%) for behavioral changes. Prevalence of non-cognitive neurological manifestations in DIAN was low, including myoclonus and spasticity (3·8%–15·0%), seizures (0·5%–9·1%) and moderate for parkinsonism (5·3%–17·1%). Whereas, in the published literature the prevalence was (95% CI 16·6%–22·2% and 12·5%–17·6%) for myoclonus and spasticity, (10·1%–15·0%) for parkinsonism, and (17·4%–23·2%) for seizures. Age of
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NASA Astrophysics Data System (ADS)
Lehr, Hans-Anton; Hubner, Christoph; Nolte, Dirk; Kohlschutter, Alfried; Messmer, Konrad
1991-08-01
Epidemiologic observations and experimental studies have demonstrated a protective effect of dietary fish oil on the clinical manifestations of ischemia-reperfusion injury. To investigate the underlying mechanisms, we used the dorsal skinfold chamber model for intravital fluorescence microscopy of the microcirculation in striated muscle of awake hamsters. In control hamsters (n = 7), reperfusion after a 4-hr pressure-induced ischemia to the muscle tissue elicited the adhesion of fluorescently stained leukocytes to the endothelium of postcapillary venules, capillary obstruction, and the breakdown of endothelial integrity. These microvascular manifestations of ischemia-reperfusion injury were significantly attenuated in animals (n = 7) when fed with a fish oil-enriched diet for 4 weeks prior to the experiments. In leukocyte total lipids, the fish oil diet resulted in a substantial displacement of arachidonic acid, the precursor of the potent adhesionpromoting leukotriene (LT) B_4, by fish oil-derived eicosapentaenoic acid, the precursor of biologically less potent LTB_5, emphasizing the mediator role of LTB_4 in ischemia-reperfusion injury. These results suggest that the preservation of microvascular perfusion by dietary fish oil contributes to its protective effects on the clinical manifestations of ischemia-reperfusion injury.
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Buried Impact Basins and the Earliest History of Mars
NASA Technical Reports Server (NTRS)
Frey, H. V.
2003-01-01
The "Quasi-Circular Depressions" (QCDs) seen in MOLA data which have little or no visible appearance in image data have been interpreted as buried impact basins on Mars. These have important implications for the age of the lowland crust, what mechanisms could produce the crustal dichotomy, and the existence of crust older than the oldest observed surface units on Mars. A global survey of large QCDs using high resolution MOLA data now available has provided further details of the earliest history of Mars. The lowlands are of Early Noachian age, slightly younger than the buried highlands and definitely older than the exposed highland surface. A depopulation of large visible basins at diameters 800 to 1300 km suggests some global scale event early in martian history, maybe related to the formation of the lowlands and/or the development of Tharsis. A suggested early disappearance of the global magnetic field can be placed within a temporal sequence of formation of the very largest impact basins.
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40 CFR 761.207 - The manifest-general requirements.
Code of Federal Regulations, 2011 CFR
2011-07-01
..., AND USE PROHIBITIONS PCB Waste Disposal Records and Reports § 761.207 The manifest—general..., the earliest date of removal from service for disposal, and the weight in kilograms of the PCB waste..., the date of removal from service for disposal, and weight in kilograms of the PCB waste in each PCB...
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40 CFR 761.207 - The manifest-general requirements.
Code of Federal Regulations, 2012 CFR
2012-07-01
..., AND USE PROHIBITIONS PCB Waste Disposal Records and Reports § 761.207 The manifest—general..., the earliest date of removal from service for disposal, and the weight in kilograms of the PCB waste..., the date of removal from service for disposal, and weight in kilograms of the PCB waste in each PCB...
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Zatoń, Michał; Niedźwiedzki, Grzegorz; Blom, Henning; Kear, Benjamin P
2016-11-08
The end-Permian mass extinction constituted the most devastating biotic crisis of the Phanerozoic. Its aftermath was characterized by harsh marine conditions incorporating volcanically induced oceanic warming, widespread anoxia and acidification. Bio-productivity accordingly experienced marked fluctuations. In particular, low palaeolatitude hard substrate communities from shallow seas fringing Western Pangaea and the Tethyan Realm were extremely impoverished, being dominated by monogeneric colonies of filter-feeding microconchid tubeworms. Here we present the first equivalent field data for Boreal hard substrate assemblages from the earliest Triassic (Induan) of East Greenland. This region bordered a discrete bio-realm situated at mid-high palaeolatitude (>30°N). Nevertheless, hard substrate biotas were compositionally identical to those from elsewhere, with microconchids encrusting Claraia bivalves and algal buildups on the sea floor. Biostratigraphical correlation further shows that Boreal microconchids underwent progressive tube modification and unique taxic diversification concordant with changing habitats over time. We interpret this as a post-extinction recovery and adaptive radiation sequence that mirrored coeval subequatorial faunas, and thus confirms hard substrate ecosystem depletion as a hallmark of the earliest Triassic interval globally.
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NASA Astrophysics Data System (ADS)
Zatoń, Michał; Niedźwiedzki, Grzegorz; Blom, Henning; Kear, Benjamin P.
2016-11-01
The end-Permian mass extinction constituted the most devastating biotic crisis of the Phanerozoic. Its aftermath was characterized by harsh marine conditions incorporating volcanically induced oceanic warming, widespread anoxia and acidification. Bio-productivity accordingly experienced marked fluctuations. In particular, low palaeolatitude hard substrate communities from shallow seas fringing Western Pangaea and the Tethyan Realm were extremely impoverished, being dominated by monogeneric colonies of filter-feeding microconchid tubeworms. Here we present the first equivalent field data for Boreal hard substrate assemblages from the earliest Triassic (Induan) of East Greenland. This region bordered a discrete bio-realm situated at mid-high palaeolatitude (>30°N). Nevertheless, hard substrate biotas were compositionally identical to those from elsewhere, with microconchids encrusting Claraia bivalves and algal buildups on the sea floor. Biostratigraphical correlation further shows that Boreal microconchids underwent progressive tube modification and unique taxic diversification concordant with changing habitats over time. We interpret this as a post-extinction recovery and adaptive radiation sequence that mirrored coeval subequatorial faunas, and thus confirms hard substrate ecosystem depletion as a hallmark of the earliest Triassic interval globally.
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Articular manifestations of familial hypercholesterolaemia.
Mathon, G; Gagné, C; Brun, D; Lupien, P J; Moorjani, S
1985-01-01
Familial hypercholesterolaemia is characterised by a decreased removal of low density lipoproteins and premature coronary artery disease. Tendinous xanthomata are a hallmark of the disease. The affected joints may also be the sites of inflammation and pain. Arthropathy has been associated mainly with the homozygous form of familial hypercholesterolaemia, but it is also known to occur in the heterozygous form. We report on the articular manifestations in 73 patients with heterozygous familial hypercholesterolaemia. About 40% of these patients had at least one episode of articular symptoms. The observed articular manifestations may be classified into four types: Achilles pain (18%), Achilles tendinitis (11%), oligoarticular arthritis (7%), polyarticular or rheumatic fever-like arthritis (4%). It is concluded that in heterozygous familial hypercholesterolaemia articular manifestations are frequent, diverse, and may be the first symptom of this metabolic disorder. Images PMID:4037885
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Tuberous sclerosis with oral manifestations: A rare case report.
Sodhi, Sps; Dang, Ramandeep Singh; Brar, Gursimrat
2016-01-01
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome, inherited as an autosomal dominant trait with a high incidence of sporadic cases and protean clinical expression, with a incidence of prevalence between 1 in 10,000 and 1 in 170,000. The cardinal features of TSC are skin lesions, convulsive seizures, and mental retardation. We report a sporadically occurring case of definite TSC in a young female who presented with oral and cutaneous manifestations without mental retardation or history of convulsive seizures, which to the best of our knowledge has not been reported so far.
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Kosasih, Herman; Karyana, Muhammad; Lokida, Dewi; Alisjahbana, Bachti; Tjitra, Emiliana; Gasem, Muhammad Hussein; Aman, Abu Tholib; Merati, Ketut Tuti; Arif, Mansyur; Sudarmono, Pratiwi; Suharto, Suharto; Lisdawati, Vivi; Neal, Aaron; Siddiqui, Sophia
2017-01-01
Abstract Background Infectious diseases remain a significant healthcare burden in the developing world. In Indonesia, clinicians often manage and treat patients solely based on clinical presentations since the diagnostic testing capacities of hospitals are limited. Unfortunately, the most common infections in this tropical environment share highly similar manifestations, complicating the identification of etiologies and leading to the misdiagnosis of illness. When pathogen-specific testing is available, generally at top-tier specialist hospitals, the limited range of tests and slow turnaround times may never lead to a definitive diagnosis or improved patient outcomes. Methods To identify clinical parameters that can be used for differentiating the most common causes of fever in Indonesia, we evaluated clinical data from 1,486 acute febrile patients enrolled in a multi-site observational cohort study during 2013 to 2016. Results From the 66% of subjects with confirmed etiologies, the six most common infections were dengue virus (455), Salmonella spp. (124), Rickettsia spp. (109), influenza virus (64), Leptospira spp. (53), and chikungunya virus (37). The accompanying figure shows the clinical signs and symptoms (A) and hematology and blood chemistry results (B) for the color-coded pathogens. Comparing the profiles of all infected subjects reveals parameters that are uniquely associated with particular pathogens, such as leukopenia with dengue virus. Conclusion These observations will assist clinicians in healthcare systems with limited diagnostic testing capacities and may be useful in formulating diagnostic algorithms for Indonesia and other developing countries. Disclosures All authors: No reported disclosures.
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40 CFR 262.24 - Use of the electronic manifest.
Code of Federal Regulations, 2014 CFR
2014-07-01
... (CONTINUED) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE The Manifest § 262.24 Use of the electronic... originated that all waste handlers named on the manifest participate in the electronic manifest system. (d... is unavailable. If a generator has prepared an electronic manifest for a hazardous waste shipment...
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Lobetti, Remo
2014-11-14
Spirocercosis is an important disease in South Africa. The object of this study was to determine if there had been a change in the prevalence, clinical manifestations and treatment of Spirocerca lupi over a 14-year period. A questionnaire was sent to 577 veterinary practices throughout South Africa in 2012. Of responders, 76% indicated that S. lupi occurred in their area, whilst 24% indicated that it did not; 84% considered S. lupi not to be a new phenomenon, whereas 16% considered it to be new. Monthly or seasonal distribution of the disease was not reported, and 76% of responders reported it to occur in no specific breed of dog, whereas 24% reported a breed risk, most considering large breeds to be at greater risk. No specific age or sex was identified as at higher risk. Common owner complaints were vomiting, weight loss, cough, or regurgitation. Reported clinical findings tended to mirror the clinical signs reported by owners. Most common diagnostic methods used were radiology, endoscopy, faecal flotation, and post mortem examination. Forty-four percent did not report seeing asymptomatic cases, 40% reported asymptomatic cases and 16% did not know. Associated complications were reported by 85% of responders, and included oesophageal neoplasia, hypertrophic osteopathy and acute haemothorax. Four different drugs were used as therapy: doramectin, ivermectin, milbemycin and Advocate®, with 9% of the responders using a combination of these four; 85% considered treatment to be effective and 15% ineffective. Treatment was considered more effective if the disease was diagnosed early and there were no complications. Two important conclusions were that more cases are being seen and that efficacy of therapy has increased, with a decrease in the mortality rate.
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The role of egocentric and allocentric abilities in Alzheimer's disease: a systematic review.
Serino, Silvia; Cipresso, Pietro; Morganti, Francesca; Riva, Giuseppe
2014-07-01
A great effort has been made to identify crucial cognitive markers that can be used to characterize the cognitive profile of Alzheimer's disease (AD). Because topographical disorientation is one of the earliest clinical manifestation of AD, an increasing number of studies have investigated the spatial deficits in this clinical population. In this systematic review, we specifically focused on experimental studies investigating allocentric and egocentric deficits to understand which spatial cognitive processes are differentially impaired in the different stages of the disease. First, our results highlighted that spatial deficits appear in the earliest stages of the disease. Second, a need for a more ecological assessment of spatial functions will be presented. Third, our analysis suggested that a prevalence of allocentric impairment exists. Specifically, two selected studies underlined that a more specific impairment is found in the translation between the egocentric and allocentric representations. In this perspective, the implications for future research and neurorehabilitative interventions will be discussed. Copyright © 2014 Elsevier B.V. All rights reserved.
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Isolated extraocular muscle involvement as the ophthalmic manifestation of leukaemia.
Kiratli, Hayyam; Balci, Kadriye E; Himmetoğlu, Ciğdem; Uner, Ayşegül
2009-08-01
Clinical and imaging features of patients with orbital leukaemia primarily involving extraocular muscles were evaluated. This retrospective case series includes patients with leukaemia whose only ophthalmic manifestation was extraocular muscle enlargement. Demographic data, clinical information on the systemic disease, prominent ocular signs and symptoms, computed tomography and magnetic resonance imaging characteristics, treatments applied and the outcomes were collected. Five patients were diagnosed as leukaemic infiltration of extraocular muscle between 1995 and 2008. The age at presentation ranged between 3 and 61 years. Acute myeloid leukaemia was the diagnosis in two patients, and chronic lymphocytic leukaemia, chronic myeloid leukaemia and biphenotypic acute leukaemia were found in one patient each, respectively. One patient had bilateral involvement. The lateral rectus muscle was affected in four patients and the superior rectus muscle in one case. Restricted ocular motility was the most common finding. In one patient who had no prior history of leukaemia, an incisional biopsy established the diagnosis. All patients received multi-agent chemotherapy. Four patients expired after a rapid decline of the systemic status within a mean period of 7 months. Leukaemic infiltration of extraocular muscles is a rare and late manifestation of the advanced disease associated with relapse and there seems to be a predilection for the lateral rectus muscle. Systemic prognosis remains dismal despite intensive chemotherapy.
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Giant-cell arteritis without cranial manifestations
de Boysson, Hubert; Lambert, Marc; Liozon, Eric; Boutemy, Jonathan; Maigné, Gwénola; Ollivier, Yann; Ly, Kim; Manrique, Alain; Bienvenu, Boris; Aouba, Achille
2016-01-01
Abstract Diagnosis of giant-cell arteritis (GCA) is challenging in the absence of cardinal cranial symptoms/signs. We aimed to describe the clinical presentation, diagnostic process, and disease course of GCA patients without cranial symptoms, and to compare them to those of patients with typical cranial presentation. In this retrospective multicenter study, we enrolled patients with GCA who satisfied at least 3 of the 5 American College of Rheumatology criteria for GCA, or 2 criteria associated with contributory vascular biopsy other than temporal artery biopsy or with demonstration of large-vessel involvement; underwent iconographic evaluation of large arterial vessels (aortic CT scan or a positron emission tomography with 18F-fluorodeoxyglucose combined with computed tomography (FDG-PET/CT) scan or cardiac echography combined with a large-vessel Doppler) at diagnosis. We divided the cohort into 2 groups, distinguishing between patients without cranial symptoms/signs (i.e., headaches, clinical temporal artery anomaly, jaw claudication, ophthalmologic symptoms) and those with cranial symptoms/signs. In the entire cohort of 143 patients, all of whom underwent vascular biopsy and vascular imaging, we detected 31 (22%) patients with no cranial symptoms/signs. In the latter, diagnosis was biopsy proven in an arterial sample in 23 cases (74% of patients, on a temporal site in 20 cases and on an extratemporal site in 3). One-third of these 31 patients displayed extracranial symptoms/signs whereas the remaining two-thirds presented only with constitutional symptoms and/or inflammatory laboratory test results. Compared to the 112 patients with cardinal cranial clinical symptoms/signs, patients without cranial manifestations displayed lower levels of inflammatory laboratory parameters (C-reactive level: 68 [9–250] mg/L vs 120 [3–120] mg/L; P < 0.01), highest rate of aorta and aortic branch involvement identified (19/31 (61%) vs 42/112 (38%); P = 0.02) and also
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46 CFR 148.72 - Dangerous cargo manifest; exceptions.
Code of Federal Regulations, 2012 CFR
2012-10-01
... 46 Shipping 5 2012-10-01 2012-10-01 false Dangerous cargo manifest; exceptions. 148.72 Section 148.72 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY (CONTINUED) DANGEROUS CARGOES CARRIAGE OF... Dangerous cargo manifest; exceptions. (a) No dangerous cargo manifest is required for— (1) Shipments by...
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46 CFR 148.72 - Dangerous cargo manifest; exceptions.
Code of Federal Regulations, 2011 CFR
2011-10-01
... 46 Shipping 5 2011-10-01 2011-10-01 false Dangerous cargo manifest; exceptions. 148.72 Section 148.72 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY (CONTINUED) DANGEROUS CARGOES CARRIAGE OF... Dangerous cargo manifest; exceptions. (a) No dangerous cargo manifest is required for— (1) Shipments by...
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46 CFR 148.72 - Dangerous cargo manifest; exceptions.
Code of Federal Regulations, 2014 CFR
2014-10-01
... 46 Shipping 5 2014-10-01 2014-10-01 false Dangerous cargo manifest; exceptions. 148.72 Section 148.72 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY (CONTINUED) DANGEROUS CARGOES CARRIAGE OF... Dangerous cargo manifest; exceptions. (a) No dangerous cargo manifest is required for— (1) Shipments by...
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46 CFR 148.72 - Dangerous cargo manifest; exceptions.
Code of Federal Regulations, 2013 CFR
2013-10-01
... 46 Shipping 5 2013-10-01 2013-10-01 false Dangerous cargo manifest; exceptions. 148.72 Section 148.72 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY (CONTINUED) DANGEROUS CARGOES CARRIAGE OF... Dangerous cargo manifest; exceptions. (a) No dangerous cargo manifest is required for— (1) Shipments by...
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Valenzuela, Nicole M; Reed, Elaine F
2017-06-30
Solid organ transplantation is a curative therapy for hundreds of thousands of patients with end-stage organ failure. However, long-term outcomes have not improved, and nearly half of transplant recipients will lose their allografts by 10 years after transplant. One of the major challenges facing clinical transplantation is antibody-mediated rejection (AMR) caused by anti-donor HLA antibodies. AMR is highly associated with graft loss, but unfortunately there are few efficacious therapies to prevent and reverse AMR. This Review describes the clinical and histological manifestations of AMR, and discusses the immunopathological mechanisms contributing to antibody-mediated allograft injury as well as current and emerging therapies.
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40 CFR 265.71 - Use of manifest system.
Code of Federal Regulations, 2010 CFR
2010-07-01
... the manifest; (iv) Within 30 days of delivery, send a copy of the manifest to the generator; and (v... Pennsylvania Avenue, NW., Washington, DC 20460. (b) If a facility receives, from a rail or water (bulk shipment... on the manifest (excluding the EPA identification numbers, generator's certification, and signatures...
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Tabatabaei, Sayed Shahaboddin; Delbari, Ahmad; Salman-Roghani, Reza; Shahgholi, Leili; Fadayevatan, Reza; Mokhber, Naghmeh; Lokk, Johan
2013-08-01
The incidences of seizures and epilepsy in the population show a peak after 60 years of age. Due to the lack of reported clinical aspects of seizure and epilepsy in the older patients in our region in Iran, this study was conducted to describe the clinical manifestation, etiology, differential diagnosis, and epilepsy subtypes of epilepsy and seizure. A cross-sectional retrospective study was performed on all consecutively elderly seizure and epilepsy patients, referred to the Epilepsy Association in the city of Qom, Iran over a 10-year period. A total of 466 patients aged >60 years were admitted. 31 % of the patients had epilepsy or seizure and 69 % of them had non-epileptic events. The most prevalent differential diagnoses in the beginning were syncope and cardiovascular disorders. The most frequent clinical symptom of epilepsy was generalized tonic-clonic seizures (75 %). The most common cause of seizure was systemic metabolic disorder (27 %). In epileptic elderly patients, no cause was ascertained for 38 % and the most frequently observed pathological factors were cerebrovascular diseases, which accounted for 24 %. The most common type of epileptic seizure was generalized epileptic seizures (75 %). 10 % of elderly epileptic patients suffered from status epilepticus, which was primarily caused by anoxia. Despite the rising rate and potentially profound physical and psychosocial effects of seizures and epilepsy, these disorders have received surprisingly little research focus and attention in Iran. Referring older patients to a specialist or a specialist epilepsy center allows speedy assessment, appropriate investigation and treatment, and less likely to miss the diagnosis.
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e-Manifest for Hazardous Wastes in Texas
EPA launches the hazardous waste electronic manifest (e-Manifest) system on June 30, 2018. The fact sheets here are written from EPA's federal perspective but do contain useful information about Texas
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e-Manifest for Hazardous Wastes in Arkansas
EPA launches the hazardous waste electronic manifest (e-Manifest) system on June 30, 2018. The fact sheets here are written from EPA's federal perspective but do contain useful information about Arkansas
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e-Manifest for Hazardous Wastes in Louisiana
EPA launches the hazardous waste electronic manifest (e-Manifest) system on June 30, 2018. The fact sheets here are written from EPA's federal perspective but do contain useful information about Louisiana
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e-Manifest for Hazardous Wastes in Oklahoma
EPA launches the hazardous waste electronic manifest (e-Manifest) system on June 30, 2018. The fact sheets here are written from EPA's federal perspective but do contain useful information about Oklahoma
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21 CFR 11.50 - Signature manifestations.
Code of Federal Regulations, 2010 CFR
2010-04-01
... 21 Food and Drugs 1 2010-04-01 2010-04-01 false Signature manifestations. 11.50 Section 11.50 Food... RECORDS; ELECTRONIC SIGNATURES Electronic Records § 11.50 Signature manifestations. (a) Signed electronic...: (1) The printed name of the signer; (2) The date and time when the signature was executed; and (3...
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Guillain-Barré syndrome. Review and presentation of a case with pedal manifestations.
Viegas, G V
1997-05-01
Guillan-Barré syndrome is an acute, symmetrical polyneuropathy with distinctive features. The early clinical course involves painful paresthesia that is usually followed by proximal motor weakness. Albuminocytologic dissociation in the cerebrospinal fluid is considered diagnostically important. Therapy ranges from supportive measures including physical therapy to surgical intervention for residual deformities. A case with pedal manifestations is presented.
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Reinauer, Christina; Rosenbauer, Joachim; Bächle, Christina; Herder, Christian; Roden, Michael; Ellard, Sian; De Franco, Elisa; Karges, Beate; Holl, Reinhard W.; Enczmann, Jürgen; Meissner, Thomas
2017-01-01
Introduction: Major histocompatibility complex class II genes are considered major genetic risk factors for autoimmune diabetes. We analysed Human Leukocyte Antigen (HLA) DR and DQ haplotypes in a cohort with early-onset (age < 5 years), long term type 1 diabetes (T1D) and explored their influence on clinical and laboratory parameters. Methods: Intermediate resolution HLA-DRB1, DQA1 and DQB1 typing was performed in 233 samples from the German Paediatric Diabetes Biobank and compared with a local control cohort of 19,544 cases. Clinical follow-up data of 195 patients (diabetes duration 14.2 ± 2.9 years) and residual C-peptide levels were compared between three HLA risk groups using multiple linear regression analysis. Results: Genetic variability was low, 44.6% (104/233) of early-onset T1D patients carried the highest-risk genotype HLA-DRB1*03:01-DQA1*05:01-DQB1*02:01/DRB1*04-DQA1*03:01-DQB1*03:02 (HLA-DRB1*04 denoting 04:01/02/04/05), and 231 of 233 individuals carried at least one of six risk haplotypes. Comparing clinical data between the highest (n = 83), moderate (n = 106) and low risk (n = 6) genotypes, we found no difference in age at diagnosis (mean age 2.8 ± 1.1 vs. 2.8 ± 1.2 vs. 3.2 ± 1.5 years), metabolic control, or frequency of associated autoimmune diseases between HLA risk groups (each p > 0.05). Residual C-peptide was detectable in 23.5% and C-peptide levels in the highest-risk group were comparable to levels in moderate to high risk genotypes. Conclusion: In this study, we saw no evidence for a different clinical course of early-onset T1D based on the HLA genotype within the first ten years after manifestation. PMID:28534863
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Pulmonary manifestations of rheumatologic diseases.
Cidon, Michal; Bansal, Manvi; Hartl, Dominik
2017-06-01
The present review intends to provide an overview of the diversity and complexity of pulmonary manifestations of rheumatologic diseases and gaps in knowledge to effectively manage them. Diffuse lung disease in children with rheumatologic diseases represents a heterogeneous group of autoimmune disorders. Despite their significant morbidity and mortality, we have limited understanding about their pathogenesis. Here, we provide an overview of the pathophysiology and current management approach of these disorders, highlighting tools which assist with diagnosis, risk stratification and therapy. In this context, we address the need to develop a standardized approach to diagnose at-risk patients with rheumatologic disease and to predict their progression and the need to develop robust studies which evaluate the factors and interventions that influence pulmonary disease outcome. Diffuse lung disease in children with rheumatologic diseases represents a heterogeneous group of severe autoimmune disorders. By adopting a collaborative research approach among multicenters to help diagnose, risk stratify, and understand disease progression, effective management decisions can be optimized to improve clinical outcome.
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Orofacial manifestations of scleroderma. A literature review.
Hadj Said, M; Foletti, J M; Graillon, N; Guyot, L; Chossegros, C
2016-11-01
Scleroderma is a rare disease of the connective tissue (50 to 200 patients/1 million people; 60,000 patients in France). We conducted a literature review about the orofacial manifestations of scleroderma that have been little studied. The 45 articles found in 6 different databases by using the keywords "scleroderma", "systemic sclerosis", "oral medicine", "face" and published between 1944 and 2016 were selected, for a total of 328 patients. A total of 1187 orofacial manifestations of scleroderma were identified, occurring mainly in women (84.5%) with a mean age of 40.2 years, 10 years on average after the first manifestation of the disease. The main ones were limitation of mouth opening (69.8%), widening of the periodontal ligament (67.3%), xerostomia (63.4%), telangiectasia (36.2%) and bone lesions (34.5%). Dental root resorptions, pulp and nose calcifications were also reported but with no evident link with scleroderma. Orofacial manifestations of scleroderma are probably more common than reported. They mostly affect women with a mean age of 40. The most common oral manifestations are limitation of mouth opening, widening of the periodontal ligament and xerostomia. Because of the handicap they may be responsible for, these manifestations must be detected early in order to prevent from functional impairments and from dental and periodontal lesions. Copyright © 2016 Elsevier Masson SAS. All rights reserved.
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Autorefraction Versus Manifest Refraction in Patients With Keratoconus.
Soeters, Nienke; Muijzer, Marc B; Molenaar, Jurrian; Godefrooij, Daniel A; Wisse, Robert P L
2018-01-01
To compare visual performance using autorefraction and manifest refraction assessments in patients with keratoconus and investigate whether autorefraction measurements lead to suboptimal visual performance. Corrected distance visual acuity (CDVA) was measured in 90 eyes of 61 patients with keratoconus with both autorefraction and manifest refraction, in a random order. Maximum keratometry (Kmax), cone location, and wavefront aberration were determined with Scheimpflug tomography. The difference between the autorefraction and manifest refraction outcomes was converted to vectors and a multivariable analysis was performed to identify potential underlying causes of this difference. A significantly better CDVA was achieved with manifest refraction (0.06 vs 0.29 logMAR [20/23 vs 20/38 Snellen], P < .001). After vector analysis, a mean difference of 4.83 diopters was found between autorefraction and manifest refraction. Increased Kmax was strongly and significantly associated with better visual performance of manifest refraction compared to autorefraction (B = 0.496, P = .002). This study showed that a superior CDVA is achieved with manifest refraction compared to autorefraction in patients with keratoconus. Furthermore, the difference between the two refraction methods increases as the cornea steepens. According to this study, autorefraction is unreliable in patients with keratoconus and should be avoided. [J Refract Surg. 2018;34(1):30-34.]. Copyright 2018, SLACK Incorporated.
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Central nervous system manifestations of Angiostrongylus cantonensis infection.
Martins, Yuri C; Tanowitz, Herbert B; Kazacos, Kevin R
2015-01-01
Over 20 species of Angiostrongylus have been described from around the world, but only Angiostrongylus cantonensis has been confirmed to cause central nervous system disease in humans. A neurotropic parasite that matures in the pulmonary arteries of rats, A. cantonensis is the most common cause of eosinophilic meningitis in southern Asia and the Pacific and Caribbean islands. The parasite can also cause encephalitis/encephalomyelitis and rarely ocular angiostrongyliasis. The present paper reviews the life cycle, epidemiology, pathogenesis, clinical features, diagnosis, treatment, prevention and prognosis of A. cantonesis infection. Emphasis is given on the spectrum of central nervous system manifestations and disease pathogenesis. Copyright © 2014 Elsevier B.V. All rights reserved.
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Salazar-Camarena, D C; Ortiz-Lazareno, P C; Cruz, A; Oregon-Romero, E; Machado-Contreras, J R; Muñoz-Valle, J F; Orozco-López, M; Marín-Rosales, M; Palafox-Sánchez, C A
2016-05-01
B-cell-activating factor (BAFF) and a proliferation-inducing ligand (APRIL) signaling pathways regulate B-cell survival through interactions with their receptors BAFF-R, TACI and BCMA. We evaluated the association of these ligands/receptors on B-cell subsets according to clinical manifestations of systemic lupus erythematosus (SLE). BAFF and APRIL serum concentrations were measured in 30 SLE patients by enzyme-linked immunosorbent assay. The BAFF-R, TACI and BCMA expression was analyzed on each B cell subset (CD19 + CD27-CD38-/ + naïve; CD19 + CD27 + CD38-/ + memory; CD19 + CD27-CD38 + + immature and CD19 + CD27 + CD38 + + plasma cells) by flow cytometry, and compared among patients with different clinical manifestations as well as healthy controls (HCs). Serum BAFF and APRIL levels were high in SLE patients and correlated with the Mex-SLEDAI disease activity index (r = 0.584; p = 0.001 and r = 0.456; p = 0.011, respectively). The SLE patients showed an increased proportion of memory and plasma B cells (p < 0.05). BAFF-R, TACI and BCMA expression in SLE patients was decreased in almost all B cell subsets compared to HCs (p < 0.05). A lower BCMA expression was associated with severe disease activity, glomerulonephritis, serositis and hemolytic anemia (p < 0.01). BCMA expression showed a negative correlation with Mex-SLEDAI score (r = -0.494, p = 0.006). Decreased BCMA expression on peripheral B cells according to severe disease activity suggests that BCMA plays an important regulating role in B-cell hyperactivity and immune tolerance homeostasis in SLE patients. © The Author(s) 2015.
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Concannon, A; Rudge, S; Yan, J; Reed, P
2013-10-01
To describe the incidence, diagnostic clinical manifestations and severity of juvenile systemic lupus erythematosus (jSLE) in a cohort of New Zealand Maori and Pacific Island children compared to European children. A chart review was conducted of children with jSLE seen by the Starship paediatric rheumatology and/or renal services between January 2000 and November 2010. Diagnostic clinical data and lupus nephritis data at anytime were collated while classic British Isles Lupus Assessment Group (BILAG) and Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores were derived retrospectively. Thirty-two children were diagnosed with jSLE with an annual incidence of 0.52 per 100,000 per year. Compared with European children (0.31 per 100,000 per year) the incidence of jSLE was higher among Maori and Pacific (0.67 per 100,000 per year, p=0.06) and significantly higher among Asian children (1.17 per 100,000 per year, p=0.01). Compared with European children, Maori and Pacific children were more frequently diagnosed with lupus nephritis (80% vs 40%, p=0.09) and severe (WHO class 4 or 5) renal lesions (60% vs 40%, p=0.43) at presentation. Similarly, at any time during the study, lupus nephritis (100% vs 40%, p=0.001) and severe (WHO class 4 or 5) renal lesions (73.3% vs 40%, p=0.12) were more frequent among Maori and Pacific compared with European children. Furthermore, retrospective BILAG assessment of diagnostic disease severity demonstrated that Maori and Pacific children experienced the majority of severe "Category A" disease (56.8% vs 22.7%, p=0.17) which was predominantly renal (73.3% vs 40%, p=0.12) in nature. This is the first description of the incidence and clinical manifestations of jSLE in a cohort of New Zealand children. Although limited by the small numbers involved it confirmed anecdotal suspicions that the incidence of jSLE among Maori, Pacific and Asian children is higher than European children. Lupus nephritis is also more frequent and severe
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NASA Astrophysics Data System (ADS)
Mahmood, Faisal; Johannesen, Helle H.; Geertsen, Poul; Hansen, Rasmus H.
2017-04-01
An imaging biomarker for early prediction of treatment response potentially provides a non-invasive tool for better prognostics and individualized management of the disease. Radiotherapy (RT) response is generally related to changes in gross tumor volume manifesting months later. In this prospective study we investigated the apparent diffusion coefficient (ADC), perfusion fraction and pseudo diffusion coefficient derived from diffusion weighted MRI as potential early biomarkers for radiotherapy response of brain metastases. It was a particular aim to assess the optimal time point for acquiring the DW-MRI scan during the course of treatment, since to our knowledge this important question has not been addressed directly in previous studies. Twenty-nine metastases (N = 29) from twenty-one patients, treated with whole-brain fractionated external beam RT were analyzed. Patients were scanned with a 1 T MRI system to acquire DW-, T2*W-, T2W- and T1W scans, before start of RT, at each fraction and at follow up two to three months after RT. The DW-MRI parameters were derived using regions of interest based on high b-value images (b = 800 s mm-2). Both volumetric and RECIST criteria were applied for response evaluation. It was found that in non-responding metastases the mean ADC decreased and in responding metastases it increased. The volume based response proved to be far more consistently predictable by the ADC change found at fraction number 7 and later, compared to the linear response (RECIST). The perfusion fraction and pseudo diffusion coefficient did not show sufficient prognostic value with either response assessment criteria. In conclusion this study shows that the ADC derived using high b-values may be a reliable biomarker for early assessment of radiotherapy response for brain metastases patients. The earliest response stratification can be achieved using two DW-MRI scans, one pre-treatment and one at treatment day 7-9 (equivalent to 21 Gy).
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Giménez-Arnau, Ana; Silvestre, Juan Francisco; Mercader, Pedro; De la Cuadra, Jesus; Ballester, Isabel; Gallardo, Fernando; Pujol, Ramón M; Zimerson, Erik; Bruze, Magnus
2009-11-01
The methyl ester form of fumaric acid named dimethyl fumarate (DMF) is an effective mould-growth inhibitor. Its irritating and sensitizing properties were demonstrated in animal models. Recently, DMF has been identified as responsible for furniture contact dermatitis in Europe. To describe the clinical manifestations, patch test results, shoe chemical analysis, and source of exposure to DMF-induced shoe contact dermatitis. Patients with suspected shoe contact dermatitis were studied in compliance with the Declaration of Helsinki. Patch test results obtained with their own shoe and the European baseline series, acrylates and fumaric acid esters (FAE), were recorded according to international guidelines. The content of DMF in shoes was analysed with gas chromatography and mass spectrometry. Acute, immediate irritant contact dermatitis and non-immunological contact urticaria were observed in eight adults and two children, respectively. All the adult patients studied developed a delayed sensitization demonstrated by a positive patch testing to DMF < or = 0.1% in pet. Cross-reactivity with other FAEs and acrylates was observed. At least 12 different shoe brands were investigated. The chemical analysis from the available shoes showed the presence of DMF. DMF in shoes was responsible for severe contact dermatitis. Global preventive measures for avoiding contact with DMF are necessary.
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Arman, Mònica; Raza, Ahmed; Tempest, Louisa J.; Lyke, Kirsten E.; Thera, Mahamadou A.; Koné, Abdoulaye; Plowe, Christopher V.; Doumbo, Ogobara K.; Rowe, J. Alexandra
2009-01-01
Platelet-mediated clumping of Plasmodium falciparum infected erythrocytes is an adhesive phenotype commonly found in field isolates that has previously been associated with severe malaria. Here, clumping was assessed in 131 isolates from Malian children. The clumping phenotype was seen in 6% (n=51) of uncomplicated malaria, 24% (n=51) of severe malaria, and 45% (n=29) of high parasitemia non-severe malaria isolates. Multivariate analysis indicated that clumping was strongly positively associated with parasitemia (F1,122=24.1, p<0.001) but not with disease category (F2,122=1.8, p=0.17). Therefore platelet-mediated clumping in Malian P. falciparum isolates is primarily associated with high parasitemia and not with severe clinical manifestations of malaria. PMID:17984358
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The clinical manifestations, diagnosis, and treatment of adrenal emergencies.
Tucci, Veronica; Sokari, Telematé
2014-05-01
Emergency medicine physicians should be able to identify and treat patients whose clinical presentations, including key historical, physical examination, and laboratory findings are consistent with diagnoses of primary, secondary, and tertiary adrenal insufficiency, adrenal crisis, and pheochromocytoma. Failure to make a timely diagnosis leads to increased morbidity and mortality. As great mimickers, adrenal emergencies often present with a constellation of nonspecific signs and symptoms that can lead even the most diligent emergency physician astray. The emergency physician must include adrenal emergencies in the differential diagnosis when encountering such clinical pictures. Copyright © 2014 Elsevier Inc. All rights reserved.
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Voizard, Béatrice; Lalonde, Lucie; Sanchez, Lilia Maria; Richard-Chesnay, Johanne; David, Julie; Labelle, Maude; El Khoury, Mona; Trop, Isabelle
2017-07-01
Lupus mastitis is an uncommon manifestation of systemic lupus erythematosus (SLE) that affects the subcutaneous fat in the breast, much like lupus panniculitis, but additionally involves the mammary gland. We report on two women for whom lupus mastitis was the initial manifestation of SLE and provide a literature review of 34 additional cases reported in the Anglo-Saxon and French literature since 1971, making this the largest review to date. Lupus mastitis (LM) can manifest clinically as subcutaneous masses that may be painful, or may present cutaneous involvement such as thickening and discolouration. The radiologic manifestations of LM are broad and include calcifications, masses and asymmetries. Most often, excluding malignancy requires percutaneous biopsy, with histologic findings that are virtually pathognomonic for SLE. Thus, surgery is avoided and medical management can begin, antimalarial drugs and corticosteroids in most cases. Copyright © 2017 Elsevier B.V. All rights reserved.
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Prete, M; Fatone, M C; Vacca, A; Racanelli, V; Perosa, F
2014-01-01
Severe pulmonary arterial hypertension (PAH) is rarely observed as the initial manifestation of systemic lupus erythematosus (SLE), and the diagnosis is often delayed. Here we present the case of a 32-year-old woman with severe PAH as the initial manifestation of SLE, who was successfully treated with mycophenolate mofetil and cyclosporine. This case offered the opportunity to critically review the epidemiology data, predictive markers, and pathogenic pathways of SLE-associated PAH (SLE-PAH) in relation to the currently available therapeutic options and to the main clinical trials of the last 10 years focused on the treatment of SLE-PAH. Mycophenolate mofetil and cyclosporine - currently used in the maintenance phase of the disease in certain clinical settings - should be considered, as an alternative to cyclophosphamide, in future clinical trials aimed at evaluating the most effective treatment of SLE-PAH at presentation.
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Clinical and Biochemical Manifestations of Depression: Relation to the Neurobiology of Stress
Gold, Phillip W.; Machado-Vieira, Rodrigo; Pavlatou, Maria G.
2015-01-01
Major depressive disorder (MDD) is a chronic, recurrent, and severe psychiatric disorder with high mortality and medical comorbidities. Stress-related pathways have been directly involved in the pathophysiology and treatment of MDD. The present paper provides an overview on the stress system as a model to understand key pathophysiological paradigms in MDD. These mechanisms involve behavioral, cognitive, and systemic manifestations and are also associated with the mechanisms of action of effective antidepressants. Aspects such as depression subtypes, inflammation, insulin resistance, oxidative stress, and prothrombotic states in critical brain circuits and periphery are critically appraised. Finally, new strategies for approaching treatment-resistant major depression and potential adverse effects associated with this complex and intricate network are highlighted. The authors used PubMed as the database for this review. Each author extracted relevant data and assessed the methodological quality of each study. PMID:25878903
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Orofacial manifestations of achondroplasia
Rohilla, Smriti; Kaushik, Atul; Vinod, V.C.; Tanwar, Renu; Kumar, Munish
2012-01-01
Achondroplasia (Online Mendelian Inheritance in Man [OMIM] 100800), is considered as a form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of special interest in the field of dentistry because of its characteristic craniofacial features which include relative macrocephaly, depressed nasal bridge and maxillary hypoplasia. Presence of large head, implanted shunt, airway obstruction and difficulty in head control requires special precautions during dental management. The current case report highlights the orofacial manifestations of Achondroplasia in a young pediatric patient, along with the multidisciplinary treatment (including the dental treatment) done for the patient which also might help the general practitioners in better understanding of the condition. PMID:27298609